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.A81.4% 124.6 / 22.1 43coding (40/1389 nt)narUnitrate/nitrite transporter
Reads supporting (aligned to +/- strand):  ref base . (4/4);  new base A (18/17);  total (22/21)
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
*NC_000913_3_hsa_tpiA1,544,0220CA100.0% 144.7 / NA 43L13F (TTG→TTT) narUnitrate/nitrite transporter
Reads supporting (aligned to +/- strand):  ref base C (0/0);  new base A (22/21);  total (22/21)

TTGAGATTAACGGTAACTGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCG‑C‑A‑AAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTGGGTGAAGTGCTGATTGA  >  NC_000913_3_hsa_tpiA/1543879‑1544168
                                                                                                                                                |||                                                                                                                                                  
ttGATATCAACGGTAAGTGCGCGAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTCCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCG‑A‑a‑aaaa                                                                                                                                               <  1:402970/149‑2 (MQ=255)
ttGAGATTAACGGTAACTGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTACCAGAAGGCCGGATTTTCTGGTTTCCGGTCGCG‑A‑a‑aaaa                                                                                                                                               >  2:849410/1‑148 (MQ=255)
     aTTAACGGTAACTGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑A‑AAAGATaa                                                                                                                                           <  2:25806/149‑1 (MQ=255)
     aTTAACGGTAACTGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTACTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑A‑AAAGATaa                                                                                                                                           <  1:830574/149‑1 (MQ=255)
      ttAACGGTAACTGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑A‑AAAGATAAc                                                                                                                                          >  1:568785/1‑149 (MQ=255)
         aCGGTAACTGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCG‑A‑a‑aaaagat                                                                                                                                            >  2:681843/1‑139 (MQ=255)
         aCGGTAACTGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCG‑A‑a‑aaaagat                                                                                                                                            <  1:681843/143‑5 (MQ=255)
                    gcTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑A‑AAAGATAACGACTATTTTTCTCa                                                                                                                            >  1:702013/1‑149 (MQ=255)
                          tAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCG‑AAA‑AAAGATAACGACTATTTTTCTCATTTTGc                                                                                                                      >  2:807187/1‑149 (MQ=255)
                                  aGACACAGAAGGCAAGAAGTAGACAACTCAAAACTTACCGGTGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑A‑AAAGATAACGACTATTTTTCTCATTTTGCAGAGCCat                                                                                                              >  2:495618/1‑149 (MQ=255)
                                     cacaGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCG‑AAA‑AAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATAtt                                                                                                           <  1:576021/149‑1 (MQ=255)
                                       caGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑A‑AAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGt                                                                                                         >  1:441976/1‑149 (MQ=255)
                                        aGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTAAAAAAAAAAAA‑A‑AAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGtt                                                                                                        <  2:186381/149‑1 (MQ=255)
                                         gAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑A‑AAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTc                                                                                                       <  2:940352/149‑1 (MQ=255)
                                                 gaagTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑A‑AAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATg                                                                                               <  2:33558/149‑1 (MQ=255)
                                                             tgacagaTATCGAGAGATTTCTTCGAGCAATATGTTTTCCTTTATGTTCTCAGAAGGCCGGATTTTCTGGTTAAAAAAAGAAAA‑A‑AAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTa                                                                                   <  2:234894/149‑1 (MQ=255)
                                                               actgaTATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑A‑AAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATAtt                                                                                                           <  2:674622/123‑1 (MQ=255)
                                                               actgaTATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑A‑AAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATAtt                                                                                                           >  1:674622/1‑123 (MQ=255)
                                                                     atCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑A‑AAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGaaaaa                                                                           >  1:289579/1‑149 (MQ=255)
                                                                       ccAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCG‑A‑AGAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCGTGACATGTACACATGGGTAATGaaaaaaa                                                                         >  2:300611/1‑149 (MQ=255)
                                                                         agagATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑A‑AAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATg                                                                                <  1:877961/140‑1 (MQ=255)
                                                                         agagATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑A‑AAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATg                                                                                >  2:877961/1‑140 (MQ=255)
                                                                         agagATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑A‑AAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGa                                                                       >  1:887172/1‑149 (MQ=255)
                                                                         agagATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑A‑AAAGATAACGACTATTTTTCTCATTTTGCAGTACCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGa                                                                       >  1:26817/1‑149 (MQ=255)
                                                                              tttCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGAGAA‑A‑AAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACaaaa                                                                  >  2:170948/1‑149 (MQ=255)
                                                                                          atatGTTTTCCGTAACTTCACCAGAAGGCACAATTTTCTGGTTTCCAGTGGCGAA‑A‑AAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGAACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAgg                                                      <  2:312215/149‑1 (MQ=255)
                                                                                               ttttCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑A‑AAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCaa                                                 >  2:619010/1‑149 (MQ=255)
                                                                                                     tttATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑A‑AAAGATAACGACTATTTTTCTCATTTTGCAGTGCCata                                                                                                             <  2:522545/83‑1 (MQ=255)
                                                                                                     tttATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑A‑AAAGATAACGACTATTTTTCTCATTTTGCAGTGCCata                                                                                                             >  1:522545/1‑83 (MQ=255)
                                                                                                       tATTTTCCCAGAAGGCCGGATTTTCAGGTTTCCAGTCGCGAA‑A‑AAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGt                                         >  1:956575/1‑149 (MQ=255)
                                                                                                        aTTCTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑A‑AAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGtt                                        <  1:831589/149‑1 (MQ=255)
                                                                                                               cggAAGGCCTGATTTTCTGGCTTCCAGTCGCGAA‑A‑AAAGATAACGACTATTTTTCTCATTTTGCATTGCGATATTGTTCATCACATGCACACATTGGTCATGAAAAAAAGACAAAACACGAGTTAAGGCGCAATACCCAGTTATTAGaa                                 <  1:864757/147‑1 (MQ=255)
                                                                                                                    ggCCGGATTTTCTGGTTTCCAGTCGCGAA‑A‑AAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAg                            <  1:42856/149‑1 (MQ=255)
                                                                                                                      ccGGATTTTCTGGTTTCCAGTCGCGAA‑A‑AAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGa                          >  1:500134/1‑149 (MQ=255)
                                                                                                                       cGGATTTTCTGGTTTCCAGTCGCGAA‑A‑AAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAACAGACAAAACACAAGGTAAGGCGCAATAGCCGGTTATTAGAGTTAAGGAt                         >  2:986849/1‑149 (MQ=255)
                                                                                                                       cGGATTTTCTGGTTTCCAGTCGCGAA‑A‑AAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGAt                         >  1:985340/1‑149 (MQ=255)
                                                                                                                        ggATTTTCTGGTTTCCAGTCGCGAA‑A‑AAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATg                        >  1:664902/1‑149 (MQ=255)
                                                                                                                              tCTGGTTTCCAGTCGCGAA‑A‑AAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTgg                  <  2:441976/149‑1 (MQ=255)
                                                                                                                              tCTGGTTTCCAGTCGCGAA‑A‑AAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTgg                  <  1:619010/149‑1 (MQ=255)
                                                                                                                               cTGGTTTCCAGTCGCGAA‑A‑AAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTggg                 >  2:562544/1‑149 (MQ=255)
                                                                                                                                     tCCAGTCGCGAA‑A‑AAAGATAACGACTAGTTTTCTCATTTCGCAGAGCCATAATGCTCCTCACATGCACACATTGGTAAAGAAAAAAAGACAAAACACGATGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTGGGTGAAGt           <  2:307093/149‑1 (MQ=255)
                                                                                                                                       cAGTCGCGAA‑A‑AAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTGGGTGAAGTGc         <  1:615987/149‑1 (MQ=255)
                                                                                                                                        aGTCGCG‑AAA‑AAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTGGGTGAAGTGCt        <  2:956575/149‑1 (MQ=255)
                                                                                                                                             gcgaaa‑aaaGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGTTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAAATGGGTGAAGTGCTGAtt    >  1:391484/6‑149 (MQ=255)
                                                                                                                                             gcaaaa‑aaaGATAACGGCTATTTTTCGCATTTTGCAGTGCAATATTGTTCCGTATGTGCACAGATTGGTAATGAAAAAAAGACAAAACACGAGGTACGGCGTAAGGGGCAGTTATTAGAATTAAGGATGAATTGGGTGAAGTGCTGAtt    <  1:474060/144‑1 (MQ=255)
                                                                                                                                               gaaa‑aaaGATAACGACTATTTTTTTTTTTTTTCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGTCGCAATAGCCAGTTATTAGAATTAAGGATGAATTTGGTGAAGTGCTGAttta  >  2:298998/4‑147 (MQ=255)
                                                                                                                                                |||                                                                                                                                                  
TTGAGATTAACGGTAACTGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCG‑C‑A‑AAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTGGGTGAAGTGCTGATTGA  >  NC_000913_3_hsa_tpiA/1543879‑1544168

Alignment Legend
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 22 ≤ ATCG/ATCG < 32 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG
Unaligned base: atcg    Masked matching base: atcg    Alignment gap: ‑    Deleted base: ‑