Predicted mutation
evidence seq id position mutation freq annotation gene description
RA NC_000913_3_hsa_tpiA 4,183,136 G→T 57.7% R637L (CGT→CTT)  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_tpiA4,183,1360GT57.7% 4.6 / 32.5 33R637L (CGT→CTT) rpoBRNA polymerase, beta subunit
Reads supporting (aligned to +/- strand):  ref base G (3/11);  new base T (7/12);  total (10/23)
Fisher's exact test for biased strand distribution p-value = 4.55e-01
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 5.79e-01

CGTATCGTAAAGTGACCGACGGTGTTGTAACTGACGAAATTCACTACCTGTCTGCTATCGAAGAAGGCAACTACGTTATCGCCCAGGCGAACTCCAACTTGGATGAAGAAGGCCACTTCGTAGAAGACCTGGTAACTTGCCGTAGCAAAGGCGAATCCAGCTTGTTCAGCCGCGACCAGGTTGACTACATGGACGTATCCACCCAGCAGGTGGTATCCGTCGGTGCGTCCCTGATCCCGTTCCTGGAACACGATGACGCCAACCGTGCATTGATGGGTGCGAACAT  >  NC_000913_3_hsa_tpiA/4182995‑4183280
                                                                                                                                             |                                                                                                                                                
cGTATCGTAAAGTGACCGACGGTGTTGTAACTGACGAAATTCACTACCTGTCTGCTATCGAAGAAGGCAACTACGTTATCGCCCAGGCGAACTCCAACTTGGATGAAGAAGGCCACTTCGTAGAAGACCTGGTAACTTGCCTTAGCaaa                                                                                                                                           <  1:325473/149‑1 (MQ=255)
cGTATCGTAAAGTGACCGACGGTGTTGTAACTGACGAAATTCACTACCTGTCTGCTATCGAAGAAGGCAACTACGTTATCGCCCAGGCGAACTCCAACTTGGATGAAGAAGGCCACTTCGTAGAAGACCTGGTAACTTGCCTTAGCaaa                                                                                                                                           <  1:222957/149‑1 (MQ=255)
  tATCGTAAAGTGACCGACGGTGTTGTAACGGACGAAATTCACTACCTGTCTGCTATCGAAGAAGGCAACTACGTTATCGCCCAGGCGAACTCCAACTTGGATGAAGAAGGCCACTTCGTAGAATACCTGGTAACTTGCCTTAGCAAAgg                                                                                                                                         <  1:57424/149‑1 (MQ=255)
  gaTCGGAAAGTGACCGCCTGTGTTGTAACTGTCGAAATTCACTACCTGTCTGCTATCGAAGAAGGCAACTCCGTTATCGCCCAGGCGAACTCCAACTTGGATGAAGAAGTCAACTTCGTAGAAGACCTGGTAACTTGCCTTAGCAAAgg                                                                                                                                         <  2:65823/148‑1 (MQ=255)
           gTGACCGACGGTGTTGTAACTGACGAAATTCACTACCTGTCTGCTATCGAAGAAGGCAACTACGTTATCGCCCAGGCGAACTCCAACTTGGATGAAGAAGGCCACTTCGTAGAAGACCTGGTAACTTGCCGTAGCAAAGGCGAATCCAg                                                                                                                                <  1:230549/149‑1 (MQ=255)
           gTGACCGACGGTGTTGTAACGGACGAAATTCACTACCTGTCTGCTATCGAAGAAGGCAACTACGTTATCGCCCAGGCGAACTCCAACTTGGATGAAGAAGGCCACTTCGTAGAAGACCTGGTAACTTGCCGTAGCAAAGGCGAATCCAg                                                                                                                                <  1:176681/149‑1 (MQ=255)
                    ggTGTTGTAACTGACGAAATTCACTACCTGTCTGCTATCGAAGAAGGCAACTACGTTATCGCCCAGGCGAACTCCAACTTGGATGAAGAAGGCCACTTCGTAGAAGACCTGGTAACTTGCCTTAGCAAAGGCGAATCCAGCTTGTTCAg                                                                                                                       >  1:609549/1‑149 (MQ=255)
                    ggTGTTGTAACTGACGAAATTCACTACCTGTCTGCTATCGAAGAAGGCAACTACGTTATCGCCCAGGCGAACTCCAACTTGGATGAAGAAGGCCACTTCGTAGAAAACCTGGTAACTTGCCTTAGCAAAGGCGAATCCAGCTTGTTCAg                                                                                                                       >  1:507752/1‑149 (MQ=255)
                     ctgctgtAACTGACATTATTTATTTCCTCTCTTCTATCTAAGAAGTCTACTACTTTATCGCCCAGTCAAACTCCAACTTCGATGAAGAAGCCCACTTCGTACAACACTTGGTCACTTTCCGTAGCAAAGGCGAATCCAGCTTGTTCAGc                                                                                                                      <  2:426971/145‑1 (MQ=255)
                          gtAACGGGCGGAATTCCCTACCTGTCTGCTAGCGAAGAAGGCAACTAAGTTATCGCCCAGGCGAACTCCAACTGGGATGAAGAAGGCCACTTCGTAGAAGACCTGGTAACTTGCCTTAGCAAAGGCGAATCCAGCTTGTTCAGCCGCGa                                                                                                                 <  2:15391/149‑1 (MQ=255)
                           tAACTGACAAATTTCACTACCTGTCTGCTATCGAAGAAGGCAACTACGTTATCGCCCAGGCGAACTCCAACTTGGATGAAGAAGGCCACTTCGTAGAAGACCTGGTAACTTGCCGTAGCAAAGGCGAATCCAGCTTGTTCAGCCGCGAc                                                                                                                <  1:234585/149‑1 (MQ=255)
                               tGACGAAATTCACTACCTGTCTGCTATCGAAGAAGGCAACTACGTTATCGCCCAGGCGAACTCCAACTTGGATGAAGAAGGCCACTTCGTAGAAGACCTGGTAACTTGCCTTAGCAAAGGCGAATCTAGCTTGTTTAGCCGCGACCAgg                                                                                                            >  1:230983/1‑149 (MQ=255)
                                   gAAATGCACTAGCTGTCTGCGACCGAAGAAGGCAACTACGTTATCGCCCAGGCGAACTCCAACTTGGATGAAGAAGGCCACTTCGTAGAAGACCTGGTAACTTGCCGTAGCAAAGGCGAATCCAGCTTGTTCAGCCGCGACCAGGTTGa                                                                                                        <  1:38128/149‑1 (MQ=255)
                                         cACTACCTGTCTGCTATCGAAGAAGGCAAATACGTTATCGCCCAGGCGAACTCCAACTCGGATGAAGAAGGCCACTTCGTAGAAGTGCTTGTAACTTGGCGTAGCAAAGGCTAATCCAGCTTGTTCAGCCGCGACCAGGTTGACTACAt                                                                                                  <  2:454832/149‑1 (MQ=255)
                                             aCCTGTCTGCTAACGAAGAAGGCAACTACGGTATCGCCCAGGCGAACTCCAACTTGGATGAAGAAGGCCACTTCGTAGAAGACCTGGTAACTTGCCTTAGCAAAGGCGAATCCAGCTTGTTCAGCCGCGACCAGGTTGACTACATGGAc                                                                                              <  1:241135/149‑1 (MQ=255)
                                               cTGTCTGCTATCGAAGAAGGCAACTACGTTATCGCCCAGGCGAACTCCAACTTGGATGAAGAAGGACACTTCGTAGAAGACCTGGTAACTTGCCGTAGCAAAGGCGAATCCAGCTTGTTCAGCCGCGACCAGGTTGACTACATGGACGt                                                                                            >  2:522759/1‑149 (MQ=255)
                                                 gTCTGCTATCGAAGAAGGCAACTACGTTATCGCCCAGGCGAACTCCAACTTGGCTGACGCAGGCCACTTCCTACAAGACCTGGTCACTTGCCTTAACAAAAGCGAACCCAGCTTGATCCGCCGCGACCATTTTGACTACATTCACGTAt                                                                                          >  2:273423/1‑149 (MQ=255)
                                                      cTATCGAAGAAGGCAACTACGTTATCGCCCAGGCGAACTCCAACTTGGATGAAGAAGGCCACTTCGTAGAAGACCTGGTAACTTGCCTTAGCAAAGGCGAATCCAGCTTGTTCAGCCGCGACCAGGTTGACTACATGGACGTATCCAcc                                                                                     <  1:151781/149‑1 (MQ=255)
                                                          cGAAGAAGGCAACTACGTTATCGCCCAGGCGAACTCCAACTTGGATGAAGAAGGCCACTTCGTAGAAGACCTGGTAACTTGCCTTAGCAAAGGCGAATCCAGCTTGTTCAGCCGCGACCAGGTTGACTACATGGACGTATCCACCcagc                                                                                 >  1:261232/1‑149 (MQ=255)
                                                             agaagGCAACTACGTTATCGCCCAGGCGAACTCCAACTTGGATGAAGAAGGCCACTTCGTAGAAGACCTGGTAACTTGCCGTAGCAAAGGCGAATCCAGCTTGTTCAGCCGCGACCAGGTTGACTACATGGACGTATCCTCCCAGCAgg                                                                              <  1:322843/149‑1 (MQ=255)
                                                                 ggCAACTACCGTAACGCCCAGGCGAACTCCAACTTGGATGAAGAAGGCCACTTCGTAGAAGACCTGGTAACTTGCCTTAGCAAAGGCGAATCCAGCTTGTTCAGCCGCGACCAGGTTGACTACATGGACGTATCCACCCAGCAggtggt                                                                          <  1:150435/149‑1 (MQ=255)
                                                                   cAACTACGTTAGCGCGCAGGCGAACTCCAACTTGGATGAAGAAGGCCACTTCGTAGAAGACCTGGTAACTTGCCTTAGCAAAGGCGAATCCAGCTTGTTCAGCCGCGACCAGGTTGACTACATGGACGTATCCACCCAGCAGGTGGTAt                                                                        <  2:281807/149‑1 (MQ=255)
                                                                       tACGTTATCGCCCAGGCGAACTCCAACTTGGATGAAGAAGGCCACTTCGTAGAAGACCTGGTAACTTGCCTTAGCAAAGGCGAATCCAGCTTGTTCAGCCGCGACCAGGTTGACTACATGGACGTATCCACCCAGGAGGTGGTATCCGt                                                                    >  1:47353/1‑149 (MQ=255)
                                                                                      gccaaCTCCAACTTGGATGAAGAAGGCCACCTCGTAGAAGACCTGGTAACTTGCCTTAGCAAAGGCCAATCCAGCTTGTTCAGCCGCGACCAGGTTGACTACATGGACGTATCCACCCAGCAGGTGGTATCCGTCGGTGCGTCCCTGAt                                                     <  2:451661/146‑1 (MQ=255)
                                                                                              cAACTTGCAGGAAGAAGGCCACTTCGTAGAAGACCTGGTAACTTGCCGTAGCAAAGGCGAATCCAGCTTGTTCAGCCGCGACCAGGTTGACTACATGGACGTATCCTCCCAGCAGGTGGTATCCGTCGGTGCGTCCCTGATCCCGTTcc                                             <  2:371383/149‑1 (MQ=255)
                                                                                                aCTTGGATGAAGAAGGCCACTTCGTAGAAGACCTGGTAACTTGCCGTAGCAAAGGCGAATCCAGCTTGTTCAGCCGCGACCAGGTTGACTACATGGACGTATCCTCCCAGCAGGTGGTATCCGTCGGTGCGTCCCTGATCCCGTTCCTg                                           <  1:181631/149‑1 (MQ=255)
                                                                                                       tGAAGAAGGCCACTTCGTAGAAGACCTGGTAACTTGCCGTAGCAAAGGCGAATCCAGCTTGTTCAGCCGCGACCAGGGTGACTACATGGACGTATCCACCCAGCAGGTGGTATCCGTCGTTGCGTCCCTGATCCCGGTCCTGGAACACg                                    >  1:238263/1‑149 (MQ=255)
                                                                                                                 cACTTCGTAGAAGACCTGGTAACTTGCCTTAGCAAAGGCGAATCCAGCTTGTTCAAACGCGACCAGGTTGACTACATGGACGTCTCCAACCAGCAGGGCGTATCCGTCGATGCGTCCCTGATCCCGTCCCTGGAACACGATGACGCCaa                          >  2:484979/1‑149 (MQ=255)
                                                                                                                        tAGAAGACTTGGTAACTTGCCTTAGCAAAGGCGAATCCAGCTTGTTCAGCCGCGACCAGGTTGACTACATGGACGTATCCACCCAGCAGGTGGTATCCGTCGGTGCGTCCCTGATCCCGTTCCTGGAACACGATGACGCCAACCGTGCa                   <  2:328913/149‑1 (MQ=255)
                                                                                                                        tAGAAGACCTGGTAACTTGCCGTAGCAAAGGCGAATCCAGCTTGTTCAGCCGCGACCAGGTTGACTACATGGACGTATCCTCCCAGCAGGTGGTATCCGTCGGTGCGTCCCTGATCCCGTTCCTGGAACACGCTGACGCCAACCGTGCa                   >  1:566985/1‑149 (MQ=255)
                                                                                                                                      aCTTGCCGTAGCAAAGGCGAATCCAGCTTGTTCAGCCGCGACCAGGTTGACTACACGGACGTAGCCTCCCAGCAGGTGGTATCCGTCGGTGCGTCCCTGATCCCGTTCCTGGAACACGATGACGCCAACCGTGCATTGATGGGTGCGaa     <  1:549762/149‑1 (MQ=255)
                                                                                                                                      aCTTGCCGTAGCAAAGGCGAATCCAGCTTGTTCAACCGCGACCAGGTTGACTACAAGGACGTAACCTCCCAGCAGGTGGTATCCGTCGGTGCGTCCCTGATCCCGTTCCTGGAACACGATGACGCCAACCGTGCATTGATGGGTGCGaa     <  1:549697/149‑1 (MQ=255)
                                                                                                                                         tGCCTTAGCAAAGGCGAAACCAACTTTTTCAGCCGCGACCAGGTTGACTACATGGACGTATCCACCCAGCAGGTGGTATCCGTCGGTGCGTCCCTGATCCCGTTCCTGGAACACGATGACGCCAACCGTGCATTGATGGGTGCGAACAt  <  2:230983/149‑1 (MQ=255)
                                                                                                                                             |                                                                                                                                                
CGTATCGTAAAGTGACCGACGGTGTTGTAACTGACGAAATTCACTACCTGTCTGCTATCGAAGAAGGCAACTACGTTATCGCCCAGGCGAACTCCAACTTGGATGAAGAAGGCCACTTCGTAGAAGACCTGGTAACTTGCCGTAGCAAAGGCGAATCCAGCTTGTTCAGCCGCGACCAGGTTGACTACATGGACGTATCCACCCAGCAGGTGGTATCCGTCGGTGCGTCCCTGATCCCGTTCCTGGAACACGATGACGCCAACCGTGCATTGATGGGTGCGAACAT  >  NC_000913_3_hsa_tpiA/4182995‑4183280

Alignment Legend
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 13 ≤ ATCG/ATCG < 27 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG
Unaligned base: atcg    Masked matching base: atcg    Alignment gap:     Deleted base: