Predicted mutation
evidence seq id position mutation freq annotation gene description
RA NC_000913_3_hsa_tpiA 2,310,893 C→T 18.8% A214A (GCG→GCA)  apbE ← putative thiamine‑synthetic flavin transferase lipoprotein

Read alignment evidence...
  seq id position ref new freq score (cons/poly) reads annotation genes product
*NC_000913_3_hsa_tpiA2,310,8930CT18.8% 52.5 / 2.8 34A214A (GCG→GCA) apbEputative thiamine‑synthetic flavin transferase lipoprotein
Reads supporting (aligned to +/- strand):  ref base C (13/14);  new base T (3/4);  total (16/18)
Fisher's exact test for biased strand distribution p-value = 1.00e+00
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 1.00e+00

GTTCGTAATAGTTACGGTAGCTGCCAGAGGTGCTAATCCCATGACCGTTGATATCCACCACAGCCTGAACCGCGTTTTCTTTATCGGTTGGTTTTTGAATCGCTACCCGCCACGGCAGGCCTTCACCGTTCATACCACGGCTGTTCAGCGCGCCGCCCACCGACACCAGATAGCGGGAAATCCCTTCCTGCTCCATCAAGCGTGCCAAATGATCGGCCGCATAGCCTTCGCCGACGGTGGAGAGATCGACATATAAATCCGGCAGGTCTTTTTGCAGATATTGCTGATGC  >  NC_000913_3_hsa_tpiA/2310745‑2311034
                                                                                                                                                    |                                                                                                                                             
gTTCGTAATAGTTACGGTAGCTGCCAGAGGTGCTAATCCCATGACCGTTGATATCCACCACAGCCTGAACCGCGTTTTCTTTATCGGTTGGTTTTTGAATCGCTACCCGCCACGGCAGGCCTTCACCGTTCATACCACGGCTGTTCAgc                                                                                                                                               >  1:345438/1‑149 (MQ=255)
     tAATAGTTACGGTACCTGCCAGAGGTGCTAATCCCATGACCGTTGATATCCACCACAGCCTGAACCGCGTTTTCTTTATCGGTTGGTTTTTGAATCGCTACCCGCCACGGCAGGCCTTCACCGTTCATACCACGGCTGTTCAGCGcgcc                                                                                                                                          <  1:39668/149‑1 (MQ=255)
           ttgcGGTAGCTGCCAGAGGTGCTAATCCCATGACCGTTGATATCCACCACAGCTTGAGCCGGGTTTTGTTTTTTGGTTGGTTTTTGAATCGCTACTTGTCACGGCAGGCCTTGTGCGTTTGTTTCATGGCTGTTCGGTGCGCGGcccgc                                                                                                                                    >  2:306723/4‑147 (MQ=255)
                 tAGCTGCCAGAGGTGCTAATCCCATGACCGTTGATATCCACCACAGCCTGAACCGCGTTTTCTTTATCGGTTGGTTTTTGAATCGCTACCCGCCACGGCAGGCCTTCACCGTTCATACCACGGCTGTTCAGCGCGCCGCCCACCGacac                                                                                                                              <  2:537122/149‑1 (MQ=255)
                          gagGTGCTAATCCCATGACCTTTGATATCCACCACAGCCTGAACCGCGTTTTCTTTATCGGTTGGTTTTTGAATCGTTACCCGCCACTGCAGGCCTTCACCGTTCATATTTTTGTTGTACGATACGGCGACCACCGACACCAGATAGCg                                                                                                                     <  2:734292/149‑1 (MQ=255)
                           agGTGCTAATCGCTTGACCGTTGATATCCACCACGGCCTGAACCGCGTTTTCTTTATCGGTTGGTTTTGGAATGGTTCCCCGTTACGGCAGGCCTTCACCGTTCATTTTTTGGTTTTTTGACGCGGCGCCCACCGAGACCAGATAGCgg                                                                                                                    <  2:800299/149‑1 (MQ=255)
                           agGTGCTAATCCCACGACCGTTGATATCCACCACAGCCTGAACCGCTTTTTCTTTATCGGTTGGTTTTTGAATCGCTACCCGCCACGGCAGGCCTTCACCGTTCATACCACGGCTGTTCAGCGCGCCGACCACCGACACCAGATAGCgg                                                                                                                    <  2:82186/149‑1 (MQ=255)
                                    tCCCATGACCGTTGATATCCACCACAGCCTGCACCGCGTTTTCTTCATCGGTTGGTTTTTGAATCGCTACCCGCCACGGCAGGCCTTCCCCGTTCATACCACGGCTGTTCAGCGCGCCGCCCACCGACACCAGCTAGCGGGAAATCCCt                                                                                                           >  2:621104/1‑149 (MQ=255)
                                       cATGACCGTTGATATCCACCACAGCCTGAACCGCGTTTTCTTTATCGGTTGGTTTTTGAATCGCTACCCGCCACGGCAGGCCTTCACCGTTCATACCACGGCTGTTCAGCGCGCCGCCCACCGACACCAGATAGCGGGAAGTCCCTTct                                                                                                        >  1:604631/1‑148 (MQ=255)
                                           gccGTTGATATCCACAACAGCTGGACCCGCGTTGTCTTTATCGGTTGGTTTTTGAATCGCTACCCGCTATGGCAGGCCTTCACCGTTCATACCACGGCTGTTCAGCGCGACGCCGCCCGACACTACATACCGGGACATCCCTGccacct                                                                                                    >  2:687702/2‑145 (MQ=255)
                                               ttGATATCCACCACAGCCTGAACCGCGTTTTCTTTATCGGTTGGTTTTTGAATCGCTACCCGCCACGGCAACCCTTCACCGTTCAGACCACGGCTGTTCAGCGCGCCGCCCCACGACACCAGTCAGCGGGAAGCCGCTTCCCGCtacct                                                                                                >  2:778832/1‑145 (MQ=255)
                                                  atatCCACCACAGCCTGAACCGCGTGTTGTTTATCGGTTGGTTTTTGAATCGCTACCCGCCACGGCAGGCCTTCACCGTTCATACTTCGGTTGTATGGTGCGCCGACCACCGACACCAGATAGCGGGAAATCCCTTCCTGCTCCATCaa                                                                                             <  2:804105/149‑1 (MQ=255)
                                                    atCCACCACAGCCTGAACCGCGTTTTCTTTATCGGTTGGTTTTTGAATCGCTACCCGCCACGGCAGGCCTTCCCCGTTCATACCACGGCTGTTCCGCGCGCGGCCCACCGACACCAGATAGCGGGCAATCCCTCCCTCCTCGATCagac                                                                                           >  2:47240/1‑146 (MQ=255)
                                                            caGCCGGCACCGCGTTTTCTTCATCGGTTGGTTTTTGAATCGCTACCCGCCACGGCAGGCCTTCACCGTTCATACCATGGTTGATTGGTGCGCCGACCACCGAGACCAGATAGCGGGAAATCCCTTCCTGCTCCATCAAGCGTGCCaaa                                                                                   <  2:280008/149‑1 (MQ=255)
                                                                cTGAACCGCGTTTTCTTTATCGGTTGGTTTTTGAATCGCTACCCGCCACGGCAGGCCTTCACCGTTCATACCACGGCTGTTCAGCGCGCCGCCCACCGACACCAGATAGCGGGAAATCCCTTCCTGCTCCATCAAGCGTGCCAAATGAt                                                                               <  1:126202/149‑1 (MQ=255)
                                                                     ccGCGTTTTCTTTATCGGTTGGTTTTTGAATCGCTACCCGCCACGGCAGGCCTTCACCGGTCATACCACGGCTGTTCAGCGCGCCGCCCACCGACACCAGATAGCGGGAAATCCCTTCCTGCTCCATCAAGCGTGCCAAATGATCGGcc                                                                          <  1:235431/149‑1 (MQ=255)
                                                                      cgcgTTTTCTTTATCGGTTGGTTTTTGAATCGCTACCCGCCACGGCAGGCCTTCACCGTTCATACCACGGCTGTTCAGCGCGCCGCCCACCGACACCAGATAGCGGGAAATCCCTTCCTGCTCCATCAAGCGTGCCAAAGAATCGGCCg                                                                         >  1:672760/1‑149 (MQ=255)
                                                                        cgTTTTCTTTATCGGTTGGTTTTTGAATCGCTACCCGCCACGGCAGGCCTTCACCGTTCATACCACGGCTGTTCAGCGCGCCGCCCACCGACACCAGATAGCGGGAAATCCCTTCCTGCTCCATCAAGCGTGCCAAATGATCGGCCGCa                                                                       <  1:631174/149‑1 (MQ=255)
                                                                                   tCGGTTGGTTTTTGAATCGCTACCCGCCACGGCAAGCCTTCACCGTTCATACCACGGCGGTGCAGCGCGCCGCCCACCGACACCAGATAGCGGGAAATCCCTTCCTGCTCCATCAAGAGTGCCAAGTGAGCGGCCGCAGAGCCTTCAcc                                                            >  2:228469/1‑149 (MQ=255)
                                                                                     gatctgttTTTGAATCGCTACCCGCCACGGCAGGCCTTCACCGTTCATACCACGGCTGTTCAGCGCGCCGCCCACCGACACCAGATAGCGGGAAATCCCTTCCTGCTCCATCAAGCGTGCCAAATGATCGGCCGCATAGCCTTCGCCGa                                                          <  1:26602/144‑1 (MQ=255)
                                                                                      gttggttTTTGAATCGCTACCCGCCACGGCAGGCCTTCACCGTTCATACCACGGCTGTTCAGCGCGCCGCCCACCGACACCAGATAGCGGGAAATCCCTTCCTGCTCCATCAAGCGTGCCAAGTGATCGGCCGCGTAGCCTTCGCCGAc                                                         >  1:308553/1‑149 (MQ=255)
                                                                                           tttttGAATCGCTACCCGCCACGGCAGGCCTTCACCGTTCATACCACGGCTGTTCAGCGCGCCGCCCACCGACACCAGATAGCGGGAAATCCCTTCCTGCTCCCTCAAGCGTGCCAACTGCTCGGCCGAATAGCCTTCGCCGAcagatc                                                    >  2:26602/1‑144 (MQ=255)
                                                                                           tttttGAATCGCTACCCGCCACGGCAGGCCTTCACCGTTCATACCACGGCTGTTCAGCGCGCCGCCCACCGACACCAGATAGCGGGAAATCCCTTCCTGCTCCATCAAGCGTGCCAAATGATCGGCCGCATAGCCTTCGCCGACGGTgg                                                    >  1:488421/1‑149 (MQ=255)
                                                                                                  aTCGCTCTCCGCCACGCTAGGCCTTCCCCGTTCATACGCCGGCTGTACAGCACGCCGCCCACCGACACCAGATAGCGGGAAATCCCTTCCTGCTCCATCAAGCGTGCCAAATGATCGGCCGCATAGCCTTCGCCGACGGTGGAGAGATc                                             <  2:537668/149‑1 (MQ=255)
                                                                                                     gtcctccGCCACGGCAGGCCTTCCCCGTTCATTCTTCGGCTGTACGGCGCGCCGCCCACCGACACCAGATAGCGGGAAATCCCTTCCTGCTCCATCAAGCGTGCCAAATGATCGGCCGCATAGCCTTCGCCGACGGTGGAGAGATCGAc                                          <  2:670299/144‑1 (MQ=255)
                                                                                                                         ttCACCGTTCATACCAAGGCTGTTCAGCGCGCCGCCCACCGACACCAGATAGCGGCAAATCCCTTCCTGCTCCATCAAACGTGCCAACTGATCGGCCGCATAGCCTTCTCCGCCAGTGGAGAGACAGACATATACATCCGGGAGGTCtg                      >  1:541123/1‑148 (MQ=255)
                                                                                                                          tCACCGTTCATACCACGGCTGTTCAGCGCGCCGCCCACCGACACCAGATAGCGGGAAATCCCTTCCTGCTCCATCAAGCGTGCCAAATGATCGGCCGCATAGCCTTCGCCGACGGTGGAGAGATCGACATATAAATCCGGCAGGTCttt                     <  1:412951/149‑1 (MQ=255)
                                                                                                                           cACCGTTCATACCACGTCTGTTCAGCGCGCCGCCCACCGACACCAGATAGCGGGAAATCCCTTCCTGCTCCATCAAGCGTGCCAAATGATCGGCCGCATAGCCTTCGTCGACGGTGGAGAGATCGACATATAAATCCGGCAGGTCtttt                    <  2:348073/149‑1 (MQ=255)
                                                                                                                             ccGTTCATACCACGGCTGTTCAGCGCGCCGCCCACCGACACCAGATAGCGGGAAATCCCTTCCTGCTCCATCAAGCGTGCCAAATGATCGGCCGCATAGCGTTCGCCGACGGTGGAGAGATCGACATATAAATCCGGCAGGTCTTTTTg                  >  1:48064/1‑149 (MQ=255)
                                                                                                                               gTTCATACCACGGCTGTTCGGCGCGCCGCCCACCGACACCAGATAGCGGGAAATCCCTTCCTGCTCCATCAAGCGTGCCAAATGATCGGCCGCATAGCCTTCGCCGACGGTGGAGAGATCGACATATAAATCCGGCAGGTCTTTTTGCa                <  2:432397/149‑1 (MQ=255)
                                                                                                                                   aTACCACGGCTGTTCAGTGCGCCGCCCACCGACACCAGATAGCGGGAAATCCCTTCCTGCTCCATCAAGCGTGCCAAATGATCGGCCGCATAGCCTTCGCCGACGGTGGCGGGATCGACATATAAATCCGGCAGGTCTTTTTGCAGgta            >  1:114310/1‑149 (MQ=255)
                                                                                                                                   aTACCACGGCTGTTCAGTGCGCCGCCCACCGACACCAGATAGCGGGAAATCCCTTCCTGCTCCATCAAGCGTGCCAAATGATCGGCCGCATAGCCTTCGCCGACGGTGGAGAGATCGACATATAAATCCGGCAGGTCTTTTTGCAGata            >  1:411109/1‑149 (MQ=255)
                                                                                                                                   aTACCACGGCTGTTCAGCGCGCCGCCCACCGACACCAGATAGCGGGAAATCCCTTCCTGCTCCATCAAGCGTGCCAAATGATCGGCCGCATAGCCTTCGCCGACGGTGGAGAGAACTACAAAAAAATTGTGCAGGTATTTATTGAGata            >  1:610674/1‑149 (MQ=255)
                                                                                                                                          ggCTGTTCAGTCCGCCGCCCACCGACACCAGATAGCGGGAAATCCCTTCCTGCTCCATCAAGCGTGCCAAATGATCGGCCGCATAGCCTTCGCCGACGGTGGAGAGATCGACATATAAATCCGGCAGGTCTTTTTGCAGATATTGCTGa     <  2:483112/149‑1 (MQ=255)
                                                                                                                                             tGTTCAGCGCGCCGCCCACCGACACCAGATAGCGGGAAATCCCCTCCTGCTCCATCAAGCGGGCCAAATGATCGGCCGCAGAGCCTTCGCCGACGGTGGAGGGATCGACATATAAATCCGGCAGGTCTTTTTGCAGATATTGCTGATGc  <  1:276539/149‑1 (MQ=255)
                                                                                                                                                    |                                                                                                                                             
GTTCGTAATAGTTACGGTAGCTGCCAGAGGTGCTAATCCCATGACCGTTGATATCCACCACAGCCTGAACCGCGTTTTCTTTATCGGTTGGTTTTTGAATCGCTACCCGCCACGGCAGGCCTTCACCGTTCATACCACGGCTGTTCAGCGCGCCGCCCACCGACACCAGATAGCGGGAAATCCCTTCCTGCTCCATCAAGCGTGCCAAATGATCGGCCGCATAGCCTTCGCCGACGGTGGAGAGATCGACATATAAATCCGGCAGGTCTTTTTGCAGATATTGCTGATGC  >  NC_000913_3_hsa_tpiA/2310745‑2311034

Alignment Legend
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 8 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 27 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG
Unaligned base: atcg    Masked matching base: atcg    Alignment gap: ‑    Deleted base: ‑