Predicted mutation
evidence seq id position mutation annotation gene description
RA NC_000913_3_hsa_tpiA 4,111,662 G→A L179L (CTG→TTG)  yiiQ ← DUF1454 family putative periplasmic protein

Read alignment evidence...
  seq id position ref new freq score (cons/poly) reads annotation genes product
*NC_000913_3_hsa_tpiA4,111,6620GA98.0% 165.6 / ‑4.2 52L179L (CTG→TTG) yiiQDUF1454 family putative periplasmic protein
Reads supporting (aligned to +/- strand):  ref base G (1/0);  new base A (31/19);  total (33/19)
Fisher's exact test for biased strand distribution p-value = 1.00e+00
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.25e-01

AGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAGCCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAATAACGTTTGTTTTTCCCCGCCGTTAGTAGCGACTGCAGTTTTTTCTGGCTTTGTGT‑TTTGGTCATTAATGGGGTGAGTGTGCGGATCA  >  NC_000913_3_hsa_tpiA/4111523‑4111808
                                                                                                                                           |                                                                                                                                                   
aGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCg                                                                                                                                           >  3:231874/1‑150 (MQ=255)
  aTGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGcc                                                                                                                                         <  2:410661/150‑1 (MQ=255)
   tGGCCGCCCCGCAGGGCAGCAGTTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCg                                                                                                                                        <  1:598184/150‑1 (MQ=255)
       cgccCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTCGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGt                                                                                                                                    >  2:242292/1‑150 (MQ=255)
          cccGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCcg                                                                                                                                 >  2:264648/1‑150 (MQ=255)
            cGCAGGGAAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCcgcg                                                                                                                               >  2:634996/1‑150 (MQ=255)
                         gTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCa                                                                                                                  >  4:55666/1‑150 (MQ=255)
                         gTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCa                                                                                                                  >  2:464414/1‑150 (MQ=255)
                          tCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAg                                                                                                                 <  4:335195/150‑1 (MQ=255)
                           cTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGt                                                                                                                <  4:11454/150‑1 (MQ=255)
                           cTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGt                                                                                                                >  3:48430/1‑150 (MQ=255)
                              tgAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCACCCCCTTTTCGCCGTTGTCCGCGACACCATATCGCAGGGct                                                                                                             >  2:282818/1‑149 (MQ=255)
                               gAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCAc                                                                                                            <  2:475499/150‑1 (MQ=255)
                                           agagTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTTTTCATTCCTTCATGCGATTCAGCTAGCGCCAGCTTAATCGGCTCAACACCGAAGGTCTACCCCTTTTCGCCGTTCTCCGCTACAACATAACGCAGTGCACCTTCTGTCTCgg                                                                                                <  2:294084/150‑1 (MQ=255)
                                             aTTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGgtg                                                                                              >  3:118681/1‑150 (MQ=255)
                                                 aTCGGCACAAAGGCTTTGCTTTTTGTCTTTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGtaat                                                                                          >  2:318628/1‑150 (MQ=255)
                                                     gCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGACGGTCAAACCCTTTAAGCAGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAATAACg                                                                                      >  3:205054/1‑150 (MQ=255)
                                                         aaaGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGt                                                                                                                                    >  4:354017/1‑100 (MQ=255)
                                                         aaaGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGt                                                                                                                                    <  3:354017/100‑1 (MQ=255)
                                                         aaaGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAATAACgtttg                                                                                  >  1:148068/1‑150 (MQ=255)
                                                          aaGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAATAACgtttgt                                                                                 <  1:19697/150‑1 (MQ=255)
                                                            ggCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAATAACgtttgttt                                                                               >  1:466822/1‑150 (MQ=255)
                                                              ctttgctttTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAATAACGTTTGttttt                                                                             <  1:602451/150‑1 (MQ=255)
                                                               tttgctttTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAATAACGTTTGTTTTTc                                                                            >  1:68147/1‑150 (MQ=255)
                                                               tttgctttTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAATAACGTTTGTTTTTc                                                                            <  1:374912/150‑1 (MQ=255)
                                                                   ctttTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAATAACGTTTGTTTTTCCccg                                                                        >  1:291097/1‑150 (MQ=255)
                                                                     ttttGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAATAACGTTTGTTTTTCCccgcc                                                                      <  1:284451/150‑1 (MQ=255)
                                                                         gTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAATAACGTTTGTTTTTCCCCGCCGTta                                                                  <  1:287949/150‑1 (MQ=255)
                                                                            aTTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACACAGTGCACCTTCTGTCCCGGTGCAATAACGTTTCCTGTTCCCCGCCGTtagtc                                                               >  4:196213/1‑149 (MQ=255)
                                                                                aTTCCAACCTTCAAGCGATTAAGATTGCTCTAGCTTAAGCGGTACCACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACCGCATAACGCCGTGCACCTTCTGTCTCGGGGTAATAACGTTTGTTTTTCCCCGCCGTTAGTAGCGa                                                           >  4:398766/1‑150 (MQ=255)
                                                                                 ttCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAATAACGTTTGTTTTTCCCCGCCGTTAGTAGCGAc                                                          >  2:615022/1‑150 (MQ=255)
                                                                                  tCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAATAACGTTTGTTTTTCCCCGCCGTTAGTAGCGACt                                                         >  1:326066/1‑150 (MQ=255)
                                                                                       cgtgcAAGCGCGTCGGATTGCGCCGGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGGTCGAGACAGCATAACGCAGTGCACCTTCTGTCTCGGTGTAATAACGTTTGTTTTTCCCCGCCGTTAGTAGTGACTGCAGt                                                    <  2:20657/146‑1 (MQ=255)
                                                                                         ttCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTACTAACGTTTGTTTTTCCCCGCCGTTAGTAGCGACTGCAGtgt                                                  >  4:316828/1‑148 (MQ=255)
                                                                                          tCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAATAACGTTTGTTTTTCCCCGCCGTTAGTAGCGACTGCAGtttt                                                 >  1:204363/1‑150 (MQ=255)
                                                                                          tCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAATAACATTTGTTTTTCCCCGCCGTTAGTAGCGACTGCAGtttt                                                 >  1:358100/1‑150 (MQ=255)
                                                                                              gCGATTCAGATAGTGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAATAACGTTTGTTTTTCCCCGCCGTTAGTAGCGACTGCAGTTTTTTCt                                             <  1:520441/150‑1 (MQ=255)
                                                                                              gCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAATAACGTTTGTTTTTCCCCGCCGTTAGTAGCGACTGCAGTTTTTTCt                                             <  3:192145/150‑1 (MQ=255)
                                                                                               cGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAATAACGTTTGTTTTTCCCCGCCGTTAGTAGCGACTGCAGTTTTTTCTg                                            >  1:571348/1‑150 (MQ=255)
                                                                                                         aGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAATAACGTTTGTTTTTCCCCGCCGTTAGTAGCGACTGCAGTTTTTTCTGGCTTTGTGt‑t                                 >  2:93095/1‑150 (MQ=255)
                                                                                                           cgcCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAATAACGTTTGTTTTTCCCCGCCGTTAGTAGCGACTGCAGTTTTTTCTGGCTTTGTGt‑ttt                               <  1:464414/150‑1 (MQ=255)
                                                                                                            gcCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAATAACGTTTGTTTTTCCCCGCCGTTAGTAGCGACTGCAGTTTTTTCTGGCTTTGTGT‑TTTg                              >  2:373198/1‑150 (MQ=255)
                                                                                                            gcCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGGCTCGGTGTAATAACGTTTGTTTTTCCCCGCCGTTAGTAGCGACTGCAGTTTTTTCTGGCTTTGTGT‑TTTg                              <  3:47247/150‑1 (MQ=255)
                                                                                                              caatttAATCGGTTCCACTGCGACGGTCCATCTTTTTTCCCCTCTGTCTTCAACAACATCTCGCAGTTCTCCTTCTGTCTCGGTGTTATAACGTTTGTTTTTCCCCGCCGTTAGTAGCGACGGCAGTTTTTTCTGGCTTTGTGTGTTTgg                             <  2:226793/146‑1 (MQ=255)
                                                                                                                gCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAATAACGTTTGTTTTTCCCCGCCGTTAGTAGCGACTGCAGTTTTTTCTGGCTTTGTGT‑TTTGGTCa                          >  3:16320/1‑150 (MQ=255)
                                                                                                                             aaCAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAATAACGTTTGTTTTTCCCCGCCGTTAGTAGCGACTGCAGTTTTTTCTGGCTTTGTGT‑TTTGGTCATTAATGGGGTGAg             >  2:586117/1‑150 (MQ=255)
                                                                                                                              aCAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAATAACGTTTGTTTTTCCCCGCCGTTAGTAGCGACTGCAGTTTTTTCTGGCTTTGTGT‑TTTGGTCATTAATGGGGTGAgt            >  3:59180/1‑150 (MQ=255)
                                                                                                                              aCAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAATAACGTTTGTTTTTCCCCGCCGTTAGTAGCGACTGCAGTTTTTTCTGGCTTTGTGT‑TTTGGTCATTAATGGGGTGAgt            >  1:345363/1‑150 (MQ=255)
                                                                                                                              aCAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAATAACGTTTGTTTTTCCCCGCCGTTAGTAGCGACTGCAGTTTTTTCTGGCTTTGTGT‑TTTGGTCATTAATGGGGTGAgt            >  1:198838/1‑150 (MQ=255)
                                                                                                                                       gTCAGCCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAATAACGTTTGTTTTTCCCCGCCGTTAGTAGCGACTGCAGTTTTTTCTGGCTTTGTGT‑TTTGGTCATTCATGGGGTGAGTGTGCGGATc   >  2:137282/1‑150 (MQ=255)
                                                                                                                                        tCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAATAACGTTTGTTTTTCCCCGCCGTTAGTAGCGACTGCAGTTTTTTCTGGCTTTGTGT‑TTTGGTCATTAATGGGGTGAGTGTGCGGATCa  <  4:220820/150‑1 (MQ=255)
                                                                                                                                        tCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAATAACGTTTGTTTTTCCCCGCCGTTAGTAGCGACTGCAGTTTTTTCTGGCTTTGTGT‑TTTGGTCATTAATGGGGTGAGTGTGCGGATCa  >  1:438353/1‑150 (MQ=255)
                                                                                                                                           |                                                                                                                                                   
AGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAGCCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAATAACGTTTGTTTTTCCCCGCCGTTAGTAGCGACTGCAGTTTTTTCTGGCTTTGTGT‑TTTGGTCATTAATGGGGTGAGTGTGCGGATCA  >  NC_000913_3_hsa_tpiA/4111523‑4111808

Alignment Legend
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 22 ≤ ATCG/ATCG < 37 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG
Unaligned base: atcg    Masked matching base: atcg    Alignment gap: ‑    Deleted base: ‑