Predicted mutation
evidence seq id position mutation freq annotation gene description
RA NC_000913_3_hsa_tpiA 4,187,572 G→T 19.7% M747I (ATG→ATT)  rpoC → RNA polymerase, beta prime subunit

Read alignment evidence...
  seq id position ref new freq score (cons/poly) reads annotation genes product
*NC_000913_3_hsa_tpiA4,187,5720GT19.7% 86.9 / 9.8 46M747I (ATG→ATT) rpoCRNA polymerase, beta prime subunit
Reads supporting (aligned to +/- strand):  ref base G (20/17);  new base T (3/6);  total (23/23)
Fisher's exact test for biased strand distribution p-value = 4.59e-01
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 5.96e-01

CAAACTGAAACCGTGATTAACCGTGACGGTCAGGAAGAGAAGCAGGTTTCCTTCAACAGCATCTACATGATGGCCGACTCCGGTGCGCGTGGTTCTGCGGCACAGATTCGTCAGCTTGCTGGTATGCGTGGTCTGATGGCGAAGCCGGATGGCTCCATCATCGAAACGCCAATCACCGCGAACTTCCGTGAAGGTCTGAACGTACTCCAGTACTTCATCTCCACCCACGGTGCTCGTAAAGGTCTGGCGGATACCGCACTGAAAACTGCGAACTCCGGTTAC  >  NC_000913_3_hsa_tpiA/4187435‑4187716
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cAAACTGAAACCGTGATTAACCGTGACGGTCAGGAAGAGAAGCAGGTTTCCTTCAACAGCATCTACATGATGGCCGACTCCGGTTCGCGTGGTTCTGCGGCACAGATTCGTCAGCTTGCTGGTATGCGTGGTCTGATGGCGAAGCCGGa                                                                                                                                       <  1:684428/149‑1 (MQ=255)
 aaaCTGAAACCGGGATTAACCGTGACGGTCAGGAAGAGAAGCAGGTTTCCTTCAACAGCATCTACATGATGGCCGACTCCGGTGCGCGTGGTTCTGCGGCACAGATTCGTCAGCTTGCTGGTATGCGTGGTCTGATGGCGAAGCCGGAt                                                                                                                                      <  1:81185/149‑1 (MQ=255)
   aatggaaCAGTGATTGACGGTGGCGGTTGGGAAGAGAAACAGGTTTACTTCAACAGCATCTACATGGTGGCCGAATCCCGTGCGCGTGGTTCTGCGGCACCGATTCGTGAGCTTGCTGGTATGCGCGGTCTGCTGGCGCGGCCGGATgg                                                                                                                                    >  2:411112/6‑149 (MQ=255)
            gtaaTTAACTGGGACTGTCGGGAAGGTAAGCAGGTTTCCTTTAATGGCATCTTCTCGGTGGCCGACTCCGGTGCGCGGGGGTTTTGGGCACCGATGCGTCAGCCTGCTGGTATGCGGGGTCCGATGGCGAAGCCGGATGGCTCcatcat                                                                                                                           <  2:2713/146‑1 (MQ=255)
             tGATTAACCGTGACGGTCAGGAAGAGAAGCAGGTTTCCTTCAACAGCATCTGCATGATGGCCGACTCCGGTGCGCGTGGTTCTGCGGCACAGATTCGTCAGCTTGCTGCTATGAGTGGTCTGATGGCGACGCAGGATGGCTTCatcatc                                                                                                                          >  1:67382/1‑149 (MQ=255)
                   aCCGTGACGGTCAGGAAGAGAAGCAGGTTTCCTTCAACAGCATCTACATGATGGCCGACTCCGGTGCGCGTGGTTCTGCGGCACAGATTCGTCAGCTTGCTGGTATGCGTGGTCTGATGGCGAAGCCGGATGGCTCCATCATCGAAACg                                                                                                                    <  1:322937/149‑1 (MQ=255)
                      gTGACGGTCAGGAAGAGAAGCAGGTTTCCTTCAACAGCATCTACATGATGGCCGACTCCGGTGCGCGTGGTTCTGCGGCACAGATTCGTCAGCTTGCTGGTATGCGTGGTCTGATGGCGAAGCCGGATGGCTCCATCATCGAAACGCCa                                                                                                                 <  1:289734/149‑1 (MQ=255)
                        taCGGTGACGAAGAGAAGCAGGGTCCCTGCAACAGTACTTACATGATGGCCGACTGCGGTGCGCGTGGTGCTGCGGCACAGATTCGTCAGCTTGATGGTATGCGTGGTCTGATGGCGAAGCCGGATGGCTCCATCATCGAAACGCCAAt                                                                                                               <  2:245377/148‑1 (MQ=255)
                            ggcAGGAAAAGAAGCAGGTTTCCTTCAACAGCATCTACATGATGGCCGACTCCGGTGCGCGTGGTTCTGCGGCACAGATTCGTCAGCTTGCTGGTATGCGTGGTCTGATGGCGAAGCCGGATGGCTCCATCATCGAAACGCCAATCAcc                                                                                                           <  1:545105/147‑1 (MQ=255)
                            gTCAGGAAGAGAAGCAGGTTTCCTTCAACAGCATCTACATGATGGCCGACTCCGGTGCGCGTGGTTCTGCGGCACAGATTCGTCAGCTTGCTGGTATGCGTGGTCTGATGGCGAGGCCGGATGGCTCCATCATCGAAACGCCAATCAcc                                                                                                           >  2:463454/1‑149 (MQ=255)
                              cAGGAGGAGAAGCAGGTTTCCTTCAACGGCATCTAGATGATGGCCGACTCCGGTGCGCGTGGTTCTGCGGCACAGATTCGTCAGCTTGCTGGTATGCGTGGTCTGATTGCGAAGCCGGATGGCTCCATCATCGAAACGCGAATCACcgc                                                                                                         <  2:622931/149‑1 (MQ=255)
                                 gAAGAGAAGCAGGTTTCCTTCAACAGCATCTACATGATGGCCGACTCCGGTGCGCGTGGTTCTGCGGCACAGATTCGTCAGCTTGCTGGTATGCGTGGTCTGATTGCGAAGCCGGATGGCTCCATCATCGAAACGCCAATCACCGCGaa                                                                                                      <  1:483986/149‑1 (MQ=255)
                                 gAAGAGAAGCAGGTTTCCTTCAACAGCATCTACATGATGGCCGACTCCGGTGCGCGTGGTTCTGCGGCACAGATTCGTCAGCTTGCTGGTATGCGTGGTCTGATTGCGAAGCCGGATGGCTCCATCATCGAAACGCCAATCACCGCGaa                                                                                                      <  1:332545/149‑1 (MQ=255)
                                 gAAGAGAAGCAGGTTTCCTTCAACAGCATCTACATGATGGCCGACTCCGGTGCGCGTGGTTCTGCGGCACAGATTCGTCAGCTTGCTGGTATGCGTGGTCTGATGGCGAAGCCGGATGGCTCCATCATCGAAACGCCAATCACcgcgga                                                                                                      >  1:66079/1‑147 (MQ=255)
                                         gCAGGTTTCCTTCAACAGCATCTACATGATGGCCGACTCCGGTGCGCGTGGTTCTGCGGCACAGATTCGTCAGCTTGCTGGTATGCGTGGTCTGATGGCGAAGCCGGATGGCTCCATCATCGAAACGCCAATCACCGCGAAATTCCGTg                                                                                              >  1:350050/1‑149 (MQ=255)
                                             gTTTCCTTCAACAGCATCTACATGATGGCCGACTCCGGTGCGCGTGGTTCTGCGGCACAGATTCGTCAGCTTGCTGGTATGCGTGGTCTGATGGCGACGTCGGGTGGCTCCATCATCGAAACGCCAATCACCGCGAAATTCCTTGAAgg                                                                                          >  1:507269/1‑149 (MQ=255)
                                               ttCCTTCAACAGCATCTACATGATGGCCGACTCCGGTGCGCGTGGTTCTGCGGCACAGATTCGTCAGCTTGCTGGTATGCGTGGTCTGATGGCGAAGCCGGATGGCTCCATCATCGAAACGCCAATCACCGCGAACTTCCGTGAAGGTc                                                                                        >  1:431747/1‑149 (MQ=255)
                                                   ttCAACAGCATCTACATGATGGCCGACTCCGGTGCGCGTGGTTCTGCGGCACAGATTCGTACACTTGCGGGTATGCGTGGTCTGATGGCGAAGCCGGATGGCTCCATCATCGAAACGCCAATCACCGCGAACTTCCGTGAAGGTCTGaa                                                                                    >  1:684471/1‑149 (MQ=255)
                                                       aCAGCATCTACATGATGGCCGACTCCGGTGCGCGTGGTTCTGCGGCACAGATTCGTCAGCTTGCTGGTATGCGTGGTCTGATGGTGAAGCCGGATGGCTCCATCATCGAAACGCCAATCACCGCGAACTTCCGTGAAGGTCTGAACGTa                                                                                <  1:603588/149‑1 (MQ=255)
                                                           cATCTACATGATGGCCGACTCCGGTGCGCGTGGTTCTGCGGCACAGATACGTCAGCTTGCTGGTATGCATGGTCTGATGACGAAGCCGGATGGCGCCATCATCAAACCGCCAATCACGACGACCTTCCGTGACGGTCTGAACGGACTcc                                                                            >  2:608635/1‑149 (MQ=255)
                                                                aCATGATGGCCGACTCCGGTGCGCGTGGTTCTGCGGCACAGATTCGTCAGCTTGCTGGTATGCGTGGTCTGATGGCGAAGCCGGATGGCTCCATCATCGAAACGCCAATCACCGCGAACTTCCGTGAAGGTCTGAACGTACTCCAGTAc                                                                       >  1:377397/1‑149 (MQ=255)
                                                                 cATGATGGCCGACTCCGGTGCGCGTGGTTCTGCGGCACAGATTCGTCAGCTTGCTGGTATGCGTGGTCTGATGGCGAAGCCGGATGGCTCCATCATCGAAACGCCAATCACCGCGAACTTCCGTGAAGGTCTGAACGTACTCCAGTACt                                                                      >  1:47083/1‑149 (MQ=255)
                                                                  atgatgGCCGACTCCGGTGCGCGTGGTTCTGCGGCACAGATTCGTCAGCTTGCTGGTATGCGTGGTCTGATGGCGAAGCCGGATGGCTCCATCATCGAAACGCCAATCACCGCGAACTTCCGTGAAGGTCTGAACGTACTCCAGTACtt                                                                     >  1:519689/1‑149 (MQ=255)
                                                                     agtgCCGGCTCCGGTGCGCGTGGTTCTGCGGCACAGATTCGTCAGCCTGCTGGTATGCGTGGTCTGATGGCGAAGCCGGATGGCTCCATCATCGAAACGCCAATCACCGCGAACTTCCGTGAAGGTCTGAACGTACTCCAGTACTTCAt                                                                  <  2:432478/146‑1 (MQ=255)
                                                                        gCCGACTCCGGTGCGCGTGGTTCTGCGGCACAGATTCGTCAGCTTGCTCGTATGCGTGGTCTGATGGCGAAGCCGGATGGCTCCATCATCGAAACGCCAATCACCGCGAACTTCCGTGAAGGTCTGAACGTACTCCAGTACTTCAtctc                                                               >  1:612115/1‑149 (MQ=255)
                                                                          cGACGCCGGGGCGCGTGGTTCTGTGGCAAAGACTCGTCAGCTTGCTGGTATGCCTGGTCTGATGGCGAAGCCGGATGGCTCCATCATCGAAACGCCAATCACCTCGAACTTCCGTGAAGGTCTGAACGTACTCCAGTACTTCATCTcca                                                             <  2:69049/149‑1 (MQ=255)
                                                                            aCTCCGGTGCGCGTGGTTCTGCGGCACAGATTCGTCAGCTTGCTGGTATGCATGGTCTGATGGCGAAGCCGGATGGCTCCATCATCGAAACGCCAATCACCGCGAACTTCCGTGAAGGTCTGCACGTACTCCAGTACTTCATCTccacc                                                           >  2:676093/1‑149 (MQ=255)
                                                                                 ggTGCGCGTGGTTCTGCGGCACAGATTCGTCAGCTTGCTGGTATGCGTGGTCTGATGGCGAAGCCGGATGGCTCCATCATCGAAACGCCAATCACCGCGAACTTCCGTGAAGGTCTGAACGTACCCCAGTACTTCATCTCCACCCACgg                                                      <  1:215905/149‑1 (MQ=255)
                                                                                   tGCGCGTGGTTCTGCGGCACAGATTCGTCAGCTTGCTGGTATGCGTGGACTGATTGCGAAGCCGGATGGCTCCATCATCGAAACGCCAATCACCGCGAACTTCCGTGAAGGTCTGAACGTACTCCAGTACTTCATCTCCACCCACGGTg                                                    >  1:612200/1‑149 (MQ=255)
                                                                                      gcgTGGTTCCGCGGCACAGATGCGTCAGCTTGCTGGTATGCGTGGTCTGATGGCGAAGCCGGATGGCTCCATCATCGAAACGCCAATCACCGCGAACTTCCGTGAAGGTCTGAACGTACTCCAGTACTTCATCTCCACCCACGGTGCTc                                                 <  1:173836/149‑1 (MQ=255)
                                                                                        gTGGTTCTGCGGCACATATTCGTAAGCTTGCTAGTATGCTTGGTCTGATTGCGACGCCGGATGGCTCCCTCATCCAAACGCCAATCACCGCGAACTTCAGTGAAGGGCTGAACGTACTCCAGTACTTCATCTCCACCCACGGTGCTCGt                                               >  2:255477/1‑149 (MQ=255)
                                                                                                   gCACAGATTCGTCAGCTTGCTGGTATGCGTGGTCTGATGGCGAAGCCGGATGGCTCCATCATCGAAACGCCAATCACCGCGAACTTCCGTGAAGGTCTGAACGTACTCCAGTACTTCATCTCCACCCACGGTGCTCGTAAAGGTCTGGc                                    <  1:391259/149‑1 (MQ=255)
                                                                                                       aGATTCGTCAGCTTGCTGGTATGCGTGGTCTGATGGCGAAGCCGGATGGCTCCATCATCGAAACGCCAATCACCGCGAACTTCCGTGAAGGTCTGAACGTACTCCAGTACTTCATCTCCACCCACGGTGCTCGTAAAGGTCTGGCGGAt                                <  1:664844/149‑1 (MQ=255)
                                                                                                             gTCAGCTTGCTGGTATGCGTGGTCTGATGGCGAAGCCGGGTGGCTCCATCATCGAAACGCCAATCCCCGCGAACTTCCGTGAAGGTCTGAACGTACTCAAGTACTTCATCTCCACCCACGGTGCTCGTAAAGGTCTGGCGGATACCGCa                          >  2:476740/1‑149 (MQ=255)
                                                                                                              tCAGCTTGCTGGTATGCGTGGTCTGATTGCGAAGCCGGATGGCTCCATCATCGAAACGCCAATCACCGCGAACTTCCGTGAAGGTCTGAACGTACTCCAGTACTTCAACACCACCCACGGTGCTCGTAAAGGTCTGGCGGATACCGCag                         >  1:433749/1‑148 (MQ=255)
                                                                                                              tCAGCTTGCTGGTATGCGTGGTCTGATGGCGAAGCCGGATGGCTCCATCATCGAAACGCCAATCACCGCGAACTTCCGTGAAGGTCTGAACGTACTCCAGTACTTCATCTCCACCCACGGTGCTCGTAAAGGTCTGGCGGATACCGCAc                         >  1:88344/1‑149 (MQ=255)
                                                                                                              tCAGCTTGCTGGTATGCGTGGTCTGATGGCGAAGCCGGATGGCTCCATCATCGAAACGCCAATCACCGCGAACTTCCGTGAAGGTCTGAACGTACTCCAGTACTTCATCTCCACCCACGGTGCTCGTAAAGGTCGGGCGGATACCGCAc                         >  1:611670/1‑149 (MQ=255)
                                                                                                                  cTTGCTGGTATGCGTGGTCTGATGGCGAAGCCGGATGGCCCCATCATCGAAACGCCAATCACCGCGAACTTCCGTGAAGGTCTGAACGTACTCCAGTACTTCATCTCCACCCACGGTGCTCGTAAAGGTCTGGCGGATACCGCACTGaa                     >  2:640377/1‑149 (MQ=255)
                                                                                                                           aTGCGTGGTCTGATTGCGAAGCCGGATGGCTCCATCATCGAAACGCCAATCACCGCGAACTTCCGTGAAGGTCTGAACGTACTCCAGTACTTCATCTCCACCCACGGTGCTCGTAAAGGTCTGGCGGATACCGCACTGAAAACTGCGaa            <  2:413758/149‑1 (MQ=255)
                                                                                                                              cggggTCTGACGGCGAAGCCGGATGGCTCCATCATCGAAACGCCAATCACCGCGAACTTCCGTGAAGGTCTGAACGTACTCCAGTACTTCATCTCCCCCCACGGTGCTCGTAAAGGTCTGGCGGATACCGCACTGAAAACTGCGAACTc         <  2:98585/146‑1 (MQ=255)
                                                                                                                               gTGGTCTGATGGCGAAGCCGGATGGCTCCATCATCGAAACGCCCATCACCGCGAACTTCCGGGCAGGTCTGAACGTACTCCAGTACTTCATCTACACCCACGGTGCTCGTAAAGCTCTGCCGGAGACCGCCCTGAAAACTGCAAACttc        >  2:441655/1‑147 (MQ=255)
                                                                                                                                tGGTCTGATGGCGAAGCCGGATGGCTCCATCATCGAAACGCCAATCACCGCGAACTTCCGTGAAGGTCTGAACGTACTCCAGTACTTCATCTCCACCCACGGTGCTCGTAAAGGTCTGGCGGATACCGCACTGAAAACTGCGAACTCCg       <  1:229323/149‑1 (MQ=255)
                                                                                                                                 ggacTGATTGCGAAGCCGGATGGCTCCATCATCGAAACGCCAATCACCGCGAACTTCCGTGAAGGTCTGAACGTACTCCAGTACTTCATCTCCACCCACGGTGCTCGTAAAGGTCTGGCGGATACCGCACTGAAAACTGCGAACTCCgg      <  2:358707/146‑1 (MQ=255)
                                                                                                                                  gTCTGATGGCGAAGCCGGATGGCTCCATCATCGAAACGCCAATCACCGAGAACTTCCGTGAAGGTCTGAACGTACTCCAGTACTTCATCTCCGCCCCCGGTGCTCTGAAGGGTGTGGAGGATACCGCACGGGAAACTGCCACATCCGGt     >  1:92847/1‑149 (MQ=255)
                                                                                                                                     ggATTGCGAAGCCGGATGGCTCCATCATCGAAACGCCAATCACCGCGAACTTCCGTGAAGGTCTGAACGTACTCCAGTACTTCATCTCCACCCACGGTGCTCGTAAAGGTCTGGCGGATACCGCACTGAAAACTGCGAACTCCGGTTAc  <  2:612200/148‑1 (MQ=255)
                                                                                                                                     cgATGGCGGAGCCGGATGGCTCTATCATCGTAACGGCAATCACCGCTAACTTCGGTGAAGGTCTGAACGTACTCCAGTACTTCATCTCCACCCACGGTGCCCGTAAAGGTCTGGCGGATACCGCACTGAAAACTGCGAACTCCGGTTAc  <  2:591167/148‑1 (MQ=255)
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CAAACTGAAACCGTGATTAACCGTGACGGTCAGGAAGAGAAGCAGGTTTCCTTCAACAGCATCTACATGATGGCCGACTCCGGTGCGCGTGGTTCTGCGGCACAGATTCGTCAGCTTGCTGGTATGCGTGGTCTGATGGCGAAGCCGGATGGCTCCATCATCGAAACGCCAATCACCGCGAACTTCCGTGAAGGTCTGAACGTACTCCAGTACTTCATCTCCACCCACGGTGCTCGTAAAGGTCTGGCGGATACCGCACTGAAAACTGCGAACTCCGGTTAC  >  NC_000913_3_hsa_tpiA/4187435‑4187716

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: ‑