Predicted mutation
evidence	seq id	position	mutation	freq	annotation	gene	description
JC	NC_000913_3_hsa_tpiA	3,548,550	23 bp→TTTTTTTTTAATGATACGGCGAC	19.8%	coding (1499‑1521/2085 nt)	malQ ←	4‑alpha‑glucanotransferase (amylomaltase)

New junction evidence
		seq id	position	reads (cov)	reads (cov)	score	skew	freq	annotation	gene	product
*	?	NC_000913_3_hsa_tpiA	= 3548549	34 (0.920)	7 (0.230) +TTTTTTTTTAATGATACGGCGAC	6/228	NT	19.8%	coding (1522/2085 nt)	malQ	4‑alpha‑glucanotransferase (amylomaltase)
	?	NC_000913_3_hsa_tpiA	3548573 =	34 (0.920)					coding (1498/2085 nt)	malQ	4‑alpha‑glucanotransferase (amylomaltase)

TCCCAGTAACCGCGCAGCGTTGGCAGGTCATGTGTCGCCGCAACCGCCATCGACTGCTCCGGATACGCTTTCGGTGCACGGAACGTCTTCTCGTGGTCGTTTTCGAAATAGAGCACTTTGTAAGAGTACACACCGCTGCTGCGCAGCTTACCGACAATCTCTACCGGTACGGTACCGAGATCTTCACCAATCACCATACAGCGATGACGTTTACTTTCGAGTGCCAGAATCGAGAGCAGATCATCCACCGGATAGTGAACATACGCGCCCTGATCTGCCGTCTCGCCATAC  >  NC_000913_3_hsa_tpiA/3548401‑3548691                                                                                                                                                     |                                                                                                                                               tCCCAGTAACCGCGCAGCGTTGGCAGGTCATGTGTCGCCGCAACCGCCATCGACTGCTCCGGATACGCTTTCGGTGCACGGAACGTCTTCTCGTGGTCCTTCTCGACATCAAGCACTTTGTACGACTACCAACCGCTGCTGCCCCGCtt                                                                                                                                                >  2:415379/1‑149 (MQ=255)   gcAGTGACCGCGCAGCGTTGGCAGGTCATGAGGCCCCCCAACGGCTATCGACTGCTCCGGATCCGCTTTCGGTGCACGGAACGTCTTCTCGTGGTCGTTTTCGAAATAGAGCACTTTGTAAGAGTACACACCGCTGCTGCGCAGCTCAc                                                                                                                                              <  2:221624/148‑1 (MQ=255)   acacgaaCCGCGCAGGGTTGGTTCGTCGGGTGGCGCCGCTACCGCTATCGTCTGTTTCGGATCCGCTTTCTGTGCACGGCACGTCTTCGCGTGGTCGTTTTCGAAATAGAGCACTTTGTAAGAGTACACACCGTTGCTGCGCAGCTTAc                                                                                                                                              <  2:539905/144‑1 (MQ=255)    cAGTAACCGCGCAGCGTTGGCAGGTCATGTGTCGCCGCAACCGCCATCGACTGCTCCGGATACGCTTTCGGTGCACGGAACGTCTTCTCGTGGTCGTTTTCGAAATAGAGCACTTTGTAAGAGTACACACCGCTGCTGCGCAGCTTAcc                                                                                                                                             >  1:88585/1‑149 (MQ=255)      gTAACCGCGCAGCGTTGGCAGGTCATGTGTCGCCGCAACCGCCATCGACTGCTCCGGATACGCTTTCGGTGCACGGAACGTCTTCTCGTGGTCGTTTTCGAAATAGAGCACTTTGTAAGAGTACACACCGCTGCTGCGCAGCTTACCGa                                                                                                                                           <  1:443650/149‑1 (MQ=255)           cgcgCAGCGTTGGCAGGTCATGTGTCGCCGCAACCGCCATCGACTGCTCCGGATACGCTTTCGGTGCACGGAACGTCTTCTCGTGGTCGTTTTCCAAATAGAGCACTTTGTAAGAGTACACACTGCTGCTGCGCAGCTTACCGACAAtc                                                                                                                                      >  1:448815/1‑149 (MQ=255)                aGCGTTGGCAGGTCATGTGTCGCCGCAACCGCCATCGACTGCTCCGGATACGCTTTCGGTGCACGGAACGTCTTCTCGTGGTCGTTTTCGAAATAGAGCACTTTGTAAGAGTACACACCGCTGCTGCGCAGCTTACCGACAATCTCTAc                                                                                                                                 <  2:373374/149‑1 (MQ=255)                 ggcttGGCTGGTCATGTGTTGCTGCGCCCGCCATCGACTGCGCCGGATACGCTGGCGTTGCACGGCACGTCTTCTCGTCGTCGTTTTCGAAATAGAGCACTTTGTAAGAGTACACACCGCTGCTGCGCAGCTTACCGACAATCTCTAcc                                                                                                                                <  2:555176/146‑1 (MQ=255)                  cGTTGGCAGGTCATGTGTCGCCGCAACTGCCATCGACTGCTCCGGATACGCTTTCGGTGCACGGAACGTCTTCTCGTGGTCGTTTTCGAAATAGAGCACTTTGTAAGAGTACACACCGCTGCTGCGCAGCTTACCGACAATCTCTACcg                                                                                                                               <  1:105939/149‑1 (MQ=255)                            tCATGTGTCGCCGCAACCGCCATCGACTGCTCCGGATACGCTTTCGGTGCACGGAACGTCTTCTCGTGGTCGTTTTCGAAATAGAGCACTTTGTAAGAGTACACACCGCTGCTGCGCAGCTTACCGACAATCTCTACCGGTACGGTAcc                                                                                                                     <  1:277774/149‑1 (MQ=255)                              atggggcgccgcCACCGCCAGCGCCGTCTCCGGATCCGCTGTTGGTGCACGGAGCGTCTTCTCGTGGTCGTTTTCGAAATAGAGCACTTTGTAAGAGTACACACCGCTGCTGCGCAGCTTACCGACAATCTCTACCGGTACGGTACCga                                                                                                                   <  2:612443/143‑1 (MQ=255)                               tgtgTCGCCGCAACCGCCATCGACTGCTCCGGATACGCTTTCGGTGCACGGAACGTCTTCTCGTGGTCGTTTTCGAAATAGAGCACTTTGTAAGAGTACACCCCGATGCTGCGCGGCTTATCGACAATCTCTACCGGTACGGTACCggg                                                                                                                  >  1:128079/1‑147 (MQ=255)                                     gccgcAACCGCCATCGACTGCTCCGGATACGCTTTCGGTGCACGGAACGTCTTCTCGTGGTCGTTTTCGAAATAGAGCACTTTGTAAGAGTACACACCGCTGCTGCGCAGCTTACCGACAATCTCTACCGGTACGGTACCGAGATCTTc                                                                                                            >  1:419953/1‑149 (MQ=255)                                      ccgcAACCGCCATCGACTGCTCCGGATACGCTTTCGGTGCACGGAACGTCTTCTCGTGGTCGTTTTCGAAATAGAGCACTTTGTAAGAGTACACACCGCTGCTGCGCAGCTTACCGACAATCTCTACCGGTACGGTACCGAGATCTTCa                                                                                                           <  1:562660/149‑1 (MQ=255)                                               ccATCGACTGCTCCGGATACGCTTTCGGTGCACGGAACGTCTTCTCGTGGTCGTTTTCGAAATAGAACACTCAGTAAGAGTACATACCGTTGCTCCGCAGCTTACCAACAATCTCTACCGGTACGCTACCGACACCTTCAACAATCAcc                                                                                                  >  2:598007/1‑149 (MQ=255)                                                         cTCCGGTGACGCTTTCGGTGCACGGAACGTCTTCTCTTGGTCGTTTTCGAAATAGATCGCTTTGTAAGAGTACACACCGCTGCTGCGCAGCTTtttgtttttcatgatccggcgggcaccgagatctacaccaatcaccatacagcgat                                                                                        <  2:98282‑M1/149‑57 (MQ=255)                                                            cGGATACGTTTTCGGTCCACGGAACGTCTTCTCGTGGGCGTTTTCGAAATAGTGCATTTTGTAAGAGTACCCACCGCTGTTGCGCAGCTTtttttttttaatgatacggcgaccaccgagatctacaccaatcaccatacagcgatgac                                                                                     <  2:158791‑M1/149‑60 (MQ=255)                                                            cGGATACGCTTACGGTGCACGGAACGTCTTCTCGTGGTCGTTTTCGAAATAGAGTACTTTGTAAGAGTACACACCGCTGCTGCGCAGCTTattgtttttaatgatacggcgagcaccgagatctacaccaatcaccatacagcgatgac                                                                                     <  2:368296‑M1/149‑60 (MQ=255)                                                                     tttCTGTGTACGGAACGGCTTCTCTTGGTCGTTGTCGAAATAGAGCATTTTGTAAGAAGACACACCGCTGCTGCGCCGATTttgttttttaatgatacggcgaccaccgagatctacaccaatcaccatacagcgatgacgtttacttt                                                                            <  2:213522‑M1/149‑69 (MQ=255)                                                                      ttCGGTGCAGGGAACGTCTTCTCGTGGTCGTTTGTGAAATTGAGCACTTTGTAATAGTACACACCGCTGCTGCGCAGTTTtttttttttaatgatacggcgaccaccgagatctacaccaatcaccatacagcgatgacgtttactttc                                                                           <  2:381381‑M1/149‑70 (MQ=255)                                                                         ggTGCACGGAACGTCTTCTCGTGGTCGTTTTAGAAATAAAGCACTTTGTAAGAGTACACACCGCTGCTGCGCAGCTTACCGACAATCTCTACCGGTACGGTACCGAGATCTTCACCAATCACCATACAGCAGTCACGGTTCCTTTAGat                                                                        >  2:438668/1‑148 (MQ=255)                                                                         ggTGAACGGAAGGTCTTCTCGTTGTTGTTTTCGAACTAGACCTCTTTGTAAGAGTACACACCGCCGCTGCGCATCTTtttttttttaatgatacggcgaccaccgagatctacaccaatcaccatacagcgatgacgtttactttcgag                                                                        <  2:74321‑M1/149‑73 (MQ=255)                                                                          gTGCACGGAACGTCTTCTCGTGGTCGTTTTCGAAATAGAGCACTTTGTAAGAGTACACACCGCTGCTGCGCAGCTTACCGACAATCTCTACCGGTACGGTACCGAGATCTTCACCAATCACCATACAGCGATGACGTTTACTTTCGAGt                                                                       <  1:111789/149‑1 (MQ=255)                                                                           tGCACGGAACGTCTTCTCGTGGTCGTTTTCGAAATAGAGCACTTTGTAAGAGTACACACCGCTGCTGCGCAGCTTACCGACAATCTCTAACGGTACGGTACCGAGATCTTCACCACTCACCAGACAGCGATGACGTTTACTTTAGAGTg                                                                      <  1:140115/149‑1 (MQ=255)                                                                              aCGGAACGTCTTCTCGTGGTCGTTTTCGAAATAGAGCACTTTGTAAGAGTACACACCGCTGCTGCGCAGCTTACCGACAATCTCTACCGGTACGGTACCGCGATCTTCACCAATCACCATACAGCGATGACGTTTACTTTAGaccacca                                                                   >  1:536702/1‑143 (MQ=255)                                                                                      tcttctCGTGGTCGTTTTCGAAATAGAGCACTTTGTAAGAGTACACACCGCTGCTGCGCAGCTTACCGACAATCTCTACCGGTACGGTACCGAGATCTTCACCAATCACCATACAGCGATGACGTTTACTTTCGCGTGCCAGAATCgag                                                           >  1:409901/1‑149 (MQ=255)                                                                                       cttctCGTGGTCGTTTTCGGAATAGAGCACTTTGTAAGAGTACACACCGCTGCTGCGCAGCTTACCGACACTCTCTACCGGTACGGTACCGAGATCTTCACCAATCACCATACAGCGATGACGGTTACTTTCAACTGCCACAATCgaga                                                          >  2:586732/1‑149 (MQ=255)                                                                                           tcGTGGTCGTTTTCGAAATAGAGCACTTTGTAAGAGTAAACCCCGCTCCACAGTCCACGACCATTAAGCTCTACCGGTACGGTACCGAGATCTTCACCCATCACCCTACAGCGATGACGTTTACTTTCGCGAGCCAGCATCgaagacag                                                      >  2:601345/1‑143 (MQ=255)                                                                                                    ttttCGAAATAGAGCACTTTGTAAGAGTACACACCGCTGCTGCGCAGCTTACCGACAAGCTCTACCGGTACGGTACCGAGATCTTCACCAATCACCATACAGCGATGACGTTTACTTTCGAGTGCCAGAATCGAGAGCAGATCATCCAc                                             <  1:326599/149‑1 (MQ=255)                                                                                                         taaaTAGAGCACTTTGTAAGAGTACACACCGCTTCTGCGCAGCTTACCCGCCATCTCTACCGGTGCGGTACCGAGATCTTCACCAATCACCATACAGCGACAACGCTTACTTTCGGCTACAAGAATGCAGAGAAGATCATGCagagtag                                        >  2:310192/2‑143 (MQ=255)                                                                                                         gAAATAGAGCACTTTGTAAGAGAACACACCGCTGCAGCGCAGCTTACCGACAATCACTACCGGTACGGTACGGAGAGCTACACCAATCACAATCCAACCAACACGTTTACATTCGAGTGCCAGAACCGAAACAAGATACTCCACCGGaa                                        >  2:174581/1‑148 (MQ=255)                                                                                                           aaTAGAGCACTTTGTAAGAGTACACACCGCTGCTGCGCAGCTTACCGACAATCTCTACCGTTACGGTACCGAGATCTTCACCAATCACCATCCAGCGATGACGTTTACTTTCGAGTGCCGGAATCGAGTGCAGATCATCCCCCGGATAg                                      >  1:186790/1‑149 (MQ=255)                                                                                                                agCACTTTGTAAGAGTACAGACCGCTGCTGCGCAGCTTACCGACAATCTCTACCGGTACGGTACCGAGATCTTCACCAATCACCATACAGAGACGACGTGTACTTTCGAGTGCCAGAATCGAGAGCAGATCATCCACCGGATAGTGAAc                                 <  1:483047/149‑1 (MQ=255)                                                                                                                  cACTTTGTAAGAGTACACACCGCTGCTGCGCAGCTTACCGACAATCTCTACCGGTACGGTACCGAGATCTTCACCACTCACCACACAGCGATGACGTTTACTTTCGAGTGCCAGAGTGGAGAGCGGAGCATACACCGGAGAGTGAACAt                               >  1:150710/1‑149 (MQ=255)                                                                                                                  cACTTTGTAAGAGTACACACCGCTGCTGCGCAGCTTACCGACAATCTCTACCGGTACGGTACCGAGATCTTCACCAATCACCATACAGCGATGACGTTTACTTTCGAGTGCCAGAATCGAGAGCAGATGATCCACCGGATAGCGAACAt                               >  1:384443/1‑149 (MQ=255)                                                                                                                     tttGTAAGAGTACACACCGCTGCTGCGCAGCTTACCGACAATCTCTACCGGTACGGTACCGAGATCTTCACCAATCACCATACAGCGATGACGTTTACTTTCGAGTGCCAGAATCGAGAGCAGATCATCCACCGGATAGTGAACa                                >  2:610198/1‑145 (MQ=255)                                                                                                                     tttGTAAGAGTACACACCGCTGCTGCGCAGCTTACCGACAATCTCTACCGGTACGGTACCGAGATCTTCACCAATCACCATACAGCGATGACGTTTACTTTCGAGTGCCAGAATCGAGAGCAGATCATCCACCGGATAGTGAACa                                <  1:610198/145‑1 (MQ=255)                                                                                                                     tttGTAAGAGTACACACCGCTACTGCGCAGCTTACCGACAATCTCTACCGGTACGGTACCGAGATCTTCACGAATCAACATACAGCGCTGACGTTTAAGTTCGAGTGCCAGAAACGCGAGCAGATAATCCACCAGACAGTGAACATAcc                            >  2:48831/1‑148 (MQ=255)                                                                                                                      tttgaagaggACACACCTCTGCCGCGCAGCTTtttttttttaatgatacggcgaccaccgagatctacaccaatcaccatacagcgatgacgtttactttcgagtgccagaatcgagagcagatcatccaccggatagtgaacatacgc                           <  2:632283‑M1/145‑118 (MQ=255)                                                                                                                         tAAGAGTACACACCGCTGCTGCGCAGCTTACCGACAATCTCTACCGGTACGGTACCGAGATCTTCACCAATCACCATACAGCGATGACGTTTACCTTCGAGGGCCAGAATCACGACCAGATCATCCACCTCATAGTGAACATAcccccc                        >  1:159636/1‑144 (MQ=255)                                                                                                                           agagTACACACCGCTGCTGCGCAGCTTACCGACAAGCTCTACCGGTACGGTACCGAGATCTTCACCAATCACCATACAGCGATGACGTTTACTTTCGAGTGCCAGAATCGAGAGCAGATCACCCACCGGATAGTGAACATACGCGCCCt                      <  1:573591/149‑1 (MQ=255)                                                                                                                              gTACACACCGCTGCTGCGCAGCTAACCGACAATCTCTACCGGTACGGTACCGAGATCTTCACCAATCACCATACAGCGATGACGTTTACTTTCGAGTGCCAGAATCGAGAGCAGATCATCCACCGGATAGTGAACATACGCGCCCTGAt                   <  1:553035/149‑1 (MQ=255)                                                                                                                               tACACACCGCGGCTGCGCAGCTTACCGTTAATCACTATCGGGACGCTACCGAGATCTACACCAATCACCATACAGCGATGACGTTTACTTTCGAGTGCCAGAATCGAGAGCAGATCATCCACCGGATAGTGAACATACGCGCCCTGATc                  <  2:512530/149‑1 (MQ=255)                                                                                                                                 cacacCGCTGCTGCGCAGCTTACCGACAATCTCTACCGGTACGGTACCGAGATCTTCACCAATCACCATACAGCGATGACGTTTACTTTCGAGTGCCAGAATCGAGAGCAGATCATCCACCGGATAGTGAACATCCGCGCCCTGATCTg                >  1:645759/1‑149 (MQ=255)                                                                                                                                      cGCTGCTGGGCAGCATGCCGATTATCTCTACCGGTACGCCACCGAGATCTACACCAATCACCATACAGCGATGACGTTTACTTTCGAGTGCCAGAATCGAGAGCAGATCATCCACCGGATAGTGAACATACGCGCCCTGATCTGCCGtc           <  2:282922/149‑1 (MQ=255)                                                                                                                                               gcAGCTTACCGACAATCTCTACCGGTACGGTACCGAGATCTTCACCAATCACCATACAGCGATGACGTTTACTTTCGAGTGCCAGAATCGAGAGCAGATCATCCACCGGATAGTGAACATACGCGCCCTGATCTGCCGTCTCGCCATAc  <  1:545686/149‑1 (MQ=255)                                                                                                                                                     |                                                                                                                                               TCCCAGTAACCGCGCAGCGTTGGCAGGTCATGTGTCGCCGCAACCGCCATCGACTGCTCCGGATACGCTTTCGGTGCACGGAACGTCTTCTCGTGGTCGTTTTCGAAATAGAGCACTTTGTAAGAGTACACACCGCTGCTGCGCAGCTTACCGACAATCTCTACCGGTACGGTACCGAGATCTTCACCAATCACCATACAGCGATGACGTTTACTTTCGAGTGCCAGAATCGAGAGCAGATCATCCACCGGATAGTGAACATACGCGCCCTGATCTGCCGTCTCGCCATAC  >  NC_000913_3_hsa_tpiA/3548401‑3548691

Alignment Legend
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 8 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 22 ≤ 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.