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.A85.1% 138.4 / 17.8 47coding (40/1389 nt)narUnitrate/nitrite transporter
Reads supporting (aligned to +/- strand):  ref base . (6/1);  new base A (14/26);  total (20/27)
Fisher's exact test for biased strand distribution p-value = 3.20e-02
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 1.00e+00
*NC_000913_3_hsa_tpiA1,544,0220CA100.0% 158.2 / NA 47L13F (TTG→TTT) narUnitrate/nitrite transporter
Reads supporting (aligned to +/- strand):  ref base C (0/0);  new base A (20/27);  total (20/27)

ACGGTAACTGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCG‑C‑AAA‑A‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTGGGTGAAGTGCTGAT  >  NC_000913_3_hsa_tpiA/1543888‑1544165
                                                                                                                                       |||                                                                                                                                                
aCGGTAACTGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAA‑A‑GATAACGAc                                                                                                                                    >  1:829970/1‑149 (MQ=255)
        tGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAA‑A‑GATAACGACTATTTTtc                                                                                                                            <  1:927118/149‑1 (MQ=255)
         gcgcTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAA‑A‑GATAACGACTATTTTtct                                                                                                                           >  1:448674/1‑149 (MQ=255)
          cgcTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAA‑A‑GATAACGACTATTTTtctc                                                                                                                          >  1:544880/1‑149 (MQ=255)
             tAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAA‑A‑GATaa                                                                                                                                        >  1:39110/1‑132 (MQ=255)
             tAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAA‑A‑GATAACGACTATTTTTCTCAtt                                                                                                                       <  1:752719/149‑1 (MQ=255)
             tAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTAGCGAA‑AAA‑A‑GATaa                                                                                                                                        <  2:39110/132‑1 (MQ=255)
               aaTAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCG‑A‑AAA‑ACGATAACGACTATTTTTCTCAtttt                                                                                                                     >  1:564182/1‑149 (MQ=255)
                aTAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAA‑A‑GATAACGACTATTTTTCTCATTTTg                                                                                                                    <  2:53681/149‑1 (MQ=255)
                 tAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAA‑A‑GATAACGACTATTTTTCTCATTTTGc                                                                                                                   <  1:362888/149‑1 (MQ=255)
                  aGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAA‑A‑GATAACGACTATTTTTCTCATTTTGCa                                                                                                                  <  1:900286/149‑1 (MQ=255)
                     aTCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAA‑A‑GATAACGACTATTTTTCTCATTTTGCAGTg                                                                                                               >  1:594928/1‑149 (MQ=255)
                      tCCAGACACAGAAGGCAAGAAGTAGACAGCTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCTCAGAAGGCCGGATTTTCTGGTTTCCAGTGGCGAA‑AAA‑A‑GATAACGACTATTTTTCTCAtttttttgtgc                                                                                                              >  2:824312/1‑142 (MQ=255)
                         aGACACAGAAGGCAAGAAGTAGACAACTGACTGAGATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGACCGGATTTTCTGGTTTCCAGTCGCGAA‑AAA‑A‑GATAACGACTATTTTTCTCATTTTGCAGTGCCat                                                                                                           >  2:613740/1‑149 (MQ=255)
                               aGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAA‑A‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGtt                                                                                                     <  1:890989/149‑1 (MQ=255)
                                 gaGGCAAGAAGGAGATAACTTTGTGATATCGAGAGATTTCTTTGAGCAATATGTTTTACTTTATTTTACCAGAAGGCCGGATTTTCTGGTTAAAAAAAAAAAA‑AAA‑A‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTcc                                                                                                   <  2:220106/148‑1 (MQ=255)
                                    gCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAA‑A‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTca                                                                                                <  1:537866/149‑1 (MQ=255)
                                    gCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAA‑A‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTca                                                                                                >  1:130652/1‑149 (MQ=255)
                                            aagagAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCAAGAAGGCCGGATTTTCTGGTTTCCAGTCGCG‑A‑AAAGA‑GATAAAGACTATTTTTCTCATTTTACATTGCCCTATTGTTGCTCACATGcaca                                                                                        >  2:733077/2‑149 (MQ=255)
                                              gACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAA‑A‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGcacaca                                                                                      >  2:497300/1‑149 (MQ=255)
                                                 aaCTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAA‑A‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTg                                                                                   <  2:564182/149‑1 (MQ=255)
                                                   cgttcggaTATCCAAGGGTTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAA‑A‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGt                                                                                 <  2:239688/143‑1 (MQ=255)
                                                    tgactgaTATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAA‑A‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCt                                                                                                  >  2:427775/1‑131 (MQ=255)
                                                    tgactgaTATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAA‑A‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCt                                                                                                  <  1:427775/131‑1 (MQ=255)
                                                    tgactgaTATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAA‑A‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTa                                                                                >  1:232196/1‑149 (MQ=255)
                                                             tCCAGAGATCTCCTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAA‑A‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGATAATGaaaaaa                                                                       <  1:609236/149‑1 (MQ=255)
                                                              cgagagATTCCTTCGATCTATATGTTTTCCTTTATTTTCTCGGAAGGTCGGATTTTCTGGTTTCCAGTCGCGAA‑AAA‑A‑GCTAACGACTATTTTTCGCATTTTGCACTGCCATATTGTTCCTCAGATGCACACATTGGTAATGaaaaaaa                                                                      <  1:733077/147‑1 (MQ=255)
                                                               cAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCG‑AAAAA‑A‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAg                                                                     >  2:950410/1‑149 (MQ=255)
                                                                agagATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAA‑A‑GATAACGACTATTTTTCTCATTTTGCAGTGc                                                                                                              >  1:409851/1‑107 (MQ=255)
                                                                agagATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAA‑A‑GATAACGACTATTTTTCTCATTTTGCAGTGc                                                                                                              <  2:409851/107‑1 (MQ=255)
                                                                agagATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAA‑A‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGa                                                                    >  2:383965/1‑149 (MQ=255)
                                                                         ttcGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAA‑A‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACg                                                           <  2:448674/149‑1 (MQ=255)
                                                                               cAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAA‑A‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTaa                                                     <  1:407294/149‑1 (MQ=255)
                                                                                        ttCCTTTATTTTCCCAGACGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAA‑A‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATa                                            <  1:584173/149‑1 (MQ=255)
                                                                                           cTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCG‑AAAAA‑A‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGcc                                         >  2:734185/1‑149 (MQ=255)
                                                                                             ttATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAA‑A‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCCCACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAg                                       <  1:383965/149‑1 (MQ=255)
                                                                                             ttATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAA‑A‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAg                                       <  1:497300/149‑1 (MQ=255)
                                                                                                     ccAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAA‑A‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGa                               <  1:718029/149‑1 (MQ=255)
                                                                                                      cAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAA‑A‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGaa                              <  1:107435/149‑1 (MQ=255)
                                                                                                       aGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAA‑A‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAGAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAAt                             >  1:924820/1‑149 (MQ=255)
                                                                                                        gAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAA‑A‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAAtt                            <  1:909097/149‑1 (MQ=255)
                                                                                                           ggCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAA‑A‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAg                         <  1:734185/149‑1 (MQ=255)
                                                                                                           ggCCGGATTTTCTGGTTACCAGTCGCGAA‑AAA‑A‑GATAACGACGCGTGAACACATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAg                         <  1:613740/149‑1 (MQ=255)
                                                                                                                        ggTTTCCAGTCGCGAA‑AAA‑A‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCTTTAGAGCCAGTTATTAGAATTAAGGATGAATTGGGTg            <  1:950410/149‑1 (MQ=255)
                                                                                                                              cAGTCGCG‑AAAAA‑A‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTGGGTGAAGTGc      <  1:456741/149‑1 (MQ=255)
                                                                                                                              cAGTCGCG‑AAAAA‑A‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTGGGTGAAGTGc      >  1:772243/1‑149 (MQ=255)
                                                                                                                              cAGTCGCG‑AAAAA‑A‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATGGGGGGAAGTGc      >  1:220016/1‑149 (MQ=255)
                                                                                                                                   cgcgaaaaa‑a‑GATAACGACTATTTTTTTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTGGGTGAAGTGCTGAt  <  2:618967/143‑1 (MQ=255)
                                                                                                                                       |||                                                                                                                                                
ACGGTAACTGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCG‑C‑AAA‑A‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTGGGTGAAGTGCTGAT  >  NC_000913_3_hsa_tpiA/1543888‑1544165

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: ‑