Predicted mutation
evidence seq id position mutation freq annotation gene description
RA NC_002947 431,362 C→T 8.0% V318I (GTT→ATT)  PP_0354 ← CBS domain‑containing protein

Read alignment evidence...
  seq id position ref new freq score (cons/poly) reads annotation genes product
*NC_002947431,3620CT 8.0% 143.5 / 2.6 50V318I (GTT→ATT) PP_0354CBS domain‑containing protein
Reads supporting (aligned to +/- strand):  ref base C (21/25);  new base T (2/2);  total (23/27)
Fisher's exact test for biased strand distribution p-value = 1.00e+00
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 8.43e-01

GTCGCCACGTTCGGCCAGGGCCAGTTCGATGACCCGGCACACGGTATGGTCGTTGAGCAAGGTAATGATCTGGGTGATCTGCGTCGACGATGCGCCATGGGCCAGCATGCGTTCTACAAGCTGGCTGATTTCGCCGCGCAGCGAAACCAGCGTATCCAGGCGTGGCGCATGGCGTATGGTGCGCGCCAGGTGAACCAGATCGACCCGTTGCAGGGAGAACAGGTCGCGCTCGGAAACCACGCCGCACAGGCGTCCGTTTTCCACCAGGCAGACATGGGCAATATGC  >  NC_002947/431216‑431501
                                                                                                                                                  |                                                                                                                                           
gTCGCCACGTTCGGCCAGGGCCAGTTCGATGACCCGGCACACGGTATGGTCGTTGAGCAAGGTAATGATCTGGGTGATCTGCGTCGACGATGCGCCATGGGCCAGCATGCGTTCTACAAGCTGGCTGATTTCGCCGCGCAGCGAAACCa                                                                                                                                           <  8:63803/149‑1 (MQ=255)
gTCGCCACGTTCGGCCAGGGCCAGTTCGATGACCCGGCACACGGTATGGTCGTTGAGCAAGGTAATGATCTGGGTGATCTGCGTCGACGATGCGCCATGGGCCAGCATGCGTTCTACAAGCTGGCTGATTTCGCCGCGCAGCGAAACCa                                                                                                                                           <  1:6466/149‑1 (MQ=255)
 tCGCCACGTTCGGCCAGGGCCAGTTCGATGACCCGGCACACGGTATGGTCGTTGAGCAAGGTAATGATCTGGGTGATCTGCGTCGACGATGCGCCATGGGCCAGCATGCGTTCTACAAGCTGGCTGATTTCGCCGCGCAGCGAAACCAg                                                                                                                                          <  2:63250/149‑1 (MQ=255)
   gCCACGTTCGGCCAGGGCCAGTTCGATGACCCGGCACACGGTATGGTCGTTGAGCAAGGTAATGATCTGGGTGATCTGCGTCGACGATGCGCCATGGGCCAGCATGCGTTCTACAAGCTGGCTGATTTCGCCGCGCAGCGAAACCAGc                                                                                                                                         <  6:203607/148‑1 (MQ=255)
    ccACGTTCGGCCAGGGCCAGTTCGATGACCCGGCACACGGTATGGTCGTTGAGCAAGGTAATGATCTGGGTGATCTGCGTCGACGATGCGCCATGGGCCAGCATGCGTTCTACAAGCTGGCTGGTTTCGCTGCGCGGCGAAATCAGcca                                                                                                                                       <  8:37043/149‑3 (MQ=255)
            ggccagggccagTTCGATGACCCGGCACACGGTATGGTCGTTGAGCAAGGTAATGATCTGGGTGATCTGCGTCGACGATGCGCCATGGGCCAGCATGCGTTCTACAAGCTGGCTGATTTCGCCGCGCAGCGAAACCAGCGTATCCAgg                                                                                                                                <  4:320668/148‑1 (MQ=255)
             gccagggccagTTCGATGACCCGGCACACGGTATGGTCGTTGAGCAAGGTAATGATCTGGGTGATCTGCGTCGACGATGCGCCATGGGCCAGCATGCGTTCTACAAGCTGGCTGATTTCGCCGCGCAGCGAAAcc                                                                                                                                            <  8:102536/135‑1 (MQ=255)
             gccagggccagTTCGATGACCCGGCACACGGTATGGTCGTTGAGCAAGGTAATGATCTGGGTGATCTGCGTCGACGATGCGCCATGGGCCAGCATGCGTTCTACAAGCTGGCTGATTTCGCCGCGCAGCGAAAcc                                                                                                                                            >  7:102536/1‑135 (MQ=255)
             gccagggccagTTCGATGACCCGGCACACGGTATGGTCGTTGAGCAAGGTAATGATCTGGGTGATCTGCGTCGACGATGCGCCATGGGCCAGCATGCGTTCTACAAGCTGGCTGATTTCGCCGCGCAGCGAAACCAGCGTATCCAGGCg                                                                                                                              >  8:280770/1‑149 (MQ=255)
             gccagggccagTTCGATGACCCGGCACACGGTATGGTCGTTGAGCAAGGTAATGATCTGGGTGATCTGCGTCGACGATGCGCCATGGGCCAGCATGCGTTCTACAAGCTGGCTGATTTCGCCGCGCAGCGAAACCAGCGTATCCAGGCg                                                                                                                              >  6:334526/1‑149 (MQ=255)
               cagggccagTTCGATGACCCGGCACACGGTATGGTCGTTGAGCAAGGTAATGATCTGGGTGATCTGCGTCGACGATGCGCCATGGGCCAGCATGCGTTCTACAAGCTGGCTGATTTCGCCGCGCAGCGAAACCAGCGTATCCAGGCGTg                                                                                                                            <  8:253909/149‑1 (MQ=255)
                        ttCGATGACCCGGCACACGGTATGGTCGTTGAGCAAGGTAATGATCTGGGTGATCTGCGTCGACGATGCGCCATGGGCCAGCATGCGTTCTACAAGCTGGCTGGTTTCGCTGCGCGGCGAAATCAGcca                                                                                                                                       <  4:183170/129‑3 (MQ=255)
                        ttCGATGACCCGGCACACGGTATGGTCGTTGAGCAAGGTAATGATCTGGGTGATCTGCGTCGACGATGCGCCATGGGCCAGCATGCGTTCTACAAGCTGGCTGGTTTCGCTGCGCGGCGAAATCAGcca                                                                                                                                       >  3:183170/1‑127 (MQ=255)
                          cGATGACCCGGCACACGGTATGGTCGTTGAGCAAGGTAATGATCTGGGTGATCTGCGTCGACGATGCGCCATGGGCCAGCATGCGTTCTACAAGCTGGCTGATTTCGCCGCGCAGCGAAACCAGCGTATCCAGGCGTGGCGCATGGCg                                                                                                                  >  6:215760/1‑148 (MQ=255)
                           gATGACCCGGCACACGGTATGGTCGTTGAGCAAGGTAATGATCTGGGTGATCTGCGTCGACGATGCGCCATGGGCCAGCATGCGTTCTACAAGCTGGCTGATTTCGCCGCGCAGCGAAACCAGCGTATCCAGGCGTGGCGCATGGCGTa                                                                                                                <  2:37417/149‑1 (MQ=255)
                             tGACCCGGCACACGGTATGGTCGTTGAGCAAGGTAATGATCTGGGTGATCTGCCTCGACGATGCGCCATGGGCCAGCATGCGTTCTACAAGCTGGCTGATTTCGCCGCGCAGCGAAACCAGCGTATCCAGGCGTGGCGCATGGCGTATg                                                                                                              <  5:334526/149‑1 (MQ=255)
                                  cGGCACACGGTATGGTCGTTGAGCAAGGTAATGATCTGGGTGATCTGCGTCGACGATGCGCCATGGGCCAGCATGCGTTCTACAAGCTGGCTGATTTCGCCGCGCAGCGAAACCAGCGTATCCAGGCGTGGCGCATGGCGTATGGTgcg                                                                                                         <  5:215760/149‑1 (MQ=255)
                                        acGGTATGGTCGTTGAGCAAGGTAATGATCTGGGTGATCTGCGTCGACGATGCGCCATGGGCCAGCATGCGTTCTACAAGCTGGCTGATTTCGCCGCGCAGCGAAACCAGCGTATCCAGGCGTGGCGCATGGCGTATGGTGCGCGCCAg                                                                                                   >  5:107580/1‑149 (MQ=255)
                                           gTATGGTCGTTGAGCAAGGTAATGATCTGGGTGATCTGCGTCGACGATGCGCCATGGGCCAGCATGCGTTCTACAAGCTGGCTGATTTCGCCGCGCAGCGAAACCAGCGTATCCAGGCGTGGCGCATGGCGTATGGTGCGCGCCAGGt                                                                                                 >  6:60680/1‑148 (MQ=255)
                                                gTCGTTGAGCAAGGTAATGATCTGGGTGATCTGCGTCGACGATGCGCCATGGGCCAGCATGCGTTCTACAAGCTGGCTGATTTCGCCGCGCAGCGAAACCAGCGTATCCAGGCGTGGCGCATGGCGTATGGTGCGCGCCAGGTGAAc                                                                                             >  5:159201/1‑147 (MQ=255)
                                                gTCGTTGAGCAAGGTAATGATCTGGGTGATCTGCGTCGACGATGCGCCATGGGCCAGCATGCGTTCTACAAGCTGGCTGATTTCGCCGCGCAGCGAAACCAGCGTATCCAGGCGTGGCGCATGGCGTATGGTGCGCGCCAGGTGAAc                                                                                             >  3:24669/1‑147 (MQ=255)
                                                    ttGAGCAAGGTAATGATCTGGGTGATCTGCGTCGACGATGCGCCATGGGCCAGCATGCGTTCTACAAGCTGGCTGATTTCGCCGCGCAGCGAAACCAGCGTATCCAGGCGTGGCGCATGGCGTATGGTGCGCGCCAGGTGAACCAGATc                                                                                       <  7:280770/149‑1 (MQ=255)
                                                       aGCAAGGTAATGATCTGGGTGATCTGCGTCGACGATGCGCCATGGGCCAGCATGCGTTCTACAAGCTGGCTGATTTCGCCGCGCAGCGAAACCAGCGTATCCAGGCGTGGCGCATGGCGTATGGTGCGCGCCAGGTGAACCAGATCGAc                                                                                    <  3:106447/149‑1 (MQ=255)
                                                         cAAGGTAATGATCTGGGTGATCTGCGTCGACGATGCGCCATGGGCCAGCATGCGTTCTACAAGCTGGCTGATTTCGCCGCGCAGCGAAACCAGCGTATCCAGGCGTGGCGCATGGCGTATGGTGCGCGCCAGGTGAACCAGATCGAccc                                                                                  <  8:178477/149‑1 (MQ=255)
                                                            ggTAATGATCTGGGTGATCTGCGTCGACGATGCGCCATGGGCCAGCATGCGTTCTACAAGCTGGCTGATTTCGCCGCGCAGCGAAACCAGCGTATCCAGGCGTGGCGCATGGCGTATGGTGCGCGCCAGGTGAACCAGATCGACCCGtt                                                                               >  3:116865/1‑149 (MQ=255)
                                                              tAATGATCTGGGTGATCTGCGTCGACGATGCGCCATGGGCCAGCATGCGTTCTACAAGCTGGCTGATTTCGCCGCGCAGCGAAACCAGCGTATCCAGGCGTGGCGCATGGCGTATGGTGCGCGCCAGGTGAACCAGATCGACCCGTTGc                                                                             <  4:24669/149‑1 (MQ=255)
                                                              tAATGATCTGGGTGATCTGCGTCGACGATGCGCCATGGGCCAGCATGCGTTCTACAAGCTGGCTGATTTCGCCGCGCAGCGAAACCAGCGTATCCAGGCGTGGCGCATGGCGTATGGTGCGCGCCAGGTGAACCAGATCGACCCGTTGc                                                                             <  6:159201/149‑1 (MQ=255)
                                                                        ggTGATCTGCGTCGACGATGCGCCATGGGCCAGCATGCGTTCTACAAGCTGGCTGATTTCGCCGCGCAGCGAAACCAGCGTATCCAGGCGTGGCGCATGGCGTATGGTGCGCGCCAGGTGAACCAGATCGACCCGTTGCAGGGAGAAc                                                                    <  2:284212/148‑1 (MQ=255)
                                                                                 cGTCGACGATGCGCCATGGGCCAGCATGCGTTCTACAAGCTGGCTGATTTCGCCGCGCAGCGAAACCAGCGTATCCAGGCGTGGCGCATGGCGTATGGTGCGCGCCAGGTGAACCAGATCGACCCGTTGCAGGGAGAACAGGTcgc                                                             <  4:116865/146‑1 (MQ=255)
                                                                                     gacgaTGCGCCATGGGCCAGCATGCGTTCTACAAGCTGGCTGATTTCGCCGCGCAGCGAAACCAGCGTATCCAGGCGTGGCGCATGGCGTATGGTGCGCGCCAGGTGAACCAGATCGACCCGTTGCAGGGAGAACAGGTCGCGCTCgg                                                       >  5:163923/1‑148 (MQ=255)
                                                                                      acgaTGCGCCATGGGCCAGCATGCGTTCTACAAGCTGGCTGATTTCGCCGCGCAGCGAAACCAGCGTATCCAGGCGTGGCGCATGGCGTATGGTGCGCGCCAGGTGAACCAGATCGACCCGTTGCAGGGAGAACAGGTCGCGCTCGGa                                                      >  7:26017/1‑148 (MQ=255)
                                                                                          tGCGCCATGGGCCAGCATGCGTTCTACAAGCTGGCTGATTTCGCCGCGCAGCGAAACCAGCGTATCCAGGCGTGGCGCATGGCGTATGGTGCGCGCCAGGTGAACCAGATCGACCCGTTGCAGGGAGAACAGGTCGCGCTCGGAAACCa                                                 >  2:329866/1‑149 (MQ=255)
                                                                                           gcgcCATGGGCCAGCATGCGTTCTACAAGCTGGCTGATTTCGCCGCGCAGCGAAACCAGCGTATCCAGGCGTGGCGCATGGCGTATGGTGCGCGCCAGGTGAACCAGATCGACCCGTTGCAGGGAGAACAGGTCGCGCTCGGAAACCAc                                                >  2:244493/1‑149 (MQ=255)
                                                                                               cATGGGCCAGCATGCGTTCTACAAGCTGGCTGATTTCGCCGCGCAGCGAAACCAGCGTATCCAGGCGTGGCGCATGGCGTATGGTGCGCGCCAGGTGAACCAGATCGACCCGTTGCAGGGAGAACAGGTCGCGCTCGGAAACCAcgccg                                            >  1:43784/1‑149 (MQ=255)
                                                                                                     ccAGCATGCGTTCTACAAGCTGGCTGATTTCGCCGCGCAGCGAAACCAGCGTATCCAGGCGTGGCGCATGGCGTATGGTGCGCGCCAGGTGAACCAGATCGACCCGTTGCAGGGAGAACAGGTCGCGCTCGGAAACCACGCCGcacacg                                      >  3:243401/1‑147 (MQ=255)
                                                                                                        gCATGCGTTCTACAAGCTGGCTGATTTCGCCGCGCAGCGAAACCAGCGTATCCAGGCGTGGCGCATGGCGTATGGTGCGCGCCAGGTGAACCAGATCGACCCGTTGCAGGGAGAACAGGTCGCGCTCGGAAACCACGCCGCACAGGCGt                                   <  3:311665/149‑1 (MQ=255)
                                                                                                          aTGCGTTCTACAAGCTGGCTGATTTCGCCGCGCAGCGAAACCAGCGTATCCAGGCGTGGCGCATGGCGTATGGTGCGCGCCAGGTGAACCAGATCGACCCGTTGCAGGGAGAACAGGTCGCGCTCGGAAAc                                                   <  2:213834/131‑1 (MQ=255)
                                                                                                              gTTCTACAAGCTGGCTGATTTCGCCGCGCAGCGAAACCAGCGTATCCAGGCGTGGCGCATGGCGTATGGTGCGCGCCAGGTGAACCAGATCGACCCGTTGCAGGGAGAACAGGTCGCGCTCGGAAACCACGCCGCACAGGCGTCCGttt                             <  1:244493/149‑1 (MQ=255)
                                                                                                                    cAAGCTGGCTGATTTCGCCGCGCAGCGAAACCAGCGTATCCAGGCGTGGCGCATGGCGTATGGTGCGCGCCAGGTGAACCAGATCGACCCGTTGCAGGGAGAACAGGTCGCGCTCGGAAACCACGCCGCACAGGCGTCCGTTTTcc                          <  6:163923/146‑1 (MQ=255)
                                                                                                                       gctggctgATTTCGCCGCGCAGCGAAACCAGCGTATCCAGGCGTGGCGCATGGCGTATGGTGCGCGCCAGGTGAACCAGATCGACCCGTTGCAGGGAGAACAGGTCGCGCTCGGAAACCACGCCGCACAGGCGTCCGTTTTCCACCAgg                    >  8:60208/1‑149 (MQ=255)
                                                                                                                           gctgATTTCGCCGCGCAGCGAAACCAGCGTATCCAGGCGTGGCGCATGGCGTATGGTGCGCGCCAGGTGAACCAGATCGACCCGTTGCAGGGAGAACAGGTCGCGCTCGGAAACCACGCCGCACAGGCGTCCGTTTTccacca                      >  7:285548/1‑143 (MQ=255)
                                                                                                                           gctgATTTCGCCGCGCAGCGAAACCAGCGTATCCAGGCGTGGCGCATGGCGTATGGTGCGCGCCAGGTGAACCAGATCGACCCGTTGCAGGGAGAACAGGTCGCGCTCGGAAACCACGCCGCACAGGCGTCCGTTTTccacca                      <  8:285548/143‑1 (MQ=255)
                                                                                                                           gctgATTTCGCCGCGCAGCGAAACCAGCGTATCCAGGCGTGGCGCATGGCGTATGGTGCGCGCCAGGTGAACCAGATCGACCCGTTGCAGGGAGAACAGGTCGCGCTCGGAAACCACGCCGCACAGGCGTCCGTTTTCCACCAGGCAGa                >  8:281555/1‑149 (MQ=255)
                                                                                                                             tggtttCGCTGCGCGGCGAAATCAGCGTATCCAGGCGTGGCGCATGGCGTATGGTGCGCGCCAGGTGAACCAGATCGACCCGTTGCAGGGAGAACAGGTCGCGCTCGGAAACCACGCCGCACAGGCGTCCGTTTTCCACCAGGCAGACa              >  8:193833/4‑149 (MQ=255)
                                                                                                                             tgATTTCGCCGCGCAGCGAAACCAGCGTATCCAGGCGTGGCGCATGGCGTATGGTGCGCGCCAGGTGAACCAGATCGACCCGTTGCAGGGAGAACAGGTCGCGCTCGGAAACCACGCCGCACAGGCGTCCGTTTTCCACCAGGCAGACa              >  1:295124/1‑149 (MQ=255)
                                                                                                                               aTTTCGCCGCGCAGCGAAACCAGCGTATCCAGGCGTGGCGCATGGCGTATGGTGCGCGCCAGGTGAACCAGATCGACCCGTTGCAGGGAGAACAGGTCGCGCTc                                                         <  2:313952/104‑1 (MQ=255)
                                                                                                                               aTTTCGCCGCGCAGCGAAACCAGCGTATCCAGGCGTGGCGCATGGCGTATGGTGCGCGCCAGGTGAACCAGATCGACCCGTTGCAGGGAGAACAGGTCGCGCTc                                                         >  1:313952/1‑104 (MQ=255)
                                                                                                                                tttCGCCGCGCAGCGAAACCAGCGTATCCAGGCGTGGCGCATGGCGTATGGTGCGCGCCAGGTGAACCAGATCGACCCGTTGCAGGGAGAAc                                                                    <  2:307575/92‑1 (MQ=255)
                                                                                                                                tttCGCCGCGCAGCGAAACCAGCGTATCCAGGCGTGGCGCATGGCGTATGGTGCGCGCCAGGTGAACCAGATCGACCCGTTGCAGGGAGAAc                                                                    >  1:307575/1‑92 (MQ=255)
                                                                                                                                tttCGCCGCGCAGCGAAACCAGCGTATCCAGGCGTGGCGCATGGCGTATGGTGCGCGCCAGGTGAACCAGATCGACCCGTTGCAGGGAGAACAGGTCGCGCTCGGAAACCACGCCGCACAGGCGTCCGTTTTCCACCAGGCAGACATgg           <  5:60680/149‑1 (MQ=255)
                                                                                                                                   cgccgcGCAGCGAAACCAGCGTATCCAGGCGTGGCGCATGGCGTATGGTGCGCGCCAGGTGAACCAGATCGACCCGTTGCAGGGAGAACAGGTCGCGCTCGGAAACCACGCCGCACAGGCGTCCGTTTTCCACCAGGCAGACATGGGc         >  2:171174/1‑148 (MQ=255)
                                                                                                                                         gcAGCGAAACCAGCGTATCCAGGCGTGGCGCATGGCGTATGGTGCGCGCCAGGTGAACCAGATCGACCCGTTGCAGGGAGAACAGGTCGCGCTCGGAAACCACGCCGCACAGGCGTCCGTTTTCCACCAGGCAGACATGGGCAATATGc  <  7:281555/149‑1 (MQ=255)
                                                                                                                                                  |                                                                                                                                           
GTCGCCACGTTCGGCCAGGGCCAGTTCGATGACCCGGCACACGGTATGGTCGTTGAGCAAGGTAATGATCTGGGTGATCTGCGTCGACGATGCGCCATGGGCCAGCATGCGTTCTACAAGCTGGCTGATTTCGCCGCGCAGCGAAACCAGCGTATCCAGGCGTGGCGCATGGCGTATGGTGCGCGCCAGGTGAACCAGATCGACCCGTTGCAGGGAGAACAGGTCGCGCTCGGAAACCACGCCGCACAGGCGTCCGTTTTCCACCAGGCAGACATGGGCAATATGC  >  NC_002947/431216‑431501

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: ‑