Predicted mutation
evidence seq id position mutation annotation gene description
MC JC NC_000913_3_hsa_tpiA 3,815,859 Δ82 bp [rph][rph] [rph], [rph]

Missing coverage evidence...
   seq id start end size ←reads reads→ gene description
* * ÷ NC_000913_3_hsa_tpiA 3815859 3815940 82 32 [0] [0] 32 [rph]–[rph] [rph],[rph]

New junction evidence
  seq id position reads (cov) reads (cov) score skew freq annotation gene product
* ? NC_000913_3_hsa_tpiA = 38158580 (0.000)28 (0.710) 27/266 0.6 100% pseudogene (24/48 nt) rph ribonuclease PH (defective);enzyme; Degradation of RNA; RNase PH
?NC_000913_3_hsa_tpiA 3815941 = 0 (0.000)pseudogene (609/669 nt) rph ribonuclease PH (defective);enzyme; Degradation of RNA; RNase PH

TTTAACACCTGCTTGCTAAGCGCAAATTCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTCGCCTTCTGCCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCG  >  NC_000913_3_hsa_tpiA/3815713‑3816004
                                                                                                                                                  |                                                                                                                                                  
tttAACACCTGCTTGCTAAGCGCAAATTCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCcgt                                                                                                                                                 >  1:465487‑M1/1‑146 (MQ=255)
            ttgctAAGCGCAAATTCAATAAACTGGCGATGATATGGTTTCATGCCTTCGCTATTCATCTTACTTTTCTGCAGACAAAAAAAAGGCGACTCATCAGTCGCCTGAAAAATCAGTTTGCCAGCGCCCCCTTCTGCcgtcccctgcgcttc                                                                                                                                     >  1:616673‑M1/1‑134 (MQ=255)
                     gcAAATTCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCcgtcccctgcacttcaatgatgcg                                                                                                                            <  1:383526‑M1/149‑25 (MQ=255)
                             aaTAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCGGCCTTCTGCcgtcccctccacttcaatgatgcgcccgtct                                                                                                                     >  2:397356‑M1/1‑118 (MQ=255)
                              aTAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAACAGGCGCCTCATCAATGGCCTTAAAATTCAGTTTTACAGGGCCGCCTTCTGCcgtctcctgctcttcggtgatgcgcccgtcttc                                                                                                                   >  1:28775‑M1/1‑116 (MQ=255)
                               tAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCcgtcccctgca                                                                                                                                         >  2:46442‑M1/1‑115 (MQ=255)
                               tAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCcgtcccctgca                                                                                                                                         <  1:46442‑M1/126‑12 (MQ=255)
                                        gcTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCcgtcccctgcacttcaatgatgcgcccgtctt                                                                                                                    <  1:530620‑M1/138‑33 (MQ=255)
                                        gcTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCcgtcccctgcacttcaatgatgcgcccgtctt                                                                                                                    >  2:530620‑M1/1‑106 (MQ=255)
                                            agatggTTTCATGCCTTCGCTCCTCACCTGACTTTTCTACAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCcgtcccctgcacttcaatgatgcgcccgtcttcggtcatcactacgt                                                                                                     <  2:625605‑M1/147‑48 (MQ=255)
                                                    tCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCcgtcccctgcacttcaatgatgcgcccgtcttcggtcataactacgttcatgtcg                                                                                             >  2:612985‑M1/1‑94 (MQ=255)
                                                      aTGCCTTCGCTCCTTATCTTACTTTTCTACAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCcgtcccctgcacttcaatgatgcgcccgtcttcggtcatcactacgttcatgtcggt                                                                                           <  1:390939‑M1/149‑58 (MQ=255)
                                                      aTGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCcgtcccctgcacttcaatgatgcgcccgtcttcggtcatcactacgttcatgtcggt                                                                                           <  1:223737‑M1/149‑58 (MQ=255)
                                                          cTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTCCTGCcgtccccagcacttcaattatgcgcccgtcttcggtcatcactacgttcatgtcggtctct                                                                                       >  2:173814‑M1/1‑88 (MQ=255)
                                                               ctcctcATCTTACTTTTCTACAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCcgtcccctgcacttcaatgatgcgcccgtcttcggtcatcactacgttcatgtcggtctctgcggc                                                                                  >  1:372088‑M1/1‑83 (MQ=255)
                                                                      actTACTTTTCTACAAACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCcgtcccctgcacttcaatgatgcgcccgtcttcggtcatcactacgttcatgtcggtccctgcggcagagtct                                                                           <  2:528240‑M1/148‑74 (MQ=255)
                                                                           cTTTTCTACAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCcgtcccctgcacttcaatgatgcgcccgtcttcggtcatcactacgttcatgtcggtctctgcggcagagtcttcaac                                                                      >  1:428996‑M1/1‑71 (MQ=255)
                                                                            ttttCTACAGACAAAAAAAAGGCGACTCGTCAGTCGCCTTAAAAAACAGTTTGCCAGCGCCGCCTTCTGCcgtcccctgcacttcaatgatgcgcccgtcttcggtcatcactacgttcatgtcggtctctgcggcagagtcttcaacg                                                                     >  1:578217‑M1/1‑70 (MQ=255)
                                                                                  aCAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCcgtcccctgcacttcaatgatgcgcccgtcttcggtcatcactacgttcatgtcggtctctgcggcagagtcttcaacgtattcc                                                               <  1:422606‑M1/149‑86 (MQ=255)
                                                                                      aCAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCcgtcccctgcacttcaatgatgcgcccgtcttcggtcatcactacgttcatgtcggtctctgcggcagagtcttcaacgtattccagat                                                           >  2:702523‑M1/1‑60 (MQ=255)
                                                                                       ataaaaaaaaggCGGCTCGTCAGGCGCATTAAAAAGCAGTTTGCCAGCTCCGCCTTCTGCcgtcccctgcacttcaatgatgcgcccgtcttcggtcatcactacgttcatgtcggtctctgcggcagagtcttcaacgtattccagat                                                           <  2:539969‑M1/147‑90 (MQ=255)
                                                                                                                   ttAAAAAACAGTTTGCCAGCACCGCCTTCTGCcgtcccctgcacttcaatgatgcccccgtcttcggtcatcactacggtcatgtcggtctctgcgacagagtcttcaacggattccagatcgcgaaccgcgtcgccgttcacaattcc                               >  1:673009‑M1/1‑32 (MQ=255)
                                                                                                                     aaaaaTCAGTTTGCCAGCGCCGCCTTCTGCcgtcccctgcacttcaatgatgcgcccgtcttcggtcatcactacgttcatgtcggtctctgcggcagagtcttcaacgtattccagatcgcaaaccgcttcgccgttcacaattccga                             <  1:702523‑M1/149‑120 (MQ=255)
                                                                                                                             gTTTGCCAGCGCCGCCTTCTGCcgtcccctgcacttcaatgatgcgcccgtcttcggtcatcactacgttcatgtcggtctctgcggcagagtcttcaacgtattccagatcgcaaaccgcttcgccgttcacaattccgacagaaact                     >  1:609274‑M1/1‑22 (MQ=255)
                                                                                                                              tttGCCAGCGCCGCCGTCTGCcgtcccctgcacttcaatgatgcgcccgtcttcggtcatcactacgttcatgtcggtctctgcggcagagtcttcaacgtattccagatcgcaaaccgcttcgccgttcacaattccgacagaaactg                    <  1:561613‑M1/149‑129 (MQ=255)
                                                                                                                                 gCCAGCGCCGCCGTCTGCcgtccccgtcccttcaatgagtctcccgtcttcggtcatcactacgttcatgtcggtctctgcggcagagtcttcaacgtattccagatcgcaaaccgcttcgccgttcacaattccgacagaaactgcgg                 <  2:352400‑M1/149‑132 (MQ=255)
                                                                                                                                     gcgcCGCCTTCTGCcgtcccctgcacttcaatgatgcgcccgtcttcggtcatcactacgttcatgtcggtctctgcggcagagtcttcaacgtattccagatcgcaaaccgcttcgccgttcacaattccgacagaaactgcggctac             <  2:428996‑M1/149‑136 (MQ=255)
                                                                                                                                     gcgcCGCCTTCTGCcgtcccctgcacttcaatgatgcgcccgtcttcggtcatcactacgttcatgtcggtctctgcggcagagtcttcaacgtattccagatcgcaaaccgcttcgccgttcacaattccgacagaaactgcggctac             >  1:444117‑M1/1‑14 (MQ=255)
                                                                                                                                            cTTCTGCcgtcccctgcacttcaatgatgcgcccgtcttcggtcatcactacgtccttgtcggtctctgccgcagagtcttcaacgtattacagatcgcaaaccgcttcgccgttcacaattccgacagcaactgcggctaccatccct      <  2:616673‑M1/149‑143 (MQ=255)
                                                                                                                                               cTGCcgtcccctgcacttcaatgatgcgcccgtcttcggtcatcactacgttcatgtcggtctctgcggcagagtcttccacgtattccagatcgcaacccgcttggccgttcacaattccgacagaaactgcggctaccatccctttc   >  1:421957‑M1/1‑4 (MQ=255)
                                                                                                                                                tGCcttcccctgcacttcaatgatgcgcccgtcttcggtcatcactacgttcatgtcggtctctgcggcagagtcttcaacgtattccagatcgcaaaccgcttcgccgttcacaattccgacagaaactgcggctaccatccctttca  <  1:263693‑M1/149‑147 (MQ=255)
                                                                                                                                                tGCcgtcccctgcacttcaatgatgcgcccgtcttcggtcatcactacgttcatgtcggtctctgcggcagagtcttcaacgtattccagatcgcaaaccgcttcgccgttcacaattccgacagaaactgcggctaccatccctttca  <  1:15927‑M1/149‑147 (MQ=255)
                                                                                                                                                  |                                                                                                                                                  
TTTAACACCTGCTTGCTAAGCGCAAATTCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTCGCCTTCTGCCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCG  >  NC_000913_3_hsa_tpiA/3815713‑3816004

Alignment Legend
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 13 ≤ ATCG/ATCG < 32 ≤ 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.