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.A78.8% 83.3 / 20.2 33coding (40/1389 nt)narUnitrate/nitrite transporter
Reads supporting (aligned to +/- strand):  ref base . (2/5);  new base A (10/16);  total (12/21)
Fisher's exact test for biased strand distribution p-value = 1.00e+00
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.18e-01
*NC_000913_3_hsa_tpiA1,544,0220CA100.0% 106.7 / NA 33L13F (TTG→TTT) narUnitrate/nitrite transporter
Reads supporting (aligned to +/- strand):  ref base C (0/0);  new base A (12/21);  total (12/21)

TAACGGTAACTGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCG‑C‑AA‑AAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTGGGTGAAGTGCTGATTGAAA  >  NC_000913_3_hsa_tpiA/1543886‑1544170
                                                                                                                                         |||                                                                                                                                                    
tAACGGTAACTGCGCTATATAGCATCCAAACACAGAAGTCAAGAAGTAGACAACTGCTTGATATCCAGAGACTTCTTCGAGCAATAGGTTTTCCTTTCTTTCCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCG‑AAAA‑AAGATAACg                                                                                                                                           <  1:97424/149‑1 (MQ=255)
      tAACTGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AA‑AAGATAACGACTAtt                                                                                                                                     >  2:100031/1‑149 (MQ=255)
          tGCGCTAAATAGCATCCATACAAAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCG‑A‑AATAAGATAACGACTAtttata                                                                                                                                 <  2:9056/149‑4 (MQ=255)
               tAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AA‑AAGATAACGACTATTTTTCTCAtt                                                                                                                            <  1:580283/149‑1 (MQ=255)
                  aTAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AA‑AAGATAACGACTAATTTTCTCATTTTg                                                                                                                         >  2:403515/1‑149 (MQ=255)
                       aTCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTAGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AA‑AAGATAACGACTATTTTTCTCATTTTGCAGTg                                                                                                                    >  1:322916/1‑149 (MQ=255)
                                caGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AA‑AAGATAACGACTATTTTTTTCATTTTGCAGTGCCATAgtgt                                                                                                           >  1:15553/1‑149 (MQ=255)
                                caGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCG‑AAAA‑AAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGt                                                                                                           <  2:446132/149‑1 (MQ=255)
                                  gAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AA‑AAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTc                                                                                                         <  1:504407/149‑1 (MQ=255)
                                    aGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AA‑AAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCt                                                                                                       <  1:13710/149‑1 (MQ=255)
                                       cAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AA‑AAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTcac                                                                                                    <  1:275885/149‑1 (MQ=255)
                                                   aaCTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCG‑AAAA‑AAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTg                                                                                        >  1:189827/1‑149 (MQ=255)
                                                     ctgacttaTATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AA‑AAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGt                                                                                      <  1:135380/149‑1 (MQ=255)
                                                     ctgactgaTATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AA‑AAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGt                                                                                      <  1:399371/149‑1 (MQ=255)
                                                           gaTATCCAGAGATTTCTTCGAGAAATATGTTTTCCTTTACTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AA‑AAGATAACGACTATTTTTCTCATTTTGCAGTGCCACAGGCTTTCTCACATGCACACATTGGTAATGaa                                                                                <  1:145787/149‑1 (MQ=255)
                                                                 cAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AA‑AAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAg                                                                          >  1:46026/1‑149 (MQ=255)
                                                                        ttcttcGAGCAATATGTTTTACTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AA‑AAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGTTATAAAGACAAAac                                                                   <  2:459168/149‑1 (MQ=255)
                                                                          cttcGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGAGTTTCTGGTTTCCAGTCGCGAA‑AA‑AAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAacac                                                                 >  1:169589/1‑149 (MQ=255)
                                                                                         tttCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AA‑AAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAAt                                                  >  2:68497/1‑149 (MQ=255)
                                                                                          ttCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AA‑AAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATa                                                 >  2:46894/1‑149 (MQ=255)
                                                                                            ccTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AA‑AAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCATCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGc                                               <  1:472831/149‑1 (MQ=255)
                                                                                               ttATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AA‑AAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAg                                            >  1:68498/1‑149 (MQ=255)
                                                                                               ttATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCG‑AAAA‑AAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAg                                            >  2:109523/1‑149 (MQ=255)
                                                                                                     tCCCAGAAGGTGGGAATTGGTGGTTTACAGGGGCGAA‑AA‑AAGATAACGACTATTTTTCTGACTTTGAAGGGAAATATTGTTCCTCACTTGCACAAAAAAAAAAAAAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGttatta                                      <  2:298254/149‑1 (MQ=255)
                                                                                                          gAAGGCCGTATTTTCTGGTTTCCAGTCGCGAA‑AA‑AAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAAtt                                 <  1:107013/149‑1 (MQ=255)
                                                                                                               cagttctttCTCGTTTCCATTAGAG‑AAAA‑AACATATCGACTATTTTTCTCACTTTGCAGTGCCATATTGTTCCTCACATGCACACATTCGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGa                            <  1:60092/143‑1 (MQ=255)
                                                                                                                  gATTTTCTGGTTTCCAGTCGCGAA‑AA‑AAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGa                         <  1:9285/149‑1 (MQ=255)
                                                                                                                     tttCTGGTTTCCAGTCGCGAA‑AA‑AAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGaaaaaaa                                                                           >  2:423092/1‑96 (MQ=255)
                                                                                                                     tttCTGGTTTCCAGTCGCGAA‑AA‑AAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGaaaaaaa                                                                           <  1:423092/96‑1 (MQ=255)
                                                                                                                       tCTGGTTTCCAGTCGCGAA‑AA‑AAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTgg                    <  1:46894/149‑1 (MQ=255)
                                                                                                                       acTGGTTTGCAGACGGG‑AAAA‑AAGAAAACGACTATTTTTCTCATTTGGAAGAACAATATTGTTCCTCACATGCACAAAAAAAAAAAAAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTgg                    <  2:189150/148‑1 (MQ=255)
                                                                                                                            tttCCAGTCGCGAA‑AA‑AAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTGGGTGaa               <  1:49876/149‑1 (MQ=255)
                                                                                                                            tttCCAGTCGCGAA‑AA‑AAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTGGGTGaa               <  1:109523/149‑1 (MQ=255)
                                                                                                                                    tcgcgaaaa‑aaGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTGGGTGAAGTGCTGa        <  2:46026/142‑1 (MQ=255)
                                                                                                                                          aaa‑aaGATAACGACTATTGTTCTCATTTTGCACTGCCATATTGTCACTCACATGCACACATTGGTAATGAAAAAAAAACAAAACACGAGGTAAGGCGTAATAGCCAGTTATTAGAATTAAGGATGAATTGGGTGAAGTGCTGATTGaaa  <  2:305748/148‑1 (MQ=255)
                                                                                                                                         |||                                                                                                                                                    
TAACGGTAACTGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCG‑C‑AA‑AAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTGGGTGAAGTGCTGATTGAAA  >  NC_000913_3_hsa_tpiA/1543886‑1544170

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: ‑