Predicted mutation
evidence seq id position mutation annotation gene description
RA NC_000913_3_hsa_tpiA 2,679,525 G→T A1074D (GCT→GAT)  yphG ← DUF4380 domain‑containing TPR repeat protein

Read alignment evidence...
  seq id position ref new freq score (cons/poly) reads annotation genes product
*NC_000913_3_hsa_tpiA2,679,5250GT98.3% 175.5 / ‑4.5 58A1074D (GCT→GAT) yphGDUF4380 domain‑containing TPR repeat protein
Reads supporting (aligned to +/- strand):  ref base G (1/0);  new base T (31/26);  total (32/26)
Fisher's exact test for biased strand distribution p-value = 1.00e+00
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 7.06e-01

GGTTTTTATTAACAACGGCTTATTCTAATTATTTTGTGATGAGCGGCAGCGCG‑TGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAAGCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCTGTTGTAAATCGCCATACAGCGACAACAAGTCAGG  >  NC_000913_3_hsa_tpiA/2679382‑2679667
                                                                                                                                                |                                                                                                                                              
ggTTTTTATTAACAACGGCTTATTCTAATTATTTTGTGATGAGCGGCAGCGCG‑TGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGa                                                                                                                                           >  1:269789/1‑149 (MQ=255)
 gTTTTTATTAACAACGGCTTATTCTAATTATTTTGTGATGAGCGGCAGCGCG‑TGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGAt                                                                                                                                          >  1:881289/1‑149 (MQ=255)
  tttttATTAACAACGGCTTATTCTAATTATTTTGTGATGAGCGGCAGCGCG‑TGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGttt                                                                                                                                         >  1:150217/1‑149 (MQ=255)
  tttttATTAACAACGGCTTATTCTAATTATTTTGTGATGAGCGGCAGCGCG‑TGCCGCTCAAATATTACAGTTAATAGGGTTTAGGGAACGCGGTTAAAAATAAAAGGCATCACGGTGGGGAATAATGCCGCTTTCGGCCAATCCGGAtt                                                                                                                                         >  1:535309/1‑149 (MQ=255)
      tattaACAACGGCTTATTCTAATTATTTTGTGATGAGCGGCAGCGCG‑TGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTGGGCCAAGCCGGATTAATc                                                                                                                                     >  1:22160/1‑149 (MQ=255)
         taACAACGGCTTATTCTAATTATTTTGTGATGAGCGGCAGCGCG‑TGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGcc                                                                                                                                  <  2:269789/149‑1 (MQ=255)
           acaacGGCTTATTCTAATTATTTTGTGATGAGCGGCAGCGCG‑TGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAACAATAAAAGGCCTCACGGTGGTGAATACTGCCGCTTTCGGCCACTCCGGATTAATAGCCGt                                                                                                                                >  1:592896/1‑149 (MQ=255)
                  cTTATTCTAATTATTTTGTGATGAGCGGCAGCGCG‑TGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCa                                                                                                                         <  2:881289/149‑1 (MQ=255)
                        cgaaTTATGTTGTGATGAGCGGCAACTCG‑TGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGa                                                                                                                   <  1:569489/147‑1 (MQ=255)
                        cTAATTATTTTGTGATGAGCGGCAGCGCG‑TGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGa                                                                                                                   <  2:968915/149‑1 (MQ=255)
                        cTAATTAGTTTGTGATGAGCGGCAGCGCG‑TGCCGCTCAAATAGTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGa                                                                                                                   <  1:566924/149‑1 (MQ=255)
                         tAATTATTTTGTGATGAGCGGCAGCGCG‑TGCCGCTCAAATATTACGGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGTATTATTCGCCGTCAATTCAGCGCGAg                                                                                                                  >  2:1024728/1‑149 (MQ=255)
                         tAATTATTTTGTGATGAGCGGCAGCGCG‑TGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCATGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAg                                                                                                                  >  2:179787/1‑149 (MQ=255)
                                   tatttgaGCGGCA‑CGCGCTGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCata                                                                                                        >  2:735464/5‑149 (MQ=255)
                                    tgatgaGCGGCAGCGCG‑TGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAGTCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCatat                                                                                                       >  2:521262/1‑149 (MQ=255)
                                    tgatgaGCGGCAGCGCG‑TGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCatat                                                                                                       >  1:984673/1‑149 (MQ=255)
                                     gatgaGCGGCAGCGCG‑AGCCGCCCAAATATCACAGTTAATCGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGAGAATAATGCCGCTTTCCGCCAATCCGGATTAATGGCCGGACATTCCGCGCGAGCAGACTCACAtt                                                                                                      >  2:625496/1‑149 (MQ=255)
                                       tgaGCGGCAGCGCG‑TGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAACTCAGCGCGATCAGACTCATATTgc                                                                                                    <  1:951703/149‑1 (MQ=255)
                                           cGGCAGCGCG‑TGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCAAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCaa                                                                                                <  1:188019/149‑1 (MQ=255)
                                            ggCAGCGCG‑TGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAAc                                                                                               <  1:687200/149‑1 (MQ=255)
                                                 cgcg‑TGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTccc                                                                                          <  2:853599/149‑1 (MQ=255)
                                                  gcg‑TGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTcccc                                                                                         >  1:460756/1‑149 (MQ=255)
                                                         cGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGccc                                                                                   >  1:314489/1‑149 (MQ=255)
                                                          gCTCAAATATTACAGTTAATAGGGTTTAGGGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGATTAATGCCGCTTTCGGCCTATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCGTATTGCGCAACCTCCCCGCGTccg                                                                                  >  2:9607/1‑148 (MQ=255)
                                                           cTCAAATATTACAGTTAATAGGGTTTAGTGAACGAGGTTAAACAGTCGATTCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCcg                                                                                 <  1:85193/149‑1 (MQ=255)
                                                                  atTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCATGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGc                                                                          <  1:179787/149‑1 (MQ=255)
                                                                    tACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCAGGATTAATTGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGccc                                                                        >  2:988938/1‑148 (MQ=255)
                                                                        gTTAATAGGGTTTAGAGAACGCGGTTAAAAATAAAAGGCATCAGGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCAt                                                                    <  2:649846/149‑1 (MQ=255)
                                                                             tAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGcca                                                               >  1:181477/1‑149 (MQ=255)
                                                                               gggTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGccacc                                                             <  1:358969/149‑1 (MQ=255)
                                                                                 gTTTAGTGAACGCGGTTAAAAATAAGAGGCATCACGGTGGTGAATAATGCTGCTTTCGGCCAATCCTGATTAATCGCCGTCAATACAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTTCCGCGGACGCCAGCATCGACACCAt                                                           >  1:993323/1‑149 (MQ=255)
                                                                                              ggTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCt                                              >  2:565952/1‑149 (MQ=255)
                                                                                               gTTAAAAATAAAAGGCATCACGGTGGTGAATACTGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGTGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCAtctttctt                                             <  1:347006/149‑1 (MQ=255)
                                                                                                   aaaaTAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTAtg                                         >  2:915396/1‑149 (MQ=255)
                                                                                                    aaaTAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCtt                                             >  1:288781/1‑144 (MQ=255)
                                                                                                    aaaTAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCtt                                             <  2:288781/144‑1 (MQ=255)
                                                                                                         aaaGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGCCCCCCGGGCGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGatgctg                                   >  1:204311/1‑149 (MQ=255)
                                                                                                           aGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCtgtt                                 <  1:939823/149‑1 (MQ=255)
                                                                                                               aTCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCTGTTGTaa                             >  1:458253/1‑149 (MQ=255)
                                                                                                               aTCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCAAGTCCCGCGGACGCCAGCATCGACACCATCAGGCATTTATCTTTATGCTGCTGTTGTaa                             >  1:697590/1‑149 (MQ=255)
                                                                                                                tCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCTGTTGTaaa                            <  2:535309/149‑1 (MQ=255)
                                                                                                                 cACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCaa                                                                                                <  1:652114/80‑1 (MQ=255)
                                                                                                                 cACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCaa                                                                                                >  2:652114/1‑80 (MQ=255)
                                                                                                                   cGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCTGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCAt                                                                    <  1:720297/106‑1 (MQ=255)
                                                                                                                   cGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCAt                                                                    >  2:720297/1‑106 (MQ=255)
                                                                                                                    ggtggtGAACAATGCCGCTTGCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGGCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCTGTTGTAAATCGc                        <  2:592896/149‑1 (MQ=255)
                                                                                                                      tggtgAATAATGCCGCTTTCGGCCCATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCTGTTGTAAATCGCCa                      <  1:917522/149‑1 (MQ=255)
                                                                                                                        gtgAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCATACCCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCTGTTGTAAATCGCCATa                    >  2:42190/1‑149 (MQ=255)
                                                                                                                          gAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCtt                                             <  2:795341/122‑1 (MQ=255)
                                                                                                                          gAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCtt                                             >  1:795341/1‑122 (MQ=255)
                                                                                                                                  ccGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCTGTTGTAAATCGCCATACAGCGacaac          >  2:6520/1‑149 (MQ=255)
                                                                                                                                  ccGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCTGTTGTAAATCGCCATACAGCGacaac          <  2:150217/149‑1 (MQ=255)
                                                                                                                                   cGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCCTTTTTCTTTATGCTGCTGTTGTAACCCGCCATCCcgcgccccca         >  2:825117/1‑143 (MQ=255)
                                                                                                                                    gCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGc                                                                          <  2:943938/83‑1 (MQ=255)
                                                                                                                                    gCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGc                                                                          >  1:943938/1‑83 (MQ=255)
                                                                                                                                    gCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCTGTTGTAAATCGCCATACAGCGAcaacaa        <  1:391584/149‑1 (MQ=255)
                                                                                                                                        tCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCTGTTGTAAATCGCCATACAGCGACAACAAGTCa    <  1:915396/149‑1 (MQ=255)
                                                                                                                                          ggCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCGGCTGTTGGAAATCGCCATACAGCGACAACAAGTCAgg  >  1:908719/1‑149 (MQ=255)
                                                                                                                                                |                                                                                                                                              
GGTTTTTATTAACAACGGCTTATTCTAATTATTTTGTGATGAGCGGCAGCGCG‑TGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAAGCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCTGTTGTAAATCGCCATACAGCGACAACAAGTCAGG  >  NC_000913_3_hsa_tpiA/2679382‑2679667

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: ‑