Predicted mutation
evidence seq id position mutation annotation gene description
RA NC_000913_3_hsa_tpiA 1,774,576 G→A G263E (GGG→GAG)  ydiB → quinate/shikimate 5‑dehydrogenase, NAD(P)‑binding

Read alignment evidence...
  seq id position ref new freq score (cons/poly) reads annotation genes product
*NC_000913_3_hsa_tpiA1,774,5760GA98.0% 146.5 / ‑4.4 49G263E (GGG→GAG) ydiBquinate/shikimate 5‑dehydrogenase, NAD(P)‑binding
Reads supporting (aligned to +/- strand):  ref base G (1/0);  new base A (22/26);  total (23/26)
Fisher's exact test for biased strand distribution p-value = 4.69e-01
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 6.87e-01

ATCATTGGTTAATGATATCAGTCTGTTACATCCGGGACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGGGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAATGAAAACCGTAACTGTAAAAGATCTCGTCATTGGT  >  NC_000913_3_hsa_tpiA/1774430‑1774721
                                                                                                                                                  |                                                                                                                                                 
atCATTGGTTAATGATATCAGTCTGTTACATCCGGGACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAgagg                                                                                                                                                 <  2:565932/149‑1 (MQ=255)
    ttGGTTAATGATATCAGTCTGTTACATCCGGGACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGa                                                                                                                                             >  2:725784/1‑149 (MQ=255)
          aaTGATATCAGTCTGTTACATCCGGGACTTCTGGTCACTGAATGCGTGTATAAACCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGtt                                                                                                                                       <  2:136023/149‑1 (MQ=255)
            tGATATCAGTCTGTTACATCCGGGACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCAAGTTGTTGTGGCAAGAGGCTGAACAGTTca                                                                                                                                     >  1:212148/1‑149 (MQ=255)
              atatCAGTTTGTTACATCCGGGACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTcaca                                                                                                                                   <  1:2610/149‑1 (MQ=255)
               tatCAGTCTGTTACATCCGGGACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGAAGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCGAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACAt                                                                                                                                  >  2:626172/1‑149 (MQ=255)
                        gTTACATCCGGGACTTCTGGGCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTg                                                                                                                         <  1:551655/149‑1 (MQ=255)
                             aTCCGGGACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTgg                                                                                                                        >  1:521070/1‑145 (MQ=255)
                             aTCCGGGACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTgg                                                                                                                        <  2:521070/145‑1 (MQ=255)
                              tCCGGGACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGGCGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAg                                                                                                                   >  2:321966/1‑149 (MQ=255)
                               ccGGGACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCCGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGa                                                                                                                  <  1:625084/149‑1 (MQ=255)
                               ccGGGACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGa                                                                                                                  <  1:625004/149‑1 (MQ=255)
                               ccGGGACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGa                                                                                                                  >  1:272704/1‑149 (MQ=255)
                                  ttcgatCTGGT‑ACTGAATGCGTGTATAACCCGCATATGACGAAGTTATAGCAGCAGGCGCAACTAGCTGGTTGCAAAACGATTGATTGATACGGCATGTCGTACTGGCAAGAGGCTGAACAGTTCACATTATCGTCTCGCAAAGATTTc                                                                                                              <  2:748169/144‑1 (MQ=255)
                                        cTGGTCACTGAATGCGTGTATAACCCGCAAATGACGAAGTTATTGCAGCAGGCGTAATAAGGTGGTTGCAGAACGATTGATGGATACGGCATGTTGTTGTGGCTAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCGctct                                                                                                         >  1:698313/1‑149 (MQ=255)
                                           gTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGa                                                                                                      >  2:262262/1‑149 (MQ=255)
                                             cACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAat                                                                                                    >  2:561021/1‑149 (MQ=255)
                                               cTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTGGTGGCAAGAGGCTGAAAAGTTCCCATTATGGACTGGCAAAGATTTCCCTCTGGAatat                                                                                                  <  1:233743/149‑1 (MQ=255)
                                                tGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGCCAACGATTTCCCTCCGGActatt                                                                                                 >  2:581550/1‑148 (MQ=255)
                                                ggAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATg                                                                                                 >  2:221548/2‑149 (MQ=255)
                                                 gAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGt                                                                                                <  2:332424/149‑1 (MQ=255)
                                                  aaTGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGtt                                                                                               <  1:221548/149‑1 (MQ=255)
                                                     gCGTGTATAACCCGCATATGACGAACTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTaaa                                                                                            <  2:641737/149‑1 (MQ=255)
                                                       gtgtATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACa                                                                                          <  1:319906/149‑1 (MQ=255)
                                                       gtgtATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACa                                                                                          >  2:127250/1‑149 (MQ=255)
                                                        tgtATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGGTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAg                                                                                         <  2:422068/149‑1 (MQ=255)
                                                         gtATCACCCGCGTATGACGAAGTTATAGCAGCCGGCTCAACAAGCTGGTCGCGAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGACCAGTTCCCATTCTGGACTCGCACAGATTTCCCTCTGGGATATGGTACTCAgg                                                                                        >  2:52165/1‑149 (MQ=255)
                                                          tataACCCGCATATGACCAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGt                                                                                       <  1:262262/149‑1 (MQ=255)
                                                          tataACCCGCAAATGACGAAGTTATTGCAGCAGGCGCAACAAGCTCGTTGCAAAACGATTGAGGGATACGGCATGTTGTTGTAGCGAGAGGCTGAACAGTGCACATTATGGACTGGCAAAGATTTCCCTCTGGAAAAGGTTAAAAAGGt                                                                                       >  2:748482/1‑149 (MQ=255)
                                                               cccGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATgg                                                                                  >  1:139760/1‑149 (MQ=255)
                                                               cccGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATgg                                                                                  <  1:271130/149‑1 (MQ=255)
                                                                ccGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGCTGGGTTTAGCATGTTGCAGCCTGCTTGGGCTGAACAGTGCACATCATGGTGTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATggg                                                                                 >  1:405815/1‑149 (MQ=255)
                                                                        gACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTg                                                                         <  1:626172/149‑1 (MQ=255)
                                                                        gACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTg                                                                         >  1:350939/1‑149 (MQ=255)
                                                                           gAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGTAATATGTTAAACAGGTCATGGGGTTCGTTGCCt                                                                      >  2:476699/1‑149 (MQ=255)
                                                                           gAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCt                                                                      <  1:127250/149‑1 (MQ=255)
                                                                              gTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGAc                                                                   >  1:493765/1‑149 (MQ=255)
                                                                                     cagcagGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGa                                                            <  2:405815/149‑1 (MQ=255)
                                                                                           gcgcAAGAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGt                                                      <  1:160366/149‑1 (MQ=255)
                                                                                               aacaaGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGGTAAACAGGTCCTGGGGTTCGGTGCCTGACAGGCTGACCGCGTCCAg                                                  >  2:540269/1‑149 (MQ=255)
                                                                                                          tGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTaaaa                                       <  1:321966/149‑1 (MQ=255)
                                                                                                             aaaaCGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAAt                                    <  2:272704/149‑1 (MQ=255)
                                                                                                             aaaaCGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAAt                                    <  1:7865/149‑1 (MQ=255)
                                                                                                             aaaaCGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATAAGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAAt                                    <  2:212148/149‑1 (MQ=255)
                                                                                                                   aTTGAGCGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCTTGCAGAAAGGGTAAAAAATGAAAAc                              <  1:748482/149‑1 (MQ=255)
                                                                                                                                gCATGTTGTTGTGACAAGATGCTGAACAGAACAAATTATTGCCTGCTACCGATTACGCTCTGGACTATGTCAACCAGGTCATGGGTATCGGAGCCTGACAGGCTGACGACGTGCGGAAAGGGTAAAAAATGAAAACCGCAAGTgcacaa                 >  2:407005/1‑144 (MQ=255)
                                                                                                                                   tgttggtgtGGAAAGAGGCTTAATAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGAAATATGTTAAACAGGTAATGGGGTTTGGGGCCTCACAGGCTGACAGCGTGCAGAAATGGTAAAAAATGAAAACCGTAACTGTAAAAGAt              <  2:19898/149‑1 (MQ=255)
                                                                                                                                      tgtggtGGTAAGAGGCTGAACAGTTCACATTATGGCCTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAATGAAAACCGTAACTGTAAAAGAtctc           <  1:99946/149‑1 (MQ=255)
                                                                                                                                       gttgtGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAATGAAAACCGTAACTGTAAAAGATCTCg          >  2:507083/1‑149 (MQ=255)
                                                                                                                                               aaGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAATGAAAACCGTAACTGTAAAAGATGTCGTCATTgtt  >  1:639677/1‑147 (MQ=255)
                                                                                                                                                  |                                                                                                                                                 
ATCATTGGTTAATGATATCAGTCTGTTACATCCGGGACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGGGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAATGAAAACCGTAACTGTAAAAGATCTCGTCATTGGT  >  NC_000913_3_hsa_tpiA/1774430‑1774721

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: ‑