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_tpiA1,544,0220CA88.5% 73.8 / ‑6.1 27L13F (TTG→TTTnarUnitrate/nitrite transporter
Reads supporting (aligned to +/- strand):  ref base C (2/1);  new base A (11/12);  total (13/14)
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

ACTGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGCAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTGGGTGAA  >  NC_000913_3_hsa_tpiA/1543894‑1544157
                                                                                                                                 |                                                                                                                                        
aCTGCGCTAAATAGCATCTAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGCTTTCTTCGAGCGATATGTTTTCCTTTATTTGCCCATAAGGCCGGATTTTCTAGTTTCCAGTCGCGCAAAAAGATAACGATTAtttt                                                                                                                      >  2:430410/1‑149 (MQ=255)
                       acaGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCTAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTg                                                                                               >  1:247105/1‑149 (MQ=255)
                          gagggCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTc                                                                                            <  2:527339/146‑1 (MQ=255)
                          gAAGGAAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTc                                                                                            <  1:494314/149‑1 (MQ=255)
                             ggCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTc                                                                                         <  2:445812/149‑1 (MQ=255)
                                 agaagTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTGTTTTCCCAGAAGGCCGGATTTGCTGGTTTCCAGTCGCGAAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACAt                                                                                     >  1:540493/1‑149 (MQ=255)
                                        gACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGcacaca                                                                              >  1:534789/1‑149 (MQ=255)
                                          cAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACAtt                                                                            >  2:112613/1‑149 (MQ=255)
                                                         cAGAGATGTCTGCTAGCAATATGTTGTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAAAAAAGATAACGACTATTTTTGTCATTTTGCAGTGGCCAAGTTTGCCTCACATGCACCCATTGGTAATGAAAAAAAg                                                             >  2:559957/1‑149 (MQ=255)
                                                          agagATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAACAGGCCGGATTTTCTGGACTCCTGCCGCGCAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATTAAACAAAGa                                                            >  1:522508/1‑149 (MQ=255)
                                                           gagaTTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGAc                                                           >  2:226356/1‑149 (MQ=255)
                                                               tttCTTAGAGCAAAATGTTTTCCTTTATTTTACCAGAAGAAAGAAAAATCTGGTTAACAGTCGCGAAAAAAGATAACGACTATTTTCCTCATTTTGCAGGGCCATATTGTTCCTCACATGCACACAAAAAAAAAAAAAAAAAGACaaaa                                                       <  2:491052/149‑1 (MQ=255)
                                                                ttcttcGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCATAAAAAGATAACGACTACGTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAac                                                      <  1:527819/149‑1 (MQ=255)
                                                                       aGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGCAAAAAAGACAAAACACGAGGt                                               >  1:58605/1‑149 (MQ=255)
                                                                        gCAATTTGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTATGGTTTCCAGTCGCGAAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTa                                              <  2:352398/149‑1 (MQ=255)
                                                                        gCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTa                                              <  1:218305/149‑1 (MQ=255)
                                                                               gTTTTCCTTTATTTCCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCa                                       <  1:76507/149‑1 (MQ=255)
                                                                                      tttATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAAACCAAACACGAGGTAAGGCGCAATAGCCa                                >  2:24556/1‑149 (MQ=255)
                                                                                         aTTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGtt                             >  1:283818/1‑149 (MQ=255)
                                                                                                 aGACGGCCGGATTCTCTGGTTTCCAGTCGCGACACAAGATCCCGTCTTTTTTTCTCATTTTGCAGTGCCACATTGTCCCTCACATGCACAAATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAAt                     <  1:559957/149‑1 (MQ=255)
                                                                                                     ggCCGGATTTTCTGGTTTCCAGTCGCGAAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAg                 <  1:332710/149‑1 (MQ=255)
                                                                                                     ggCCGGATTTTCTGGTTTCCAGTCGCGAAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAg                 <  1:306418/149‑1 (MQ=255)
                                                                                                      gccgttttttCTTTTTTCCAGTCGCGAAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGTTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAgg                >  2:36115/7‑149 (MQ=255)
                                                                                                                    tttCCAGTCGCGAAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCTTCACATGCACACATTGGAAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTGGGTGac  <  2:540493/149‑2 (MQ=255)
                                                                                                                    tttCCAGTCGCGAAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGc                                  >  2:410741/1‑117 (MQ=255)
                                                                                                                    tttCCAGTCGCGAAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGc                                  <  1:410741/117‑1 (MQ=255)
                                                                                                                    tttCCAGTCGCGAAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTGGGTGaa  <  1:112613/149‑1 (MQ=255)
                                                                                                                                 |                                                                                                                                        
ACTGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGCAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTGGGTGAA  >  NC_000913_3_hsa_tpiA/1543894‑1544157

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: