Predicted mutation
evidence	seq id	position	mutation	annotation	gene	description
RA	NC_000913_3_hsa_tpiA	4,604,698	C→A	A186E (GCA→GAA)	bglJ →	bgl operon transcriptional activator

Read alignment evidence...
	seq id	position		ref	new	freq	score (cons/poly)	reads	annotation	genes	product
*	NC_000913_3_hsa_tpiA	4,604,698	0	C	A	93.8%	84.2 / NA	32	A186E (GCA→GAA)	bglJ	bgl operon transcriptional activator
Reads supporting (aligned to +/- strand):  ref base C (2/0);  new base A (18/12);  total (20/12)
Fisher's exact test for biased strand distribution p-value = 5.16e-01
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.96e-01

GACCGACTGAACAATCAGTGGTACATTAACCAAAGCCGGACGTTAAGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGCACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAG‑GGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGAAACAAGTAATGTGTTGCATCCCTATTAATCCGCATGATGCCGGGTTTA  >  NC_000913_3_hsa_tpiA/4604556‑4604839                                                                                                                                               |                                                                                                                                               gaccgacTGAACAATCAGTGGTACATTAACCAAAGCCGGACGTTAAGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATaa                                                                                                                                          >  2:450261/1‑149 (MQ=255)     gacTGAACAATCAGTGGTACATTAACCACAGCCGGACGATAAGCCCGACGGAGAGAGAAGTATTGCGCTCTATTTCCCGTGCCAACACGAGGACACAAAATCCCAGGCAGCTTGAGCGGAATAACAAGAGGATCCGCACAAATAAAttt                                                                                                                                      >  2:458006/1‑149 (MQ=255)        tGAACAATCAGTGGTACATTAACCAAAGCCGGACGTTAAGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGAGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAAt                                                                                                                                   <  2:551528/149‑1 (MQ=255)        tGAACAATCAGTGGTACACTAACCCAAGCCGTTCGTTACGCCCGACGCAGAGAGAAATATTGCGCTTTATGTCGCCTGGCTACTCAATGACACAAACTCACGACCAGCTTAAACGCAACATCACAACGATCCGCGAACATCAGTTTCAt                                                                                                                                   >  2:70284/1‑149 (MQ=255)             aaTCAGTGGTACATTAACCAAAGCCGGACGTTAAGCCCGACGGAGAGAGAAATATTTCGCTTTATGTCGCGTGGCGACTCAATGACACAAATTGCCGAGCAGCTTAAACGCCCTATCAAAACGATCCGTGCAAATAATTTTAATGTTAt                                                                                                                              >  2:274336/1‑149 (MQ=255)             aaTCAGTGGTACATTAACCAAAGCCGGACGTTAAGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGAt                                                                                                                              >  1:405074/1‑149 (MQ=255)              aTCAGTGGTACATTAACCAAAGCCGGACGTTAAGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATg                                                                                                                             >  1:271633/1‑149 (MQ=255)                               cagaggcGGACGTTAAGGCCGAGGGAGAGAGAAATATTGCGCTTTATGTCGCGTCGCTACTCAAAGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGCTCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAg                                                                                                            <  1:202479/143‑1 (MQ=255)                                 aaGCCGGACGTTAAGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATCTGATGTCCAAACTGGGCGTCACtt                                                                                                          >  2:258698/1‑149 (MQ=255)                                     cGGACGTTAAGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGa                                                                                                      <  1:356084/149‑1 (MQ=255)                                      ggACGTTAAGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGAc                                                                                                     <  1:325958/149‑1 (MQ=255)                                      ggACGTTAAGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGAc                                                                                                     >  2:119319/1‑149 (MQ=255)                                           ttAAGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAg‑g                                                                                               <  2:271633/149‑1 (MQ=255)                                                cccGACGCAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCGGCTTAAACGCAATATCAAAACGCTCTGTGAACATGAATTTGATGTGGGGTAGAACGTGGGCGGCAGTTCTGACGCAG‑Gggtgt                                                                                          >  2:212440/1‑149 (MQ=255)                                                        agagagaAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAG‑GGTTGTTGGGGGcc                                                                                  >  1:154722/1‑149 (MQ=255)                                                            agaAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAG‑GGTTGTTGGAGGCCGCAg                                                                              >  1:336500/1‑149 (MQ=255)                                                             gaAATCTGGCGCTTGATGGCGCGTGGTCACTCAATGACACAAATTGCCGCGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAG‑GGTTGTTGGAGGCCGCAGa                                                                             <  1:255514/149‑1 (MQ=255)                                                             gaAATATTGCGCTTTATGTCTCGAGGCTACCTAATGACAAAATTTGCCGAGCAGCTTAAACGCAATATCAAAACGACCCGTGAACATAAATTTGATGTTATGTCGAAACTGGGCGTCAGTTCTGACGCAG‑GGTTGTTGGAGGCCGCAGa                                                                             <  2:532974/149‑1 (MQ=255)                                                                       gcTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCCCA‑GCGGTGGTTGTTGGAGGCCGCAGATATTCTGTta                                                                   <  1:450758/149‑1 (MQ=255)                                                                         tttATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTCCTCCTGCAT‑GGTTGTTGGAGGCCGCAGATATTCTGTtatg                                                                 <  1:450261/149‑1 (MQ=255)                                                                         tttATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTAATGTCGAAACTGAGCGTCAGTTCTGACACAG‑GGTTGATGGAGGCCGCAGATATACTGTtatg                                                                 >  2:287168/1‑149 (MQ=255)                                                                               tCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAG‑GGTTGGTGAGGGCCGCCGATATTCCGTTATGTCTGcc                                                           >  2:170451/1‑148 (MQ=255)                                                                                        tACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGCTCTGACGCAG‑GGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGa                                                  >  1:82091/1‑149 (MQ=255)                                                                                                   acaAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAG‑GGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGAAACAAGTAAtg                                       >  1:207707/1‑149 (MQ=255)                                                                                                            cGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAG‑GGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGAAACAAGTAATGCGTTGCATc                              >  1:74808/1‑149 (MQ=255)                                                                                                                cagcTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAG‑GGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGAAACAAGTAATGTGTTGCATCCCTa                          <  1:287168/149‑1 (MQ=255)                                                                                                                   cTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAG‑GGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGAAACAAGTAATGTGTTGCATCCCTATTa                       >  1:96163/1‑149 (MQ=255)                                                                                                                     tAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAG‑GGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGAAACAAGTAATGTGTTGCATCCCTATTAAt                     >  1:60870/1‑149 (MQ=255)                                                                                                                                tCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAG‑GGTTGTTGGAGGCCGCAGATATTCTGTTATGTCTGCGGCATTGCGAAACAAGTAATGTGTTGCATCCCTATTAATCCGCATGATGc          >  1:123871/1‑149 (MQ=255)                                                                                                                                  aaaaCGATCCGTGAACATAAATTTAATCTGAGGCCAAAACTGGGCGTCAGTTCTGAAGCAG‑GGTTGTTGGAGGCCGCAAAAATACTCTTATGTACACGGCATTGCGAACCAAGTAACGCGTTGCATCCATGTTAATCAGCATGCTGccc        >  2:392355/1‑148 (MQ=255)                                                                                                                                     aCGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAG‑GGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGAAACAAGTAATGTGTTGCATCCCTATTAATCCGCATGATGCCGGGt     <  1:536335/149‑1 (MQ=255)                                                                                                                                        ctCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAG‑GGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGAAACAAGTAATGTGTTGCATCCCTATTAATCCGCATGATGCCGGGTTTa  <  2:58517/148‑1 (MQ=255)                                                                                                                                               |                                                                                                                                               GACCGACTGAACAATCAGTGGTACATTAACCAAAGCCGGACGTTAAGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGCACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAG‑GGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGAAACAAGTAATGTGTTGCATCCCTATTAATCCGCATGATGCCGGGTTTA  >  NC_000913_3_hsa_tpiA/4604556‑4604839

Alignment Legend
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: ‑