Predicted mutation
evidence seq id position mutation freq annotation gene description
RA Exported 2,919,408 C→A 17.3% V96V (GTG→GTT argI ← ornithine carbamoyltransferase 1

Read alignment evidence...
  seq id position ref new freq score (cons/poly) reads annotation genes product
*Exported2,919,4080CA17.3% 370.0 / 39.8 137V96V (GTG→GTTargIornithine carbamoyltransferase 1
Reads supporting (aligned to +/- strand):  ref base C (69/44);  new base A (15/9);  total (84/53)
Fisher's exact test for biased strand distribution p-value = 1.00e+00
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 1.00e+00

Only 100 of 146 total aligned reads displayed.

TCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGC  >  Exported/2919340‑2919478
                                                                    |                                                                      
 ccGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCAcg                                                                     >  1:832260/1‑71 (MQ=255)
 ccGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCAc                                                                      <  1:949554/70‑1 (MQ=255)
  cGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCAcgc                                                                    <  1:4914136/71‑1 (MQ=255)
  cGCCAGCGTTTCGACCACTTCCTGGCCGTGACCGCGATACTTAATGCCGTCATACATCCGCCCGAGAAc                                                                      <  1:383035/69‑1 (MQ=255)
     cAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCggg                                                                 <  1:4073582/71‑1 (MQ=255)
      agcgtTTCGACCACTTCCTGGCCGTGACCGCGATACTGAATGCCGTCATACATCCGCCCGAGAACCCgcgc                                                                <  1:1399009/68‑1 (MQ=255)
       gtgtTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCggg                                                                 >  1:3615736/1‑69 (MQ=255)
       gtgtTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCggg                                                                 >  1:1101333/1‑69 (MQ=255)
        cgtTTCGACCACTTCCTGGCCGTGACCGCGATACTGAATGCCGTCATACATCCGCCCGAGAACCCgcgcgg                                                              >  1:1599345/2‑69 (MQ=255)
         gtTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAgt                                                             >  1:115740/1‑71 (MQ=255)
          tttCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAgt                                                             <  1:2736729/70‑1 (MQ=255)
            tCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCa                                                                       >  1:137224/1‑58 (MQ=255)
            tCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTc                                                          >  1:161096/1‑71 (MQ=255)
                cAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCa                                                                       >  1:5171538/1‑54 (MQ=255)
                 aaTCTCCTGACCATAGCCGCGGTACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTaa                                                     >  1:1903331/1‑71 (MQ=255)
                 aaTCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCAcgc                                                                    >  1:2663031/1‑56 (MQ=255)
                       cTGACCATAGCCGCTATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGAct                                               >  1:4619687/1‑71 (MQ=255)
                       cTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATc                                                   <  1:1424075/67‑1 (MQ=255)
                       cTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGa                                                 >  1:2821532/1‑69 (MQ=255)
                       cTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGa                                                 >  1:5649331/1‑69 (MQ=255)
                       cTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGAct                                               >  1:2343272/1‑71 (MQ=255)
                        tGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGa                                                 <  1:629304/68‑1 (MQ=255)
                         gACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTAAATCGActct                                             >  1:2658552/1‑71 (MQ=255)
                          aCCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCa                                                                       >  1:4250198/1‑44 (MQ=255)
                          aCCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCa                                                                       >  1:1658580/1‑44 (MQ=255)
                           ccATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGa                                                 >  1:2899789/1‑65 (MQ=255)
                            cATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCttt                                           >  1:242901/1‑70 (MQ=255)
                             aTAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTAt                                         >  1:612447/1‑71 (MQ=255)
                              tAGCGGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTAt                                         <  1:1430247/70‑1 (MQ=255)
                              tAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTAt                                         >  1:3135233/1‑70 (MQ=255)
                                gCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGa                                                 >  1:1259896/1‑60 (MQ=255)
                                accGCGATACTGAATGCCGTCATACATCCGCCCGAGAAc                                                                      >  1:1853748/2‑39 (MQ=255)
                                 ccGCGATACTGAATGCCGTCATACATCCGCCCGAGAACCCGCGCGGTGTCCTTAATTGACTCTTTATgcc                                      >  1:118750/1‑68 (MQ=255)
                                 ccGCGATACTGAATGCCGTCATACATCCGCCCGAGAACCCGCGCGGTGTCCTTAATTGACTCTTTATgcc                                      >  1:3837458/1‑68 (MQ=255)
                                   gcgATACTGAATGCCGTCATACATCCGCCCGAGAACCCGCGCGGTGTCCTTAATTGACTCTTTATGCCCaa                                   <  1:1430620/71‑1 (MQ=255)
                                    cgATACTGAATGCCGTCATACATCCGCCCGAGAACCCGCGCGGTGTCCTTAATTGAct                                               >  1:2446098/1‑58 (MQ=255)
                                    cgATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCtt                                            <  1:1306294/61‑1 (MQ=255)
                                    cgATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCtt                                            <  1:3285013/61‑1 (MQ=255)
                                    cgATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAAt                                  <  1:705228/71‑1 (MQ=255)
                                      aTACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATc                                                   >  1:4883388/1‑52 (MQ=255)
                                       tACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAgtg                                                            <  1:1824800/42‑1 (MQ=255)
                                       tACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATc                                                   <  1:75454/51‑1 (MQ=255)
                                       tACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCt                                <  1:548513/70‑1 (MQ=255)
                                       tACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCt                                <  1:5450936/70‑1 (MQ=255)
                                        aCTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTgg                              >  1:5162771/1‑71 (MQ=255)
                                         cTGAATACCGTCATACATGCGACCAAGCACGCGGGCAgtgt                                                           <  1:4325460/41‑1 (MQ=255)
                                         cTGAATACCGTCATACATGCGACCAAGCACGCGGGCAgtgt                                                           <  1:2991618/41‑1 (MQ=255)
                                         cTGAATACCGTCATACATGCGACCAAGCACGCGGGCAgtgt                                                           <  1:736227/41‑1 (MQ=255)
                                         cTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGa                                                 >  1:2172264/1‑51 (MQ=255)
                                         cTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTgg                              <  1:3782015/70‑1 (MQ=255)
                                         cTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGc                             >  1:5097980/1‑71 (MQ=255)
                                         cTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGc                             >  1:5073876/1‑71 (MQ=255)
                                           gAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTg                           >  1:761281/1‑71 (MQ=255)
                                             aTACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGa                                       <  1:4920252/57‑1 (MQ=255)
                                              tACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCtt                                            <  1:1953064/51‑1 (MQ=255)
                                              tACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCt                                >  1:1709686/1‑63 (MQ=255)
                                              tACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCt                                >  1:3357756/1‑63 (MQ=255)
                                               aCCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCtt                                            <  1:52630/50‑1 (MQ=255)
                                                 cGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCtt                     <  1:1396736/71‑1 (MQ=255)
                                                 cGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCtt                     <  1:2251261/71‑1 (MQ=255)
                                                 cGTCATACATCCGCCCGAGAACCCGCGCGGTGTCCTTAATTGACTCTTTATGCCCAATCTGGCTGCCGCtc                     >  1:5537000/1‑70 (MQ=255)
                                                  gTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTg                    <  1:94395/71‑1 (MQ=255)
                                                  gTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTg                    >  1:4752809/1‑71 (MQ=255)
                                                  gTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTg                    >  1:1869083/1‑71 (MQ=255)
                                                   tCATACATTCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCtt                                            <  1:1357500/46‑1 (MQ=255)
                                                   tCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTg                               <  1:632779/59‑1 (MQ=255)
                                                   tCATACATCCGCCCGAGAACCCGCGCGGTGTCCTTAATTGACTCTTTATGCCCAATCTGGCTGCCGCTCgg                   >  1:840455/1‑71 (MQ=255)
                                                     aTACATGCGACCAAGCACGCGGGCAGTGTCTTTAATc                                                   >  1:5520744/1‑37 (MQ=255)
                                                     aTACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTa                                          >  1:3644727/1‑46 (MQ=255)
                                                     aTACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGc                 >  1:923912/1‑71 (MQ=255)
                                                     aTACATGCGACCAAGCACGCGAGCAGTGTCTTTAATCGACTCTTTa                                          >  1:2356375/1‑46 (MQ=255)
                                                     aTACATCCGCCCGAGAACCCGCGCGGTGTCCTTAATTGACTCTTTATGCCCAATCTGGCTGCCGCTCggcc                 >  1:3962020/1‑69 (MQ=255)
                                                      tACATGCGACCAAGCACGCGGGCAGTGTCTTTAATc                                                   <  1:1540406/36‑1 (MQ=255)
                                                      tACATCCGCCCGAGAACCCGCGCGGTGTCCTTAATTGACTCTTTATGCCCAATCTGGCTGCCGCTCGGccc                >  1:3542633/1‑71 (MQ=255)
                                                       aCATCCGCCCGAGAACCCGCGCGGTGTCCTTAATTGACTCTTTATGCCCAATCTGGCTGCCGCTCGGccc                >  1:5546291/1‑70 (MQ=255)
                                                        cATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGAct                                               >  1:5113304/1‑38 (MQ=255)
                                                        cATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGcc                >  1:4151673/1‑69 (MQ=255)
                                                        cATGCGACCAACCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCga              <  1:2594551/71‑1 (MQ=255)
                                                        cATCCGCCCGAGAACCCGCGCGGTGTCCTTAATTGACTCTTTATGCCCAATCTGGCTGCCGCTCGGcccta              <  1:2485555/71‑3 (MQ=255)
                                                         aTGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTg                               >  1:4953611/1‑53 (MQ=255)
                                                         aTGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGcc                >  1:4380865/1‑68 (MQ=255)
                                                          tGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCaa                                   <  1:3244587/48‑1 (MQ=255)
                                                          tGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGcc                >  1:3635020/1‑67 (MQ=255)
                                                          tGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGcc                >  1:3080077/1‑67 (MQ=255)
                                                           gCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTgg                              >  1:1002154/1‑52 (MQ=255)
                                                           gCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCt                      >  1:2186677/1‑60 (MQ=255)
                                                           gCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCgaga            >  1:4028116/1‑70 (MQ=255)
                                                               ccAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGt       <  1:22761/71‑1 (MQ=255)
                                                                cAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGt       <  1:867675/70‑1 (MQ=255)
                                                                cAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTa      <  1:3437969/71‑1 (MQ=255)
                                                                cAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTa      <  1:4491596/71‑1 (MQ=255)
                                                                 aaGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTaa     >  1:3226887/1‑71 (MQ=255)
                                                                  aGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCtt                     <  1:2231518/54‑1 (MQ=255)
                                                                  aGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTaa     <  1:4695923/70‑1 (MQ=255)
                                                                   gCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATaa         >  1:5623959/1‑65 (MQ=255)
                                                                    cACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTgg                              >  1:4376206/1‑43 (MQ=255)
                                                                    cACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTgg                              >  1:1145620/1‑43 (MQ=255)
                                                                    cACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTgg                              >  1:4564316/1‑43 (MQ=255)
                                                                    cACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGcc                <  1:4417167/57‑1 (MQ=255)
                                                                    cACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGt       >  1:2871870/1‑66 (MQ=255)
                                                                    |                                                                      
TCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGC  >  Exported/2919340‑2919478

Alignment Legend
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 14 ≤ ATCG/ATCG < 32 ≤ ATCG/ATCG < 36 ≤ ATCG/ATCG
Unaligned base: atcg    Masked matching base: atcg    Alignment gap:     Deleted base: