Predicted mutation
evidence seq id position mutation freq annotation gene description
RA AP009048 3,059,788 C→T 12.0% L95L (CTG→TTG)  yliK → methylmalonyl‑CoA mutase

Read alignment evidence...
  seq id position ref new freq score (cons/poly) reads annotation genes product
*AP0090483,059,7880CT12.0% 143.3 / 9.3 50L95L (CTG→TTG) yliKmethylmalonyl‑CoA mutase
Reads supporting (aligned to +/- strand):  ref base C (24/20);  new base T (2/4);  total (26/24)
Fisher's exact test for biased strand distribution p-value = 4.09e-01
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.16e-01

ACCGTGGACCATCCGTCAGTATGCTGGTTTTTCAACAGCAAAAGAGTCCAACGCTTTTTATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCC  >  AP009048/3059718‑3059853
                                                                      |                                                                 
aCCGTGGACCATCCGTCAGTATGCTGGTTTTTCAACAGCAAAAGAGTCCAACGCTTTTTATCGCCGTAAcc                                                                   <  1:658625/71‑1 (MQ=255)
    tGGACCATCCGTCAGTATGCTGGTTTTTCAACAGCAAAAGAGTCCAACGCTTTTTATCGCCGTAACCTGgc                                                               <  1:1031952/71‑1 (MQ=255)
       aCCATCCGTCAGTATGCTGGTTTTTCAACAGCAAAAGAGTCCAACGCTTTTTATCGCCGTAACTTGgccgc                                                            <  1:483093/71‑1 (MQ=255)
        ccATCCGTCAGTATGCTGGTTTTTCATCAGCAAAAGAGTCCAACGCTTTTTATCGCCGTAACTTGgccgcc                                                           <  1:4530961/71‑1 (MQ=255)
        ccATCCGTCAGTATGCTGGTTTTTCAACAGCAAAAGAGTCCAACGCTTTTTATCGCCGTAACCTGgccgcc                                                           <  1:4173976/71‑1 (MQ=255)
        ccATCCGTCAGTATGCTGGTTTTTCAACAGCAAAAGAGTCCAACGCTTTTTATCGCCGTAACCTGgccgcc                                                           <  1:3837033/71‑1 (MQ=255)
         cATCCGTCAGTATGCTGGTTTTTCAACAGCAAAAGAGTCCAACGCTTTTTATCGCCGTAACCt                                                                  <  1:3411495/63‑1 (MQ=255)
         cATCCGTCAGTATGCTGGTTTTTCAACAGCAAAAGAGTCCAACGCTTTTTATCGCCGTAACCTGTccgccg                                                          <  1:6001/71‑1 (MQ=255)
         cATCCGTCAGTATGCTGGTTTTTCAACAGCAAAAGAGTCCAACGCTTTTTATCGCCGTAACCTGGccgccg                                                          >  1:2072593/1‑71 (MQ=255)
         cATCCGTCAGTATGCTGGTTTTTCAACAGCAAAAGAGTCCAACGCTTTTTATCGCCGTAACCTGGacgccg                                                          >  1:2591897/1‑71 (MQ=255)
             cGTCAGTATGCTGGTTTTTCAACAGCAAAAGAGTCCAACGCTTTTTATCGCCGTAACCTGGCCGCCggg                                                        >  1:2555749/1‑69 (MQ=255)
                 aGTATGCTGGTTTTTCAACAGCAAAAGAGTCCAACGCTTTTTATCGCCCTAACCTGGCCGCCGGGCaaaa                                                   <  1:2123936/70‑1 (MQ=255)
                   tATGCTGGTTTTTCAACAGCAAAAGAGTCCAACGCTTTTTATCGCCCTAACCTGGCCGCCGGGCAAAAAgg                                                <  1:510507/71‑1 (MQ=255)
                     tGCTGGTTTTTCAACAGCAAAAGAGTCCAACGCTTTTTATCGCCTTAACCTGGCCGCCGGGCAAAAAGGTc                                              >  1:1886333/1‑71 (MQ=255)
                     tGCTGGTTTTTCAACAGCAAAAGAGTCCAACGCTTTTTATCGCCGTAACTTGGCCGCCGGGCAAAAAGGt                                               >  1:2457804/1‑70 (MQ=255)
                     tGCTGGTTTTTCAACAGCAAAAGAGTCCAACGCTTTTTATCGCCGTAACCTGGCCGCCGGGCaaa                                                    <  1:2843388/65‑1 (MQ=255)
                      gCTGGTTTTTCAACAGCAAAAGAGTCCAACGCTTTTTATCGCCGTAACCTGGCCGCCGGGCaaa                                                    <  1:4479431/64‑1 (MQ=255)
                          gTTTTTCAACAGCAAAAGAGTCCAACGCTTTTTATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTcc                                         <  1:3291023/71‑1 (MQ=255)
                          gTTTTTCAACAGCAAAAGAGTCCAACGCTTTTTATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTcc                                         >  1:3850091/1‑71 (MQ=255)
                           tttttCAACAGCAAAAGAGTCCAACGCTTTTTATCGCCGTAACCTGGCCGCCGGGCAAAAAg                                                 <  1:1866375/62‑1 (MQ=255)
                           tttttCAACAGCAAAAGAGTCCAACGCTTTTTATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCg                                        >  1:2963606/1‑71 (MQ=255)
                            ttttCAACAGCAAAAGAGTCCAACGCTTTTTATCGCCGTAACCTGgccgcc                                                           <  1:3992715/51‑1 (MQ=255)
                             tttCAACAGCAAAAGAGTCCAACGCTTTTTATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGtt                                      >  1:1119798/1‑71 (MQ=255)
                             tttCAACAGCAAAAGAGTCCAACGCTTTTTATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGt                                       <  1:4306104/70‑1 (MQ=255)
                                 aaCAGCAAAAGAGTCCAACGCTTTTTATCGCCGTAACCTg                                                                 >  1:1329373/1‑40 (MQ=255)
                                 aaCAGCAAAAGAGTCCAACGCTTTTTATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGt                                  <  1:4452924/71‑1 (MQ=255)
                                       aaaaGAGTCCAACGCTTTTTATCGCCGTAACTTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGAcc                            <  1:1503837/71‑1 (MQ=255)
                                       aaaaGAGTCCAACGCTTTTTATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGAc                             >  1:3849642/1‑70 (MQ=255)
                                        aaaGAGTCCAACGCTTTTTATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCt                           <  1:2826122/71‑1 (MQ=255)
                                          agagTCCAACGCTTTTTATCGCCGTAACTTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGAccat                          <  1:3653955/70‑3 (MQ=255)
                                               ccAACGCTTTTTATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGccacc                    >  1:1573793/1‑71 (MQ=255)
                                                cAACGCTTTTTATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGccacc                    >  1:833095/1‑70 (MQ=255)
                                                  aCGCTTTTTATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGccacccac                 <  1:4379625/71‑1 (MQ=255)
                                                  aCGCTTTTTATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGccacccac                 >  1:90179/1‑71 (MQ=255)
                                                   cGCTTTTTATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCcacccacc                >  1:2695766/1‑71 (MQ=255)
                                                   cGCTTTTTATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCcacccacc                >  1:1479848/1‑71 (MQ=255)
                                                   cGCTTTTTATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCcacccacc                >  1:697123/1‑71 (MQ=255)
                                                   cGCTTTTTATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCcacccacc                >  1:3527856/1‑71 (MQ=255)
                                                   cGCTTTTTATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCcacccacc                >  1:405548/1‑71 (MQ=255)
                                                    gCTTTTTATCGCCGTAACTTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGAcacccacca               >  1:3555339/1‑70 (MQ=255)
                                                    gCTTTTTATCGCCGTAACCTGGCCGCCGGGCaaaaa                                                  >  1:367670/1‑36 (MQ=255)
                                                    gCTTTTTATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCg               <  1:3973057/71‑1 (MQ=255)
                                                      tttttATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCcacccacc                >  1:1720167/1‑68 (MQ=255)
                                                      tttttATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTg             >  1:4286621/1‑71 (MQ=255)
                                                            tCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTAc        <  1:3608101/70‑1 (MQ=255)
                                                            tCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTAc        <  1:1830813/70‑1 (MQ=255)
                                                              gCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGAc     >  1:2960245/1‑71 (MQ=255)
                                                               ccGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACt    <  1:591621/71‑1 (MQ=255)
                                                                 gTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTcc  >  1:2610214/1‑71 (MQ=255)
                                                                  tAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGa                              >  1:2192192/1‑42 (MQ=255)
                                                                  tAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTcc  >  1:2870536/1‑70 (MQ=255)
                                                                      cTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGttt                                >  1:649751/1‑36 (MQ=255)
                                                                      |                                                                 
ACCGTGGACCATCCGTCAGTATGCTGGTTTTTCAACAGCAAAAGAGTCCAACGCTTTTTATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCC  >  AP009048/3059718‑3059853

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: