Predicted mutation
evidence seq id position mutation freq annotation gene description
RA NC_000913_3_hsa_tpiA 1,108,708 A→T 15.4% Y78* (TAT→TAA)  opgC ← OPG biosynthetic transmembrane succinyltransferase

Read alignment evidence...
  seq id position ref new freq score (cons/poly) reads annotation genes product
*NC_000913_3_hsa_tpiA1,108,7080AT15.4% 89.7 / 2.2 45Y78* (TAT→TAA) opgCOPG biosynthetic transmembrane succinyltransferase
Reads supporting (aligned to +/- strand):  ref base A (17/19);  new base T (4/3);  total (22/23)
Fisher's exact test for biased strand distribution p-value = 6.98e-01
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 1.00e+00

TGTCATACAATGACAGCCCAGGCCAACTTTCCGCTTTTCCTTTGACATATTGCAGCATAATAAATTGCGGTAATGTCAGTAGGGGGATGGCTGTTAACATCGGGATACCTACACGTTCGACACGTACTTTCCACCATTTTTTCAAGGGATAGCGTAAAAAAAGCAT‑GTAGGAAAAGTAGCCGGATATAACGAAAAATACCTGCATGCGGAACGAGTGGATGAAGTCATTAAAAAGGGTCAGCCACAATGATGATTCGGCGCTATTCACATGCCATGTATGGCTCGAATAGA  >  NC_000913_3_hsa_tpiA/1108560‑1108850
                                                                                                                                                    |                                                                                                                                               
tGTCACACAATGACAGCCCAGGCCAACTTTCCGCTTTCCCTTCCACATATTGCAGCATAATAAATTGCGGTAATGTCAGTAGCGGGATGGCTGTTAACATCGGGATCCCTACACCTTCGACACGTACTTTCCACCATTTTTTCAAGGGa                                                                                                                                                 <  2:311071/149‑1 (MQ=255)
        aaTGACAGCCCAGGCCAACTTTCCGCTTTTCCTTTGACATATTGCAGCATAATAAATGGCGGTAACGTCTGTAGGGGGATGGCTGTTAACATCGGGATACCTACACGATCGACACGTACTTTCGACCATTTTTTCAAGGGATAGCGCaa                                                                                                                                         >  1:428180/1‑149 (MQ=255)
              aGCCCATGCCAACTTTCCGCTTTTCCTTTGACATGTTGCAGCATAATAAATTGCGTTAATGTCAGTAGGGGGATGGTTGTTAACATCGGGATACCTACACGTTCGACACGTACTTTCCACCATTTTTTCAAGGGATAGCGTAAAAAAAg                                                                                                                                   <  1:547881/149‑1 (MQ=255)
                  cAGGCCAACTTTCCGCTTTTCCTTTGACATATTGCAGCATAATAAATTGCGGTAATGTCAGTAGGGGGATGGCTGTTAACATCGGGATACCTACACGTTCGACACGTACTTTCCACCATTTTTTCAAGGTGTAGCGTCACAAAAGCAT‑g                                                                                                                              >  2:611394/1‑149 (MQ=255)
                    ggCAAACTTGCCGCTTTTCCTTTGACATATTGCATCATAATAAATTGCGGTAATGTCAGTAGGGGGATGGCTGTTAACATCGGGATACCTACACGTTCGACACGTACTTTCCACCATTTTTTCAAGGGATAGCGTAAAAAAAGCAT‑GTa                                                                                                                            <  1:320649/149‑1 (MQ=255)
                      ccAACTTTCCGCTTTTCCTTTGACATATTGCAGCATAATAAATTGCGGTAATGTCAGTAGGGGGATGGCTGTTAACATCGGGATACCTACACGTTCGACACGTACTTTCCACCATTTTTTCAAGGGATAGCATAAAAAAAGCAT‑GTAgg                                                                                                                          >  1:214077/1‑149 (MQ=255)
                       cAACTTTCCGCTTTTCCTTTGACATATTGCAGCATAATAAATTGCGGTAATGTCAGTAGGGGGATGGCTGTTAACATCGGGATACCTACACGTTCGACACGTACTTTCCACCATTTTTTCAAGGGATAGCGTAAAAAAAGCAT‑GTAGGa                                                                                                                         >  2:89077/1‑149 (MQ=255)
                        aaCTTTACGCTTTTCCTTCGACATATTGAAGCATAATAAAATGCGGTAATGTCAGTAGGGGGATGGCTGTTAACATCGGGATACCTACACGTTCGACACGTACCTTCCACCATTTTTTCAAGGGATAGCGTAAAAAAAGCAT‑Gttcaat                                                                                                                        <  2:36153/149‑6 (MQ=255)
                               cGCTTTTCCTTTGACATATTGCAGCATAATAAATTGCGGTAATGTCAGTAGGGGGATAGCTGTTAAGATCGGGATACATACACGTTCGACAAGTACTTTGCAACATTTTTTTAAGGGATAGCGTAAAAAAAGGAT‑GTGGTGCAAGTAGc                                                                                                                 >  2:113484/1‑149 (MQ=255)
                                       cTTTGACATATTGCAGCATAATAAATTGCGGTAATGTCAGTAGGGGGATGGCTGTTAACATCGGGATACCTACACGTTCGACACGTACTTTCCACCATTTTTTCAAGGGATAGCGTAAAAAAAGCAT‑GTAGGAAAAGTAGCCAGatatc                                                                                                         >  2:368582/1‑148 (MQ=255)
                                         tagACATAATGCAGCATAATAAATTGCGGTAATGTCAGTAGGGGGATGGCTGTTAACATCGGGATACCTACACGTTCGACACGTACTTTCCACCATTTTTTCAAGGGATAGCGTAAAAAAAGCAT‑GTAGGAAAAGTAGCCGGATATAAc                                                                                                       <  1:185396/147‑1 (MQ=255)
                                                 ttGCAGCATAATAAATTGCGGTAATGTCAGTAGGGGGATGGCTGTTAACATCGGGATACCTACACGTTCGACACGTACTTTCCACCATTTTTTCAAGGGATAGCGTAAAAAAAGCAT‑GTAGGAAAAGTAGCCGGATATACCGAAAAATa                                                                                               >  1:482822/1‑149 (MQ=255)
                                                 ttGCAGCATAATAAATTGCGGTAATGTCAGTAGGGGGATGGCTGTTAACATCGGGATACCTACACGTTCGACACGTACTTTCCACCATTTTTTCAAGGGATAGCGTAAAAAAAGCAT‑GTAGGAAAAGTAGCCGGATAAAACGAAAAATa                                                                                               >  1:160097/1‑149 (MQ=255)
                                                  tGCAGCATAATAAATTGCGGTAATGTCAGTAGGGGGATGGCTGTTAACATCGGGAGACCTACACGTTCGACACGTACTTTCCACCATGTTTTCAAGGGATAGCGTAAAAAAAGCAT‑GTAGGAAAAGTAGCCGGATATAACGAAAAATAc                                                                                              <  1:489700/149‑1 (MQ=255)
                                                     agcaTAATAAATTGCGGTAATGTCAGTAGGGGGATGGCTGTTAACATCGGGATACCTACACGTTCGACACGTACTTTCCACCATTTTTTCACTGTATAGC‑TTAAAAAAGCGTCGTAGAAAAAGAGACTGTATTTAACCAAGAATACCTg                                                                                           >  2:359347/1‑149 (MQ=255)
                                                     agcaTAATAAATTGCGGTAATGTCAGTAGGGGGATGGCTGTTAACATCGGGATACCTACACGTTCGACACATACTTTCCACCATTTTTTCAAGGGATAGCGTAAAAAAAGCAT‑GTAGGAAAAGTAGCCGGATATAACGAAAAATACCTg                                                                                           >  1:455372/1‑149 (MQ=255)
                                                               agagCGGGAAAGTCAGTAGGGGAATGAAAATTAAGAACGGGATACCGAAACGGAAGAGACGGACTTACCACCACGTTTCCAAGCGATAGCGTGAAAAAAGGAT‑GCAGGAAAAGTATAAAAAAAAAAAAAAAAATACCTGCATGCGGAAc                                                                                 <  2:51715/146‑1 (MQ=255)
                                                               aTTGCGGTAATGTCAGTAGGGGGATGGCTGTTAACATCGGGATACCTACACGTTCGACACGTACTTTCCACCATTTTTTCAAGGGATAGCGTAAAAAAAGCAT‑GTAGGAAAAGTAGCCGGATATAACGAAAAATACCTGCATGCGGAAc                                                                                 <  1:192070/149‑1 (MQ=255)
                                                               aTTGCGGTAATGTCAGTAGGGGGATGGCTGTTAACATCGGGATACCTACACGTTCGACACGTACTTTCCACCATTTTTTCAAGGGATAGCGTAAAAAAAGCAT‑GTAGGAAAAGTAGCCGGATATAACGAAAAATACCTGCATGCGAAAc                                                                                 >  1:464787/1‑149 (MQ=255)
                                                                   cGGTAATGTCAGTAGCGGCATGGCTGTTAACATCGGGATACCTAAACGTCCGACACCTACTTTCCACCATTTTTTCAAGGGATACCGTAAAAAAAGCCT‑GTAGGAAAAGTACCCGGATATACCGACAAATACATGCATGCGGacctggt                                                                             >  2:226763/1‑143 (MQ=255)
                                                                          ttcaggcgggggATGGCTTTTTACTGCGGGATACCTACACGTCCGACACGTACTTTCCACCATTTTTTCAAGGGATCTCAGAAAAAAAGCAT‑GTAGGAAAAGTAGCCGGATATAACGAAAAATCCCTGCATGCGGAACGTGTGGATGaa                                                                      <  2:117006/142‑1 (MQ=255)
                                                                           tCAGTAGGGGGATGGCTGTTAACATCGGGATACCTACACGTTCGACACGTACTGTCCACCATTTTTTCAAGGGTTAGCGTAAAAAAAGCAT‑GTAGGAAAAGTAGCTGGATATAACGAAAAATACCTGCATCAGAGACGAGTGGCAGAAg                                                                     >  2:267247/1‑149 (MQ=255)
                                                                                       tGGCTGTTAACATCGGGATACCTACACGTTCGACTCGTACTTTCCACCATTTTTTCAAGGGATCGCGTAAAAAAAGCAT‑GTTGGATAAGTAGCCGGATATAACGAAAAATACCTGCATGCGGAACGAGTGGATGAAGTCATTAAAAAgg                                                         <  1:548961/149‑1 (MQ=255)
                                                                                       tGGCTGTTAACATCGGGATACCTACACGTTCGACACGTACTTTCCACCATTTTTTCAAGGGTTAGCGTTATAATAGCAT‑GTAGGAAAAGTAGCCGGATATAACGAAAAATACCTGCATGCGGAACGAGTGGATGAAGTCATTAAAAAgg                                                         <  1:357572/149‑1 (MQ=255)
                                                                                       tGGCTGTTAACATCGGGATACCTACACGTTCGACACGTACTTACCACCATTTTTTAAAGGGATAGCGTAAAAAAAGCAA‑GAAGGAAAAGTAGCCGGATATAAAGAGAAATACCAGCATACGGAACGAGTGGATGAAAGCATTAAAAAgg                                                         >  2:275691/1‑149 (MQ=255)
                                                                                        ggCTGTTAACATCGGGATACCTACACGTTAGACACGTACTTTCCACCATTTTTTCAAGGGATAGCGTAAAAAAAGCAT‑GTAGGAAAAGTAGCCGGATATAACGAAAAATACCTGCATGCGGAACGAGTGGATGAAGTCATTAAAAAggg                                                        <  2:51793/149‑1 (MQ=255)
                                                                                           tGTTAACATCGGGATACCTACACGTTCGACACGTACTTTCCACCATTTTTTCAAGGGTTAGCGTAAAAAAAGCAT‑GTAGGAAAAGTAGCCGGATATAACGAAAAATACCTGCATGCGGAACGAGTGGATGAAGTCATTAAAAAGGGTCa                                                     <  1:584813/149‑1 (MQ=255)
                                                                                                 cATCGGGATACCTACACGTTCGACACGTACTTTCCACCATTTTTTTTTTTTTTTTTCTAAAAAAAGAAT‑GTAGTCAAATTAACCGTCTATAACGAAAATTACCAGCATGCGGAACGATGGGATAAAGTCATTAACAAGGGTCACCcaca                                               >  2:608467/1‑149 (MQ=255)
                                                                                                 cATCGGGATACCTACACGTTCGACACGTACTTTCCACCATTTTTTCAAGGGATAGCGTAAAAAAAGCAT‑GTAGGAAAAGTAGCCGGATATAACGAAAAATACCTGCATGCGGAACGAGTGGATGAAGTCATTAAAAAGGGTCAGCcaca                                               >  1:242453/1‑149 (MQ=255)
                                                                                                  agcGGGATACCCACACGTTGGACACTTACTTGCAAGCAGTGTTTGAAGTGTTATCGTAAAAAAAGCAT‑GTAGGAAAAGTAGCCGGATATAACGAAAAATACCTGCATGCGGAACGAGTTGATGAAGTCATTAAAAAGGGTCAGCCACaa                                              <  2:208841/147‑1 (MQ=255)
                                                                                                  aTCGGGATACCTACACGTTCGACACGTACTTTCCACCATTTTTTTTTTTTTTTTCGTAAAAAAAGCAT‑GTAGGAAAAGTAGCCGGATATTACGAAAAATACCTGCATGCGCAACGAGTGGATGAAGTCATTAAAAAGGGTCAGCCACaa                                              >  2:218778/1‑149 (MQ=255)
                                                                                                   ttgggATACCTTCACGTTCGACACGTACTTTCCACCATTTTTTCAAGGGATAGCGTAAAAAAAGCAT‑GTAGGAAAAGTAGCCGGATATAACGAAAAATACCTGCATGCGGAACGAGTGGATGAAGTCATTAAAAAGGGTCAGCCACAat                                             <  2:260795/147‑1 (MQ=255)
                                                                                                     aggATATCTACAAGTTAGAAAAATACATAACAACAGTTTTTCAAGGGATAGAGTAAAAAAAGCAT‑GAAGGAAAAGTAGCCGGAAAAAACGAAAAATACCTGCATGCGGAACGAGTGGAAAAAAAAAAAAAAAAGGGTCAGCCACAatga                                           <  2:571348/148‑1 (MQ=255)
                                                                                                      ggATACCTACACGTTCGACACGTACTTTCCACCATTTTTTCAAGGGATAGCGTAAAAAAAGCAT‑GTAGGAAAAGTAGCCGGATATAACGAAAAATACCTGCATGCGGAACGAGTGGATGAAGTCATTAAAAAGGGTCAGCCACAatgat                                          >  1:301726/1‑149 (MQ=255)
                                                                                                          aCCTACACGTGCGAAACGTAATTTCCACCATTTTTTCAAGGGATAGCGTAAAAAAAGCAT‑GTAGGAAAAGTAGCCGGATATAACGAAAAATACCTGCATGCGGAACGAGTGGATGAAGTCATTAAAAAGGGTCAGCCACAATGATGAtt                                      <  2:301726/149‑1 (MQ=255)
                                                                                                             tACACGTTCGACACGTACTTTCCACCATTTTTTCTATTGTTATCTTAAAAAAAACAA‑GTAAGAAAAGTCACCGGATATAACTGAAAATAACCGCATGCTGCACGAGTCGATACACTCACTAAACAAGTTCAGCCCCAACGCTGTTTCgg                                   >  2:269740/1‑149 (MQ=255)
                                                                                                                ctgttgaacacGTATCTTCCATCTGTTTGTCAAGGGAGATCGAAAAAAACGAAT‑GAAGGAAAAGTAGCCGTATATAACGAAAAATACCTGCTTGCGTAAGGAGTGGATGAAGTCATTAAAAAGGGTCAGCCATAATGATGATTCGgcgc                                <  2:427408/142‑1 (MQ=255)
                                                                                                                acGTTCGACACGTACTTTCCACCATTTTTTCAAGGGATAGCGTAAAAAAAGCAT‑GTAGGAAAAGTAGCCGGATATAACGAAAAATACCTGCATGCGGAACGAGTGGATGAAGTCATTAAAAAGGGTCAGCCACAATGATGATTCGgcgc                                >  1:49039/1‑149 (MQ=255)
                                                                                                                  gTTCGAAACTTACTGTCCGCCATTTGTTCAAGGGATAGCCGAAAAAACGCAG‑GTAGGAAAAGTAGCCGGATATAACGAACAATACCTGCATGCGGAACGATTGGACGAAGTCATTAAAAAGGGACAGCCACAATGATGATTCGGCGCTa                              <  1:467837/149‑1 (MQ=255)
                                                                                                                    tCGACACGTACTTTCCACCATTTTTTCAAGGGATAGCGTAAAAAAAGCAT‑GTAGGAAAAGTAGCCGGATATAACGAAAAATACCTGCATGCGGAACGAGTGGATGAAGTCATTAAAAAGGGTCAGCCACAATGATGATTCGGCGCTAtt                            <  1:525764/149‑1 (MQ=255)
                                                                                                                               tttCCACCATTTTTTCACGGGATAGCGT‑AAAAAAGCAT‑GTAGGAAAAGTAGCCGGATATCACCAAAAACAAGTGCATGCGGAACGAGTGGATAAAGTCATTAAAAAGGGTCAGCCACAATGAAGAATCGGCGCTATTCACATGCCagga                >  2:375894/1‑146 (MQ=255)
                                                                                                                                    accgTTTTTTGAATGGGTAGGGAAAAAAAAGCAT‑GTAGGAAAAGTAGCGGGATATAACGAAAAATAGCTGCATGCGGAACGAGTGGCTGAAGTCATTAAAAAGTGTCAGCCACAATGATGATTCGGCGCTATTCACACGCCATGTATgg            <  2:556701/149‑1 (MQ=255)
                                                                                                                                          ttttCAAGGGAAAGAAAAAAAAAAGCAT‑GTAGGAAAAGTAGCCGGATATAACGAAAAATACCTGCATGCGGAACGAGTGGATGAAGTCATTAAAAAGGGTCAGCCACAATGATGATTCGGCGCTATTCACATGCCATGTATGGCTCGaa      <  2:563910/149‑1 (MQ=255)
                                                                                                                                           tttCAAGGGATAGCGTAAAAAACGCAT‑GTAGGAAAAGTAGACGGATATAACGAAAAATACCTGCACGGGGAACGAGGGGATGAAGTCATTGAAAAGGGTCAGCCACACGGATAATACGTCGCTATTACCCTGGCATGTATGGCttaaat     >  2:533647/1‑144 (MQ=255)
                                                                                                                                              cAAGGGATAGGATAAAAAAAGCAT‑GTAGGAAAAGTAGCATGATATAACGAAAAATACCTGCATGCGGAACGAGTGGATGAAGTCATTAAAAAGGGTCAGCCACAATGATGATTCGGCGCTATTCACATGCCATGTATGGCTCGAATAGa  <  2:488409/149‑1 (MQ=255)
                                                                                                                                              cAAGGGATAGCGTAAAAAAGGTAA‑GTAGGAAAAGTAGCCGGATATAACGAAAAATACCTGCATGCGGAACGAGTGGATGAAGTCATTAAAAAGGGTCAGCCACAATGATGATTCGGCGCTATTCACATGCCATGTATGGCTCAAATAGa  <  2:434640/149‑1 (MQ=255)
                                                                                                                                                    |                                                                                                                                               
TGTCATACAATGACAGCCCAGGCCAACTTTCCGCTTTTCCTTTGACATATTGCAGCATAATAAATTGCGGTAATGTCAGTAGGGGGATGGCTGTTAACATCGGGATACCTACACGTTCGACACGTACTTTCCACCATTTTTTCAAGGGATAGCGTAAAAAAAGCAT‑GTAGGAAAAGTAGCCGGATATAACGAAAAATACCTGCATGCGGAACGAGTGGATGAAGTCATTAAAAAGGGTCAGCCACAATGATGATTCGGCGCTATTCACATGCCATGTATGGCTCGAATAGA  >  NC_000913_3_hsa_tpiA/1108560‑1108850

Alignment Legend
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 8 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 22 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG
Unaligned base: atcg    Masked matching base: atcg    Alignment gap: ‑    Deleted base: ‑