Predicted mutation
evidence seq id position mutation freq annotation gene description
RA NC_000913_3_hsa_tpiA 2,556,734 G→A 8.3% G188G (GGC→GGT)  eutC ← ethanolamine ammonia‑lyase, small subunit (light chain)

Read alignment evidence...
  seq id position ref new freq score (cons/poly) reads annotation genes product
*NC_000913_3_hsa_tpiA2,556,7340GA 8.3% 139.2 / 4.7 48G188G (GGC→GGT) eutCethanolamine ammonia‑lyase, small subunit (light chain)
Reads supporting (aligned to +/- strand):  ref base G (22/22);  new base A (2/2);  total (24/24)
Fisher's exact test for biased strand distribution p-value = 1.00e+00
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 3.35e-01

TTCTGACTGACCCAACCCCGGACGTTCGCCCACCAGCAGGATCACTACTTTCGCGCCGAGGATCTCACCGATCTGATCTTCAATCTTCACGCGACCATAACGAACAAAGAATGGTGTACCGACTTTCAGCCCGGCCTGTTTCAGGCCCGCCATCAGCGGTGGCAGGATCTCTTCGTAGTTCACGGTGATCGCATCAGTTGACAGGCCATCAGAAATAACGACCTGTACGTCCGGATTGGCAACACACTGCGCTTTCAGCGCTTCAACAGCTTCTGCACACAGGCGGCGG  >  NC_000913_3_hsa_tpiA/2556590‑2556878
                                                                                                                                                |                                                                                                                                                
ttCTGACTGACCCAACCCCGGACGTTCGCCCACCAGCAGGATCACTACTTTCGCGCCGAGGATCTCACCGATCTGATCTTCAATCTTCACGCGACCATAACGAACAAAGAATGGTGTACCGACTTTCAGCCCGGCCTGTTTCAGGCCCGc                                                                                                                                             >  3:82785/1‑150 (MQ=255)
ttCTGACTGACCCAACCCCGGACGTTCGCCCACCAGCAGGATCACTACTTTCGCGCCGAGGATCTCACCGATCTGATCTTCAATCTTCACGCGACCATAACGAACAAAGAATGGTGTACCGACTTTCAGCCCGGCCTGTTTCAGACCCGc                                                                                                                                             >  2:60326/1‑150 (MQ=255)
ttCTGACTGACCCAACCCCGGACGTTCGCCCACCAGCAGGATCACTACTTTCGCGCCGAGGATCTCACCGATCTGATCTTCAATCTTCACGCGACCATAACGAACAAAGAATGGTGTACCGACTTTCAGCCCGGCCTGTTTCAGACCCGc                                                                                                                                             >  2:60327/1‑150 (MQ=255)
  ctgactgaCCCAACCCCGGACGTTCGCCCACCAGCAGGATCACTACTTTCGCGCCGAGGATCTCACCGATCTGATCTTCAATCTTCACGCGACCATAACGAACAAAGAATGGTGTACCGACTTTCAGCCCGGCCTGTTTCAGGCCCGCCa                                                                                                                                           <  3:305609/150‑1 (MQ=255)
  ctgactgaCCCAACCCCGGACGTTCGCCCACCAGCAGGATCACTACTTTCGCGCCGAGGATCTCACCGATCTGATCTTCAATCTTCACGCGACCATAACGAACAAAGAATGGTGTACCGACTTTCAGCCCGGCCTGTTTCAGGCCCGCCa                                                                                                                                           <  3:76398/150‑1 (MQ=255)
       tgacCCAACCCCGGACGTTCGCCCACCAGCAGGATCACTACTTTCGCGCCGAGGATCTCACCGATCTGATCTTCAATCTTCACGCGACCATAACGAACAAAGAATGGTGTACCGACTTTCAGCCCGGCCTGTTTCAGGCCCGCCATCAGc                                                                                                                                      <  2:169630/150‑1 (MQ=255)
       tgacCCAACCCCGGACGTTCGCCCACCAGCAGGATCACTACTTTCGCGCCGAGGATCTCACCGATCTGATCTTCAATCTTCACGCGACCATAACGAACAAAGAATGGTGTACCGACTTTCAGCCCGGCCTGTTTCAGGCCCGCCATCAGc                                                                                                                                      >  4:334631/1‑150 (MQ=255)
         acCCAACCCCGGACGTTCGCCCACCAGCAGGATCACTACTTTCGCGCCGAGGATCTCACCGATCTGATCTTCAATCTTCACGCGACCATAACGAACAAAGAATGGTGTACCGACTTTCAGCCCGGCCTGTTTCAGGCCCGCCATCAGCgg                                                                                                                                    <  3:144355/150‑1 (MQ=255)
                 ccGGACGTTCGCCCACCAGCAGGATCACTACTTTCGCGCCGAGGATCTCACCGATCTGATCTTCAATCTTCACGCGACCATAACGAACAAAGAATGGTGTACCGACTTTCAGCCCGGCCGGTTTCAGGCCCGCCATCAGCGGTGGCAggg                                                                                                                            >  4:266827/1‑149 (MQ=255)
                  cGGACGTTCGCCCACCAGCAGGATCACTACTTTCGCGCCGAGGATCTCACCGATCTGATCTTCAATCTTCACGCGACCATAACGAACAAAGAATGGTGTACCGACTTTCAGCCCGGCCTGTTTCAGGCCCGCCATCAGCGGTGGCAGGAt                                                                                                                           <  3:66634/150‑1 (MQ=255)
                      cGTTCGCCCACCAGCAGGATCACTACTTTCGCGCCGAGGATCTCACCGATCTGATCTTCAATCTTCACGCGACCATAACGAACAAAGAATGGTGTACCGACTTTCAGCCCGGCCTGTTTCAGGCCCGCCATCAGCGGTGGCAGGATctct                                                                                                                       <  4:216990/150‑1 (MQ=255)
                            cccACCAGCAGGATCACTACTTTCGCGCCGAGGATCTCACCGATCTGATCTTCAATCTTCACGCGACCATAACGAACAAAGAATGGTGTACCGACTTTCAGCCCGGCCTGTTTCAGGCCCGCCATCAGCGGTGGCAGGATATCTTCGTAg                                                                                                                 >  2:144628/1‑150 (MQ=255)
                              caccaGCAGGATCACTACTTTCGCGCCGAGGATCTCACCGATCTGATCTTCAATCTTCACGCGACCATAACGAACAAAGAATGGTGTACCGACTTTCAGCCCGGCCTGTTTCAGGCCCGCCATCAGCGGTGGCAGGATCTCTTCgttgtt                                                                                                               >  1:160/1‑150 (MQ=255)
                                  agcagGATCACTACTTTCGCGCCGAGGATCTCACCGATCTGATCTTCAATCTTCACGCGACCATAACGAACAAAGAATGGTGTACCGACTTTCAGCCCGGCCTGTTTCAGGCCCGCCATCAGCGGTGGCAGGATCTCTTCGTAGTTCACg                                                                                                           <  2:486085/150‑1 (MQ=255)
                                      ggATCACTACTTTCGCGCCGAGGATCTCACCGATCTGATCTTCAATCTTCACGCGACCATAACGAACAAAGAATGGTGTACCGACTTTCAGCCCGGCCTGTTTCAGGCCCGCCATCAGCGGTGGCAGGATCTCTGCGTAGTTCACGGTGa                                                                                                       <  4:256693/150‑1 (MQ=255)
                                            ctactTTCGCGCCGAGGATCTCACCGATCTGATCTTCAATCTTCACGCGACCATAACGAACAAAGAATGGTGTACCGACTTTCAGCCCGGCCTGTTTCAGGCCCGCCATCAGCGGTGGCAGGATCTCTTCGTAGTTCACGGTGATCGCAt                                                                                                 <  3:136434/150‑1 (MQ=255)
                                                   cgcgCCGAGGATCTCACCGATCTGATCTTCAATCTTCCCGCGACCATAACGAACAAAGAATGGTGTACCGACTTTCAGCCCGGCCTGTTTCAGGCCCGCCATCAGCGGTGGCAGGATCTCTTCGTAGTTCACGGTGATCGCATCAGTTGa                                                                                          <  1:289864/150‑1 (MQ=255)
                                                   cgcgCCGAGGATCTCACCGATCTGATCTTCAATCTTCACGCGACCATAACGAACAAAGAATGGTGTACCGACTTTCAGCCCGGCCTGTTTCAGGCCCGCCATCAGCGGTGGCAGGATCTCTTCGTAGTTCACGGTGATCGCATCAGTTGa                                                                                          <  1:452864/150‑1 (MQ=255)
                                                       ccGAGGATCTCACCGATCTGATCTTCAATCTTCACGCGACCATAACGAACAAAGAATGGTGTACCGACTTTCAGCCCGGCCTGTTTCAGGCCCGCCATCAGCGGGGGCAGGATCTCTCCGTAGTTCACGGTGATCGCATCAGTTGACAgg                                                                                      >  2:300613/1‑150 (MQ=255)
                                                           ggATCTCACCGATCTGATCTTCAATCTTCACGCGACCATAACGAACAAAGAATGGTGTACCGACTTTCAGCCCGGCCTGTTTCAGGCCCGCCATCAGCGGTGGCAGGATCTCTTCGTAGTTCACGGTGATCGCATCAGTTGACAGGCCAt                                                                                  <  1:120614/150‑1 (MQ=255)
                                                                  aCCGATCTGATCTTCAATCTTCACGCGACCATAACGAACAAAGAATGGTGTACCGACTTTCAGCCCGGCCTGTTTCAGGCCCGCCATCAGCGGTGGCAGGATCTCTTCGTAGTTCACGGTGATCGCATCAGTTGACAGGCCATCAGAAAt                                                                           <  3:359862/150‑1 (MQ=255)
                                                                   ccGATCTGATCTTCAATCTTCACGCGACCATAACGAACAAAGAATGGTGTACCGACTTTCAGCCCGGCCTGTTTCAGGCCCGCCATCAGCGGTGGCAGGATCTCTTCGTAGTTCACGGTGATCGCATCAGTTGACAGGCCATCAGAAATa                                                                          >  2:290797/1‑150 (MQ=255)
                                                                         tgatctTCAATCTTCACGCGACCATAACGAACAAAGAATGGTGTACCGACTTTCAGCCCGGCCTGTTTCAGGCCCGCCATCAGCGGTGGCAGGATCTCTTCGTAGTTCACGGTGATCGCATCAGTTGACAGGCCATCAGAAATAACGAcc                                                                    >  1:419165/1‑150 (MQ=255)
                                                                           atcttcaatcttcaCGCGACCATAACGAACAAAGAATGGTGTACCGACTTTCAGCCCGGCCTGTTTCAGGCCCGCCATCAGCGGTGGCAGGATCTCTTCGTAGTTCACGGTGATCGCATCAGTTGACAGGCCATCAGAAATAACGACCTg                                                                  >  1:495098/1‑150 (MQ=255)
                                                                                     ttcaCGCGACCATAACGAACAAAGAATGGTGTACCGACTTTCAGCCCGGCCTGTTTCAGGCCCGCCATCAGCGGTGGCAGGATCTCTTCGTAGTTCACGGTGATCGCATCAGTTGACAGGCCATCAGAAATAACGACCTGTACGTCCGGa                                                        >  4:211820/1‑150 (MQ=255)
                                                                                     ttcaCGCGACCATAACGAACAAAGAATGGTGTACCGACTTTCAGCCCGGCCTGTTTCAGGCCCGCCATCAGCGGTGGCAGGATCTCTTCGTAGTTCACGGTGATCGCATCAGTTGACAGGCCATCAGAAATAACGACCTGTACGTCCGGa                                                        <  2:186983/150‑1 (MQ=255)
                                                                                      tcaCGCGACCATAACGAACAAAGAATGGTGTACCGACTTTCAGCCCGGCCTGTTTCAGGCCCGCCATCAGCGGTGGCAGGATCTCTTCGTAGTTCACGGTGATCGCATCAGTTGACAGGCCATCAGAAATAACGACCTGTACGTCCGGAt                                                       <  1:470254/150‑1 (MQ=255)
                                                                                          gcgACCATAACGAACAAAGAATGGTGTACCGACTTTCAGCCCGGCCTGTTTCAGACCCGCCATCAGCGGTGGCAGGATCTCTTCGTAGTTCACGGTGATCGCATCAGTTGACAGGCCATCAGAAATAACGACCTGTACGTCCGGATTGGc                                                   <  1:60327/150‑1 (MQ=255)
                                                                                          gcgACCATAACGAACAAAGAATGGTGTACCGACTTTCAGCCCGGCCTGTTTCAGACCCGCCATCAGCGGTGGCAGGATCTCTTCGTAGTTCACGGTGATCGCATCAGTTGACAGGCCATCAGAAATAACGACCTGTACGTCCGGATTGGc                                                   <  1:60326/150‑1 (MQ=255)
                                                                                              ccATAACGAACAAAGAATGGTGTACCGACTTTCAGCCCGGCCTGTTTCAGGCCCGCCATCAGCGGTGGCAGGATCTCTTCGTAGTTCACGGTGATCGCATCAGTTGACAGGCCATCAGAAATAACGACCTGTACGTCCGGATTGGCAaca                                               >  3:255105/1‑150 (MQ=255)
                                                                                              ccATAACGAACAAAGAATGGTGTACCGACTTTCAGCCCGGCCTGTTTCAGGCCCGCCATCAGCGGTGGCAGGATCTCTTCGTAGTTCACGGTGATCGCATCAGTTGACAGGCCATCAGAAATAACGACCTGTACGTCCGGATTGGCAaca                                               <  1:111336/150‑1 (MQ=255)
                                                                                              ccATAACGAACAAAGAATGGTGTACCGACTTTCAGCCCGGCCTGTTTCAGGCCCGCCATCAGCGGTGGCAGGATCTCTTCGTAGTTCACGGTGATCGCATCAGTTGACAGGCCATCAGAAATAACGACCTGTACGTCCGGATTGGCAaca                                               >  3:63759/1‑150 (MQ=255)
                                                                                                 gaaCGACCAAAGAATGGTGTACCGACTTTCAGCCCGGCCTGTTTCAGGCCCGCCATCAGCGGTGGCAGGATCTCTTCGTAGTTCACGGTGATCGCATCAGTTAACAGGCCATCAGAAATAACGACCTGTACGTCCGGATTGGCAacacac                                            <  2:360400/149‑1 (MQ=255)
                                                                                                     gAACAAAGAATGGTGTACCGACTTTCAGCCCGGCCTGTTTCAGGCCCGCCATCAGCGGTGGCAGGATCTCTTCGTAGTTCACGGTGATCGCATCAGTTGACAGGCCATCAGAAATAACGACCTGTACGTCCGGATTGGCAACACACTgcg                                        >  1:508322/1‑150 (MQ=255)
                                                                                                         aaaGAATGGTGTACCGACTTTCAGCCCGGCCTGTTTCAGGCCCGCCATCAGCGGTGGCAGGATCTCTTCGTAGTTCACGGTGATCGCATCAGTTGACAGGCCATCAGAAATAACGACCTGTACGTCCGGATTGGCAACACACTGCGCttt                                    <  4:79962/150‑1 (MQ=255)
                                                                                                           aGAATGGTGTACCGACTTTCAGCCCGGCCTGTTTCAGGCCCGCCATCAGCGGTGGCAGGATCTCTTCGTAGTTCACGGTGATCGCATCAGTTGACAGGCCATCAGAAATAACGACCTGTACGTCCGGATTGGCAACACACTGCGCTTTCa                                  <  3:334631/150‑1 (MQ=255)
                                                                                                                       cGACTTTCAGCCCGGCCTGTTTCAGGCCCGCCATCAGCGGTGGCAGGATCTCTTCGTAGTTCACGGTGATCGCATCAGTTGACAGGCCATCAGAAATAACGACCTGTACGTCCGGATTGGCAACACACTGCGCTTTCAGCGCTTCAACAg                      >  1:64624/1‑150 (MQ=255)
                                                                                                                          cTTTCAGCCCGGCCTGTTTCAGGCCCGCCATCAGCGGTGGCAGGATCTCTTCGTAGTTCACGGTGATCGCATCAGTTGACAGGCCATCAGAAATAACGACCTGTACGTCCGGATTGGCAACACACTGCGCTTTCAGCGCTTCAACAGCtt                   <  2:242413/150‑1 (MQ=255)
                                                                                                                           tttCAGCCCGGCCTGTTTCAGGCCCGCCATCAGCGGTGGCAGGATCTCTTCGTAGTTCACGGTGATCGCATCAGTTGACAGGCCATCAGAAATAACGACCTGTACGTCCGGATTGGCAACACACTGCGCTTTCAGCGCTTCAACAGCTTc                  >  1:387121/1‑150 (MQ=255)
                                                                                                                                 cccGTCCTGTTTCAGGCCCGCCATCAGCGTTGGCAGGATCTCTTCGTAGTTCACGGTGATCGCATCGGTTGACAGGCCATCAGAAATAACGACCTGTACGTCCGGATTGGCAACACACTGCGCTTTCAGCGCTTCAACAGCTTCTGcaca            <  4:70744/150‑1 (MQ=255)
                                                                                                                                    ggCCTGTTTCAGGCCCGCCATCAGCGGTGGCAGGATCTCTGCGTAGTTCACGGTGATCGCATCAGTTGACAGGCCATCAGAAATAACGACCTGTACGTCCGGATTGGCAACACACTGCGCTTTCAGCGCTTCAACAGCTTCTGCACCCAg         >  2:365250/1‑150 (MQ=255)
                                                                                                                                     gCCTGTTTCAGGCCCGCCATCAGCGGTGGCAGGATCTCTTCGTAGTTCACGGTGATCGCATCAGTTGACAGGCCATCAGAAATAACGACCTGTACGTCCGGATTGGCAACACACTGCGCTTTCAGCGCTTCAACAGCTTCTGcacacacg        >  4:62629/1‑148 (MQ=255)
                                                                                                                                     gCCTGTTTCAGGCCCGCCATCAGCGGTGGCAGGATCTCTTCGTAGTTCACGGTGATCGCATCAGTTGACAGGCCATCAGAAATAACGACCTGTACGTCCGGATTGGCAACACACTGCGCTTTCAGCGCTTCAACAGCTTCTGCACACAgg        >  3:100617/1‑150 (MQ=255)
                                                                                                                                     gCCTGTTTCAGGCCCGCCATCAGCGGTGGCAGGATCTCTTCGTAGTTCACGGTGATCGCATCAGTTGACAGGCCATCAGAAATAACGACCTGTACGTCCGGATTGGCAACACACTGCGCTTTCAGCGCTTCAACAGCTTCTGCACACAgg        >  2:508784/1‑150 (MQ=255)
                                                                                                                                        tGTTTCAGGCCCGCCATCAGCGGTGGCAGGATCTCTTCGTAGTTCACGGTGATCGCATCAGTTGACAGGCCATCAGAAATAACGACCTGTACGTCCGGATTGGCAACACACTGCGCTTTCAGCGCTTCAACAGCTTCTGCACACAggcgg     >  2:529521/1‑150 (MQ=255)
                                                                                                                                        tGTTTCAGGCCCGCCATCAGCGGTGGCAGGATCTCTTCGTAGTTCACGGTGATCGCATCAGTTGACAGGCCATCAGAAATAACGACCTGTACGTCCGGATTGGCAACACACTGCGCTTTCAGCGCTTCAACAGCTTCTGCACACAggcgg     >  2:500872/1‑150 (MQ=255)
                                                                                                                                          tttCAGGCCCGCCATCAGCGGTGGCAGGATCTCTTCGTAGTTCACGGTGATCGCAGCAGTTGACAGGCCCTCAGAAAAAACGACCTGTACGTCCGGATTGGCAAAACACTGCGCTTTCAGCGCTTCAACAGCTTCTGCACACAggcggcg   >  4:332657/1‑150 (MQ=255)
                                                                                                                                           gtCACGCCCGCCACCGCGGGTGGCAGGAGCTCTTCGTAGTTCACGGTGATCGCATCAGTTGACAGGACATGAGAAATAACGACCTGTACGTCCGGAGTGGCAACATCCTGCGCTTTCAGCGCGTCAACCGCTTCTGCTCACAggcggcgg  <  4:329976/149‑1 (MQ=255)
                                                                                                                                                |                                                                                                                                                
TTCTGACTGACCCAACCCCGGACGTTCGCCCACCAGCAGGATCACTACTTTCGCGCCGAGGATCTCACCGATCTGATCTTCAATCTTCACGCGACCATAACGAACAAAGAATGGTGTACCGACTTTCAGCCCGGCCTGTTTCAGGCCCGCCATCAGCGGTGGCAGGATCTCTTCGTAGTTCACGGTGATCGCATCAGTTGACAGGCCATCAGAAATAACGACCTGTACGTCCGGATTGGCAACACACTGCGCTTTCAGCGCTTCAACAGCTTCTGCACACAGGCGGCGG  >  NC_000913_3_hsa_tpiA/2556590‑2556878

Alignment Legend
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 22 ≤ ATCG/ATCG < 37 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG
Unaligned base: atcg    Masked matching base: atcg    Alignment gap: ‑    Deleted base: ‑