Predicted mutation
evidence seq id position mutation annotation gene description
RA NC_000913_3_hsa_tpiA 264,098 G→T L50L (CTC→CTA ykfH ← uncharacterized protein

Read alignment evidence...
  seq id position ref new freq score (cons/poly) reads annotation genes product
*NC_000913_3_hsa_tpiA264,0980GT98.1% 162.8 / NA 52L50L (CTC→CTAykfHuncharacterized protein
Reads supporting (aligned to +/- strand):  ref base G (0/0);  major base T (31/20);  minor base C (1/0);  total (32/20)
Fisher's exact test for biased strand distribution p-value = 1.00e+00
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 1.00e+00

GGGCTCCCAGGCGCAGTGTAATCTCCCGCTGCAGGCCCCTGGTAGGGTTGCTCATTACAGTTCTCCACTATTGTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCGAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGCCGGTGCAGTAGCGAAAGATTCGGGACTCAGGATGCTGGCGGTATATCGTCATTGCCCTGCGTTTACT  >  NC_000913_3_hsa_tpiA/263953‑264235
                                                                                                                                                 |                                                                                                                                         
gggCTCCCAGGCGCAGTGTAATCTCCCGCTGCAGGCCCCTGGTAGGGTTGCTCATTACAGTTCTCCACTATTGTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAgg                                                                                                                                        >  1:712091/1‑149 (MQ=255)
gggCTCCCAGGCGCAGTGTAATCTCCCGCTGCAGGCCCCTGGTAGGGTTGCTCATTACAGTTCTCCACTATTGTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCCAgg                                                                                                                                        >  1:226832/1‑149 (MQ=255)
  gCTCCCAGGCGCAGTGCAATCCCCCGCTGCAGGCCCCTGGTAGGGTTGCTCATTACAGTTCTCCACTATTGTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGAc                                                                                                                                      <  1:14046/149‑1 (MQ=255)
    tCCCAGGCGCAGTGTAATCTCCCGCTGCAGGCCCCTGGTAGGGTTGCTCATTACAGTTCTCCACTATTGTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCTCTAGGACTc                                                                                                                                    >  1:459843/1‑149 (MQ=255)
                   aaTCTCCCGCTGCAGGCCCCTGGTAGGGTTGCTCATTACAGTTCTCCACTATTGTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGaa                                                                                                                     >  2:778831/1‑149 (MQ=255)
                     tctcCCGCTGCAGGCCCCTGGTAGGGTTGCTCATTACAGTTCTCCACTATTGTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGGGATATCCGGAACg                                                                                                                   >  2:431359/1‑149 (MQ=255)
                               cAGGCCCCTGGTAGGGTTGCTCATTACAGTTCTCCACTATTGTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCgg                                                                                                         <  2:179731/149‑1 (MQ=255)
                                aGGCGCCTGGTAGGGTTGCTTATTACGGTTCTCCACTATTGTCAGATCAGGGTGATGCTCATCAGGCAGGTATAGGGCCCATTGTGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATAGCCGGAACGTCCCTGCCGgt                                                                                                        <  2:891260/149‑1 (MQ=255)
                                    cccTGGTAGGGTTGCTCATTACAGTTCTCCACTATTGTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTaa                                                                                                    <  2:57931/149‑1 (MQ=255)
                                      cTGGTAGGGTTGCTCATTACAGTTCTCCACTATTGTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATg                                                                                                  >  1:1052403/1‑149 (MQ=255)
                                            agtttGCTCATTACTTGTCTTCTTTATTGTCGGTTCAGGTTGATGCTCATGAGGCAGGTATAGGGCCCATTGCGGTCCTGTCGGCGTTCGGCGTATATCGCTAGGACTCCGGCGATATCCGGAACGTCTCTGCCGGTGTAATGACAGAc                                                                                            <  2:657383/146‑1 (MQ=18)
                                              gTTGCTCATTACAGTTCTCCACTATTGTCAGGTCAGGGTGATGCTCATCAGGCAGGTATAGGCCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTGCCTGCCGGTGTAATGACAGACga                                                                                          >  1:828465/1‑148 (MQ=255)
                                                     aTTACAGTTCTCCACTATTGTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTg                                                                                   >  2:441816/1‑149 (MQ=255)
                                                      ttACAGTTCTCCACTATTGTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAAAGTCCCTCCCGGTGTAATGACACACGGTACCGTGc                                                                                  >  2:712664/1‑149 (MQ=255)
                                                          aGTTCTCCACTATTGTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACCGACGCTACCTTGccccc                                                                              >  2:566405/1‑146 (MQ=255)
                                                              ctcCACTATTGTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTa                                                                          <  2:65958/149‑1 (MQ=255)
                                                              ctcCACTATTGTCAGTTCAGGGTGATGCTCAACAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTa                                                                          <  1:389816/149‑1 (MQ=255)
                                                               tcCACTATTGTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTAt                                                                         >  2:772771/1‑149 (MQ=255)
                                                                 cACTATTGTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGGGTAATGACAGACGCTACCGTGCCCCTGGGAttt                                                                       >  1:433972/1‑149 (MQ=255)
                                                                 cACTATTGTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAAAGTCCCTGCCGGTGTAATGACAGACGCTACCATGCCACTGCTCttt                                                                       >  2:28457/1‑149 (MQ=25)
                                                                 cACTATTGTCAGATCAGGGCGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTGGGCGTATACCGCTAGGCCTCCGGCGATATCCGGAACGTCCATGCCGGGGTACGAGCAGCAGCTACCGTGCCACTGGTGttg                                                                       >  2:286690/1‑148 (MQ=255)
                                                                   cTATTGTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCATGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGc                                                                     >  2:1014488/1‑149 (MQ=255)
                                                                     aTTGTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGCCg                                                                   <  1:441816/149‑1 (MQ=255)
                                                                        gTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGc                                                                                          >  1:776507/1‑123 (MQ=255)
                                                                        gTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGc                                                                                          <  2:776507/123‑1 (MQ=255)
                                                                                aGGGTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGCCGGTGCAGTAGCg                                                        >  1:712898/1‑149 (MQ=255)
                                                                                 gggTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTCTTTGCCGGTGCATTAGCGa                                                       >  1:396654/1‑149 (MQ=255)
                                                                                         cTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGCCGGTGCAGTAGCGAAAGATTCg                                               <  2:1052403/149‑1 (MQ=255)
                                                                                          tcctcaGGCAGGTATAGAGCCCATTCGGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGCCGGTGCAGTAGCGAAAGATTCgg                                              <  1:768914/146‑1 (MQ=18)
                                                                                          tcatcaGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGCCGGTGCAGTAGCGAAAGATTCgg                                              >  1:281595/1‑149 (MQ=255)
                                                                                            atcaGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGCCGGTGCAGTAGCGAAAGATTCGGGa                                            >  2:335286/1‑149 (MQ=255)
                                                                                               aggcaggTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGCCGGTGCAGTAGCGAAGGATTCGGAACTc                                         >  2:3265/1‑149 (MQ=255)
                                                                                                 gcaggTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGCCGGTGCCGTAGCGAAAGATTCGGGACCCAg                                       >  1:574137/1‑149 (MQ=255)
                                                                                                 gcaggTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGCCGGTGCAGTAGCGAAAGATTCGGGACTCAg                                       >  1:395864/1‑149 (MQ=255)
                                                                                                          gggCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGCCGGTGCAGTAGCGCAAGATTAGGACCTCAGCATGCTgcg                              >  2:432282/1‑147 (MQ=18)
                                                                                                           ggCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGCGTAATGACAGACGCTACCGTGCCACTGGTATTTGACGGTGCAGTCGAGAAGGATTCGGGCCTGAGGATGcgtgcg                             >  1:139422/1‑144 (MQ=18)
                                                                                                            gCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGCCGGTGCAGTAGCGAAAGATTCGGGACTCAGGATGCTGGCgg                            >  1:120355/1‑149 (MQ=255)
                                                                                                            gCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGCCGGTGCAGTAGCGAAAGATTCGGGACTCAGGATGCTGGCgg                            >  1:2329/1‑149 (MQ=255)
                                                                                                            gCCCATTGCCGGCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGCCGGTGCAGTAGCGAAAGATTCGGGACTCAGGATGCTGGCgg                            <  2:627616/149‑1 (MQ=255)
                                                                                                                aTTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGCCGGTGCAGTCGCGAAACATTCGGGAGTCAGGATGCTGGCGGtcta                        >  1:789193/1‑149 (MQ=17)
                                                                                                                 ttGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGCCGGTGCAGTAGCGAAAGATTCGGGACTCAGGATGCAGGCGGTatat                       >  2:1033606/1‑149 (MQ=255)
                                                                                                                  tGCGGTCCTGGCGGGGGTCGGCGTAGACCGCTAGGTCTCCGGCGACATCCGGAATGTCCCTTCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGCCGGTGCAGTAGCGAAAGATTCGGGACTCAGGATGCTGGCGGTATATc                      <  2:459843/149‑1 (MQ=17)
                                                                                                                       tCCGGGGGGCGTTCGGCGTATACCGCTAGGACTCCGGGGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGCCGGTGCAGTAGCGAAAGATTCGGGACTCAGGATGCTGGCGGTATATCGTCAt                 <  2:226832/149‑1 (MQ=255)
                                                                                                                              ggcgTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGCCGGTGCAGTAGCGAAAGATTCgg                                              <  2:425878/113‑1 (MQ=255)
                                                                                                                              ggcgTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGCCGGTGCAGTAGCGAAAGATTCgg                                              >  1:425878/1‑113 (MQ=255)
                                                                                                                              ggcgTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGCCGGTGCAGTAGCGAAAGATTCGGGACTCAGGATGCTGGCGGTATATCGTCATTGCCCTg          <  1:335286/149‑1 (MQ=255)
                                                                                                                               gtgTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGCCGGTGCAGTAGCGAAAGATTCGGGACTCAGGATGCTGGCGGTATATCGTCATTGCCCTGc         <  1:579686/147‑1 (MQ=255)
                                                                                                                               gcgTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGCCGGTGCAGTAGCGAAAGATTCGGGACTCAGGATGCTGGCGGTATATCGTCATTGCCCTGc         <  1:1014488/149‑1 (MQ=255)
                                                                                                                                             ccGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTg                                                                             >  1:786589/1‑67 (MQ=255)
                                                                                                                                             ccGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTg                                                                             <  2:786589/67‑1 (MQ=255)
                                                                                                                                             ccGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGCCGGTGCAGTAGCGAAAGATTCGGGACTCAGGATGCTGGCGGTATATCGTCATTGCCCTGCGTTTACt  >  1:700627/1‑142 (MQ=255)
                                                                                                                                             ccGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGCCGGTGCAGTAGCGAAAGATTCGGGACTCAGGATGCTGGCGGTATATCGTCATTGCCCTGCGTTTACt  <  2:700627/142‑1 (MQ=255)
                                                                                                                                                 |                                                                                                                                         
GGGCTCCCAGGCGCAGTGTAATCTCCCGCTGCAGGCCCCTGGTAGGGTTGCTCATTACAGTTCTCCACTATTGTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCGAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGCCGGTGCAGTAGCGAAAGATTCGGGACTCAGGATGCTGGCGGTATATCGTCATTGCCCTGCGTTTACT  >  NC_000913_3_hsa_tpiA/263953‑264235

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: