Predicted mutation
evidence seq id position mutation freq annotation gene description
RA Exported 2,919,411 G→C 15.1% R95R (CGC→CGG argI ← ornithine carbamoyltransferase 1

Read alignment evidence...
  seq id position ref new freq score (cons/poly) reads annotation genes product
*Exported2,919,4110GC15.1% 319.9 / 43.0 132R95R (CGC→CGGargIornithine carbamoyltransferase 1
Reads supporting (aligned to +/- strand):  ref base G (67/45);  new base C (14/6);  total (81/51)
Fisher's exact test for biased strand distribution p-value = 4.61e-01
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.58e-01

Only 100 of 136 total aligned reads displayed.

CCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGC  >  Exported/2919341‑2919478
                                                                      |                                                                   
 cGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCAcgc                                                                    <  1:4914136/71‑1 (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)
      gtgtTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCggg                                                                 >  1:3615736/1‑69 (MQ=255)
       cgtTTCGACCACTTCCTGGCCGTGACCGCGATACTGAATGCCGTCATACATCCGCCCGAGAACCCgcgcgg                                                              >  1:1599345/2‑69 (MQ=255)
        gtTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAgt                                                             >  1:115740/1‑71 (MQ=255)
         tttCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAgtg                                                            >  1:261763/1‑71 (MQ=255)
         tttCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAgt                                                             <  1:2736729/70‑1 (MQ=255)
           tCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTc                                                          >  1:4688723/1‑71 (MQ=255)
                aaTCTCCTGACCATAGCCGCGGTACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTaa                                                     >  1:1903331/1‑71 (MQ=255)
                aaTCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCAcgc                                                                    >  1:2663031/1‑56 (MQ=255)
                aaTCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTaa                                                     <  1:1606965/71‑1 (MQ=255)
                      cTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGa                                                 >  1:2821532/1‑69 (MQ=255)
                      cTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGa                                                 >  1:5649331/1‑69 (MQ=255)
                      cTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGAct                                               >  1:2343272/1‑71 (MQ=255)
                      cTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGAGTCTTTAATCGAct                                               >  1:772278/1‑71 (MQ=255)
                       tGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGActc                                              >  1:5559379/1‑71 (MQ=255)
                        gACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTAAATCGActct                                             >  1:2658552/1‑71 (MQ=255)
                          ccATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGa                                                 >  1:2899789/1‑65 (MQ=255)
                            aTAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTAt                                         >  1:612447/1‑71 (MQ=255)
                             tAGCGGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTAt                                         <  1:1430247/70‑1 (MQ=255)
                             tAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTAt                                         >  1:3135233/1‑70 (MQ=255)
                               gCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATc                                                   >  1:4397023/1‑58 (MQ=255)
                               gCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGa                                                 >  1:2471840/1‑60 (MQ=255)
                               accGCGATACTGAATGCCGTCATACATCCGCCCGAGAACCCGCGCGGTGTCCTTAATTGACTCTTTATgcc                                      >  1:3168685/2‑69 (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)
                                      tACTGAATGCCGTCATACATCCGCCCGAGAACCCGCGCGGTGTCCTTaa                                                     >  1:134308/1‑49 (MQ=255)
                                      tACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAgtg                                                            <  1:1824800/42‑1 (MQ=255)
                                      tACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATc                                                   <  1:75454/51‑1 (MQ=255)
                                      tACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATc                                                   <  1:4917832/51‑1 (MQ=255)
                                      tACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCt                                <  1:548513/70‑1 (MQ=255)
                                      tACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCt                                <  1:5450936/70‑1 (MQ=255)
                                        cTGAATACCGTCATACATGCGACCAAGCACGCGGGCAgtgt                                                           <  1:4325460/41‑1 (MQ=255)
                                        cTGAATACCGTCATACATGCGACCAAGCACGCGGGCAgtgt                                                           <  1:2991618/41‑1 (MQ=255)
                                        cTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGa                                                 >  1:2246479/1‑51 (MQ=255)
                                        cTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGa                                                 >  1:2172264/1‑51 (MQ=255)
                                        cTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGa                                                 >  1:3373813/1‑51 (MQ=255)
                                        cTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTgg                              <  1:63655/70‑1 (MQ=255)
                                        cTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTgg                              <  1:925971/70‑1 (MQ=255)
                                        cTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTgg                              <  1:3782015/70‑1 (MQ=255)
                                        cTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGc                             >  1:5097980/1‑71 (MQ=255)
                                          gAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTg                           >  1:761281/1‑71 (MQ=255)
                                             tACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCtt                                            <  1:1953064/51‑1 (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                     <  1:1665900/71‑2 (MQ=255)
                                                 gTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTg                    >  1:5531244/1‑71 (MQ=255)
                                                 gTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTg                    >  1:4752809/1‑71 (MQ=255)
                                                 gTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTg                    <  1:94395/71‑1 (MQ=255)
                                                 gTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTg                    >  1:1869083/1‑71 (MQ=255)
                                                  tCATACATTCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCtt                                            <  1:1357500/46‑1 (MQ=255)
                                                  tCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCtt                                            <  1:1413106/46‑1 (MQ=255)
                                                  tCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTg                               <  1:632779/59‑1 (MQ=255)
                                                  tCATACATCCGCCCGAGAACCCGCGCGGTGTCCTTAATTGACTCTTTATGCCCAATCTGGCTGCCGCTCgg                   >  1:840455/1‑71 (MQ=255)
                                                    aTACATGCGACCAAGCACGCGGGCAGTGTCTTTAATc                                                   >  1:5520744/1‑37 (MQ=255)
                                                    aTACATGCGACCAAGCACGCGGGCAGTGTCTTTAATc                                                   >  1:4025508/1‑37 (MQ=255)
                                                    aTACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGc                 >  1:3595857/1‑71 (MQ=255)
                                                    aTACATGCGACCAAGCACGCGAGCAGTGTCTTTAATCGACTCTTTa                                          >  1:2356375/1‑46 (MQ=255)
                                                     tACATGCGACCAAGCACGCGGGCAGTGTCTTTAATc                                                   <  1:1540406/36‑1 (MQ=255)
                                                      aCATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGcc                >  1:4259163/1‑70 (MQ=255)
                                                      aCATCCGCCCGAGAACCCGCGCGGTGTCCTTAATTGACTCTTTATGCCCAATCTGGCTGCCGCTCGGccc                >  1:5546291/1‑70 (MQ=255)
                                                      aCATCCGCCCGAGAACCCGCGCGGTGTCCTTAATTGACTCTTTATGCCCAATCTGGCTGCCGCTCGGccc                >  1:4988122/1‑70 (MQ=255)
                                                       cATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGAct                                               >  1:2368551/1‑38 (MQ=255)
                                                       cATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGAct                                               >  1:5113304/1‑38 (MQ=255)
                                                       cATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGAct                                               >  1:5116345/1‑38 (MQ=255)
                                                       cATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGcc                >  1:4151673/1‑69 (MQ=255)
                                                       cATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGcc                >  1:5194333/1‑69 (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                >  1:3080077/1‑67 (MQ=255)
                                                         tGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGcc                >  1:3635020/1‑67 (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)
                                                                 aGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTaa     <  1:4695923/70‑1 (MQ=255)
                                                                   cACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTgg                              >  1:2877340/1‑43 (MQ=255)
                                                                   cACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTgg                              >  1:4564316/1‑43 (MQ=255)
                                                                   cACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTgg                              >  1:1145620/1‑43 (MQ=255)
                                                                   cACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAAcgc  >  1:3650320/1‑71 (MQ=255)
                                                                   cACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAAcgc  <  1:4518990/71‑1 (MQ=255)
                                                                   cACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAAcgc  <  1:1254243/71‑1 (MQ=255)
                                                                    aCGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAAcgc  <  1:5614383/70‑1 (MQ=255)
                                                                      |                                                                   
CCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGC  >  Exported/2919341‑2919478

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: