Predicted mutation
evidence seq id position mutation freq annotation gene description
RA Exported 2,919,332 T→C 19.2% S122G (AGC→GGC)  argI ← ornithine carbamoyltransferase 1

Read alignment evidence...
  seq id position ref new freq score (cons/poly) reads annotation genes product
*Exported2,919,3320TC19.2% 211.3 / 43.6 104S122G (AGC→GGC) argIornithine carbamoyltransferase 1
Reads supporting (aligned to +/- strand):  ref base T (38/46);  new base C (13/7);  total (51/53)
Fisher's exact test for biased strand distribution p-value = 1.39e-01
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.29e-01

Only 100 of 106 total aligned reads displayed.

ATGGTGAGAAGATCCGCCAGCAGCTGCGTGGGATGGAACTCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCG  >  Exported/2919262‑2919401
                                                                      |                                                                     
aTGGTGAGAAGATCCGCCAGCAGCTGCGTGGGATGGAACTCATTGGTCAGGCCATTCCATACCGGCACGCt                                                                       <  1:1884845/71‑1 (MQ=255)
  ggTGAGAAGATCCGCCAGCAGCTGCGTGGGATGGAACTCATTGGTCAGGCCATTCCATACCGGCACGCTAg                                                                     >  1:4734366/1‑71 (MQ=255)
   gTGAGAAGATCCGCCAGCAGCTGCGTGGGATGGAACTCATTGGTCAGGCCATTCCATACCGGCACGCt                                                                       <  1:5235145/68‑1 (MQ=255)
      agaagaTCCGCCAGCAGCTGCGTGGGATGGAACTCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTa                                                                 >  1:3144281/1‑71 (MQ=255)
          gaTCCGCCAGCAGCTGCGTGGGATGGAACTCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTcc                                                             <  1:1094994/71‑1 (MQ=255)
          gaTCCGCCAGCAGCTGCGTGGGATGGAACTCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTcc                                                             <  1:492190/71‑1 (MQ=255)
             ccGCCAGCAGCTGCGTGGGATGGAACTCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGc                                                           >  1:1182776/1‑70 (MQ=255)
               gCCAGCAGCTGCGTGGGATGGAACTCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAg                                                        >  1:256341/1‑71 (MQ=255)
                ccAGCAGCTGCGTGGGATGGAACTCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAgt                                                       <  1:4649019/71‑1 (MQ=255)
                   gcagcTGCGTGGGATGGAACTCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAgtg                                                      >  1:4436788/1‑69 (MQ=255)
                      gcTGCGTGGGATGGAACTCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCg                                                 <  1:540105/71‑1 (MQ=255)
                          cGTGGGATGGAACTCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACaa                                             <  1:4943226/71‑1 (MQ=255)
                          cGTGGGATGGAACTCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACa                                              <  1:1013121/70‑1 (MQ=255)
                          cGTGGGATGGAACTCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACa                                              <  1:2351598/70‑1 (MQ=255)
                          cGTGGGATGGAACTCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACa                                              <  1:5410958/70‑1 (MQ=255)
                            tGGGATGGAACTCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAAtc                                           <  1:4858629/71‑1 (MQ=255)
                                aTGGAACTCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCt                                       <  1:773674/71‑1 (MQ=255)
                                 tGGAACTCATTGGTCAGGCCATTCCATACCGGCACGCTAGc                                                                    >  1:466979/1‑41 (MQ=255)
                                 tGGAACTCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCt                                       >  1:4717303/1‑70 (MQ=255)
                                 tGGAACTCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCt                                       >  1:2501416/1‑70 (MQ=255)
                                   gAACTCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGAc                                    >  1:1907166/1‑71 (MQ=255)
                                     aCTCATTGGTCAGGCCATTCCATACCTGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCa                                  <  1:58522/71‑1 (MQ=255)
                                      cTCGTTGGTCAGCCCGTTCCACACCGGCACGCCCGCATACTGCGCCAGCGTTTCGACCACTTCCTGGccgt                                 <  1:2124962/71‑3 (MQ=255)
                                      cTCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCAt                                 <  1:3328650/71‑1 (MQ=255)
                                      cTCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCAt                                 <  1:2992503/71‑1 (MQ=255)
                                      cTCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCAt                                 <  1:1589782/71‑1 (MQ=255)
                                       tCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCg                                                            <  1:4003715/43‑1 (MQ=255)
                                       tCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCg                                                            <  1:2920689/43‑1 (MQ=255)
                                       tCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGAc                                               >  1:212285/1‑56 (MQ=255)
                                        cATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAg                               >  1:1217205/1‑71 (MQ=255)
                                         aTTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAAtctc                                         >  1:4668015/1‑60 (MQ=255)
                                         aTTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGc                              >  1:5324878/1‑71 (MQ=255)
                                         aTTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGc                              >  1:5674693/1‑71 (MQ=255)
                                           tGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGa                                                >  1:1539121/1‑51 (MQ=255)
                                           tGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGa                                     >  1:3549004/1‑62 (MQ=255)
                                            ggTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAAtc                                           >  1:3257760/1‑55 (MQ=255)
                                            ggTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAAtc                                           >  1:1910597/1‑55 (MQ=255)
                                            ggTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAAtc                                           >  1:4569142/1‑55 (MQ=255)
                                            ggTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGa                                     >  1:3724808/1‑61 (MQ=255)
                                            ggTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGa                                     >  1:5145407/1‑61 (MQ=255)
                                             gTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCcgc                           <  1:4780463/70‑1 (MQ=255)
                                             gTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCcgc                           <  1:2973416/70‑1 (MQ=255)
                                             gTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCcgc                           <  1:2879803/70‑1 (MQ=255)
                                             gTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCcgc                           <  1:571441/70‑1 (MQ=255)
                                              tCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCa                                                         <  1:3460710/39‑1 (MQ=255)
                                              tCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCa                                                         <  1:2228256/39‑1 (MQ=255)
                                              tCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGa                         <  1:3589598/71‑1 (MQ=255)
                                              tCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGa                         <  1:1858072/71‑1 (MQ=255)
                                                aGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGAt                        <  1:3962260/70‑1 (MQ=255)
                                                 ggCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATa                                <  1:4341432/61‑1 (MQ=255)
                                                 ggCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGa                         <  1:1413791/68‑1 (MQ=255)
                                                 ggCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGa                         <  1:241723/68‑1 (MQ=255)
                                                  gCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCa                                  <  1:900757/58‑1 (MQ=255)
                                                  gCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACt                     <  1:1812446/71‑1 (MQ=255)
                                                   ccgttCCACACCGGCACGCCCGCATACTGCGCCAGCGTTTCGACCACTTCCTGGCCGTGACCGCGATACt                     >  1:306238/4‑70 (MQ=255)
                                                   ccgttCCACACCGGCACGCCCGCATACTGCGCCAGCGTTTCGACCACTTCCTGGCCGTGACCGCGATACt                     >  1:2042270/4‑70 (MQ=255)
                                                   ccgttCCACACCGGCACGCCCGCATACTGCGCCAGCGGTTCGACCACTTCCTGGCCGTGACCGCGATACTg                    <  1:4983946/68‑1 (MQ=255)
                                                   ccATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTg                    <  1:1675769/71‑1 (MQ=255)
                                                    cgttCCACACCGTCACGCCCGCATACTGCGCCAGCGTTTCGACCACTTCCTGGCCGTGACCGCGATACTg                    >  1:2836535/3‑70 (MQ=255)
                                                    cgttCCACACCGGCACGCCCGCATACTGCGCCAGCGTTTCGACCACTTCCTGGCCGTGACCGCGATACTGa                   <  1:475425/69‑1 (MQ=255)
                                                    cATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGa                   <  1:4742506/71‑1 (MQ=255)
                                                     gttCCACACCGGCACGCCCGCATACTGCGCCAGCGTATCGACCACTTCCTGGCCGTGACCGCGATACTg                    <  1:1508771/68‑1 (MQ=255)
                                                      ttCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGa                         <  1:3283864/63‑1 (MQ=255)
                                                       tCCACACCGGCACGCCCGCATACTGCGCCAGCGTTTCGACCACTTCCTGGCCGTGACCGCGATACTGAAtg                >  1:2279965/1‑70 (MQ=255)
                                                        ccATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACaa                                             >  1:3552184/1‑41 (MQ=255)
                                                        ccATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATAc               >  1:5014182/1‑71 (MQ=255)
                                                        ccATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATAc               >  1:2680694/1‑71 (MQ=255)
                                                        ccATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATAc               >  1:402945/1‑71 (MQ=255)
                                                        ccATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATAc               >  1:3929235/1‑71 (MQ=255)
                                                        ccACACCGGCACGCCCGCATACTGCGCCAGCGTTTCGACCACTTCCTGGCCGTGACCGCGATACTGAAtgc               >  1:3211553/1‑69 (MQ=255)
                                                         cATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATa                <  1:4792160/69‑1 (MQ=255)
                                                         cATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATAcc              >  1:5485464/1‑71 (MQ=255)
                                                          aTACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCcgcg                          <  1:4121044/58‑1 (MQ=255)
                                                          aTACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCg             <  1:2367806/71‑1 (MQ=255)
                                                          aTACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCg             <  1:1697541/71‑1 (MQ=255)
                                                           tACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGa                         <  1:4624778/58‑1 (MQ=255)
                                                            aCCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACaa                                             >  1:2500805/1‑37 (MQ=255)
                                                            aCCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAAt                                            >  1:157408/1‑38 (MQ=255)
                                                            aCCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGa                         >  1:4976226/1‑57 (MQ=255)
                                                            aCCGGCACGCCCGCATACTGCGCCAGCGTTTCGACCACTTCCTGGCCGTGACCGCGATACTGAATGCCGt            >  1:733439/1‑70 (MQ=255)
                                                            aCCGGCACGCCCGCATACTGCGCCAGCGTTTCGACCACTTCCTGGCCGTGACCGCGATACTGAATGCCGt            >  1:1745219/1‑70 (MQ=255)
                                                            aCCGGCACGCCCGCATACTGCGCCAGCGTTTCGACCACTTCCTGGCCGTGACCGCGATACTGAATGCCGTc           <  1:333869/71‑1 (MQ=255)
                                                            aCCGGCACGCCCGCATACTGCGCCAGCGTTTCGACCACTTCCTGGCCGTGACCGCGATACTGAATGCCGTc           <  1:4298337/71‑1 (MQ=255)
                                                             ccGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTc           <  1:3940701/70‑1 (MQ=255)
                                                             ccGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCa          >  1:4518782/1‑71 (MQ=255)
                                                             ccGGCACGCCCGCATACTGCGCCAGCGTTTCGACCACTTCCTGGCCGTGACCGCGATACTGAATGCCGTCa          >  1:2263157/1‑71 (MQ=255)
                                                               ggCACGCCCGCATACTGCGCCAGCGTTTCGACCACTTCCTGGCCGTGACCGCGATACTGAATGCCGTCATa        <  1:2234140/71‑1 (MQ=255)
                                                               ggCACGCCCGCATACTGCGCCAGCGTTTCGACCACTTCCTGGCCGTGACCGCGATACTGAATGCCGTCATa        >  1:4488857/1‑71 (MQ=255)
                                                               ggCACGCCCGCATACTGCGCCAGCGTTTCGACCACTTCCTGGCCGTGACCGCGATACTGAATGCCGTCATa        >  1:3176107/1‑71 (MQ=255)
                                                                gCACGCCCGCATACTGCGCCAGCGTTTCGACCACTTCCTGGCCGTGACCGCGATACTGAATGCCGTCATa        >  1:484841/1‑70 (MQ=255)
                                                                gCACGCCCGCATACTGCGCCAGCGTTTCGACCACTTCCTGGCCGTGACCGCGATACTGAATGCCGTCATa        >  1:5183585/1‑70 (MQ=255)
                                                                gCACGCCCGCATACTGCGCCAGCGTTTCGACCACTTCCTGGCCGTGACCGCGATACTGAATGCCGTCATa        >  1:269145/1‑70 (MQ=255)
                                                                 cACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACa      >  1:10161/1‑71 (MQ=255)
                                                                    gCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCt                                       >  1:1112475/1‑35 (MQ=255)
                                                                    gCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATa                       >  1:3112073/1‑51 (MQ=255)
                                                                    gCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGc   <  1:3089849/71‑1 (MQ=255)
                                                                     cTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGc   >  1:400834/1‑70 (MQ=255)
                                                                     cTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGc   >  1:78385/1‑70 (MQ=255)
                                                                     cTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCg  <  1:5055038/71‑1 (MQ=255)
                                                                     cTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCg  <  1:4496304/71‑1 (MQ=255)
                                                                      |                                                                     
ATGGTGAGAAGATCCGCCAGCAGCTGCGTGGGATGGAACTCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCG  >  Exported/2919262‑2919401

Alignment Legend
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 21 ≤ ATCG/ATCG < 32 ≤ ATCG/ATCG < 36 ≤ ATCG/ATCG
Unaligned base: atcg    Masked matching base: atcg    Alignment gap:     Deleted base: