Predicted mutation
evidence seq id position mutation annotation gene description
RA NC_000913_3_hsa_tpiA 2,226,426 G→T intergenic (+47/+83) yohD → / ← yohF DedA family inner membrane protein/putative oxidoreductase

Read alignment evidence...
  seq id position ref new freq score (cons/poly) reads annotation genes product
*NC_000913_3_hsa_tpiA2,226,4260GT100.0% 172.6 / NA 53intergenic (+47/+83)yohD/yohFDedA family inner membrane protein/putative oxidoreductase
Reads supporting (aligned to +/- strand):  ref base G (0/0);  new base T (24/29);  total (24/29)

GCACTGGGTCTGGTTGATTCTGGTCGTGGTTCTGGTGGTGGGCGTGCGCTGGTGGCTGAAACGACGCGGGAAGAAAAAGCCGGATCATCAGGCGTAAAACCATTGCCCTGGATAAGGCGTTCGCGCCGCATCCGACATCCGGAGTACCATGCCTGATACGACGCTTGTGCGTCTTTTCATGCCGACCAAAATATTACCCAATGAAATATCCACGCACCTCACTGCGCTATTCTGGGTTGAACTGTGGATTCGCCAACATAAAGCCGCCATCCACTATCAACGACTGCCC  >  NC_000913_3_hsa_tpiA/2226283‑2226571
                                                                                                                                               |                                                                                                                                                 
gCACTGGGTCTGGTTGATTCTGGTCGTGGTTCTGGTGGTGGGCGTGCGCTGGTGGCTAAAACGACGCGGGAAGAAAAAGCCGGATCATCAGGCGTAAAACCATTGCCCTGCATAAGGCGTTCGCGCCGCATCCGACATCCGAATTACCa                                                                                                                                              >  1:916111/1‑149 (MQ=255)
 cACTGGGTCTGGTTGATTCTGGTCGTGGTTCTGGTGGTGGGCGTGCGCTGGTGGCTGAAACGACGCGGGAAGAAAAAGCCGGATCATCAGGCGTAAAACCATTGCCCTGGATAAGGCGTTCGCGCCGCATCCGACATCCGGATTACCAt                                                                                                                                             <  1:489404/149‑1 (MQ=255)
   atgggtgtgggtgATGATGGTCGTGGTTCGGGTGGTGGGCGTGCGCTGGTGGCTGAAACGACGCGGGAAGAAAAAGCCGGATCATCAGGCGTAAAACCATTGCCCTGGATAAGGCGTTCGCGCCGCATCCGACATCCGGATTACCATGc                                                                                                                                           <  2:311515/148‑1 (MQ=255)
          tGGTTGATTCTGGTCGTGGTTCTGGTGGTGGGCGTGCGCTGGTGGCTGAAACGACGCGGGAAGAAAAAGCCGGATCATCAGGCGTAAAACCATTGCCCTGGATAAGGCGTTCGCGCCGCATCCGACATCCGGATTACCATGCCTGATac                                                                                                                                    >  1:832290/1‑149 (MQ=255)
            gTTGATTCTGGTCGTGGTTCTGGTGGTGGGCGTGCGCTGGTGGCTGAAACGACGCGGGAAGAAAAAGCCGGATCATCAGGCGTAAAACCATTGCCCTGGATAAGGCGTTCGCGCCGCATCCGACATCCGGATTACCCTGCCTGATacga                                                                                                                                  >  1:625289/1‑149 (MQ=255)
            gTTGATTCTGGTCGTGGTTCTGGTGGTGGGCGTGCGCTGGTGGCTGAAACGACGCGGGAAGAAAAAGCCGGATCATCAGGCGTAAAACCATTGCCCTGGATAAGGCGTTCGCGCCGCATCCGACATCCGGATTACCATGCCTGATacga                                                                                                                                  >  2:109897/1‑149 (MQ=255)
            gTTGATTCTGGTCGTGGTTCTGGTGGTGGGCGTGCGCTGGTGGCTGAAACGACGCGGGAAGAAAAAGCCGGATCATCAGGCGTAAAACCATTGCCCTGGATAAGGCGTTCGCGCCGCATCCGACATCCGGATTACCATGCCTGATacga                                                                                                                                  <  1:691449/149‑1 (MQ=255)
                 ttCTGGTCGTGGTTCTGGTGGTGGGCGTGCGCTGGTGGCTGAAACGACGCGGGAAGAAAAAGCCGGATCATCAGGCGTAAAACCATTGCCCTGGATAAGGCGTTCGCGCCGCATCCGACATCCGGATTACCATGCCTGATACGACGCtt                                                                                                                             <  1:685858/149‑1 (MQ=255)
                  tCTGGTCGTGGTTCTGGTGGTGGGCGTGCGCTGGTGGCTGAAACGACGCGGGAAGAAAAAGCCGGATCATCAGGCGTAAAACCATTGCCCTGGATAAGGCGTTCGCGCCGCATCCGACATCCGGATTACCATGCCTGATACGACGCTtg                                                                                                                            >  1:571539/1‑149 (MQ=255)
                       tCGTGGTTCTGGTGGTGGGCGTGCGCTGGTGGCTGAAACGACGCGGGAAGAAAAAGCCGGATCATCAGGCGTAAAACCATTGCCCTGGATAAGGCGTTCGCGCCGCATCCGACATCCGGATAACCATGCCTGATACGACGCATGTGCGt                                                                                                                       >  2:461782/1‑149 (MQ=255)
                       tCGTGGTTCTGGTGGTGGGCGTGCGCTGGAGGCTGAAACCCCAAATGGAGTTGGAGGCGGATCATCAGGCGTAAAACCATTGCGCTGGATAAGGCGTTCGCGCCGCATCCGACATCCGGATTACCATGCCTGGTACGCCGCTTGAGCGt                                                                                                                       >  2:695020/1‑149 (MQ=255)
                         gTGGTTCTGGTGGTGGGCGTGCGCTGGTGGCTGAAACGACGCGGGAAGAAAAAGCCGGATCATCAGGCGTAAAACCATTGCCCTGGATAAGGCGTTCGCGCCGCATCCGACATCCGGATTACCATGCCTGATACGACGCTTGTGCGTCt                                                                                                                     <  1:16624/149‑1 (MQ=255)
                          tGGTTCTGGTGGTGGGCGTGCGCTGGTGGCTGAAACGACGCGGGAAGAAAAAGCCGGATCATCAGGCGTAAAACCATTGCCCTGGATAAGGCGTTCGCGCCGCATCCGACATCCGGATTACCATGCCTGATACGACGCTTGTGCGTCtt                                                                                                                    <  1:972228/149‑1 (MQ=255)
                            gTTCTGGGGGTGGGCGTGCGCTGGTGGCTGAAACGACGCGGGAAGAAAAAGCCGGATCATCAGGCGTAAAACCATTGCCCTGGATAAGGCGTTCGCGACGGATCCGATATCCGGATTACCATGCCTGATACGACGCTTGTGCGTCtttt                                                                                                                  <  2:174081/149‑1 (MQ=255)
                               ttggtggtggGCGTGCGCTGGTGGCTGAAACGACGCGGACAGAACAGGACTGATCATCAGGCGTAAAACCATTGCCCTGGATAAGGCGTTCGCGCCGCATCCGACATCCGGATTACCATGCCTGATACGACGCTTGTGCGTCTTTTCAt                                                                                                               <  1:859567/148‑1 (MQ=255)
                                 ggtggtggGCGTGCGCTGGTGGCTGAAACGACGCGGGAAGAAAAAGCCGGATCATCAGGCGTAAAACCATTGCCCTGGATAAGGCGTTCGCGCCGCATCCGACATCCGGATTACCATGCCTGATACGACGCTTGTGCGTCTTTTCATGc                                                                                                             <  2:832290/149‑1 (MQ=255)
                                  gtggtggGCGTGCGCTGGTGGCTGAAACGACGCGGGAAGAAAAAGCCGGATCATCAGGCGTAAAACCATTGCCCTGGATAAGGCGGTCGCGCCGCATCCGACATCCGGATTACCATGCCTGATACGACGATTGTGCGTCCTTTCAtccg                                                                                                            >  1:396828/1‑146 (MQ=255)
                                                 tggtggCTGAAACGACGCGGGAAGAAAAAGCCGGATCATCAGGCGTAAAACCATTGCCCTGGATAAGGCGTTCGCGCCGCATCCGACATCCGGATTACCATGCCTGATACGACGCTTGTGCGTCTTTTCATGCCGACCAAAATATTccc                                                                                             >  1:991083/1‑149 (MQ=255)
                                                      gCTGAAACGACGCGGGAAGAAAAAGCCGGATCATCAGGCGTAAAACCATTACCCTGGATAAGGCGTTCGCGCCGCATCCGACATCCGGATTACCATGCCTGATACGACGCCTGTGCGTCTTTTCATCCCGACCCAAATATTACCCAAtc                                                                                        >  2:516856/1‑148 (MQ=255)
                                                         gAAACGACGCGGGAAGAAAAAGCCGGATCATCAGGCGTAAAACCATTGCCCTGGATAAGGCGTTCGCGCCGCATCCGACATCCGGATTACCATGCCTGATACGACGCTTGTGCGTCTTTTCATGCCGACCAAAATATTACCCAATGaaa                                                                                     <  1:585823/149‑1 (MQ=255)
                                                         gAAACGACGCGGGAAGAAAAAGCCGGATCATCAGGCGTAAAACCATTGCCCTGGATAAGGCGTTCGCGCCGCATCCGACATCCGGATTACCATGCCTGATACGACGCTTGTGCGTCTTTTCATGCCGACCAAAATATTACCCAATGaaa                                                                                     <  2:674460/149‑1 (MQ=255)
                                                              gacgCGGGAAGAAAAAGCCGGATCATCAGGCGTAAAACCATTGCCCTGGATAAGGCGTTCGCGCCGCATCCGACATCCGGATTACCATGCCTGATACGACGCTTGTGCGTCTTTTCATGCCGACCAAAATATTACCCAATGAAATATcc                                                                                >  1:955734/1‑149 (MQ=255)
                                                              gacgCGGGAAGAAAAAGCCGGATCACCAGGCGTAAACTCATTGCCCTGGATAAGGCGTTCGCGCCGCATCCGACATCCGGATTACCATGCCTGATACGACGCTTGTGCGTCTTTTCATGCCGACCAAAATATTACTCAATGAAATATcc                                                                                <  2:108656/149‑1 (MQ=255)
                                                               acgCGGGAAGAAAAAGCCGGATCATCAGGCGTAAAACCATTGCCCTGGATAAGGCGTTCGCGCCGCATCCGACATCCGGATTACCATGCCTGATACGACGCTTGTGCGTCTTTTCATGCCGACCAAAATATTACCCAATGAAATATCCa                                                                               <  1:707361/149‑1 (MQ=255)
                                                                cgcgGGAAGAAAAAGCCGGATCATCAGGCGTAAAACCATTGCCCTGGATAAGGCGTTCGCGCCGCATCCGACATCCGGATTACCATGCCTGATACGACGCTTGTGCGTCTTTTCATGCCGACCAAAATATTACCCAATGAAATATCCAc                                                                              <  2:571539/149‑1 (MQ=255)
                                                                    ggATGAAAAAGCAGGATCATCAGGCGTAAAACCATTGCCCTGGATAAGGCGTTCGCGCCGCATCCGACATCCGGATTACCATGCCTGATACGACGCTTGTGCGTCTTTTCATGCCGACCAAAATATTACCCAATGAAATATCCACGCAc                                                                          <  1:723/149‑1 (MQ=255)
                                                                        gaaAAAGCCGGATCATCAGGCGTAAAACCATTGCCCTGGATAAGGCGTTCGCGCCGCATCCGACATCCGGATTACCATGCCTGATACGACGCTTGTGCGTCTTTTCATGCCGACCAAAATATTACCCAATGAAATATCCACGCACCTCa                                                                      >  1:285583/1‑149 (MQ=255)
                                                                                     catccGCCGTAAAACCATTGCCCTGGATAAGGCGTTCGCGCCGCATCCGACATCCGGATTACCATGCCTGATACGACGCTTGTGCGTCTTTTCATGCCGACCAAAATATTACCCAATGAAATATCCACGCACCTCACTGCGCTATTCTg                                                         <  1:395313/149‑1 (MQ=255)
                                                                                          ggCGTAAAACCATTGCCCTGGATAAGGCGTTCGCGCCGCATCCGACATCCGGATTACCATGCCTGATACGACGCTTGTGc                                                                                                                         >  1:204243/1‑80 (MQ=255)
                                                                                          ggCGTAAAACCATTGCCCTGGATAAGGCGTTCGCGCCGCATCCGACATCCGGATTACCATGCCTGATACGACGCTTGTGc                                                                                                                         <  2:204243/80‑1 (MQ=255)
                                                                                                 aaCCATTGCCCTGGATAAGGCGTTCGCGCCGCATCCGACCTCCGGATTACCATGCCTGATACGACGCTTGTGCGTCTTTTCATGCCGACCAAAATATTACCCAATGAAATATCCACGCACCTCACTGCGCTATTCTGGGTTGAACtgtg                                             <  2:970235/149‑1 (MQ=255)
                                                                                                 aaCCATTGCCCTGGATAAGGCGTTCGCGCCGCATCCGACATCCGGATTACCATGCCTGATACGACGCTTGTGCGTCTTTTCATGCCGACCAAAATATTACCCAATGAAATATCCACGCACCTCACTCCGCTCTTCTGCGTTGAACtgtc                                             >  2:631165/1‑148 (MQ=255)
                                                                                                  aCCATTGCCCTGGATAAGGCGTTCGCGCCGCATCCGACATCCGGATTACCATGCCTGATACGACGCTTGTGCGTCTTTTCATGCCGACCAAAATATTACCCAATGAAATATCCACGCACCTCACTGCGCTATTCTGGGTTGAACTGTgg                                            <  1:856757/149‑1 (MQ=255)
                                                                                                    cATTGCCCTGGATAAGGCGTTCGCGCCGCATCCGACATCCGGATTACCATGCCTGATACGACGCTTGTGCGTCTTTTCATGCCGACCAAAATATTACCCAATGAAATATCCACGCACCTCACTGCGCTATTCTGGGTTGAACTGTGGAt                                          <  1:990641/149‑1 (MQ=255)
                                                                                                         cccTGGATAAGGCGTTCGTGCCGCATCCGACATCCGGATTACCATGCCTGATACGACGCTTGTGCGTCTTTTCATGCCGACCAAAATATTACCCAATGAAATATCCACGCACCTCACTGCGCTATTCTGGGCTGAACTGTGGATTCGcc                                     >  1:13532/1‑149 (MQ=255)
                                                                                                           cTGGATAAGGCGTTCGCGCCGCATCCGACATCCGGATTACCATGCCTGATACGACGCTTGTGCGTCTTTTCATGCCGACCAAAATATTACCCAATGAAATATCCACGCACCTCACTGCGCTATTCTGGGTTGAACTGTGGATTCGCCaa                                   <  1:780626/149‑1 (MQ=255)
                                                                                                               aTAAGGCGTTCGCGCCGCATCCGACATCCGGATTACCATGCCTGATACGACGCTTGTGCGTCTTTTCATGCCGACCAAAATATTACCCAATGAAATATCCACGCACCTCACTGCCCTATTCTAGGTTGAACTGTGGATTCGCCAACCTa                               >  1:186817/1‑149 (MQ=255)
                                                                                                                 aaGGCGTTCGCGCCGCATCCGACATCCGGATTACCATGCCTGATACGACGCTTGTGCGTCTTTTCATGCCGACCAAAATATTACCCAATGAAATATCCACGCACCCCACTGCCCTATACCGCGTTGAACCGTGGACTCCCCACCCTaaa                             >  2:68807/1‑149 (MQ=255)
                                                                                                                   ggCGTTCGCGCCGCATCCGACATCCGGATTACCATGCCTGATACGACGCTTGTGCGTCTTTTCATGCCGACCAAAATATTACCCAATGAAATATCCACGCACCTCACTACGCTATTCTGGGTTGAACTGTGGATTCGCCCACATaaacc                           >  2:763474/1‑147 (MQ=255)
                                                                                                                     ggtgcgcgTCGCATCCGACATCCGGATCACCATGCCTGATACGACGCTTGTGCGTCTTTTCATGCCGACCAAAATATTACCACATGAAATATCCACGCACCTCACTGCGCTATTCTGGGTTGAACTGTGGATTCGCCAACATAAAgccg                         <  2:336041/145‑1 (MQ=255)
                                                                                                                      gtgcgcgCCGCATCCGGCTTCCGTATTACCATGCCGGAGACGACGCTTGGGCGTCTTTTCATGCCGACCAAAATATTCCCCAATGAAATATCCACGCACCTCACTGCGCTATTCTGGGTTGAACTGTGGATTCGCCAACATAAAgccgc                        <  2:512121/146‑1 (MQ=255)
                                                                                                                      gTTCGCGCCGCATCCGACATCCGGATTACCATGCCTGATACGACGCTTGTGCGTCTTTTCATGCCGACCACAATATTACCCAATGAAATATCCACGCACCTCACTGCGCTATTCTGGGTTGAACTGTGGATTCGCCAACATAAAgccgc                        <  1:956489/149‑1 (MQ=255)
                                                                                                                         cgcgCCGCATCCGACATCCGGATTACCATGCCTGATACGACGCTTGTGCGTCTTTTCATGCCGACCAAAATATTACCCAATGAAATATCCACGCACCTCACTGCGCTATTCTGGGTTGAACTGTGGATTCGCCAACATAAAGCCGCCAt                     <  2:569728/149‑1 (MQ=255)
                                                                                                                         cgcgCCGCATCCGACATCCGGATTACCATGCCTGATACGACGCTTGTGCGTCTTTTCATGCCGACCAAAATATTACCCAATGAAATATCCACGCACCTCACTGCGCTATTCTGGGTTGAACTGTGGATTCGCCAACATAAAGCCGCCAt                     <  2:570769/149‑1 (MQ=255)
                                                                                                                          gcgcCGCATCCGACATCCGGATTACCATGCCTGATACGACGCTTGTGCACCTGTTCATTCCGACCAAAATATTACCCAATGAAATATCCACGCACCTCACTGCGCTATTCTGGGTTGAACTGTGGATTCGCCAACATAAAGCCGCCATc                    >  1:203532/1‑149 (MQ=255)
                                                                                                                              cgcATCCGACATCCGGATTACCATGCCTGATACGACGCTTGTGCGTCTTTTCATGCCGACCAAAATATTACCCAATGAAATATCCACGCACCTCACTGCGCTATTCTGGGTTGAACGGTGGATTCGCCAACATAAAGCCGCCATCCACt                >  1:733571/1‑149 (MQ=255)
                                                                                                                                cATCCGACATCCGGATTACCATGCCTGATACGACGCTTGTGCGTCTTTTCATGCCGACCAAAATATTACCCAATGAAATATCCACGCACCTCACTGCGCTATTCTGGGTTGAACTGTGGATTCGCCAACATAAAGCCGCCATCCACTAt              >  1:318987/1‑149 (MQ=255)
                                                                                                                                   cccaCATCCGGATTACCATGCCTGATACGACGCTTGTGCGTCTTTTCATGCCGACCAAAATATTACCCAATGAAATATCCACGCTGCTCACTGCGCTATTCTGGGTTGAACTGTGGATTCGCCAACATAAAGCCGCCATCCACTATCaa           <  1:461782/146‑1 (MQ=255)
                                                                                                                                     gACATCCGGATTACCATGCCTGATACGACGCTTGTGCGTCTTTTCATGCCGACCAAAATATTACCCAATGAAATATCCACGCACCTCACTGCGCTATTCTGGGTTGAACTGTGGATTCGc                                      >  2:467636/1‑120 (MQ=255)
                                                                                                                                     gACATCCGGATTACCATGCCTGATACGACGCTTGTGCGTCTTTTCATGCCGACCAAAATATTACCCAATGAAATATCCACGCACCTCACTGCGCTATTCTGGGTTGAACTGTGGATTCGc                                      <  1:467636/120‑1 (MQ=255)
                                                                                                                                      aCATACGGATTACCATGCCTGATACGACGCTTGTGCGTCTTTTCATGCCGACCAAAATATTACCCAATGAAATATCCACGCACCTCACTGCGCTATTCTGGGTTGAACTGTGGATTCGCCAACATAAAGCCGCCATCCACTATCAGCGa        <  1:440989/149‑1 (MQ=255)
                                                                                                                                           cGGATTACCATGCCTGATACGACGCTTGTGCGTCTTTTCATGCCGACCAAAATATTACCCAATGAAATATCCACGCACCTCACTGCGCTATTCTGGGTTGAACTGTGGATTCGCCAACATAAAGCCGCCATCCACTATCAACGACTGcc   >  2:514626/1‑149 (MQ=255)
                                                                                                                                            ggATTACCATGCCTGATACGACGCTTGTGCGTCTTTTCATGCCGACTAAAATATTACCCAATGAAAAATCCACGCACCTCACTGAGCTATTCTGGGCTGAACTGTGGATTCGCCAACATAAAGCCGCCATCCACTATCAACGTCTGccc  >  1:938743/1‑149 (MQ=255)
                                                                                                                                               |                                                                                                                                                 
GCACTGGGTCTGGTTGATTCTGGTCGTGGTTCTGGTGGTGGGCGTGCGCTGGTGGCTGAAACGACGCGGGAAGAAAAAGCCGGATCATCAGGCGTAAAACCATTGCCCTGGATAAGGCGTTCGCGCCGCATCCGACATCCGGAGTACCATGCCTGATACGACGCTTGTGCGTCTTTTCATGCCGACCAAAATATTACCCAATGAAATATCCACGCACCTCACTGCGCTATTCTGGGTTGAACTGTGGATTCGCCAACATAAAGCCGCCATCCACTATCAACGACTGCCC  >  NC_000913_3_hsa_tpiA/2226283‑2226571

Alignment Legend
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 8 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 32 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG
Unaligned base: atcg    Masked matching base: atcg    Alignment gap:     Deleted base: