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	92.9%	35.6 / ‑6.1	14	T18I (ACC→ATC)	insH1	IS5 transposase and trans‑activator
Reads supporting (aligned to +/- strand):  ref base G (0/0);  major base A (10/3);  minor base T (0/1);  total (10/4)
Fisher's exact test for biased strand distribution p-value = 2.86e-01
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 1.00e+00

GACAAGAAAATCTCTTTTCTGGTCTGACGGCGCTTACTGCTGAATTCACTGTCGGCGAAGGTAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAGGCGTTATGAGCTGGCGGCCCTTTTTGTATCTGATTATTAATCCCCACCC  >  NC_000913_3_hsa_tpiA/275005‑275202                                                             |                                                                                                                                          gACAAGAAAATCTCTTTTCTGGTCTGACGGCGCTTACTGCTGAATTCACTGTCGGCGAAGATAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAg                                                   >  1:392414/1‑149 (MQ=17)       aaaaTCTCTTTTCTGGTCTGACGGCGCTTACTGCTGAATTCACTGTCGGCGAAGATAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAGGCGTTa                                             >  1:41025/1‑149 (MQ=38)            ctctTTTCTGGTCTGACGGCGCTTACTGCTGAATTCACTGTCGGCGAAGATAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCCCACCTTCCGGAGGCGTTATGAGc                                        >  2:10504/1‑149 (MQ=255)                tttCTGGTCTGACGGCGCTTACTGCTGAATTCACTGTCGGCGAAGATAAGTTGATGACTCAAGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAGGCGTTATGAGCTggc                                    >  1:505242/1‑149 (MQ=255)                         tgcaggCGCTTACTGTTGAATTCACTGTCGCAGACGATAACTTGATGACTCAGCATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCCCATATCAGGGACTTGTTCGCACCTTCCGGAGGCGTTATGAGCTGGCGGCCCtttt                           <  2:177130/145‑1 (MQ=17)                          gACGGCGCTTACTGCTGAATTCACTGTCGGCGAAGATAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAGGCGTTATGAGCTGGCGGCCCttttt                          <  2:392414/149‑1 (MQ=255)                             ggCGCTTACTGCTGAATTCACTGTCGGCGAAGATAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAGGCGTTATGAGCTGGCGGCCCTTTTTGTa                       >  1:314300/1‑149 (MQ=255)                                      tgctgAATTCACTGTCGGCGAAGATCAGTTGATGACTCATGATGAACCCTGTTCTCTGGCTCCAGATGACAAACATGATCTCCTATCAGGGACTTGTTCGCACCTTCAGTAGGCGTTATGAGCTCGCGGCCCTTTTTGTATCTGattat              >  2:490520/1‑149 (MQ=17)                                      tgctgAATTCACTGTCGGCGAAGATAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAGGCGTTATGAGCTGGCGGCCCTTTTTGTATCTGattat              >  2:43962/1‑149 (MQ=255)                                       gctgAATTCACTGTCGGCGAAGATAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAGGCGTTATGAGCTGGCGGCCCTTTTTGTATCTGattatt             <  1:208481/149‑1 (MQ=255)                                              tCACTGTCGGCGAAGATAAGTTGATGACTCATGATGAACCCTGTTCTATGTCTCCAGATGACAAACATGATATCATATCAGGGACTTTTTCGCACCTTCCGGAGGCGTTATGAGCTGGCGGCCCTTTTTGTATCTGATTATTAATcccc      >  1:385622/1‑149 (MQ=255)                                                aCTGTCGGCGAAGATAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAGGCGTTATGAGCTGGCGGCCCTTTTTGTATCTGATTATTAATCCCCAc    >  2:165884/1‑149 (MQ=255)                                                aCTGTCGGCGAAGATAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAGGCGTTATGAGCTGGCGGCCCTTTTTGTATCTGATTATTAATCCCCAc    >  2:167710/1‑149 (MQ=255)                                                  tGTCGGCGAAGTTAAGTTGATGACTTATGATGATCCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAGGCGTTATGAGCTGGCGGCCCTTTTTGTATCTGATTATTAATCCCCAccc  <  1:338836/149‑1 (MQ=255)                                                             |                                                                                                                                          GACAAGAAAATCTCTTTTCTGGTCTGACGGCGCTTACTGCTGAATTCACTGTCGGCGAAGGTAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAGGCGTTATGAGCTGGCGGCCCTTTTTGTATCTGATTATTAATCCCCACCC  >  NC_000913_3_hsa_tpiA/275005‑275202

Alignment Legend
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 22 ≤ ATCG/ATCG < 37 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG
Unaligned base: atcg    Masked matching base: atcg    Alignment gap: ‑    Deleted base: ‑