Predicted mutation
evidence seq id position mutation annotation gene description
RA NC_000913_3_hsa_tpiA 1,726,378 C→A S119* (TCA→TAA)  nemR → transcriptional repressor for the nemRA‑gloA operon, quinone‑, glyoxal‑, and HOCl‑activated

Read alignment evidence...
  seq id position ref new freq score (cons/poly) reads annotation genes product
*NC_000913_3_hsa_tpiA1,726,3780CA94.1% 165.8 / 2.7 51S119* (TCA→TAA) nemRtranscriptional repressor for the nemRA‑gloA operon, quinone‑, glyoxal‑, and HOCl‑activated
Reads supporting (aligned to +/- strand):  ref base C (1/2);  new base A (25/23);  total (26/25)
Fisher's exact test for biased strand distribution p-value = 6.10e-01
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 8.87e-01

GACTGACTGAGTTGCTGCAATCCGGCGAAGGTAACTACCGCGACCGCATACTGGCTTATTACCAGCAAACACTGAACCAGTTTTGCCAACATGGAACCATCAGTGGTTGCCTGACAGTAAAACTCTCTGCCGAAGTGTGCGATCTGTCAGAAGATATGCGCAGCGCGATGGATAAAGGTGCTCGCGGCGTGATCGCCCTGCTCTCTCAGGCGCTGGAAAATGGCCGTGAGAACCATTGTTTAACCTTTTGTGGCGAACCGCTGCAACAGGCACAAGTGCTTTACGCACTGTGG  >  NC_000913_3_hsa_tpiA/1726231‑1726523
                                                                                                                                                   |                                                                                                                                                 
gactgactGAGTTGCTGCAATCCGGCGAAGGTAACTACCGCGACCGCATACTGGCTGGTTACCAGCAAACACTGAGCCAGTTTTGCCAACATGGAACCATCAGTGGTTGCCTGACAGTAAAACTCTCTGCCGAAGTGTGCGATCTGTAag                                                                                                                                                 <  3:402070/150‑1 (MQ=255)
   tgactgaGTTGCTGCAATCCGGCGAAGGTAACTACCGCGACCGCATACTGGCTTATTACCAGCAAACACTGAACCAGTTTTGCCAACATGGAACCATCAGTGGTTGCCTGACAGTAAAACTCTCTGCCGAAGTGTGCGATCTGTaagaag                                                                                                                                              >  2:815337/1‑150 (MQ=255)
   tgactgaGTTGCTGCAATCCGGCGAAGGTAACTACCGCGACCGCATACTGGCTTATGACCAGCAAACACTGAACCAGTTTTGCCAACATGGAACCATCAGTGATTTCCTGACAGTAAAACTCTCTGCCGAAGTGTGAGATATGTAagaaa                                                                                                                                              >  1:594904/1‑149 (MQ=255)
    gactgaGTTGCTGCAATCCGGCGAAGGTAACTACCGCGACCGCATACTGGCTTATTACCAGCAAACACTGAACCAGTTTTGCCAACATGGAACCATCAGTGGTTGCCTGACAGTAAAACTCTCTGCCGAAGTGTGCGATCTGTAagaaga                                                                                                                                             <  2:270172/150‑1 (MQ=255)
           ttGCTGCGATCCGGCGAAGGTAACTACCGCGACCGCATACTGGCTTATTACCAGCAAACACTGAACCAGTTTTGCCAACATGGAACCATCAGTGGTTGCCTGACAGTAAAACTCTCTGCCGAAGTGTGCGATCTGTAAGAAGATATgcgc                                                                                                                                      <  2:809266/150‑1 (MQ=255)
            tgctgcAATCCGGCGAAGGTAACTACCGCGACCGCATACTGGCTTATTACCAGCAAACACTGAACCAGTTTTGCCAACATGGAACCATCAGTGGTTGCCTGACAGTAAAACTCTCTGCCGAAGTGTGCGATCTGTAAGAAGATATGCGCa                                                                                                                                     >  2:629059/1‑150 (MQ=255)
               tgcAATCCGGCGAAGGTAACTACCGCGACCGCATACTGGCTTATTACCAGCAAACACTGAACCAGTTTTGCCAACATGGAACCATCAGTGGTTGCCTGACAGTAAAACTCTCTGCCGAAGTGTGCGATCTGTAAGAAGATATGCGCAgcg                                                                                                                                  >  1:287076/1‑150 (MQ=255)
                  aaTCCGGCGAAGGTAACTACCGCGACCGCATACTGGCTTATTACCAGCAAACACTGAACCAGTTTTGCCAACATGGAACCATCAGTGGTTGCCTGACAGTAAAACTCTCTGCCGAAGTGTGCGATCTGTAAGAAGATATGCGCAGCGCGa                                                                                                                               <  1:682412/150‑1 (MQ=255)
                      cGGCGAAGGTAACTACCGCGACCGCATACTGGCTTATTACCAGCAAACACTGAACCAGTTTTGCCAACATGGAACCATCAGTGGTTGCCTGACAGTAAAACTCTCTGCCGAAGTGTGCGATCTGTAAGAAGATATGCGCAGCGCGATggc                                                                                                                           >  2:464697/1‑149 (MQ=255)
                       ggCGAAGGTAACTACCGCGACCGCATACTGGCTTATTACCAGCAAACACTGAACCAGTTTTGCCAACATGGAACCATCAGTGGTTGCCTGACAGTAAAACTCTCTGCCGAAGTGTGCGATCTGTCAGAAGATATGCGCAGCGCGATGGAt                                                                                                                          >  1:41011/1‑150 (MQ=255)
                            aGGTAACTACCGCGACCGCATACTGGCTTATTACCAGCAAACACTGAACCAGTTTTGCCAACATGGAACCATCAGTGGTTGCCTGACAGTAAAACTCTCTGCCGAAGTGTGCGATCTGTAAGAAGATATGCGCAGCGCGATGGATAAAgg                                                                                                                     <  2:287076/150‑1 (MQ=255)
                              gTAACTACCGCGACCGCATACTGGCTTATTACCAGCAAACACTGAACCAGTTTTGCCAACATGGAACCATCAGTGGTTGCCTGACAGTAAAACTCTCTGCCGAAGTGTGCGATCTGTAAGAAGATATGCGCAGCGCGATGGATAAAGGTg                                                                                                                   <  1:657312/150‑1 (MQ=255)
                              gTAACTACCGCGACCGCATACTGGCTTATTACCAGCAAACACTGAACCAGATTTGCCAACATGGAACCATCAGTGGTTGCCTGACAGTAAAACTCTCTGCCGAAGTGTGCGATCTGTAAGAAGATATGCGCAGCGCGATGGATAAAGGTg                                                                                                                   >  3:380565/1‑150 (MQ=255)
                                   tACCGCGACCGCATACTGGCTTATTACCAGCAAACACTGAACCAGTTTTGCCAACATGGAACCATCAGTGGTTGCCTGACAGTAAAACTCTCTGCCGAAGTGTGCGATCTGTAAGAAGATATGCGCAGCGCGCTGGATAAAGGTGCTcgc                                                                                                              >  2:787767/1‑150 (MQ=255)
                                           ccGCATACTGGCTTATTACCAGCAAACACTGAACCAGTTTTGCCAACATGGAACCATCAGTGGTTGCCTGACAGTAAAACTCTCTGCCGAAGTGTGCGATCTGTAAGAAGATATGCGCAGCGCGATGGATAAAGGTGCTCGCGGCGTGAt                                                                                                      >  4:151551/1‑150 (MQ=255)
                                            cGCATACTGGCTTATTACCAGCAAACACTGAACCAGTTTTGCCAACATGGAACCATCAGTGGTTGCCTGACAGTAAAACTCTCTGCCGAAGTGTGCGATCTGTAAGAAGATATGCGCAGCGCGATGGATAAAGGTGCTCGCGGCGTGATc                                                                                                     <  2:350526/150‑1 (MQ=255)
                                             gCATACTGGCTTATTACCAGCAAACACTGAACCAGTTTTGCCAACATGGAACCATCAGTGGTTGCCTGACAGTAAAACTCTCTGCCGAAGTGTGCGATCTGTAAGAAGATATGCGCAGCGCGATGGATAAAGGTGCTCGCGGCGTGATCg                                                                                                    <  2:671379/150‑1 (MQ=255)
                                              cATACTGGCTTATTACCAGCAAACACTGAACCAGTTTTGCCAACATGGAACCATCAGTGGTTGCCTGACAGTAAAACTCTCTGCCGAAGTGTGCGATCTGTAAGAAGATATGCGCAGCGCGATGGATAAAGGTGCTCGCGGCGTGATCGc                                                                                                   >  2:833851/1‑150 (MQ=255)
                                               aTACTGGCTTATTACCAGCAAACACTGAACCAGTTTTGCCAACATGGAACCATCAGTGGTTGCCTGACAGTAAAACTCTCTGCCGAAGTGTGCGATCTGTAAGAAGATATGCGCAGCGCGATGGATAAAGGTGCTCGCGGCGTGATCGcc                                                                                                  <  1:581761/150‑1 (MQ=255)
                                                 aCTGGCTTATTACCAGCAAACACTGAACCAGTTTTGCCAACATGGAACCATCAGTGGTTGCCTGACAGTAAAACTCTCTGCCGAAGTGTGCGATCTGTAAGAAGATATGCGCAGCGCGATGGATAAAGGTGCTCGCGGCGTGATCGCCCt                                                                                                <  2:752557/150‑1 (MQ=255)
                                                    ggCTTATTACCAGCAAACACTGAACCAGTTTTGCCAACATGGAACCATCAGTGGTTGCCTGACAGTAAAACTCTCTGCCGAAGTGTGCGATCTGTCAGAAGATATGCGCAGCGCGATGGATAAAGGTGCTCGCGGCGTGATCGCCCTGct                                                                                             <  2:41011/150‑1 (MQ=255)
                                                      cTTATTACCAGCAAACACTGAACCAGTTTTGCCAACATGGAACCATCAGTGGTTGCCTGACAGTAAAACTCTCTGCCGAAGTGTGCGATCTGTAAGAAGATATGCGCAGCGCGATGGATAAAGGTGCTCGCGGCGTGATCGCCCTGctct                                                                                           <  1:513815/150‑1 (MQ=255)
                                                          ttaCCAGCAAACACTGAACCAGTTTTGCCAACATGGAACCATCAGTGGTTGCCTGACAGTAAAACTCTCTGCCGAAGTGTGCGATCTGTAAGAAGATATGCGCAGCGCGATGGATAAAGGTGCTCGCGGCGTGATCGCCCTGCTCTCTCa                                                                                       <  4:152030/150‑1 (MQ=255)
                                                                    acacTGAACCAGTTTTGCCAACATGGAACCATCAGTGGTTGCCTGACAGTAAAACTCTCTGCCGAAGTGTGCGATCTGTAAGAAGATATgcgc                                                                                                                                      >  2:720470/1‑93 (MQ=255)
                                                                    acacTGAACCAGTTTTGCCAACATGGAACCATCAGTGGTTGCCTGACAGTAAAACTCTCTGCCGAAGTGTGCGATCTGTAAGAAGATATgcgc                                                                                                                                      <  1:720470/93‑1 (MQ=255)
                                                                      acTGAACCAGTTTTGCCAACATGGAACCATCAGTGGTTGCCTGACAGTAAAACTCTCTGCCGAAGTGTGCGATCTGTAAGAAGATATGCGCAGCGCGATGGATAAAGGTGCTCGCGGCGTGATCGCCCTGCTCTCTCAGGCGCTGGaaaa                                                                           >  3:104494/1‑150 (MQ=255)
                                                                            ccAGTTTTGCCAACATGGAACCATCAGTGGTTGCCTGACAGTAAAACTCTCTGCCGAAGTGTGCGATCTGTAAGAAGATATGCGCAGCGCGATGGATAAAGGTGCTCGCGGCGTGATCGCCCTGCTCTCTCAGGCGCTGGAAAATGGCCg                                                                     >  3:281023/1‑150 (MQ=255)
                                                                             cAGTTTTGCCAACATGGAACCAGCGGTGGTTGCCTGACAGTAAAACTCTCTGCCGAAGTGTGCGATCTGTAAGAAGATATGCGCAGCGCGATGGATAAAGGTGCTCGCGGCGTGATCGCCCTGCTCTCTCAGGCGCTGGAAAACGGCCGt                                                                    >  2:715076/1‑150 (MQ=255)
                                                                               gTTTTGCCAACATGGAACCATCAGTGGTTGCCTGACAGTAAAACTCTCTGCCGAAGTGTGCGATCTGTAAGAAGATATGCGCAGCGCGATGGATAACGGTGCTCGCGGCGTGATCGCCCTGCTCTCTCAGGCGCTGGAAAATGGCCGTga                                                                  <  1:629059/150‑1 (MQ=255)
                                                                               gTTTTGCCAACATGGAACCATCAGTGGTTGCCTGACAGTAAAACTCTCTGCCGAAGTGTGCGATCTGTAAGAAGATATGCGCAGCGCGATGGATAAAGGTGCTCGCGGCGTGATCGCCCTGCTCTCTCAGGCGCTGGAAAATGGCCGTga                                                                  >  4:343250/1‑150 (MQ=255)
                                                                                      cAACATGGAACCATCAGTGGTTGCCTGACAGTAAAACTCTCTGCCGAAGTGTGCGATCTGTAAGAAGATATGCGCAGCGCGATGGATAAAGGTGCTCGCGGCGTGATCGCCCTGCTCTCTCAGGCGCTGGAAAATGGCCGTGAGAACCAt                                                           >  3:395200/1‑150 (MQ=255)
                                                                                      cAACATGGAACCATCAGTGGTTGCCTGACAGTAAAACTCTCTGCCGAAGTGTGCGATCTGTAAGAAGATATGCGCAGCGCGATGGATAAAGGTGCTCGCGGCGTGATCGCCCTGCTCTCTCAGGCGCTGGAAAATGGCCGTGAGAACCAt                                                           >  1:66482/1‑150 (MQ=255)
                                                                                       aaCATGGAACCATCAGTGGTTGCCTGACAGTAAAACTCTCTGCCGAAGTGTGCGATCTGTAAGAAGATATGCGCAGCGCGATGGATAAAGGTGCTCGCGGCGTGATCGCCCTGCTCTCTCAGGCGCTGGAAAATGGCCGTGAGAACCAtt                                                          <  4:104494/150‑1 (MQ=255)
                                                                                       aaCATGGAACCATCAGTGGTTGCCTGACAGTAAAACTCTCTGCCGAAGTGTGCGATCTGTAAGAAGATATGCGCAGCGCGATGGATAAAGGTGCTCGCGGCGTGATCGCCCTGCTCTCTCAGGCGCTGGAAAATGGCCGTGAGAACCAtt                                                          <  4:380565/150‑1 (MQ=255)
                                                                                         cATGGAACCATCAGTGGTTGCCTGACAGTAAAACTCTCTGCCGAAGTGTGCGATCTGTAAGAAGATATGCGCAGCGCGATGGATAAAGGTGCTCGCGGCGTGATCGCCCTGCTCTCTCAGGCGCTGGAAAATGGCCGTGAGAACCATTGt                                                        <  2:31780/150‑1 (MQ=255)
                                                                                          aTGGAACCATCAGTGGTTGCCTGACAGTAAAACTCTCTGCCGAAGTGTGCGATCTGTAAGAAGATATGCGCAGCGCGATGGATAAAGGTGCTCGCGGCGTGATCGCCCTGCTCTCTCAGGCGCTGGAAAATGGCCGTGAGAACCATTGtt                                                       >  1:766271/1‑150 (MQ=255)
                                                                                              aaCCATCAGTGGTTGCCTGACAGTAAAACTCTCTGCCGAAGTGTGCGATCTGTAAGAAGATATGCGCAGCGCGATGGATAAAGGTGCTCGCGGCGTGATCGCCCTGCTCTCTCAGGCGCTGGAAAATGGCCGTGAGAACCATTGTTTAAc                                                   <  4:281023/150‑1 (MQ=255)
                                                                                              aaCCATCAGTGGTTGCCTGACAGTAAAACTCTCTGCCGAAGTGTGCGATCTGTAAGAAGATATGCGCAGCGCGATGGATAAAGGTGCTCGCGGCGTGATCGCCCTGCTCTCTCAGGCGCTGGAAAATGGCCGTGAGAACCATTGTTTAAc                                                   >  3:460156/1‑150 (MQ=255)
                                                                                               aCCATCAGTGGTTGCCTGACAGTAAAACTCTCTGCCGAAGTGTGCGATCTGTAAGAAGATATGCGCAGCGCGATGGATAAAGGTGCTCGCGGCGTGATCGCCCTGCTCTCTCAGGCGCTGGAAAATGGCCGTGAGAACCATTGTTTAAcc                                                  <  1:815337/150‑1 (MQ=255)
                                                                                                 cATCAGTGGTTGCCTGACAGTAAAACTCTCTGCCGAAGTGTGCGATCTGTAAGAAGATATGCGCAGCGCGATGGATAAAGGTGCTCGCGGCGTGATCGCCCTGCTCTCTCAGGCGCTGGAAAATGGCCGTGAGAACCATTGTTTAACCtt                                                >  4:52893/1‑150 (MQ=255)
                                                                                                     aGTGGTTGCCTGACAGTAAAACTCTCTGCCGAAGTGTGCGATCTGTAAGAAGATATGCGCAGCGCGATGGATAAAGGTGCTCGCGGCGTGATCGCCCTGCTCTCTCAGGCGCTGGAAAATGGCCGTGAGAACCATTGTTTAACCTTTtgt                                            <  1:450621/150‑1 (MQ=255)
                                                                                                      gTGGTTGCCTGACAGTAAAACTCTCTGCCGAAGTGTGCGATCTGTAAGAAGATATGCGCAGCGCGATGGATAAAGGt                                                                                                                    <  3:33040/77‑1 (MQ=255)
                                                                                                      gTGGTTGCCTGACAGTAAAACTCTCTGCCGAAGTGTGCGATCTGTAAGAAGATATGCGCAGCGCGATGGATAAAGGt                                                                                                                    >  4:33040/1‑77 (MQ=255)
                                                                                                            gCCTGACAGTAAAACTCTCTGCCGAAGTGTGCGATCTGTAAGAAGATATGCGCAGCGCGATGGATAAAGGTGCTCGCGGCGTGATCGCCCTGCTCTCTCAGGCGCTGGAAAATGGCCGTGAGAACCATTGTTTAACCTTTTGTGGCGAAc                                     >  3:499515/1‑150 (MQ=255)
                                                                                                             ccTGACAGTAAAACTCTCTGCCGAAGTGTGCGATCTGTAAGAAGATCTGCGCAGAGCGATGGATAAAGGTGCTCGCGGCGTGATCGCCCTGCTCTCTCAGGCGCTGGAAAATGGCCGTGAGAACCATTGTTTCACCTTCTGTGGCGCAcc                                    >  4:48928/1‑150 (MQ=255)
                                                                                                                        aaCTCTCTGCCGAAGTGTGCGATCTGTCAGAAGATATGCGCAGCGCGATGGATAAAGGTGCTCGCGGCGTGATCGCCCTGCTCTCTCAGGCGCTGGAAAATGGCCGTGAGAACCATTGTTTAACCTTTTGTGGCGAACCGCTGCAACAgg                         <  1:702587/150‑1 (MQ=255)
                                                                                                                             tctGCCGAAGTGTGCGATCTGTAAGAAGATATGCGCAGCGCGATGGATAAAGGTGCTCGCGGCGTGATCGCCCTGCTCTCTCAGGCGCTGGAAAATGGCCGTGAGAACCATTGTTTAACCTTTTGTGGCGAACCGCTGCAACAGGCACaa                    >  2:239085/1‑150 (MQ=255)
                                                                                                                                   gAAGTGTGCGATCTGTAAGAAGATATGCGCAGCGCGATGGATAAAGGTGCTCGCGGCGTGATCGCCCTGCTCTCTCAGGCGCTGGAAAATGGCCGTGAGAACCATTGTTTAACCTTTTGTGGCGAACCGCTGCAACAGGCACAAGTGCtt              >  4:282004/1‑150 (MQ=255)
                                                                                                                                    aaGTGTGCGATCTGTAAGAAGATATGCGCAGCGCGATGGATAAAGGTGCTCGCGGCGTGATCGCCCTGCTCTCTCAGGCGCTGGAAAATGGCCGTGAGAACCATTGTTTAACCTTTTGTGGCGAACCGCTGCAACAGGCACAAGTGCttt             <  1:562071/150‑1 (MQ=255)
                                                                                                                                              tCTGTAAGAAGATATGCGCAGCGCGATGGATAAAGGTGCTCGCGGCGTGATCGCCCTGCTCTCTCAGGCGCTGGAAAATGGCCGTGAGAACCATTGTTTAACCTTTTGTGGCGAACCGCTGCAACAGGCACAAGTGCTTTACGCACtgtg   >  1:241924/1‑150 (MQ=255)
                                                                                                                                              tCTGTAAGAAGATATGCGCAGCGCGATGGATAAAGGTGCTCGCGGCGTGATCGCCCTGCTCTCTCAGGCGCTGGAAAATGGCCGTGAGAACCAGTGTGTAACCTTTTGTGGCGAACCGCTGCAACAGGCACAAGTGCTTTACGCACtgtg   >  1:169786/1‑150 (MQ=255)
                                                                                                                                               cTGTAAGAAGATATGCGCAGCGCGATGGATAAAGGTGCTCGCGGCGTGATCGCCCTGCTCTCTCAGGCGCTGGAAAATGGCCGTGAGAACCATTGTTTAACCTTTTGTGGCGAACCGCTGCAACAGGCACAAGTGCTTTACGCACTGTgg  <  4:186904/150‑1 (MQ=255)
                                                                                                                                                   |                                                                                                                                                 
GACTGACTGAGTTGCTGCAATCCGGCGAAGGTAACTACCGCGACCGCATACTGGCTTATTACCAGCAAACACTGAACCAGTTTTGCCAACATGGAACCATCAGTGGTTGCCTGACAGTAAAACTCTCTGCCGAAGTGTGCGATCTGTCAGAAGATATGCGCAGCGCGATGGATAAAGGTGCTCGCGGCGTGATCGCCCTGCTCTCTCAGGCGCTGGAAAATGGCCGTGAGAACCATTGTTTAACCTTTTGTGGCGAACCGCTGCAACAGGCACAAGTGCTTTACGCACTGTGG  >  NC_000913_3_hsa_tpiA/1726231‑1726523

Alignment Legend
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 27 ≤ ATCG/ATCG < 37 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG
Unaligned base: atcg    Masked matching base: atcg    Alignment gap: ‑    Deleted base: ‑