Predicted mutation
evidence seq id position mutation freq annotation gene description
RA Exported 2,919,030 T→G 14.7% G222G (GGA→GGC argI ← ornithine carbamoyltransferase 1

Read alignment evidence...
  seq id position ref new freq score (cons/poly) reads annotation genes product
*Exported2,919,0300TG14.7% 239.7 / 39.2 115G222G (GGA→GGCargIornithine carbamoyltransferase 1
Reads supporting (aligned to +/- strand):  ref base T (56/42);  new base G (6/11);  total (62/53)
Fisher's exact test for biased strand distribution p-value = 1.17e-01
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 1.00e+00

Only 100 of 116 total aligned reads displayed.

CCCATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTAATATTCCCACCATTTTGCTGTGCCAGGGCGCGGCATTCCGT  >  Exported/2918963‑2919098
                                                                   |                                                                    
cccATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTccc                                                                   <  1:3060935/71‑1 (MQ=255)
cccATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTccc                                                                   >  1:5491266/1‑71 (MQ=255)
cccATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTccc                                                                   <  1:3629874/71‑1 (MQ=255)
  cATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCtt                                                                 <  1:1871039/71‑1 (MQ=255)
     ttCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTcgc                                                              >  1:4237013/1‑71 (MQ=255)
     ttCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTcgc                                                              >  1:1655064/1‑71 (MQ=255)
          ttttGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGa                                                            <  1:2528728/68‑1 (MQ=255)
            ttGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACa                                                          <  1:4651977/68‑1 (MQ=255)
            ttGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCt                                                       >  1:5557643/1‑71 (MQ=255)
              gCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCtt                                                      <  1:2004203/70‑1 (MQ=255)
               cTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCtt                                                      <  1:2252240/69‑1 (MQ=255)
               cTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTtc                                                     <  1:4167243/70‑1 (MQ=255)
                  cgcccATCGACACCCACACGTCGGTATAGATAAAGTCCGCGCCCTTAACGCCTGCCGCCACGTCTtccgt                                                  >  1:3276132/3‑70 (MQ=255)
                   gcccATCGACACCCACACGTCGGTATAGATAAAGTCCGCGCCCTTAACGCCTGCCGCCACGTCTtccgt                                                  <  1:5155262/68‑1 (MQ=255)
                   ccccATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTtcagtca                                                <  1:1016743/71‑1 (MQ=255)
                   ccccATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTtcagt                                                  >  1:2729781/1‑69 (MQ=255)
                     ccATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTcg                                                               <  1:5627018/54‑1 (MQ=255)
                      cATCGACACCCACACGTCGGTATAGATAAAGTCCGCGCCCTTAACGCCTGCCGCCACGTCTtccgtcagag                                             >  1:4499752/1‑69 (MQ=255)
                      cATCGACACCCACACGTCGGTATAGATAAAGTCCGCGCCCTTAACGCCTGCCGCCACGTCTtccgtcagag                                             >  1:2895963/1‑69 (MQ=255)
                      cATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACAt                                                         >  1:3795003/1‑59 (MQ=255)
                      cATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACAt                                                         >  1:4784833/1‑59 (MQ=255)
                      cATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCg                                             <  1:1275353/71‑1 (MQ=255)
                      cATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCg                                             <  1:771674/71‑1 (MQ=255)
                      cATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCg                                             >  1:2678923/1‑71 (MQ=255)
                       aTCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTcgcg                                                             >  1:5672435/1‑54 (MQ=255)
                       aTCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGt                                            <  1:4560752/71‑1 (MQ=255)
                       aTCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGt                                            <  1:1037820/71‑1 (MQ=255)
                       aTCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTACCTTcgcg                                                             >  1:1802820/1‑54 (MQ=255)
                        tCGACACCCACACGTCGGTATAGATAAAGTCCGCGCCCTTAACGCCTGCCGCCACGTCTTCCGTCAGAGt                                            >  1:2500106/1‑70 (MQ=255)
                        tCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCg                                             <  1:1752024/69‑1 (MQ=255)
                        tCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGt                                            <  1:2239125/70‑1 (MQ=255)
                        tCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGt                                            <  1:5486764/70‑1 (MQ=255)
                        tCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTa                                           <  1:915455/71‑1 (MQ=255)
                          gACACCCACACGTCGGTATAGATAAAGTCCGCGCCCTTAACGCCTGCCGCCACGTCTtccgtcag                                               >  1:5216762/1‑65 (MQ=255)
                          gACACCCACACGTCGGTATAGATAAAGTCCGCGCCCTTAACGCCTGCCGCCACGTCTtcc                                                    <  1:273483/60‑2 (MQ=255)
                          gACACCCACACGTCGGTATAGATAAAGTCCGCGCCCTTAACGCCTGCCGCCACGTCTtcc                                                    <  1:1093968/60‑2 (MQ=255)
                          gACACCCACACGTCGGTATAGATAAAGTCCGCGCCCTTAACGCCTGCCGCCACGTCTtcc                                                    <  1:688040/60‑2 (MQ=255)
                          gACACCCACACGTCGGTATAGATAAAGTCCGCGCCCTTAACGCCTGCCGCCACGTCTTCCGTCAGAGTaa                                          <  1:44697/70‑1 (MQ=255)
                          gACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTaa                                          <  1:461701/70‑1 (MQ=255)
                          gACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTaa                                          <  1:5400366/70‑1 (MQ=255)
                          gACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTaa                                          <  1:4719430/70‑1 (MQ=255)
                          gACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTaa                                          >  1:201459/1‑70 (MQ=255)
                           acacCCACACGTCGGTATAGATAAAGTCCGCGCCCTTAACGCCTGCCGCCACGTCTTCCGTCAGAGTAatt                                        <  1:136832/71‑2 (MQ=255)
                            cacCCACACGTCGGTATAGATAAAGTCCGCGCCCTTAACGCCTGCCGCCACGTCTTCCGTCAGAGTAatt                                        <  1:4678501/70‑2 (MQ=255)
                            cacCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTAatat                                       <  1:1667379/71‑1 (MQ=255)
                             acCCACACGTCGGTATAGATAAAGTCCGCGCCCTTAACGCCTGCCGCCACGTCTTCCGTCAGAGTAAtttt                                      <  1:446908/71‑1 (MQ=255)
                             acCCACACGTCGGTATAGATAAAGTCAGCGCCCTTAACGcct                                                                   >  1:5390758/1‑41 (MQ=19)
                               ccACACATCGGTATAGATAAAGTCAGCACCTTCAACt                                                                      <  1:1319840/37‑1 (MQ=255)
                               ccACACATCGGTATAGATAAAGTCAGCACCTTCAACTc                                                                     <  1:1558059/38‑1 (MQ=255)
                                 acacgTCGGTATAGATAAAGTCCGCGCCCTTAACGCCTGCCGCCACGTCTTCCGTCAGAGTAATTTTccc                                   <  1:502133/70‑1 (MQ=255)
                                  cacgTCGGTATAGATAAAGTCCGCGCCCTTAACGCCTGCCGCCACGTCTTCCGTCAGAGTAATTTTcccgc                                 <  1:4008764/71‑3 (MQ=255)
                                      tCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTAATATTCCCACCAtt                             >  1:1991553/1‑71 (MQ=255)
                                      tCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTAATATACCCACCAtt                             >  1:889811/1‑71 (MQ=255)
                                       cGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTAATATTCCCACCAttt                            >  1:4585453/1‑71 (MQ=255)
                                       cGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTAATATTCCCACCAtt                             >  1:342343/1‑70 (MQ=255)
                                        ggTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTAATATTCCCACCAttt                            <  1:2636554/70‑1 (MQ=255)
                                         gTATAGATAAAGTCCGCGCCCTTAACGCCTGCCGCCACGTCTTCCGTCAGAGTaa                                          <  1:4481423/55‑1 (MQ=255)
                                          tataGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTaa                                          >  1:1363853/1‑54 (MQ=255)
                                          tataGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTAATATTCCCACCATTTTGc                         <  1:5446279/71‑1 (MQ=255)
                                           ataGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTaa                                          >  1:4385411/1‑53 (MQ=255)
                                           ataGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTAATATTCCCACCATTTTGc                         <  1:2386782/70‑1 (MQ=255)
                                           ataGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTAATATTCCCACCATTTTGCt                        >  1:3921898/1‑71 (MQ=255)
                                            taGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTtca                                                    >  1:4240435/1‑42 (MQ=255)
                                            taGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTAATATTCCCACCATTTTGCt                        <  1:2102710/70‑1 (MQ=255)
                                             aGATAAAGTCAGCACCTTCAACTCCCTTCGCGACAt                                                         >  1:1292258/1‑36 (MQ=255)
                                             aGATAAAGTCAGCACCTTCAACTCCCTTCGCGACAt                                                         >  1:4174306/1‑36 (MQ=255)
                                             aGATAAAGTCAGCACCTTCAACTCCCTTCGCGACAt                                                         >  1:214075/1‑36 (MQ=255)
                                             aGATAAAGTCAGCACCTTCAACTCCTTCGCGACAt                                                         >  1:4044749/1‑35 (MQ=37)
                                              gATAAAGTCAGCACCTTCATCTCCCTTCGCGACATCTTCAGTCAGCGTAATATTCCCACCATTTTGCtgt                      <  1:3238658/70‑1 (MQ=255)
                                              gATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGc                                              >  1:4195790/1‑46 (MQ=255)
                                              gATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTAATATTCCCACCATTTTGCtgtg                     >  1:2439887/1‑71 (MQ=255)
                                              gATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTAATATTCCCACCATTTTGCtgt                      <  1:5064214/70‑1 (MQ=255)
                                               aTAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTAATATTCCCACCATTTTGCTGTGc                    >  1:114477/1‑71 (MQ=255)
                                               aTAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTAATATTCCCACCATTTTGCTGTGc                    >  1:5286715/1‑71 (MQ=255)
                                                tAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTAatat                                       >  1:3745233/1‑51 (MQ=255)
                                                tAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTAata                                        >  1:3727373/1‑50 (MQ=255)
                                                tAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTAata                                        >  1:5605548/1‑50 (MQ=255)
                                                tAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTAata                                        >  1:1751562/1‑50 (MQ=255)
                                                 aaaGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTAATATTCCCACCAttt                            >  1:3638643/1‑61 (MQ=255)
                                                 aaaGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTAATATTCCCACCATTTTGCTGTGc                    >  1:2875830/1‑69 (MQ=255)
                                                  aaGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTAATATTCCCACCATTTTGCTGTGCCAg                 <  1:4492103/71‑1 (MQ=255)
                                                  aaGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTAATATTCCCACCATTTTGCTGTGCCAg                 >  1:935351/1‑71 (MQ=255)
                                                  aaGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTAATATTCCCACCATTTTGCTGTGCCAg                 >  1:606229/1‑71 (MQ=255)
                                                       aGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTAATATTCCCACCATTTTGCTGTGCCAGGgcgc            >  1:1041422/1‑71 (MQ=255)
                                                          aCCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTAATATTCCCACCATTTTGCTGTGCCAGGgc              <  1:5105152/66‑1 (MQ=255)
                                                          aCCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTAATATTCCCACCATTTTGCTGTGCCAGGGCGCgg          <  1:35028/70‑1 (MQ=255)
                                                           ccTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTAATATTCCCACCAtttt                           <  1:208186/52‑1 (MQ=255)
                                                            cTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTAATAtt                                      <  1:5339524/40‑1 (MQ=255)
                                                            cTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTAATATTCCCACCATTTTGCTGTGCCAGGGCGCGGCAt       >  1:4823614/1‑71 (MQ=255)
                                                             ttCAACTCCCTTCGCGACATCTTCAGTCAGCGTAATATTCCCACCATTTTGCTGTGCCa                  >  1:666973/1‑59 (MQ=255)
                                                             ttCAACTCCCTTCGCGACATCTTCAGTCAGCGTAATATTCCCACCATTTTGCTGTGCCAGGGCGCGGCAtt      >  1:1386446/1‑71 (MQ=255)
                                                              tCAACTCCCTTCGCGACATCTTCAGTCAGCGTAat                                         >  1:4782354/1‑35 (MQ=255)
                                                              tCAACTCCCTTCGCGACATCTTCAGTCAGCGTAATATTCCCACCATTTTGCTGTGCCAGGGCGCGGCATTc     >  1:4996846/1‑71 (MQ=255)
                                                              tCAACTCCCTTCGCGACATCTTCAGTCAGCGTAATATTCCCACCATTTTGCTGTGCCAGGGCGCGGCATTc     >  1:2743851/1‑71 (MQ=255)
                                                               cAACTCCCTTCGCGACATCTTCAGTCAGCGTAATATTcc                                    >  1:4661654/1‑39 (MQ=255)
                                                               cAACTCCCTTCGCGACATCTTCAGTCAGCGTAATATTCCCACCATTTTGCTGTGCCa                  >  1:5480786/1‑57 (MQ=255)
                                                               cAACTCCCTTCGCGACATCTTCAGTCAGCGTAATATTCCCACCATTTTGCTGTGCCAGGGCGCGGCAtt      <  1:1318716/69‑1 (MQ=255)
                                                                aaCTCCCTTCGCGACATCTTCAGTCAGCGTAATATTCCCACCATTTTGCTGTGCCAGGGCGCGGCATTCCg   >  1:697273/1‑71 (MQ=255)
                                                                 aCTCCCTTCGCGACATCTTCAGTCAGCGTAATATTCCCACCATTTTGCTGTGCCAGGGCGCGGCATTCCGt  <  1:5245239/71‑1 (MQ=255)
                                                                 aCTCCCTTCGCGACATCTTCAGTCAGCGTAATATTCCCACCATTTTGCTGTGCCAGGGCGCGGCATTCCGt  <  1:3372853/71‑1 (MQ=255)
                                                                   |                                                                    
CCCATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTAATATTCCCACCATTTTGCTGTGCCAGGGCGCGGCATTCCGT  >  Exported/2918963‑2919098

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: