Predicted mutation
evidence	seq id	position	mutation	annotation	gene	description
RA	NC_000913_3_hsa_tpiA	275,065	G→A	T18I (ACC→ATC)	insH1 ←	IS5 transposase and trans‑activator

Read alignment evidence...
	seq id	position		ref	new	freq	score (cons/poly)	reads	annotation	genes	product
*	NC_000913_3_hsa_tpiA	275,065	0	G	A	100.0%	50.7 / NA	19	T18I (ACC→ATC)	insH1	IS5 transposase and trans‑activator
Reads supporting (aligned to +/- strand):  ref base G (0/0);  new base A (11/8);  total (11/8)

CGGGACAAGAAAATCTCTTTTCTGGTCTGACGGCGCTTACTGCTGAATTCACTGTCGGCGAAGGTAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAGGCGTTATGAGCTGGCGGCCCTTTTTGTATCTGATTATTAATCCCCACCCGCTATTAA  >  NC_000913_3_hsa_tpiA/275002‑275210                                                                |                                                                                                                                                  cGGGACAAGAAAATCTCTTTTCTGGTCTGACGGCGCTTACTGCTGAATTCACTGTCGGCGAAGATAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCg                                                              <  2:414445/149‑1 (MQ=11)   ggACAAGAAAATCTCTTTTCTGGTCTGACGGCGCTTACTGCTGAATTCACTGTCGGCGAAGATAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGa                                                            <  1:603767/149‑1 (MQ=17)   ggACAAGAAAATCTCTTTTCTAGTCTGACGGCGCGTACTGCTGAATTCACTGTCGGCGAAGATAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCCCCCCTTCCGGa                                                            >  2:651260/1‑149 (MQ=11)           aaaTCTCTTTTCTGGTCTGACGGCGCTTACTGCTGAATTCACTGTCGGCGAAGATAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAGGCGTTAt                                                    <  1:591385/149‑1 (MQ=255)              tctcTTTTCTGGTCTGACGGCGCTTACTGCTGAATTCACTGTCGGCGAAGATAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAGGCGTTATGAg                                                 <  2:153959/149‑1 (MQ=255)                         gTCTGACGGCGCTTACTGCTGAATTCACTGTCGGCGAAGATAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTAGCACCTTCCGGAGGCGTTATGAGCTGGCGGCCCt                                      >  1:676661/1‑149 (MQ=255)                           cTGACGGCGCTTACTGCTGAATTCACTGTCGGCGAAGATAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAGGCGTTATGAGCTGGCGGCCCttt                                    <  2:254272/149‑1 (MQ=255)                                   gcTTACTGCTGAATTCACTGTCGGCGAAGATAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAGCATGATCTCATATCAGGAACTTGTTCGCACCTTCCGGAGGCGGTATGAGCTGGCGGCCCTTTTTGTATCt                            >  1:680366/1‑149 (MQ=255)                                     ttAGTGCTGAGTTCACTGGCCGCGAATATAAGCTGCTGCGTGAAGCTGAACCCGCTTCTATCGCTCTAGATGACACACATGATCTCATATCAGGGACTTCTTCGCACCCTCCGGAGGCGTTATGGGCTGGCGGCCCTTTTTGTACCTgg                          <  2:563674/149‑2 (MQ=12)                                         tgctgAATTCACTGTCGGCGAAGATAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAg                                                           >  1:335026/1‑112 (MQ=18)                                         tgctgAATTCACTGTCGGCGAAGATAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAg                                                           <  2:335026/112‑1 (MQ=18)                                         tgctgAATTCACTGTCGGCGAAGATAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAGGCGTTATGAGCTGGCGGCCCTTTTTGTATCTGattat                      >  2:199562/1‑149 (MQ=255)                                         tgctgAATTCACTGTCGGCGAAGATAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAGGCGTTATGAGCTGGCGGCCCTTTTTGTATCTGattat                      >  2:666101/1‑149 (MQ=255)                                         tgctgAATTCACTGTCGGCGAAGATAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAGGCGTTATGAGCTGGCGGCCCTTTTTGTATCTGattat                      >  2:665570/1‑149 (MQ=255)                                         tgctgAATTCACTGTCGGCGAAGATAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAGGCGGTATGAGGTGGCGGCCCTTTTTGTATCTGcttat                      >  2:230618/1‑149 (MQ=255)                                                          gCGAAGATGAGTTGATGACTCATGATGAACCCTGTTCTATGGAACTAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAGGCGTTATGAGCTGGCGGCCCTTTTTGTCTCTGAGTATTAATCACCACCCGCTAt     >  1:107228/1‑149 (MQ=21)                                                           cGAAGATAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTTATATCATTGACTTGTTCGCACCTTCCGGAGGCGTTATGAGCTGGCGGCCCTTTTTGTATCTGATTATTACTCCCCACCCGCTAtc    <  2:107228/149‑2 (MQ=21)                                                            gAAGATAAGTTGATGACTCATGGTGAACCCTGTTCTATGGCTCCAGATGACAAACATGAGCTCATATCAGGGACTTGTTCGCACCTTCCGGAGGCGTTATGGGCTGGCGGCCCTTTTTGTATCGGATGATTAATCCCCCCCCGCTGTTa   >  1:101061/1‑149 (MQ=18)                                                             aaGATAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAGGCGTTATGAGCTGGCGGCCCTTTTTGTATCTGATTATTAATCCCCACCCGCTATTaa  >  2:386761/1‑149 (MQ=255)                                                                |                                                                                                                                                  CGGGACAAGAAAATCTCTTTTCTGGTCTGACGGCGCTTACTGCTGAATTCACTGTCGGCGAAGGTAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAGGCGTTATGAGCTGGCGGCCCTTTTTGTATCTGATTATTAATCCCCACCCGCTATTAA  >  NC_000913_3_hsa_tpiA/275002‑275210

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: ‑