Predicted mutation
evidence seq id position mutation freq annotation gene description
RA NC_002947 5,241,983 T→C 7.2% E398E (GAA→GAG hmgB ← fumarylacetoacetase

Read alignment evidence...
  seq id position ref new freq score (cons/poly) reads annotation genes product
*NC_0029475,241,9830TC 7.2% 156.5 / 2.5 55E398E (GAA→GAGhmgBfumarylacetoacetase
Reads supporting (aligned to +/- strand):  ref base T (25/26);  new base C (2/2);  total (27/28)
Fisher's exact test for biased strand distribution p-value = 1.00e+00
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 7.94e-01

CGAGGTGGAACGGTAATAGGTGTACAGCTCCATACCCCTGCCTCCTCAGTTGGCTGCGATGACCGTGCCGCGGCACTCACCGAAACCGATGCTGGCCACGCCGTCACGTGTGCAGCGGGCACGCAGGATGATTTCGTCGCCGTCTTCGAGGAATTTGCGCACCTCGCCGCTGGCCAGCTCGACCGGCAGTTTGCCGCCTTCGGTGATCTCCAGCAGGCTACCGAACGATCCCGGCGTGGCGCCCGACAGCGTGCCCGACCCGAACAGGTCACCTGGCTGCAGCTGGCAGCCGT  >  NC_002947/5241839‑5242131
                                                                                                                                                |                                                                                                                                                     
cGAGGTGGAACGGTAATAGGTGTAAAGCTCCATACCCCTGCCTCCTCAGTTGGCTGCGATGACCGTGCCGCGGCACTCACCGAAACCGATGCTGGCCACGCCGTCACGTGTGCAGCGGGCACGCAGGATGATTTCGTCGCCGTCTTCGa                                                                                                                                                   <  8:103840/149‑1 (MQ=255)
 gAGGTGGAACGGTAATAGGTGTACAGCTCCATACCCCTGCCTCCTCAGTTGGCTGCGATGACCGTGCCGCGGCACTCACCGAAACCGATGCTGGCCACGCCGTCACGTGTGCAGCGGGCACGCAGGATGATTTCGTCACCGTCTTCGAg                                                                                                                                                  >  5:189479/1‑149 (MQ=255)
       gAACGGTAATAGGTGTACAGCTCCATACCCCTGCCTCCTCAGTTGGCTGCGATGACCGTGCCGCGGCACTCACCGAAACCGATGCTGGCCACGCCGTCACGTGTGCAGCGGGCACGCAGGATGATTTCGTCGCCGTCTTCGAGGAAttt                                                                                                                                            >  3:90407/1‑149 (MQ=255)
       gAACGGTAATAGGTGTACAGCTCCATACCCCTGCCTCCTCAGTTGGCTGCGATGACCGTGCCGCGGCACTCACCGAAACCGATGCTGGCCACGCCGTCACGTGTGCAGCGGGCACGCAGGATGATTTCGTCGCCGTCTTCGAGGAAttt                                                                                                                                            <  6:113650/149‑1 (MQ=255)
               aTAGGTGTACAGCTCCATACCCCTGCCTCCTCAGTTGGCTGCGATGACCGTGCCGCGGCACTCACCGAAACCGATGCTGGCCACGCCGTCACGTGTGCAGCGGGCACGCAGGATGATTTCGTCGCCGTCTTCGAGGAATTTGCGCACCt                                                                                                                                    >  8:204479/1‑149 (MQ=255)
                   gtgtACAGCTCCATACCCCTGCCTCCTCAGTTGGCTGCGATGACCGTGCCGCGGCACTCACCGAAACCGATGCTGGCCACGCCGTCACGTGTGCAGCGGGCACGCAGGATGATTTCGTCGCCGTCTTCGAGGAATTTGCGCACCTcgcc                                                                                                                                >  3:255749/1‑149 (MQ=255)
                        cAGCTCCATACCCCTGCCTCCTCAGTTGGCTGCGATGACCGTGCCGCGGCACTCACCGAAACCGATGCTGGCCACGCCGTCACGTGTGCAGCGGGCACGCAGGATGATTTCGTCGCCGTCTTCGAGGAATTTGCGCACCTCGCCGCTgg                                                                                                                           <  7:200135/149‑1 (MQ=255)
                        cAGCTCCATACCCCTGCCTCCTCAGTTGGCTGCGATGACCGTGCCGCGGCACTCACCGAAACCGATGCTGGCCACGCCGTCACGTGTGCAGCGGGCACGCAGGATGATTTCGTCGCCGTCTTCGAGGAATTTGCGCACCTCGCCGCTg                                                                                                                            <  2:50372/148‑1 (MQ=255)
                        cAGATCCTTACCCCTGCCTCCTCAGTTGGCTGCGATGAGCGTGCCGTGGCACTCTCCGATACCGATGCTGGCCACGCCGTCTCGTGTGCAGCGGGCACTCAGGATGATTTCGTCGCCGTCTTCGAGGAATTTGCGCACCTCGCCGCTg                                                                                                                            <  5:185828/148‑1 (MQ=255)
                         aGCTCCCTACCCCTGCCTCCTCATTTAGCTGCCATGACCTGGCCGCGGCACTCACCGAAACCGATGCTGGCCACGCCGTCACGTGTGCAGCGGGCACGCAGTATGATTTCGTCGCCGTCTTCGAGGAATTTGCGCACCTCGCCGCTGGc                                                                                                                         <  6:224295/149‑1 (MQ=255)
                         aGCTCCATACCCCTGCCTCCTCAGTTGGCTGCGATGACCGTGCCGCGGCACTCACCGAAACCGATGCTGGCCACGCCGTCACGTGTGCAGCGGGCACGCAGGATGATTTCGTCGCCGTCTTCGAGGAATTTgc                                                                                                                                          <  6:164460/133‑1 (MQ=255)
                         aGCTCCATACCCCTGCCTCCTCAGTTGGCTGCGATGACCGTGCCGCGGCACTCACCGAAACCGATGCTGGCCACGCCGTCACGTGTGCAGCGGGCACGCAGGATGATTTCGTCGCCGTCTTCGAGGAATTTgc                                                                                                                                          >  5:164460/1‑133 (MQ=255)
                              cATACCCCTGCCTCCTCAGTTGGCTGCGATGACCGTGCCGCGGCACTCACCGAAACCGATGCTGGCCACGCCGTCACGTGTGCAGCGGGCACGCAGGATGATTTCGTCGCCGTCTTCGAGGAATTTGCGCACCTCGCCGCTGGCCAg                                                                                                                      <  8:208685/147‑1 (MQ=255)
                                     cTGCCTCCTCAGTTGGCTGCGATGACCGTGCCGCGGCACTCACCGAAACCGATGCTGGCCACGCCGTCACGTGTGCAGCGGGCACGCAGGATGATTTCGTCGCCGTCTTCGAGGAATTTGCGCACCTCGCCGCTGGCCAGCTCGACCgg                                                                                                             >  8:183804/1‑149 (MQ=255)
                                        cctcctCAGTTGGCTGCGATGACCGTGCCGCGGCACTCACCGAAACCGATGCTGGCCACGCCGTCACGTGTGCAGCGGGCACGCAGGATGATTTCGTCGCCGTCTTCGAGGAATTTGCGCACCTCGCCGCTGGCCAGCTCGACCGGCa                                                                                                           <  6:154243/148‑1 (MQ=255)
                                          tcctcAGTTGGCTGCGATGACCGTGCCGCGGCACTCACCGAAACCGATGCTCGCCACGCCGTCACCTGTGCAGCGGGCACGCAGGATGATTTCGTCTCCCTCTTCGAGGATATTGCGCACATCGCCGCTGGCCAGCACGACCGGccggt                                                                                                        >  7:179348/1‑145 (MQ=255)
                                           cctcAGTTGGCTGCGATGACCGTGCCGCGGCACTCACCGAAACCGATGCTGGCCACGCCGTCACGTGTGCAGCGGGCACGCAGGATGATTTCGTCGCCGTCTTCGAGGAATTTGCGCACCTCGCCGCTg                                                                                                                            <  8:93989/129‑1 (MQ=255)
                                           cctcAGTTGGCTGCGATGACCGTGCCGCGGCACTCACCGAAACCGATGCTGGCCACGCCGTCACGTGTGCAGCGGGCACGCAGGATGATTTCGTCGCCGTCTTCGAGGAATTTGCGCACCTCGCCGCTg                                                                                                                            >  7:93989/1‑129 (MQ=255)
                                            ctcAGTTGGCTGCGATGACCGTGCCGCGGCACTCACCGAAACCGATGCTGGCCACGCCGTCACGTGTGCAGCGGGCACGCAGGATGATTTCGTCGCCGTCTTCGAGGAATTTGCGCACCTCGCCGCTGGCCAGCTCGACCGGCAGTTTg                                                                                                      >  2:196506/1‑149 (MQ=255)
                                                   ggCTGCGATGACCGTGCCGCGGCACTCACCGAAACCGATGCTGGCCACGCCGTCACGTGTGCAGCGGGCACGCAGGATGATTTCGTCGCCGTCTTCGAGGAATTTGCGCACCTCGCCGCTGGCCAGCTCGACCGGCAGTTTGCCGCCtt                                                                                               >  8:248483/1‑149 (MQ=255)
                                                       gCGATGACCGTGCCGCGGCACTCACCGAAACCGATGCTGGCCACGCCGTCACGTGTGCAGCGGGCACGCAGGATGATTTCGTCGCCGTCTTCGAGGAATTTGCGCACCTCGCCGCTGGCCAGCTCGACCGGCAGTTTGCCGCCTTCGGt                                                                                           >  2:207704/1‑149 (MQ=255)
                                                        cGATGACCGTGCCGCGGCACTCACCGAAACCGATGCTGGCCACGCCGTCATGTGTGCAGCGGGCACGCAGGATGATTTCGTCGCCGTCTTCGAGGAATTTGCGCACCTCGCCGCTGGCCCAGCTCGACCGGCAGTTTGCCGCCTTCGGt                                                                                           <  1:196691/149‑1 (MQ=255)
                                                        cGATGACCGTGCCGCGGCACTCACCGAAACCGATGCTGGCCACGCCGTCACGTGTGCAGCGGGCACGCAGGATGATTTCGTCGCCGTCTTCGAGGAATTTGCGCACCTCGCCGCTGGCCAGCTCGACCGGCAGTTTGCCGCCTTCgg                                                                                            <  7:204479/147‑1 (MQ=255)
                                                        cGATGACCGTGCCGCGGCACTCACCGAAACCGATGCTGGCCACGCCGTCACGTGTGCAGCGGGCACGCAGGATGATTTCGTCGCCGTCTTCGAGGAATTTGCGCACCTCGCCGCTGGCCAGCTCGACCGGCAGTTTGCCGCCTTCGGTg                                                                                          <  7:248483/149‑1 (MQ=255)
                                                        cGATGACCGTGCCGCGGCACTCACCGAAACCGATGCTGGCCACGCCGTCACGTGTGCAGCGGGCACGCAGGATGATTTCGTCACCGTCTTCGAGGAATTTGCGCACCTCGCCGCTGGCCAGCTCGACCGGCAGTTTGCCGCCTTCGGTg                                                                                          <  6:189479/149‑1 (MQ=255)
                                                         gATGACCGTGCCGCGGCACTCACCGAAACCGATGCTGGCCACGCCGTCACGTGTGCAGCGGGCACGCAGGATGATTTCGTCGCCGTCTTCGAGGAATTTGCGCACCTCGCCGCTGGCCAGCTCGACCGGCAGTTTGCCGCCTTCGGTGa                                                                                         >  5:26733/1‑149 (MQ=255)
                                                                   ccGCGGCACTCACCGAAACCGATGCTGGCCACGCCGTCACGTGTGCAGCGGGCACGCAGGATGATTTCGTCGCCGTCCTCGAGGAATTTGCGCACCTCGCCGCTGGCCAGCTCGAcc                                                                                                               <  2:297498/117‑1 (MQ=255)
                                                                   ccGCGGCACTCACCGAAACCGATGCTGGCCACGCCGTCACGTGTGCAGCGGGCACGCAGGATGATTTCGTCGCCGTCCTCGAGGAATTTGCGCACCTCGCCGCTGGCCAGCTCGAcc                                                                                                               <  2:252816/117‑1 (MQ=255)
                                                                   ccGCGGCACTCACCGAAACCGATGCTGGCCACGCCGTCACGTGTGCAGCGGGCACGCAGGATGATTTCGTCGCCGTCCTCGAGGAATTTGCGCACCTCGCCGCTGGCCAGCTCGAcc                                                                                                               >  1:297498/1‑117 (MQ=255)
                                                                   ccGCGGCACTCACCGAAACCGATGCTGGCCACGCCGTCACGTGTGCAGCGGGCACGCAGGATGATTTCGTCGCCGTCCTCGAGGAATTTGCGCACCTCGCCGCTGGCCAGCTCGAcc                                                                                                               >  1:252816/1‑117 (MQ=255)
                                                                    cgcgGCACTCACCGAAACCGATGCTGGCCACGCCGTCACGTGTGCAGCGGGCACGCAGGATGATTTCGTCGCCGTCTTCGAGGAATTTGCGCACCTCGCCGCTGGCCAGCTCGACCGGCAGTTTGCCGCCTTCGGTGATCTCCAGCAgg                                                                              <  7:183804/149‑1 (MQ=255)
                                                                      cgGCACTCACCGAAACCGATGCTGGCCACGCCGTCACGTGTGCAGCGGGCACGCAGGATGATTTCGTCGCCGTCTTCGAGGAATTTGCGCACCTCGCCGCTGGCCAGCTCGACCgg                                                                                                             >  8:103424/1‑116 (MQ=255)
                                                                      cgGCACTCACCGAAACCGATGCTGGCCACGCCGTCACGTGTGCAGCGGGCACGCAGGATGATTTCGTCGCCGTCTTCGAGGAATTTGCGCACCTCGCCGCTGGCCAGCTCGACCgg                                                                                                             <  7:103424/116‑1 (MQ=255)
                                                                              aCCGAAACCGATGCTGGCCACGCCGTCACGTGTGCAGCGGGCCCGCAGGATGATTTCGTCGCCGTCTTCGAGGAATTTGCGCACCTCGCCGCTGGCCAGCTCGCCCGGCAGTTTGCCGCCTTCGGTGATCTCCAGCAGGCTCCCGAAc                                                                     >  6:48884/1‑148 (MQ=255)
                                                                                 gAAACCGATGCTGGCCACGCCGTCACGTGTGCAGCGGGCACGCAGGATGATTTCGTCGCCGTCTTCGAGGAATTTGCGCACCTCGCCGCTGGCCAGCTCGACCGGCAGTTTGCCGCCtt                                                                                               >  6:237612/1‑119 (MQ=255)
                                                                                 gAAACCGATGCTGGCCACGCCGTCACGTGTGCAGCGGGCACGCAGGATGATTTCGTCGCCGTCTTCGAGGAATTTGCGCACCTCGCCGCTGGCCAGCTCGACCGGCAGTTTGCCGCCtt                                                                                               <  5:237612/119‑1 (MQ=255)
                                                                                    aCCGATGCTGGCCACGCCATCACGTGTGCAGCGGGCACGCAGGATGATTTCGTCGCCGTCTTCGAGGAATTTGCGCACCTCGCCGCTGGCCAGCTCGACCGGCAGTTTGCCGCCTTCGGTGATCTCCAGCAGGCTACCGAACGATCCCg                                                              >  2:259956/1‑149 (MQ=255)
                                                                                       gATGCTGGCCACGCCGTCACGTGTGCAGCGGGCACGCAGGATGATTTCGTCGCCGTCTTCGAGGAATTTGCGCACCTCGCCGCTGGCCAGCTCGACCGGCAGTTTGCCGCCTTCGGTGATCTCCAGCAGGCTACCGAACGATCCCGGCg                                                           <  1:196506/149‑1 (MQ=255)
                                                                                              gCCACGCCGTCACGTGTGCAGCGGGCACGCAGGATGATTTCGTCGCCGTCTTCGAGGAATTTGAGCACCTCGCCGCTGGCCAGCTCGACCGGCAGTTTGCCGCCTTCGGTGATCTCCAGCAGGCTACCGAACGATCCCGGCGTGGCGcc                                                    >  2:163700/1‑149 (MQ=255)
                                                                                                    ccGTCACGTGTGCAGCGGGCACGCAGGATGATTTCGTCGCCGTCTTCGAGGAATTTGCGCACCTCGCCGCTGGCCAGCTCGACCGGCAGTTTGCCGCCTTCGGTGATCTCCAGCAGGCTACCGAACGATCCCGGCGTGGCGCCCGACAg                                              <  1:207704/149‑1 (MQ=255)
                                                                                                                cAGCGGGCACGCAGGATGATTTCGTCGCCGTCTTCGAGGAATTTGCGCACCTCGCCGCTGGCCAGCTCGACCGGCAGTTTGCCGCCTTCGGTGATCTCCAGCAGGCTACCGAACGATCCCGGCGTGGCGCCCGACAGCGTGcccgaccc                                  <  6:26733/149‑1 (MQ=255)
                                                                                                                       cACGCAGGATGATTTCGTCGCCGTCTTCGAGGAATTTGCGCACCTCGCCGCTGGCCAGCTCGACCGGCAGTTTGCCGCCTTCGGTGATCTCCAGCAGGCTACCGAACGATCCCGGCGTGGCGCCCGACAGCGTGCCCGACCCGAACAgg                           >  2:138227/1‑149 (MQ=255)
                                                                                                                        aCGCAGGATGATTTCGTCGCCGTCTTCGAGGAATTTGCGCACCTCGCCGCTGGCCAGCTCGACCGGCAGTTTGCCGCCTTCGGTGATCTCCAGCAGGCTACCGAACGATCCCGGCGTGGCGCCCGACAGCGTGcccgaccc                                  >  7:245217/1‑141 (MQ=255)
                                                                                                                        aCGCAGGATGATTTCGTCGCCGTCTTCGAGGAATTTGCGCACCTCGCCGCTGGCCAGCTCGACCGGCAGTTTGCCGCCTTCGGTGATCTCCAGCAGGCTACCGAACGATCCCGGCGTGGCGCCCGACAGCGTGcccgaccc                                  <  8:245217/141‑1 (MQ=255)
                                                                                                                        aCGCAGGATGATTTCGTCGCCGTCTTCGAGGAATTTGCGCACCTCGCCGCTGGCCAGCTCGACCGGCAGTTTGCCGCCTTCGGTGATCTCCAGCAGGCTACCGAACGATCCCGGCGTGGCGCCCGACAGCGTGCCCGACCCGAACAGGt                          <  1:138227/149‑1 (MQ=255)
                                                                                                                        aCGCAGGATGATTTCGTCGCCGTCTTCGAGGAATTTGCGCACCTCGCCGCTGGCCAGCTCGACCGGCAGTTTGCCGCCTTCGGTGATCTCCAGCAGGCTACCGAACGATCCCGGCGTGGCGCCCGACAGCGTGCCCGACCCGAACAGGt                          <  4:255749/149‑1 (MQ=255)
                                                                                                                          gCAGGATGATTTCGTCGCCGTCTTCGAGGAATTTGCGCACCTCGCCGCTGGCCAGCTCGACCGGCAGTTTGCCGCCTTCGGTGATCTCCAGCAGGCTACCGAACGATCCCGGCGTGGCGCCCGACAGCGTGCCCGACCCGAACAGGTCa                        >  7:259120/1‑149 (MQ=255)
                                                                                                                              gatgatTTCGTCGCCGTCTTCGAGGAATTTGCGCACCTCGCCGCTGGCCAGCTCGACCGGCAGTTTGCCGCCTTCGGTGATCTCCAGCAGGCTACCGAACGATCCCGGCGTGGCGCCCGACAGc                                             >  1:26103/1‑124 (MQ=255)
                                                                                                                              gatgatTTCGTCGCCGTCTTCGAGGAATTTGCGCACCTCGCCGCTGGCCAGCTCGACCGGCAGTTTGCCGCCTTCGGTGATCTCCAGCAGGCTACCGAACGATCCCGGCGTGGCGCCCGACAGc                                             <  2:26103/124‑1 (MQ=255)
                                                                                                                                tgatTTCGTCGCCGTCTTCGAGGAATTTGCGCACCTCGCCGCTGGCCAGCTCGACCGGCAGTTTGCCGCCTTCGGTGATCTCCAGCAGGCTACCGAACGATCCCg                                                              <  6:313989/105‑1 (MQ=255)
                                                                                                                                tgatTTCGTCGCCGTCTTCGAGGAATTTGCGCACCTCGCCGCTGGCCAGCTCGACCGGCAGTTTGCCGCCTTCGGTGATCTCCAGCAGGCTACCGAACGATCCCg                                                              >  5:313989/1‑105 (MQ=255)
                                                                                                                                     tcgtcgCCGTCTTCGAGGAATTTGCGCACCTCGCCGCTGGCCAGCTCGACCGGCAGTTTGCCGCCTTCGGTGATCTCCAGCAGGCTACCGAACGATCCCGGCGTGGCGCCCGACAGCGTGCCCGACCCGAACAGGTCACCTGGATGCAg             >  6:205334/1‑149 (MQ=255)
                                                                                                                                            cGTCTTCGAGGAATTTGCGCACCTCGCCGCTGGCCAGCTCGACCGGCAGTTTGCCGCCTTCGGTGATCTCCAGCAGGCTACCGAACGATCCCGGCGTGGCGCCCGACAGCGTGCCCGACCCGAACAGGTCACCTGGCTGCAGCTGGCAg      >  2:214979/1‑149 (MQ=255)
                                                                                                                                            cGTCTACGAGGAATTAGCGCACCTCGCCGCTGGCCAGCTCGACCGGCTGTTTTCCGAGTTCGGTGATCTCCAGCAGGCTACCGAACGATCCCGGCCTGGCGCACGACAGCGTGCCCGACGCGAACAGGTCACCTGGCTGCAGCTGGCAg      <  2:264335/149‑1 (MQ=255)
                                                                                                                                             gTCTTCGAGGAATTTGCGCACCTCGCCGCTGGCCAGCTCGACCGGCAGTTTGCCGCCTTCGGTGATCTCCAGCAGGCTACCGAACGATCCCGGCGTGGCGCCCGACAGCGTGCCCGACCCGAACAGGTCACCTGGCTGCAGCTGGCAGc     >  8:221641/1‑149 (MQ=255)
                                                                                                                                                ttCGAGGAATTTGCGCACCTCGCCGCTGGCCAGCTCGACCGGCAGTTTGCCGCCTTCGGTGATCTCCAGCAGGCTACCGAACGATCCCGGCGTGGCGCCCGACAGCGTGCCCGACCCGAACAGGTCACCTGGCTGCAGCTGGCAGCCGt  >  8:109426/1‑149 (MQ=255)
                                                                                                                                                |                                                                                                                                                     
CGAGGTGGAACGGTAATAGGTGTACAGCTCCATACCCCTGCCTCCTCAGTTGGCTGCGATGACCGTGCCGCGGCACTCACCGAAACCGATGCTGGCCACGCCGTCACGTGTGCAGCGGGCACGCAGGATGATTTCGTCGCCGTCTTCGAGGAATTTGCGCACCTCGCCGCTGGCCAGCTCGACCGGCAGTTTGCCGCCTTCGGTGATCTCCAGCAGGCTACCGAACGATCCCGGCGTGGCGCCCGACAGCGTGCCCGACCCGAACAGGTCACCTGGCTGCAGCTGGCAGCCGT  >  NC_002947/5241839‑5242131

Alignment Legend
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 14 ≤ ATCG/ATCG < 21 ≤ ATCG/ATCG < 32 ≤ ATCG/ATCG < 36 ≤ ATCG/ATCG
Unaligned base: atcg    Masked matching base: atcg    Alignment gap:     Deleted base: