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.A85.7% 141.7 / 19.4 49coding (40/1389 nt)narUnitrate/nitrite transporter
Reads supporting (aligned to +/- strand):  ref base . (4/3);  new base A (25/17);  total (29/20)
Fisher's exact test for biased strand distribution p-value = 1.00e+00
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 7.17e-01
*NC_000913_3_hsa_tpiA1,544,0220CA98.0% 158.6 / NA 49L13F (TTG→TTT) narUnitrate/nitrite transporter
Reads supporting (aligned to +/- strand):  ref base C (0/0);  major base A (29/19);  minor base T (0/1);  total (29/20)
Fisher's exact test for biased strand distribution p-value = 4.08e-01
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.99e-01

TGAGATTAACGGTAACTGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCG‑C‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTGGGTGAAGTGCTGATTGAAAGA  >  NC_000913_3_hsa_tpiA/1543880‑1544172
                                                                                                                                               |||                                                                                                                                                     
tGAGATTAACGGTAACTGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCG‑A‑aaaaaga                                                                                                                                                 >  1:936226/1‑147 (MQ=255)
     ttAACGGTAACTGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATAACg                                                                                                                                             >  2:433034/1‑150 (MQ=255)
        aCGGTAACTGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATAACGACt                                                                                                                                          >  2:85289/1‑150 (MQ=255)
           gTAACTGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATAACGACTAtt                                                                                                                                       >  2:1002947/1‑150 (MQ=255)
              aCTGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATAACGACTAttttt                                                                                                                                    >  1:189739/1‑150 (MQ=255)
              aCTGCCCTAAATAGCATCCAGACACATATAGCAAGAAGGAGACCACTGAATGATAGCCAGAGATTTCCTCGAGCAATAGGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTCGTTTCCAGTCGCGAA‑AAAAGATAACGACTActttt                                                                                                                                    <  2:369678/150‑1 (MQ=255)
               cTGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATAACGACTATTTTtc                                                                                                                                   <  1:1002947/150‑1 (MQ=255)
                         aaGCATCCAAACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCa                                                                                                                         <  1:292755/149‑1 (MQ=255)
                          aGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATaa                                                                                                                                               <  1:697324/127‑1 (MQ=255)
                          aGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCG‑AAAAAAGATaa                                                                                                                                               >  2:697324/1‑127 (MQ=255)
                              tCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCG‑AAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGcc                                                                                                                    >  1:692704/1‑150 (MQ=255)
                                     acaGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTACATCATTTTCCCATAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATAACGACTATTTTTCTCATTTCGCATTGCCATATTGt                                                                                                             >  2:934762/1‑150 (MQ=255)
                                      aaGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTTGTTTCCAGTCGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGtt                                                                                                            <  2:389413/149‑1 (MQ=255)
                                        aaaGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTcc                                                                                                          <  2:394773/149‑1 (MQ=255)
                                           ggCAAGAAGTAGACCACTGGCTGATATCCAGTGATTTCTTCGAGCAATATGTTTTCCTTTATTGTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATAACGACTATTTGTCTCATTTTGCAGTGCCATATTGTTCCTca                                                                                                       <  1:877182/150‑1 (MQ=255)
                                           ggCAAGAAGTAGACAACTGACGGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTATCGCGTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTca                                                                                                       <  1:239222/150‑1 (MQ=255)
                                                   gTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATGTGCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGcaca                                                                                               >  1:715470/1‑150 (MQ=255)
                                                       aCAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCa                                                                                                                         >  2:417823/1‑120 (MQ=255)
                                                       aCAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCG‑AAAAAAGATAACGACTATTTTTCTCATTTTGCa                                                                                                                         <  1:417823/120‑1 (MQ=255)
                                                       aCAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCG‑AAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACAtt                                                                                           >  1:777700/1‑150 (MQ=255)
                                                        cAACTGACTGATATCCAGCGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTg                                                                                          <  1:485501/150‑1 (MQ=255)
                                                        aaaCTGACTGATATCCAGATATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTTGTTTCCAGTTGCGAT‑AAAACATAACGACTATTTTTCTCATTTTGCATTGCCATATTGTGCCTCACATGCACACAttc                                                                                          <  2:464930/149‑2 (MQ=255)
                                                        aaaCTGAATGATATCCACAGATTTCTTCGAGCAATATGTTTTCCGTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTg                                                                                          <  2:35788/149‑1 (MQ=255)
                                                         aaCTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTgg                                                                                         >  1:435532/1‑150 (MQ=255)
                                                           ctgactgaTATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTa                                                                                       >  2:830521/1‑150 (MQ=255)
                                                              actgaTATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATg                                                                                    >  1:13413/1‑150 (MQ=255)
                                                              actgaTATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATg                                                                                    >  2:1018995/1‑150 (MQ=255)
                                                                    atCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGaaaaaa                                                                              >  1:71782/1‑150 (MQ=255)
                                                                    atCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCG‑AAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGaaaaaa                                                                              <  1:795204/150‑1 (MQ=255)
                                                                     tCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGaaaaaaa                                                                             <  1:1018995/150‑1 (MQ=255)
                                                                        agagATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAACAGaa                                                                          >  2:639604/1‑149 (MQ=255)
                                                                        agagATTTCTTCGAGCAATATGTTTTCCTAACTTAAAGAGGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGAc                                                                          >  1:507261/1‑150 (MQ=255)
                                                                        agaaATTTCTTTGATCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATCCACACATTGGTAATGAAAAAAAGAc                                                                          >  2:436939/1‑150 (MQ=255)
                                                                         gagcTTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATAACGACTCTTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACa                                                                         <  1:794059/150‑1 (MQ=255)
                                                                                 ttcGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATAACGACTATTTTTCTCTTTTTTTAGTACCATATTGTTCCTCACATGCACCCATTGGTAATTAGAAAAAGAAAAAacacag                                                                 >  2:858938/1‑148 (MQ=255)
                                                                                       cAATATGTTTTCCTTTATTTATCCAGAAGGCCGGATGTTCTGGTTTCCATGCGCGAA‑AAAAGATAACGACGATTTTTCTCATTTTTCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAg                                                           <  2:306208/150‑1 (MQ=255)
                                                                                                ttCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATAACGACTATTTTTTTTTTTTTGCATTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGCGGTAAGGCGCATTac                                                  >  2:699834/1‑149 (MQ=255)
                                                                                                 tCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGc                                                 >  2:674379/1‑150 (MQ=255)
                                                                                                   cTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCa                                               <  2:189739/150‑1 (MQ=255)
                                                                                                   cTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCG‑AAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCa                                               <  1:433034/150‑1 (MQ=255)
                                                                                                    tttATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCCTATCGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAg                                              >  1:239893/1‑150 (MQ=255)
                                                                                                       aTTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGtta                                           <  1:85289/150‑1 (MQ=255)
                                                                                                         tttCACAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATTCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGtactt                                         >  2:944878/1‑146 (MQ=255)
                                                                                                          ttCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATAACGACTATTTTTCGCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGTGCAATATCCAGttatta                                        <  2:891647/150‑1 (MQ=255)
                                                                                                              cAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATAACGCCTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACAATGGTAATGAAAAGAAGACAAAAAACGAGGCAAGGCGCACAAGACAGTTATTAGaaa                                    >  1:811625/1‑149 (MQ=255)
                                                                                                                   ggCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAgg                               >  1:27041/1‑150 (MQ=255)
                                                                                                                     ccGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCTCACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGAt                             >  1:757271/1‑150 (MQ=255)
                                                                                                                            ttCTGGTTTCCAGTCGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTgg                      >  1:409234/1‑150 (MQ=255)
                                                                                                                               tGGTTTCCAGTCGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACGTGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTGGGTg                   >  1:604697/1‑150 (MQ=255)
                                                                                                                                              gaaaaaaGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATTCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTGGGTGAAGTGCTGATTGaa     <  1:436939/147‑1 (MQ=255)
                                                                                                                                                 aaaaGATAAACACTATTTTTCTCATTTTACAGTGCCATATTCTTCCTAACATGCACACATTGGTAATGAAAAAACGACATAACACGAAGTAAGGCGCAATAGCAAGTTATTATAAGTAATGATGAATGGGGTGACGTGGTGATAGTAAGa  >  2:238768/1‑150 (MQ=255)
                                                                                                                                               |||                                                                                                                                                     
TGAGATTAACGGTAACTGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCG‑C‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTGGGTGAAGTGCTGATTGAAAGA  >  NC_000913_3_hsa_tpiA/1543880‑1544172

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: ‑