Predicted mutation
evidence seq id position mutation annotation gene description
RA NC_000913_3_hsa_tpiA 1,544,022 1 bp→AA coding (39/1389 nt) narU ← nitrate/nitrite transporter

Read alignment evidence...
  seq id position ref new freq score (cons/poly) reads annotation genes product
*NC_000913_3_hsa_tpiA1,544,0211.A86.1% 129.4 / 16.6 43coding (40/1389 nt)narUnitrate/nitrite transporter
Reads supporting (aligned to +/- strand):  ref base . (3/3);  new base A (15/22);  total (18/25)
Fisher's exact test for biased strand distribution p-value = 6.83e-01
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 1.00e+00
*NC_000913_3_hsa_tpiA1,544,0220CA100.0% 148.1 / NA 43L13F (TTG→TTT) narUnitrate/nitrite transporter
Reads supporting (aligned to +/- strand):  ref base C (0/0);  new base A (18/25);  total (18/25)

TTGAGATTAACGGTAACTGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCG‑C‑AAAA‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTGGGTGAAGTGCTGATTGAAAG  >  NC_000913_3_hsa_tpiA/1543879‑1544171
                                                                                                                                                |||                                                                                                                                                     
ttGAGATTAACGGTAACTGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCG‑A‑aaaaag                                                                                                                                                  <  3:326838/150‑3 (MQ=255)
     aTTAACGGTAACTGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAA‑GATAAc                                                                                                                                             <  2:457336/150‑1 (MQ=255)
     aTTAACGGTAACTGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAA‑GATAAc                                                                                                                                             <  2:280780/150‑1 (MQ=255)
     aTTAACGGTAACTGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAA‑GATAAc                                                                                                                                             >  3:345040/1‑150 (MQ=255)
           ggTAACTGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAA‑GATAACGACTAt                                                                                                                                       >  1:468710/1‑150 (MQ=255)
            gTAACTGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCG‑AAAAAA‑GATAACGACTAtt                                                                                                                                      >  1:26059/1‑150 (MQ=255)
                cTGAGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGAAAACTGACTGATATCCAGAGATTTCTTCGAGAAATATGTTTTGCTTTATTTTCCAAGAAGGCCTGTTTTTCAAGTTTCCAATCACGAA‑AAAA‑GATAACGACTATTTTtc                                                                                                                                  <  2:193206/150‑1 (MQ=255)
                 tGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAA‑GATAACGACTATTTTtct                                                                                                                                 >  2:108499/1‑150 (MQ=255)
                          tAGCATCCAGAGACAGAGGGCAAGAAGTGGAAAAGTGATTGATATCCAGAGATTTCTTCGAGAAATATGTTTTCCTTTATTTGCCCTGAACGCCGGTTTTTCTGGTTTCCAGTTGCGAA‑AAAA‑GATAACGACTATTGTTCTCATTTTGCa                                                                                                                        <  2:477836/150‑1 (MQ=255)
                             cATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAA‑GATAACGACTATTTTTCTCATTTTGCAGTg                                                                                                                     <  4:43465/150‑1 (MQ=255)
                               tCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAA‑GATAACGACTATTTTTCTCATTTTGCAGTGcc                                                                                                                   <  3:296954/150‑1 (MQ=255)
                                  aGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCG‑A‑AAAACGATAACGACTATTTTTCTCATTTTGCAGTGCCata                                                                                                                >  2:132806/1‑150 (MQ=255)
                                    acacAGAAGGCAAGAAGTAGACAACGTACTGATAGCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAA‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATAtt                                                                                                              >  4:79624/1‑150 (MQ=255)
                                     cacaGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAA‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTg                                                                                                             <  1:426149/150‑1 (MQ=255)
                                      acaGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAA‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGt                                                                                                            <  4:106882/150‑1 (MQ=255)
                                        aGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAA‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTc                                                                                                          >  1:471960/1‑150 (MQ=255)
                                         gAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTGCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAA‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTcc                                                                                                         <  1:448467/150‑1 (MQ=255)
                                          aaGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAA‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCt                                                                                                        <  3:294963/150‑1 (MQ=255)
                                                agaagTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCG‑AAAAAA‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATg                                                                                                  <  2:329412/150‑1 (MQ=255)
                                                     tAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAA‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGcacac                                                                                             >  1:216914/1‑150 (MQ=255)
                                                         cAACTGACTGTTATCCAGAGATTTCTTCGAGCAATTTGTTTGCCTTTATTTGCCCAGTAGGCCGGATTTTCTGGTTTACAGACGAGAA‑AAAA‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTg                                                                                         <  2:98210/150‑1 (MQ=255)
                                                         cAACTGACTGATATCAGTACACTTCTTCGAGCAATCTGATTTCTGTTATTTTCCCAGTAGTCCGGTTTTTCTGGTTTCCAGTCGCGAA‑AAAA‑GATAACGTCTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTg                                                                                         <  3:311802/150‑1 (MQ=255)
                                                              gactgaTATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAA‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAAt                                                                                    >  4:37124/1‑150 (MQ=255)
                                                               actgaTATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAA‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATg                                                                                   >  1:17612/1‑150 (MQ=255)
                                                                     atCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTACAAAAAAGAA‑AAAA‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAAAGaaaaaa                                                                             <  2:565130/150‑1 (MQ=255)
                                                                      tCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAA‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGaaaaaaa                                                                            <  2:276642/150‑1 (MQ=255)
                                                                      tCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAA‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGaaaaaaa                                                                            <  3:109325/150‑1 (MQ=255)
                                                                      tCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAA‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGaaaaaaa                                                                            <  3:48894/150‑1 (MQ=255)
                                                                        cAGAGATTTCTTCGAGCAATATGTTTTCCTTTATATTCCCAGAAAACCGTATTTTCTGGTTTCCAGTCGCGAA‑AAAA‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGa                                                                          >  3:173646/1‑150 (MQ=255)
                                                                         agagATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAA‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGAc                                                                         >  2:104101/1‑150 (MQ=255)
                                                                                   tcGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAA‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAg                                                               <  2:388606/150‑1 (MQ=255)
                                                                                   tcGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAA‑GATAACAACTATTTTTCTCATTTTGCAGTGCCATATTGTTCATCACATGCACACATTGGTAAATAAAAAAAGACAAAACACGaa                                                               >  2:4428/1‑149 (MQ=255)
                                                                                    tgAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCGGGATTTTCTGGTTTCTAGTCGCGAA‑AAAA‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATGTTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAgg                                                              <  2:550613/149‑1 (MQ=255)
                                                                                       gCAATATGTTTTCCTTTATTTTATCCGACTCCCGCATTTTCTTGTTTCCAGTCGCG‑AAAAAA‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACATATTGGTAATGAAAAAAAGACAAAACACGAGGTaa                                                           >  4:297572/1‑150 (MQ=255)
                                                                                                 ttCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAA‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAg                                                 >  2:480333/1‑150 (MQ=255)
                                                                                                    cTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAA‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCa                                              <  2:283381/150‑1 (MQ=255)
                                                                                                               cAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAA‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAAt                                   >  2:287366/1‑150 (MQ=255)
                                                                                                                aGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAA‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAAtt                                  >  1:181555/1‑150 (MQ=255)
                                                                                                                  aaGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAA‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTaa                                <  1:453864/150‑1 (MQ=255)
                                                                                                                             ttCTGGTTTCCAGTCGCG‑AAAAAA‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTgg                     <  1:108499/150‑1 (MQ=255)
                                                                                                                              tCTGGTTTCCAGTCGCGAA‑AAAA‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTggg                    >  4:203738/1‑150 (MQ=255)
                                                                                                                               cTGGTTTCCAGTCGCGAA‑AAAA‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTGGGt                   <  1:384365/150‑1 (MQ=255)
                                                                                                                                tGGTTTCCAGTCGCGAA‑AAAA‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTGGGTg                  <  2:17612/150‑1 (MQ=255)
                                                                                                                                             gcgaaaaaa‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACAAATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTGGGTGAAGTGCTGATTg      <  2:468710/145‑1 (MQ=255)
                                                                                                                                               gaaaaaa‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTGGGTGAAGTGCTGATTGaa    >  1:448060/4‑150 (MQ=255)
                                                                                                                                               gaaaaaa‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTGGGTGAAGTGCTGATTGaa    <  3:297572/147‑1 (MQ=255)
                                                                                                                                                aaaaaa‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTGGGTGAAGTGCTGATTGaaa   <  1:47509/148‑1 (MQ=255)
                                                                                                                                                aaaaaa‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTGGGTGAAGTGCTGATTGaaa   <  3:79624/148‑1 (MQ=255)
                                                                                                                                                aaaaaa‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTGGGTGAAGTGCTGATTGaaa   <  1:104101/148‑1 (MQ=255)
                                                                                                                                                 aaaaa‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTGGGTGAAGTGCTGATTGAAAg  >  3:314207/2‑150 (MQ=255)
                                                                                                                                                |||                                                                                                                                                     
TTGAGATTAACGGTAACTGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCG‑C‑AAAA‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTGGGTGAAGTGCTGATTGAAAG  >  NC_000913_3_hsa_tpiA/1543879‑1544171

Alignment Legend
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 22 ≤ ATCG/ATCG < 37 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG
Unaligned base: atcg    Masked matching base: atcg    Alignment gap: ‑    Deleted base: ‑