Predicted mutation
evidence seq id position mutation freq annotation gene description
RA NC_000913_3_hsa_tpiA 1,394,798 A→G 8.5% E524E (GAA→GAG mppA → murein tripeptide (L‑ala‑gamma‑D‑glutamyl‑meso‑DAP) transporter subunit

Read alignment evidence...
  seq id position ref new freq score (cons/poly) reads annotation genes product
*NC_000913_3_hsa_tpiA1,394,7980AG 8.5% 143.4 / 4.3 47E524E (GAA→GAGmppAmurein tripeptide (L‑ala‑gamma‑D‑glutamyl‑meso‑DAP) transporter subunit
Reads supporting (aligned to +/- strand):  ref base A (19/24);  new base G (2/2);  total (21/26)
Fisher's exact test for biased strand distribution p-value = 1.00e+00
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 4.60e-01

GAAAATACCGTTAAAGCGCGTAATGCCGATTACAACGCGGCAGAAAAAATCCTCATGGAGCAAGCACCGATTGCACCAATTTATCAATATACCAATGGACGATTAATCAAGCCGTGGCTGAAAGGTTATCCCATTAATAATCCTGAAGATGTGGCGTACAGTCGGACTATGTATATTGTGAAGCATTGATGTGATGGGAACTGGCGTTACCCTTGTGCATAACGCCAGTGATGTCTGATTTAGCGACCCTGTTCCGGCGGTGTAATGTTATCCATATACAGCGTCTGGCTGGG  >  NC_000913_3_hsa_tpiA/1394652‑1394944
                                                                                                                                                  |                                                                                                                                                  
gAAAATACCGTTAAAGCGCGTAATGCCGATTACAACGCGGCAGAAAAAATCCTCATGGAGCAAGCACCGATTGCACCAATTTATCAATATACCAATGGACGATTAATCAAGCCGTGGCTGAAAGGTTATCCCATTAATAATCCTGAAGAt                                                                                                                                                 <  3:274138/150‑1 (MQ=255)
gAAAATACCGTTAAAGCGCGTAATGCCGATTACAACGCGGCAGAAAAAATCCTCATGGAGCAAGCACCGATTGCACCAATTTATCAATATACCAATGGACGATTAATCAAGCCGTGGCTGAAAGGTTATCCCATTAATAATCCTGAAGAt                                                                                                                                                 >  3:196013/1‑150 (MQ=255)
gAAAATACCGTTAAAGCGCGTAATGCCGATTACAACGCGGCAGAAAAAATCCTCATGGAGCAAGCACCGATTGCACCAATTTATCAATATACCAATGGACGATTAATCAAGCCGTGGCTGAAAGGTTATCCCATTAATAATCCTGAAGAt                                                                                                                                                 >  3:195952/1‑150 (MQ=255)
gAAAATACCGTTAAAGCGCGTAATGCCGATTACAACGCGGCAGAAAAAATCCTCATGGAGCAAGCACCGATTGCACCAATTTATCAATATACCAATGGACGATTAATCAAGCCGTGGCTGAAAGGTTATCCCATTAATAATCCTGAAGAt                                                                                                                                                 <  2:519758/150‑1 (MQ=255)
      aCCGTTAAAGCGCGTAAGGCCGATTACAACGCGGCAGAAAAAATCCTCATGGAGCAAGCACCGATTGCACCAATTTATCAATATACCAATGGACGATTAATCAAGCCGTGGCTGAAAGGTTATCCCATTAATAATCCTGAAGATGTGGCg                                                                                                                                           <  1:567749/150‑1 (MQ=255)
        cGTTAAAGCGCGTAATGCCGATTACAACGCGGCAGAAAAAATCCTCATGGAGCAAGCACCGATTGCACCAATTTATCAATATACCAATGGACGATTAATCAAGCCGTGGCTGAAAGGTTATCCCATTAATAATCCTGAAGATGTGGCGTa                                                                                                                                         <  3:353098/150‑1 (MQ=255)
                    tattGCCGATTACAACGCGGCAGAAAAAATCCTCATGGAGCAAGCACCGATTGCACCAATTTATCAATATACCAATGGACGATTAATCAAGCCGTGGCTGAAAGGTTATCCCATTAATAATCCTGAAGATGTGGCGTACAGTCGGACTAt                                                                                                                             <  4:333144/147‑1 (MQ=255)
                     aaTGCCGATTACAACGCGGCAGAAAAAATCCTCATGGAGCGAGCACCGATTGCACCAATTTATCAATATACCAATGGACGATTAATCAAGCCGTGGCTGAAAGGTTATCCCATTAATAATCCTGAAGATGTGGCGTACAGTCGGACTATg                                                                                                                            <  2:140342/150‑1 (MQ=255)
                         ccGATTACAACGCGGCAGAAAAAATCCTCATGGAGCAAGCACCGATTGCACCAATTTATCAATATACCAATGGACGATTAATCAAGCCGTGGCTGAAAGGTTATCCCATTAATAATCCTGAAGATGTGGCGTACAGTCGGACTATGtata                                                                                                                        <  4:318224/150‑1 (MQ=255)
                               aCAACGCGGCAGAAAAAATCCTCATGGAGCAAGCACCGATTGCACCAATTTATCAATATACCAATGGACGATTAATCAAGCCGTGGCTGAAAGGTTATCCCATTAATAATCCTGAAGATGTGGCGTACAGTCGGACTATGTATATTGTGa                                                                                                                  <  1:184584/150‑1 (MQ=255)
                               aCAACGCGGCAGAAAAAATCCTCATGGAGCAAGCACCGATTGCACCAATTTATCAATATACCAATGGACGATTAATCAAGCCGTGGCTGAAAGGTTATCCCATTAATAATCCTGAAGATGTGGCGTACAGTCGGACTATGTATATTGTGa                                                                                                                  >  4:377165/1‑150 (MQ=255)
                                       gCAGAAAAAATCCTCATGGAGCAAGCACCGATTGCACCAATTTATCAATATACCAATGGACGATTAATCAAGCCGTGGCTGAAAGGTTATCCCATTAATAATCCTGAAGATGTGGCGTACAGTCGGACTATGTATATTGTGAAGCATtga                                                                                                          <  1:114588/150‑1 (MQ=255)
                                            aaaaaTCCTCATGGAGCAAGCACCGATTGCACCAATTTATCAATATACCAATGGACGATTAATCAAGCCGTGGCTGAAAGGTTATCCCATTAATAATCCTGAAGATGTGGCGTACAGTCGGACTATGTATATTGTGAAGCATtgatgtga                                                                                                     >  4:195229/1‑150 (MQ=255)
                                                      aTGGAGCAAGCACCGATTGCACCAATTTATCAATATACCAATGGACGATTAATCAAGCCGTGGCTGAAAGGTTATCCCATTAATAATCCTGAAGATGTGGCGTACAGTCGGACTATGTATATTGTGAAGCATTGATGTGATGGGAACTgg                                                                                           <  4:195952/150‑1 (MQ=255)
                                                      aTGGAGCAAGCACCGATTGCACCAATTTATCAATATACCAATGGACGATTAATCAAGCCGTGGCTGAAAGGTTATCCCATTAATAATCCTGAAGATGTGGCGTACAGTCGGACTATGTATATTGTGAAGCATTGATGTGATGGGAACTgg                                                                                           <  4:196013/150‑1 (MQ=255)
                                                       tGGAGCAAGCACCGATTGCACCAATTTATCAATATACCAATGGACGATTAATCAAGCCGTGGCTGAAAGGTTATCCCATTAATAATCCTGAAGATGTGGCGTACAGTCGGACTATGTATATTGTGAAGCATTGATGTGATGGGAACTGGc                                                                                          <  1:350599/150‑1 (MQ=255)
                                                       tGGACCAAGCAACGATTGCACCAATTTCCCCATAACACAGCACACGACAAACCAATCCGTGGCTGAAAGGTTATCCCATTAATAATCCTGAAGATGTGGCGTACAGTCGGACTATGTATATTGTGAAGCATTGATGTGATGGGAACTGGc                                                                                          <  1:406231/150‑1 (MQ=255)
                                                            caagcaCCGATTGCACCAATTTATCAATATACCAATGGACGATTAATCAAGCCGTGGCTGAAAGGTTATCCCATTAATAATCCTGAAGATGTGGCGTACAGTCGGACTATGTATATTGTGAAGCATTGATGTGATGGGAACTGGCGTTAc                                                                                     <  1:96747/150‑1 (MQ=255)
                                                                  ccGATTGCACCAATTTATCAATATACCAATGGACGATTAATCAAGCCGTGGCTGAAAGGTTATCCCATTAATAATCCTGAAGATGTGGCATACAGTCGGACTATGTATATTGTGAAGCATTGATGTGATGGGAACTGGCGTTACCCTtgt                                                                               >  4:212549/1‑150 (MQ=255)
                                                                   cGATTGCACCAATTTATCAATATACCAATGGACGATTAATCAAGCCGTGGCTGAAAGGTTATCCCATTAATAATCCTGAAGATGTGGCGTACAGTCGGACTATGTATATTGTGAAGCATTGATGTGATGGGAACTGGCGTTACCCTtgtg                                                                              <  1:543384/150‑1 (MQ=255)
                                                                     aTTGCACCAATTTATCAATATACCACGGAACAATTAATCAATCCATGGCTGAAAGGTTATCCCATTAATAATCCTGAAGATGTGGCGTACAGTCGGACTATGTATATATTGAAGCATTGATGTTATGGGAACTGGCGTTACCCTTGTGCa                                                                            >  2:290014/1‑150 (MQ=255)
                                                                       tGCACCAATTTATCAATATACCAATGGACGATTAATCAAGCCGTGGCTGAAAGGTTATCCCATTAATAATCCTGAAGATGTGGCGTACAGTCGGACTATGTATATTGTGAAGCATTGATGTGATGGGAACTGGCGTTACCCTTGTGCATa                                                                          >  4:360128/1‑150 (MQ=255)
                                                                           ccAATTTATCAATATACCAATGGACGATTAATCAAGCCGTGGCTGAAAGGTTATCCCATTAATAATCCTGAAGATGTGGCGTACAGTCGGACTATGTATATTGTGAAGCATTGATGTGATGGGAACTGGCGTTACCCTTGTGCATAACGc                                                                      >  1:237320/1‑150 (MQ=255)
                                                                           ccAATTTATCAATATACCAATGGACGATTAATCAAGCCGTGGCTGAAAGGTTATCCCACTAATAATCCTGAAGATGTGGCGTACAGTCGGACTATGTATATTGTGAAGCATTGATGTGATGGGAACTGGCGTTACACTTGTGCATAACGc                                                                      >  2:307775/1‑150 (MQ=255)
                                                                            cAATTTATCAATATACCAATGGACGATTAATCAAGCCGTGGCTGAAAGGTTATCCCATTAATAATCCTGAAGATGTGGCGTACAGTCGGACTATGTATATTGTGAAGCATTGATGTGATGGGAACTGGCGTTACCCTTGTGCATAACGcc                                                                     >  1:268278/1‑150 (MQ=255)
                                                                                 tATCAATATACCAATGGACGATTAATCAAGCCGTGGCTGAAAGGTTATCCCATTAATAATCCTGAAGATGTGGCGTACAGTCGGACTATGTATATTGTGAAGCATTGATGTGATGGGAACTGGCGTTACCCTTGTGCATAACGCCAGTGa                                                                <  3:286687/150‑1 (MQ=255)
                                                                                 tATCAATATACCAATGGACGATTAATCAAGCCGTGGCTGAAAGGTTATCCCATTAATAATCCTGAAGATGTGGCGTACAGTCGGACTATGTATATTGTGAAGCATTGATGTGATGGGAACTGGCGTTACCCTTGTGCATAACGCCAGTGa                                                                <  1:261846/150‑1 (MQ=255)
                                                                                    cAATATACCAATGGACGATTAATCAAGCCGTGGCTGAAAGGTTATCCCATTAATAATCCTGAAGATGTGGCGTACAGTCGGACTATGTATATTGTGAAGCATTGATGTGATGGGAACTGGCGTTACCCTTGTGCATAACGCCAGTGATGt                                                             <  1:514861/150‑1 (MQ=255)
                                                                                        ataCCAATGGACGATTAATCAAGCCGTGGCTGAAAGGTTATCCCATTAATAATCCTGAAGATGTGGCGTACAGTCGGACTATGTATATTGTGAAGCATTGATGTGATGGGAACTGGCGTTACCCTTGTGCATAACGCCAGTGATGTCTGa                                                         <  2:5581/150‑1 (MQ=255)
                                                                                          aCCAATGGACGATTAATCAAGCCGTGGCTGAAAGGTTATCCCATTAATAATCCTGAATATGTTTCTTACAGTCGGACTATGTATATTGTGAAGCATTGATGTGATGGGAACTTGCTTTACCCTTGTGCATAACGCCATTGATGTCTTAtt                                                       <  2:126761/150‑1 (MQ=255)
                                                                                                           cAAGCCGTGGCTGAAAGGTTATCCCATTAATAATCCTGAAGATGTGGCGTACAGTCGGACTATGTATATTGTGAAGCATTGATGTGATGGGAACTGGCGTTACCCTTGTGCATAACGCCAGTGATGTCTGATTTAGCGACCCTGTTCcgg                                      >  2:218888/1‑150 (MQ=255)
                                                                                                                   ggCTGAAAGGTTATCCCATTAATAATACTGAAGATGTGGCGTACAGTCGAAATATGTATATTGTGAAGCATTGAGGAGAAGGGAACTGGCGTTAGCATTGTGAATAACGACAGTAATGTAAAATTTAGGGACACTGTTACGGAGatgtta                              <  2:335193/150‑3 (MQ=255)
                                                                                                                      tGAAAGGTTATCCCATTAATAATCCTGAAGATGTGGCGTACAGTCGGACTATGTATATTGTGAAGCATTGATGTGATGGGAACTGGCGTTACCCTTGTGCATAACGCCAGTGATGTCTGATTTAGCGACCCTGTTCCGGCGGTGTAATGt                           <  4:271780/150‑1 (MQ=255)
                                                                                                                       gAAAGGTTATCCCACTAATAATCCTGAAGATGTTGCGTACAGTCAGACTATGTATATTGTGAAGCATTGAGGTGATGCGAACTGGCGTTACCCTTGTGCATAACGCCAGCGATGTCTGATTTAGCGACCCTGTTCCGGCGGTGTAATGtt                          >  2:142983/1‑150 (MQ=255)
                                                                                                                        aaaGGTTATCCCATTAATAATCCTGAAGATGTGGCGTACAGTCGGACTATGTATATTGTGAAGCATTGATGTGATGGGAACTGGCGTTACCCTTGTGCATAACGCCAGTGATGTCTGATTTAGCGACCCTGGTCCGGCGGTGTAATGTTa                         >  1:152061/1‑150 (MQ=255)
                                                                                                                                tCCCATTAATAATCCTGAGGATGTGGCGTACAGTCGGACTATGTATATTGTGAAGCATTGATGTGATGGGAACTGGCGTTACCCTTGTGCATAACGCCAGTGATGTCTGATTTAGCGACCCTGTTCCGGCGgtgt                                >  3:49935/1‑135 (MQ=255)
                                                                                                                                tCCCATTAATAATCCTGAGGATGTGGCGTACAGTCGGACTATGTATATTGTGAAGCATTGATGTGATGGGAACTGGCGTTACCCTTGTGCATAACGCCAGTGATGTCTGATTTAGCGACCCTGTTCCGGCGgtgt                                >  3:49845/1‑135 (MQ=255)
                                                                                                                                tCCCATTAATAATCCTGAGGATGTGGCGTACAGTCGGACTATGTATATTGTGAAGCATTGATGTGATGGGAACTGGCGTTACCCTTGTGCATAACGCCAGTGATGTCTGATTTAGCGACCCTGTTCCGGCGgtgt                                <  4:49845/135‑1 (MQ=255)
                                                                                                                                tCCCATTAATAATCCTGAGGATGTGGCGTACAGTCGGACTATGTATATTGTGAAGCATTGATGTGATGGGAACTGGCGTTACCCTTGTGCATAACGCCAGTGATGTCTGATTTAGCGACCCTGTTCCGGCGgtgt                                <  4:49935/135‑1 (MQ=255)
                                                                                                                                  ccATTAATAATCCTGAAGATGTGGCGTACAGTCGGACTATGTATATTGTGAAGCATTGATGTGATGGGAACTGGCGTTACCCTTGTGCATAACGCCAGTGATGTCTGATTTAGCGACCCTGTTCCGGCGGTGTAATGTTATCCATATACa               >  3:193593/1‑150 (MQ=255)
                                                                                                                                   cATTAATAATCCTGAAGATGTGGCGTACCGACGGCCAATGTATACAATGAAGCATGGAAGTGATGGGAACCGGCGTGACCCCTGTTCATCACACCAGTGATTGATGATTTAGCGACCCTTATCCGTCCGAGTAACATTATCCATATCCAg              >  2:298544/1‑150 (MQ=255)
                                                                                                                                   cATTAATAATCCTGAAGATGTGGCGTACAGTCGGACTATGTATATTGTGAAGCATTGATGTGATGGGAACTGGCGTTACCCTTGTGCATAACGCCAGTGATGTCTGATTTAGCGACCCTGTTCCGGCGGTGTAATGTTATCCATATACAg              >  2:189166/1‑150 (MQ=255)
                                                                                                                                        ataatCCTGAAGATGTGGCGTACAGTCGGACTATGTATATTGTGAAGCATTGATGTGATGGGAACTGGCGTTACCCTTGTGCATATCGCCAGTGATGTCTGATTTAGCGACCCTGTTCCGCCGGTGTAATGTTATCCATATACAGCGTct         <  2:172126/150‑1 (MQ=255)
                                                                                                                                         taatCCTGAAGATGTGGCGTACAGTCGGACTATGTATATTGTGAAGCATTGATGTGATGGGAACTGGCGTTACCCTTGTGCATAACGCCAGTGATGTCTGATTTAGCGACCCTGTTCCGGCGGTGTAATGTTATCCATATACAGCGTctg        >  1:337697/1‑150 (MQ=255)
                                                                                                                                         taatCCTGAAGATGTGGCGTACAGTCGGACTATGTATATTGTGAAGCATTGATGTGATGGGAACTGGCGTTACCCTTGTGCATAACGCCAGTGATGTCTGATTTAGCGACCCTGTTCCGGCGGTGTAATGTTATCCATATACAGCGTctg        >  1:299196/1‑150 (MQ=255)
                                                                                                                                               tGAAGATGTGGCGTACAGTCGGACTATGTATATTGTGAAGCATTGATGTGATGGGAACTGGCGTTACCCTTGTGCATAACGCCAGTGATGTCTGATTTAGCGACCCTGTTCCGGCGGTGTAATGTTATCCATATACAGCGTCTGGCTggg  <  3:210135/150‑1 (MQ=255)
                                                                                                                                               tGAAGATGTGGCGTACAGTCGGACTATGTATATTGTGAAGCATTGATGTGATGGGAACTGGCGTTACACTTGTGCATAACGCCAGTGATGTCTGATTTAGCGACCCTGTTCCGGCGGTGTAATGTTATCCATATACAGCGTCTGGCTggg  >  2:261441/1‑150 (MQ=255)
                                                                                                                                                  |                                                                                                                                                  
GAAAATACCGTTAAAGCGCGTAATGCCGATTACAACGCGGCAGAAAAAATCCTCATGGAGCAAGCACCGATTGCACCAATTTATCAATATACCAATGGACGATTAATCAAGCCGTGGCTGAAAGGTTATCCCATTAATAATCCTGAAGATGTGGCGTACAGTCGGACTATGTATATTGTGAAGCATTGATGTGATGGGAACTGGCGTTACCCTTGTGCATAACGCCAGTGATGTCTGATTTAGCGACCCTGTTCCGGCGGTGTAATGTTATCCATATACAGCGTCTGGCTGGG  >  NC_000913_3_hsa_tpiA/1394652‑1394944

Alignment Legend
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 27 ≤ ATCG/ATCG < 37 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG
Unaligned base: atcg    Masked matching base: atcg    Alignment gap:     Deleted base: