Predicted mutation
evidence seq id position mutation freq annotation gene description
RA Exported 189,463 G→A 12.1% Q320Q (CAG→CAA ldcC → lysine decarboxylase 2, constitutive

Read alignment evidence...
  seq id position ref new freq score (cons/poly) reads annotation genes product
*Exported189,4630GA12.1% 256.0 / 20.4 99Q320Q (CAG→CAAldcClysine decarboxylase 2, constitutive
Reads supporting (aligned to +/- strand):  ref base G (55/32);  new base A (8/4);  total (63/36)
Fisher's exact test for biased strand distribution p-value = 1.00e+00
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 7.98e-01

CCGGTTCATGCGGTGATCACCAACTCCACCTATGATGGCTTGCTCTACAACACCGACTGGATCAAACAGACGCTGGATGTCCCGTCGATTCACTTCGATTCTGCCTGGGTGCCGTACACCCATTTTCATCCGATCTA  >  Exported/189395‑189531
                                                                    |                                                                    
ccGGTTCATGCGGTGATCACCAACTCCACCTATGATGGCTTGCTCTACAACACCGACTGGATCAAACAGAc                                                                    >  1:1621106/1‑71 (MQ=255)
    ttCATGCGGTGATCACCAACTCCACCTATGATGGCTTGCTCTACAACACCGACTGGATCAAACAGACGCTg                                                                >  1:338588/1‑71 (MQ=255)
     tCATGCGGTGATCACCAACTCCACCTATGATGGCTTGCTCTACAACACCGACTGGATCAAACAGACGCTg                                                                >  1:4337910/1‑70 (MQ=255)
      cATGCTGTAATTACCAACTCTACCTATGATGGTCTGCTGTACAACACCGACTTCATCAAGAAAACACTGGa                                                              <  1:5363489/71‑1 (MQ=255)
      cATGCTGTAATTACCAACTCTACCTATGATGGTCTGCTGTACAACACCGACTTCATCAAGAAAACACTGGa                                                              <  1:1329826/71‑1 (MQ=255)
      cATGCTGTAATTACCAACTCTACCTATGATGGTCTGCTGTACAACACCGACTTCATCAAGAAAACACTGGa                                                              >  1:5507862/1‑71 (MQ=255)
      cATGCGGTGATCACCAACTCCACCTATGATGGCTTGCTCTACAACACCGACTGGATCAAACAGACGCTGGa                                                              >  1:4167162/1‑71 (MQ=255)
          cGGTGATCACCAACTCCACCTATGATGGCTTGCTCTACAACACCGACTGGATCAAACAGACGCtt                                                                <  1:1216458/65‑2 (MQ=255)
             tGATCACCAACTCCACCTATGATGGCTTGCTCTACAACACCGACTGGATCAAACAGACGCTGGATGTCCCg                                                       >  1:5152287/1‑71 (MQ=255)
             tGATCACCAACTCCACCTATGATGGCTTGCTCTACAACACCGACTGGATCAAACAGACGCTGGATGTCCCg                                                       >  1:4888144/1‑71 (MQ=255)
               aTCACCAACTCCACCTATGATGGCTTGCTCTACAACACCGACTGGATCAAACAGACGCTGGATGTCCCGTc                                                     <  1:2132984/71‑1 (MQ=255)
                  aCCAACTCCACCTATGATGGCTTGCTCTACAACACCGACTGGATCAAACAGACGCTg                                                                <  1:1774295/57‑1 (MQ=255)
                  aCCAACTCCACCTATGATGGCTTGCTCTACAACACCGACTGGATCAAACAGACGCTg                                                                <  1:4434977/57‑1 (MQ=255)
                  aCCAACTCCACCTATGATGGCTTGCTCTACAACACCGACTGGATCAAACAGACGCTg                                                                <  1:4767132/57‑1 (MQ=255)
                  aCCAACTCCACCTATGATGGCTTGCTCTACAACACCGACTGGATCAAACAGACCCTg                                                                <  1:2794207/57‑1 (MQ=255)
                   ccAACTCCACCTATGATGGCTTGCTCTACAACACCGACTTGATCAAACAGACGCTGGATGTCCCGTCGAt                                                  >  1:2398691/1‑70 (MQ=255)
                   ccAACTCCACCTATGATGGCTTGCTCTACAACACCGACTGGATCAAACAGACGCTGGATGTCCCGTCGAt                                                  >  1:3215029/1‑70 (MQ=255)
                    cAACTCCACCTATGATGGCTTGCTCTACAACACCGACTGGATCAAACAGACGCTgg                                                               <  1:1753475/56‑1 (MQ=255)
                    cAACTCCACCTATGATGGCTTGCTCTACAACACCGACTGGATCAAACAGACGCTGGATGTCCCGTc                                                     >  1:4336822/1‑66 (MQ=255)
                    cAACTCCACCTATGATGGCTTGCTCTACAACACCGACTGGATCAAACAGACGCTGGATGTCCCGTc                                                     >  1:4245769/1‑66 (MQ=255)
                    cAACTCCACCTATGATGGCTTGCTCTACAACACCGACTGGATCAAACAGACGCTGGATGTCCCGTc                                                     >  1:4768275/1‑66 (MQ=255)
                     aaCTCCACCTATGATGGCTTGCTCTACAACACCGACTGGATCAAACAGACGCTGGATg                                                            <  1:4415161/58‑1 (MQ=255)
                      aCTCCACCTATGATGGCTTGCTCTACAACACCGACTGGATCAAACAGACGCTGGATGTCCCGTc                                                     >  1:5210805/1‑64 (MQ=255)
                      aCTCCACCTATGATGGCTTGCTCTACAACACCGACTGGATCAAACAGACGCTGGATGTCCCGTCGATTCAc                                              >  1:4155830/1‑71 (MQ=255)
                      aCTCCACCTATGATGGCTTGCTCTACAACACCGACTGGATCAAACAGACGCTGGATGTCCCGTCGATTCAc                                              >  1:2508859/1‑71 (MQ=255)
                       ctctACCTATGATGGTCTGCTGTACAACACCGACTTCATCAAGAAAACACTGGATg                                                            <  1:2685241/56‑1 (MQ=255)
                         ctaCCTATGATGGTCTGCTGTACAACACCGACTTCATCAAGAAAACACTGGa                                                              >  1:647599/3‑52 (MQ=255)
                         ccACCTATGATGGCTTGCTCTACAACACCGACTGGATCAAACAGACGCTGGa                                                              >  1:4783054/1‑52 (MQ=255)
                         ccACCTATGATGGCTTGCTCTACAACACCGACTGGATCAAACAGACGCTGGa                                                              >  1:3638267/1‑52 (MQ=255)
                         ccACCTATGATGGCTTGCTCTACAACACCGACTGGATCAAACAGACGCTGGa                                                              >  1:4345823/1‑52 (MQ=255)
                         ccACCTATGATGGCTTGCTCTACAACACCGACTGGATCAAACAGACGCTGGa                                                              >  1:4280845/1‑52 (MQ=255)
                         ccACCTATGATGGCTTGCTCTACAACACCGACTGGATCAAACAGACGCTGGa                                                              >  1:2292827/1‑52 (MQ=255)
                         ccACCTATGATGGCTTGCTCTACAACACCGACTGGATCAAACAGACGCTGGATGTCCCGTCGATTCACTTc                                           >  1:4535807/1‑71 (MQ=255)
                           aCCTATGATGTCTTGCTCTACAACACCGACTGGATCAAACAGACGCTGGATGTCCCGTCGATTCACTTCGa                                         <  1:1400329/71‑1 (MQ=255)
                           aCCTATGATGGTCTGCTGTACAACACCGACTTCATCAAGAAAACACTGGa                                                              >  1:3096392/1‑50 (MQ=255)
                           aCCTATGATGGCTTGCTCTACAACACCGACTGGATCAAACAGa                                                                     >  1:3073922/1‑43 (MQ=255)
                           aCCTATGATGGCTTGCTCTACAACACCGACTGGATCAAACAGACGCTg                                                                >  1:4819432/1‑48 (MQ=255)
                           aCCTATGATGGCTTGCTCTACAACACCGACTGGATCAAACAGACGCTGGATGTCCCGTCGATTCACTTCGa                                         <  1:3830497/71‑1 (MQ=255)
                           aCCTATGATGGCTTGCTCTACAACACCGACTGGATCAAACAGACGCTGGATGTCCCGTCGATTCACTTCGa                                         <  1:4100464/71‑1 (MQ=255)
                            ccTATGATGGCTTGCTCTACAACACCGACTGGATCAAACAGACGCTg                                                                <  1:5408528/47‑1 (MQ=255)
                             cTATGATGGCTTGCTCTACAACACCGACTGGATCAAACAGACGCTgg                                                               <  1:5400529/47‑1 (MQ=255)
                             cTATGATGGCTTGCTCTACAACACCGACTGGATCAAACAGACGCTGGATGTCCCGTCGATTCACTTCg                                          <  1:2277606/68‑1 (MQ=255)
                              tATGATGGCTTGCTCTACAACACCGACTGGATCAAACAGACGCTGGATGTCCCGTCGa                                                   >  1:5093710/1‑58 (MQ=255)
                              tATGATGGCTTGCTCTACAACACCGACTGGATCAAACAGACGCTGGATGTCCCGTCGa                                                   >  1:2875733/1‑58 (MQ=255)
                              tATGATGGCTTGCTCTACAACACCGACTGGATCAAACAGACGCTGGATGTCCCGTCGa                                                   >  1:5669044/1‑58 (MQ=255)
                              tATGATGGCTTGCTCTACAACACCGACTGGATCAAACAGACGCTGGATGTCCCGTCGa                                                   >  1:417307/1‑58 (MQ=255)
                              tATGATGGCTTGCTCTACAACACCGACTGGATCAAACAGACGCTGGATGTCCCGTCGa                                                   >  1:1831980/1‑58 (MQ=255)
                               atgatgGCTTGCTCTACAACACCGACTGGATCAAACAGACGCTGGATGTCCCGTCGATTCACTTCGAt                                        >  1:4954634/1‑68 (MQ=255)
                                tgatgGTCTGCTGTACAACACCGACTTCATCAAGAAAACACTGGATGtga                                                         <  1:3746880/50‑3 (MQ=255)
                                tgatgGCTTGCTCTACAACACCGACTGGATCAAACAGACGCTg                                                                <  1:5089149/43‑1 (MQ=255)
                                tgatgGCTTGCTCTACAACACCGACTGGATCAAACAGACGCTGGATGTCCCGTCGATTCACTTc                                           <  1:4663397/64‑1 (MQ=255)
                                tgatgGCTTGCTCTACAACACCGACTGGATCAAACAGACGCTGGATGTCCCGTCGATTCACTTCGATTCTg                                    >  1:5642568/1‑71 (MQ=255)
                                  atgGCTTGCTCTACAACACCGACTGGATCAAACAGACGCTGGATGTCCCGTCGATTCACTTCGATTCTGcc                                  >  1:1373105/1‑71 (MQ=255)
                                   tgGCTTGCTCTACAACACCGACTGGATCAAACAGACGCTGGATGTCCCGTCGATTCACTTCGATTCTGCCt                                 <  1:4418760/71‑1 (MQ=255)
                                     gCTTGCTCTACAACACCGACTGGATCAAACAGACGCTGGATGTCCCGTCGATTCACTTCGATTCTGCCTg                                <  1:614753/70‑1 (MQ=255)
                                       ttGCTCTACAACACCGACTGGATCAAACAGACGCTGGATGTCCCGTCGATTCACTTCGATTCTGCCTGGGt                             >  1:2674363/1‑71 (MQ=255)
                                       ttGCTCTACAACACCGACTGGATCAAACAGACGCTGGATGTCCCGTCGATTCACTTCGATTCTGCCTGGGt                             >  1:2428289/1‑71 (MQ=255)
                                        tGCTGTACAACACCGACTTCATCAAGAAAACACTGGATGTGAAATCCATCCACTTTGACTCCGCGTGGGTg                            >  1:130997/1‑71 (MQ=255)
                                        tGCTGTACAACACCGACTTCATCAAGAAAACACTGGATGTGAAATCCATCCACTTTGACTCCGCGTGGGTg                            >  1:69485/1‑71 (MQ=255)
                                        tGCTGTACAACACCGACTTCATCAAGAAAACACTGGATGTGAAATCCATCCACTTTGACTCCGCGTGGGTg                            >  1:636499/1‑71 (MQ=255)
                                         gCTCTACAACACCGACTGGATCAAACAGACGCTGGATGTCCCGTCGATTCACTTCGATTCTGCCTGGGTGc                           >  1:2076418/1‑71 (MQ=255)
                                          ctctACAACACCGACTGGATCAAACAGACGCTGGATGTCCCGTCGATTCACTTCGATTCTGCCTGGGTGcc                          >  1:2328671/1‑71 (MQ=255)
                                          ctctACAACACCGACTGGATCAAACAGACGCTGGATGTCCCGTCGATTCACTTCGATTCTGCCTGGGTGcc                          <  1:5310417/71‑1 (MQ=255)
                                           tctACAACACCGACTGGATCAAACAGACGCTGGATg                                                            <  1:2184263/36‑1 (MQ=255)
                                           tctACAACACCGACTGGATCAAACAGACGCTGGATGt                                                           <  1:1660062/37‑1 (MQ=255)
                                           tctACAACACCGACTGGATCAAACAGACGCTGGATGt                                                           <  1:4326992/37‑1 (MQ=255)
                                            ctACAACACCGACTGGATCAAACAGCCGCTGGATGTCCCGTCGATTCACTTCGATTCTGCCTGGGTGCCg                         >  1:2405386/1‑70 (MQ=255)
                                             tACAACACCGACTGGATCAAACAGACGCTGGATGTCCCGTCGAtt                                                 >  1:2334169/1‑45 (MQ=255)
                                               caacaCCGACTTCATCAAGAAAACACTGGATGTGAAATCCATCCACTTTGACTCCGCGTGGGTGCCTTaca                     >  1:19933/1‑71 (MQ=255)
                                               caacaCCGACTTCATCAAGAAAACACTGGATGTGAAATCCATCCACTTTGACTCCGCGTGGGTGCCTTaca                     >  1:2258878/1‑71 (MQ=255)
                                               caacaCCGACTGGATCAAACAGACGCTGGATGTCCCGTCGATTCACTTCGATTCTGCCTGGGTGCCGTaca                     >  1:485429/1‑71 (MQ=255)
                                                aacaCCGACTGGATCAAACAGACGCTGGATGTCCCGTCGATTCACTTCGATTCTGCCTGGGTGCCGTacac                    >  1:2438796/1‑71 (MQ=255)
                                                 acacCGACTGGATCAAACAGACGCTGGATGTCCCGTCGATTCACTTCGATTCTGCCTGGGt                             <  1:5215632/61‑1 (MQ=255)
                                                 acacCGACTGGATCAAACAGACGCTGGATGTCCCGTCGATTCACTTCGATTCTGCCTGGGt                             <  1:4547776/61‑1 (MQ=255)
                                                 acacCGACTGGATCAAACAGACGCTGGATGTCCCGTCGATTCACTTCGATTCTGCCTGGGt                             <  1:3466722/61‑1 (MQ=255)
                                                 acacCGACTGGATCAAACAGACGCTGGATGTCCCGTCGATTCACTTCGATTCTGCCTGGGt                             <  1:302618/61‑1 (MQ=255)
                                                  cacCGACTGGACCAAACAGACGCTGGATGTCCCGTCGATTCACTTCGATTCTGCCTGGGTGCCGTACAccc                  <  1:5215005/71‑1 (MQ=255)
                                                   acCGTCTGGATCAAAGAGACGCTGGATGTCCCGTCGATTGACTTCGATTGTGCCTGGGTGCCGTACACCCa                 <  1:5465383/71‑1 (MQ=255)
                                                    ccGACTGGAACAAACAGACGCTGGATGTCCCGTCGATTCACTTCGATTCTGc                                   >  1:770251/1‑52 (MQ=255)
                                                     cGACTGGATCAAACAGACGCTGGATGTCCCGTCGATTCACTTAGATTCTGCCTGGGTGCCGTACACCCAtt               >  1:7307/1‑71 (MQ=255)
                                                       aCTGGATCAAACAGACGCTGGATGTCCCGTCGATTCACTTCGAt                                        >  1:591502/1‑44 (MQ=255)
                                                       aCTGGATCAAACAGACGCTGGATGTCCCGTCGATTCACTTCGAt                                        >  1:853719/1‑44 (MQ=255)
                                                       aCTGGATCAAACAGACGCTGGATGTCCCGTCGATTCACTTCGAt                                        >  1:4881135/1‑44 (MQ=255)
                                                       aCTGGATCAAACAGACGCTGGATGTCCCGTCGATTCACTTCGAt                                        >  1:1169679/1‑44 (MQ=255)
                                                       aCTGGATCAAACAGACGCTGGATGTCCCGTCGATTCACTTCGAt                                        >  1:1960778/1‑44 (MQ=255)
                                                       aCTGGATCAAACAGACGCTGGATGTCCCGTCGATTCACTTCGAt                                        >  1:2722826/1‑44 (MQ=255)
                                                       aCTGGATCAAACAGACGCTGGATGTCCCGTCGATTCACTTCGAt                                        >  1:3646242/1‑44 (MQ=255)
                                                         tGGATCAAACAGACGCTGGATGTCCCGTCGATTCACTTCg                                          <  1:3705390/40‑1 (MQ=255)
                                                         tGGATCAAACAGACGCTGGATGTCCCGTCGATTCACTTCg                                          <  1:1010732/40‑1 (MQ=255)
                                                              cAAACAGACGCTGGATGTCCCGTCGATTCACTTCGATTCTGCCTGGGTGCCGTACACCCATTTTCATCCGa      >  1:3387964/1‑71 (MQ=255)
                                                               aaaCAGACGCTGGATGTCCCGTCGATTCACTTCGATTCTGCCTgg                               >  1:2494008/1‑45 (MQ=255)
                                                               aaaCAGACGCTGGATGTCCCGTCGATTCACTTCGATTCTGCCTgg                               >  1:2431789/1‑45 (MQ=255)
                                                               aaaCAGACGCTGGATGTCCCGTCGATTCACTTCGATTCTGCCTgg                               >  1:4588438/1‑45 (MQ=255)
                                                               aaaCAGACGCTGGATGTCCCGTCGATTCACTTCGATTCTGCCTgg                               >  1:801927/1‑45 (MQ=255)
                                                                 aCAGACGCTGGATGTCCCGTCGATTCACTTCGATTCTGCCTGGGTGCCGTacac                    >  1:2049515/1‑54 (MQ=255)
                                                                 aCAGACGCTGGATGTCCCGTCGATTCACTTCGATTCTGCCTGGGTGCCGTaca                     >  1:4164848/1‑53 (MQ=255)
                                                                  cAGACGCTGTATGTCCCGTCGATTCACTTCTATTCTg                                    <  1:5132272/37‑1 (MQ=38)
                                                                  cAGACGCTGGATGTCCCGTCGATTCACTTCGATTCTGCCTGGGTGCCGTACACCCATTTTCATCCGATCTa  <  1:3199739/71‑1 (MQ=255)
                                                                  cAGACGCTGGATGTCCCGTCGATTCACTTCGATTCTGCCTGGGTGCCGTACACCCATTTTCATCCGATCTa  >  1:1274597/1‑71 (MQ=255)
                                                                    |                                                                    
CCGGTTCATGCGGTGATCACCAACTCCACCTATGATGGCTTGCTCTACAACACCGACTGGATCAAACAGACGCTGGATGTCCCGTCGATTCACTTCGATTCTGCCTGGGTGCCGTACACCCATTTTCATCCGATCTA  >  Exported/189395‑189531

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: