Predicted mutation
evidence seq id position mutation freq annotation gene description
RA NC_002947 3,038,495 A→T 8.9% Q256L (CAG→CTG)  gbd → 4‑hydroxybutyrate dehydrogenase

Read alignment evidence...
  seq id position ref new freq score (cons/poly) reads annotation genes product
*NC_0029473,038,4950AT 8.9% 127.5 / 3.4 45Q256L (CAG→CTG) gbd4‑hydroxybutyrate dehydrogenase
Reads supporting (aligned to +/- strand):  ref base A (20/21);  new base T (2/2);  total (22/23)
Fisher's exact test for biased strand distribution p-value = 1.00e+00
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 6.48e-01

CCTGCGTTCAACCCGCCTGCCGACGGCATTGCCCTGGACGGCCTGTGGAGGGCCTGGCGCTTCATCGAACGAGCCACCCGCGCGCCGGGCAACCTGGACGGGCGCATCAACATGATGAGCGCATCGCTGCAAGGTGCGCTGGCCTTCCAGAAAGGCCTGGGCTGCGTGCACAGCCTTAGCCACGCGCTGGGCGGGATCAACCCGCGCCTGCACCACGGCACCCTCAATGCGATCTTCCTGCCTGCCGTCATCCGCTTCAACCGCACGGCCGAAACGGTGGTGAATGAACAC  >  NC_002947/3038347‑3038637
                                                                                                                                                    |                                                                                                                                              
ccTGCGTTCAACCCGCCTGCCGACGGCATTGCCCTGGACGGCCTGTGGAGGGCCTGGCGCTTCATCGAACGAGCCACCCGCGCGCCGGGCAACCTGGACGGGCGCATCAACATGATGAGCGCATCGCTGCAAGGTGCGCTGGCCTTCCa                                                                                                                                                <  6:198307/149‑1 (MQ=255)
         aaCCCGCCTGCCGACGGCATTGCCCTGGACGGCCTGTGGAGGGCCTGGCGCTTCATCGAACGAGCCACCCGCGCGCCGGGCAACCTGGACGGGCGCATCAACATGATGAGCGCATCGCTGCAAGGTGCGCTGGCCTTCCAGAAAGGc                                                                                                                                         >  5:12510/1‑147 (MQ=255)
         aaCCCGCCTGCCGACGGCATTGCCCTGGACGGCCTGTGGAGGGCCTGGCGCTTCATCGAACGAGCCACCCGCGCGCCGGGCAACCTGGACGGGCGCATCAACATGATGAGCGCATCGCTGCAAGGTGCGCTGGCCTTCCAGAAAGGc                                                                                                                                         <  6:12510/147‑1 (MQ=255)
           cccGCCTGCCGACGGCATTGCCCTGGACGGCCTGTGGAGGGCCTGGCGCTTCATCGAACGAGCCACCCGCGCGCCGGGCAACCTGGACGGGCGCATCAACATGATGAGCGCATCGCTGCAAGGTGCGCTGGCCTTTCTGGAAGGccagc                                                                                                                                     <  3:214945/149‑4 (MQ=255)
                cTGCCGACGGCATTGCCCTGGACGGCCTGTGGAGGGCCTGGCGCTTCATCGAACGAGCCACCCGCGCGCCGGGCAACCTGGACGGGCGCATCAACATGATGAGCGCATCGCTGCAAGGTGCGCTGGCCTTCCAGAAAGGCCTGGGCTGc                                                                                                                                <  1:253680/149‑1 (MQ=255)
                   ccGACGGCATTGCCCTGGACGGCCTGTGGAGGGCCTGGCGCTTCATCGAACGAGCCCCCCGCGCGCCGGGCAACCTGGACGGGCGCATCAACATGATGAGCGCATCGCTGCAAGGTGCGCTGGCCTTCCAGAAAGGCCTGGGCTGCGTg                                                                                                                             >  5:224884/1‑149 (MQ=255)
                     gACGGCATTGCCCTGGACGGCCTGTGGAGGGCCTGGCGCTTCATCGAACGAGCCACCCGCGCGCCGGGCAACCTGGACGGGCGCATCAACATGATGAGCGCATCGCTGCAAGGTGCGCTGGCCTTTCTGGAAGGccagc                                                                                                                                     <  1:181436/139‑4 (MQ=255)
                     gACGGCATTGCCCTGGACGGCCTGTGGAGGGCCTGGCGCTTCATCGAACGAGCCACCCGCGCGCCGGGCAACCTGGACGGGCGCATCAACATGATGAGCGCATCGCTGCAAGGTGCGCTGGCCTTTCTGGAAGGccagc                                                                                                                                     >  2:181436/1‑136 (MQ=255)
                      aCGGCATTGCCCTGGACGGCCTGTGGAGGGCCTGGCGCTTCATCGAACGAGCCACCCGCGCGCCGGGCAACCTGGACGGGCGCATCAACATGATGAGCGCATCGCTGCAAGGTGCGCTGGCCTTCCAGAAAGGCCTGGGCTGCGTGca                                                                                                                           >  6:210509/1‑148 (MQ=255)
                          cATTGCCCTGGACGGCCTGTGGAGGGTCTGGCGCTTCATCGAACGAGCCACCCGCGCGCCGGGCAACCTGGACGGGCGCATCAACATGATGAGCGCATCGCTGCAAGGTGCGCTGGCCTTCCAGAAAGGCCTGGGCTGCGTGCACAGcc                                                                                                                      >  1:6578/1‑149 (MQ=255)
                           aTTGCCCTGGACGGCCTGTGGAGGGCCTGGCGCTTCATCGAACGAGCCACCCGCGCGCCGGGCAACCTGGACGGGCGCATCAACATGATGAGCGCATCGCTGCAAGGTGCGCTGGCCTTCCAGAAAGGCCTGGGCTGCGTGCACAGCCt                                                                                                                     >  3:264648/1‑149 (MQ=255)
                           aTTGCCCTGGACGGCCTGTGGAGGGCCTGGCGCTTCATCGAACGAGCCACCCGCGCGCCGGGCAACCTGGACGGGCGCATCAACATGATGAGCGCATCGCTGCAAGGTGCGCTGGCCTTCCAGAAAGGCCTGGGCTGCGTGCACAGCCt                                                                                                                     <  5:137615/149‑1 (MQ=255)
                                       ggCCTGTGGAGGGCCTGGCGCTTCATCGAACGAGCCACCCGCGCGCCGGGCAACCTGGACGGGCGCATCAACATGATGAGCGCATCGCTGCAAGGTGCGCTGGCCTTCCAGAAAGGCCTGGGCTGCGTg                                                                                                                             <  3:89863/129‑1 (MQ=255)
                                       ggCCTGTGGAGGGCCTGGCGCTTCATCGAACGAGCCACCCGCGCGCCGGGCAACCTGGACGGGCGCATCAACATGATGAGCGCATCGCTGCAAGGTGCGCTGGCCTTCCAGAAAGGCCTGGGCTGCGTg                                                                                                                             >  4:89863/1‑129 (MQ=255)
                                              ggAGGGCCTGGCGCGTCATCGAACGCGCCACCCGCGCGCCGGGCAACCTGGACGGGCGCATCAACATGATGAGCGCATCGCCGCAAGGTGCGCTGGCCTTCCAGAAAGGCCTGGGCTGCGTGCACAGCCTTAGCCACGCGCTGGGCggg                                                                                                  <  3:164094/149‑1 (MQ=255)
                                                      tGGCGCTTCATCGAACGAGCCACCCGCGCGCCGGGCAACCTGGACGGGCGCATCAACATGATGAGCGCATCGCTGCAAGGTGCGCTGGCCTTCCAGAAAGGCCTGGGCTGCGTGCACAGCCTTAGCCACGCGCTGGGCGGGATCAAcca                                                                                          >  8:230667/1‑148 (MQ=255)
                                                          gcTTCATCGAACGAGCCACCCGCGCGCCGGGCAACCTGGACGGGCGCATCAACATGATGAGCGCATCGCTGCAAGGTGCGCTGGCCTTCCAGAAAGGCCTGGGCTGCGTGCACAGCCTTAGCCACGCGCTGGGCGGGATCAACCCgcgc                                                                                      >  7:198786/1‑149 (MQ=255)
                                                              cATCGAACGAGCCACCCGCGCGCCGGGCAACCTGGACGGGCGCATCAACATGATGAGCGCATCGCTGCAAGGTGCGCTGGCCTTCCAGAAAGGCCTGGGCTGCGTGCACAGCCTTAGCCACGCGCTGGGCGGGATCAACCCGCGCCTg                                                                                   <  4:264648/148‑1 (MQ=255)
                                                               aTCGAACGAGCCACCCGCGCGCCGGGCAACCTGGACGGGCGCATCAACATGATGAGCGCATCGCTGCAAGGTGCGCTGGCCTTCCAGAAAGGCCTGGGCTGCGTGCACAGCCTTAGCCACGCGCTGGGCGGGATCAACCCGCGCCTGca                                                                                 >  2:217394/1‑149 (MQ=255)
                                                                   aaCGAGCCACCCGCGCGCCGGGCAACCTGGACGGGCGCATCAACATGATGAGCGCATCGCTGCAAGGTGCGCTGGCCTTCCAGAAAGGCCTGGGCTGCGTGCACAGCCTTAGCCACGCGCTGGGCGGGATCAACCCGCGCCTGcaccac                                                                             >  5:46530/1‑149 (MQ=255)
                                                                     cGAGCCACCCGCGCGCCGGGCAACCTGGACGGGCGCATCAACATGATGAGCGCATCGCTGCAAGGTGCGCTGGCCTTCCAGAAAGGCCTGGGCTGCGTGCACAGCCTTAGCCACGCGCTGGGCGGGATCAACCCGCGCCTGCACCACgg                                                                           <  6:46530/149‑1 (MQ=255)
                                                                           aCCCGCGCGCCGGGCAACCTGGACGGGCGCATCAACATGATGAGCGCATCGCTGCAAGGTGCGCTGGCCTTCCAGAAAGGCCTGGGCTGCGTGCACAGCCTTAGCCACGCGCTGGGCGGGATCAACCCGCGCCTGCACCACGGCACCCt                                                                     >  7:234408/1‑149 (MQ=255)
                                                                              cgcgcgCCGGGCAACCTGGACGGGCGCATCAACATGATGAGCGCATCGCTGCAAGGTGCGCTGGCCTTCCAGAAAGGCCTGGGCTGCGTGCACAGCCTTAGCCACGCGCTGGGCGGGATCAACCCGCGCCTGCACCACGGCACCCTCaa                                                                  >  5:89544/1‑149 (MQ=255)
                                                                                         cAACCTGGACGGGCGCATCAACATTATGAGCGCATCGCTGCAAGGTGCTCTGGCCTTCCAGAAAGGACTGGGCTGCGTGCACAGCCTTAGCCACTCGCTGGGCGGGCTCACCACGCGCCTGCACACCGGCACCCt                                                                     >  8:128262/1‑135 (MQ=255)
                                                                                         cAACCTGGACGGGCGCATCAACATGATGAGCGCATCGCTGCAAGGTGCGCTGGCCTTCCAGAACGGCCTGGGCTGCGTGCACAGCCTTAGCCACGCGCTGGGCGGGATCAACCCGCGCCTGCACCACGGCACCCt                                                                     <  7:128262/135‑1 (MQ=255)
                                                                                         cAACCTGGACGGGCGCATCAACATGATGAGCGCATCGCTGCAAGGTGCGCTGGCCTTCCAGAAAGGCCTGGGCTGCGTGCACAGCCTTAGCCACGCGCTGGGCGGGATCAACCCGCGCCTGCACCACGGCACCCt                                                                     <  7:124809/135‑1 (MQ=255)
                                                                                         cAACCTGGACGGGCGCATCAACATGATGAGCGCATCGCTGCAAGGTGCGCTGGCCTTCCAGAAAGGCCTGGGCTGCGTGCACAGCCTTAGCCACGCGCTGGGCGGGATCAACCCGCGCCTGCACAACGGCACCCt                                                                     >  8:124809/1‑135 (MQ=255)
                                                                                           aCCTGGACGGGCGCATCAACATGATGAGCGCATCGCTGCAAGGTGCGCTGGCCTTCCAGAAAGGCCTGGGCTGCGTGCACAGCCTTAGCCACGCGCTGGGCGGGATCAACCCGCGCCTGCACCACGGCACCCTCAATGCGATCTTcctg                                                     <  5:210509/149‑1 (MQ=255)
                                                                                                   gggCGCATCAACATGATGAGCGCATCGCTGCAAGGTGCGCTGGCCTTCCAGAAAGGCCTGGGCTGCGTGCACAGCCTTAGCCACGCGCTGGGCGGGATCAACCCGCGCCTGCACCACGGCACCCTCAATGCGATCTTCCTGCCTGCCGt                                             <  3:40319/149‑1 (MQ=255)
                                                                                                   gggCGCATCAACATGATGAGCGCATCGCTGCAAGGTGCGCTGGCCTTCCAGAAAGGCCTGGGCTGCGTGCACAGCCTTAGCCACGCGCTGGGCGGGATCAACCCGCGCCTGCACCACGGCACCCTCAATGCGATCTTCCTGCCTGCCGt                                             >  3:151796/1‑149 (MQ=255)
                                                                                                     gcgcATCAACATGATGAGCGCATCGCTGCAAGGTGCGCTGGCCTTCCAGAAAGGCCTGGGCTGCGTGCACAGCCTTAGCCACGCGCTGGGCGGGATCAACCCGCGCCTGCACCACg                                                                            >  7:245811/1‑116 (MQ=255)
                                                                                                     gcgcATCAACATGATGAGCGCATCGCTGCAAGGTGCGCTGGCCTTCCAGAAAGGCCTGGGCTGCGTGCACAGCCTTAGCCACGCGCTGGGCGGGATCAACCCGCGCCTGCACCACg                                                                            <  8:245811/116‑1 (MQ=255)
                                                                                                        cATCAACATGATGAGCGCATCGCTGCAAGGTGCGCTGGCCTTCCAGAAAGGCCTGGGCTGCGTGCACAGCCTTAGCCACGCGCTGGGCGGGATCAACCCGCGCCTGCACCACGGCACCCTCAATGCGATCTTCCTGCCTGCCGTCATcc                                        <  8:198786/149‑1 (MQ=255)
                                                                                                          tCAACATGATGAGCGCATCGCTGCAAGGTGCGCTGGCCTTCCAGAAAGGCCTGGGCTGCGTGCACAGCCTTAGCCACGCGCTGGGCGGGATCAACCCGCGCCTGCACCACGGCACCCTCAATGCGATCTTCCTGCCTGCCGTCATCCGc                                      <  5:189831/149‑1 (MQ=255)
                                                                                                          tCAACATGATGAGCGCATCGCTGCAAGGTGCGCTGGCCTTCCAGAAAGGCCTGGGCTGCGTGCACAGCCTTAGCCACGCGCTGGGCGGGATCAACCCGCGCCTGCACCACGGCACCCTCAATGCGATCTTCCTGCCTGCCGTCATCCGc                                      <  3:117116/149‑1 (MQ=255)
                                                                                                             aCATGATGAGCGCATCGCTGCAAGGTGCGCTGGCCTTCCAGAAAGGCCTGGGCTGCGTGCACAGCCTTAGCCACGCGCTGGGCGGGATCAACCCGCGCCTGCACCACGGCACCCTCAATGCGATCTTCCTGCCTGCCGTCATCCGCTTc                                   <  2:6578/149‑1 (MQ=255)
                                                                                                                                 cAAGGTGCGCTGGCCTTCCAGAAAGGCCTGGGCTGCGTGcaca                                                                                                                         <  4:21260/43‑1 (MQ=255)
                                                                                                                                 cAAGGTGCGCTGGCCTTCCAGAAAGGCCTGGGCTGCGTGcaca                                                                                                                         >  3:21260/1‑43 (MQ=255)
                                                                                                                                   aGGTGCGCTGGCCTTCCAGAAAGGCCTGGGCTGCGTGCACAGCCTTAGCCACGCGCTGGGCGGGATCAACCCGCGCCTGCACCACGGCACCCTCAATGCGATCTTCCTGCCTGCCGTCATCCGCTTCAACCGCACGGCCGAAACggtgg             <  6:224884/149‑1 (MQ=255)
                                                                                                                                         ccaggCCTTTCTGGAAGGCCTGGGCTGCGTGCACAGCCTTAGCCACGCGCTGGGCGGGATCAACCCGCGCCTGCACCACGGCACCCTCAATGCGATCTTCCTGCCTGCCGTCATCCGCTTCAACCGCACGGCCGAAACGGTGGtgaatg       >  8:177908/4‑149 (MQ=255)
                                                                                                                                             tccTTCCAGAAAGGCCTGGGCTGCGTGCACAGCCTTAGCCACGCGCTGGGCGGGATCAACCCGCGCCTGCACCACGGCACCCTCAATGCGATCTTCCTGCCTGCCGTCATCCGCTTCAACCGCACGGCCGAAACGGTGGTGAATGAac    <  1:231715/147‑1 (MQ=255)
                                                                                                                                              ccTTCCAGAAAGGCCTGGGCTGCGTGCACAGCCTTAGCCACGCGCTGGGCGGGATCAACCCGCGCCTGCACCACGGCACCCTCAATGCGATCTTCCTGCCTGCCGTCATCCGCTTCAACCGCACGGCCGAAACGGTGGTGAATGAacac  <  6:89544/149‑1 (MQ=255)
                                                                                                                                              ccTTCCAGAAAGGCCTGGGCTGCGTGCACAGCCTTAGCCACGCGCTGGGCGGGATCAACCCGCGCCTGCACCACGGCACCCTCAATGCGATCTTCCTGCCTGCCGTCATCCGCTTCAACCGCACGGCCGAAACGGTGGTGAATGAaca   >  4:42576/1‑148 (MQ=255)
                                                                                                                                                ttCCAGAAAGGCCTGGGCTGCGTGCACAGCCTTAGCCACGCGCTGGGCGGGATCAACCCGCGCCTGCACCACGGCACCCTCAATGCGATCTTCCTGCCTGCCGTCATCCGCTTCAACCGCACGGCCGAAACGGTGGTGAATGAacac  >  3:121694/1‑147 (MQ=255)
                                                                                                                                                ttCCAGAAAGGCCTGGGCTGCGTGCACAGCCTTAGCCACGCGCTGGGCGGGATCAA‑CCGCGCCTGCACCACGGCACCCTCAATGCGAt                                                            <  6:24658/88‑1 (MQ=255)
                                                                                                                                                ttCCAGAAAGGCCTGGGCTGCGTGCACAGCCTTAGCCACGCGCTGGGCGGGATCAA‑CCGCGCCTGCACCACGGCACCCTCAATGCGAt                                                            >  5:24658/1‑88 (MQ=255)
                                                                                                                                                    |                                                                                                                                              
CCTGCGTTCAACCCGCCTGCCGACGGCATTGCCCTGGACGGCCTGTGGAGGGCCTGGCGCTTCATCGAACGAGCCACCCGCGCGCCGGGCAACCTGGACGGGCGCATCAACATGATGAGCGCATCGCTGCAAGGTGCGCTGGCCTTCCAGAAAGGCCTGGGCTGCGTGCACAGCCTTAGCCACGCGCTGGGCGGGATCAACCCGCGCCTGCACCACGGCACCCTCAATGCGATCTTCCTGCCTGCCGTCATCCGCTTCAACCGCACGGCCGAAACGGTGGTGAATGAACAC  >  NC_002947/3038347‑3038637

Alignment Legend
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 14 ≤ ATCG/ATCG < 27 ≤ ATCG/ATCG < 32 ≤ ATCG/ATCG < 36 ≤ ATCG/ATCG
Unaligned base: atcg    Masked matching base: atcg    Alignment gap: ‑    Deleted base: ‑