Predicted mutation
evidence seq id position mutation freq annotation gene description
RA Exported 1,792,342 G→A 17.3% Q242Q (CAG→CAA gabT → 4‑aminobutyrate aminotransferase, PLP‑dependent

Read alignment evidence...
  seq id position ref new freq score (cons/poly) reads annotation genes product
*Exported1,792,3420GA17.3% 119.1 / 15.1 52Q242Q (CAG→CAAgabT4‑aminobutyrate aminotransferase, PLP‑dependent
Reads supporting (aligned to +/- strand):  ref base G (25/18);  new base A (5/4);  total (30/22)
Fisher's exact test for biased strand distribution p-value = 1.00e+00
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 1.00e+00

TATGCAGCGTTTACGCGCTCTGTGTGACGAGCACGGGATCATGCTGATTGCCGATGAAGTGCAGAGCGGCGCGGGGCGTACCGGCACGCTGTTTGCGATGGAGCAGATGGGCGTTGCGCCGGATCTTACCACC  >  Exported/1792279‑1792411
                                                               |                                                                     
tATGCAGCGTTTACGCGCTCTGTGTGACGAGCACGGGATCATGCTGATTGCCGATGAAGTGCAGAgcgg                                                                  <  1:1002385/69‑1 (MQ=255)
 aTGCAGCGTTTACGCGCTCTGTGTGACGAGCACGGGATCATGCTGATTGCCGATGAAGTGCAGAgcggcg                                                                <  1:3271303/70‑1 (MQ=255)
     aGCGTTTACGCGCTCTGTGTGACGAGCACGGGATCATGCTGATTGCCGATGAAGTGCAGAGCGGCGCgggg                                                           >  1:3037624/1‑71 (MQ=255)
      gCGTTTACGCGCTCTGTGTGACGAGCACGGGATCATGCTGATTGCCGATGAAGTGCAGAgc                                                                    >  1:1679210/1‑61 (MQ=255)
       cGTTTACGCGCTCTGTGTGACGAGCACGGGATCATGCTGATTGCCGATGAAGTGCaga                                                                      >  1:4511673/1‑58 (MQ=255)
       cGTTTACGCGCTCTGTGTGACGAGCACGGGATCATGCTGATTGCCGATGAAGTGCaga                                                                      >  1:2879982/1‑58 (MQ=255)
       cGTTTACGCGCTCTGTGTGACGAGCACGGGATCATGCTGATTGCCGATGAAGTGCaga                                                                      >  1:5051213/1‑58 (MQ=255)
                  tctGTGTGACGAGCACGGGATCATGCTGATTGCCGATGAAGTGCAGAGCGGCGCGGGGCGTACCGGCACGc                                              >  1:1664302/1‑71 (MQ=255)
                   ctGTGTGACGAGCACGGGATCATGCTGATTGCCGATGAAGTGCAGAGCGGCGCGGGGCGTAc                                                      >  1:4993916/1‑62 (MQ=255)
                   ctGTGCGACGAGCACGGTATTGTGATGATTGCTGATGAAGTGCaaag                                                                     >  1:725134/1‑47 (MQ=12)
                   ctGTGCGACGAGCACGGTATTGTGATGATTGCTGATGAAGTGCAAAGCGGCTTTGCGCGTACCGGTAAGCt                                             <  1:4652432/71‑1 (MQ=255)
                    tgtgtgACGAGCACGGGATCATGCTGATTGCCGATGAAGTGCAGAGCGGCGCGGGGCGTACCGGCACGCTg                                            >  1:4684396/1‑71 (MQ=255)
                     gtgcgACGAGCACGGTATTGTGATGATTGCTGATGAAGTGCAAAgcggct                                                                <  1:2046466/50‑2 (MQ=12)
                      tgtgACGAGCACGGGATCATGCTGATTGCCGATGAAGTGCAGAGCGGCGCGGGGCGTACCGGCACGCTg                                            <  1:849431/69‑1 (MQ=255)
                      tgtgACGAGCACGGGATCATGCTGATTGCCGATGAAGTGCAGAGCGGCGCGGGGCGTACCGGCACGCTg                                            <  1:1308500/69‑1 (MQ=255)
                      tgtgACGAGCACGGGATCATGCTGAATGCCGATGAAGTGCAGAGCGGCGCGGGGCGTACCGGCACGCt                                             <  1:4720948/68‑1 (MQ=255)
                       gtgACGAGCACGGGATCATGCTGATTGCCGATGAAGTGCagag                                                                     <  1:4194455/43‑1 (MQ=255)
                       gtgACGAGCACGGGATCATGCTGATTGCCGATGAAGTGCagag                                                                     <  1:4913888/43‑1 (MQ=255)
                       gtgACGAGCACGGGATCATGCTGATTGCCGATGAAGTGCagag                                                                     <  1:3701008/43‑1 (MQ=255)
                       gcgACGAGCACGGTATTGTGATGATTGCTGATGAAGTGCAAAgcggc                                                                 >  1:4235612/3‑47 (MQ=12)
                       gcgACGAGCACGGTATTGTGATGATTGCTGATGAAGTGCAAAGCGGCTTTGCGCGTACCGGTAAGCTGttt                                         >  1:4831320/3‑71 (MQ=255)
                        tgACGAGCACGGGATCATGCTGATTGCCGATGAAGTGCAGAGCGGCGCggg                                                            >  1:1961799/1‑51 (MQ=255)
                        tgACGAGCACGGGATCATGCTGATTGCCGATGAAGTGCAGAGCGGCGCggg                                                            >  1:4733063/1‑51 (MQ=255)
                        tgACGAGCACGGGATCATGCTGATTGCCGATGAAGTGCAGAGCGGCGCggg                                                            >  1:2040951/1‑51 (MQ=255)
                        tgACGAGCACGGGATCATGCTGATTGCCGATGAAGTGCAGAGCGGCGCggg                                                            >  1:532730/1‑51 (MQ=255)
                         gatgAGCACGGTATTGTGATGATTGCTGATGAAGTGCAAAGCGGCTTTGCGCGTACCGGTAAGCTGTTTGc                                       <  1:893522/68‑1 (MQ=255)
                          aCGAGCACGGGATCATGCTGATTGCCGATGAAGTGCAGAGCGGCGCGGGGCGTACCGGCACGCTGTTTGc                                       <  1:2704639/70‑1 (MQ=255)
                          aCGAGCACGGGATCATGCTGATTGCCGATGAAGTGCAGAGCGGCGCGGGGCGTACCGGCACGCTGTTTGc                                       <  1:782166/70‑1 (MQ=255)
                            gAGCACGGTATTGTGATGATTGCTGATGAAGTGCAAAGCGGCTTTGCGCGTACCGGTAAGCTGtt                                          >  1:5575742/1‑65 (MQ=255)
                              gCACGGTATTGTGATGATTGCTGATGAAGTGCAAAGCGGCTTTGCGCGTACCGGTAAGCTGTTTGCCATgg                                  <  1:5162724/71‑1 (MQ=255)
                               cACGGTATTGTGATGATTGCTGATGAAGTGCAAAGCGGCTTTGCGCGTACCgg                                                   >  1:2652280/1‑53 (MQ=255)
                               cACGGGATCATGCTGATTGCCGATGAAGTGCAGAgcg                                                                   >  1:2712028/1‑37 (MQ=255)
                               cACGGGATCATGCTGATTGCCGATGAAGTGCAGAGCGGCGCGGGGCGTACCGGCACGCTGTTTGCGATg                                   >  1:2924971/1‑69 (MQ=255)
                                  gggATCATGCTGATTGCCGATGAAGTGCAGAGCGGCGCGGGGCGTACCGGCACGCTGTTTGCGATGGAGCa                              <  1:2439660/71‑1 (MQ=255)
                                      tCATGCTGATTGCCGATGAAGTGCAGAGCGGCGCGGGGCGTACCGGCACGCTg                                            <  1:3937224/53‑1 (MQ=255)
                                      tCATGCTGATTGCCGATGAAGTGCAGAGCGGCGCGGGGCGTACCGGCACGCTGTTTGCGATGGAGCAGATg                          >  1:606700/1‑71 (MQ=255)
                                          gCTGATTGCCGATGAAGTGCAGAGCGGCGCGGGGCGTACCGGCACGCTGTTTGCGATGGAGCAGa                            >  1:757240/1‑65 (MQ=255)
                                          gCTGATTGCCGATGAAGTGCAGAGCGGCGCGGGGCGTACCGGCACGCTGTTTGCGATGGAGCAGa                            >  1:1979243/1‑65 (MQ=255)
                                          gCTGATTGCCGATGAAGTGCAGAGCGGCGCGGGGCGTACCGGCACGCTGTTTGCGATGGAGCAGa                            >  1:243532/1‑65 (MQ=255)
                                          gCTGATTGCCGATGAAGTGCAGAGCGGCGCGGGGCGTACCGGCACGCTGTTTGCGATGGAGCAGATGGGCg                      >  1:1003948/1‑71 (MQ=255)
                                          gCTGATTGCCGATGAAGTGCAGAGCGGCGCGGGGCGTACCGGCACGCTGTTTGCGATGGAGCAGATGGGCg                      >  1:3120713/1‑71 (MQ=255)
                                          gCTGATTGCCGATGAAGTGCAGAGCGGCGCGGGGCGTACCGGCACGCTGTTTGCGATGGAGCAGATGGGCg                      >  1:23092/1‑71 (MQ=255)
                                           cTGATTGCCGATGAAGTGCAGAGCGGCGCGGGGCGTACCGGCACGCTGTTTGCGATGGAGCAGATGGGCg                      <  1:4467188/70‑1 (MQ=255)
                                           cTGATTGCCGATGAAGTGCAGAGCGGCGCGGGGCGTACCGGCACGCTGTTTGCGATGGAGCAGATGGGCGt                     <  1:1239879/71‑1 (MQ=255)
                                            tGATTGCCGATGAAGTGCAGAGCGGCGCGGGGCGTACCGGCACGCTGTTTGCGa                                     >  1:5492579/1‑54 (MQ=255)
                                            tGATTGCCGATGAAGTGCAGAGCGGCGCGGGGCGTACCGGCACGCTGTTTGCGATGGAGCAGATGGGCGtt                    >  1:62374/1‑71 (MQ=255)
                                              aTTGCCGATGAAGTGCAGAGCGGCGCGGGGCGTACCGGCACGCTGTTTGCGATGGAGCAGATGGGCGtt                    <  1:4786949/69‑1 (MQ=255)
                                               ttGCCGATGAAGTGCAGAGCGGCGCGGGGCGTACCGGCACGCTGTTTGCGa                                     >  1:5322686/1‑51 (MQ=255)
                                                   cGATGAAGTGCAGAGCGGCGCGGGGCGTACCGGCACGCTGTTTGCGATgg                                  <  1:4517687/50‑1 (MQ=255)
                                                   cGATGAAGTGCAGAGCGGCGCGGGGCGTACCGGCACGCTGTTTGCGATgg                                  <  1:3804862/50‑1 (MQ=255)
                                                   cGATGAAGTGCAGAGCGGCGCGGGGCGTACCGGCACGCTGTTTGCGATGGAGCAGATGGGCGTTGCGCCgg             <  1:2118988/71‑1 (MQ=255)
                                                   cGATGAAGTGCAGAGCGGCGCGGGGAGTACCGGCACGCTGTTTGCGATGGAGCAGATGGGCGTTGCGCCgg             <  1:4446443/71‑1 (MQ=255)
                                                    gATGAAGTGCAGAGCGGCGCGGGGCGTACCGGCACGCTGTTTGCGATGGAGCAGATGGGCGTTGCGCCGGa            >  1:1191120/1‑71 (MQ=255)
                                                     aTGAAGTGCAAAGCGGCTTTGCGCGTACCGGTAAGCTGTTTGCCATGGa                                 >  1:68233/1‑49 (MQ=12)
                                                       gAAGTGCAGAGCGGCGCGGGGCGTACCGGCACGCTGTTTGCGATGGAGCAGATGGGCGTTGCGCCGGATCt         >  1:4795562/1‑71 (MQ=255)
                                                       gAAGTGCAGAGCGGCGCGGGGCGTACCGGCACGCTGTTTGCGATGGAGCAGATGGGCGTTGCGCCGGATCt         >  1:380934/1‑71 (MQ=255)
                                                        atgTGCAGAGCGGCGCGGGGCGTACCGGCACGCTGTTTGCGATGGAGCAGATGGGCGTTGCGCCGGATc          <  1:4160121/67‑1 (MQ=255)
                                                        aaGTGCAGAGCGGCGCGGGGCGTACCGGCACGCTGTTTGCGATGGAGCAGATGGGCGTTGCGCCGGATCt         >  1:3824077/1‑70 (MQ=255)
                                                         aGTGCAGAGCGGCGCGGGGCGTACCGGCACGCTGTTTGCGATGGAGCAGATGGGCGTTGCGCCGGa            <  1:1930109/66‑1 (MQ=255)
                                                              agagCGGCGCGGGGCGTACCGGCACGCTGTTTGCGATGGAGCAGATGGGCGTTGCGCCGGATCTTaccacc  <  1:2033011/71‑1 (MQ=255)
                                                              agagCGGCGCGGGGCGTACCGGCACGCTGTTTGCGATGGAGCAGATGGGCGTTGCGCCGGATCTTaccacc  <  1:3020909/71‑1 (MQ=255)
                                                               |                                                                     
TATGCAGCGTTTACGCGCTCTGTGTGACGAGCACGGGATCATGCTGATTGCCGATGAAGTGCAGAGCGGCGCGGGGCGTACCGGCACGCTGTTTGCGATGGAGCAGATGGGCGTTGCGCCGGATCTTACCACC  >  Exported/1792279‑1792411

Alignment Legend
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 27 ≤ ATCG/ATCG < 32 ≤ ATCG/ATCG < 36 ≤ ATCG/ATCG
Unaligned base: atcg    Masked matching base: atcg    Alignment gap:     Deleted base: