Predicted mutation
evidence seq id position mutation freq annotation gene description
RA Exported 189,632 C→A 20.5% L377M (CTG→ATG)  ldcC → lysine decarboxylase 2, constitutive

Read alignment evidence...
  seq id position ref new freq score (cons/poly) reads annotation genes product
*Exported189,6320CA20.5% 186.6 / 25.2 73L377M (CTG→ATG) ldcClysine decarboxylase 2, constitutive
Reads supporting (aligned to +/- strand):  ref base C (30/28);  new base A (9/6);  total (39/34)
Fisher's exact test for biased strand distribution p-value = 7.72e-01
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.33e-01

TTGCGGGAAAAGTGATCTTCGAAACGCAATCGACCCACAAAATGCTGGCGGCGTTATCGCAGGCTTCGCTGATCCACATTAAAGGCGAGTATGACGAAGAGGCCTTTAACGAAGCCTTTATGATGCATACCACCACC  >  Exported/189564‑189700
                                                                    |                                                                     
ttGCGGGAAAAGTGATCTTCGAAACGCAATCGACCCACAAAATTCTGGCGGCGTTATCGCAGGCTTCGCt                                                                      <  1:1891243/70‑1 (MQ=255)
ttGCGGGAAAAGTGATCTTCGAAACGCAATCGACCCACAAAATGCTGGCGGCGTTATCGCAGGCTTCGCt                                                                      <  1:4195592/70‑1 (MQ=255)
ttGCGGGAAAAGTGATCTTCGAAACGCAATCGACCCACAAAATGCTGGCGGCGTTATCGCAGGCTTCGCt                                                                      <  1:1688458/70‑1 (MQ=255)
   cGGGAAAAGTGATCTTCGAAACGCAATCGACCCACAAAATGCTGGCGGCGTTATCGCAGGCTTCGCTGAt                                                                   <  1:1403813/70‑1 (MQ=255)
    gggAAAAGTGATCTTCGAAACGCAATCGACCCACAAAATGCTGGCGGCGTTATCGCAGGCTTCGCTGATcc                                                                 <  1:4567406/71‑1 (MQ=255)
      ggaaaGTGATTTACGAAACCCAGTCCACTCACAAACTGCTGGCGGCGTTCTCTCAGGCTTCCATGATCcac                                                               >  1:2759123/3‑71 (MQ=255)
      ggaaaGTGATTTACGAAACCCAGTCCACTCACAAACTGCTGGCGGCGTTCTCTCAGGCTTCCATGATCca                                                                >  1:1646249/3‑70 (MQ=255)
      gAAAAGTGATCTTCGAAACGCAATCGACCCACAAAATGCTGGCGGCGTTATCGCAGGCTTCGCTGATCca                                                                >  1:5473956/1‑70 (MQ=255)
      gAAAAGTGATCTTCGAAACGCAATCGACCCACAAAATGCTGGCGGCGTTATCGCAGGCTTCGCTGATCca                                                                >  1:2249731/1‑70 (MQ=255)
        aaaGTGATTTACGAAACCCAGTCCACTCACAAACTGCTGGCGGCGTTCTCTCAGGCTTCCATGATCcacgt                                                             >  1:3790835/1‑69 (MQ=255)
        aaaGTGATCTTCGAAACGCAATCGACCCACAAAATGCTGGCGGCGTTATCGCAGGCTTCGCTGATTCACAt                                                             >  1:2461359/1‑71 (MQ=255)
        aaaGTGATCTTCGAAACGCAATCGACCCACAAAATGCTGGCGGCGTTATCGCAGGCTTCGCTGATCCACAt                                                             >  1:1352376/1‑71 (MQ=255)
         aaGTGATTTACGAAACCCAGTCCACTCACAAACTGCTGGCGGCGTTCTCTCAGGCTTCCATGATCCACGtt                                                            <  1:3372895/71‑1 (MQ=255)
          aGTGATTTACGAAACCCAGTCCACTCACAAACTGCTGGCGGCGTTCTCTCAGGCTTCCATGATCCACGTTa                                                           <  1:3760592/71‑1 (MQ=255)
          aGTGATCTTCGAAACGCAATCGACCCACAAAATGCTGGCGGCGTTATCGCAGGCTTCGCTGATCCACATTa                                                           <  1:4224866/71‑1 (MQ=255)
          aGTGATCTTCGAAACGCAATCGACCCACAAAATGCTGGCGGCGTTATCGCAGGCTTCGCTGATCCACATTa                                                           <  1:5328848/71‑1 (MQ=255)
          aGTGATCTTCGAAACGCAATCGACCCACAAAATGCTGGCGGCGTTATCGCAGGCTTCGCTGATCCACATTa                                                           <  1:1140448/71‑1 (MQ=255)
           gTGATTTACGAAACCCAGTCCACTCACAAACTGCTGGCGGCGTTCTCTCAGGCTTCCATGATCCACGTTaa                                                          <  1:1430545/71‑1 (MQ=255)
           gTGATCTTCGAAACGCAATCGACCCACAAAATGCTGGCGGCGTTATCGCAGGCTTCGCTGATCCACATTa                                                           <  1:1564498/70‑1 (MQ=255)
                cTTCGAAACGCAATCGACCCACAAAATGCTGGCGGCGTTATCGCAGGCTTCGCTg                                                                     >  1:5611158/1‑55 (MQ=255)
                cTTCGAAACGCAATCGACCCACAAAATGCTGGCGGCGTTATCGCAGGCTTCGCTg                                                                     >  1:1203878/1‑55 (MQ=255)
                   cGAAACGCAATCGACCCACAAAATGCTGGCGGCGTTATCGCAGGCTTCGCTGATCCACATTAAAGGCg                                                     <  1:4468663/68‑1 (MQ=255)
                   cGAAACGCAATCGACCCACAAAATGCTGGCGGCGTTATCGCAGGCTTCGCTGATCCACATTAAAGGCGAg                                                  >  1:2389013/1‑70 (MQ=255)
                   cGAAACGCAATCGACCCACAAAATGCTGGCGGCGTTATCGCAGGCTTCGCTGATCCACATTAAAGGCGAg                                                  >  1:2828260/1‑70 (MQ=255)
                   cGAAACGCAATCGACCCACAAAATGCTGGCGGCGTTATAGCAGGCTTCGCTGATCCACATTAAAGGCGAg                                                  <  1:3524215/70‑1 (MQ=255)
                    gAAACGCAATCGACCCACAAAATGCTGGCGGCGTTATCGCAGGCTTCGCTGATCCACATTAAAGGCGAGTa                                                >  1:4136647/1‑71 (MQ=255)
                      aaCGCAATCGACCCACAAAATGCTGGCGGCGTTATCGCAGGCTTCGCTGATCCACATTAAAGGCGAGTATg                                              <  1:3577523/71‑1 (MQ=255)
                       aCGCAATCGACCCACAAAATGCTGGCGGCGTTATCGCAGGCTTCGCTGATCCACATTAAAGGCGAGTATGa                                             >  1:4396090/1‑71 (MQ=255)
                         gCAATCGACCCACAAAATGCTGGCGGCGTTATCGCAGGCTTCGCTGATCCACATTAAAGGCGAGTATGAc                                            >  1:1814148/1‑70 (MQ=255)
                            aTCGACCCACAAAATGCTGGCGGCGTTATCGCAGGCTTCGCTGATCCACATTAAAGGCGAGTATGACg                                           >  1:3528236/1‑68 (MQ=255)
                               gACCCACAAAATGCTGGCGGCGTTATCGCAGGCTTCGCTGATCCACATTAAAGGCGAGTATGACGAAGAgg                                     >  1:969445/1‑71 (MQ=255)
                               gACCCACAAAATGCTGGCGGCGTTATCGCAGGCTTCGCTGAACCACAtt                                                            >  1:3021550/1‑49 (MQ=255)
                                   cacaAACTGCTGGCGGCGTTCTCTCAGGCTTCCATGATCCACGTTa                                                           >  1:1910623/1‑46 (MQ=16)
                                    acaAACTGCTGGCGGCGTTCTCTCAGGCTTCCATGATc                                                                  >  1:610880/1‑38 (MQ=16)
                                    acaAACTGCTGGCGGCGTTCTCTCAGGCTTCCATGATCcac                                                               >  1:1381805/1‑41 (MQ=19)
                                    acaAAATGCTGGCGGCGTTATCGCAGGCTTCGCTGATCCACATTAAAGGCGAg                                                  <  1:4881224/53‑1 (MQ=255)
                                    acaAAATGCTGGCGGCGTTATCGCAGGCTTCGCTGATCCACATTAAAGGCGAGTATGACGaa                                         >  1:4640438/1‑62 (MQ=255)
                                    acaAAATGCTGGCGGCGTTATCGCAGGCTTCGCTGATCCACATTAAAGGCGAGTATGACGAAGAGGCCttt                                <  1:1393737/71‑1 (MQ=255)
                                    acaAAATGCTGGCGGCGTTATCGCAGGCTTCGCTGATCCACATTAAAGGCGAGTATGACGAAGAGGCCttt                                <  1:5283223/71‑1 (MQ=255)
                                    acaAAATGCTGGCGGCGTTATCGCAGGCTTCGCTGATCCACATTAAAGGCGAGTATGACGAAGAGGCCtt                                 >  1:165013/1‑70 (MQ=255)
                                     caAAATGCTGGCGGCGTTATCGCAGGCTTCGCTGATCCACATTAAAGGCGAGTATGACg                                           <  1:5583990/59‑1 (MQ=255)
                                     caAAATGCTGGCGGCGTTATCGCAGGCTTCGCTGATCCACATTAAAGGCGAGTATGACGAAGAGGCCTTTa                               <  1:5347006/71‑1 (MQ=255)
                                     caAAATGCTGGCGGCGGTATCGCAGGCTTCGCTGATCCACATTAAAGGCGAGTATGAc                                            <  1:3759399/58‑1 (MQ=255)
                                      aaaaTGCTGGCGGCGTTATCGCAGGCTTCGCTGATCca                                                                <  1:4970359/38‑1 (MQ=255)
                                       aactGCTGGCGGCGTTCTCTCAGGCTTCCATGATCCACGTTAAAGGTGACGTAAACGAAGAAACCTTTAAc                             <  1:3267072/68‑1 (MQ=255)
                                       aaaTGCTGGCGGCGTTATCGCAGGCTTCGCTGATCCACATTAAAGGCGAGTATGACg                                           <  1:4168114/57‑1 (MQ=255)
                                       aaaTGCTGGCGGCGTTATCGCAGGCTTCGCTGATCCACATTAAAGGCGAGTATGACGaa                                         >  1:4537899/1‑59 (MQ=255)
                                        actGCTGGCGGCGTTCTCTCAGGCTTCCATGATCCACGTTAAAGGTGACGTAAACGAAGAAACCTTTAAc                             >  1:2664385/3‑70 (MQ=255)
                                        aaTGCTGGCGGCGTTATCGCAGGCTTCGCTGATCCACATTaa                                                          <  1:4526349/42‑1 (MQ=255)
                                         ctGCTGGCGGCGTTCTCTCAGGCTTCCATGATCca                                                                >  1:821736/2‑35 (MQ=16)
                                         aTGCTGGCGGCGTTATCGCAGGCTTCGCTGATCCACATTAAAGGCGAGTATGACGAAGAGGCCTTTAACGa                           <  1:1993556/71‑1 (MQ=255)
                                          tGCTGGCGGCGTTATCGCAGGCTTCGCTGATCCACATTaaa                                                         >  1:384446/1‑41 (MQ=255)
                                             tGGCGGCGTTCTCTCAGGCTTCCATGATCCACGTTAAAGGTGACGTAAACGAAGAAACCTTTAACGAAGcc                       >  1:5052938/1‑71 (MQ=9)
                                               gcggcgTTCTCTCAGGCTTCCATGATCCACGTTAAAGGTGACGTAAACGAAGAAACCTTTAACGAAGCCta                     <  1:1625746/71‑2 (MQ=9)
                                               gcggcgTTCTCTCAGGCTTCCATGATCCACGTTAAAGGTGACGTAAACGAAGAAACCTTTAACGAAGCCta                     <  1:3187422/71‑2 (MQ=9)
                                                cggcgTTATCGCAGGCTTCGCTGATCCACATTAAAGGCGAGTATGACGAAGAGGCCTTTAACGAAGCCttt                    <  1:3467769/71‑1 (MQ=255)
                                                    gTTATCGCAGGCTTCGCTGATCCACATTAAAGGCGAGTATGACGAAGAGGCCTTTAACGAAGCCTTTatga                <  1:1687361/71‑1 (MQ=255)
                                                       aTCGCAGGCTTCGCTGATCCACATTAAAGGCGAGTATGACGaa                                         >  1:374156/1‑43 (MQ=255)
                                                       aTCGCAGGCTTCGCTGATCCACATTAAAGGCGAGTATGACGAAGAGGCCTTTAACGAAGCCTTTatgatg              >  1:200255/1‑70 (MQ=255)
                                                       aTCGCAGGCTTCGCTGATCCACATTAAAGGCGAGTATGACGAAGAGGCCTTTAACGAAGCCTTTatgatg              >  1:5344576/1‑70 (MQ=255)
                                                        tCGCAGGCTTCGCTGATCCACATTAAAGGCGAGTATGACGaa                                         <  1:4873787/42‑1 (MQ=255)
                                                        tCGCAGGCTTCGCTGATCCACATTAAAGGCGAGTATGACGaa                                         <  1:2421135/42‑1 (MQ=255)
                                                        tCGCAGGCTTCGCTGATCCACATTAAAGGCGAGTATGACGaa                                         <  1:676933/42‑1 (MQ=255)
                                                          gCAGGCTTCGCTGATCCACATTAAAGGCGAGTATGACGAaga                                       >  1:3115107/1‑42 (MQ=255)
                                                          gCAGGCTTCGCTGATCCACATTAAAGGCGAGTATGACGAaga                                       >  1:952053/1‑42 (MQ=255)
                                                          gCAGGCTTCGCTGATCCACATTAAAGGCGAGTATGACGAAGAGGCCTTTAACGAAGCCTTTat                  >  1:2311735/1‑63 (MQ=255)
                                                            aGGCTTCGCTGATCCACATTAAAGGCGAGTATGACGAagag                                      >  1:810037/1‑41 (MQ=255)
                                                             ggCTTCGCTGATCCACATTAAAGGCGAGTATGACGAAGAGGCCTTTAACg                            >  1:4697611/1‑50 (MQ=255)
                                                             ggCTTCGCTGATCCACATTAAAGGCGAGTATGACGAAGAGGCCTTTAACGa                           >  1:3355102/1‑51 (MQ=255)
                                                             ggCTTCGCTGATCCACATTAAAGGCGAGTATGACGAAGAGGCCTTTAACGAAGCCTTTATGATGCATacca       >  1:5404280/1‑71 (MQ=255)
                                                                ttCGCTGATCCACATTAAAGGCGAGTATGACGAagag                                      >  1:260674/1‑37 (MQ=255)
                                                                ttCGCTGATCCACATTAAAGGCGAGTATGACGAAGAGGCCTTTAACGAAGCCTTTATGATGCATac         >  1:1271987/1‑66 (MQ=255)
                                                                   gCTGATCCACAATAAAGGCGAGTATGACGAAGAGGCCTTTAACGAAGCCTTTATGATGCATaccaccacc  <  1:4619047/70‑1 (MQ=255)
                                                                    cTGATCCACATTAAAGGCGATTATGACGAAGAGGCCTTTAACGAAGCCTTTatgat               <  1:224533/56‑1 (MQ=255)
                                                                    |                                                                     
TTGCGGGAAAAGTGATCTTCGAAACGCAATCGACCCACAAAATGCTGGCGGCGTTATCGCAGGCTTCGCTGATCCACATTAAAGGCGAGTATGACGAAGAGGCCTTTAACGAAGCCTTTATGATGCATACCACCACC  >  Exported/189564‑189700

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: