New junction evidence | |||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|
seq id | position | reads (cov) | reads (cov) | score | skew | freq | annotation | gene | product | ||
* | ? | NC_000913_3_hsa_tpiA | = 3548549 | 38 (0.770) | 9 (0.220) +TTTTTTTTTAATGATACGGCGAC |
8/236 | 4.2 | 22.5% | coding (1522/2085 nt) | malQ | 4‑alpha‑glucanotransferase (amylomaltase) |
? | NC_000913_3_hsa_tpiA | 3548573 = | 36 (0.730) | coding (1498/2085 nt) | malQ | 4‑alpha‑glucanotransferase (amylomaltase) | |||||
Rejected: Coverage evenness skew score above cutoff. |
CCAGTAACCGCGCAGCGTTGGCAGGTCATGTGTCGCCGCAACCGCCATCGACTGCTCCGGATACGCTTTCGGTGCACGGAACGTCTTCTCGTGGTCGTTTTCGAAATAGAGCACTTTGTAAGAGTACACACCGCTGCTGCGCAGCTTACCGACAATCTCTACCGGTACGG‑‑‑‑T‑‑‑‑ACCGAGATCTTCACCAATCACCATACAGCGATGACGTTTACTTTCGAGTGCCAGAATCGAGAGCAGATCATCCACCGGATAGTGAACATACGCGCCCTGATCTGCCGTCTCGCCATACGG > NC_000913_3_hsa_tpiA/3548403‑3548693 | ccAGTAACCGCGGAGCGTTGGCAGGTCATGTGTCGCCGCAACCGCCATCGACTGCTCCGGATACGCTTTCGGTGCACGGAACGTCTTCTCGTGGTCGTTTTCGAAATAGAGCACTTTGTAAGAGTACACACCGCTGCTGCGCAGCTTAc < 1:353333/149‑1 (MQ=255) ccAGTAACCGCGCAGCGTTGGCAGGTCATGTGTCGCCGCAACCGCCATCGACTGCTCCGGATACGCTTTCGGTGCACGGAACGTCTTCTCGTGGTCGTTTTCGAAATAGAGCACTTTGTAAGAGTACACACCGCTGCTGCGCAGCTTAc > 1:28366/1‑149 (MQ=255) cAGTAACCGCGCAGCGTTGGCAGGTCATGTGTCGCCGCAACCGCCATCGACTGCTCCGGATACGCTTTCGGTGCACGGAACGTCTTCTCGTGGTCGTTTTCGAAATAGAGCACTTTGTAAGAGTACACACCGCTGCTGCGCTGCTCAcc > 1:283563/1‑149 (MQ=255) gTAACCGCGCAGCGTTGGCAGGTCATGTGGCGCCGCAACCGCCATTGACTGCTCCGGTTACGCTTTCGGTGCACGGAACGTCTTCTCGTGGTCGTTTTCGAAATAGCGCACTTTGTAAGAGTACACACCGCTGCTGCGCAGCTTACCGa < 2:155156/149‑1 (MQ=255) ccacagaGCGTGGGCAGGTCATGTGTCGCCGAAACCGCCATGGACTTTGCCGAATACGCGTTCGGTGCACGGAACGTCTTCTCGTGGCCGTTTTCGAAATAGAGCACTTTGTAAGAGTACACACCGCTGCTGCGCAGCTTACCGACAAt < 2:155292/143‑1 (MQ=255) ccGCGCAGCGTTGGCAGGTCATGTGTCGCCGCAACCGCCATCGACTGCTCCGGATACGCTTTCGGTGCACGGAACGTCTTCTCGTGGTCGTTTTCGAAATAGAGCACGTTGTAAGGGTACACACCGCTGCTGCGCCGCTTACCGACAAt > 1:14712/1‑149 (MQ=255) cgcgCAGCGTTGGCAGGTCATGTGTCGCCGCAACCGCCATCGACTGCTCCGGGTACGCTTTCGGTGCACGGAACGTCTTCTCGTGGTCGTTTTCTAAATAGAGCACTTTGTAAGAGTACACACCGCTGCTGCGCAGCTTACCGACAAtc > 2:660047/1‑149 (MQ=255) cgcgCAGCGTTGGCAGGTCATGTGTCGCCGCAACCGCCATCGACTGCTCCGGATACGCTTTCGGTGCACGGAACGTCTTCTCGTGGTCGTTTTCGAAATAGAGCACTTTGTAAGAGTACACACAGCTGCAGCGCAGCTTACCGACAAtc > 2:685031/1‑149 (MQ=255) gCGTTGGCAGGTCATGTGGCGCCGCAACCGCCATCGACTGCTCCGGATACGCTTTCGGTGCACGGAACGTCTTCTCGTGGTCGTTTTCGAAATAGAGCACTTTGTAAGAGTACACACCGCTGCTGCGCAGCTTACCGACAATCTCTAcc < 1:685451/149‑1 (MQ=255) gCAGGTCATGTGTCGCCGCCACCGCCATCGACCGCTCCGCATACGCTTTCGGTGCACGGAACGTCTTCTCGTGGTCGTTTTCGAAATAGTGCACTTTGTAAGAGTACACACCGCTGCTGCGCAGCTTACCGACAATCTCTACcggtacg < 1:294067/149‑1 (MQ=255) ggTGATGTGTCGCCGCCACCGCCATCGACTGCTCCGGATACGCTTTCGGGGCACGGAACGTCTTCTCGTGGTCGTTTTCGAAATAGAGCACTTTGTAAGAGTACACACCGCTGCTGCGCAGCTTACCGACAATCTCTACcggtacgg‑‑‑‑t‑‑‑‑a < 2:82152/149‑1 (MQ=255) gTCATGTGTCGCCGCAACCGCCATCGACTGCTCCGGATACGCTTTCGGTGCACGGAACGTCTTCTCGTGGTCGTTTTCGAAATAGAGCACTTTGTAAGAGTACACACCGCTGCTGCGCAGCTTACCGACAATCTCTAc > 2:249292/1‑138 (MQ=255) gTCATGTGTCGCCGCAACCGCCATCGACTGCTCCGGATACGCTTTCGGTGCACGGAACGTCTTCTCGTGGTCGTTTTCGAAATAGAGCACTTTGTAAGAGTACACACCGCTGCTGCGCAGCTTACCGACAATCTCTAc < 1:249292/138‑1 (MQ=255) aTGTGTCGCCGCCACCGCCATCGACTGCTGCGGATACGCTTTCGGTGCACGGAACGTCTTCTCGTGGTCGTTTTCGAAATAGAGCACTTTGTAAGAGTACACACCGCTGCTGCGCAGCTTACCGACAATCTCTACCGGTACGG‑‑‑‑T‑‑‑‑ACCga < 2:323048/149‑1 (MQ=255) aTGTATCGCCCCAACCGCCATCGACTGCTCCGGATACCGTTGGGGTGCCCGGAACGTCTTCTCGTGGTCGTTTTCGAAACAGAGCACTTTGTAAGAGTACACACCGCTGCTGCGCAGCTTACCGACAATCTCTACCGGTACGG‑‑‑‑T‑‑‑‑ACCga < 2:750196/149‑1 (MQ=255) tCGCCGCAACCGCCATCGACTGCTCCGGATACGCTTTCGGTGCACGGAACGTCTTCTCGTGGTCGTTTTCGAACTACAGCACTTTGTAAGAGTACACACCGCTGCTGCGCAGCTTACCGACCATCTCTACCGGTACGG‑‑‑‑T‑‑‑‑ACCGAGACCt > 2:161557/1‑149 (MQ=255) tCGCCGCAACCGCCATCGACTGCTCCGGATACGCTTTCGGTGCACGGAACGTCTTCTCGTGGTCGTTTTCGAAATAGAGCACTTTGTAAGAGTACACACCGCTGCTGCGCAGCTTACCGACAATCTCTACCGGTACGG‑‑‑‑T‑‑‑‑ACCGAGATCt > 1:590980/1‑149 (MQ=255) cgcAACCGCCATCGACTGCTCCGGATACGCTTTCGGTGCACGGAACGTCTTCTCGTGGTCGTTTTCGAAATAGAGCACTTTGTAAGAGTACACACCGCTGCTGCGCAGCTTACCGACAATCTCTACCGGTACGG‑‑‑‑T‑‑‑‑ACCGAGATCTTCAc < 1:366394/149‑1 (MQ=255) cGCCATCGACTGCTCCGGATACGCTTTCGGTGCACGGAACGTCTTCTCGTGGTCGTTTTCGAAATAGAGCACTTTGTAAGAGTACACACCGCTGCTGCGCAGCTTACCGACAATCTCTACCGGTACGG‑‑‑‑T‑‑‑‑ACCGAGATCTTCACCaacta > 1:621792/1‑146 (MQ=255) cATCGAGTGTGCCGGATACGCTTTCGGTGCACGGAACGTCTTCTCGTGGTCGTTTTCGAAATAGAGCACTTTGTAAGAGTACTCCCCGCTGCTGCGCAGCTTTTTTTTTTTCTCGACCCGGCGGC‑‑‑‑T‑‑‑‑ACCGAGATCTACACCAATCACCa < 2:434535/149‑1 (MQ=255) cATCGACTGCTCCGGATACGCTTTCGGTGCACGGAACGTCTTCTCGAGGTCGTTTTCGAAATAGAGCACTTTGTAAGAGTACAAAATGATCAGACCCACCTTACCGACAATCTCTACCGGTACGG‑‑‑‑T‑‑‑‑ACCGAGATCTTCACCAATccccc > 1:639063/1‑148 (MQ=255) tCCGGATACGCTTTCGGTGCACGGAACGTCTTCTCGTGGTCGTTTTCGAAATAGAGCACTTTGTAAGAGTACACACCGCTGCTGCGCAGCTTACCGACAATCTCTACCGGTACGG‑‑‑‑T‑‑‑‑ACCGAGATCTTCACCAATCACCATACAGCGATg < 1:27873/149‑1 (MQ=255) cGGATACGCTTTCGGTGCACGGAACGTCTTCTCGTGGTCGTTTTCGAAATAGAGCACTTTGTAAGAGTACACACCGCTCCTGCGCAGCTTACCGACAATCTCTACCGCTACGG‑‑‑‑T‑‑‑‑ACCGAGATCTTCACCAATCACCATACAGCGATGAc > 2:793721/1‑149 (MQ=255) gATACGCTTTCGGTGCACGGAACGTCTTCTCGTGGTCGTTTTCGAAATAGAGCACTTTGTAAGAGTACACACCGCTGCTGCGCAGCTTACCGACAATCTCTACCGGTACGG‑‑‑‑T‑‑‑‑ACCGAGATCTTCACCAATCACCATACAGCGATGACGt < 1:339310/149‑1 (MQ=255) tttCGGTGCACGGAACGTCTTCTCGTGGTCGTTTTCGAAATAGAGCACTTTGTAAGAGTACACACAGCTGCTGCGCAGCTTACCGACAATCTCTACCGGTAGGG‑‑‑‑T‑‑‑‑ACCGAGATCTTTAGCAATCACCATACTGCGATGACGTTTAGttt > 2:776830/1‑149 (MQ=255) ttCGGTGCAGGGAACGTCTTCTCGTGGTCGTTTTCGAAATAGAGCACTTTGTAAGAGTACACACCGCTGCTGCGCAGCTTTTTTTTTTTCATGATACGGCGGC‑‑‑‑C‑‑‑‑ACCGAGATCTACACCAATCACCATACAGCGATGACGTTTACTTTc < 2:825658/149‑1 (MQ=255) gAACGTCTTCTCTTGGTCGTTTTCGAAATAGAGCACTTTGTAAGAGTACACACTGCTGCTGCGCAGCTT‑‑‑‑TTTTTTTTTAATGATACGGCGACC‑‑‑‑ACCGAGATCTACACCAATCACCATACAGCGATGACGTTTACTTTCGAGTGCCAGaa < 2:174396/149‑1 (MQ=255) gTCTTCTCGTGGTCGTTTTCGAAATAGAGCACTTTGTAAGAGTACACACCGCTGCTGCGCAGCTTACCGACAATCTCTACCGGTACGG‑‑‑‑T‑‑‑‑ACCGAGATCTTCACCAATCACCATACATCGATGACGTTTACTTTCGAGTGCCAGAATCga < 1:405599/149‑1 (MQ=255) tcttctCGTGGTCGTTTTCGAAATAGAGCACTTTGTAAGAGTACACACAGCTGCTGCGCAGCTTACCGACAATCTCTACCGGTACGG‑‑‑‑T‑‑‑‑AACGAGATCTTCACCAATCACCATACAGCGATGACGTTTACTTTCGAATGCGAGGATCgag > 1:449283/1‑149 (MQ=255) tcttcgCGTGTGCGTTTTCGAGATAGAGCATTTTGTAAGAGTACACACCGCTGCTGCGCAGTTT‑‑‑‑TTTTTTTTTAATGATACGGCGACC‑‑‑‑ACCGAGATCTACACCAATCACCATACAGCGATGACGTTTACTTTCGAGTGCCAGAATCgag < 2:852402/149‑1 (MQ=255) ttctCGTGCTCCTTCTCGAAATAGAGAACTTTCTAAGAGTACACACCCCTGCTTCGCAGCTT‑‑‑‑TTTTTTTTTAATGATACGG‑‑‑‑CGACCACCGAGATCTACACCAATCACCATAAAGCGATGACGTTTACTTTCGAGTGCCAGAATCGagag < 2:279329/149‑1 (MQ=255) cGTGGTCGTTTTCGAAATAGAGCACTTTGTAAGAGTACACACCGCTGCTGCGCAGCTTACCGACAATCTCTACCGGTACGG‑‑‑‑T‑‑‑‑ACCGAGATCTTCACCAATCACCATACAGCGATGACGTTTACTTTCGAGTGCCAGAATCGAGAGCAGa < 2:590980/149‑1 (MQ=255) tCGTTTTCGAAATAGAGCACTTTGTAAGAGTACACACCGCTGCTGCGCAGCTTACCGACAATCTCTACCGGTACGG‑‑‑‑T‑‑‑‑ACCGAGATCTTCACCAATCACCATACAGCGATGACGTTTACTTTCGAGTGCCAGAATCGAGAGCAGatcatc < 1:660047/149‑1 (MQ=255) aaaTAGAGCACTTTGTAAGAGTACACACCGCTGCTGCGCAGCTTACCGACAATCTCTACCGGTACGG‑‑‑‑T‑‑‑‑ACCGAGATCTTCACCAATCACCATACAGCGATGACGTTTACTTTCGCGTGCCAGAATCGCGAGCACATCATCCCCCGGCTa > 1:245137/1‑149 (MQ=255) aaaTAGAGCACCTTGTAAGAGTACACACCGCTGCTGCGCAGCTTTCTGTTATTAATGACCGGTACGG‑‑‑‑C‑‑‑‑ACCGAGATCTTCACCAATCACCATACAGCGATGACGTTTACTTTCGAGTGCCAGAATCGAGAGCAGATCATCCACCGGATa < 2:496244/149‑1 (MQ=255) cTTTGTAAGAGTACACACCGCTGCTGCGCAGCTTACCGACAATCTCTACCGGTACGG‑‑‑‑T‑‑‑‑ACCGAGATCTTCACCAATCACCATACAGCGATGACGTTTACTTTCGAGTGCCAGAATCGAGAGCAGATCATCCACCGGATAGTGAACATAc > 1:191912/1‑149 (MQ=255) tAAGAGTACACACCGCTGCTGCGCAGCTTACCGACAATCTCTACCGGTACGG‑‑‑‑T‑‑‑‑ACCGAGATCTTCACCAATCACCATACAGCGATGACGTTTACTTTCGAGTGCCAGAATCGAGAGCAGATCATCCACCGGATAGTGAACATTCGCGcc < 2:191912/149‑1 (MQ=255) gTACACACCGCTGCTGCGCAGCTTACCGACAATCTCTACCGGTACGG‑‑‑‑T‑‑‑‑ACCGAGATCTTCACCAATCACCATACAGCGATGACGTTTACTTTCGAGTGCCAGAATCGAGAGCAGATCATCCACCGGATAGTGAACATACGCGCCCTGAt < 1:776830/149‑1 (MQ=255) acCGCTGCTGCGCAGCTTACCGACAATCTCTACCGGTACGG‑‑‑‑T‑‑‑‑ACCGAGATCTTCACCAATCACCATACAGCGATGACGTTTACTTTCGAGTGCCAGAATCGAGAGCAGATCATCCACCGGATAGTGAACATACGCGCCCTGATCTGCCg > 1:90224/1‑149 (MQ=255) acCGCTGCTGCGCAGCTTACCGACAATCTCTACCGGTACGG‑‑‑‑T‑‑‑‑ACCGAGATCTTCACCAATCACCATACAGCGATGACGTTTACTTTCGAGTGCCAGAATCGAGAGCAGATCATCCACCGGATAGTGAACATACGCGCCCTGATCTGCCg > 1:621250/1‑149 (MQ=255) ctgcGCAGCTCACCGACAATCTCTACCGGTACGG‑‑‑‑T‑‑‑‑ACCGAGATCTTCACCAATCACCATACAGCGATGACGTTTACTTTCGAGTGcc < 1:86878/87‑1 (MQ=255) ctgcGCAGCTCACCGACAATCTCTACCGGTACGG‑‑‑‑T‑‑‑‑ACCGAGATCTTCACCAATCACCATACAGCGATGACGTTTACTTTCGAGTGcc > 2:86878/1‑87 (MQ=255) aGCTTACCGACAATCTCTACCGGTACGG‑‑‑‑T‑‑‑‑ACCGAGATCTTCACCAATCACCATACAGCGATGACGTTTACTTTCGAGTGCCAGAATCGAGAGCAGATCATCCACCGGATAGTGAACATACGCCCCCTGATCTGCCGCCCCCCCATACgg > 2:224628/1‑149 (MQ=255) | CCAGTAACCGCGCAGCGTTGGCAGGTCATGTGTCGCCGCAACCGCCATCGACTGCTCCGGATACGCTTTCGGTGCACGGAACGTCTTCTCGTGGTCGTTTTCGAAATAGAGCACTTTGTAAGAGTACACACCGCTGCTGCGCAGCTTACCGACAATCTCTACCGGTACGG‑‑‑‑T‑‑‑‑ACCGAGATCTTCACCAATCACCATACAGCGATGACGTTTACTTTCGAGTGCCAGAATCGAGAGCAGATCATCCACCGGATAGTGAACATACGCGCCCTGATCTGCCGTCTCGCCATACGG > NC_000913_3_hsa_tpiA/3548403‑3548693 |
Alignment Legend |
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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: ‑ |
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. |