Predicted mutation
evidence seq id position mutation freq annotation gene description
RA NC_002947 3,038,153 C→T 7.5% A142V (GCC→GTC)  gbd → 4‑hydroxybutyrate dehydrogenase

Read alignment evidence...
  seq id position ref new freq score (cons/poly) reads annotation genes product
*NC_0029473,038,1530CT 7.5% 153.6 / 2.1 53A142V (GCC→GTC) gbd4‑hydroxybutyrate dehydrogenase
Reads supporting (aligned to +/- strand):  ref base C (27/22);  new base T (2/2);  total (29/24)
Fisher's exact test for biased strand distribution p-value = 1.00e+00
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 8.69e-01

CTCGGCGATCGACCTGGCCAAGGGGGTGGCCGTGTGTGCCCGGC‑ACGACGGCCCGTTGAAGAGCTTTGCGGTGATCGAGGGCGGCCTGGCCCGGATCACCCCGGCAACCGCGCCGGTGATTGCGGTGCCGACCACGGCCGGCACGGGGAGCGAGGTCGGGCGCGGTGCCATCCTGATACTCGATGACGGGCGCAAGGTGGGGGTGATCTCGCCCCATGTGGTGCCCAAGGCCGCCATCTGTGACCCGTCATTGACCCTCGGGCTGCCGGCACAACTCACGG  >  NC_002947/3038016‑3038296
                                                                                                                                          |                                                                                                                                               
cTCGGCGATCGACCTGGCCAAGGGGGTGGCCGTCTGTGCCCGGC‑ACGACGGCCCGTTGAAGAGCTTTGCGGTGATCGAGGGCGGCCTGGCCCGGATCACCCCGGCAACCGCGCCGGTGATTGCGGTGCCGACCACGGCCGGCACggg                                                                                                                                        >  1:64441/1‑147 (MQ=255)
 tCGGCGATCGACCTGGCCAAGGGGGTGGCCGTGTGTGCCCGGCGACGACGGCCCGTTGAAGAGCTTTGCGGTGATCGAGGGCGGCCTGGCCCGGATCACCCCGGCAACCGCGCCGGTGATTGCGGTGCCGACCACGGCCGGCACggg                                                                                                                                        >  1:249222/1‑147 (MQ=255)
  cGGCGATCGACCTGGCCAAGGGGGTGGCCGTGTGTGCCCGGC‑ACGACGGCCCGTTGAAGAGCTTTGCGGTGATCGAGGGCGGCCTGGCCCGGATCACCCCGGCAACCGCGCCGGTGATTGCGGTGCCGACCACGGCCGGCACGGGGAGc                                                                                                                                    <  7:284818/149‑1 (MQ=255)
           aCCTGGCCAAGGGGGTGGCCGTGTGTGCCCGGC‑ACGACGGCCCGTTGAAGAGCTTTGCGGTGATCGAGGGCGGCCTGGCCCGGATCACCCCGGCAACCGCGCCGGTGATTGCGGTGCCGACCACGGCCGGCACGGGGAGCGAGGTCggg                                                                                                                           >  7:72519/1‑149 (MQ=255)
                gCCAAGGGGGTGGCCGTGTGTGCCCGGC‑ACGACGGCCCGTTGAAGAGCTTTGCGGTGATCGAGGGCGGCCTGGCCCGGATCACCCCGGCAACCGCGCCGGTGATTGCGGTGCCGACCACGGCCGGCACGGGGAGCGAGGTCGGGCGCgg                                                                                                                      <  8:72519/149‑1 (MQ=255)
                  cAAGGGGGTGGCCGTGTGTGCCCGGC‑ACGACGGCCCGTTGAAGAGCTTTGCGGTGATCGAGGGCGGCCTGGCCCGGATCACCCCGGCAACCGCGCCGGTGATTGCGGTGCCGACCACGGCCGGCACGGGGAGCGAGGTCGGGCGCGGTg                                                                                                                    >  8:40859/1‑149 (MQ=255)
                    aGGGGGTGGCCGTGTGTGCCCGGC‑ACGACGGCCCGTTGAAGAGCTTTGCGGTGATCGAGGGCGGCCTGGCCCGGATCACCCCGGCAACCGCGCCGGTGATTGCGGTGCCGACCACGGCCGGCACGGGGAGCGAGGTCGGGCGCGGTGcc                                                                                                                  <  2:249222/149‑1 (MQ=255)
                    aGGGGGTGGCCGTGTGTGCCCGGC‑ACGACGGCCCGTTGAAGAGCTTTGCGGTGATCGAGGGCGGCCTGGCCCGGATCACCCCGGCAACCGCGCCGGTGATTGCGGTGCCGACCACGGCCGGCACGGGGAGCGAGGTCGGGCGCGGTGcc                                                                                                                  <  2:64441/149‑1 (MQ=255)
                    aGGGGGTGGCCGTGTGTGCCCGGC‑ACGACAGCCCGTTGAAGAGCTTTGCGGTGATCGAGGGCGGCCTGGCCCGGATCACCCCGGCAACCGCGCCGGTGATTGCGGTGCCGACCACGGCCGGCACGGGGAGCGAGGTCGGGCGCGGTGcc                                                                                                                  <  8:47972/149‑1 (MQ=255)
                       gggTGGCCGTGTGTGCCCGGC‑ACGACGGCCCGTTGAAGAGCTTTGCGGTGATCGAGGGCGGCCTGGCCCGGATCACCCCGGCAACCGCGCCGGTGATTGCGGTGCCGACCACGGCCGGCACGGGGAGCGAGGTCGGGCGCGGTGCCATc                                                                                                               <  2:358979/149‑1 (MQ=255)
                          tGGCCGTCTGTGCCCGGC‑ACGACGGCCCGTTGAAGAGCTTTGCGGTCATCGACGGCGGCCTGGCCCGGATCACCCCGGCAACCGCGCCGGTGATTGCGGTGCCGACCCCCGCCGGCACGAGGAGCGAGGTCGGGCGCGGTGCCATCCt                                                                                                             >  8:319846/1‑148 (MQ=255)
                            gCCGTGTGTGCCCGGC‑ACGACGGCCCGTTGAAGAGCTTTGCGGTGATCGAGGGCGGCCTGGCCCGGATCACCCCGGCAACCGCGCCGGTGATTGCGGTGCCGACCACGGCCGGCACGGGGAGCGAGGTCGGGCGCGGTGCCATCCTGAt                                                                                                          <  7:40859/149‑1 (MQ=255)
                              cGTGTGTGCCCGGC‑ACGACGGCCCGTTGAAGAGCTTTGCGGTGATCGAGGGCGGCCTGGCCCGGATCACCCCGGCAACCGCGCCGGTGATTGCGGTGCCGACCACGGCCGGCACGGGGAGCGAGGTCGGGCGCGGTGCCATCCTGATAc                                                                                                        >  1:108584/1‑149 (MQ=255)
                                     gCCCGGC‑ACGACGGCCCGTTGAAGAGCTTTGCGGTGATCGAGGGCGGCCTGGCCCGGATCACCCCGGCAACCGCGCCGGTGATTGCGGTGCCGACCACGGCCGGCACGGGGAGCGAGGTCGGGCGCGGTGCCATCCTGATACTCGATGa                                                                                                 >  1:13308/1‑149 (MQ=255)
                                      cccGGC‑ACGACGGCCCGTTGAAGAGCTTTGCGGTGATCGAGGGCGGCCTGGCCCGGATCACCCCGGCAACCGCGCCGGTGATTGCGGTGCCGACCACGGCCGGCACGGGGAGCGAGGTCGGGCGCGGTGCCATCCTGATACTCGATGAc                                                                                                <  8:30667/149‑1 (MQ=255)
                                                    cccGGTGAAGAGCTTTCAGGTGATCGCGGGCGGCCTGGCCCGGATCACCCCGGCAACCGCGCAGGGGATGGCGCTGCCGACCCCGGCCGGCAGGGGGCGCGAGGTCGGGCGCGTTGGCAGCGTGAGACTCGATGACGGCCGCAAGGTgg                                                                                   >  8:19648/1‑149 (MQ=255)
                                                      cGTTGAAGAGCTTTGCTGTTTTGGAGGGCTGCCTGGGCCGTATCACCCCGGCAACCGCGCCGGTGATTGGGGTGCCGACCACGGCCGGCACGGGGAGCGAGGTCGTGCGCGGTGCCATCCTGATACTCGATGACGGGCGCAAGGTgggg                                                                                 <  8:188753/149‑1 (MQ=255)
                                                           aaGAGCTTTGCGATGATCGAGGGCGGCCTGGCCCGGATCACCCCGGCAACCGCGCCGGTGATTGCGGTGCCGACCACGGCCGGCACGGGGAGCGAGGTCGGGCGCGGTGCCATCCTGATACt                                                                                                       >  5:124241/1‑122 (MQ=255)
                                                            agagCTTTGCGGTGATCGAGGGCGGCCTGGCCCGGATCACCCCGGCAACCGCGCCGGTGATTGCGGTGCCGACCACGGTCGGCACGGGGAGCGAGGTCGGGCGCGGTg                                                                                                                    <  5:150210/108‑1 (MQ=255)
                                                            agagCTTTGCGGTGATCGAGGGCGGCCTGGCCCGGATCACCCCGGCAACCGCGCCGGTGATTGCGGTGCCGACCACGGTCGGCACGGGGAGCGAGGTCGGGCGCGGTg                                                                                                                    >  6:150210/1‑108 (MQ=255)
                                                                cTTTGCGGTGATCGAGGGCGGCCTGGCCCGGATCACCCCGGCAACCGCGCCGGTGATTGCGGTGCCGACCACGGCCGGCACGGGGAGCGAGGTCGGGCGCGGTGCCAt                                                                                                                <  7:292576/108‑1 (MQ=255)
                                                                cTTTGCGGTGATCGAGGGCGGCCTGGCCCGGATCACCCCGGCAACCGCGCCGGTGATTGCGGTGCCGACCACGGCCGGCACGGGGAGCGAGGTCGGGCGCGGTGCCAt                                                                                                                >  8:292576/1‑108 (MQ=255)
                                                                    gCGGTGATCGAGGGCGGCCTGGCCCGGATCACCCCGGCAACCGCGCCGGTGATTGCGGTGCCGACCACGGCCGGCACGGGGAGCGAGGTCGGGCGCGGTGCCATCCTGATACTCGATGACGGGCGCAAGGTGGGGGTGATCTCGcccc                                                                    <  2:13308/148‑1 (MQ=255)
                                                                            cGAGGGCGGCCTGGCCCGGATCACCCCGGCAACCGCGCCGGTGATTGCGGTGCCGACCACGGCCGGCACGGGGAGCGAGGTCGGGCGCGGTGCCATCCTGATACTCGATGACGGGCACAAGGTGGGGGTGATCTCGCCCCATGTGGTGc                                                           >  3:89090/1‑149 (MQ=255)
                                                                              aGGGCGGCCTGGCCCGGATCACCCCGGCAACCGCGCCGGTGATTGCGGTGCCGACCACGGCCGGCACGGGGAGCGAGGTCGGGCGCGGTGCCATCCTGATACTCGATGACGGGCGCAAGGTGGGGGTGATCTCGCCCCATGTGGTGcc                                                          >  7:218040/1‑148 (MQ=255)
                                                                                 gcgggCTGGCCCGGATCACCCCGGCAACCGCGCCGGTGATTGCGGTGCCGACCACGGCCGGCAGGGGGAGCGAGGTCGGGCGCGGTGCCATCCTGATACTCGATGACGGGCGCAAGGTGGGGGTGATCTCGCCCCATGTGGTGCCCAAg                                                      <  7:319846/149‑1 (MQ=255)
                                                                                 gcggcCTGGCCCGGATCACCCCGGCAACCGCGCCGGTGATTGCGGTGCCGACCACGGCCGGCACGGGGAGCGAGGTCGGGCGCGGTGCCATCCTGATACTCGATGACGGGCGCAAGGTGGGGGTGATCTCGCCCCATGTGGTGCCCAAg                                                      >  5:197027/1‑149 (MQ=255)
                                                                                     ccTGGCCCGGATCCCCCCGGCAACCGCGCCGGGGATTGCGGTGCCGCCCACGGCCGGCACGGGGAGCGCGGGCGGGCGCGGTGCCATCCGGAGCCTCGATGACGGGCGCAAGGTGGGGGTGAGCTCGCCCCAGGTGGTGCCCAAGgccg                                                  >  7:144128/1‑149 (MQ=255)
                                                                                         gCCCGGATCACCCCGGCAACCGCGCCGGTGATTGCGGTGCCGACCACGGCCGGCACGGGGAGCGAGGTCGGGCGCGGTGCCATCCTGATACTCGATGACGGGCGCAAGGTGGGGGTGATCTCGCCCCATGTGGTGCCCAAGGCCGCCAt                                              >  5:253738/1‑149 (MQ=255)
                                                                                             ggATCACCCCGGCAACCGCGCCGGTGATTGCGGTGCCGACCACGGCCGGCACGGGGAGCGAGGTCGGGCGCGGTGCCATCCTGATACTCGATGACGGGCGCAAGGTGGGGGTGATCTCGCCCCATGTGGTGCCCAAGGCCGCCATCtgt                                          >  1:195653/1‑149 (MQ=255)
                                                                                                    cccGGCAACCGCGCCGGTGATTGCGGTGCCGACCACGGCCGGCACGGGGAGCGAGGTCGGGCGCGGTGCCATCCTGATACTCGATGACGGGCGCAAGGTggg                                                                                  >  8:255961/1‑102 (MQ=255)
                                                                                                    cccGGCAACCGCGCCGGTGATTGCGGTGCCGACCACGGCCGGCACGGGGAGCGAGGTCGGGCGCGGTGCCATCCTGATACTCGATGACGGGCGCAAGGTggg                                                                                  <  7:255961/102‑1 (MQ=255)
                                                                                                     ccGGCAACCGCGCCGGTGATTGCGGTGCCGACCACGGCCGGCACGGGGAGCGAGGTCGGGCGCGGTGCCATCCTGATACTCGATGACGGGCGCAAGGTGGGGGTGATCTCGCCCCATGTGGTGCCCAAGGCCGCCATCTGTGACCCGTc                                  <  2:195653/149‑1 (MQ=255)
                                                                                                      cGGCATCCGCGCCGGTGATGGCGTTGCCGACGACGGCCGGCACGGGGAGCTAGGTGGGGCGCGGTGCCATCCTGATACTCTATGACGGGCGCAAGGTGGGGGTGATCTCGCCCCATGTGGTGCCCAAGGCCGCCATCTGTGACCCGTCa                                 <  7:19648/149‑1 (MQ=255)
                                                                                                            ccGCGCCGGTGATTGCGGTGCCGACCACGGCCGGCACGGGGAGCGAGGTCGGGCGCGGTGCCATCCTGATACTCGATGACGGGCGCAAGGTGGGGGTGATCTCGCCCCATGTGGTGCCCAAGgccgc                                                 <  6:278469/127‑1 (MQ=255)
                                                                                                            ccGCGCCGGTGATTGCGGTGCCGACCACGGCCGGCACGGGGAGCGAGGTCGGGCGCGGTGCCATCCTGATACTCGATGACGGGCGCAAGGTGGGGGTGATCTCGCCCCATGTGGTGCCCAAGgccgc                                                 >  5:278469/1‑127 (MQ=255)
                                                                                                                gcCGGTGATTGCGGTGCCGACCACGGCCGGCACGGGGAGCGAGGTCGGGCGCGGTGCCATCCTGATACTCGATGACGGGCGCAAGGTGGGGGTGATCTCGCCCCATGTGGTGCCCAAGGCCGCCATCTGTGACCCGTCATTGACCCTCg                       <  2:108584/149‑1 (MQ=255)
                                                                                                                 ccGGTGATTGCGGTGCCGACCACGGCCGGCACGGGGAGCGAGGTCGGGCGCGGTGCCATCCTGATACTCGATGACGGGCGCAAGGTGGGGGTGATCTCGCCCCATGTGGTGCCCAAGGCCGCCATCTGTGACCCGTCATTGACCCTCgg                      >  7:1389/1‑149 (MQ=255)
                                                                                                                 ccGGTGATTGCGGTGCCGACCACGGCCGGCACGGGGAGCGAGGTCGGGCGCGGTGCCATCCTGATACTCGATGACGGGCACAAGGTGGGGGTGATCTCGCCCCATGTGGTGCCCAAGGCCGCCATCTGTGACCCGTCATTGACCCTCgg                      <  4:89090/149‑1 (MQ=255)
                                                                                                                  cGGTGATTGCGGTGCCGACCACGGCCGGCACGGGGAGCGAGGTCGGGCGCGGTGCCATCCTGATACTCGATGACGGGCGCAAGGTGGGGGTGATCTCGCCCCATGTGGTGCCCAAGGCCGCCATCTGTGACCCGTCATTGACCCTCggg                     <  8:1389/149‑1 (MQ=255)
                                                                                                                  cGGTGATTGCGGTGCCGACCACGGCCGGCACGGGGAGCGAGGTCGGGCGCGGTGCCATCCTGATACTCGATGACGGGCGCAAGGTGGGGGTGAGCTCGCCCCATGTGGTGCCCAAGGCCGCCATCTGTGACCCGTCATTGACCCTCggg                     <  1:36031/149‑1 (MQ=255)
                                                                                                                    gTGATTGCGGTGCCGACCACGGCCGGCACGGGGAGCGAGGTCGGGCGCGGTGCCATCCTGATACTCGATGACGGGCGCAAGGTGGGGGTGATCTCGCCCCATGTGGTGCCCAAGGCCGCCATCTGTGACCCGTCATTGACCCTCGGGCt                   >  6:44210/1‑149 (MQ=255)
                                                                                                                           cGGTGCCGACCACGGCCGGCACGGGGAGCGAGGTCGGGCGCGGTGCCATCCTGATACTCGATGACGGGCGCAAGGTGGGGGTGATCTCGCCCCATGTGGTGCCCAAGGCCGCCATCTGTGACCCGTCATTGACCCTCGGGCTGCCGGca            >  1:319514/1‑149 (MQ=255)
                                                                                                                            cgTGCCGGCCGTGGTCGGCACGGGGAGCGAGGTCGGGCGCGGTGCCATCCTGATACTCGATGACGGGCGCAAGGTGGGGGTGATCTCGCCCCATGTGGTGCCCAAGGCCGCCATCTGTGACCCGTCATTGACCCTCGGGCTGCCgg              >  8:49103/2‑146 (MQ=255)
                                                                                                                            cgTGCCGGCCGTGGTCGGCACGGGGAGCGAGGTCGGGCGCGGTGCCATCCTGATACTCGATGACGGGCGCAAGGTGGGGGTGATCTCGCCCCATGTGGTGCCCAAGGCCGCCATCTGTGACCCGTCATTGACCCTCGGGCTGCCgg              <  7:49103/145‑1 (MQ=255)
                                                                                                                              tGCCGACCACGGCCGGCACGGGGAGCGAGGTCGGGCGCGGTGCCATCCTGATACTCGATGACGGGCGCAAGGTGGGGGTGATCTCGCCCCATGTGGTGCCCAAGGCCGCCATCTGTGACCCGTCATTGACCCTCGGGCTGCCGGCACaa         >  7:13114/1‑149 (MQ=255)
                                                                                                                                ccGACCACGGCCGGCACGGGGAGCGAGGTCGGGCGCGGTGCCATCCTGATACTCGATGACGGGCGCAAGGTGGGGGTGATCTCGCCCCATGTGGTGCCCAAGGCCGCCATCTGTGACCCGTCATTGACCCTCGGGCTGCCGGCACAACt       >  5:176561/1‑149 (MQ=255)
                                                                                                                                   aCCACGGCCGGCACGGGGAGCGAGGTCGGGCGCGGTGCCATCCTGATACTCGATGACGGGCGCAAGGTGGGGGTGATCTCGCCCCATGTGGTGCCCAAGGCCGCCATCTGTGACCCGTCATTGACCCTCGGGCTGCCGGCACAACTCAc    >  4:249502/1‑149 (MQ=255)
                                                                                                                                   aCCACGGCCGGCACGGGGAGCGAGGTCGGGCGCGGTGCCATCCTGATACTCGATGACGGGCGCAAGGTGGGGGTGATCTCGCCCCATGTGGTGCCCAAGGCCGCCATCTGTGACCCGTCATTGACCCTCGGGCTGCCGGCACAACTCAc    >  2:190726/1‑149 (MQ=255)
                                                                                                                                   aCCACGGCCGGCACGGGGAGCGAGGTCGGGCGCGGTGCCATCCTGATACGCGATGACGGGCGCAAGGTGGGGGTGATCTCGCCCCATGTGGTGCCCAAGGCCGCCATCTGTGACCCGTCAGTGACCCTCGGGCTGCCGGCACAACTCAc    >  6:367436/1‑149 (MQ=255)
                                                                                                                                     cACGGCCGGCACGGGGAGCGAGGTCGGGCGCTGTGCCATCCTGATACTCGATGACGGGCGCAAGCTGGGGGTGATCTCGCCCCATGTGGTGCCCAAGGCCGCCATCTGTGACCCGTCATTGACCCTCGGGCTGCCGGCACAACTCACgg  <  4:294720/149‑1 (MQ=255)
                                                                                                                                     cACGGCCGGCACGGGGAGCGAGGTCGGGCGCGGTGCCATCCTGATACTCGATGACGGGCGCAAGGTGGGGGTGATCTCGCCCCATGTGGTGCCCAAGGCCGCCATCTGTGACCCGTCATTGACCCTCGGGCTGCCGGCACAACTCACgg  <  5:338454/149‑1 (MQ=255)
                                                                                                                                     cACGGCCGGCACGGGGAGCGAGGTCGGGCGCGGTGCCATCCTGATACTCGATGACGGGCGCAAGGTGGGGGTGATCTCGCCCCATGTGGTGCCCAAGGCCGCCATCTGTGACCCGTCATTGACCCTCGGGCTGCCGGCACAACTCACgg  >  6:338454/1‑149 (MQ=255)
                                                                                                                                          |                                                                                                                                               
CTCGGCGATCGACCTGGCCAAGGGGGTGGCCGTGTGTGCCCGGC‑ACGACGGCCCGTTGAAGAGCTTTGCGGTGATCGAGGGCGGCCTGGCCCGGATCACCCCGGCAACCGCGCCGGTGATTGCGGTGCCGACCACGGCCGGCACGGGGAGCGAGGTCGGGCGCGGTGCCATCCTGATACTCGATGACGGGCGCAAGGTGGGGGTGATCTCGCCCCATGTGGTGCCCAAGGCCGCCATCTGTGACCCGTCATTGACCCTCGGGCTGCCGGCACAACTCACGG  >  NC_002947/3038016‑3038296

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: ‑