Predicted mutation
evidence seq id position mutation annotation gene description
RA NC_000913_3_hsa_tpiA 4,111,482 G→T intergenic (+797/+115) cdh → / ← yiiQ CDP‑diacylglycerol phosphotidylhydrolase/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_tpiA4,111,4820GT98.1% 161.8 / NA 52intergenic (+797/+115)cdh/yiiQCDP‑diacylglycerol phosphotidylhydrolase/DUF1454 family putative periplasmic protein
Reads supporting (aligned to +/- strand):  ref base G (0/0);  major base T (24/27);  minor base C (0/1);  total (24/28)
Fisher's exact test for biased strand distribution p-value = 1.00e+00
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.93e-01

AAGTCGATATAGGCAGTAGGGGGAGCACAAACCACCTCGGTGTCGGCCGGCACCTTGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGGGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAG  >  NC_000913_3_hsa_tpiA/4111338‑4111625
                                                                                                                                                |                                                                                                                                               
aaGTCGATATAGGAAGTAGGGGGAGCACAAACCACCTCGGTGTCGGCCGGAACCTTGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTgcgc                                                                                                                                             >  1:962314/1‑149 (MQ=255)
     gATATAGGCAGTAGGGGGAGCACAAACCACCTCGGTGTCGGCCGGCACCTTGGCCGCGTTCAGAGCGCCGATGGACTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCAttt                                                                                                                                        >  2:34/1‑149 (MQ=255)
      atatAGGCAGTAGGGGGAGCACAAACCACCTCGGTGTCGGCCGGCACCTTGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCAtttt                                                                                                                                       >  1:513785/1‑149 (MQ=255)
        ataGGCAGTAGGGGGAGCACAAACCACCTCGGTGTCGGCCGGCACCTTGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTaa                                                                                                                                     <  1:345432/149‑1 (MQ=255)
         taGGCAGTAGGGGGAGCACAAACCACCTCGGTGTCGGCCGGCACCTTGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCCTCTTCCAGTTTCCCCCAACGAAGAACTCCCTGGAGTGCGCCATTTTAAt                                                                                                                                    >  2:777000/1‑149 (MQ=255)
            gCAGTAGGGGGAGCACAAACCACCTCGGTGTCGGCCGGCACCTTGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTAATtct                                                                                                                                 >  2:759554/1‑149 (MQ=255)
                    gggAGCACAAACCACCTCGGTGTCGGCCGGCACCTTGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGCtt                                                                                                                         <  1:683595/149‑1 (MQ=255)
                          acaAACCACCTCGGTGTCGGCCGGCACCTTGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGc                                                                                                                   <  1:919255/149‑1 (MQ=255)
                            aaaCCACCTCGGTGTCGGCCGGCACCTTGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGa                                                                                                                 >  2:1026621/1‑149 (MQ=255)
                                     cGGTGTCGGCCGGCACCTTGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGaa                                                                                                        <  2:774170/149‑1 (MQ=255)
                                       gtgtCGGCCGGCACCTTGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCACCCAACGAGGAACTTCCGGGAGTGGGCCATTTTAATTCTCCACGCTTATAAGCGAACAAAGGaaca                                                                                                      >  2:1004173/1‑147 (MQ=255)
                                        tgtCGGCCGGCACCTTGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGAt                                                                                                     <  2:513785/149‑1 (MQ=255)
                                             gccggcACCTTGGCCGCGTTCATAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGgccg                                                                                                <  2:21802/149‑1 (MQ=255)
                                                     cTTGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAg                                                                                        <  2:689373/149‑1 (MQ=255)
                                                       gggCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAggg                                                                                      <  1:593246/148‑1 (MQ=255)
                                                           cgcgTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGgcagc                                                                                  <  1:1026621/149‑1 (MQ=255)
                                                           cgcgTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTGCCGCCCGTTCATCTTCCAGTTTCCCCCAATGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGgcagc                                                                                  <  1:274968/149‑1 (MQ=255)
                                                            gcgTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGgcagca                                                                                 <  1:664103/149‑1 (MQ=255)
                                                             cgTTCAGACTGCCGATCACCTCCCCCAGACCCTACTTCCTCCCGTTCATCGTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGCGCGCCATTTTAATTCACCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGcagcag                                                                                <  1:102685/149‑1 (MQ=255)
                                                               ttCAGAGTCCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGt                                                                              <  2:1073517/149‑1 (MQ=255)
                                                                 cAGAGGGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCt                                                                            <  1:1105394/149‑1 (MQ=255)
                                                                    agTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCtgtg                                                                         <  2:466894/149‑1 (MQ=255)
                                                                         cGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACa                                                                    >  1:788640/1‑149 (MQ=255)
                                                                               gCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATag                                                              >  1:614398/1‑149 (MQ=255)
                                                                               gCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATag                                                              >  2:702372/1‑149 (MQ=255)
                                                                                cccccccACGCTCTGCTTCCGCCTGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCCGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATaga                                                             <  1:148672/147‑1 (MQ=255)
                                                                                 tCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGACCTTCCTGGAGTGCGCCATTTTAATTCCCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTCAAACAGTACagag                                                            >  2:193473/1‑149 (MQ=255)
                                                                                   ccccAGCCTCTGCTCCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGAt                                                          <  1:435757/149‑1 (MQ=255)
                                                                                   ccccAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTAAtt                                                                                                                                   <  1:505364/76‑1 (MQ=255)
                                                                                   ccccAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTAAtt                                                                                                                                   >  2:505364/1‑76 (MQ=255)
                                                                                   ccccAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATCAGCGACTAAAGGAAGATGTCCGCCCCGCACGGCAGCAGGTCTGTGAAACAGTATAGAGAt                                                          >  2:777509/1‑149 (MQ=255)
                                                                                       aGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCAt                                                      <  2:614398/149‑1 (MQ=255)
                                                                                         aCTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCg                                                    <  1:759554/149‑1 (MQ=255)
                                                                                                           cATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGgctttgcttt                                  >  2:790919/1‑149 (MQ=255)
                                                                                                            aTCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGGGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGt                                                                  >  2:926545/1‑116 (MQ=255)
                                                                                                            aTCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAAGAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGt                                                                  <  1:926545/116‑1 (MQ=255)
                                                                                                             tcctCCACTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCttttt                                <  2:83323/146‑1 (MQ=255)
                                                                                                              cTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTg                               >  2:802443/1‑149 (MQ=255)
                                                                                                                    gTTTCCCCGAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTAGAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGCCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCAttt                         <  1:772993/149‑1 (MQ=255)
                                                                                                                     tttCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTACTTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCGCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTCGCTTTTTGTCATTTa                        <  2:962314/149‑1 (MQ=255)
                                                                                                                         ccccAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCttttt                                <  1:1002346/137‑1 (MQ=255)
                                                                                                                         ccccAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCttttt                                >  2:1002346/1‑137 (MQ=255)
                                                                                                                         ccccAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCa                    >  2:25139/1‑149 (MQ=255)
                                                                                                                         ccccAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCa                    <  1:30506/149‑1 (MQ=255)
                                                                                                                           ccAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCaaa                  >  1:193451/1‑149 (MQ=255)
                                                                                                                            cAACGAAGAAATTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAAc                 >  1:1139215/1‑149 (MQ=255)
                                                                                                                             aaCGAAGAACTTCCTGGAGTGCGCCATTTTAATCCCCCACGCGTATAAGCGAATAAAGGAAGATGGCCGCCCCTCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCCTTGCTTTTTGTCATTTATTCGAAcg                >  2:619536/1‑148 (MQ=255)
                                                                                                                                ggagaaCTTGCTGGGGTGGGGCATTGTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTc             <  2:1131379/147‑1 (MQ=255)
                                                                                                                                      cTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGgctttg                                      >  2:47425/1‑118 (MQ=255)
                                                                                                                                      cTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGgctttg                                      <  1:47425/118‑1 (MQ=255)
                                                                                                                                       ttCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGAt      >  1:280231/1‑149 (MQ=255)
                                                                                                                                           tGGAGTGCGCCATTTTAATTCTCCACGCTTGTCGGGAAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTTAAACCTTCAAGCGATTCAg  >  2:255060/1‑149 (MQ=255)
                                                                                                                                                |                                                                                                                                               
AAGTCGATATAGGCAGTAGGGGGAGCACAAACCACCTCGGTGTCGGCCGGCACCTTGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGGGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAG  >  NC_000913_3_hsa_tpiA/4111338‑4111625

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: ‑