Predicted mutation
evidence seq id position mutation freq annotation gene description
RA Exported 189,619 A→C 23.4% L372F (TTA→TTC ldcC → lysine decarboxylase 2, constitutive

Read alignment evidence...
  seq id position ref new freq score (cons/poly) reads annotation genes product
*Exported189,6190AC23.4% 104.0 / 40.4 64L372F (TTA→TTCldcClysine decarboxylase 2, constitutive
Reads supporting (aligned to +/- strand):  ref base A (20/29);  new base C (9/6);  total (29/35)
Fisher's exact test for biased strand distribution p-value = 2.42e-01
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 1.00e+00

TGAGCGGCGAGCGTGTTGCGGGAAAAGTGATCTTCGAAACGCAATCGACCCACAAAATGCTGGCGGCGTTATCGCAGGCTTCGCTGATCCACATTAAAGGCGAGTATGACGAAGAGGCCTTTAACGAAGCCTTTATGATG  >  Exported/189549‑189688
                                                                      |                                                                      
tGAGCGGCGAGCGTGTTGCGGGAAAAGTGATCTTCGAAACGCAATCGACCCACAAAATGCTGGCGGCGTTa                                                                        <  1:4594300/71‑1 (MQ=255)
   gcggcgAGCGTGTTGCGGGAAAAGTGATCTTCGAAACGCAATCGACCCACAAAATGCTGGCGGCGTTATCg                                                                     <  1:5024137/71‑1 (MQ=255)
      gcgAGCGTGTTGCGGGAAAAGTGATCTTCGAAACGCAATCGACCCACAAAATGCTGGCGGCGTTATCGCAg                                                                  >  1:5478784/1‑71 (MQ=255)
      gcgAGCGTGTTGCGGGAAAAGTGATCTTCGAAACGCAATCGACCCACAAAATGCTGGCGGCGTTATCGCAg                                                                  >  1:1361244/1‑71 (MQ=255)
             tgtTGCGGGAAAAGAGATCTTCGAAACGCAATCGACCCACAAAATGCTGGCGGCGTTATCGCa                                                                   <  1:4531633/63‑1 (MQ=255)
               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                                               <  1:1140448/71‑1 (MQ=255)
                         aGTGATCTTCGAAACGCAATCGACCCACAAAATGCTGGCGGCGTTATCGCAGGCTTCGCTGATCCACATTa                                               <  1:4224866/71‑1 (MQ=255)
                         aGTGATCTTCGAAACGCAATCGACCCACAAAATGCTGGCGGCGTTATCGCAGGCTTCGCTGATCCACATTa                                               <  1:5328848/71‑1 (MQ=255)
                          gTGATTTACGAAACCCAGTCCACTCACAAACTGCTGGCGGCGTTCTCTCAGGCTTCCATGATCCACGTTaa                                              <  1:1430545/71‑1 (MQ=255)
                          gTGATCTTCGAAACGCAATCGACCCACAAAATGCTGGCGGCGTTATCGCAGGCTTCGCTGATCCACATTa                                               <  1:1564498/70‑1 (MQ=255)
                               cTTCGAAACGCAATCGACCCACAAAATGCTGGCGGCGTTa                                                                        <  1:806274/40‑1 (MQ=255)
                               cTTCGAAACGCAATCGACCCACAAAATGCTGGCGGCGTTATCGCAGGCTTCGCTg                                                         >  1:1203878/1‑55 (MQ=255)
                               cTTCGAAACGCAATCGACCCACAAAATGCTGGCGGCGTTATCGCAGGCTTCGCTg                                                         >  1:5611158/1‑55 (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)
                                    aaaCGCAATCGACCCACAAAATGCTGGCGGCGTTATCGCAGGCTTc                                                             <  1:635745/46‑1 (MQ=255)
                                    aaaCGCAATCGACCCACAAAATGCTGGCGGCGTTATCGCAGGCTTc                                                             <  1:1094194/46‑1 (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)
                                            tCGACCCACAAAATGCTGGCGGCGTTATCGCAGGCt                                                               <  1:606893/36‑1 (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  >  1:5344576/1‑70 (MQ=255)
                                                                      aTCGCAGGCTTCGCTGATCCACATTAAAGGCGAGTATGACGAAGAGGCCTTTAACGAAGCCTTTatgatg  >  1:200255/1‑70 (MQ=255)
                                                                      |                                                                      
TGAGCGGCGAGCGTGTTGCGGGAAAAGTGATCTTCGAAACGCAATCGACCCACAAAATGCTGGCGGCGTTATCGCAGGCTTCGCTGATCCACATTAAAGGCGAGTATGACGAAGAGGCCTTTAACGAAGCCTTTATGATG  >  Exported/189549‑189688

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: