Predicted mutation
evidence seq id position mutation annotation gene description
RA NC_000913 3,061,202 A→G N118S (AAC→AGC)  scpA → methylmalonyl‑CoA mutase

Read alignment evidence...
  seq id position ref new freq score (cons/poly) reads annotation genes product
*NC_0009133,061,2020AG94.9% 187.5 / ‑0.8 59N118S (AAC→AGC) scpAmethylmalonyl‑CoA mutase
Reads supporting (aligned to +/- strand):  ref base A (1/2);  new base G (27/29);  total (28/31)
Fisher's exact test for biased strand distribution p-value = 1.00e+00
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.37e-01

GACCATCCGTCAGTATGCTGGTTTTTCAACAGCAAAAGAGTCCAACGCTTTTTATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAACCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTGGAAGATATGAAAGTCCTGTTCGACCAGATCCCGCTGGATAAAATGTCGGTTTCGATGACCATGAATGGCGCAGTGCTACCA  >  NC_000913/3061068‑3061335
                                                                                                                                      |                                                                                                                                     
gACCATCCGTCAGTATGCTGGTTTTTCAACAGCAAAAGAGTCCAACGCTTTTTATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCcg                                                                                                                                   >  2:1029389/1‑139 (MQ=255)
     tCCGTCAGTATGCTGGTTTTTCAACAGCAAAAGAGTCCAACGCTTTTTATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGt                                                                                                                              >  2:1169085/1‑139 (MQ=255)
        gTCAGTATGCTGGTTTTTCAACAGCAAAAGAGTCCAACGCTTTTTATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTggc                                                                                                                           >  1:1314625/1‑139 (MQ=255)
           aGTATGCTGGTTTTTCAACAGCAAAAGAGTCCAACGCTTTTTATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAACCCGCGCGTggcggg                                                                                                                        >  2:1280069/1‑139 (MQ=255)
               tGCTGGTTTTTCAACAGCAAAAGAGTCCAACGCTTTTTATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGAc                                                                                                                    >  1:1197443/1‑139 (MQ=255)
                gCTGGTTTTTCAACAGCAAAAGAGTCCAACGCTTTTTATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACC‑TGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGt                                                                                                                  >  1:908482/1‑139 (MQ=255)
                    gTTTTTCAACAGCAAAAGAGTCCAACGCTTTTTATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCgg                                                                                                               >  2:1059291/1‑139 (MQ=255)
                       tttCAACAGCAAAAGAGTCCAACGCTTTTTATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGAc                                                                                                                    >  1:317813/1‑131 (MQ=255)
                       tttCAACAGCAAAAGAGTCCAACGCTTTTTATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGAc                                                                                                                    <  2:317813/131‑1 (MQ=255)
                         tCAACAGCAAAAGAGTCCAACGCTTTTTATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAg                                                                                                          <  1:1249995/139‑1 (MQ=255)
                         tCAACAGCAAAAGAGTCCAACGCTTTTTATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAg                                                                                                          >  1:851665/1‑139 (MQ=255)
                               gCAAAAGAGTCCAACGCTTTTTATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGACAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCg                                                                                                    <  2:1249633/139‑1 (MQ=255)
                                 aaaaGAGTCCAACGCTTTTTATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTc                                                                                                  <  1:1169085/139‑1 (MQ=255)
                                 aaaaGAGTCCAACGCTTTTTATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTc                                                                                                  <  1:1059291/139‑1 (MQ=255)
                                  aaaGAGTCCAACGCTTTTTATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCg                                                                                                 <  2:1080986/139‑1 (MQ=255)
                                         ccAACGCTTTTTATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGa                                                                                          <  2:1314625/139‑1 (MQ=255)
                                          cAACGCTTTTTATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTAt                                                                                             >  2:1006358/1‑135 (MQ=255)
                                          cAACGCTTTTTATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTAt                                                                                             <  1:1006358/135‑1 (MQ=255)
                                                tttttATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCcgcgcg                                                                                                                               >  1:147013/1‑95 (MQ=255)
                                                tttttATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCcgcgcg                                                                                                                               <  2:147013/95‑1 (MQ=255)
                                                tttttATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTg                                                                                   <  1:1029389/139‑1 (MQ=255)
                                                tttttATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTg                                                                                   <  2:383551/139‑1 (MQ=255)
                                                 ttttATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACC‑TGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTGGa                                                                                 <  2:908482/139‑1 (MQ=255)
                                                  tttATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTGGa                                                                                 <  2:585344/139‑1 (MQ=255)
                                                  tttATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTGGa                                                                                 >  1:998958/1‑139 (MQ=255)
                                                   ttATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTGGaa                                                                                <  2:136036/139‑1 (MQ=255)
                                                     aTCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAACCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTGGAAGa                                                                              <  1:1185403/139‑1 (MQ=255)
                                                         ccGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAACCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTGGAAGATATg                                                                          <  1:1280069/139‑1 (MQ=255)
                                                          cGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGc                                                                                                              <  1:564896/102‑1 (MQ=255)
                                                          cGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGc                                                                                                              >  2:564896/1‑102 (MQ=255)
                                                            tAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCggg                                                                                                      >  1:408465/1‑108 (MQ=255)
                                                            tAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCggg                                                                                                      <  2:408465/108‑1 (MQ=255)
                                                            tAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTg                                                                                   >  2:216579/1‑127 (MQ=255)
                                                            tAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTg                                                                                   <  1:216579/127‑1 (MQ=255)
                                                                    ccgccgGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCg                                                                                                    >  2:278946/1‑102 (MQ=255)
                                                                    ccgccgGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCg                                                                                                    <  1:278946/102‑1 (MQ=255)
                                                                       ccgGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGt                                                                                                                              >  2:111516/1‑73 (MQ=255)
                                                                       ccgGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGt                                                                                                                              <  1:111516/73‑1 (MQ=255)
                                                                       ccgGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTGGAAGATATGAAAGTCCTGTTCGa                                                            <  2:439410/139‑1 (MQ=255)
                                                                        cgGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTGGAAGATATGAAAGGCCTGTTCGAc                                                           >  2:1030912/1‑139 (MQ=255)
                                                                                                 tttGACCTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTGGAAGATATGAAAGTCCTGTTCGACCAGATCCCGCTGGATAAAATGTCgg                                  >  2:1211731/1‑139 (MQ=255)
                                                                                                       cTTGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTGGAAGATATGAAAGTCCTGTTCGACCAGATCCCGCTGGATAAAATGTCGGTTTCGa                            <  2:1197443/139‑1 (MQ=255)
                                                                                                         tGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTGGAAGATATGAAAGTCCTGTTCGAcc                                                          >  1:1107580/1‑107 (MQ=255)
                                                                                                         tGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTGGAAGATATGAAAGTCCTGTTCGAcc                                                          <  2:1107580/107‑1 (MQ=255)
                                                                                                         tGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTGGAAGATATGAAAGTCCTGTTCGACCAGATCCCGCTGGATAAAATGTCGGTTTCGATg                          >  1:1310491/1‑139 (MQ=255)
                                                                                                         tGCCACCCACCGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTGGAAGATATGAAAGTCCTGTTCGACCAGATCCCGCTGGATAAAATGTCGGTTTCGATg                          >  1:1108226/1‑139 (MQ=255)
                                                                                                                   cGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGac                                                                                         >  1:48479/1‑66 (MQ=255)
                                                                                                                   cGTGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGac                                                                                         <  2:48479/66‑1 (MQ=255)
                                                                                                                     tGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGa                                                                                                                     <  2:351593/36‑1 (MQ=255)
                                                                                                                     tGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGa                                                                                                                     >  1:351593/1‑36 (MQ=255)
                                                                                                                     tGGCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTGGAAGATATGAAAGTCCTGTTCGACCAGATCCCGCTGGATAAAATGTCGGTTTCGATGACCATGAATGgc              >  1:725698/1‑139 (MQ=255)
                                                                                                                      ggatACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTGGAAGATATGAAAGTCCTGTTCGACCAGATCCCCCTGGATAAAATGTCGGTTTCGATCACCATGAATGgcg             <  2:870313/136‑1 (MQ=255)
                                                                                                                       gCTACGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTGGAAGATATGAAAGTCCTGTTCGACCAGATCCCGCTGGATAAAATGTCGGTTTCGATGACCATGAATGgcgc            <  2:851665/139‑1 (MQ=255)
                                                                                                                          aCGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTGGAAGATATGAAAGTCCTGTTCGACCAGATCCCGCTGGATAAAATGTCGGTTTCGATGACCATGAATGGCGCAGt         <  2:1310491/139‑1 (MQ=255)
                                                                                                                          aCGACTCCGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTGGAAGATATGAAAGTCCTGTTCGACCAGATCCCGCTGGATAAAATGTCGGTTTCGATGACCATGAATGGCGCAGt         <  1:1211731/139‑1 (MQ=255)
                                                                                                                                 cGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTGGAAGATATGAAAGTCCTGTTCGACCAGATCCCGCTGGATAAAATGTCGGTTTCGATGACCATGAATGGCGCAGTGCTACCa  >  1:1231953/1‑139 (MQ=255)
                                                                                                                                 cGATAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTGGAAGATATGAAAGTCCTGTTCGACCAGATCCCGCTGGATAAAATGTCGGTTTCGATGACCATGAATGGCGCAGTGCTACCa  >  2:499702/1‑139 (MQ=255)
                                                                                                                                   aTAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGaca                                                                                        >  2:18817/1‑51 (MQ=255)
                                                                                                                                   aTAGCCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGaca                                                                                        <  1:18817/51‑1 (MQ=255)
                                                                                                                                      |                                                                                                                                     
GACCATCCGTCAGTATGCTGGTTTTTCAACAGCAAAAGAGTCCAACGCTTTTTATCGCCGTAACCTGGCCGCCGGGCAAAAAGGTCTTTCCGTTGCGTTTGACCTTGCCACCCACCGTGGCTACGACTCCGATAACCCGCGCGTGGCGGGCGACGTCGGCAAAGCGGGCGTCGCTATCGACACCGTGGAAGATATGAAAGTCCTGTTCGACCAGATCCCGCTGGATAAAATGTCGGTTTCGATGACCATGAATGGCGCAGTGCTACCA  >  NC_000913/3061068‑3061335

Alignment Legend
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 27 ≤ ATCG/ATCG < 35 ≤ ATCG/ATCG < 39 ≤ ATCG/ATCG < 40 ≤ ATCG/ATCG
Unaligned base: atcg    Masked matching base: atcg    Alignment gap: ‑    Deleted base: ‑