Predicted mutation
evidence seq id position mutation freq annotation gene description
RA Exported 2,919,174 G→C 17.2% L174L (CTC→CTG argI ← ornithine carbamoyltransferase 1

Read alignment evidence...
  seq id position ref new freq score (cons/poly) reads annotation genes product
*Exported2,919,1740GC17.2% 232.6 / 36.8 99L174L (CTC→CTGargIornithine carbamoyltransferase 1
Reads supporting (aligned to +/- strand):  ref base G (37/45);  new base C (9/8);  total (46/53)
Fisher's exact test for biased strand distribution p-value = 6.01e-01
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 6.02e-01

Only 100 of 103 total aligned reads displayed.

GCAGCTTCCGGCCAGCACGCTTGTGGCGCGACCAGACGCAAATCCAGACCGGTAAGCGCCGCAGCTTCGAGCATCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGC  >  Exported/2919106‑2919244
                                                                    |                                                                      
gcAGCTTCCGGCCAGCACGCTTGTGGCGCGACCAGACGCAAATCCAGACCGGTAAGCGCCGCAGCTTCGAg                                                                      >  1:5111592/1‑71 (MQ=255)
gcAGCTTCCGGCCAGCACGCTTGTGGCGCGACCAGACGCAAATCCAGACCGGTAAGCGCCGCAGCTTCGAg                                                                      <  1:5087372/71‑1 (MQ=255)
 cAGCTTCCGGCCAGCACGCTTGTGGCGCGACCAGACGCAAATCCAGACCGGTAAGCGCCGCAGCTTCGAGc                                                                     <  1:411781/71‑1 (MQ=255)
  aGCTTCCGGCCAGCACGCTTGTGGCGCGACCAGACGCAAATCCAGACCGGTAAGCGCCGCAGCTTCGAGc                                                                     <  1:337225/70‑1 (MQ=255)
    cTTCCGGCCAGCACGCTTGTGGCGCGACCAGACGCAAATCCAGACCGGTAAGCGCCGCAGCTTCGAGCATc                                                                  <  1:4057083/71‑1 (MQ=255)
    cTTCCGGCCAGCACGCTTGTGGCGCGACCAGACGCAAATCCAGACCGGTAAGCGCCGCAGCTTCGAGCATc                                                                  <  1:4592968/71‑1 (MQ=255)
      tCCGGCCAGCACGCTTGTGGCGCGACCAGACGCAAATCCAGACCGGTAAGCGCCGCAGCTTCGAGCATCg                                                                 >  1:2610127/1‑70 (MQ=255)
      tCCGGCCAGCACGCTTGTGGCGCGACCAGACGCAAATCCAGACCGGTAAGCGCCGCAGCTTCGAGCATCg                                                                 >  1:1020328/1‑70 (MQ=255)
       ccGGCCAGCACGCTTGTGGCGCGACCAGACGCAAATCCAGACCGGTAAGCGCCGCAGCTTCGAGCATCg                                                                 <  1:2474691/69‑1 (MQ=255)
       ccGGCCAGCACGCTTGTGGCGCGACCAGACGCAAATCCAGACCGGTAAGCGCCGCAGCTTCGAGCATCg                                                                 <  1:2083383/69‑1 (MQ=255)
          gCCAGCACGCTTGTGGCGCGACCAGACGCAAATCCAGACCGGTAAGCGCCGCAGCTTCGAGCATCGAATTg                                                            >  1:1937484/1‑71 (MQ=255)
             aGCACGCTTGTGGCGCGACCAGACGCAAATCCAGACCGGTAAGCGCCGCAGCTTCGAGCATCGAATTGcc                                                          >  1:2888603/1‑70 (MQ=255)
               cACGCTTGTGGCGCGACCAGACGCAAATCCAGACCGGTAAGCGCCGCAGCTTCGAGCATCGAATTGCCCAt                                                       <  1:5379770/71‑1 (MQ=255)
               cACGCTTGTGGCGCGACCAGACGCAAATCCAGACCGGTAAGCGCCGCAGCTTCGAGCATCGAATTGCCCAt                                                       >  1:4871008/1‑71 (MQ=255)
                aCGCTTGTGGCGCGACCAGACGCAAATCCAGCCCGGTAAGCGCCGCAGCTTCGAGCATCGatt                                                              >  1:4609110/1‑61 (MQ=255)
                aCGCTTGTGGCGCGACCAGACGCAAATCCAGACCGGTAAGCGCCGCAGCTTCGa                                                                       <  1:3764684/54‑1 (MQ=255)
                aCGCTTGTGGCGCGACCAGACGCAAATCCAGACCGGTAAGCGCCGCAGCTTCGAGCATCGAATTGCCCAtg                                                      >  1:828795/1‑71 (MQ=255)
                aCGCTTGTGGCGCGACCAGACGCAAATCCAGACCGGTAAGCGCCGCAGCTTCGAGCATCGAATTGCCCAtg                                                      >  1:5530071/1‑71 (MQ=255)
                  gCTTGTGGCGCGACCAGACGCAAATCCAGACCGGTAAGCGCCGCAGCTTCGAGCATCGAATTGCCCAtgtt                                                    <  1:2760971/71‑1 (MQ=255)
                   cTTGTGGCGCGACCAGACGCAAATCCAGACCGGTAAGCGCCGCAGCTTCGAGCATCGAATTGCCCAtgttg                                                   >  1:2830975/1‑71 (MQ=255)
                   cTTGTGGCGCGACCAGACGCAAATCCAGACCGGTAAGCGCCGCAGCTTCGAGCATCGAATTGCCCAtgttg                                                   >  1:5289647/1‑71 (MQ=255)
                   cTTGTGGCGCGACCAGACGCAAATCCAGACCGGTAAGCGCCGCAGCTTCGAGCATCGAATTGCCCAtgttg                                                   <  1:2172423/71‑1 (MQ=255)
                   cTTGTGGCGCGACCAGACGCAAATCCAGACCGGTAAGCGCCGCAGCTTCGAGCATCGAATTGCCCAtgttg                                                   >  1:4587517/1‑71 (MQ=255)
                   cTTGTGGCGCGACCAGACGCAAATCCAGACCGGTAAGCGCCGCAGCTTCGAGCATCGAATTGCCCAtgttg                                                   <  1:5221718/71‑1 (MQ=255)
                    ttGTGGCGCGACCAGACGCAAATCCAGACCGGTAAGCGCCGCAGCTTCGAGCATCGAATTGCCCAtgttgt                                                  >  1:1687036/1‑71 (MQ=255)
                      gtgGCGCGACCAGACGCAAATCCAGACCGGTAAGCGCCGCAGCTTCGAGCATCGAATTGCCCAtgttgt                                                  <  1:119926/69‑1 (MQ=255)
                      gtgGCGCGACCAGACGCAAATCCAGACCGGTAAGCGCCGCAGCTTCGAGCATCGAATTGCCCAtgttgt                                                  <  1:4248099/69‑1 (MQ=255)
                      gtgGCGCGACCAGACGCAAATCCAGACCGGTAAGCGCCGCAGCTTCGAGCATCGAATTGCCCAtgttgt                                                  <  1:1535094/69‑1 (MQ=255)
                      gtgGCGCGACCAGACGCAAATCCAGACCGGTAAGCGCCGCAGCTTCGAGCATCGAATTGCCCAtgttgt                                                  <  1:3077901/69‑1 (MQ=255)
                      gtgGCGCGACCAGACGCAAATCCAGACCGGTAAGCGCCGCAGCTTCGAGCATCGAATTGCCCAt                                                       >  1:3904542/1‑64 (MQ=255)
                      gtgGCGCGACCAGACGCAAATCCAGACCGGTAAGCGCCGCAGCTTCGAGCATCGAATTGCCCATgttgtt                                                 <  1:4070067/70‑1 (MQ=255)
                      gtgGCGCGACCAGACGCAAATCCAGACCGGTAAGCGCCGCAGCTTCGAGCATCGAATTGCCCATGTTGTTa                                                >  1:4634735/1‑71 (MQ=255)
                      gtgGCGCGACCAGACGCAAATCCAGACCGGTAAGCGCCGCAGCTTCGAGCATCGAATTGCCCATGTTGTTa                                                >  1:4052399/1‑71 (MQ=255)
                       tgGCGCGACCAGACGCAAATCCAGACCGGTAAGCGCCGCAGCTTCGAGCATCGAATTGCCCATGTTGTTa                                                <  1:2505141/70‑1 (MQ=255)
                         gcgcGACCAGACGCAAATCCAGACCGGTAAGCGCCGCAGCTTCGAGCATCGAATTGCCCATGTTGTTAcgc                                             >  1:2493851/1‑71 (MQ=255)
                         gcgcGACCAGACGCAAATCCAGACCGGTAAGCGCCGCAGCTTCGAGCATCGAATTGCCCATGTTGTTAc                                               >  1:4584176/1‑69 (MQ=255)
                          cgcgACCAGACGCAAATCCAGACCGGTAAGCGCCGCAGCTTCGAGCATCGaa                                                               >  1:755987/1‑52 (MQ=255)
                          cgcgACCAGACGCAAATCCAGACCGGTAAGCGCCGCAGCTTCGAGCATCGaa                                                               >  1:373128/1‑52 (MQ=255)
                          cgcgACCAGACGCAAATCCAGACCGGTAAGCGCCGCAGCTTCGAGCATCGaa                                                               >  1:3877262/1‑52 (MQ=255)
                          cgcgACCAGACGCAAATCCAGACCGGTAAGCGCCGCAGCTTCGAGCATCGaa                                                               >  1:2428705/1‑52 (MQ=255)
                              aacAGGCGCAGATCCAGCCCGGTCAGCGCCGCCGCTTCCAGCATCGAGTTGCCCATGTTGTTGCGCGCATc                                        <  1:5358180/69‑1 (MQ=255)
                               ccAGACGCAAATCCAGACCGGTAAGCGCCGCAGCTTCGAGCATCGAATTGCCCATGTTGTTACGCGCGTCa                                       <  1:4247850/71‑1 (MQ=255)
                               ccAGACGCAAATCCAGACCGGTAAGCGCCGCAGCTTCGAGCATCGAATTGCCCATGTTGTTACGCGCGTCa                                       >  1:2192899/1‑71 (MQ=255)
                               acAGGCGCAGATCCAGCCCGGTCAGCGCCGCCGCTTCCAGCATCGAGTTGCCCATgttgttg                                                <  1:3921175/61‑2 (MQ=255)
                                 aggcGCAGATCCAGCCCGGTCAGCGCCGCCGCTTCCAGCATCGAGTTGCCCATGTTGTTGCGCGCATCGcc                                     >  1:4022555/4‑71 (MQ=255)
                                 aggcGCAGATCCAGCCCGGTCAGCGCCGCCGCTTCCAGCATCGAGTTGCCCATGTTGTTGCGCGCATCGcc                                     >  1:145898/4‑71 (MQ=255)
                                 aGACGCAAATCCAGACCGGTAAGCGCCGCAGCTTCGAGCATCg                                                                 <  1:4424143/43‑1 (MQ=255)
                                 aGACGCAAATCCAGACCGGTAAGCGCCGCAGCTTCGAGCATCg                                                                 <  1:2946224/43‑1 (MQ=255)
                                  gACGCAAATCCAGACCGGTAAGCGCCGCAGCTTCGAGCATCg                                                                 <  1:3100102/42‑1 (MQ=255)
                                     gCAAATCCAGACCGGTAAGCGCCGCAGCTTCGAGCATCGAAtt                                                             >  1:2304925/1‑43 (MQ=255)
                                       agaTCCAGCCCGGTCAGCGCCGCCGCTTCCAGCATCGAGTTGCCCATGTTGTTGCGCGCATCGCCCGcg                                 >  1:5596632/3‑68 (MQ=255)
                                       aaaTCCAGACCGGTAAGCGCCGCAGCTTCGAGCATCGAATTGCCCATGTTGTTACGCGCGTCACCTGCa                                 >  1:1247361/1‑69 (MQ=255)
                                          tCCAGACCGGTAAGCGCCGCAGCTTCGAGCATCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGAc                            >  1:5153413/1‑71 (MQ=255)
                                           ccAGCCCGGTCAGCGCCGCCGCTTCCAGCATCGAGTTGCCCATgttgttgc                                               >  1:4820228/1‑49 (MQ=21)
                                           ccAGCCCGGTCAGCGCCGCCGCTTCCAGCATCGAGTTGCCCATgttgttg                                                >  1:3076390/1‑49 (MQ=25)
                                           ccAGCCCGGTCAGCGCCGCCGCTTCCAGCATCGAGTTGCCCATGTTGTTGCGCGCATCGCCCGCGTAGAc                            >  1:4885901/1‑70 (MQ=255)
                                           ccAGACCGGTAAGCGCCGCAGCTTCGAGCATCGaa                                                               >  1:1031895/1‑35 (MQ=255)
                                           ccAGACCGGTAAGCGCCGCAGCTTCGAGCATCGaa                                                               >  1:1204862/1‑35 (MQ=255)
                                           ccAGACCGGTAAGCGCCGCAGCTTCGAGCATCGaa                                                               >  1:2162195/1‑35 (MQ=255)
                                           ccAGACCGGTAAGCGCCGCAGCTTCGAGCATCGAATTGCCCAtgtt                                                    <  1:49549/46‑1 (MQ=255)
                                            cAGACCGGTAAGCGCCGCAGCTTCGAGCATCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGAcc                           <  1:445215/70‑1 (MQ=255)
                                            cAGACCGGTAAGCGCCGCAGCTTCGAGCATCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCa                          <  1:4250852/71‑1 (MQ=255)
                                            cAGACCGGTAAGCGCCGCAGCTTCGAGCATCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCa                          <  1:4257598/71‑1 (MQ=255)
                                             aGACCGGTAAGCGCCGCAGCTTCGAGGATCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAg                              <  1:2021795/66‑1 (MQ=255)
                                             aGACCGGTAAGCGCCGCAGCTTCGAGCATCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAg                              <  1:1841464/66‑1 (MQ=255)
                                             aGACCGGTAAGCGCCGCAGCTTCGAGCATCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAg                         >  1:2108848/1‑71 (MQ=255)
                                              gACCGGTAAGCGCCGCAGCTTCGAGCATCGAATTGCCCATGTTGTTAc                                               <  1:4521722/48‑1 (MQ=255)
                                               aCCGGTAAGCGCCGCAGCTTCGAGCATCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCg                       <  1:4957157/71‑1 (MQ=255)
                                                ccGGTAAGCGCCGCAGCTTCGAGCATCGAATTGCCCAtgttgt                                                  >  1:562637/1‑43 (MQ=255)
                                                ccGGTAAGCGCCGCAGCTTCGAGCATCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCg                       <  1:4517453/70‑1 (MQ=255)
                                                  ggTAAGCGCCGCAGCTTCGAGCATCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCa                    <  1:1348139/71‑1 (MQ=255)
                                                   gtcaGCGCCGCCGCTTCCAGCATCGAGTTGCCCATGTTGTTGCGCGCATCGCCCGCGTAGACCAGCGt                      <  1:2424723/65‑1 (MQ=255)
                                                   gtcaGCGCCGCCGCTTCCAGCATCGAGTTGCCCATGTTGTTGCGCGCATCGCCCGCGTAGACCAGCGt                      <  1:1107373/65‑1 (MQ=255)
                                                   gTAAGCGCCGCAGCTTCGAGCATCGAATTGCCCAtgttgt                                                  <  1:148470/40‑1 (MQ=255)
                                                   gTAAGCGCCGCAGCTTCGAGCATCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCAt                   >  1:3223895/1‑71 (MQ=255)
                                                    tcaGCGCCGCCGCTTCCAGCATCGAGTTGCCCATGTTGTTGCGCGCATCGCCCGCGTAGACCAGCGTCAtc                  >  1:2944657/3‑70 (MQ=255)
                                                    tcaGCGCCGCCGCTTCCAGCATCGAGTTGCCCATGTTGTTGCGCGCATCGCCCGCGTAGACCAGCGTCAtc                  <  1:1755994/69‑2 (MQ=255)
                                                    tAAGCGCCGCAGCTTCGAGCATCGAATTGCCCATGTTGTTAcg                                              <  1:3545084/43‑1 (MQ=255)
                                                    tAAGCGCCGCAGCTTCGAGCATCGAATTGCCCATGTTGTTAcg                                              <  1:2150774/43‑1 (MQ=255)
                                                      aGCGCCGCCGCTTCCAGCATCGAGTTGCCCATGTTGTTGCGCGCATCGCCCGCGTAGACCAGCGTCAtctc                <  1:792831/71‑1 (MQ=255)
                                                      aGCGCCGCAGCTTCGAGCATCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTc                >  1:826624/1‑71 (MQ=255)
                                                      aGCGCCGCAGCTTCGAGCATCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTc                >  1:813929/1‑71 (MQ=255)
                                                         gccgcAGCTTCGAGCATCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGtt             >  1:1749934/1‑71 (MQ=255)
                                                          ccgccgCTTCCAGCATCGAGTTGCCCATGTTGTTGCGCGCATc                                        >  1:849816/1‑43 (MQ=19)
                                                          ccgccgCTTCCAGCATCGAGTTGCCCATGTTGTTGCGCGCATc                                        >  1:4913882/1‑43 (MQ=19)
                                                          ccgccgCTTCCAGCATCGAGTTGCCCATGTTGTTGCGCGCATCGCCCGCGTAGACCAGCGTCATCTCGtta            <  1:4529423/71‑2 (MQ=255)
                                                           cgccgcTTCCAGCATCGAGTTGCCCATGTTGTTGCGCGCATCGCCCGCGTAGACCAGCGTCATCTCGtta            <  1:2074957/70‑2 (MQ=255)
                                                            gcAGCTTCGAGCATCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGaa          <  1:4850436/71‑1 (MQ=255)
                                                                cTTCGAGCATCGAATTGCCCATGTTGTTACGCGCGTc                                        <  1:1126282/37‑1 (MQ=255)
                                                                cTTCGAGCATCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCt      <  1:5233290/71‑1 (MQ=255)
                                                                cTTCGAGCATCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCt      <  1:4436257/71‑1 (MQ=255)
                                                                cTTCGAGCATCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCt      <  1:3830421/71‑1 (MQ=255)
                                                                cTTCGAGCATCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCt      <  1:3143561/71‑1 (MQ=255)
                                                                cTTCGAGCATCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGGCAt                   <  1:3973324/58‑1 (MQ=255)
                                                                   cGAGCATCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTg   >  1:3881427/1‑71 (MQ=255)
                                                                   cGAGCATCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTg   >  1:659017/1‑71 (MQ=255)
                                                                    gAGCATCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGc  >  1:4409404/1‑71 (MQ=255)
                                                                    gAGCATCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGc  >  1:3463588/1‑71 (MQ=255)
                                                                    gAGCATCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGc  >  1:2560428/1‑71 (MQ=255)
                                                                    gAGCATCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACAAGCGTCATTTCGTTGAACGATTTGc  >  1:2598751/1‑71 (MQ=255)
                                                                    |                                                                      
GCAGCTTCCGGCCAGCACGCTTGTGGCGCGACCAGACGCAAATCCAGACCGGTAAGCGCCGCAGCTTCGAGCATCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGC  >  Exported/2919106‑2919244

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: