Predicted mutation
evidence seq id position mutation freq annotation gene description
RA Exported 2,919,021 A→G 19.6% G225G (GGT→GGC argI ← ornithine carbamoyltransferase 1

Read alignment evidence...
  seq id position ref new freq score (cons/poly) reads annotation genes product
*Exported2,919,0210AG19.6% 193.6 / 41.0 97G225G (GGT→GGCargIornithine carbamoyltransferase 1
Reads supporting (aligned to +/- strand):  ref base A (43/35);  new base G (7/12);  total (50/47)
Fisher's exact test for biased strand distribution p-value = 2.02e-01
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 8.35e-01

CAATCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTAATATTCCCACCATTTTGCTGTGCCAGGGCGCGG  >  Exported/2918951‑2919090
                                                                      |                                                                     
caatCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGCa                                                                       >  1:2686812/1‑71 (MQ=255)
caatCCGCTCTGCCCACTTCTCTTTGGCCTCGCCCATCGCCACCCACACGTCGG‑‑TAGATAAAGTCCGCGcc                                                                     >  1:301910/1‑71 (MQ=255)
  atCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGCAcc                                                                     <  1:5682900/71‑1 (MQ=255)
     cGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTc                                                                  <  1:70331/71‑1 (MQ=255)
            cccATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTccc                                                           >  1:5491266/1‑71 (MQ=255)
            cccATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTccc                                                           <  1:3060935/71‑1 (MQ=255)
            cccATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTccc                                                           <  1:3629874/71‑1 (MQ=255)
            cccACTTCTCTTTGGCCTCGCCCATCGACACCCACACGTCGGTATAGATAAAGTCCGCGCCCTTAAcgc                                                             <  1:5240011/69‑3 (MQ=255)
             ccATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGCAc                                                                      >  1:5649250/1‑59 (MQ=255)
              cATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCtt                                                         <  1:1871039/71‑1 (MQ=255)
                 ttCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTcgc                                                      >  1:1655064/1‑71 (MQ=255)
                 ttCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTcgc                                                      >  1:4237013/1‑71 (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)
                           cTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTtc                                             <  1:220242/70‑1 (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                                                 >  1:1293607/1‑59 (MQ=255)
                                  cATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACAt                                                 >  1:4784833/1‑59 (MQ=255)
                                  cATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACAt                                                 >  1:3795003/1‑59 (MQ=255)
                                  cATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCg                                     >  1:2678923/1‑71 (MQ=255)
                                  cATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCg                                     <  1:771674/71‑1 (MQ=255)
                                  cATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCg                                     <  1:1275353/71‑1 (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                                            <  1:1093968/60‑2 (MQ=255)
                                      gACACCCACACGTCGGTATAGATAAAGTCCGCGCCCTTAACGCCTGCCGCCACGTCTtcc                                            <  1:273483/60‑2 (MQ=255)
                                      gACACCCACACGTCGGTATAGATAAAGTCCGCGCCCTTAACGCCTGCCGCCACGTCTtcc                                            <  1:688040/60‑2 (MQ=255)
                                      gACACCCACACGTCGGTATAGATAAAGTCCGCGCCCTTAACGCCTGCCGCCACGTCTTCCGTCAGAGTaa                                  <  1:44697/70‑1 (MQ=255)
                                      gACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTaa                                  <  1:461701/70‑1 (MQ=255)
                                      gACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTaa                                  <  1:4719430/70‑1 (MQ=255)
                                      gACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTaa                                  <  1:5400366/70‑1 (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)
                                                      tataGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTaa                                  >  1:1914291/1‑54 (MQ=255)
                                                      tataGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTAATATTCCCACCATTTTGc                 <  1:5446279/71‑1 (MQ=255)
                                                       ataGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTaa                                  >  1:977362/1‑53 (MQ=255)
                                                       ataGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTaa                                  >  1:4385411/1‑53 (MQ=255)
                                                       ataGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTaa                                  >  1:2976931/1‑53 (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                                >  1:1609225/1‑50 (MQ=255)
                                                            tAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTAata                                >  1:1751562/1‑50 (MQ=255)
                                                            tAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTAata                                >  1:5605548/1‑50 (MQ=255)
                                                             aaaGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTAATATTCCCACCAttt                    >  1:3638643/1‑61 (MQ=255)
                                                             aaaGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTAATATTCCCACCATTTTGCTGTGc            >  1:2641868/1‑69 (MQ=255)
                                                             aaaGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTAATATTCCCACCATTTTGCTGTGc            >  1:2875830/1‑69 (MQ=255)
                                                              aaGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTAATATTCCCACCATTTTGCTGTGCCAg         >  1:606229/1‑71 (MQ=255)
                                                              aaGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTAATATTCCCACCATTTTGCTGTGCCAg         <  1:4492103/71‑1 (MQ=255)
                                                              aaGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTAATATTCCCACCATTTTGCTGTGCCAg         >  1:935351/1‑71 (MQ=255)
                                                                   aGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTAATATTCCCACCATTTTGCTGTGCCAGGgcgc    <  1:5380300/71‑1 (MQ=255)
                                                                   aGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTAATATTCCCACCATTTTGCTGTGCCAGGgcgc    >  1:1041422/1‑71 (MQ=255)
                                                                      aCCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTAATATTCCCACCATTTTGCTGTGCCAGGgc      <  1:5105152/66‑1 (MQ=255)
                                                                      aCCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTAATATTCCCACCATTTTGCTGTGCCAGGGCGCgg  <  1:35028/70‑1 (MQ=255)
                                                                      |                                                                     
CAATCCGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTAATATTCCCACCATTTTGCTGTGCCAGGGCGCGG  >  Exported/2918951‑2919090

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: