Predicted mutation
evidence seq id position mutation freq annotation gene description
RA Exported 2,919,359 T→C 22.4% I113V (ATT→GTT) ‡ argI ← ornithine carbamoyltransferase 1

Read alignment evidence...
  seq id position ref new freq score (cons/poly) reads annotation genes product
*Exported2,919,3590TC22.4% 243.8 / 70.1 134I113V (ATT→GTT) ‡argIornithine carbamoyltransferase 1
Reads supporting (aligned to +/- strand):  ref base T (56/48);  new base C (18/12);  total (74/60)
Fisher's exact test for biased strand distribution p-value = 6.78e-01
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.62e-01

Only 100 of 140 total aligned reads displayed.

TGGGATGGAACTCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAA  >  Exported/2919290‑2919427
                                                                     |                                                                    
tGGGATGGAACTCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAAtc                                                                     <  1:4858629/71‑1 (MQ=255)
    aTGGAACTCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCt                                                                 <  1:773674/71‑1 (MQ=255)
     tGGAACTCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCt                                                                 >  1:4717303/1‑70 (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)
            cATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAg                                                         >  1:1217205/1‑71 (MQ=255)
             aTTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGc                                                        >  1:5674693/1‑71 (MQ=255)
             aTTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGc                                                        >  1:5324878/1‑71 (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                                                     <  1:2879803/70‑1 (MQ=255)
                 gTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCcgc                                                     <  1:4780463/70‑1 (MQ=255)
                 gTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCcgc                                                     <  1:571441/70‑1 (MQ=255)
                  tCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGa                                                   <  1:3589598/71‑1 (MQ=255)
                    aGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGAt                                                  <  1:3962260/70‑1 (MQ=255)
                    aGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATa                                                 >  1:2758018/1‑71 (MQ=255)
                     ggCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGa                                                   <  1:241723/68‑1 (MQ=255)
                     ggCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGa                                                   <  1:1413791/68‑1 (MQ=255)
                      gCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACt                                               <  1:1812446/71‑1 (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)
                         gttCCACACCGGCACGCCCGCATACTGCGCCAGCGTATCGACCACTTCCTGGCCGTGACCGCGATACTg                                              <  1:1508771/68‑1 (MQ=255)
                           tCCACACCGGCACGCCCGCATACTGCGCCAGCGTTTCGACCACTTCCTGGCCGTGACCGCGATACTGAAtg                                          >  1:2279965/1‑70 (MQ=255)
                            ccATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATAc                                         >  1:5014182/1‑71 (MQ=255)
                            ccATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATAc                                         >  1:3929235/1‑71 (MQ=255)
                            ccATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATAc                                         >  1:402945/1‑71 (MQ=255)
                            ccACACCGGCACGCCCGCATACTGCGCCAGCGTTTCGACCACTTCCTGGCCGTGACCGCGATACTGAAtgc                                         >  1:3211553/1‑69 (MQ=255)
                             cATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATAcc                                        >  1:5485464/1‑71 (MQ=255)
                              aTACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCcgcg                                                    <  1:4121044/58‑1 (MQ=255)
                              aTACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCg                                       <  1:1697541/71‑1 (MQ=255)
                              aTACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCg                                       <  1:2367806/71‑1 (MQ=255)
                               tACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGa                                                   <  1:4624778/58‑1 (MQ=255)
                               tACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGt                                      <  1:4988659/71‑1 (MQ=255)
                                aCCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAAt                                                                      >  1:157408/1‑38 (MQ=255)
                                aCCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGa                                                   >  1:4976226/1‑57 (MQ=255)
                                aCCGGCACGCCCGCATACTGCGCCAGCGTTTCGACCACTTCCTGGCCGTGACCGCGATACTGAATGCCGt                                      >  1:1745219/1‑70 (MQ=255)
                                aCCGGCACGCCCGCATACTGCGCCAGCGTTTCGACCACTTCCTGGCCGTGACCGCGATACTGAATGCCGTc                                     <  1:4298337/71‑1 (MQ=255)
                                aCCGGCACGCCCGCATACTGCGCCAGCGTTTCGACCACTTCCTGGCCGTGACCGCGATACTGAATGCCGTc                                     <  1:333869/71‑1 (MQ=255)
                                 ccGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTc                                     <  1:3940701/70‑1 (MQ=255)
                                   ggCACGCCCGCATACTGCGCCAGCGTTTCGACCACTTCCTGGCCGTGACCGCGATACTGAATGCCGTCATa                                  >  1:3176107/1‑71 (MQ=255)
                                   ggCACGCCCGCATACTGCGCCAGCGTTTCGACCACTTCCTGGCCGTGACCGCGATACTGAATGCCGTCATa                                  <  1:2234140/71‑1 (MQ=255)
                                   ggCACGCCCGCATACTGCGCCAGCGTTTCGACCACTTCCTGGCCGTGACCGCGATACTGAATGCCGTCATa                                  >  1:4488857/1‑71 (MQ=255)
                                    gCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATAc                                 <  1:3546077/71‑1 (MQ=255)
                                    gCACGCCCGCATACTGCGCCAGCGTTTCGACCACTTCCTGGCCGTGACCGCGATACTGAATGCCGTCATa                                  >  1:484841/1‑70 (MQ=255)
                                    gCACGCCCGCATACTGCGCCAGCGTTTCGACCACTTCCTGGCCGTGACCGCGATACTGAATGCCGTCATa                                  >  1:269145/1‑70 (MQ=255)
                                    gCACGCCCGCATACTGCGCCAGCGTTTCGACCACTTCCTGGCCGTGACCGCGATACTGAATGCCGTCATa                                  >  1:5183585/1‑70 (MQ=255)
                                     cACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACa                                >  1:10161/1‑71 (MQ=255)
                                        gCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATa                                                 >  1:3112073/1‑51 (MQ=255)
                                        gCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGc                             <  1:3089849/71‑1 (MQ=255)
                                         cTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGc                             >  1:78385/1‑70 (MQ=255)
                                         cTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCg                            <  1:4496304/71‑1 (MQ=255)
                                            gCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGa                           <  1:5155006/69‑1 (MQ=255)
                                              gTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGAcc                         >  1:4695523/1‑69 (MQ=255)
                                               tATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAg                      >  1:4119429/1‑71 (MQ=255)
                                               tATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATAATGAATACCGTCATACATGCGACCAAg                      >  1:5192670/1‑71 (MQ=255)
                                                aTTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAg                      >  1:1579204/1‑70 (MQ=255)
                                                aTTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAg                      <  1:133222/70‑1 (MQ=255)
                                                 ttCCGCCAGTGTTTCGACAATCTCCTGACCATAGcc                                                       >  1:4921986/1‑36 (MQ=255)
                                                 ttCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCa                                    >  1:1888607/1‑55 (MQ=255)
                                                   ccGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCAcg                  >  1:832260/1‑71 (MQ=255)
                                                   ccGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCAc                   <  1:949554/70‑1 (MQ=255)
                                                   ccGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCAc                   <  1:74845/70‑1 (MQ=255)
                                                    cGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACa                                >  1:975375/1‑56 (MQ=255)
                                                    cGCCAGCGTTTCGACCACTTCCTGGCCGTGACCGCGATACTTAATGCCGTCATACATCCGCCCGAGAAc                   <  1:383035/69‑1 (MQ=255)
                                                    cGCCAGCGTTTCGACCACTTCCTGGCCGTGACCGCGATACTGAATGCCGTCATACATCCGCCCGAGAAc                   <  1:1889663/69‑1 (MQ=255)
                                                     gCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGt                                      <  1:305113/49‑1 (MQ=255)
                                                     gCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGt                                      <  1:2428923/49‑1 (MQ=255)
                                                       cAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCa                                    >  1:550620/1‑49 (MQ=255)
                                                       cAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCggg              <  1:4073582/71‑1 (MQ=255)
                                                        agcgtTTCGACCACTTCCTGGCCGTGACCGCGATACTGAATGCCGTCATACATCCGCCCGAGAACCCgcgc             <  1:2994542/68‑1 (MQ=255)
                                                         gtgtTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCggg              >  1:1101333/1‑69 (MQ=255)
                                                         gtgtTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCggg              >  1:1392164/1‑69 (MQ=255)
                                                         gtgtTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCggg              >  1:846323/1‑69 (MQ=255)
                                                          cgtTTCGACCACTTCCTGGCCGTGACCGCGATACTGAATGCCGTCATACATCCGCCCGAGAACCCgcgcgg           >  1:1599345/2‑69 (MQ=255)
                                                           gtTTCGACCACTTCCTGGCCGTGACCGCGATACTGAATGCCGTCATACAtc                              >  1:2186047/1‑50 (MQ=255)
                                                           gtTTCGACCACTTCCTGGCCGTGACCGCGATACTGAATGCCGTCATACAtc                              >  1:4166330/1‑50 (MQ=255)
                                                           gtTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAgt          >  1:115740/1‑71 (MQ=255)
                                                            tttCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGa                           <  1:4010447/53‑1 (MQ=255)
                                                            tttCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGa                           <  1:1687128/53‑1 (MQ=255)
                                                            tttCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAgtg         >  1:261763/1‑71 (MQ=255)
                                                            tttCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAgt          <  1:2736729/70‑1 (MQ=255)
                                                            tttCGACAATCTCCTGACAATAGCCGCGATACTGAATACCGTCATAc                                 <  1:1045940/47‑1 (MQ=255)
                                                              tCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCaa                       >  1:4513022/1‑55 (MQ=255)
                                                              tCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCa                    >  1:137224/1‑58 (MQ=255)
                                                              tCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTc       >  1:4688723/1‑71 (MQ=255)
                                                                gACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCa            >  1:4847672/1‑64 (MQ=255)
                                                                gACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCtt     <  1:2301822/71‑1 (MQ=255)
                                                                   aaTCTCCTGACCATAGCCGCGGTACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTaa  >  1:1903331/1‑71 (MQ=255)
                                                                   aaTCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCAcgc                 >  1:2663031/1‑56 (MQ=255)
                                                                   aaTCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTaa  <  1:1606965/71‑1 (MQ=255)
                                                                     |                                                                    
TGGGATGGAACTCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAA  >  Exported/2919290‑2919427

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: