Predicted mutation
evidence seq id position mutation freq annotation gene description
RA Exported 2,919,399 G→C 16.9% R99R (CGC→CGG argI ← ornithine carbamoyltransferase 1

Read alignment evidence...
  seq id position ref new freq score (cons/poly) reads annotation genes product
*Exported2,919,3990GC16.9% 330.8 / 56.5 148R99R (CGC→CGGargIornithine carbamoyltransferase 1
Reads supporting (aligned to +/- strand):  ref base G (75/47);  new base C (16/9);  total (91/57)
Fisher's exact test for biased strand distribution p-value = 1.00e+00
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 3.23e-01

Only 100 of 151 total aligned reads displayed.

GCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGA  >  Exported/2919330‑2919468
                                                                     |                                                                     
 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)
      gTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGAcc                                                                  >  1:4983560/1‑69 (MQ=255)
       tATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAg                                                               >  1:4119429/1‑71 (MQ=255)
       tATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAg                                                               >  1:2112056/1‑71 (MQ=255)
       tATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATAATGAATACCGTCATACATGCGACCAAg                                                               >  1:5192670/1‑71 (MQ=255)
        aTTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAg                                                               <  1:133222/70‑1 (MQ=255)
        aTTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAg                                                               >  1:776690/1‑70 (MQ=255)
          tCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCa                                                             >  1:5674224/1‑70 (MQ=255)
           ccGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGa                                                                    >  1:3163553/1‑62 (MQ=255)
            cGCCAGCGTTTCGACCACTTCCTGGCCGTGACCGCGATACTTAATGCCGTCATACATCCGCCCGAGAAc                                                            <  1:383035/69‑1 (MQ=255)
               cAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCggg                                                       <  1:4073582/71‑1 (MQ=255)
                agcgtTTCGACCACTTCCTGGCCGTGACCGCGATACTGAATGCCGTCATACATCCGCCCGAGAACCCgcgc                                                      <  1:1399009/68‑1 (MQ=255)
                 gtgtTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCggg                                                       >  1:1101333/1‑69 (MQ=255)
                 gtgtTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCggg                                                       >  1:846323/1‑69 (MQ=255)
                  cgtTTCGACCACTTCCTGGCCGTGACCGCGATACTGAATGCCGTCATACATCCGCCCGAGAACCCgcgcgg                                                    >  1:1599345/2‑69 (MQ=255)
                   gtTTCGACCACTTCCTGGCCGTGACCGCGATACTGAATGCCGTCATACATCCGCCCGAgaa                                                             >  1:2348327/1‑59 (MQ=255)
                   gtTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAgt                                                   >  1:115740/1‑71 (MQ=255)
                    tttCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGa                                                                    <  1:4010447/53‑1 (MQ=255)
                    tttCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAgtg                                                  >  1:261763/1‑71 (MQ=255)
                    tttCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAgt                                                   <  1:2736729/70‑1 (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)
                          cAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCa                                                             >  1:5171538/1‑54 (MQ=255)
                           aaTCTCCTGACCATAGCCGCGGTACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTaa                                           >  1:1903331/1‑71 (MQ=255)
                           aaTCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTaa                                           <  1:1606965/71‑1 (MQ=255)
                                 cTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATc                                         <  1:1424075/67‑1 (MQ=255)
                                 cTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATc                                         >  1:1537469/1‑67 (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)
                                    aCCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAgtgt                                                 >  1:2735544/1‑56 (MQ=255)
                                     ccATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGa                                       >  1:2899789/1‑65 (MQ=255)
                                      cATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCttt                                 >  1:242901/1‑70 (MQ=255)
                                        tAGCGGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTAt                               <  1:1430247/70‑1 (MQ=255)
                                        tAGCCGCGATACTGAATACCGTCATACATGCGACCAAg                                                               <  1:3016552/38‑1 (MQ=255)
                                        tAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTAt                               >  1:3135233/1‑70 (MQ=255)
                                          gCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGa                                       >  1:2471840/1‑60 (MQ=255)
                                          accGCGATACTGAATGCCGTCATACATCCGCCCGAGAAc                                                            >  1:1853748/2‑39 (MQ=255)
                                           ccGCGATACTGAATGCCGTCATACATCCGCCCGAGAACCCGCGCGGTGTCCTTAATTGACTCTTTATgcc                            >  1:118750/1‑68 (MQ=255)
                                           ccGCGATACTGAATGCCGTCATACATCCGCCCGAGAACCCGCGCGGTGTCCTTAATTGACTCTTTATgcc                            >  1:3837458/1‑68 (MQ=255)
                                              cgATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCtt                                  <  1:1306294/61‑1 (MQ=255)
                                              cgATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAAt                        <  1:705228/71‑1 (MQ=255)
                                                aTACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATc                                         >  1:4883388/1‑52 (MQ=255)
                                                 tACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAgtg                                                  <  1:1824800/42‑1 (MQ=255)
                                                 tACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATc                                         <  1:4917832/51‑1 (MQ=255)
                                                 tACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATc                                         <  1:75454/51‑1 (MQ=255)
                                                 tACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCt                      <  1:5450936/70‑1 (MQ=255)
                                                 tACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCt                      <  1:548513/70‑1 (MQ=255)
                                                   cTGAATACCGTCATACATGCGACCAAGCACGCGGGCAgtgt                                                 <  1:4325460/41‑1 (MQ=255)
                                                   cTGAATACCGTCATACATGCGACCAAGCACGCGGGCAgtgt                                                 <  1:736227/41‑1 (MQ=255)
                                                   cTGAATACCGTCATACATGCGACCAAGCACGCGGGCAgtgt                                                 <  1:2991618/41‑1 (MQ=255)
                                                   cTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGa                                       >  1:3373813/1‑51 (MQ=255)
                                                   cTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGa                                       >  1:2172264/1‑51 (MQ=255)
                                                   cTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGa                                       >  1:2246479/1‑51 (MQ=255)
                                                   cTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTgg                    <  1:925971/70‑1 (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                      >  1:3357756/1‑63 (MQ=255)
                                                        tACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCt                      >  1:1709686/1‑63 (MQ=255)
                                                         aCCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCtt                                  <  1:52630/50‑1 (MQ=255)
                                                           cGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCtt           <  1:2251261/71‑1 (MQ=255)
                                                           cGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCtt           <  1:1396736/71‑1 (MQ=255)
                                                           cGTCATACATCCGCCCGAGAACCCGCGCGGTGTCCTTAATTGACTCTTTATGCCCAATCTGGCTGCCGCtc           <  1:3275831/71‑2 (MQ=255)
                                                           cGTCATACATCCGCCCGAGAACCCGCGCGGTGTCCTTAATTGACTCTTTATGCCCAATCTGGCTGCCGCtc           >  1:5537000/1‑70 (MQ=255)
                                                           cGTCATACATCCGCCCGAGAACCCGCGCGGTGTCCTTAATTGACTCTTTATGCCCAATCTGGCTGCCGCtc           <  1:1665900/71‑2 (MQ=255)
                                                            gTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTg          <  1:94395/71‑1 (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                                         >  1:4025508/1‑37 (MQ=255)
                                                               aTACATGCGACCAAGCACGCGGGCAGTGTCTTTAATc                                         >  1:5520744/1‑37 (MQ=255)
                                                               aTACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGc       >  1:3595857/1‑71 (MQ=255)
                                                               aTACATCCGCCCGAGAACCCGCGCGGTGTCCTTAATTGACTCTTTATGCCCAATCTGGCTGCCGCTCggcc       >  1:3962020/1‑69 (MQ=255)
                                                                tACATGCGACCAAGCACGCGGGCAGTGTCTTTAATc                                         <  1:1540406/36‑1 (MQ=255)
                                                                tACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGa                                       <  1:952870/38‑1 (MQ=255)
                                                                tACATCCGCCCGAGAACCCGCGCGGTGTCCTTAATTGACTCTTTATGCCCAATCTGGCTGCCGCTCGGccc      >  1:3542633/1‑71 (MQ=255)
                                                                 aCATCCGCCCGAGAACCCGCGCGGTGTCCTTAATTGACTCTTTATGCCCAATCTGGCTGCCGCTCGGccc      >  1:5546291/1‑70 (MQ=255)
                                                                 aCATCCGCCCGAGAACCCGCGCGGTGTCCTTAATTGACTCTTTATGCCCAATCTGGCTGCCGCTCGGccc      >  1:4988122/1‑70 (MQ=255)
                                                                  cATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGAct                                     >  1:5116345/1‑38 (MQ=255)
                                                                  cATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGAct                                     >  1:2368551/1‑38 (MQ=255)
                                                                  cATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGcc      >  1:4151673/1‑69 (MQ=255)
                                                                  cATCCGCCCGAGAACCCGCGCGGTGTCCTTAATTGACTCTTTATGCCCAATCTGGCTGCCGCTCGGcccta    <  1:2485555/71‑3 (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)
                                                                     |                                                                     
GCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGA  >  Exported/2919330‑2919468

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: