Predicted mutation
evidence seq id position mutation freq annotation gene description
RA Exported 2,780,576 A→G 8.6% E517E (GAA→GAG metH → homocysteine‑N5‑methyltetrahydrofolate transmethylase, B12‑dependent

Read alignment evidence...
  seq id position ref new freq score (cons/poly) reads annotation genes product
*Exported2,780,5760AG 8.6% 164.7 / 5.3 58E517E (GAA→GAGmetHhomocysteine‑N5‑methyltetrahydrofolate transmethylase, B12‑dependent
Reads supporting (aligned to +/- strand):  ref base A (32/21);  new base G (2/3);  total (34/24)
Fisher's exact test for biased strand distribution p-value = 6.40e-01
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 1.00e+00

GCGCACGGAAAATCGAGATTTGCCGTCGGGCGTACAAAATCCTCACCGAAGAGGTTGGCTTCCCGCCAGAAGATATCATCTTCGACCCAAACATCTTCGCGGTCGCAACTGGCATTGAAGAGCACAACAACTACGCG  >  Exported/2780506‑2780642
                                                                      |                                                                  
gcgcACGGAAAATCGAGATTTGCCGTCGGGCGTACAAAATCCTCACCGAAGAGGTTGGCTTCCCGCCagaa                                                                    <  1:3072830/71‑1 (MQ=255)
gcgcACGGAAAATCGAGATTTGCCGTCGGGCGTACAAAATCCTCACCGAAGAGGTTGGCTTCCCGCCagaa                                                                    <  1:4298257/71‑1 (MQ=255)
gcgcACGGAAAATCGAGATTTGCCGTCGGGCGTACAAAATCCTCACCGAAGAGGTTGGCTTCCCGCCagaa                                                                    <  1:565434/71‑1 (MQ=255)
gcgcACGGAAAATCGAGATTTGCCGTCGGGCGTACAAAATCCTCACCGAAGAGGTTGGCTTCCCGCCagaa                                                                    <  1:2556465/71‑1 (MQ=255)
gcgcACGGAAAATCGAGATTTGCCGTCGGGCGTACAAAATCCTCACCGAAGAGGTTGGCTTCCCGCCagaa                                                                    <  1:4749308/71‑1 (MQ=255)
      ggAAAATCGAGATTTGCCGTCGGGCGTACAAAATCCTCACCGAAGAGGTTGGCTTCCCGCCAGAAGATatc                                                              <  1:1462548/71‑1 (MQ=255)
          aaTCGAGATTTGCCGTCGGGCGTACAAAATCCTCACCGAAGAGGTTGGCTTCCCGCCAGAAGATATCATCt                                                          <  1:1205069/71‑1 (MQ=255)
          aaTCGAGATTTGCCGTCGGGCGTACAAAATCCTCACCGAAGAGGTTGGCTTCCCGCCAGAAGATATCATCt                                                          <  1:321419/71‑1 (MQ=255)
          aaTCGAGATTTGCCGTCGGGCGTACAAAATCCTCACCGAAGAGGTTGGCTTCCCGCCAGAAGATATCATCt                                                          <  1:2619360/71‑1 (MQ=255)
                  tttGCCGTCGGGCGTACAAAATCCTCACCGAAGAGGTTGGCTTCCCGCCAGAAGATATCATCTTCGAcaca                                                  <  1:2248491/71‑1 (MQ=255)
                  tttGCCGTCGGGCGTACAAAATCCTCACCGAAGAGGTTGGCTTCCCGCCAGAAGATATCATCTTCGACCCa                                                  <  1:4738133/71‑1 (MQ=255)
                   ttGCCGTCGGGCGTACAAAATCCTCACCGAAGAGGTTGGCTTCCCGCCAGAAGATatc                                                              <  1:4353046/58‑1 (MQ=255)
                   ttGCCGTCGGGCGTACAAAATCCTCACCGAAGAGGTTGGCTTCCCGCCAGAAGATatc                                                              <  1:600949/58‑1 (MQ=255)
                      ccGTCGGGCGTACAAAATCCTCACCGAAGAGGTTGGCTTCCCGCCAGAAGATATCATCTTCGACCCAAACa                                              >  1:415578/1‑71 (MQ=255)
                                  cAAAATCCTCACCGAAGAGGTTGGCTTCCCGCCAGAAGATATCATCTTCGACCCAAACATCTTCGCGGTCg                                  >  1:4120214/1‑71 (MQ=255)
                                  cAAAATCCTCACCGAAGAGGTTGGCTTCCCGCCAGAAGATATCATCTTCGACCCAAACATCTTCGCGGTCg                                  >  1:2820538/1‑71 (MQ=255)
                                  cAAAATCCTCACCGAAGAGGTTGGCTTCCCGCCAGAAGATATCATCTTCGACCCAAACATCTTCGCGGTCg                                  >  1:3703871/1‑71 (MQ=255)
                                  cAAAATCCTCACCGAAGAGGTTGGCTTCCCGCCAGAAGATATCATCTTCGACCCAAACATCTTCGCGGTCg                                  >  1:2689126/1‑71 (MQ=255)
                                  cAAAATCCTCACCGAAGAGGTTGGCTTCCCGCCAGAAGATATCATCTTCGACCCAAACATCTTCGCGGTCg                                  >  1:3993863/1‑71 (MQ=255)
                                  cAAAATCCTCACCGAAGAGGTTGGCTTCCCGCCAGAAGATATCATCTTCGACCCAAACATCTTCGCGGTCg                                  >  1:3687712/1‑71 (MQ=255)
                                  cAAAATCCTCACCGAAGAGGTTGGCTTCCCGCCAGAAGATATCATCTTCGACCCAAACATCTTCGCGGTCg                                  >  1:3585028/1‑71 (MQ=255)
                                   aaaaTCCTCACCGAAGAGGTTGGCTTCCCGCCAGAAGATATCATCTTCGACCCAAACATCTTCGCGGTCGc                                 <  1:1602277/71‑1 (MQ=255)
                                    aaaTCCTCACCGAAGAGGTTGGCTTCCCGCCAGAAGATATCATCTTCGACCCAAACATCTTCGCGGTCGc                                 <  1:2415083/70‑1 (MQ=255)
                                    aaaTCCTCACCGAAGAGGTTGGCTTCCCGCCAGAAGATATCATCTTCGACCCAAACATCTTCGCGGTCGCa                                <  1:2397547/71‑1 (MQ=255)
                                    aaaTCCTCACCGAAGAGGTTGGCTTCCCGCCAGAAGATATCATCTTCGACCCAAACATCTTCGCGGTCGCa                                <  1:892246/71‑1 (MQ=255)
                                      aTCCTCACCGAAGAGGTTGGCTTCCCGCCAGAAGATatcat                                                            >  1:2605939/1‑41 (MQ=255)
                                      aTCCTCACCGAAGAGGTTGGCTTCCCGCCAGAAGATGTCATCTTCGa                                                      >  1:311000/1‑47 (MQ=255)
                                      aTCCTCACCGAAGAGGTTGGCTTCCCGCCAGAAGATATCATCTTCGa                                                      >  1:3442274/1‑47 (MQ=255)
                                      aTCCTCACCGAAGAGGTTGGCTTCCCGCCAGAAGATATCATCTTCGa                                                      >  1:2415205/1‑47 (MQ=255)
                                         cTCACCGAAGAGGTTGGCTTCCCGCCAGAAGATATCATCTTCGACCCAAACATCTTcgcg                                      <  1:3511738/60‑1 (MQ=255)
                                         cTCACCGAAGAGGTTGGCTTCCCGCCAGAAGATATCATCTTCGACCCAAACATCTTCGCGGTCGCAACTgg                           <  1:2134796/71‑1 (MQ=255)
                                         cTCACCGAAGAGGTTGGCTTCCCGCCAGAAGATATCATCTTCGACCCAAACATCTTCGCGGTCGCAACTgg                           <  1:208824/71‑1 (MQ=255)
                                            aCCGAAGAGGTTGGCTTCCCGCCAGAAGATATCATCTTCGACCCAAACATCTTcg                                        >  1:2266355/1‑55 (MQ=255)
                                            aCCGAAGAGGTTGGCTTCCCGCCAGAAGATATCATCTTCGACCCAAACATCTTCGCGGTCGCAACTGGCAt                        >  1:2788352/1‑71 (MQ=255)
                                            aCCGAAGAGGTTGGCTTCCCGCCAGAAGATATCATCTTCGACCCAAACATCTTCGCGGTCGCAACTGGCAt                        >  1:1418144/1‑71 (MQ=255)
                                              ggAACAGGTGGGCTTCCCGCCCGAGGACATCATCTTCGACCCGAACATCTTCGCCATCGCCACCGGCAtcg                      <  1:2788306/70‑3 (MQ=255)
                                              ggAACAGGTGGGCTTCCCGCCCGAGGACATCATCTTCGACCCGAACATCTTCGCCATCGCCACCGGCAtcg                      <  1:5168310/70‑3 (MQ=255)
                                              cGAAGAGGTTGGCTTCCCGCCAGAAGATATCATCTTCGACCCAAACATCTTCGCGGTCGCAACTGGCATTg                      <  1:2966179/71‑1 (MQ=255)
                                              cGAAGAGGTTGGCTTCCCGCC‑‑AAGATATCATCTTCGACCCAAACATCTTCGCGGTCGCAACTGGCATTGaa                    <  1:2895127/71‑1 (MQ=255)
                                               gAAGAGGTTGGCTTCCCGCCAGAAGATATCATCTTCGACCCAAACATCTTCGCGGTCGCAACTGGCATTg                      >  1:3115903/1‑70 (MQ=255)
                                                 agagGTTGGCTTCCCGCCAGAAGATATCATCTTCGACCCAAACATCTTCGCGGTCGCAACTGGCATTg                      >  1:2929685/1‑68 (MQ=255)
                                                 agagGTTGGCTTCCCGCCAGAAGATATCATCTTCGACCCAAACATCTTCGCGGTCGCAACTGGCATTg                      >  1:2162596/1‑68 (MQ=255)
                                                   agGTGGGCTTCCCGCCCGAGGACATCATCTTCGACCCGAACATCTTCGCCATCGCCACCGGCAtcg                      <  1:2439643/66‑3 (MQ=255)
                                                      ttGGCTTCCCGCCAGAAGATATCATCTTCGACCCAAACATCTTCGCGGTCGCAACTGGCATTGAAGAGcac              <  1:2014448/71‑1 (MQ=255)
                                                       tGGCTTCCCGCCAGAAGATATCATCTTCGACCCAAACATCTTCGCGGTCGCAACTGGCATTGAAGAGcac              >  1:1681936/1‑70 (MQ=255)
                                                       tGGCTTCCCGCCAGAAGATATCATCTTCGACCCAAACATCTTCGCGGTCGCAACTGGCATTGAAGAGcac              >  1:361598/1‑70 (MQ=255)
                                                       tGGCTTCCCGCCAGAAGATATCATCTTCGACCCAAACATCTTCGCGGTCGCAACTGGCATTGAAGAGcac              >  1:1024957/1‑70 (MQ=255)
                                                       tGGCTTCCCGCCAGAAGATATCATCTTCGACCCAAACATCTTCGCGGTCGCAACTGGCATTGAAGAGcac              >  1:1634863/1‑70 (MQ=255)
                                                       tGGCTTCCCGCCAGAAGATATCATCTTCGACCCAAACATCTTCGCGGTCGCAACTGGCATTGAAGAGcac              >  1:271596/1‑70 (MQ=255)
                                                       tGGCTTCCCGCCAGAAGATATCATCTTCGACCCAAACATCTTCGCGGTCGCAACTGGCATTGAAGAGca               >  1:2994662/1‑69 (MQ=255)
                                                         gCTTCCCGCCCGAGGACATCATCTTCGACCCGAACATCTTCGCCATCGCCACCGGCATCGAAGAGcacga            >  1:3176332/1‑68 (MQ=255)
                                                         gCTTCCCGCCCGAGGACATCATCTTCGACCCGAACATCTTCGCCATCGCCACCGGCATCGAAGAGcacga            >  1:4945708/1‑68 (MQ=255)
                                                         gCTTCCCGCCAGAAGATATCATCTTCGACCCAAACATCTTCGCGGTCGCAACTGGCATTGAAGAGCacaac           <  1:1981611/71‑1 (MQ=255)
                                                           ttCCCGCCAGAAGATATCATCTTCGACCCAAACATCTTCGCGGTCGCAACTgg                           <  1:1431312/53‑1 (MQ=255)
                                                           ttCCCGCCAGAAGATATCATCTTCGACCCAAACATCTTCGCGGTCGCAACTgg                           <  1:5149127/53‑1 (MQ=255)
                                                             cccGCCAGAAGATATCATCTTCGACCCAAACATCTTCGCGGTCGCAAc                              >  1:1234313/1‑48 (MQ=255)
                                                             cccGCCAGAAGATATCATCTTCGACCCAAACATCTTCGCGGTCGCAAc                              >  1:342859/1‑48 (MQ=255)
                                                             cccGCCAGAAGATATCATCTTCGACCCAAACATCTTCGCGGTCGCAAc                              >  1:1049197/1‑48 (MQ=255)
                                                             cccGCCAGAAGATATCATCTTCGACCCAAACATCTTCGCGGTCGCAAc                              >  1:383990/1‑48 (MQ=255)
                                                             cccGCCAGAAGATATCATCTTCGACCCAAACATCTTCGCGGTCGCAAc                              >  1:3667153/1‑48 (MQ=255)
                                                             cccGCCAGAAGATATCATCTTCGACCCAAACATCTTCGCGGTCGCAAc                              >  1:3082653/1‑48 (MQ=255)
                                                                  cAGAAGATATCATCTTCGCCCCAAACATCTTCGCGGTCGCAACTGGCATTGAAGAGCACAACAACTAcgcg  >  1:5021432/1‑71 (MQ=255)
                                                                  cAGAAGATATCATCTTCGACCCAAACATCTTCGCGGTCGCAACTGGCATTGAAGAGCACAACAACTAcgcg  >  1:2132151/1‑71 (MQ=255)
                                                                      |                                                                  
GCGCACGGAAAATCGAGATTTGCCGTCGGGCGTACAAAATCCTCACCGAAGAGGTTGGCTTCCCGCCAGAAGATATCATCTTCGACCCAAACATCTTCGCGGTCGCAACTGGCATTGAAGAGCACAACAACTACGCG  >  Exported/2780506‑2780642

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: