Predicted mutation
evidence seq id position mutation annotation gene description
RA NC_000913_3_hsa_tpiA 1,544,022 C→A L13F (TTG→TTT narU ← nitrate/nitrite transporter

Read alignment evidence...
  seq id position ref new freq score (cons/poly) reads annotation genes product
*NC_000913_3_hsa_tpiA1,544,0220CA98.3% 189.1 / NA 58L13F (TTG→TTTnarUnitrate/nitrite transporter
Reads supporting (aligned to +/- strand):  ref base C (0/0);  major base A (26/31);  minor base G (1/0);  total (27/31)
Fisher's exact test for biased strand distribution p-value = 4.66e-01
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 1.00e+00

ATTAACGGTAACTGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGCAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTGGGTGAAGTGCT  >  NC_000913_3_hsa_tpiA/1543884‑1544162
                                                                                                                                              |                                                                                                                                                
aTTAACGGTAACTGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGCAGGCCGGATTTTCTGGTTTCCAGTCGCGAaaaaagctaa                                                                                                                                     >  1:533026/1‑143 (MQ=255)
aTTAACGGTAACTGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAAAAAAGATaa                                                                                                                                     >  1:957586/1‑149 (MQ=255)
aTTAACGGTAACTGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGGAGACAACTGAGTGATATCCAGAGATTTCTTCGAGCCATATGTTTTCCTTTATTTTCCCGGAAGCCCGGTTTTTCTGGTTTCCAGTCGCGGAAACAGATaa                                                                                                                                     >  1:162612/1‑149 (MQ=255)
 ttAACGGTAACTGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGTTTTCCAGTCGCGAAAAAAGATAAc                                                                                                                                    >  2:137409/1‑149 (MQ=255)
 ttAACGGTAACTGCGCTAAATAGCATCCAGACAAAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAAAAAAGATAAc                                                                                                                                    <  2:4151/149‑1 (MQ=255)
   aaCGGTAACTGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAAAAAAGATAACGa                                                                                                                                  >  1:566319/1‑149 (MQ=255)
       gTAACTGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAAAAAAGATAACGACTAt                                                                                                                              >  1:819591/1‑149 (MQ=255)
            tGCGCTAAATAGCATCCAGACACCAAAGGCAAGAAGTAGACAACTGACTAATACCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCTGATTTTCTGGTTTCCAGTCGCGAAAAAAGATAACGACTATTTTtc                                                                                                                         <  1:355556/149‑1 (MQ=255)
            tGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAAAAAAGATAACGACTATTTTtc                                                                                                                         <  2:819591/149‑1 (MQ=255)
              cgcTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAAAAAAGATAACGACTATTTTtctc                                                                                                                       <  1:148119/149‑1 (MQ=255)
                 tAAATAGCATCCAGGAACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAAAAAAGATAACGACTATTTTTCTCAtt                                                                                                                    <  2:284227/149‑1 (MQ=255)
                      aGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAAAAAAGATAACGACTATTTTTCTCATTTTGCa                                                                                                               <  1:790802/149‑1 (MQ=255)
                                  caGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGt                                                                                                   >  1:860262/1‑149 (MQ=255)
                                     aaGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGAATTTTCTGGTTTCCATTCGCGAAAATAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTcc                                                                                                >  2:915746/1‑149 (MQ=255)
                                        gCAAGAAGTAGACAACTTACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTca                                                                                             <  1:555911/149‑1 (MQ=255)
                                          aagaagTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTcaca                                                                                           <  1:425432/149‑1 (MQ=255)
                                               gTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGTTTTTCTGGTTTCCAGTCGCGAAAAAAGATAACGACTATTTTTCTCATTTTTCAGTACCATATTGTTCCTCACATTcac                                                                                      >  1:480234/1‑149 (MQ=255)
                                                tAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGcaca                                                                                     >  2:29557/1‑149 (MQ=255)
                                                     aaCTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTg                                                                                >  2:829129/1‑149 (MQ=255)
                                                     aaCTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCAGGTTTCCAGTCGCGAAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTg                                                                                <  1:956975/149‑1 (MQ=255)
                                                             gaTATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGTTTTCCAGTCGCGAAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGaa                                                                        <  1:137409/149‑1 (MQ=255)
                                                                 tCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTaa                                                                            <  2:3855/141‑1 (MQ=255)
                                                                 tCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTaa                                                                            >  1:3855/1‑141 (MQ=255)
                                                                 tCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGaaaaaa                                                                    >  2:1021680/1‑149 (MQ=255)
                                                                    agagTTTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGa                                                                 <  2:957586/149‑1 (MQ=255)
                                                                      agaTTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGATTAAATGCAGGAAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACa                                                               <  1:763086/149‑1 (MQ=255)
                                                                       aaTTACTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCAGGGTTTCTGGTTTCCAGTCGCGAAAAAAGATAACGACTATTTGTCTCATGTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACaa                                                              >  2:789338/2‑149 (MQ=255)
                                                                        aTTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCCCATGGGCACAAGGGTAGTTGAAAGAAAACaaa                                                             >  2:430279/1‑149 (MQ=255)
                                                                              tcGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGa                                                       <  1:953678/149‑1 (MQ=255)
                                                                              tcGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGa                                                       <  1:29557/149‑1 (MQ=255)
                                                                                          ttttCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCaa                                           >  1:17149/1‑149 (MQ=255)
                                                                                          ttttCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCaa                                           >  2:144580/1‑149 (MQ=255)
                                                                                           tttCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAAt                                          >  1:633307/1‑149 (MQ=255)
                                                                                           tttCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAATCGCAAt                                          >  2:343892/1‑149 (MQ=255)
                                                                                              ccTTTCTTCTCCCAGACGGCTGGATTTTCTGGTTTCCACTCGCCAAATAAGATAACGAATCTTTTTCTCATGTTGCAGTGCCATTTTGTTCCCCACTTGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGc                                       <  1:430279/149‑1 (MQ=255)
                                                                                              ccTTTATTGTCCCAGGAGGCCGGATTTTCTGGTTTCCGGTCGCGAAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGc                                       <  2:186953/149‑1 (MQ=255)
                                                                                               ctttctttTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGcc                                      <  2:930573/149‑1 (MQ=255)
                                                                                                tttATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTc                                                                                                 <  2:468879/89‑1 (MQ=255)
                                                                                                tttATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTc                                                                                                 >  1:468879/1‑89 (MQ=255)
                                                                                                tttATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATg                                                                                         <  1:905852/97‑1 (MQ=255)
                                                                                                tttATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATg                                                                                         >  2:905852/1‑97 (MQ=255)
                                                                                                 cgagtatCCCAGAGGGCCGGATCTACTAGTTTACAGTCTCGGAAAAAGATAAGGACCATTTTTCACATTTTGCAGTGCCATATTGTTCCTCACATGCTAACATTGGAAATGAAAAAAAGACAAGACACGAGGTAAGGCGCAATAGCCAg                                    <  2:994459/143‑1 (MQ=255)
                                                                                                         ccAGAAGGGCGGATTTTCTGGTTTCCAGTCGCGAAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGa                            <  1:437501/149‑1 (MQ=255)
                                                                                                              aGGCAGGAGTTTGTGGTTGCCAGTCTGGAAAAAAGATAACGAATATTTTTCTCATTTTGCAGTGCCATATTGTGCCTCAGATGCACACATTGGTAATGAAAAAAAGACAAAAGACGAGCTACGGTGCAATAGCCAGTTATTAGAATTaa                       <  2:178432/149‑1 (MQ=255)
                                                                                                               ggCCGGATTTTCTGGTTTCCAGTCGCGAAAAAAGATAATCACTATTTTTCTCATTTTGCAGTGCCTTATTGCGCCGCACATCCCGGATTTTGTAATTAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAg                      <  1:1021680/149‑1 (MQ=255)
                                                                                                                 ccGGATTTTCTGGTTTCCAGTCGCGAAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAACAAGGAGAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGa                    >  1:808662/1‑149 (MQ=255)
                                                                                                                 ccGGATTTTCTGGTTTCCAGTCGCGAAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGa                    >  1:785584/1‑149 (MQ=255)
                                                                                                                 acGGAGTTTCTGGTTTCCAGTCGCGAAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACCTTGGTAATGAAAAAAAGACAAAACACGACGTAAGGCACAATAGCCAATTATTAGAATTAAggc                    >  2:958120/2‑148 (MQ=255)
                                                                                                                   ggATTTTCTGGTTTCCAGTCGCGAAAAAAAAATCCCCCAATCGTTCGGATGTTGCAGGACCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGACAGTTATTAGAATTAGGGATg                  <  2:480234/149‑1 (MQ=255)
                                                                                                                       tttCTGGTTTCCAGTCGAGAAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAAtt              <  1:781823/149‑1 (MQ=255)
                                                                                                                         tCTGGTTTCCAGTCGCGAAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTgg            <  1:829129/149‑1 (MQ=255)
                                                                                                                          cTGGGTTCCAGTCGCGAAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTggg           <  2:860262/149‑1 (MQ=255)
                                                                                                                           tGGTTTCCAGTCGCGAAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTGGGt          >  2:579804/1‑149 (MQ=255)
                                                                                                                               ttCCAGTCGCGAAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTGACATGAAGGATGAATTGGGTGaat      >  2:396046/1‑148 (MQ=255)
                                                                                                                                 ccAGTCGCGAAAAAAGATAACGACCATTTTTCTCATTTTGCAGTGCCATATTGTCCCCCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTGGGTGAAGTg    <  1:166493/149‑1 (MQ=255)
                                                                                                                                  cAGTCGCGAAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCCTCCTGCTCACCACATGCCCACATTGGTAATGCAACAAACACAAAACACCAAGTAAGGCGCAATAGCCAGATATTAGAATTAAGGGTGAATTGGGTGAAGtca   >  2:870004/1‑147 (MQ=255)
                                                                                                                                   aGTCGCGAAAAAAGATACCGATTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTGGGTGAAGTGCt  <  1:652091/149‑1 (MQ=255)
                                                                                                                                   aGTCGCGAAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTTGGTGAAGTGCt  <  1:653284/149‑1 (MQ=255)
                                                                                                                                              |                                                                                                                                                
ATTAACGGTAACTGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGCAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTGGGTGAAGTGCT  >  NC_000913_3_hsa_tpiA/1543884‑1544162

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: