Predicted mutation
evidence seq id position mutation annotation gene description
RA NC_000913_3_hsa_tpiA 4,184,277 G→C Q1017H (CAG→CAC)  rpoB → RNA polymerase, beta subunit

Read alignment evidence...
  seq id position ref new freq score (cons/poly) reads annotation genes product
*NC_000913_3_hsa_tpiA4,184,2770GC97.9% 152.7 / NA 48Q1017H (CAG→CAC) rpoBRNA polymerase, beta subunit
Reads supporting (aligned to +/- strand):  ref base G (1/0);  major base C (26/20);  minor base T (0/1);  total (27/21)
Fisher's exact test for biased strand distribution p-value = 4.47e-01
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 1.00e+00

GGGTCTGTTCAGCCGTATCCGTGCTGTGCTGGTAGCCGGTGGCGTTGAAGCTGAGAAGCTCGACAAACTGCCGCGCGATCGC‑TGGCTGGAGCTGGGCCTGACAGACGAAGAGAAACAAAATCAGCTGGAACAGCTGGCTGAGCAGTATGACGAACTGAAACACGAGTTCGAGAAGAAACTCGAAGCGAAACGCCGCAAAATCACCCAGGGCGACGATCTGGCACCGGGCGTGCTGAAGATTGTTAAGGTATATCTGGCGGTTAAACGCCGTATCCAGCCTGGTGACA  >  NC_000913_3_hsa_tpiA/4184133‑4184419
                                                                                                                                                 |                                                                                                                                              
gggTCTGTTCAGCCGTATCCGTGCTGTGCTGGTAGCCGGTGGCGTTGAAGCTGAGAAGCTCGACAAACTGCCGCGCGATCGC‑TGGCTGGAGCTGGGCCTGACAGACGAAGAGAAACAAAATCAGCTGGAACAGCTGGCTGAGCACTATg                                                                                                                                            <  1:417578/149‑1 (MQ=255)
  gTCTGTTCAGCCGTATCCGTGCTGTGCTGGTAGCCGGTGGCGTTGAAGCTGAGAAGCTCGACAAACTGCCGCGCGATCGC‑TGGCTGGAGCTGGGCCTGACAGACGAAGAGAAACAAAATCAGCTGGAACAGCTGGCTGAGCACTATGAc                                                                                                                                          >  1:414868/1‑149 (MQ=255)
  gTCTGTTCAGCCGTATCCGTGCTGTGCTGGTAGCCGGTGGCGTTGAAGCTGAGAAGCTCGACAAACTGCCGCGCGATCGC‑TGGCTGGAGCTGGGCCTGACAGACGAAGAGAAACAAAATCAGCTGAAACAGCTGGCTGAGCACTATAAc                                                                                                                                          >  2:447203/1‑149 (MQ=255)
     tGTTCAGCCGTATCCGTGCTGTGCTGGTAGCCGGTGGCGTTGAAGCTGAGAAGCTCGACAAACTGCCGCGCGATCGC‑TGGCTGGAGCTGGGCCTGACAGACGAAGAGAAACAAAATCAGCTGGCACAGCTGGCTGAGCACTATGACGaa                                                                                                                                       >  2:130592/1‑149 (MQ=255)
     tGTTCAGCCGTATCCGTGCTGTGCGGGTAGCCGGTGGCGTTGAAGCTGAGAAGCTCGACAAACTGCCGCGCGATCGC‑TGGCTGGAGCCGGGCCTGACAGACGAAGAGAAACAAAATCAGCTGGAACAGCTGGCTGAGCACTATGACGaa                                                                                                                                       <  1:813379/149‑1 (MQ=255)
       ttCAGCCGTATCCGTGCTGTGCTGGTAGCCGGTGGCGTTGAAGCTGAGAAGCTCGACAAACTGCCGCGCGATCGC‑TGGCTGGAGCTGGGCCTGACCGGCGAAGCGAAACAAAATCAGCTGGAACAGCTGGCTGAGCACTATGACGAACt                                                                                                                                     >  1:139803/1‑149 (MQ=255)
         cAGCCGTATCCGTGCTGTGCTGGTAGCCGGTGGCGTTGAAGCTGCGAAACTCGACAAACTGCCGCGCGATCGC‑TGGCTGGAGCTGGGCCTGACAGACGAAGAGAAACAAAATCAGCTGGAACAGCTGGCTGAGCACTATGACGAACTGa                                                                                                                                   >  1:981207/1‑149 (MQ=255)
         cAGCCGTATCCGTGCTGTGCTGGTAGCCGGTGGCGTTGAAGCTGAGAAGCTCGACAAACTGGCGCGCGATCGC‑TGGCTGGAGCTGGGCCTGACAGACGAAGAGAAACAAAATCAGCTGGGACAGCTGGCTGAGCACTATGACGAACTGa                                                                                                                                   >  2:906413/1‑149 (MQ=255)
           gCCGTATCCGTGCTGTGCTGGTAGCCGGTGGCGTTGAAGCTGAGAAGCTCGACAAACTGCCGCGCGATCGC‑TGGCTGGAGCTGGGCATGACAGACGAAGAGAAACAAAATCCGCTGGAACAGCTGGCTGAGCACTATGACGAACTGaaa                                                                                                                                 <  2:1026206/149‑1 (MQ=255)
                   cGTGCTGTGCTGGTAGCCGGTGGCGTTGAAGCTGAGAAGCTCGACAAACTGCCGCGCGATCGC‑TGGCTGGAGCTGGGCCTGACAGACGAAGAGAAACAAAATCAGCTGGAACAGCTGGCTGAGCACTATGACGAACTGAAACACGAGtt                                                                                                                         >  1:119819/1‑149 (MQ=255)
                      gctgtgctgGTAGCCGGTGGCGTTGAAGCTGAGAAGCTCGACAAACTGCCGCGCGATCGC‑TGGCTGGAGCTGGGCCTGACAGACGAAGAGAAACAAAATCAGCTGGAACAGCTGGCTGAGCACTATGACGAACTGAAACACGAGTTCga                                                                                                                      <  1:544364/149‑1 (MQ=255)
                       ctgtgctgGTAGCCGGTGGCGTTGAAGCTGAGAAGCTCGACAAACTGCCGCGCGATCGC‑TGGCTGGAGCTGGGCCTGACAGACGAAGAGAAACAAAATCAGCTGGAACAGCTGGCTGAGCACTATGACGAACTGAAACACGAGTTCgag                                                                                                                     <  2:414868/149‑1 (MQ=255)
                            ctgGTAGCCGGTGGCGTCGAAGCTGAGAAGCTCGACACACGGCCGCGCGATCGC‑TGGCTGGCGGACGGCCTGCCAGGCGCAGAGAAACAAAATCAGCTGGAACAGCCGGCGGCACAGTAAGACGAACTGACACACGAGTACCagcagac                                                                                                                >  2:283872/1‑148 (MQ=255)
                                           gTTGAAGCTGAGAAGCACGACAAACTGCCGCGCGATCGC‑TGGCTGACGCTGGGCCTGACAGAAGAAGAGAAACAAAATCAGCTGGAACAGCTGGCTGAGCACTATGACGAACTGAAACACGAGTGCGAGAAGAAACTCGAAGCGAAAcg                                                                                                 >  1:332697/1‑149 (MQ=255)
                                                        aGCTCGACAAACTGCCGCGCGATCGC‑TGGCTGGAGCTGGGCCTGACAGACGAAGAGAAACAAAATCAGCTGGAACAGCTGGCTGAGCACTATGACGAACTGAAACACGAGTTCGAGAAGAAACTCGAAGCGAAACGCCGCAAAATCAcc                                                                                    <  1:279273/149‑1 (MQ=255)
                                                        aGCCCGACAAACTGCCGCGCGATCGC‑TGGCTGGAGCTGGGCCTGACAGACGAAGAGAAACAAAATCAGCTGGAACAGCTGGCTGAGCACTATGACGAACTGAAACACGAGTTCGAGAAGAAACTCGAAGCGAAACGCCGCAAAATCAcc                                                                                    <  2:245377/149‑1 (MQ=255)
                                                          cTCGACAAACTGCCGCGCGATCGC‑TTGCTGCAGCTGGCCCTGACAGCCGAAGAGAAACAAAATCAGCTGGAACAGCTGGCTGAGCACTATGACGAACTGAAACACGAGTTCGAGAAGAAACTCGAAGCGAAACGCCGCAAAATCACCCa                                                                                  <  1:138944/149‑1 (MQ=255)
                                                          cTCGACAAACTGCCGCGCGATCGC‑TGGCTGGAGCTGGGCCTGACAGACGAAGAGAAACAAAATCAGCTGGAACAGCTGGCTGAGCACTATGACGAACTGAAACACGAGTTCGAGAAGAAACTCGAAGCGAAACGCCGCAAAATCACCCa                                                                                  >  1:516143/1‑149 (MQ=255)
                                                             gACAAACTGCCGCGCGATCGC‑TGGCTGGAGCTGGGCCTGACAGACGAAGAGAAACAAAATCAGCTGGAACAGCTGGCTGAGCACTATGACGAACTGAAACACGAGTTCGAGAAGAAACTCGAAGCGAAACGCCGCAAAATCACCCAggg                                                                               >  1:430169/1‑149 (MQ=255)
                                                              aCAAACTGCCGCGCGATCGC‑TGGCTGGAGCTGGGCCTGACAGACGAAGAGAAACAAAATCAGCTGGAACAGCTGGCTGAGCACTATGACGAACTGAAACACGAGTTCGAGAAGAAACTCGAAGCGAAACGCCGCAAAATCACCCAGGGc                                                                              >  1:919777/1‑149 (MQ=255)
                                                                    tGCCGCGCGATCGC‑TGGCTGGAGCTGGGCCTGACAGACGAAGAGAAACAAAATCAGCTGGAACAGCTGGCTGAGCACTATGACGAACTGAAACACGAGTTCGAGAAGAAACTCGAAGCGAAACGCCGCAAAATCACCCAGGGcgacgaa                                                                        >  1:372045/1‑148 (MQ=255)
                                                                    cagccagcgATCGCGCGGCTGGAGCTGGGCCTGACAGCCGAAGAGAAACAAAATCAGCTGGAACAGCTGGCTGAGCACTATGACGAACTGAAACACGAGTTCGAGAAGAAACTCGAAGCGAAACGCCGCAAAATCACCCAGGGcgacga                                                                         >  2:366485/7‑149 (MQ=255)
                                                                      ccgaccgATCGC‑GGGCTGGCGCTGGGCCAGACAGACGAAGAGAAACAAAATCAGCTGGAACAGCTGGCTGAGCACTATGACGAACTGAAACACGAGTTCGAGAAGAAACTCGAAGCGAAACGCCGCAAAATCACCCAGGGCGACGATCt                                                                      <  2:159981/144‑1 (MQ=255)
                                                                        gcgcgATCGC‑TGGCTGGAGCTGGGCCTGACAGACGAAGAGAAACAAAATCAGCTGGAACAGCTGGCTGAGCATTATGACGAACTGAAACACGAGTGCGAGAAGAAACTCGAAGCGAAACGCCGCAAAATCACCCAGGGCGACGATCTgg                                                                    <  1:261992/149‑1 (MQ=255)
                                                                        gcgcgATCGC‑TGGCTGGAGCTGGGCCTGACAGACGAAGAGAAACAAAATCAGCTGGAACAGCTGGCTGAGCACTATGACGAACTGAAACACGAGTTCGAGAAGAAACTCGAAGCGAAACGCCGCAAAATCACCCAGGGCGACGATCTgg                                                                    <  2:139803/149‑1 (MQ=255)
                                                                            gATCGC‑TGGCTGGAGCTGGGCCTGACAGACGAAGAGAAACAAAATCAGCTGGAACAGCTGGCTGAGCACTATGACGAACTGAAACACGAGTTCGAGAAGAAACTCGAAGCGAAACGCCGCAAAATCACCCAGGGCGACGATCTGGCAcc                                                                >  2:342016/1‑149 (MQ=255)
                                                                              tCGC‑TGGCTGGAGCTGGGCCTGACAGACGAAGAGAAACAAAATCAGCTGGAACAGCTGGCTGAGCACTATGACGAACTGAAACACGAGTTCGAGAAGAAACTCGAAGCGAAACGCCGCAAAATCACCCAGAGCGGCGATCTAGTACCgg                                                              >  1:79435/1‑149 (MQ=255)
                                                                              tCGC‑TGGCTGGAGCTGGGCCTGACAGACGAAGAGAAACAAAATCAGCTGGAACAGCTGGCTGAGCACTATGACGAACTGAAACACGAGGTCGAGAAGAAAGTCGAAACGAAACGCCGCGAAATCGCCCAGGGCGACGGGCTGGCACggg                                                              >  1:339320/1‑149 (MQ=255)
                                                                               cGC‑TGACTGGAGCTGGGCATGACAGAAGAAGAGAAACAAAATCAGCTGGAACAGCTGGCTGAGCACTATGACGAACTGAAACACGAGTTCGAGAAGAAACTCGAAGCGAAACGCCGCAAAATCACCCAGGGCGACGATCTGGCACCggg                                                             <  2:351868/149‑1 (MQ=255)
                                                                                            cTGGGCCTGACAGACGAAGAGAAACAAAATCAGCTGGAACAGCTGGCTGAGCACTATGACGAACTGAAACACGAGTTCGAGAAGAAACTCGAAGCGAAACGCCGCAAAATCACCCAGGGCGACGATCTGGCACCGGGCGTGCTGAAGAt                                                 <  2:671035/149‑1 (MQ=255)
                                                                                              gggCCTGACAGACGAAGAGAAACAAAATCAGCTGGAACAGCTGGCTGAGCACTATGACGAACTGAAACACGAGTTCGAGAAGAAACTCGAAGCGAAACGCCGCAAAATCACCCAGGGCGACGATCTGGCACCGGGCGTGCTGAAGATTg                                               <  1:342016/149‑1 (MQ=255)
                                                                                                    gACAGACGAAGAGAAACAAAATCAGCTGGAACAGCTGGCTGAGCACTATGACGAACTGAAACACGAGTTCGAGAAGAAACTCGAAGCGAAACGCCGCAAAATCACCCAGGGCGACGATCTGGCACCGGGCGTGCTGAAGATTGTTAAgg                                         >  1:1038776/1‑149 (MQ=255)
                                                                                                    gACAGACGAAGAGAAACAAAATCAGCTGGAACAGCTGGCTGAGCACTATGACGAACTGAAACACGAGTTCGAGAAGAAACTCGAAGCGAAACGCCGCAAAATCACCCAGGGCGACGATCTGGCACCGGGCGTGCTGAAGATTGTTAAgg                                         <  1:399131/149‑1 (MQ=255)
                                                                                                         aCGAAGAGAAACAAAATCAGCTGGAACAGCTGGCTGAGCACTATGACGAACTGAAACACGAGTTCGAGAAGAAACTCGAAGCGAAGCGCCGCAAAATCACCCAGGGCGACGATCTGGCACCGGGCGTGCTGAAGATTGTTAAGGTatat                                    >  1:924899/1‑149 (MQ=255)
                                                                                                         aCGAAGAGAAACAAAATCAGCTGGAACAGCTGGCTGAGCACTATGACGAACTGAAACACGAGTTCGAGAAGAAACTCGAAGCGAAACGCCGCAAAATCACCCAGGGCGACGATCTGGCACCGGGCGTGCTGAAGATTGTTAAGGTatat                                    >  1:924886/1‑149 (MQ=255)
                                                                                                           gAAGAGAAACAAAATCAGCTGGAACAGCTGGCTGAGCACTATGACGAACTGAAACACGGGTTCGAGAAGAAACTCGACGCGAAACGCCGCAAAATCACCCAGGGCGACGATCTGGCCACGGGCGTGCTGAAGATTGTTAAGGtacacca                                  >  2:317366/1‑144 (MQ=255)
                                                                                                              tggaAACCAAAGCAGCGGGATCTGCTGTCGGAGCACTATGACGAACTGAAACACGAGTTCGAGACGAAACTCGAAGCGCAACGTCGCAAAATCACCCAGGGCGACGATCTGGCACCTGGCGTGCTGAAGATTGTTAAGGTATATCTGGc                               <  2:46351/147‑1 (MQ=255)
                                                                                                               agaAACAAAATCAGCTGGAACAGCTGGCTGAGCACTATGACGAACTGAAACACGAGTTCGAGAAGAAACTCGAAGCGAAACGCCGCAAAATCACCCAGGGCGACGATCTGGCACCGGGCGTGCTGAAGATTGTTAAGGTATATCTGGCg                              <  2:119819/149‑1 (MQ=255)
                                                                                                                  aaCAAAATCAGCTGGAACAGCTGGCTGAGCACTATGACGAACTGAAACACGAGTTCGAGAAGAAACTCGAAGCGAAACGCCGCAAAATCACCCAGGGCGACGATCTGGCACCGGGCGTGCTGAAGATTGTTAAGGTATATCTGGCGGtt                           >  2:556018/1‑149 (MQ=255)
                                                                                                                   aCAAAATCAGCTGGAACAGCTGGCTGAGCACTATGACGAACTGAAACACGAGTTCGAGAAGAAACTCGAAGCGAAACGCCGCAAAATCACCCAGGGCGACGATCTGGCACCGGGCGTGCTGAAGATTGTTAAGGTATATCTGGCGGTTa                          >  1:516990/1‑149 (MQ=255)
                                                                                                                   aCAAAATCAGCTGGAACAGCTGGCTGAGCACTATGACGAACTGAAACACGAGTTCGAGAAGAAACTCGAAGCGAAACGCCGCAAAATCACCCAGGGCGACGATCTGGCACCGGGCGTGCTGAAGATTGTTAAGGTATATCTGGCGGTTa                          >  1:411122/1‑149 (MQ=255)
                                                                                                                        aTCAGCTGGAACAGCTGGCTGAGCACTATGACGAACTGAAACACGAGTTCGAGAAGAAACTCGAAGCGAAACGCCGCAAAATCACCCAGGGCGACGATCTGGCACCGGGCGTGCTGAAGATTGTTAAGGTATATCTGGCGGTTAAACGc                     <  2:516143/149‑1 (MQ=255)
                                                                                                                              tGGAACAGCTGGCTGAGCACTATGACGAACTGAAACACGAGTTCGAGAAGAAACTCGAAGCGAAACGCCGCAAAATCACCCAGGGCGACGATCTGGCACCGGGCGTGCTGAAGATTGTTAAGGTATATCTGGCGGTTAAACGCCGTATc               >  1:809632/1‑149 (MQ=255)
                                                                                                                              tGGAACAGCTGGCTGAGCACTATGACGAACTGAAACACGAGTTCGAGAAGAAACTCGAAGCGAAACGCCGCAAAATCACCCAGGGCGACGATCTGGCACCGGGCGTGCTGAAGATTGTTAAGGTATATCTGACGGGTAACCGCCGGATc               >  2:323309/1‑149 (MQ=255)
                                                                                                                                gAAGAGCTGGGTGGGGACTATGACGAACTGAAACACGAGTTCGTGAAGAAGCTCGAAGGGAAACGCCGCAAAATCACCCAGGGCGACGGTCTGGCACCGGGCGTGCTGAAGATTGTTAAGGTATATGTGGCGGTTAAACGCCGTATCCa             <  2:651566/149‑1 (MQ=255)
                                                                                                                                   cAGCGGGCGGAGCACTATGACGAAATGAAACACGAGTTCGAGAAGAAACTCGAAGCGAAACGCCGCAAAATCACCCAGGGCGACGAGCTGGCACCGGGCGTGCTGAAGATTGTTAAGGTATATCTGGCGGTTAAACGCCGTATCCAGcc          <  1:412496/149‑1 (MQ=255)
                                                                                                                                           tgAGCACTATGACGAACTGAAACACGAGTTCGAGAAGAAACTCGAAGCGAAACGCCGCAAAATCACCCAGGGCGACGATCTGGCACCGGGCGTGCTGAAGATTGTTAAGGTATATCTGGCGGTTAAACGCCGTATCCAGCCTGGTGACa  <  2:411122/149‑1 (MQ=255)
                                                                                                                                           tgAGCACTATGACGAACTGAAACACGAGTTCGAGAAGAAACTCGAAGCGAAACGCCGCAAAACCACCCAGGGCGACGATCTGGCACCGGGCGTGGCGAAGCTAGTTAAGGACTACGTGGCGGTTACACGCCGTATCCAGCTGTGTGACa  >  2:422027/1‑149 (MQ=255)
                                                                                                                                                 |                                                                                                                                              
GGGTCTGTTCAGCCGTATCCGTGCTGTGCTGGTAGCCGGTGGCGTTGAAGCTGAGAAGCTCGACAAACTGCCGCGCGATCGC‑TGGCTGGAGCTGGGCCTGACAGACGAAGAGAAACAAAATCAGCTGGAACAGCTGGCTGAGCAGTATGACGAACTGAAACACGAGTTCGAGAAGAAACTCGAAGCGAAACGCCGCAAAATCACCCAGGGCGACGATCTGGCACCGGGCGTGCTGAAGATTGTTAAGGTATATCTGGCGGTTAAACGCCGTATCCAGCCTGGTGACA  >  NC_000913_3_hsa_tpiA/4184133‑4184419

Alignment Legend
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 8 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 32 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG
Unaligned base: atcg    Masked matching base: atcg    Alignment gap: ‑    Deleted base: ‑