Predicted mutation
evidence seq id position mutation freq annotation gene description
RA NC_000913_3_hsa_tpiA 4,187,572 G→T 18.9% M747I (ATG→ATT)  rpoC → RNA polymerase, beta prime subunit

Read alignment evidence...
  seq id position ref new freq score (cons/poly) reads annotation genes product
*NC_000913_3_hsa_tpiA4,187,5720GT18.9% 84.8 / 14.4 49M747I (ATG→ATT) rpoCRNA polymerase, beta prime subunit
Reads supporting (aligned to +/- strand):  ref base G (15/24);  new base T (5/4);  total (21/28)
Fisher's exact test for biased strand distribution p-value = 4.60e-01
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 3.82e-01

GGATAACCTGCAAACTGAAACCGTGATTAACCGTGACGGTCAGGAAGAGAAGCAGGTTTCCTTCAACAGCATCTACATGATGGCCGACTCCGGTGCGCGTGGTTCTGCGGCACAGATTCGTCAGCTTGCTGGTATGCGTGGTCTGATGGCGAAGCCGGATGGCTCCATCATCGAAACGCCAATCACCGCGAACTTCCGTGAAGGTCTGAACGTACTCCAGTACTTCATCTCCACCCACGGTGCTCGTAAAGGTCTGGCGGATACCGCACTGAAAACTGCGAACTCCGGTTACCTGA  >  NC_000913_3_hsa_tpiA/4187425‑4187720
                                                                                                                                                   |                                                                                                                                                    
ggATAACCTGCAAACTGAAACCGTGATTAACCGTGACGGTCAGGAAGAGAAGCAGGTTTCCTTCAACAGCATCTACATGATGGCCGACTCCGGTGCGCGTGGTTCTGCGGCACAGATTCGTCAGCTTGCTGGTATGCGTGGTCTGATgg                                                                                                                                                     <  1:316676/149‑1 (MQ=255)
       cTGCAAACTGAAACCATGATTAACCGTGACGGTCAGGAAGAGAAGCAGGTTTCCTTCAACAGCATCTACATGATGGCCGACTCCGGTGCGCGTGGTTCTGCGGCACAGATTCGTCAGCTTGCTGGTATGCGTGGTCTGATTGCGAGGcc                                                                                                                                              >  1:495023/1‑149 (MQ=255)
        tGCAAACTGAAACCGTGATTAACCGTGACGGTCAGGAAGAGAAGCAGGTTTCCTTCAACAGCATCTACATGATGGCCGACTCCGGTGCGCGTGGTTCTGCGGCACAGATTCGTCAGCTTGCTGGTATGCGTGGTCTGATGGCGCAGACg                                                                                                                                             >  2:127028/1‑149 (MQ=255)
        tGCAAACTGAAACCGTGATTAACCGTGACGGTCAGGAAGAGAAGCAGGTTTCCTTCAACAGCATCTACATGATGGCCGACTCCGGTGCGCGTGGTTCTGCGGCACAGATTCGTCAGCTTGCTGGTATGCGTGGTCTGATGGCGAAGCCg                                                                                                                                             >  2:310435/1‑149 (MQ=255)
          cAAACTGAAACCGTGATTACCCGTGAAGGTCAGGAAGAGCAGCAGGTTTCCTTCAACAGCATCTACACTATGGCCGACTCCGGTGCGCGGGTGTCGGCGGCACAGGTTCGTCAGCTTGCTGGTATGCGTGGTCTGATGGCGAAGCCGGa                                                                                                                                           <  2:318534/149‑1 (MQ=255)
           aaaCTGAAACCGTGATTAACCGTGACGGTGAGGAAGAGAGGCAGGTTTCCTTCAACAGCATCTACATGATTGCCGACTCCGGTGCGCGCGGTCGTGCAGCACAGATTCGTCAGCTTGCTGGTATGCGTGGTCTGATTGCGAAGCCGGAt                                                                                                                                          <  1:292417/149‑1 (MQ=255)
           aaaCTGAAACCGTGATTAACCGTGACGGTCAGGAAGAGAAGCAGGTTTCCTTCAACAGCATCTACATGATGGCCGACTCCGGTGCGCGTGGTTCTGCGGCACAGATTCGTCAGCTTGCTGGTATGCGTGGTCTGATGGCGAAGCCGGAt                                                                                                                                          <  1:567248/149‑1 (MQ=255)
                       tGATTAACCGTGACGGTCAGGAAGAGAAGCAGGTTTCCTTCAACAGCATCTACATGATGGCCGACTCCGGTGCGCGTGGTTCTGCGGCACAGATTCGTCAGCTTGCTGGTATGCGTGGTCTGATGGCGAAGCCGGATGGCTCCatcatc                                                                                                                              <  1:330028/149‑1 (MQ=255)
                            aaCCGGGACGGTCAGGAAGAGGAGCAGGTTTCCTTTAACAGCATCTACATGATGGGCGACTCCGGTGCGCGTGGTTCTGCGGCACAGATTCGTCAGCTTGCTGGTATGCGTGGTCTGATGGCGAAGCCGGATGGCTCCATCATCGAAAc                                                                                                                         <  1:260147/149‑1 (MQ=255)
                              ccGTGACGGTCAGGAAGAGAAGCAGGTTTCCTTCAACAGCATCTACATGATGGCCGACTCCGGTGCGCGTGGTTCTGCGGCACAGATTCGTCAGCTTGCTGGTATGCGTGGTCTGATGGCGAAGCCGGATGGCTCCATCATCGAAACGc                                                                                                                       >  1:61357/1‑149 (MQ=255)
                                       tCAGGAAGAGAAGCAGGTTTCCTTCAACAGCATCTACATGATGGCCGACTCCGGTGCGCGTGGTTCTGCGGCACAGATTCGTCAGCTTGCTGGTATGCGTGGTCTGATGGCGAAGCCGGATGGCTCCATCATCGAAACGCCAATCACcg                                                                                                              >  1:231353/1‑149 (MQ=255)
                                        cAGGAAGAGAAGCAGGTTTCCTTCATCAGCATCTACATGATGGCCGACTCCGGTGCGCGTGGTTCTGCGGCACAGATTCGTCAGCTTGCTGGTATGCGTGGTCTGATGGCGAAGCCGGATGGCTCCATCATCGAAACGCCAATCACcgc                                                                                                             <  1:651679/149‑1 (MQ=255)
                                           gAATAGAAGCAGGGTTCATTCTTTATCATCTACGTGATGTCCGACTTCTGTTCGCGTGGTTCTGCTGCACATCTTCTTCAGCTTCCTGCTATGCGTGGTCTGTTGGCGATGCCGTATGGCTCCATCATCGAAACGCCAATCACCGCGaa                                                                                                          <  2:620368/149‑1 (MQ=255)
                                           caaGGGACGCCGGTCTCCATGAACACCACCCACTGGATGGCCGACTCCGGTGCGCGTGGTTCTGCGGCACAGATTCGTCAGCTTGCTGGTATGCGTGGTCTGATGGCGAAGCCGGATGGCTCCATCATCGAAACGCCAATCACCGCGaa                                                                                                          <  1:165417/148‑1 (MQ=255)
                                                gaAGCAGGTTTCCTTCAACAGCATCTACATGATGGCCGACTCCGGTGCGCGGGGTTCTGCGGCACAGATTCGTCAGCTTGCTGGTATGCGTGGTCTGATGGCGAAGCCGGATGGCTCCATCATCGAAACGCCAATCACCGCGAACTTcc                                                                                                     <  1:28299/149‑1 (MQ=255)
                                                 aaGCAGGTTTCCTTCAACAGCATCTACATGATGGCCGACTCCGGTGCGCGTGGTTCTGCGGCACAGATTCGTCAGCTTGCTGGTATGCGTGTTCTGATGGCGAAGCCGGATGACGCAATCATCGAAACGCCAATCACCGCGAACTTCCg                                                                                                    >  1:272471/1‑149 (MQ=255)
                                                 aaGCAGGTTTCCTTCAACAGCATCTACATGATGGCCGACTCCGGTGCGCGTGGTTCTGCGGCACAGATTCGTCAGCTTGCTGGTATGCGTGGGCTGATTGCGAAGCCGGATGGCTCCATCATCGAAACGCCAATCACCGCGAACTTCCg                                                                                                    >  1:369347/1‑149 (MQ=255)
                                                   gCAGGTTTCCTTCAACAGCATCTACATGATGGCCGACTCCGGTGCGCGTGGTTCTGCGGCACAGATTCGTCGGCTTGCTGGTATGCGTGGTCTGATTGCGAAGCCGGATAGCTCCATCATCGCGACGCCAATCACCGCGAACTTCCGTg                                                                                                  >  2:620016/1‑149 (MQ=255)
                                                      ggTTTCCTTCAACAGCACCTACATGATGGCCGACTCCGGTGCGCGTGGTTCTGCGGCACAGATTCGTCAGCTTGCTGGTATGCGTGGTCTGATGGCGAAGCCGGATGGCTCCATCATCGAAACGCCAATCACCGCGAACTTCCGTGAAg                                                                                               <  1:126878/149‑1 (MQ=255)
                                                        ttgccTTCAACAGCATCTACATGATGGCCGACTCCGGTGCGCGTGGTTCTGCGGCACAGATTCGTCAGCTTGCTGGTATGCGTGGTCTGATGGCGAAGCCGGATGGCTCTATCATCGAAACGCCAATCACCGCGAACTTCCGTGAAGGt                                                                                             <  2:475284/146‑1 (MQ=255)
                                                         tctcTTCAACAGCACCGACATTGTGGCCGACTCCGGTGCGCGTGGTTCTGCTGCACATATCCGTCAGCTTGCTGGTATGCGTTGTCTGATTGCGAAGCCGGATGGCTCCATCATCGAAACGCCAATCACCGCGAACTTCCGTGAAGGTc                                                                                            <  1:465670/146‑1 (MQ=255)
                                                                aaCAGCATCTACATGATGGCCGACTCCGGTGCGCGTGGTTCTGCGGCACAGATTCGTCAGCTTGCTGGTATGCGTGGTCTGATGGCGAAGCCGGATGGCTCCATCATCGAAACGCCAATCACCGCGAACTTCCGTGAGGGTCTGAAGGt                                                                                     >  2:381837/1‑149 (MQ=255)
                                                                 aCAGCATCTACGTGAGGGCCGAATCCGGTGGCCGTGGTTCGGCGACACAGACCCCCCATCATGCTGGTATGCGTGGTCTGATGGCGAAGCCGGATGGCTCCATCATCGAACCGCCAATCACCGCGAACTTCCGTGAAGGTCTGAACGTa                                                                                    <  2:328656/149‑1 (MQ=255)
                                                                 aCAGCATCTACATGATGGCCGACTCCGGTGCGCGTGGTTCTGCGGCACAGATTCGTCAGCTTGCTGGTATGCGTGGTCTGATGGCGAAGCCGGATGGCTCCATCATCGAAACGCCAATCACCGCGAACTTCCGTGAAGGTCTGAACGTa                                                                                    <  1:538755/149‑1 (MQ=255)
                                                                   atgatttACTTGATGGCCGACTCCGGTGCCGGTGGTTCTGCGGCACAGCTTCGTCAGCTTGCTGGTATGCGTGGTCTGATGGCGAAGCCGGATGGCTCCATCATCGAAACGCCAATCACCGCGAACTTCCGTGAAGGTCTGAACGTACt                                                                                  <  2:46995/143‑1 (MQ=255)
                                                                        cTACATGATGGCCGACTCCGGTGCGCGTGGTTCTGCGGCACAGATTCGTCAGCTTGCTGGTATGCGTGGTCTGATTGCGAAGCCGGATGGCTCCATCATCGAAACGCCAATCACCGCGAACTTCCGTGAAGGTCTGAACGTACTCCAGt                                                                             >  1:628754/1‑149 (MQ=255)
                                                                         tACATGATGGCCGACTCCGGTGCGCGTGGTTCTGCGGCACAGATTCGTCAGCTTGCTGGTATGCGTGGTCTGATGGCGAAGCCGGATGGCTCCATCATCGAAACGCCAATCACCGCGAACTTCCGTGAAGGTCTGAACGTACTCCAGTa                                                                            <  1:422097/149‑1 (MQ=255)
                                                                               atgGCCGACTCCGGTGCGCGTGGTTCTGCGGCACAGATTCGTCAGCTTGCTGGTATGCGAGGTCTGATGGCGAAGCCGGATGGCTCCATCCTGGCGACGCCAATCACCGCGCACTTCCCTGAGGGCCTGCACGTACTCCAGTACttact                                                                      >  2:285650/1‑146 (MQ=255)
                                                                                 ggCCGCCTCCGGTCCGCGTGGTTCCGCTGCACGGATGCGTCTGCTTGCTGGTATGCGGGGTCTTATGGCGAAGCCTTATGGCTCCATCATCTAAACTTCATTCTCCGCGAACTTCCGTGAAGGTCTGAACGTACTCCAGTATTTCAtct                                                                    <  2:546389/149‑1 (MQ=255)
                                                                                                gggTGGTTCTGCTGCACAGATTCGTCAGCTTGCTGGTATGCGTGGTCTGATGGCCAAGCTGGATGGCTCCATCATCGAAACGCCAATCACCGCGAACTTTCGTGAAGGTCTGAACGTACTCCTGTACTTCATCTCCACCCACGGTGCTc                                                     <  2:573287/147‑1 (MQ=255)
                                                                                                gggTGGTTCGTCGGCCCAGATTCGTCAGGTTGCTGGTATGCGTGGTCTGATGGCGAAGCCGGATGGCTCCATCATCGAAACGCCAATCACCGCGAGCTTCCGTGAAGGTCTGAACGTACTCCAGTACTTCATCTCCACCCACGGTGCTc                                                     <  1:428943/147‑1 (MQ=255)
                                                                                                  gTGGTTCTGCGGCACAGATTCGTCAGCTTGCTGGTATGCGTGGTCTGATGGCGAAGCCGGATGGCTCCATCATCGAAACGCCAATCACCGCGAACTTCCGTGAAGGTCTGAACGTACTCCAGTACTTCATCTCCACCCACGGTGCTCGt                                                   >  1:99214/1‑149 (MQ=255)
                                                                                                        cTGGGGCACAGAGTCGTCAGCTTGCTGGTATGCGTGGTCTGATTGCGAAGCCGGATGGCTCCATCATCGAAACGCCAATCACCGCGAACTTCCGTGAAGGTCTGAACGTACTCCAGTACTTCATCTCCACCCACGGTGCTCGTAAAGGt                                             <  2:55123/149‑1 (MQ=255)
                                                                                                         tGCGGCACAGATTCGTCAGCTTGCTGGTATGCGTGGTCTGATGGCGAAGCCGGATGGCTCCATCATCGAAACGCCAATCACCGCGAACTTCCGTGAAGGTCTGAACGTACTCCAGTACTTCATCTCCACCCACGGTGCCCGTAAAGGTc                                            >  2:510793/1‑149 (MQ=255)
                                                                                                          tcGGCACAGATTCGTCCGCTTGCTGGTATGCGTGGGCTGATGGCGAAGCCGGATGGCTCCATCATCGAAACGCCAATCACCGCGAACTTCCGTGAAGGTCTGAACGTACTCCAGTACTTCATCTCCACCCACGGTGCTCGTAAAGGTCt                                           <  1:269679/148‑1 (MQ=255)
                                                                                                             gCACAGATTCGTCAGCTTGCTGGTATGCGTGGTCTGATCGCGAAGCCGGATGGCTCCATCATCGAAACGCCAATCACCGCGAACTTCCGTGAAGGTCTGAACGTAATCCAGTACTTCATCTCCACCAACGGTGCTCGTAAAGGTCTGGc                                        >  2:307030/1‑149 (MQ=255)
                                                                                                                     tCGGCAGCTTGGTGGTAAGCTTGGTCTGATGGCGAAGCCGGATGGCTCCACCATCGAAACGCCAATCAACGCGAACTTCCGGGAAGGTCTGAACGTACTCCAGTACTGCATCTCCACTCACGGTGCTCGTAAAGGTCTGGCGGATACCg                                <  2:398755/149‑1 (MQ=255)
                                                                                                                       gTCAGCTTGGTGGTATGCGTGGTCTGATGGCGAAGTCGGATGGCTCCATCATCGAAACGCCAATCACCGCGAACTTCCGTGAAGGTCTGAACGTAATCCACTACTTCATATCCAACAACGGCGCTCGTAACGGTCTCGCGGATatctgg                              <  2:225323/149‑6 (MQ=255)
                                                                                                                       gTCAGCTTGCTGGTATGCGTGGTCTGATTGCGAAGCCGGATGGCTCCATCATCGAAACGCCAATCACCGCGAACTTCCGTGAAGGTCTGAACGTACTCCAGTACTTCATCTCCACCCACGGTGCTCGTAAAGGTCTGGCGGATACCGCa                              <  2:628754/149‑1 (MQ=255)
                                                                                                                       gTCAGCTTGCTGGTATGCGTGGTCTGATGGCGAAGCCGGATGGCTCCATCATCGAAACGCCAATCACCGCGAACTTCCGTGAAGGTCTGAACGTACTCCAGTACTTCATCGCCACCCACGGTGCTCGTAAAGTTCTGGCGGATACCGCa                              >  1:300434/1‑149 (MQ=255)
                                                                                                                          aGCTTGCTGGTATGCGTGATCTGATGGCGAAGCCGGATGCCTCCATCTTCGAAACGCCAATCACCGCGAACTTCCGTGAAGGTCTGAACGTACTCCAGTACTTCATCTCCACCCACGGTGCTCTTAAAGGTCTGGCGGATACCGCACTg                           <  1:500347/149‑1 (MQ=255)
                                                                                                                                  ggTATGCGTGGTCTGATGGCGAAGCCGGATGGCTCCATCATCGAAACGCCAATCACCGCGAACTTCCGTGAAGGTCTGAACGTACTCCAGTACTTCATCTCCACCCACGGTGCTCGTAAAGGTCTGGCGGATACCGCACTGAAAACTGc                   <  1:496979/149‑1 (MQ=255)
                                                                                                                                    tATGCGTGGTCTGATGGCGAAGCCGGATGGCTCCATCATCGAAACGCCAATCACCGCGAACTTCCGTGAAGGTCTGAACGTACTCCAGTACTTCATCTCCACCCACGGTGCTCGTAAAGGTCTGGCGGATACCGCACTGAAAACTGCGa                 >  1:640681/1‑149 (MQ=255)
                                                                                                                                      tGCGTGGTCTGATGGCGAAGCCGGATGGCTCCATCATCGAAACGCCAATCACCGCGAACTTCCGTGAAGGTCTGAACGTACTCCAGTACTTCATCTCCACCCACGGTGCTCGTAAAGGTCTGGCGGATACCGCACTGAAAACTGCGAAc               >  1:50534/1‑149 (MQ=255)
                                                                                                                                           gcgcTGATGGCTAAGCCGGATGGCTCCATCATCGAAACGCCAATCACCGCGAACTTCCGTGAAGGTCTGAACGTACTCCAGTACTTTATCTCCACCCACGGTGCTCGTAAAGGTCTGGCGGATACCGCACTGAAAACTGCGAACTCCgg          <  2:492137/146‑1 (MQ=255)
                                                                                                                                               tGATTGCGAAGCCGGATGGCTCCATCATCGAAACGCCAATCACCGCGAACTTCCGTGAAGGTCTGAACGTACTCCAGTACTTCATCTCCACCCACGGTGCTCGTCACGGTCTGGCGGATGCCGCACTGAAAACTGCGAACTCCGGTTAc      >  1:285824/1‑149 (MQ=255)
                                                                                                                                                gATGGCGAAGCCGGATGGCTCCATCATCGAAACGCCAATCACCGCGAACTTCCGTGAAGGTCTGAACGTACTCCAGTACTTCATCTCCACCCACGGTGCTCGTAAAGGTCTGGCGGATACCGCACTGAAAACTGCGAACTCCGGTTAcc     >  1:72444/1‑149 (MQ=255)
                                                                                                                                                gATGGCGAAGCCGGATGGCTCCATCATCGAAACGCCAATCACCGCGAACTTCCGTGAAGGTCTGAACGTACTCCAGTACTTCATCTCCACCCACGGTGCCCGTAAAGGTCTCGCGGATACCGCCCTCAACCCTGCGAACACCGCTTccc     >  2:420804/1‑149 (MQ=255)
                                                                                                                                                 aTGGCGAAGCCGTATGGCTCCATCATCGAAACGCCAATCACCGCGAACTTCCGAGAAGGACTGAAATTACTCCGTTACTTCATCTCCACCCACGGTGCTCGTAAAGGTCTGGCGGATACCGCACTGAAAACTGCGAACTCCGGTTACCt    <  2:566841/149‑1 (MQ=255)
                                                                                                                                                 aTGGCGAAGCCGGATGGCTCCATCATCGAAACGCCAATCACCGCGAACTTCCGTGAAGGTCTGAACGTACTCCAGTACTTCATCTCCACCCACGGTGCTCGTAAAGGTCTGGCGGATACCGCACTGAAAACTGCGAACTCCGGTTACCt    >  1:612411/1‑149 (MQ=255)
                                                                                                                                                   ggCGAAGCCGGATGGCTCCATCAGCGAAACGCCAATCACCGCGAACCTCCGTGAAGGTCTGAACGTACTCCAGTACTTCATCTCCACCCACGGTGCTCGTAAAGGTCTGGCGGATACCGCACTGAAAACTGCGAACTCCGGTTACCTGa  <  2:195603/149‑1 (MQ=255)
                                                                                                                                                   |                                                                                                                                                    
GGATAACCTGCAAACTGAAACCGTGATTAACCGTGACGGTCAGGAAGAGAAGCAGGTTTCCTTCAACAGCATCTACATGATGGCCGACTCCGGTGCGCGTGGTTCTGCGGCACAGATTCGTCAGCTTGCTGGTATGCGTGGTCTGATGGCGAAGCCGGATGGCTCCATCATCGAAACGCCAATCACCGCGAACTTCCGTGAAGGTCTGAACGTACTCCAGTACTTCATCTCCACCCACGGTGCTCGTAAAGGTCTGGCGGATACCGCACTGAAAACTGCGAACTCCGGTTACCTGA  >  NC_000913_3_hsa_tpiA/4187425‑4187720

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: ‑