Predicted mutation
evidence seq id position mutation freq annotation gene description
RA Exported 2,918,757 A→C 15.9% V313V (GTT→GTG argI ← ornithine carbamoyltransferase 1

Read alignment evidence...
  seq id position ref new freq score (cons/poly) reads annotation genes product
*Exported2,918,7570AC15.9% 207.4 / 43.2 107V313V (GTT→GTGargIornithine carbamoyltransferase 1
Reads supporting (aligned to +/- strand):  ref base A (43/47);  new base C (13/4);  total (56/51)
Fisher's exact test for biased strand distribution p-value = 3.59e-02
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.69e-01

Only 100 of 116 total aligned reads displayed.

TTATTTACTGAGCGTCGCGACCATCACCGCTTTGATAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAGGCCAAATTCTTCCG  >  Exported/2918691‑2918827
                                                                  |                                                                      
  attTACTGAGCGTCGCGACCATCACCGCTTTGATAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATg                                                                  >  1:2060654/1‑71 (MQ=255)
   tttACTGAGCGTCGCGACCATCACCGCTTTGATAGTATGCATACGGTTTTCCGCCTGATAAAAAACAATg                                                                  <  1:4485733/70‑1 (MQ=255)
     tACTGAGCGTCGCGACCATCACCGCTTTGATAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCt                                                                <  1:5530519/70‑1 (MQ=255)
        caaGCGTTGCCATCATCACCGCCTTAATCGTATGCATCCGGTTTTCCGCCTGGTCGAACACGATGCTcgcc                                                            >  1:2189689/3‑70 (MQ=255)
         gAGCGTCGCGACCATCACCGCTTTGATAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTgg                                                              <  1:5353396/68‑1 (MQ=255)
         aaGCGTTGCCATCATCACCGCCTTAATCGTATGCATCCGGTTTTCCGCCTGGTCGAACACGATGCTcgccg                                                           >  1:4261758/2‑69 (MQ=255)
          aGCGTTGCCATCATCACCGCCTTAATCGTATGCATCCGGTTTTCCGCCTGGTCGAacac                                                                      <  1:1100466/59‑1 (MQ=255)
          aGCGTCGCGACCATCACCGCTTTGATAGTATGCATACGGTTTTCCGCCTGATCAAAAACaa                                                                    >  1:170761/1‑61 (MQ=255)
          aGCGTCGCGACCATCACCGCTTTGATAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTggcgg                                                           <  1:4542014/70‑1 (MQ=255)
          aGCGTCGCGACCATCACCGCTTTGATAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTggcgg                                                           >  1:4924839/1‑70 (MQ=255)
           gCGTCGCGACCATCACCGCTTTGATAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCa                                                         <  1:4845447/71‑1 (MQ=255)
            cGTCGCGACCATCACCGCTTTGATAGTATGCATACGGTTTTCCGCCTGATCaaaaa                                                                       >  1:757299/1‑56 (MQ=255)
            cGTCGCGACCATCACCGCTTTGATAGTATGCATACGGTTTTCCGCCTGATCaaaaa                                                                       >  1:4725549/1‑56 (MQ=255)
              gcgcgACCATCACCGCTTTGATAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCa                                                         <  1:4935280/67‑1 (MQ=255)
               cgcgACCATCACCGCTTTGATAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGAtt                                                     >  1:5627546/1‑71 (MQ=255)
                gcgACCATCACCGCTTTGATAGTATGCATACGGTTTTCCGCCTGATCAAAAACa                                                                     >  1:1689430/1‑54 (MQ=255)
                gcgACCATCACCGCTTTGATAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTc                                                    >  1:5537665/1‑71 (MQ=255)
                gcgACCATCACCGCTTTGATAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTc                                                    >  1:526949/1‑71 (MQ=255)
                   atcATCACCGCCTTAATCGTATGCATCCGGTTTTCCGCCTGGTCGAacac                                                                      <  1:5057015/48‑1 (MQ=255)
                    tcATCACCGCCTTAATCGTATGCATCCGGTTTTCCGCCTGGTCGAACACGATGCTCGCCGCCGACTCaaac                                                <  1:2630418/70‑2 (MQ=255)
                    tcATCACCGCCTTAATCGTATGCATCCGGTTTTCCGCCTCGTCGAACACGATGCTCGCCGCCGACTCaaac                                                <  1:4758191/70‑2 (MQ=255)
                     cATCACCGCTTTGATAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTc                                                    >  1:376165/1‑66 (MQ=255)
                     cATCACCGCTTTGATAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGaa                                                 >  1:1033733/1‑69 (MQ=255)
                     cATCACCGCCTTAATCGTATGCATCCGGTTTTCCGCCTGGTCGAACACGATGCTCGCCGCCGACTCaaaca                                               >  1:1793959/1‑69 (MQ=255)
                     cATCACCGCCTTAATCGTATGCATCCGGTTTTCCGCCTGGTCGAACACGATGCTCGCCGCCGACTCaaaca                                               >  1:3187916/1‑69 (MQ=255)
                     cATCACCGCCTTAATCGTATGCATCCGGTTTTCCGCCTGGTCGAACACGATGCTCGCCGCCGACTCaaaca                                               >  1:3081639/1‑69 (MQ=255)
                      aTCACCGCTTTGATAGTATGCATACGGTTTTCCGCCTGATCAAAAAc                                                                      <  1:4863370/47‑1 (MQ=255)
                      aTCACCGCTTTGATAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGAc                                              <  1:195660/71‑1 (MQ=255)
                      aTCACCGCTTTGATAGTATGCATACGGTTTTACGCCTGATCAAAAACAATGCTgg                                                              >  1:3327857/1‑55 (MQ=255)
                      aTCACCGCCTTAATCGTATGCATCCGGTTTTCCGCCTGGTCGAacacga                                                                    >  1:4012771/1‑47 (MQ=255)
                      aTCACCGCCTTAATCGTATGCATCCGGTTTTCCGCCTGGTCGAACACGATGCTCGCCGCCGACTCaaa                                                 >  1:1322001/1‑68 (MQ=255)
                      aTCACCGCCTTAATCGTATGCATCCGGTTTTCCGCCTGGTCGAACACGATGCTCGCCGCCGACTCAAacac                                              >  1:4587746/1‑71 (MQ=255)
                      aTCACCGCCTTAATCGTATGCATCCGGTTTTCCGCCTGGTCGAACACGATGCTCGCCGCCGACTCAAacac                                              >  1:1985400/1‑71 (MQ=255)
                         aCCGCTTTGATAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCt                                            <  1:4749531/70‑1 (MQ=255)
                         aCCGCTTTGATAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCt                                            <  1:2302600/70‑1 (MQ=255)
                          ccGCTTTGATAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCtca                                          <  1:447210/71‑1 (MQ=255)
                          ccGCCTTAATCGTATGCATCCGGTTTTCCGCCTGGTCGAACACGATGCTCGCCGCCGACTCAAACACCtcg                                          >  1:2910214/1‑70 (MQ=255)
                          ccGCCTTAATCGTATGCATCCGGTTTTCCGCCTGGTCGAACACGATGCTCGCCGCCGACTCAAACACCtcg                                          >  1:2938459/1‑70 (MQ=255)
                           cGCTTTGATAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCtcat                                         >  1:3119782/1‑71 (MQ=255)
                            gCTTTGATAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCt                                                                <  1:4946635/47‑1 (MQ=255)
                             cTTTGATAGTATTCATACGGTTTTCCGCCTGATCAAAAACaa                                                                    >  1:4833172/1‑42 (MQ=255)
                             cTTTGATAGTATGCATACGGTTTTCCGCCTGATCAAAAACaa                                                                    >  1:306636/1‑42 (MQ=255)
                              tttGATAGTATGCATACGGTTTTCCGCCTGATCAAAAAc                                                                      <  1:3987717/39‑1 (MQ=255)
                              tttGATAGTATGCATACGGTTTTCCGCCTGATCAAAAAc                                                                      <  1:674663/39‑1 (MQ=255)
                              tttGATAGTATGCATACGGTTTTCCGCCTGATCAAAAAc                                                                      <  1:1011809/39‑1 (MQ=255)
                              tttGATAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAg                                      >  1:2536734/1‑71 (MQ=255)
                                tGATAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGt                                     <  1:961524/70‑1 (MQ=255)
                                tGATAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGt                                     <  1:1198552/70‑1 (MQ=255)
                                 gATAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTg                                    <  1:3663839/70‑1 (MQ=255)
                                 gATAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTg                                    <  1:2907587/70‑1 (MQ=255)
                                  aTAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGAc                                  <  1:1445269/71‑1 (MQ=255)
                                  aTAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGAc                                  >  1:1402036/1‑71 (MQ=255)
                                   tAGTATCCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACt                                 <  1:5361374/71‑1 (MQ=255)
                                     gTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTc                               <  1:1345165/71‑1 (MQ=255)
                                     gTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTc                               <  1:3007956/71‑1 (MQ=255)
                                     gTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTc                               <  1:2635760/71‑1 (MQ=255)
                                       aTGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGaa                                                 >  1:5548068/1‑51 (MQ=255)
                                       aTGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGaa                                                 >  1:2568765/1‑51 (MQ=255)
                                        tGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCtcatca                                       <  1:4097790/60‑1 (MQ=255)
                                          cATCCGGTTTTCCGCCTGGTCGAACACGATGCTCGCCGCCGACTCAAACACCTCGTCCGTCACCTCCAtcc                          >  1:3895276/1‑69 (MQ=255)
                                           aTACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATAcc                         >  1:4716868/1‑71 (MQ=255)
                                            tACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTc                               <  1:3943634/64‑1 (MQ=255)
                                             ccGGTTTTCCGCCTGGTCGAACACGATGCTCGCCGCCGACTCAAACACCTCGTCCGTCACCTCCATCCCGc                       >  1:1221099/2‑71 (MQ=255)
                                              cGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGGCCTCATCAg                                      >  1:2695654/1‑55 (MQ=255)
                                              cGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCtca                                          >  1:5236522/1‑51 (MQ=255)
                                              cGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCtca                                          >  1:2192111/1‑51 (MQ=255)
                                              cGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCtca                                          >  1:5146430/1‑51 (MQ=255)
                                              cGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAg                                      >  1:2339251/1‑55 (MQ=255)
                                              cGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGc                       >  1:1584815/1‑70 (MQ=255)
                                              cGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGc                       >  1:2323733/1‑70 (MQ=255)
                                              cGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGc                       >  1:4756248/1‑70 (MQ=255)
                                              cGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGc                       >  1:2264626/1‑70 (MQ=255)
                                                 ttttCCGCCTGGTCGAACACGATGCTCGCCGCCGACTCAAACACCTCGTCCGTCACCTCCATCCCGCCGTg                   <  1:818793/71‑1 (MQ=255)
                                                 ttttCCGCCTGGTCGAACACGATGCTCGCCGCCGACTCAAACACCTCGTCCGTCACCTCCATCCCGCCGTg                   <  1:2992857/71‑1 (MQ=255)
                                                 ttttCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATg                   <  1:1080511/71‑1 (MQ=255)
                                                   ttCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATg                   >  1:627066/1‑69 (MQ=255)
                                                   ttCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGt                  <  1:1652947/70‑1 (MQ=255)
                                                   ttCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGt                  <  1:132974/70‑1 (MQ=255)
                                                   ttCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGt                  <  1:5079649/70‑1 (MQ=255)
                                                     ccGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTa                 <  1:2975957/69‑1 (MQ=255)
                                                     ccGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAg                <  1:3210685/70‑1 (MQ=255)
                                                        ccTGATCAAAAACAATGCTGGCGGCAGATTCGAAGAc                                              >  1:3574575/1‑37 (MQ=255)
                                                        ccTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAGGCCa            <  1:4915402/71‑1 (MQ=255)
                                                         cTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAGGCCa            >  1:4355450/1‑70 (MQ=255)
                                                           gATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGAc                                  <  1:1376599/46‑1 (MQ=255)
                                                            aTCAAAAACAATGCTGGCGGCAGATTCGAAGACCtcat                                         <  1:2498425/38‑1 (MQ=255)
                                                            aTCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTc                               <  1:879623/48‑1 (MQ=255)
                                                            aTCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGt                  <  1:3617310/61‑1 (MQ=255)
                                                            aTCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAGGCCAAAt         <  1:4201521/70‑1 (MQ=255)
                                                            aTCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAGGCCAAAt         >  1:2346855/1‑70 (MQ=255)
                                                              cAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGAc                                  >  1:885537/1‑43 (MQ=255)
                                                              cAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCa                             >  1:3819288/1‑48 (MQ=255)
                                                              cAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCa                             >  1:243394/1‑48 (MQ=255)
                                                              cAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCa                             >  1:4886503/1‑48 (MQ=255)
                                                              cAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAg                >  1:5607975/1‑61 (MQ=255)
                                                              cAAAAACAATGCTGGCGGCAGATTCGAAGACCTAATCAGTGACTTCCa                             >  1:5198671/1‑48 (MQ=255)
                                                               aaaaaCAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAgg               >  1:2195743/1‑61 (MQ=255)
                                                               aaaaaCAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAGGCCAAAttctt     >  1:1574564/1‑71 (MQ=255)
                                                               aaaaaCAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAGGCCAAAttctt     >  1:1040042/1‑71 (MQ=255)
                                                                  aaCAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAGGCCAAATTCTTCCg  >  1:2308722/1‑71 (MQ=255)
                                                                  |                                                                      
TTATTTACTGAGCGTCGCGACCATCACCGCTTTGATAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAGGCCAAATTCTTCCG  >  Exported/2918691‑2918827

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: