Predicted mutation
evidence seq id position mutation freq annotation gene description
RA NC_000913_3_hsa_tpiA 2,948,288 G→A 8.4% D241D (GAC→GAT)  amiC ← N‑acetylmuramoyl‑L‑alanine amidase

Read alignment evidence...
  seq id position ref new freq score (cons/poly) reads annotation genes product
*NC_000913_3_hsa_tpiA2,948,2880GA 8.4% 121.2 / 3.7 48D241D (GAC→GAT) amiCN‑acetylmuramoyl‑L‑alanine amidase
Reads supporting (aligned to +/- strand):  ref base G (24/20);  new base A (2/2);  total (26/22)
Fisher's exact test for biased strand distribution p-value = 1.00e+00
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 2.93e-01

CAGTACTGGTTGCACCTTTGGTTGAGAGCGCAAACACAGAGGAACCGCTCGGCTGACGACTGGTAAAGGCGTCGGCATGGATAGAGACAAACAGGTCAGCACGCTGTTTCTGGGCTTTTGCTACGCGCACTTGCAATGGAATGAAGATGTCTTCATTGCGCGTCATGTACACCTTCATATTGCCCTCTTTCTCGATCAGAGAGCGCAAACGGCGAGCTATTTGCAATACCACATCTTTTTCGCGCGTTTTGTATTTCCCCACCGCACCGGAGTCTTCGCCACCGTGGCCAGGGTC  >  NC_000913_3_hsa_tpiA/2948140‑2948434
                                                                                                                                                    |                                                                                                                                                  
cAGTACTGGTTGCACCTTTGGTTGAGAGCGCAAACACAGAGGAACCGCTCGGCTGACGACTGGTAAAGGCGTCGGCATGGATAGAGACAAACAGGTCAGCACGCTGTTTCTGGGCTTTTGCTACGCGCACTTGCAATGGAATGAAGATg                                                                                                                                                    >  1:476451/1‑149 (MQ=255)
        gTTGCACCTTTGGTTGAGAGCGCAAACACAGAGGAACCGCTCGGCTGACGACTGGTAAAGGCGTCGGCATGGATCGAGACAAACAGGTCAGCACGCTGTTTCTGGGCTTTTGCTACGCGCACTTGCAATGGAATGAAGATGTCTTCAtt                                                                                                                                            >  2:172520/1‑149 (MQ=255)
           gCACCTTTGGTTGAGAGCGCAAACACAGAGGAACCGCTCGGCTGACGACTGGTAAAGGCGTCGGCATGGATAGAGACAAACAGGTCAGCCCGCTGTTTCTGGGCTTTTGCTACGCGCCCTTGCAATGGAATGAAGATGTCTTCATTgcg                                                                                                                                         >  1:381973/1‑149 (MQ=255)
            cACCTTTGGTTGAGAGCGCAAACACAGAGGAACCGCTCGGCTGACGACTGGTAAAGGCGTCGGCATGGATAGAGACAAACAGGTCAGCACGCTGTTTCTGGGCTTTTGCTACGCGCACTTGCAATGGAATGAAGATGTCTTCATTgcgc                                                                                                                                        <  1:524571/149‑1 (MQ=255)
             aCCTTTGGTTGAGAGCGCAAACACAGAGGAACCGCTCGGCTGACGACTGGTAAAGGCGTCGGCATGGATAGAGACAAACAGGTCAGCACGCTGTTTCTGGGCTTTTGCTACGCGCACTTGCAATGGCATGAAGATGTCTTCATTTcgcg                                                                                                                                       >  2:324352/1‑149 (MQ=255)
              ccTTTGGTGGAGAGGTCAAACACCGAGGAACCGCTCGGCTGACGACTGGTAAAGGCGTCGGCATGGATAGAGACAAACAGGTCAGCACGCTGTTTCTGGGCTTTTGCTACGCGCACTTGCAATGGAATGAAGATGTCTTCATTGCGCGt                                                                                                                                      <  2:374623/149‑1 (MQ=255)
               atttGGTTGAGAGCGCAAACACAGAGGAACCGCTCGGCAGAGGACTGGTAAAGGGGTCGGCATGGATAGAGACAAACAGGTCAGCACGCTTTTTGTGGGCTTTTGCTCCGCCTACTTCCAATGGCATGCAGATGTCGTCATTGCCCGTc                                                                                                                                     >  2:304297/2‑149 (MQ=255)
                  ttgtggagaGCGCAAACACAGAGGAACCGCTCGGCTGACGACTGGTAAAGGCGTCGGCATGGATAGAGACAAACAGGTCAGCACGCTGTTTCTGGGCTTTTGCTACGCGCACTTGCAATGGAATGAAGATGTCTTCATTGCGCGTCATg                                                                                                                                  <  1:477815/144‑1 (MQ=255)
                     ttGAGAGCGCAAACACAGAGGAACCGCTCGGCTGACGACTGGTAAAGGCGTCGGCATGGATAGAGACAAACAGGTCAGCACGCTGTTTCTGGGCTTTTGCTACGCGCACTTGCAATGGAATGAAGACATCTTCAtt                                                                                                                                            <  2:446125/136‑1 (MQ=255)
                     ttGAGAGCGCAAACACAGAGGAACCGCTCGGCTGACGACTGGTAAAGGCGTCGGCATGGATAGAGACAAACAGGTCAGCACGCTGTTTCTGGGCTTTTGCTACGCGCACTTGCAATGGAATGAAGACATCTTCAtt                                                                                                                                            >  1:446125/1‑136 (MQ=255)
                       gagaGCGCAAACACAGAGGAACCGCTCGGCTGACGACTGGTAAAGGCGTCGGCATGGATAGAGACAAACAGGTCAGCACGCTGTTTCTGGGCTTTTGCTACGCGCACTTCCAATGGAATGAAGACGTCTTCATTGCGCGTCATGTacac                                                                                                                             >  2:126788/1‑149 (MQ=255)
                          agCGCAAACACAGAGGAACCGCTCGGCTGACGACTGGTAAAGGCGTCGGCATGGATAGAGACAAACAGGTCAGCACGCTGTTTCTGGGCTTTTGCTACGCGCACTTGCAATGGAATGAAGATGTCTTCATTGCGCGTCATGTACACCtt                                                                                                                          <  1:369629/149‑1 (MQ=255)
                                   acaGAGGAACCGCTCGGCTGACGACTGGTAAAGGCGTCGGCATGGATAGAGACAAACAGGTCAGCACGCTGTTTCTGGGCTTTTGCTACGCGCACTTGCAATGGAATGAAAATGTCTTCATTGCGCGTCATGTACCACTTCATATTTcc                                                                                                                 >  2:52940/1‑149 (MQ=255)
                                     agagGAACCGCTCGGCTGACGACTGGTAAAGGCGTCGGCATGGATAGAGACAAACAGGTCAGCACGCTGTTTCTGGGCTTTTGCTACGCGCACTTGCAATGGAATGAAGATGTCTTCATGGCGCGTCATGTCCCCCTTCATATTGCCct                                                                                                               >  1:165420/1‑149 (MQ=255)
                                                 cGGCTGACGACTGGTAAAGGCGTCGGCATGGATAGAGACAAACAGGTCAGCACGCTGTTTCTGGGCTTTTGCTACGCGCACTTGCAATGGAATGAAGATGTCTTCATTGCGCGTCATGTACACCTTCATATTGCCCTCTTTCTCGATCa                                                                                                   <  1:420979/149‑1 (MQ=255)
                                                 cGGCTGACGACTGGGAAAGGCGTCGGCATGGATAGAGGCAAACCGGTCAGCACGCTGTTTCTTGGCTTTTGCTACGCGCACTTGCAATTGAATGAAGATGTCTTCATTGCGCGTCATGTACACCTTCATATTGCCCTCTTTCTCGATCa                                                                                                   <  2:513609/149‑1 (MQ=255)
                                                   gCTGACGACTGGTAAAGGCGTCGGCATGGATAGAGACAAACAGGTCAGCACGCTGTTTCTGGGCTTTTGCTACGCGCACTTGCAATGGAATGAAGATGTCTTCATTGCGCGTCATGTACACCTTCATATTGCCCTCTTTCTCGATCaga                                                                                                 <  1:199497/149‑1 (MQ=255)
                                                      gactacGGGTAAAGGTGTCGGCTGTGATAGTTACGATCAGGTCAGCACTCTGTTTCTGGTATTTTGCTACGCGCACTTGCAATTGAATGTAGATGTCTTCATTGCGCGCCATGTCCACCTGCAGATTGCCCTCTTTCTCCATCagagtg                                                                                              <  2:205505/149‑3 (MQ=255)
                                                       acgatTGGTAAAGGCGTCGGCATGGATAGAGACAAACAGGTCAGCACGCTGTTTCTGGGCTTTTGCTACGCGCACTTGCAATGGAATGAAGATGTCTTCATTGCGCGTCATGTACACCTTCATATTGCCCTCTTTCTCGATCAGAGAgc                                                                                             <  2:218107/149‑1 (MQ=255)
                                                                aaaGGCGTCGGGATGGATAGAGACAAACAGGTCAGCACGCTGTTTCTGGGCTTTTGCTACGCGCACTTGCAATGGAATGAAGATGTCTTCATTGCGCGTCATGTACACCTTCATATTGCCCTCTTTCTCGATCAGAGAGCGCAAACGGc                                                                                    <  2:371298/149‑1 (MQ=255)
                                                                 aaGGCGTCGGCATGGATAGAGACAAACAGGTCAGCACGCTGTTTCTGGGCTTTTGCTACGCGCACTTGCAATGGAATGAAGATGTCTTCATTGCGCGTCATGTACACCTTCATATTGCCCTCTTTCTCGATCAGCGAGCGCAAACGGCg                                                                                   >  2:651438/1‑149 (MQ=255)
                                                                  aGGTGTCTGCCTAGATATCGACAAACAGGTTAGCACGCTGTTTCTCGGCTTTTGCTACGCGCACTTGCAATGGAATGAAGATGTCTTCATTGCGCGTCATGTACACCTTCATATTGCCCTCTTTCTCGATCAGAGAGCGCAAACGGCGa                                                                                  <  1:179102/149‑1 (MQ=255)
                                                                       tCGGCATGGATAGAGACAAACAGGTCAGCACGCTGTTTCTGGGCTTTTGCTACGCGCACTTGCAATGGAATGAAGATGTCTTCATTGCGCGTCATGTACACATTCATATTGCCCTCATTCTCGAGCAGAGAGCGCAACCGACGAgatct                                                                             >  2:28505/1‑145 (MQ=255)
                                                                            aTGGATAGAGACAAACAGGTCAGCACGCTGTTTCTGGGCTTTTGCTACGCGCACTTGCAATGGAATGAAGATGTCTTCATTGCGCGTCATGTACACCTTCATATTGCCCTCTTCCTCGCGCAGAGAGCGCAAACGGCGACCTATTTGCa                                                                        >  2:530016/1‑149 (MQ=255)
                                                                            aTGGAAAGAGACAAACAGGTCAGAACGCTGTATCTGGGCTTTTGCTACGCGCAGTTGCAATGGAATTAAGATGTCTTCATTACGCGTCATGTACACCTTCATATTGCCCTCTTTATCGATCAGCAAGCGCAAACGGCGAGCTATTTGCa                                                                        >  2:487565/1‑149 (MQ=255)
                                                                                 tAGAGACAAACAGGTCAGCACGCTGTTTCTGGGCTTTTGCTACGCGCACTTGCAATGGAATGAAGATGTCTTCATTGCGCGTCATGTACACCTTCATATTGCCCTCTTTCTCGATCAGAGAGCGCAAACGGCGAGCTATTTGCAATAcc                                                                   >  1:427861/1‑149 (MQ=255)
                                                                                      aCAAACAGGTCAGTACGCCGGTTCTGGGGTTTCGCTACGGGCACTTGCAATGGAATGAATATGTCTTCATTGCGCCTCATGTTCACCTTCATATTGCCCTCTTTCTCGATCAGAGAGCGCAAACGGCGAGCTATTTGCAATACCACATc                                                              <  2:23594/149‑1 (MQ=255)
                                                                                      aCAAACAGGTCAGCACGCTGTTTCTGGGCTTTTGCTACGCGCACTTGCAATGGAATGAAGATGTCTTCATTGCGCGTCATGTACACCTTCATATTGCCCTCTTTCTCGATCAGAGAGCGCAAACGGCGAGCTATTTGCAATACCACATc                                                              <  1:92202/149‑1 (MQ=255)
                                                                                            gggTCAGCACGCTGTTTCTGGGCTTTTGCTACGCGCACTTGCAATGGAATGAAGATGTCTTCATTGCGCGTCATGTACACCTTCATATTGCCCTCTTTCTCGATCAGAGAGCGCAAACGGCGAGCTATTTGCAATACCACATCTTTTTc                                                        <  1:447061/148‑1 (MQ=255)
                                                                                              gTCAGCACGCTGTTTCTGGGCTTTTGCTACGCGCACTTGCAATGGAATGAAGATGTCTTCATTGCGCGTCATGTACACCTTCATATTGCCCTCTTTCTCGATCAGAGAGCGCAAACGGCGAGCTATTTGCAATACCACATCTTTTTcgc                                                      >  1:299022/1‑149 (MQ=255)
                                                                                                   cACGCTGTTTCTGGGCTTTTGCTACGCGCACTTGCAATGGAATGAAGATGTCTTCATTGCGCGTCATGTACACCTTCATATTGCCCTTTTTCTCTATCAGAGAGCGCAAACGGCGAGCTATTTGCAATACCACATCTTTTTCGCGCGtt                                                 <  1:570232/149‑1 (MQ=255)
                                                                                                   cACGCTGTTTCTGGGCTTTTGCTACGCGCACTTGCAATGGAATGAAGATGTCTTCATTGCGCGTCATGTACACCTTCATATTGCCCTCTTTCTCGATCAGAGAGCGCAACCGGCGAGCTATTTGCAATACCACATCTTTTTCGCGCGtt                                                 >  1:79122/1‑149 (MQ=255)
                                                                                                      gcggTTTCTGGGCTTTGGCGACGCGCTCTTTCAATGGAACGAATCTGTCTTCTTTGCGCGTCATCTACCAACACCTACTTCTCTCTTTCTCGATCACAGAGCGCACACGGCTATTTATTTGCAATACTACATCTTTTTCGCGCGTTTTg                                              <  2:230/146‑1 (MQ=255)
                                                                                                      gCTGTTTCTGGGCTTTTGCTACGCGCACTTGCAATGGAATGAAGATGTATTCATTGCGCGTCATGTACACCTTCATATTGCCCTCTTTCTCGATCAGAGAGCGCAAACGGCGAGCTATTTGCAATACCCCATCTTTTTCGCGCGTTTTg                                              >  1:145155/1‑149 (MQ=255)
                                                                                                       cTGTTTCTGGGCTTTTGCTACGCGCACTTGCAATGGAATGAAGATGTCTTCATTGCGCGTCATGTACACCTTCATATTGCCCTCTTTCTCGATCAGAGAGCGCAAACGGCGAGCTATTTGCAATACCACATCTTTTTCGCGCGTTTTGt                                             <  1:579433/149‑1 (MQ=255)
                                                                                                        tGTTTCTGGGCTTTTGCTACCCGCACTTGCAATGGAATGAAGATGTCTTCATTGCGCGTCATGTACACCTTCATATTGCCCTCTTTCTCGATCAGAGAGCGCAAACGGCGAGCTATTTGCAATACCACATCTTTTTCGCGCGTTTTGTa                                            >  2:44506/1‑149 (MQ=255)
                                                                                                          tttCTGGGCTTTTGCTACGCGCACTTGCAATGGAATGAAGATGTCTTCATTGCGCGTCATGTACCCCTTCATATTGCCCTCTTTCTCGATCAGAGAGCGCAAACGGCGGGCGATTTGCAATACCACATCTTTTTGGCGCGTTTTGTAtt                                          >  1:221525/1‑149 (MQ=255)
                                                                                                              ggggCTTTTGCTACGCGTACTTGCAATGGAATGAAGATGTCTTCATTGCGCGTCATGTACACCTTCATATTGCCCTCTTTCTCGATCAGAGAGCGCAAACGGCGAGCTATTTGCAATACCACATCTTTTTCGCGCGTTTTGTATTTccc                                      <  1:148113/148‑1 (MQ=255)
                                                                                                               gggCTTTTGCTACGCGCACTTGCAATGGAATGAAGATGTCTTCATTGCGCGTCATGTACACCTTCATATTGCCCTCTTTCTCGATCAGAGAGCGCAAACGGCGAGCTATTTGCAATACCACATCTTTTTCGCGCGTTTTGTATTTcccc                                     <  1:73592/149‑1 (MQ=255)
                                                                                                                     ttGCTACGCGCACTTGCAATGGAATGAAGATGTCTTCATTGCGCGTCATGTACACCTTCATATTGCCCTCTTTCTCGATCAGAGAGCGCAAACGGCGAGCTATTTGCAATACCACATCTTTTTCGCGCGTTTTGTATTTCCCcaccgca                               >  1:234620/1‑149 (MQ=255)
                                                                                                                          aCGGGCACTTGCAATGAAATGAAGATGTCTTACTTGCGCGTCATGTACACCTTCATATTGCCGTCTTTCTCGATCAGAGAGCGCAAACGGCGAGCTATTTGCAATACCACATCTTTTTCGCGCGTTTTGTATTTCCCCACCGCACCGGa                          <  2:72995/149‑1 (MQ=255)
                                                                                                                            gcgcACTTGCAATGGAATGAAGATGTCTTCATTGCGCGTTATGTACACCTTCATATTTCCCTCTTTCTCGATCAGAGAGCGCAAACGGCGAGCTATTTGCAATACCACATCTTTTTCGCGCGTTTTGTATTTCCCCACCGCACCGGaat                        >  1:398790/1‑147 (MQ=255)
                                                                                                                                  ttGCAATGGAATGAAGATGTCTTCATTGCGCGTCATGTACACCTTCATATTGCCCTCTTTCTCGATCAGAGAGCGCAAACGGCGAGCTATTTGCAATACCACATCTTTTTCGCGCGTTTTGTATTTCCCCACCGCACCGGAGTCTTCGc                  >  1:383967/1‑149 (MQ=255)
                                                                                                                                  ttGCAATGGAATGAAGATGTCTTCATTGCGCGTCATGTACACCTTCATATTGCCCTCTTTCTCGATCAGAGAGCGCAAACGGCGAGCTATTTGCAATACCACATCTTTTTCGCGCGTTTTGTATTTCCCCACCGCACCGGAGCCTTCGc                  >  1:507801/1‑149 (MQ=255)
                                                                                                                                      aaTGGAATGAAGATGTCTTCATTGCGCGTCATGTACACCTTCATATTGCCCTCTTTCTCGATCAGAGAGCGCAAACGGCGAGCTATTTGCAATACCACATCTTTTTCGCGCGTTTTGTATTTCCCCACCGCACCGGAGTCTTCGCCAcc              >  2:347630/1‑149 (MQ=255)
                                                                                                                                       gcgcaaTGAAGACATCTTCATTGCGCGTCATGTACACCTTCATATTGCCCTCTTTCTCGATCAGAGAGCGCAAACGGCGAGCTATTTGCAATACCACATCTTTTTCGCGCGTTTTGTATTTCCCCACCGCACCGGAGTCTTCGCCAc               >  2:422477/5‑147 (MQ=255)
                                                                                                                                       gcgcaaTGAAGACATCTTCATTGCGCGTCATGTACACCTTCATATTGCCCTCTTTCTCGATCAGAGAGCGCAAACGGCGAGCTATTTGCAATACCACATCTTTTTCGCGCGTTTTGTATTTCCCCACCGCACCGGAGTCTTCGCCAc               <  1:422477/143‑1 (MQ=255)
                                                                                                                                                aGATGTCTTCATTGCGCGTCATGTACACCTTCATATTGCCCTCTTTCTCGATCAGAGAGCGCAAACGGCGAGCTATTTGCAATACCACATCTTTTTCGCGCGTTTTGTATTTCCCCACCGCACCGGAGTCTTCGCCACCGTGGCCAggg    >  2:262322/1‑149 (MQ=255)
                                                                                                                                                  aTGTCTTCATTGCGCGTCATGTACACCTTCATATTGCCCTCTTTCTCGATCAGAGAGCGCAAACGGCGAGCTATTTGCAATACCACATCTTTTTCGGGCGGTTTGTATTTCCCCACCGCACCGGAGGCTTCGCCACCGCAGCCAgggct  >  2:175191/1‑147 (MQ=255)
                                                                                                                                                    |                                                                                                                                                  
CAGTACTGGTTGCACCTTTGGTTGAGAGCGCAAACACAGAGGAACCGCTCGGCTGACGACTGGTAAAGGCGTCGGCATGGATAGAGACAAACAGGTCAGCACGCTGTTTCTGGGCTTTTGCTACGCGCACTTGCAATGGAATGAAGATGTCTTCATTGCGCGTCATGTACACCTTCATATTGCCCTCTTTCTCGATCAGAGAGCGCAAACGGCGAGCTATTTGCAATACCACATCTTTTTCGCGCGTTTTGTATTTCCCCACCGCACCGGAGTCTTCGCCACCGTGGCCAGGGTC  >  NC_000913_3_hsa_tpiA/2948140‑2948434

Alignment Legend
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 8 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 27 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG
Unaligned base: atcg    Masked matching base: atcg    Alignment gap: ‑    Deleted base: ‑