Predicted mutation
evidence seq id position mutation freq annotation gene description
RA Exported 2,919,207 A→G 27.7% G163G (GGT→GGC argI ← ornithine carbamoyltransferase 1

Read alignment evidence...
  seq id position ref new freq score (cons/poly) reads annotation genes product
*Exported2,919,2070AG27.7% 177.3 / 80.3 119G163G (GGT→GGCargIornithine carbamoyltransferase 1
Reads supporting (aligned to +/- strand):  ref base A (34/52);  new base G (17/16);  total (51/68)
Fisher's exact test for biased strand distribution p-value = 3.01e-01
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.37e-01

Only 100 of 122 total aligned reads displayed.

CCAGACGCAAATCCAGACCGGTAAGCGCCGCAGCTTCGAGCATCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCGGGCAAATGCTCCTGCATGGTGAGAAGATCCG  >  Exported/2919137‑2919277
                                                                      |                                                                      
ccAGACGCAAATCCAGACCGGTAAGCGCCGCAGCTTCGAGCATCGAATTGCCCATGTTGTTACGCGCGTCa                                                                        >  1:2192899/1‑71 (MQ=255)
ccAGACGCAAATCCAGACCGGTAAGCGCCGCAGCTTCGAGCATCGAATTGCCCATGTTGTTACGCGCGTCa                                                                        <  1:4247850/71‑1 (MQ=255)
  aggcGCAGATCCAGCCCGGTCAGCGCCGCCGCTTCCAGCATCGAGTTGCCCATGTTGTTGCGCGCATCGcc                                                                      >  1:145898/4‑71 (MQ=255)
  aggcGCAGATCCAGCCCGGTCAGCGCCGCCGCTTCCAGCATCGAGTTGCCCATGTTGTTGCGCGCATCGcc                                                                      >  1:4022555/4‑71 (MQ=255)
        aaaTCCAGACCGGTAAGCGCCGCAGCTTCGAGCATCGAATTGCCCATGTTGTTACGCGCGTCACCTGCa                                                                  >  1:1247361/1‑69 (MQ=255)
           tCCAGACCGGTAAGCGCCGCAGCTTCGAGCATCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGAc                                                             >  1:5153413/1‑71 (MQ=255)
            ccAGCCCGGTCAGCGCCGCCGCTTCCAGCATCGAGTTGCCCATGTTGTTGCGCGCATCGCCCGCGTAGAc                                                             >  1:4885901/1‑70 (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)
                aCCGGTAAGCGCCGCAGCTTCGAGCATCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCg                                                        <  1:4957157/71‑1 (MQ=255)
                 ccGGTAAGCGCCGCAGCTTCGAGCATCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCg                                                        <  1:4517453/70‑1 (MQ=255)
                    gtcaGCGCCGCCGCTTCCAGCATCGAGTTGCCCATGTTGTTGCGCGCATCGCCCGCGTAGACCAGCGt                                                       <  1:2424723/65‑1 (MQ=255)
                    gtcaGCGCCGCCGCTTCCAGCATCGAGTTGCCCATGTTGTTGCGCGCATCGCCCGCGTAGACCAGCGt                                                       <  1:1107373/65‑1 (MQ=255)
                     tcaGCGCCGCCGCTTCCAGCATCGAGTTGCCCATGTTGTTGCGCGCATCGCCCGCGTAGACCAGCGTCAtc                                                   <  1:1755994/69‑2 (MQ=255)
                     tcaGCGCCGCCGCTTCCAGCATCGAGTTGCCCATGTTGTTGCGCGCATCGCCCGCGTAGACCAGCGTCAtc                                                   >  1:2944657/3‑70 (MQ=255)
                       aGCGCCGCCGCTTCCAGCATCGAGTTGCCCATGTTGTTGCGCGCATCGCCCGCGTAGACCAGCGTCAtctc                                                 <  1:792831/71‑1 (MQ=255)
                       aGCGCCGCAGCTTCGAGCATCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTc                                                 >  1:813929/1‑71 (MQ=255)
                          gccgcAGCTTCGAGCATCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTc                                                 <  1:851775/68‑1 (MQ=255)
                           ccgccgCTTCCAGCATCGAGTTGCCCATGTTGTTGCGCGCATCGCCCGCGTAGACCAGCGTCATCTCGtta                                             <  1:4529423/71‑2 (MQ=255)
                            cgccgcTTCCAGCATCGAGTTGCCCATGTTGTTGCGCGCATCGCCCGCGTAGACCAGCGTCATCTCGtta                                             <  1:2074957/70‑2 (MQ=255)
                                 cTTCGAGCATCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCt                                       <  1:5233290/71‑1 (MQ=255)
                                 cTTCGAGCATCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCt                                       <  1:3143561/71‑1 (MQ=255)
                                 cTTCGAGCATCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCt                                       <  1:4436257/71‑1 (MQ=255)
                                 cTTCGAGCATCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGGCAt                                                    <  1:3973324/58‑1 (MQ=255)
                                    cGAGCATCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTg                                    >  1:3881427/1‑71 (MQ=255)
                                    cGAGCATCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTg                                    >  1:659017/1‑71 (MQ=255)
                                     gAGCATCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGc                                   >  1:2560428/1‑71 (MQ=255)
                                     gAGCATCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGc                                   >  1:4409404/1‑71 (MQ=255)
                                     gAGCATCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGc                                   >  1:3463588/1‑71 (MQ=255)
                                     caGCATCGAGTTGCCCATGTTGTTGCGCGCATCGCCCGCGTAGACCAGCGTCATCTCGTTAAACGCCTTga                                   >  1:3453267/2‑70 (MQ=255)
                                      aGCATCGAGTTGCCCATGTTGTTGCGCGCATCGCCCGCGTAGACCAGCGTCATCTCGtta                                             <  1:20650/60‑2 (MQ=255)
                                      aGCATCGAGTTGCCCATGTTGTTGCGCGCATCGCCCGCGTAGACCAGCGTCATCTCGTTAAACGCCTTGc                                   <  1:3308479/70‑1 (MQ=255)
                                      aGCATCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGcc                                  <  1:3209364/71‑1 (MQ=255)
                                       gCATCGAGTTGCCCATGTTGTTGCGCGCATCGCCCGcg                                                                  <  1:3255058/38‑2 (MQ=16)
                                         aTCGAGTTGCCCATGTTGTTGCGCGCATCGCCCGCGTAGACCAGCGTCATCTCGTTAAACGCCTTGCCcgg                               <  1:4243788/71‑1 (MQ=255)
                                         aTCGAGTTGCCCATGTTGTTGCGCGCATCGCCCGCGTAGACCAGCGTCATCTCGTTAAACGCCTTGCCcgg                               <  1:5507909/71‑1 (MQ=255)
                                          tCGAGTTGCCCATGTTGTTGCGCGCATCGCCCGCGTAGACCa                                                           >  1:5395084/1‑42 (MQ=16)
                                          tCGAGTTGCCCATGTTGTTGCGCGCATCGCCCGCGTAGACCAGCGTCATCTCGTTAAACGCCTTGCCcgg                               >  1:5584906/1‑70 (MQ=255)
                                          tCGAATTGCCCGTGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCggg                               >  1:4874228/1‑70 (MQ=255)
                                          tCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAg                                                               <  1:4465935/38‑1 (MQ=255)
                                          tCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAg                                                               <  1:510150/38‑1 (MQ=255)
                                          tCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAg                                                               <  1:2038924/38‑1 (MQ=255)
                                          tCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCttt                                     <  1:4486841/64‑1 (MQ=255)
                                          tCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCttt                                     <  1:921967/64‑1 (MQ=255)
                                          tCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCttt                                     <  1:1921360/64‑1 (MQ=255)
                                           cGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCAttt                                                  >  1:4026614/1‑50 (MQ=255)
                                            gagttGCCCATGTTGTTGCGCGCATCGCCCGCGTAGACCAGCGTCATCTCGTTAAACGCCTTGCCcgg                               >  1:1837444/4‑68 (MQ=255)
                                            gagttGCCCATGTTGTTGCGCGCATCGCCCGCGTAGACCAGCGTCATCTCGTTAAACGCCTTGCCcgg                               >  1:4565363/4‑68 (MQ=255)
                                            gAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGaa                                           >  1:4046558/1‑56 (MQ=255)
                                            gAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGaa                                           >  1:4053313/1‑56 (MQ=255)
                                            gAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGaa                                           >  1:2783816/1‑56 (MQ=255)
                                            gAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCGGGCa                             >  1:4089195/1‑70 (MQ=255)
                                            gAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCGGGCa                             <  1:4625081/70‑1 (MQ=255)
                                             aaTTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTg                                             <  1:1329905/53‑1 (MQ=255)
                                              aTTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCGGGCAAAt                          >  1:1202170/1‑71 (MQ=255)
                                               ttGCCCATGTTGTTACGCGGGTCACCTGCATAGACCAGCGTCATTTCGtt                                              <  1:2024114/50‑1 (MQ=255)
                                               ttGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGtt                                              <  1:3869899/50‑1 (MQ=255)
                                               ttGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGtt                                              <  1:1552780/50‑1 (MQ=255)
                                               ttGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGtt                                              <  1:2077308/50‑1 (MQ=255)
                                                tGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCGGGCAAATGc                        >  1:663767/1‑71 (MQ=255)
                                                 gCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCGGGCAAATGc                        <  1:181489/70‑1 (MQ=255)
                                                 gCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCGGGCAAATGc                        <  1:3308099/70‑1 (MQ=255)
                                                 gCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCGGGCAAATGc                        <  1:3273038/70‑1 (MQ=255)
                                                 gCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCGGGCAAATGCt                       >  1:5246231/1‑71 (MQ=255)
                                                    cATGTTGTTGCGCGCATCGCCCGCGTAGACCAGCGTc                                                      <  1:1559139/37‑1 (MQ=16)
                                                    cATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCGGGCAAATGCTCCt                    <  1:1725906/71‑1 (MQ=255)
                                                     aTGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCgg                                <  1:4587879/58‑1 (MQ=255)
                                                     aTGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCgg                                <  1:760622/58‑1 (MQ=255)
                                                      tgttgtTACGCGCGTCACCTGCATAGACCAGCGTCATTTc                                                 <  1:4227771/40‑1 (MQ=255)
                                                      tgttgtTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTg                                             <  1:708782/44‑1 (MQ=255)
                                                      tgttgtTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGc                                        <  1:5447560/49‑1 (MQ=255)
                                                      tgttgtTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGcc                                  <  1:2221004/55‑1 (MQ=255)
                                                      tgttgtTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCGGGCAAATGCTc                      <  1:5407096/67‑1 (MQ=255)
                                                      tgttgtTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCGGGCAAATGCTCCTg                   >  1:4613013/1‑70 (MQ=255)
                                                      tgttgtTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCGGGCAAATGCTCCTGc                  <  1:2808378/71‑1 (MQ=255)
                                                       gttgttACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGa                                            <  1:759527/44‑1 (MQ=255)
                                                       gttgttACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGa                                            <  1:2684960/44‑1 (MQ=255)
                                                        ttgttACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCGGGCaaa                           >  1:3554266/1‑60 (MQ=255)
                                                        ttgttACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCGGGCa                             <  1:4470762/58‑1 (MQ=255)
                                                        ttgttACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCGGGCAAATGCTc                      >  1:1514884/1‑65 (MQ=255)
                                                        ttgttACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCGGGCAAATGCTc                      >  1:4593094/1‑65 (MQ=255)
                                                        ttgttACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCGGGCAAATGCTCCTGCa                 <  1:5141844/70‑1 (MQ=255)
                                                         tgttGCGCGCATCGCCCGCGTAGACCAGCGTCATCTCGTTAAACGCCTTGCCCGGCAGGTGCTCCTGCATg               >  1:3016110/1‑71 (MQ=255)
                                                         tgttGCGCGCATCGCCCGCGTAGACCAGCGTCATCTCGTTAAACGCCTTGCCCGGCAGGTGCTCCTGCATg               >  1:911300/1‑71 (MQ=255)
                                                         tgttGCGCGCATCGCCCGCGTAGACCAGCGTCATCTCGTTAAACGCCTTGCCCGGCAGGTGCTCCTGCATg               >  1:2632796/1‑71 (MQ=255)
                                                         tgttACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCgg                                <  1:373920/54‑1 (MQ=255)
                                                          gttGCGCGCATCGCCCGCGTAGACCAGCGTCATCTCGTTAAACGCCTTGCCCGGCAGGTGCt                       >  1:647392/1‑62 (MQ=255)
                                                           ttACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCGGGCAAATGCTCCTGCATTGt             <  1:2013748/71‑1 (MQ=255)
                                                            tACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCGGGCAAATGCTCCTGCATGGt             >  1:3598803/1‑70 (MQ=255)
                                                             gcgcgcaTCGCCCGCGTAGACCAGCGTCATCTCGTTAAACGCCTTGCCCGGCAGGTGCTCCTGCATGGtca           >  1:650508/2‑69 (MQ=255)
                                                              cgcgcaTCGCCCGCGTAGACCAGCGTCATCTCGTTAAACGCCTTGCCCGGCAGGTGCTCCTGCATGGtca           <  1:846672/70‑3 (MQ=255)
                                                               gcgcgTCACGTGCATAGACCAGCGTCATTTCGTTGTACGCt                                       <  1:3950997/41‑1 (MQ=38)
                                                                   gTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCGGGCAAATGCTCCTGCATGGTGAGAAGAt     <  1:4850782/71‑1 (MQ=255)
                                                                     cACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCGGGCAAATGCTCCTg                   <  1:3114670/55‑1 (MQ=255)
                                                                     cACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCGGGCAAATGCTCCTGCATGGTGAGAAGATcc   >  1:2351368/1‑71 (MQ=255)
                                                                      aCCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCGGGCAAATGCTCCTGCATGGTGAGAAGATCCg  >  1:1206329/1‑71 (MQ=255)
                                                                      |                                                                      
CCAGACGCAAATCCAGACCGGTAAGCGCCGCAGCTTCGAGCATCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCGGGCAAATGCTCCTGCATGGTGAGAAGATCCG  >  Exported/2919137‑2919277

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: