Predicted mutation
evidence seq id position mutation freq annotation gene description
RA Exported 189,605 A→C 20.6% M368L (ATG→CTG)  ldcC → lysine decarboxylase 2, constitutive

Read alignment evidence...
  seq id position ref new freq score (cons/poly) reads annotation genes product
*Exported189,6050AC20.6% 104.5 / 33.6 63M368L (ATG→CTG) ldcClysine decarboxylase 2, constitutive
Reads supporting (aligned to +/- strand):  ref base A (21/29);  new base C (8/5);  total (29/34)
Fisher's exact test for biased strand distribution p-value = 2.30e-01
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 6.67e-01

GGTAAAAGTGGTATGAGCGGCGAGCGTGTTGCGGGAAAAGTGATCTTCGAAACGCAATCGACCCACAAAATGCTGGCGGCGTTATCGCAGGCTTCGCTGATCCACATTAAAGGCGAGTATGACGAAGAGGCCTTTAACGA  >  Exported/189536‑189675
                                                                     |                                                                      
ggTAAAAGTGGTATGAGCGGCGAGCGTGTTGCGGGAAAAGTGATCTTCGAAACGCAATCGACCCACAAAAt                                                                       <  1:4932725/71‑1 (MQ=255)
  tAAATGCGGTATGAGCGGTGGCCGTGTAGAAGGGAAAGTGATTTACGAAACCCAGTCCACTCACAAACTGc                                                                     <  1:4873280/71‑1 (MQ=255)
   aaaaGTGGTATGAGCGGCGAGCGTGTTGCGGGAAAAGTGATCTTCGAAACGCAATCGACCCACAAAATGCt                                                                    >  1:1720803/1‑71 (MQ=255)
     aaGTGGTATGAGCGGCGAGCGTGTTGCGGGAAAAGTGATCTTCGAAACGCAATCGACCCACAAAATGCTgg                                                                  <  1:1277332/71‑1 (MQ=255)
     aaGTGGTATGAGCGGCGAGCGTGTTGCGGGAAAAGTGATCTTCGAAACGCAATCGACCCACAAAATGCTgg                                                                  >  1:4387942/1‑71 (MQ=255)
        tGGTATGAGCGGCGAGCGTGTTGCGGGAAAAGTGATCTTCGAAACGCAATCGACCCACaaaa                                                                        >  1:1664180/1‑62 (MQ=255)
          gTATGAGCGGTGGCCGTGTAGAAGGGAAAGTGATTTACGAAACCCAGTCCACTCACAAACTGCTGgcggcg                                                             >  1:765353/1‑71 (MQ=255)
            aTGAGCGGTGGCCGTGTAGAAGGGAAAGTGATTTACGAAACCCAGTCCACTCACAAACTGCTGGCGGCGtt                                                           >  1:3310451/1‑71 (MQ=255)
             tGAGCGGCGAGCGTGTTGCGGGAAAAGTGATCTTCGAAACGCAATCGACCCACAAAATGCTGGCGGCGtt                                                           <  1:4972451/70‑1 (MQ=255)
             tGAGCGGCGAGCGTGTTGCGGGAAAAGTGATCTTCGAAACGCAATCGACCCACAAAATGCTGGCGGCGTTa                                                          <  1:4594300/71‑1 (MQ=255)
              gAGCGGTGGCCGTGTAGAAGGGAAAGTGATTTACGAAACCCAGTCCACTCACAAACTGCTGGCGGCGtt                                                           <  1:3147560/69‑1 (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)
                            ttGCGGGAAAAGTGATCTTCGAAACGCAATCGACCCACAAAAt                                                                       <  1:193018/43‑1 (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                                      >  1:2249731/1‑70 (MQ=255)
                                  gAAAAGTGATCTTCGAAACGCAATCGACCCACAAAATGCTGGCGGCGTTATCGCAGGCTTCGCTGATCca                                      >  1:5473956/1‑70 (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                                 <  1:5328848/71‑1 (MQ=255)
                                      aGTGATCTTCGAAACGCAATCGACCCACAAAATGCTGGCGGCGTTATCGCAGGCTTCGCTGATCCACATTa                                 <  1:1140448/71‑1 (MQ=255)
                                      aGTGATCTTCGAAACGCAATCGACCCACAAAATGCTGGCGGCGTTATCGCAGGCTTCGCTGATCCACATTa                                 <  1:4224866/71‑1 (MQ=255)
                                       gTGATTTACGAAACCCAGTCCACTCACAAACTGCTGGCGGCGTTCTCTCAGGCTTCCATGATCCACGTTaa                                <  1:1430545/71‑1 (MQ=255)
                                       gTGATCTTCGAAACGCAATCGACCCACAAAATGCTGGCGGCGTTATCGCAGGCTTCGCTGATCCACATTa                                 <  1:1564498/70‑1 (MQ=255)
                                        tGATCTTCGAAACGCAATCGACCCACAAAATGCTgg                                                                  >  1:1165198/1‑36 (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                         >  1:2828260/1‑70 (MQ=255)
                                               cGAAACGCAATCGACCCACAAAATGCTGGCGGCGTTATCGCAGGCTTCGCTGATCCACATTAAAGGCGAg                         >  1:2389013/1‑70 (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)
                                                                   aaaTGCTGGCGGCGTTATCGCAGGCTTCGCTGATCCACATTAAAGGCGAGTATGACg                  <  1:4168114/57‑1 (MQ=255)
                                                                   aaaTGCTGGCGGCGTTATCGCAGGCTTCGCTGATCCACATTAAAGGCGAGTATGACGaa                >  1:4537899/1‑59 (MQ=255)
                                                                    aaTGCTGGCGGCGTTATCGCAGGCTTCGCTGATCCACATTaa                                <  1:4526349/42‑1 (MQ=255)
                                                                     aTGCTGGCGGCGTTATCGCAGGCTTCGCTGATCCACATTAAAGGCGAGTATGACGAAGAGGCCTTTAACGa  <  1:1993556/71‑1 (MQ=255)
                                                                     |                                                                      
GGTAAAAGTGGTATGAGCGGCGAGCGTGTTGCGGGAAAAGTGATCTTCGAAACGCAATCGACCCACAAAATGCTGGCGGCGTTATCGCAGGCTTCGCTGATCCACATTAAAGGCGAGTATGACGAAGAGGCCTTTAACGA  >  Exported/189536‑189675

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: