Predicted mutation
evidence seq id position mutation freq annotation gene description
JC NC_000913_3_hsa_tpiA 1,157,972 Δ60 bp 6.4% coding (104‑163/1434 nt) ptsG → fused glucose‑specific PTS enzymes: IIB component/IIC component

New junction evidence
  seq id position reads (cov) reads (cov) score skew freq annotation gene product
* ? NC_000913_3_hsa_tpiA = 115797145 (1.010)3 (0.070) 3/258 NT 6.4% coding (103/1434 nt) ptsG fused glucose‑specific PTS enzymes: IIB component/IIC component
?NC_000913_3_hsa_tpiA 1158032 = 45 (1.070)coding (164/1434 nt) ptsG fused glucose‑specific PTS enzymes: IIB component/IIC component

TGAGAACGTAAAAAAAGCACCCATACTCAGGAGCACTCTCAATTATGTTTAAGAATGCATTTGCTAACCTGCAAAAGGTCGGTAAATCGCTGATGCTGCCGGTATCCGTACTGCCTATCGCAGGTATTCTGCTGGGCGTCGGTTCCGCGAATTTCAGCTGGCTGCCCGCCGTTGTATCGCATGTTATGGCAGAAGCAGGCGGTTCCGTCTTTGCAAACATGCCACTGATTTTTGCGATCGGTGTCGCCCTCGGCTTTACCAATAACGATGGCGTATCCGCGCTGGCCGCAGTTGT  >  NC_000913_3_hsa_tpiA/1157825‑1158119
                                                                                                                                                  |                                                                                                                                                    
tGAGAACGTAAAAAAAGCACCCATACTCAGGAGCACTCTCAATTATGTTTAAGAATGCATTTGCTAACCTGCAAAAGGTCGGTAAATCGCTGATGCTGCCGGTATCCGTACTGCCTATCGCAGGTATTCTGCTGGGCGTCGGTTCcgcg                                                                                                                                                    >  2:80722/1‑149 (MQ=255)
         aaaaaaaGCACCCATACCCAGGAGCACTTTCAATTATGTTTAAGAATGCATTTGCTAACCTGCAAACGGTCGGTAAATCGCGGAGGCTGCCGGTATCCGTACTGCCTATCGCAGGTATTCTGCTGGGCGTCGGTTCCGCGAATTTCAgc                                                                                                                                           <  2:510442/149‑1 (MQ=255)
          aaaaaaGCACCCATACTCAGGAGCACTCTCAATTATGTTTAAGAATGCATTTGCTAACCTGCAAAAGGTCGGTAAATCGCTGATGCTGCCGGTATCCGTACTGCCTATCGCAGGTATTCTGATGAGCGTCGCTTCCGCGAAGTTCCgct                                                                                                                                          >  2:485656/1‑149 (MQ=255)
          aaaaaaGCACCCATACTCAGGAACACTCTCAATCATCTTCAAGAATGCATTTGCTAACCTGCAAAAGGTCGGTAAATCGCTGATGCTGCCGGTATCCGTACTGCCTCTCGCAGCTATTCTGCTGGGCGTCGGTTCCGCGAATTTCAgct                                                                                                                                          >  2:424598/1‑149 (MQ=255)
              aaGCACCCATACTCAGGAGCACTCTCAATTATGTTTAAGAATGCATTTGCTAACCTGCAAAAGGTCGGTAAATCGCTGATGCTGCCGGTATCCGTACTGCCTATCGCAGGTATTCTGCTGGGCGTCGGTTCCGCGAATTTCAgctggct                                                                                                                                      >  2:792479/1‑149 (MQ=255)
                    ccATACTCAGGAGCACTCTCAATTATGTTTAAGAATGCATTTGCTAACCTGCAAAAGGTCGGTAAATCGCTGATGCTGCCGGTATCCGTACTGCCTCTGGCAGGTATTCTGCTGGGCGTCGGTTCCGCGAATTTCAGCTGGCTGCccgc                                                                                                                                >  1:24257/1‑149 (MQ=255)
                      aTACTCAGGAGCACTCTCAATTATGTTTAAGAATGCATTTGCTAACCTGCAAAAGGTCGGTAAATCGCTGATGCTGCCGGTATCCGTACTGCCTATCGCAGGTATTCTGCTGGGCGTCGGTTCCGCGAATTTCAGCTGGCTgccggccg                                                                                                                              >  1:642241/1‑149 (MQ=255)
                      aTACTCAGGAGCACTCTCAATTATGTTTAAGAATGCATTTGCTAACCTGCAAAAGGTCGGTAAATCGCTGATGCTGCCGGTATCCGTACTGCCTATCGCAGGTATTCTGCTGGGCGTCGGTTCCGCGAATTTCAGCTGGCTGCccgccg                                                                                                                              >  1:247666/1‑149 (MQ=255)
                          tCAGGAGCACTCTCAATTATGTTTAAGAATGCATTTGCTAACCTGCAAAAGGTCGGTAAATCGCTGATGCTGCCGGTATCCGTACTGCCTATCGCAGGTATTCTGCTGGGCGTCGGTTCCGtctttgcaaacatgccactgatttttgc                                                                                                                          >  1:481544‑M1/1‑121 (MQ=255)
                             ggAGCACTCTCAATTATGTTTAAGAATGCATTTGCTAACCTGCAAAAGGTCGGTAAATCGCTGATGCTGCCGGTATCCGTACTGCCTATCGCAGGTATTCTGCTGGGCGTCGGTTCCGCGAATTTCAGCTGGCTGCCCGCCGTTGTATc                                                                                                                       <  1:768762/149‑1 (MQ=255)
                                 cACTCTCAATTATGTTTAAGAATGCATTTGCTAACCTGCAAAAGGTCGGTAAATCGCTGATGCTGCCGGTATCCGTACTGCCTATCGCAGGTATTCTGCTGGGCGTCGGTTCCGCGAATTTCAGCTGGCTGCCCGCCGTTGTATCGCAt                                                                                                                   >  2:711893/1‑149 (MQ=255)
                                   ctttcaatTATGTTTAAGAATGCATTGGCTAACCTGCAAAAGGTCGGTAAATCGCTGATGCTGCGGGTATCCGTACTGCCTATCGCAGGTATTCTGCTGGGCGTCGGTTCCGtctttgcaaacatgccactgatttttgcgatcggtgt                                                                                                                 <  2:672891‑M1/146‑38 (MQ=255)
                                    tctcAATTATGTTTAAGAATGCATTTGCTAACCTGCAAACGGTCGGTAAATCGCTGATGCTGCCGGTATCCGTACTGCCTATCGCAGGTGTTCTGCTGGGCGTCGGTTCCGCGAATTTCAGCTGGCTGCCCGCCGTTGTATGGCATAtt                                                                                                                >  2:239419/1‑149 (MQ=255)
                                    tctcAATTATGTTTAAGAATGCATTTGCTAACCTGCAAAAGGTCGGTAAATCGCTGATGCTCCCGGTATCCGTACTGCCTATCGCAGGTATTCTGATGGGCGTCGGTGCCGCGAATTTCAGCTGGCTGCCCGCCGTTGTCTCGCATGtt                                                                                                                >  2:836709/1‑149 (MQ=255)
                                    actcAATTATGTTTCAGAATGCATTTGCTAAACTGCAAAAGGTCGGTAAATCGCTGATGGTGCCGGTATCCGTACTTCCTATCGCAAGTATTCTGCTTGGAGACGGTTACTAGAATTTCAGCTGACTGCCCGCAATTCAATCGCATGtc                                                                                                                >  2:594866/2‑148 (MQ=255)
                                         aTTATGTTTAAGAATGCATTTGCTAACCTGCAAAAGGTCGGTAAATCGCTGATGCTGCCGGTATCCGTACTGCCTATCGCAGGTATTCTGCTGGGCGTCGGTTCCGCGAATTTCAGCTGGCTGCCCGCCGTTGTATCGCATGTTATGGc                                                                                                           >  1:800747/1‑149 (MQ=255)
                                              gTTTAAGAATGCATTTGCTAACCTGCAAAAGGTCGGTAAATCGCTGATGCTGCCGGTATCCGTACTGCCTATCGCAGGTATTCTGCTGGGCGTCGGTTCCGCGACTTTCAGCTGGCTGCCCGCCGTTGTATCCCCTGTTATGGCCGagg                                                                                                      >  2:470377/1‑147 (MQ=255)
                                                ggaaGAACGCGTTCGCTAACCTGTAAAAGCTCAGTAAATCGCTGATGCTGCCGGTATCCTTACTGCCTATCTCATGGATTCTGCTGTGCGTCGGTTCCGCTAATTTCAGCTGGCTGCCCGCCGTTGTATCGCATGTCACGGCAGAAGCa                                                                                                    <  2:472535/147‑1 (MQ=255)
                                                   aGAATGCATTTGCTAACCTGCAAAAGGTCGGTAAATCGCTGATGCTGCCGGTATCCGTACTGCCTATCGCAGGTATTCTGCTGGGCGTCGGTTCCGCGAATTTCAGCTGGCTGCCCGCCGTTGTATCGCATGTTATGGCAGAAGCAGGc                                                                                                 <  1:242507/149‑1 (MQ=255)
                                                    gAATGCATTTGCTAACCTGCAAAAGGTCGGTAAATCGCTGATGCTGCCGGTATCCGTACTGCCTATCGCAGGTATTCTGCTGCGCGTCGGTTCCGCCAATTTCAGCTGGCTGCCCGCCGTTGTATCGCATGTTATGGAAGACGCAGGCg                                                                                                >  2:323289/1‑149 (MQ=255)
                                                         cATTTGCTAACCTGCAAAAGGTCGGTAAATCGCTGATGCTGCCGGTATCCGTACTGCCTATCGCAGGTATTCTGCTGGGGGTCGGTCCCTGGAATTTTAGCTGGCTTCCCGCCGTTGTATCGCATGTTATGGCAGAAGCAGGCGGTTcc                                                                                           <  1:799172/149‑1 (MQ=255)
                                                                 aaCCTGCAAAAGGTCGGTAAATCGCTGATGCTGCCGGTATCCGTACTGCCTATCGCAGGTATTCTGCTGGGCGTCGGTTCCGCGAATTTCAGCTGGCTGCCCGCCGTTGTATCGCATGTTATGGCAGAAGCAGGCGGTTCCGTCTTTGc                                                                                   >  2:835196/1‑149 (MQ=255)
                                                                    cTGCAAAAGGTCGGTAAATCGCTGATGCTGCCGGTATCCGTACTGCCTATCGCAGGTATTCTGCTGGGCGTCGGTTCCGCGAATTTCAGCTGGCTGCCCGCCGTTGTATCGCATGTTATGGCAGAAGCAGGCGGTTCCGTCTTTGCaaa                                                                                >  1:36125/1‑149 (MQ=255)
                                                                     tGCAAAAGGTCGGTAAATCGCTGATGCTGCCGGTATCCGTACTGCCTATCGCAGGTATTCTGCTGGGCGTCGGTTCCGCGAATTTCAGCTGGCTGCCCGCCGTTGTATCGCATGTTATGGCAGAAGCAGGCGGTTCCGTCTTTGCAAAc                                                                               >  1:375244/1‑149 (MQ=255)
                                                                     tGCAAAAGGTCGGTAAATCGCTGATGCTGCCGGTATCCGTACTGCCTATCGCAGGTATTCTGCTGGGCGTCGGTTCCGCGAATTTCAGCTGGCAGGCCGCCGTTGTATCGCATGTTATGGCCGAAGCAGGCGGTTCCGTCTTTGCAAAc                                                                               >  1:191029/1‑149 (MQ=255)
                                                                      gCAAAAGGTCGGTAAATCGCTGATGCTGCCGGTATCCGTACTGCCTATCGCAGGTATTCTGCTGGGCGTCGGTTCCGCGAATTTCAGCTGGCTGCCCGCCGTTGTATCGCATGTTATGGCAGAAGCAGGCGGTTCCGTCTTTTCAAACa                                                                              >  2:754245/1‑149 (MQ=255)
                                                                       cAAAAGGTCGGTAAATCGCTGATGCTGCCGGTATCCGTACTGCCTATCGCAGGTATTCTGCTGGGCGTCGGTTCCGCGAATTTCAGCTGGCTGCCCGCCGTTGTATCGCATGTTATGGCAGAAGCAGGCGGTGCCGTCTTTGCAAACAt                                                                             >  1:501334/1‑149 (MQ=255)
                                                                          aaGGTCGGTAAATCGCTGATGCTGCCGGTATCCGTACTGCCTATCGCAGGTATTCTGCTGGGCGTCGGTTCCGCGAATTTCAGCTGGCTGCCCGCCGTTGTATCGCATGTTATGGCAGCAGCAGGCGGTTCCGTCTTTGCAAACACGcc                                                                          >  2:522764/1‑149 (MQ=255)
                                                                                    aaTCGCTGATGCTGCCGGTATCCGTACTGCCTATCGCAGGTATTCTGCTGGGCGTCGGTTCCGCGAATTTCAGCTGGCTGCCCGCCGTTGTATCGCATGTTATGGCAGAAGCAGGCGGTTCCGTCTTTGCAAACATGCCACTGAttttt                                                                <  2:31315/149‑1 (MQ=255)
                                                                                     aTCGCTGATGCTGCCGGTATCCGTACTGCCTATCGCAGGTATTCTGCTGGGCGTCGGTTCCGCGAATTTCAGCTGGCTGCCCGCCGTTGTATCGCATGTTATGGCAGAAGCAGGCGGTTCCGTCTTTGCAAACATGCCACTGATTTTTg                                                               <  1:84977/149‑1 (MQ=255)
                                                                                         cTGATGCTGCCGGTATCCGTACTGCCTATCGCAGGTATTCTGCTGGGCGTCGGTTCCGCGAATTTCAGCTGGCTGCCCGCCGTTGTATCGCAATAGAGGTCAGAAGCAGGCGGTTCCGTCTTTGCAAACATGCCACTGATTTTTGCGAt                                                           >  1:400121/1‑149 (MQ=255)
                                                                                           gATGCTGCCGGTATCCGTACTGCCTATCGCAGGTATTCTGCTGGGCGTCGGTTCCGCGAATTTCAGCTGGCTGCCCGACGTTGTATCGCAGGTTATGGCAGAAGCAGGCGGTTCCGTCTTTGCAAACATGCCACTGATTTTTGCGATCg                                                         <  1:158507/149‑1 (MQ=255)
                                                                                                tgcCGGTATCCGTACTGCCTATCGCAGGTATTCTGCTGGGCGTCGGTTCCGtctttgcaaacatgccactgatttttgcgatcggtgtcgccctcggctttaccaataacgatggcgtatcctcgctggccgcacttgttgcctatggc                                                    >  2:404085‑M1/1‑51 (MQ=255)
                                                                                                tgcCGGTATCCGTACTGCCTATCGCAGGTATTCTGCTGGGCGTCGGTTCCGCGAATTTCAGCTGGCTGCCCGCCGTTGTATCGCATGTTATGGCAGAAGCAGGCGGTTCCGTCTTTGCAAACATGCCACTGATTTTTGCGATCGGTGTc                                                    >  1:303533/1‑149 (MQ=255)
                                                                                                tgcCGGTATCCGTACTGCCTATCGCAGGTATTCTCCTGGGCACCGGTTCCGCCAATTTCCCCTGGCTGCCCGCCGTTCTATCGCATGTTATGGCAGAAGCAGGCGGTTCCGTCTTTGCAAACATGCCCCTGAATTTTGCGATCGATGTc                                                    >  2:6279/1‑149 (MQ=255)
                                                                                                tgcCGGTATCCGTACTGCCTATCGCAGGTATTCGACTGGGCGTCGGTGCCGCGAATTTCAGCTGGCTGCCCGCCGTTGTATCGCATGTTATGTCAGTAGAAGGCGTGTCCGTCTTTGCAAACATGACAGTGATTTTTGCGCGCGgtgta                                                    >  2:5784/1‑148 (MQ=255)
                                                                                                      tATCCGTACTGCCTATCGCAGGTATTCTGCTGAGCGTCGGTTCCGCGAATTTCAGCTGGCTGCCGGCCGTTGTATCGCATGTTATGGCAGAAGCAGGCGGTTCCGTCTTTGCAAACATGCCACTGATTTTTGCGATCGGTGTCGCCCTc                                              >  2:196740/1‑149 (MQ=255)
                                                                                                                 ccTATCGCAGGTATTCTGCTGGGCGTCGGTTCCGCGAATTTCAGCTGGCTGCCCGCCGTTGTATCGCATGTTATGGCAGAAGCAGGCGGTTCCGTCTTTGCAAACATGCCACTGATTTTTGCGATCGGTGTCGCCCTCGGCTTTACCaa                                   <  1:616366/149‑1 (MQ=255)
                                                                                                                    aTCGCAGGTATTCTGCTGGACTTCGGGTCCGCGAATTTCAGCTGGCTGCCCGCCGTTGTATCGCATGTTATGGCAGAAGCAGGCGGTTCCGTCTTTGCAAACATGCCACTGATTTTTGCGATCGGTGTCGCCCTCGGCTTTACCAATaa                                >  2:707752/1‑149 (MQ=255)
                                                                                                                     tCGCAGGTATTCTGCTGGGCGTCGGTTCCGCGAATTTCAGCTGGCTGCCCGCCGTTGTATCGCATGTTATGGCAGAAGCAGGCGGTTCCGTCTTTGCAAACATGCCACTGATTTTTGCGTTCGGTGTCGCCCTCGGCTTTACCACTagc                               >  2:730287/1‑147 (MQ=255)
                                                                                                                        gaGGTATTCTGCTGGGCGGCGGTTCCGCGAATTTCAGCTGGCTGCCCGCCGTTGTATCGCATGTTATGGCAGAAGCAGGCGGTTCCGTCTTTGCAAACATGCCACTGATTTTTGCGATCGGTGTCGCCCTCGGCTTTACCAATAACGAt                            <  1:185175/148‑1 (MQ=255)
                                                                                                                        cAGGTATTCTGCTGGGCGTCGGTTCCGCGAATTTCAGCTGGCTGCCCGCCGTTGTATCGCATGTTATGGCAGAAGCAGGCGGTTCCGTCTTTGCAAACATGCCACTGATTTTTGCGATCGGTGTCGCCCTCGGCTTTACCAATAACGAt                            <  1:712259/149‑1 (MQ=255)
                                                                                                                        cAGGTATTCTGCTGGGCGTCGGTTCCGCGAATTTCAGCTGGCTGCCCGCCGTTGTATCGCATGTTATGGCAGAAGCAGGCGGTTCCGTCTTTGCAAACATGCCACTGATTTTTGCGATCGGTGTCGCCCTCGGCTTTACCAATAACGAt                            >  1:543634/1‑149 (MQ=255)
                                                                                                                         aGGTATTCTGCTGGGCGTCGGTTCCGCGAATTTCAGCTGGCTGCCCGCCGTTGTATCGCATGTTATGGCAGAAGCAGGCGGTTCCGTCTTTGCAAACATGCCACTGATTTTTGCGATCGGTGTCGCCCTCGGCCTTACCAATAACGAtt                           >  2:606684/1‑148 (MQ=255)
                                                                                                                           gTATTCTGCTGGGCGTCGGTTCCGCGAATTTCAGCTGGCTGCCCGCCGTTGTATCGCATGTTATGGCAGAAGCAGGCGGTTCCGTCTTTGCAAACATGCCACTGATTTTTGCGATCGGTGTCGCCCTCGGCTTTACCAATAACGATGGc                         >  1:569387/1‑149 (MQ=255)
                                                                                                                           gTATTATGCTGGGCGTGGGTTCCGCTAATTTGAGCGGGCTGCCCGCCGTTGTATCGCATGGTATGGCAGAAGCAGGCGGTCCCGTCTTTGCAAACATGCCACTGATTTTTGCGATCGGTGTCGCCCTCGGCTTTACCAATAACGATGGc                         <  2:17928/149‑1 (MQ=255)
                                                                                                                               tCTGCTGGGCGTCGGTTCCGCGAATTTCAGCTGGCTGCCCGCCGTTGTATCGCATGTTATGGCAGAAGCAGGCGGTTCCGTCTTTGCAAACATGCCACTGATTTTTGCGATCGGTGTCGCCCTCGGCTTTACCAATAACGATGGCGTAt                     <  1:711081/149‑1 (MQ=255)
                                                                                                                                      ggCGTCGGTTCCGtctttgcaaacatgccactgatttttgcgatcggtgtcgccctcggctttaccaataacgatggcgtatccgcgctggccgcagtt                                                                <  1:398356‑M1/99‑87 (MQ=255)
                                                                                                                                      ggCGTCGGTTCCGtctttgcaaacatgccactgatttttgcgatcggtgtcgccctcggctttaccaataacgatggcgtatccgcgctggccgcagtt                                                                >  2:398356‑M1/1‑13 (MQ=255)
                                                                                                                                      ggCGTCGGTTCCGCGAATTTCAGCTGGCTGCCCGCCGTTGTATCGCATGTTATGGCAGAAGCAGGCGGTTCCGTCTTTGCAAACATGCCACTGATTTTTGCGATCGGTGTCGCCCTCGGCTTTACCCATAACGATGGCGTATCCGCGCt              >  1:596160/1‑149 (MQ=255)
                                                                                                                                        cGTCGGTTTCGCGAATTTAAGCTGGCTGCCCGCCGTTGTATCGGATGTTATGGCAGAAGCAGGCGGTTCCGTCTTTGCAAACATGCAACTGATGTTTGCGATCGGTGTCGCCCTCGGCTTTACCAATAACGATGGCGTATCCGCGCTgg            <  2:125178/149‑1 (MQ=255)
                                                                                                                                              ttCCGtctttgcaaacatgccactgatttttgcgatcggtgtcgccctcggctttaccaataacgatggcgtatccgcgctggccgcagttgttgcctatggcatcatggttaaaaccatggccgtggttgcgccactggtactgcatt      >  1:686420‑M1/1‑5 (MQ=255)
                                                                                                                                              ttCCGtctttgcaaacatgccactgatttttgcgatcggtgtcgccctcggctttaccaataacgatggcgtatccgcgctggccgcagttgttgcctatggcatcatggttaaaaccatggcagtggttgcgccactggtactgcatt      >  1:335278‑M1/1‑5 (MQ=255)
                                                                                                                                                  gtctttgcaaacatgccactgatttttgcgatcggtgtcgccctcggctttaccaataacgatggcgtatccgcgctggccgcagttgttgttgcctatggcatcatggttaaaaccatggccgtggttgcgccactggtactgcattt  >  1:110436‑M1/1‑1 (MQ=255)
                                                                                                                                                  gcgAATTTCAGCTGGCTGCCCGCCGTTGTATCGCATGTTATGGCAGAAGCAGGCGGTTCCGTCGTTGCAAACATGCCACTGATTTTTGCGATCGGTGTCGCCCTCGGCTGTACCAATAACGATGGCGTATCCGCGCTGGCCGAAgttgt  >  2:598426/1‑149 (MQ=255)
                                                                                                                                                  |                                                                                                                                                    
TGAGAACGTAAAAAAAGCACCCATACTCAGGAGCACTCTCAATTATGTTTAAGAATGCATTTGCTAACCTGCAAAAGGTCGGTAAATCGCTGATGCTGCCGGTATCCGTACTGCCTATCGCAGGTATTCTGCTGGGCGTCGGTTCCGCGAATTTCAGCTGGCTGCCCGCCGTTGTATCGCATGTTATGGCAGAAGCAGGCGGTTCCGTCTTTGCAAACATGCCACTGATTTTTGCGATCGGTGTCGCCCTCGGCTTTACCAATAACGATGGCGTATCCGCGCTGGCCGCAGTTGT  >  NC_000913_3_hsa_tpiA/1157825‑1158119

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: 
Reads not counted as support for junction
read_name Not counted due to insufficient overlap past the breakpoint.
read_name Not counted due to not crossing MOB target site duplication.