Predicted mutation
evidence	seq id	position	mutation	annotation	gene	description
RA	NC_000913_3_hsa_tpiA	1,755,902	G→C	G69R (GGT→CGT)	pykF →	pyruvate kinase I

Read alignment evidence...
	seq id	position		ref	new	freq	score (cons/poly)	reads	annotation	genes	product
*	NC_000913_3_hsa_tpiA	1,755,902	0	G	C	97.9%	155.6 / NA	48	G69R (GGT→CGT)	pykF	pyruvate kinase I
Reads supporting (aligned to +/- strand):  ref base G (0/0);  major base C (20/27);  minor base A (0/1);  total (20/28)
Fisher's exact test for biased strand distribution p-value = 1.00e+00
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 1.00e+00

TAAAATGCTGGACGCTGGCATGAACGTTATGCGTCTGAACTTCTCTCATGGTGACTATGCAGAACACGGTCAGCGCATTCAGAATCTGCGCAACGTGATGAGCAAAACTGGTAAAACCGCCGCTATCCTGCTTGATACCAAAGGTCCGGAAATCCGCACCATGAAACTGGAAGGCGGTAACGACGTTTCTCTGAAAGCTGGTCAGACCTTTACTTTCACCACTGATAAATCTGTTATCGGCAACAGCGAAATGGTTGCGGTAACGTATGAAGGTTTCACTACTGAC  >  NC_000913_3_hsa_tpiA/1755760‑1756045                                                                                                                                               |                                                                                                                                                tAAAATGCTGGACGCTGGCATGAACGTTATGCGTCTGAACTTCTCTCATGGTGACTATGCAGAACACGGTCAGCGCATTCAGAATCTGCGCAACGTGATGAGCAAAACTGGTAAAACCGCCGCTATCCTGCTTGATACCAAACGTCCgg                                                                                                                                           >  2:201908/1‑149 (MQ=255)  aaaaTGCTGGACGCTGGCATGAACGTTATGCGTCTGAACTTCCCTCATGGTGACTATGCAGAACACGGTCAGCGCATTCAGAATCTGCGCAACGTGATGAGCAAAACTGGTAAAACCGCCGCTATCCTGCTTGAGACCAAACGTCCGGa                                                                                                                                          <  2:577335/149‑1 (MQ=255)      tGCTGGACGCTGGTATGAACGTTATGCGTCTGAACTTCTCTCATGGTGACTATGCAGAACACGGTCAGCGCATTCAGAATCTGCGCAACGTGATGAGCAAAACTGGTAAAACCGCCGCTATCCTGCTTGATACCAAACGTCCGGAAATc                                                                                                                                      <  1:665237/149‑1 (MQ=255)                  gCATAAACGTGAAGTGTCGGAACTTTTCTCATGGAGACCATCCAGAAGGTCTTCAGCGCATTCAGAATCTGCGCAACGTGATGAGCAAAACTGTTAAAACCGCCGCTATCCTGCTTGATACCAAACGTCCGGAAATCCGCACCATGaaa                                                                                                                          <  1:636018/149‑1 (MQ=255)                       aaCGTTATGCGTCTGAACTTCTCTCATGGTGACTATGCAGAACACGGTCAGCGCATTCAGAATCTGCGCAACGTGATGAGCAAAACTGGTAAAACCGCCGCTATCCTGCTTGATACCAAACGTCCGGAAATCCGCACCATGAAACTGGa                                                                                                                     <  1:628375/149‑1 (MQ=255)                        atgTTATGCGTCTGAACTCCTCTCATGGTGACAATGCAGAACACGGTCAGCGCATTCAGAATCTGCGCAACGTGATGAGCAAAACTGGTAAAACCGCCGCTATCCTGCTTGATACCAAACGTCCGGAAATCCGCACCATGAAACTGGaa                                                                                                                    <  2:700431/147‑1 (MQ=255)                         cGTTATGCGTCTGAACTTCTCTCATGGTGACTATGCAGAACACGGTCAGCGCATTCAGAATCTTCGCAACGTGATGAGCAAAACTGGTAAAACCGCCGCTATCCTGCTTGATACCAAACGTCCGGAAATCCGCACCATGAAACTGGAAg                                                                                                                   <  1:640864/149‑1 (MQ=255)                          gTTATGCGTCTGAACTTCTCTCATGGTCACCATGCAGAACACGGTCAGCGCATTCAGAATCTGCGCAACGTGATGAGCAAAACTGGTAAAACCGCCGCTATCCTGCTTGATACCAAACGTCCGGAAATCCGCACCATGAAACTGGAAgg                                                                                                                  <  1:629667/149‑1 (MQ=255)                            tATGCGTCTGAATTTTACTCAGGGTGACTATGAAGAACACGGTCAGCGCATTCAGAATCTGCGCAACGTGATGAGCAAAACTGGTAAAACCGCCGCTATCCTGCTTGATACCAAACGTCCGGAAATCCGCACCATGAAACTGGAAGGCg                                                                                                                <  2:533568/149‑1 (MQ=255)                              tGCGTCTGAACTTCTCTCATGGTGACTATGCAGAACACGGTCAGCGCATTCAGAATCTGCGCAACGTGATGAGCAAAACTGGTAAAACCGCCGCTATCCTGCTTGATACCAAACGTCCGGAAATCCGCACCATGAAACTGGAAGGCGGt                                                                                                              <  1:201908/149‑1 (MQ=255)                                 gTCTGAACTTCTCTCATGGTGACTATGCAGAACACGGTCAGCGCATTCAGAATCTGCGCAACGTGATAAACAAAACTGGTAAAACAGCCGCTATCCTGCTTGCTACCAAACGTCCGGAAATCCGCACCATGAAACTGGAAGGCGGTAac                                                                                                           >  2:358375/1‑149 (MQ=255)                                   cTGAACTTCTCTCATGGTGACTATGCAGAACACGGTCAGCGCATTCAGAATCTGCGCAACGTGATGAGCAAAACTGGTAAAACCGCCGCTATCCTGCTTGATACCAAACGTCCGGAAATCCGCACCATGAAACTGGAAGGCGGTAacga                                                                                                         <  1:576911/149‑1 (MQ=255)                                      aaCTTCTCTCATGGTGACTATGCAGAACACGGTCAGCGCATTCAGAATCTGCGCAACGTGATGAGCAAAACTGGTAAAACCGCCGCTATCCTGCTTGATACCAAACGTCCGGAAATCCGCACCATGAAACTGGAAGGCGGTAACGACGt                                                                                                      >  1:532467/1‑149 (MQ=255)                                         ttCTCTCATGGTGACTATGCAGAACACGGTCAGCGCATTCAGAATCTGCGCAACGTGATGAGCAAAACTGGTAAAACCGCCGCTATCCTGCTTGATACCAAACGTCCGGAAATCCGCACCATGAAACTGGAAGGCGGTAACGACGTTtc                                                                                                   >  1:521441/1‑149 (MQ=255)                                              tcATGGTGACTATGCAGAACACGGTCAGCGCATTCAGAATCTGCGCAACGTGATGAGCAAAACTGGTAAAACCGCCGCTATCCTGCTTGATACCAAACGTCCGGAAATCCGCACCATGAAACTGGAAGGCGGTAACGACGTTTCTCTGa                                                                                              >  1:456152/1‑149 (MQ=255)                                                aTGGTGACTATGCAGAACACGGTCAGCGCATTCAGAATCTGCGCAACGTGATGAGCAAAACTGGTAAAACCGCCGCTATCCTGCTTGATACCAAACGTCCGGAAATCCGCACCATGAAACTGGAAGGCGGTAACGACGTTTCTCTGaaa                                                                                            <  1:78226/149‑1 (MQ=255)                                                  ggcggcTATGCAGAGCACGGTCTGTGCATTCGCTAGCAGGCCACCGGGATGAGCAAAACTGGTAAAGCCGCCGCTATCCAGCTTGATACCACACGTCCGGCAACCCGCACCATGAAACTGGAAGGCGGTAACGACGTTTCTCTGAAAGc                                                                                          <  2:672626/144‑1 (MQ=255)                                                           gCAGAACACGGTCAGCGCATTCAGAATCTGCCCAACGTGATGAGCAAAACTGGTAAAACCGCCGCTATCCTGCTTGATACCAAACGTCCGGAAATCCCCACCATGAAACTGGAAGGCGGTAACGACGTTTCTCTGAAAGCTGGTCAGAc                                                                                 <  2:301106/149‑1 (MQ=255)                                                                  acGGTCAGCGCATTCAGAATCTGCGCAACGTGATGAGCAAAACTGGTAAAACCGCCGCTATCCTGCTTGATACCAAACGTCCGGAAATCCGCACCATGAAACTGGAAGGCGGTAACGACGTTTCTCTGAAAGCTGGTCAGACCTTTa                                                                            >  2:323545/1‑147 (MQ=255)                                                                  acGGTCAGCGCATTCAGAATCTGCGCAACGTGATGAGCAAAACTGGTAAAACCGCCGCTATCCTGCTTGATACCAAACGTCCGGAAATCCGCACCATGAAACTGGAAGGCGGTAACGACGTTTCTCTGAAAGCTGGTCAGACCTTTa                                                                            <  1:323545/147‑1 (MQ=255)                                                                      tCAGCGCATTCAGAATCTGCGCAACGTGATGAGCAAAACTGGTAAAACCGCCGCTATCCTGCTTGATACCAAACGTCCGGAAATCCGCACCATGAAACTGGAAGGCGGTAACGACGTTTCTCTGAAAGCTGGTCAGACCTTTACTTTca                                                                      >  2:384751/1‑149 (MQ=255)                                                                       cAGCGCATTCAGAATCTGCGCAACGTGATGAGCAAAACTGGTAAAACCGCCGCTATCCTGCTTGATACCAAACGTCCGGAAATCCGCACCATGAAACTGGAAGGCGGTAACGACGTTTCTCTGAAAGCTGGTCAGACCTTTACTTTcac                                                                     <  2:532467/149‑1 (MQ=255)                                                                                          gcAACGTGATGAGCAAAACTGGTAAAACCGCCGCTATCCTGCTTGATACCAAACGTCCGGAAATCCGCACCATGAAACTGGAAGGCGGTAACGACGTTTCTCTGAAAGCTGGTCAGACCTTTCCTTTCACCACTGATAAATCTGTTATc                                                  >  1:631003/1‑149 (MQ=255)                                                                                          gcAACGTGATGAGCAAAACTGGTAAAACCGCCGCTATCCTGCTTGATACCAAACGTCCGGAAATCCGCACCATGAAACTGGAAGGCGGTAACGACGTTTCTCTGAAAGCTGGTCAGACCTTTACTTTCACCAATGAGAAATCTGTTATc                                                  >  1:274741/1‑149 (MQ=255)                                                                                               gtaatgaGCAAAACTGGCAAAACCGCCGCTATCCTGCTTGATACCAAACGTCCGGAAATCCGCACCATGAAACTGGAAGGCGGTAACGACGTTTCTCTGAAAGCTGGTCAGACCTTTACTTTCACCACTGATAAATCTGTTATCGGCaa                                             <  2:568052/146‑1 (MQ=255)                                                                                                tgatgaGCAAAACTGGTAAAACCGCCGCTATCCTGCTTGATACCAAACGTCCGGAAATCCGCACCATGAAACTGGAAGGCGGTAACGACGTTTCTCTGAAAGCTGGTCAGACCTTGACTTTCACCACTGATAAATCTGTTATCggaagc                                            >  2:391100/1‑145 (MQ=255)                                                                                                  atgaGCAAAACTGGTAAAACCGCCGCTATCCTGCTTGATACCAAACGTCCGGAAATCCGCACCATGAAACTGGAAGGCGGTAACGACGTTTCTCTGAAAGCTGGTCAGACCTTTACTTTCACCACTGATAAATCTGTTATCGGCAACAg                                          >  2:247472/1‑149 (MQ=255)                                                                                                   tgaGCAAAACTGGTAAAACCGCCGCTATCCTGCTTGATACCAAACGTCCGGAAATCCGCACCATGAAACTGGAAGGCGGTAACGACGTTTCTCTGAAAGCTGGTCAGACCttt                                                                             <  2:162624/113‑1 (MQ=255)                                                                                                   tgaGCAAAACTGGTAAAACCGCCGCTATCCTGCTTGATACCAAACGTCCGGAAATCCGCACCATGAAACTGGAAGGCGGTAACGACGTTTCTCTGAAAGCTGGTCAGACCttt                                                                             >  1:162624/1‑113 (MQ=255)                                                                                                     aGCAAAACTGGTAAAACCGCCGCTATCCTGCTTGATACCAAACGTCCGGAAATCCGCACCATGAAACTGGAAGGCGGTAACGACGTTTCTCTGAAAGCTGGTCAGACCTTTACTTTCACCACTGATAAATCTGTTATCGGCAACAGCGa                                       >  2:416950/1‑149 (MQ=255)                                                                                                            cTGGTAAAACCGCCGCTATCCTGCTTGATACCAAACGTCAGGAAATCCGCACCATGAAACTGGAAGGCGGTAACGACGTTTCTCTGAAAGCTGGTCAGACCTTTACTTTCACCACTGATAAATCTGTTATCGGCAACAGCGAAATGGtt                                >  1:285592/1‑149 (MQ=255)                                                                                                                tAAAACCGCCGCTATCCTGCTTGATACCAAACGTCCGGAAATCCGCACCATGAAACTGGAAGGCg                                                                                                                <  2:234866/65‑1 (MQ=255)                                                                                                                tAAAACCGCCGCTATCCTGCTTGATACCAAACGTCCGGAAATCCGCACCATGAAACTGGAAGGCg                                                                                                                >  1:234866/1‑65 (MQ=255)                                                                                                                  aaaCCGCCGCTATCCTGCTTGATACCAAACGTACGGAAATCCGCACCATGAAACTGGAAGGCGGTAACGACGTTTCTCTGAAAGCTAGTCAGACCTTTACTTTCACCACTGATCAATCGGTTATCGGCAACAGCGAAATGTTTGCGATa                          >  2:324577/1‑149 (MQ=255)                                                                                                                    aCCGTCTCTATCCTGCTTTATACCAAACGTTCGGAAATCCTCACCATGAAACTGGAAGGCGGTAACGACGTTTCTCTGAAAGCTGGTCATACCTTTACTTTCACCACTGATAAATCTGTTATCGGCAACAGCGAAATGGTTGCGGTAAc                        <  1:331857/149‑1 (MQ=255)                                                                                                                    aCCGCCGCTATCCTGCTTGATACCAAACGTCCGGAAATCCGCACCATGAAACTGGAAGGCGGTAACGACGTTTCTCTGAAAGCTGGTCAGACCTTTACTTTCACCACTGATAAATCTGTTATCGGCAACAGCGAAATGGTTGCGGTAAc                        <  1:443081/149‑1 (MQ=255)                                                                                                                     ccgccgCTATCCTGCTTGATACCAAACGTCCGGAAATCCGCACCATGAAACTGGAAGGCGGTAACGACGTTTCTCTGAAAGCTGGTCAGACCTTTACTTTCACCACTGATAAATCTGTTATCGGCAACAGCGAAATGGTTGCGGTAACg                       >  1:644706/1‑149 (MQ=255)                                                                                                                      cgccgcTCTTCGGCTTGAGTCCAAACGTCCGGGAATCCGCACCATGAAACTGGAAGGCGGTAACGACGTTTCTCTGAAAGCTGGTCAGACCTTTACTTTCACCACTGATAAATCTGTTATCGGCAACAGCGAAATGGTTGCGGTAACGt                      <  1:688176/149‑1 (MQ=255)                                                                                                                       gccgcTATCCTGCTTGATACCAAACGTCCGGAAATCCGCACCATGAAACTGGAAGGCGGTAACGACGTTTCTCTGAAAGCTGGTCAGACCTTTACTTTCACCACTGATAAATCTGTTATCGGCAACAGCGAAATGGTTGCGGTAACGTa                     >  1:109786/1‑149 (MQ=255)                                                                                                                          gcTATCCTGCTTGATACCAAACGTCCGGAAATCCGCACCATGAAACTGGAAGGCGGTAACGACGTTTCTCTGAAAGCTGGTCAGACCTTTACTTTCACCACTGATAAATCTGTTATCGGCAACAGCGAAATGGTTGCGGTAACGTATGa                  <  2:644706/149‑1 (MQ=255)                                                                                                                            tATCCTGCTTGATACCAAACGTCCGGAAATCCGCACCATGAAACTGGAAGGCGGTAACGACGTTTCTCTGAAAGCTGGTCAGACCTTTACTTTCACCACTGATAAATCTGTTATCGGCAACAGCGAAATGGTTGCGGTAACGTATGAAg                <  1:247472/149‑1 (MQ=255)                                                                                                                                cTGCTTGATACCCAAAGTCCGGAAATCCGCACCATGAAACGGGAAGGCGGTAACTACGTTTCTCTGAAAGCTGGTCACACCATTACTTTCACCACTGATAAACCTGTTATCGGCAACAGCGAAATGGTTGCGGTAACGTATGAAGGttt            <  2:376804/149‑1 (MQ=255)                                                                                                                                cTGCTTGATACCAACCTTCCGGAAATCCGCACCATGAAACTGGAAGGCGGTAACGACGTTTCTCTGAAAGCTGGTCAGACCTTTACTTTCACCACTGATAAATCTGTTATCGGCAACAGCGAAATGGTTGCGGTAACGTATGAAGGttt            <  1:632829/149‑1 (MQ=255)                                                                                                                                cTGCTTGATACCAAACGTCCGGAAATCCGCACCATGAAACTGGAAGGCGGTAACGACGTTTCTCTGAAAGCTGGTCAGACCTTTACTTTCACCACTGATAAGTCTGTTATCGGCACACGCGAAATGATTGCGGTAACGTATGTAGGttt            >  2:279730/1‑149 (MQ=255)                                                                                                                                cTGCTTGATACCAAACGTCCGGAAATCCGCACCATGAAACTGGAAGGCGGTAACGACGTTTCTCTGAAAGCTGGTCAGACCTTTACTTTCACCACTGATAAATCTGTTATCGGCAACAGCGAAATGGTTGCGGTAACGTATGAAGGttt            <  1:384751/149‑1 (MQ=255)                                                                                                                                          ccAAACGTCCGGAAATCCGCACCATGAAACTGGAAGGCGGTAACGACGTTTCTCTGAAAGCTGGTCAGACCTTTACTTTCACCACTGATAAATCTGTTATCGGCAACAGCGAAATGGTTGCGGTAACGTATGAAGGTTTCACTACTGAc  <  1:416950/149‑1 (MQ=255)                                                                                                                                           cAAACGTCCGGAAATCCGCACCATGAAACTGGAAGGCGGTAACGACGTTTCTCTGAAAGCTGGTCAGACCTTTACTTTCACCACTGATAAATCTGTTATCGGCAACAGCGAAATGGTTGCGGTAACGTATGAAGGTTTCac         >  1:222177/1‑141 (MQ=255)                                                                                                                                           cAAACGTCCGGAAATCCGCACCATGAAACTGGAAGGCGGTAACGACGTTTCTCTGAAAGCTGGTCAGACCTTTACTTTCACCACTGATAAATCTGTTATCGGCAACAGCGAAATGGTTGCGGTAACGTATGAAGGTTTCac         <  2:222177/141‑1 (MQ=255)                                                                                                                                               |                                                                                                                                                TAAAATGCTGGACGCTGGCATGAACGTTATGCGTCTGAACTTCTCTCATGGTGACTATGCAGAACACGGTCAGCGCATTCAGAATCTGCGCAACGTGATGAGCAAAACTGGTAAAACCGCCGCTATCCTGCTTGATACCAAAGGTCCGGAAATCCGCACCATGAAACTGGAAGGCGGTAACGACGTTTCTCTGAAAGCTGGTCAGACCTTTACTTTCACCACTGATAAATCTGTTATCGGCAACAGCGAAATGGTTGCGGTAACGTATGAAGGTTTCACTACTGAC  >  NC_000913_3_hsa_tpiA/1755760‑1756045

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: ‑