Predicted mutation
evidence	seq id	position	mutation	annotation	gene	description
RA	NC_000913_3_hsa_tpiA	2,817,170	C→A	E112* (GAA→TAA)	yqaB ←	fructose‑1‑P and 6‑phosphogluconate phosphatase

Read alignment evidence...
	seq id	position		ref	new	freq	score (cons/poly)	reads	annotation	genes	product
*	NC_000913_3_hsa_tpiA	2,817,170	0	C	A	100.0%	139.5 / NA	47	E112* (GAA→TAA)	yqaB	fructose‑1‑P and 6‑phosphogluconate phosphatase
Reads supporting (aligned to +/- strand):  ref base C (0/0);  new base A (18/29);  total (18/29)

CGTCGGTTGCACGCCCATACGCTGCGCGCACAACAAAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGA‑TCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTCACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACAT‑CAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGTTTTTTCACGCGCTAACGCATGCGGGTCGAGATCGGC  >  NC_000913_3_hsa_tpiA/2817024‑2817314                                                                                                                                                    |                                                                                                                                                  cGTCGGTTGCACGCCCATACGCTGCGCGCACAACAAAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGA‑TCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAAc                                                                                                                                                 <  2:135970/149‑1 (MQ=255)           aCGCCCATACGCTGCGCGCACAACAAAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGA‑TCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTcc                                                                                                                                       >  1:295092/1‑149 (MQ=255)           aCGCCCATACGCTGCGCGCACAACAAAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGA‑TCGGCAGCGACGACGGCGTCAAAATAATGGCGCAACCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTcc                                                                                                                                       >  1:675549/1‑149 (MQ=255)             gCCCATACGCTGCGCGCACAACAAAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGA‑TCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCtc                                                                                                                                     >  2:859368/1‑148 (MQ=255)               ccATACGCTGCGCGCACAACAAAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGA‑TCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACa                                                                                                                                   <  2:740846/149‑1 (MQ=255)                      cTGCGCGCACAACAAAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGA‑TCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTTCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTg                                                                                                                            <  1:570437/149‑1 (MQ=255)                        gcgcgcACAACAAAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGA‑TCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTggg                                                                                                                          <  1:756393/149‑1 (MQ=255)                                   gaaaaTGTGTCGGGCGCGGGGTTATGGTGTTGGACGTGA‑TCGGCAGCGACGACGGCGGCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAAGGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATg                                                                                                               <  2:86097/148‑1 (MQ=255)                                   aaaaaTGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGA‑TCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATg                                                                                                               >  2:540368/1‑149 (MQ=255)                                   aaaaaTGTGTCTGGCGCGGGTTTATGGTGCTTG‑CGGGAGTCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATg                                                                                                               >  1:854368/1‑149 (MQ=255)                                      aaTGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGA‑TCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCa                                                                                                            >  2:14689/1‑149 (MQ=255)                                       gttgggcTGGCGCGGGTTTATGGTGTTTGACGTGA‑TCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCaa                                                                                                           <  2:810994/143‑1 (MQ=255)                                            tCTGGCGCGGGTTTATGGTGTTTGACGTGA‑TCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCTATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACtttt                                                                                                      <  1:446217/149‑1 (MQ=255)                                             cTGGCGCGGGTTTATGGTGTTTGACGTGA‑TCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTc                                                                                                     <  2:507190/149‑1 (MQ=255)                                             cTGGCGAGGGTTTATGGTGTTTGACGTGA‑TCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATTCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTc                                                                                                     <  1:104057/149‑1 (MQ=255)                                              tGGCGCGGGTTTATCGTGTTTGACGTGA‑TCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCCTTGGGCGACGACCATGCCAACTTTTca                                                                                                    <  2:847890/149‑1 (MQ=255)                                                        ttATGGTGTTTGACGTGA‑TCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACAT‑caac                                                                                         <  2:295092/149‑1 (MQ=255)                                                                tttGACGTGA‑TCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTGCAGCCATTGGGCGACGACCATGCCAACTTTTCACCACAT‑CAACAAGTGGaa                                                                                 >  2:817431/1‑149 (MQ=255)                                                                 ttGACGTGA‑TCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACAT‑CAACAAGAGGAAg                                                                                <  1:14689/149‑1 (MQ=255)                                                                   gACGTGA‑TCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACAT‑CAACAAGAGGAAGCg                                                                              <  1:809648/149‑1 (MQ=255)                                                                        gA‑TCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACAT‑CAACAAGAGGAAGCGGTTCg                                                                         >  1:240682/1‑149 (MQ=255)                                                                         a‑TCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAGTGCCTCAGCGATGGCGGTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCCTGCCAACTTTTCACCACAT‑CAACAACAGGAAGCGGTTCGa                                                                        >  1:569857/1‑149 (MQ=255)                                                                                aGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCgacgac                                                                                                                   <  2:558237/101‑1 (MQ=255)                                                                                aGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTCTAACTCCCCGTTCCTACAGCCATTGGGCgacgac                                                                                                                   >  1:558237/1‑101 (MQ=255)                                                                                     cgacgGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTGCTCCAGCCATTGGGCGACGACCATGCCAACTTTTCACCACAT‑CAACAAGAGGAAGCGGTTCGACGCTATCcagc                                                             <  1:16882/149‑1 (MQ=255)                                                                                      gacgGCGTCAAAATGATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACAT‑CAACAAGAGGAAGCGGTTCGACGCTATCcagca                                                            <  1:804626/149‑1 (MQ=255)                                                                                      gacgGCGTCAAAATATTGGCGTAATTCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACAT‑CAACAAGAGGAAGCGGTTCGACGCTATCcagca                                                            <  1:804500/149‑1 (MQ=255)                                                                                           cGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACAT‑CAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATa                                                       <  1:295638/149‑1 (MQ=255)                                                                                           cGTCAAAATAATGGCGAAATCCCAGGTGCGCCAGCAAAGCCTCAGCGATGGCGCTTTAATTCCTCGTTCCTACAGCCGTTGGGCGACGACCATGCCAACTTTTCACCACAT‑CAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCAtg                                                       <  2:797806/149‑2 (MQ=255)                                                                                              cAAAATAATGGCGTAATCCCAGGGGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACAT‑CAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATActt                                                    <  1:397763/149‑1 (MQ=255)                                                                                              cAAAATAAGGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACAT‑CAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATActt                                                    <  2:459294/149‑1 (MQ=255)                                                                                                 aataatGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACAT‑CAACAAGAGGAAGCGGtt                                                                           >  2:66490/1‑123 (MQ=255)                                                                                                 aataatGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACAT‑CAACAAGAGGAAGCGGtt                                                                           <  1:66490/123‑1 (MQ=255)                                                                                                   taatGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGTCTTTGCCAACTTTT‑TCAGCATGCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTAc                                               <  1:424009/149‑1 (MQ=255)                                                                                                   taatGGCGTAATCCCAGGTGCGCCAGCAATGCCGCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACAT‑CAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTAc                                               <  1:457855/149‑1 (MQ=255)                                                                                                      tGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACAT‑CAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGc                                            <  1:669869/149‑1 (MQ=255)                                                                                                         cGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTACTACCGCCATTCGGGGACGACCATGCCAACTTTTCACCACAT‑CAACAAGAGGAAGCGCTTCGACGCTATCCAGCACCACACTTCCTACTGCTTc                                         >  2:380769/1‑149 (MQ=255)                                                                                                           tAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACAT‑CAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCAGACTACTTACTGCTTCTg                                       >  1:837936/1‑149 (MQ=255)                                                                                                                 cAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACAT‑CAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGtttttt                                 >  1:9131/1‑149 (MQ=255)                                                                                                                        gcCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACAT‑CAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGTTTTTTCACgcgc                          >  1:48302/1‑149 (MQ=255)                                                                                                                           aGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACAT‑CAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGTTTTTTCACGCGCTaa                       <  1:531464/149‑1 (MQ=255)                                                                                                                               aTGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACAT‑CAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGTTTTTTCACGCGCTAACGCa                   >  2:484493/1‑149 (MQ=255)                                                                                                                                      aGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACAT‑CAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGTTTTTTCACGCGCTAACGCATGCGGGt            <  2:82126/149‑1 (MQ=255)                                                                                                                                       gCGATGGCGCTTTAACTCCCCGTCCCTACAGCCATTGGGCGAGGACCATGCCAACTTTTCACCACAT‑CAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGTTTTTTCACGCGCTAACGCATGCGGGTc           <  2:231920/149‑1 (MQ=255)                                                                                                                                           tGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTCTTCACCACAT‑CAAAATGGGAGTGCTGCGCGACGCTCCCCAGCCGACACCTTCTGACTGCCTCTGTTTTTTCACGCGCCACCGCCTCCGGATCgaga       >  2:436896/1‑149 (MQ=255)                                                                                                                                              cgcTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACAT‑CAACAAGAGGAAGCGGTTCGACGCTATCCATCAGCATACTTCTTACTGCTTCTGTGTTTTCACTCGCTAACTCATGCGGGTCGAGATCg    >  1:240318/1‑149 (MQ=255)                                                                                                                                                cTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACAT‑CAACAAGAGGAAGCGTTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGTTTTTTCACGCGCTAACGCATGCGGGTCGAGATCGGc  <  2:510836/149‑1 (MQ=255)                                                                                                                                                    |                                                                                                                                                  CGTCGGTTGCACGCCCATACGCTGCGCGCACAACAAAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGA‑TCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTCACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACAT‑CAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGTTTTTTCACGCGCTAACGCATGCGGGTCGAGATCGGC  >  NC_000913_3_hsa_tpiA/2817024‑2817314

Alignment Legend
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 22 ≤ ATCG/ATCG < 32 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG
Unaligned base: atcg    Masked matching base: atcg    Alignment gap: ‑    Deleted base: ‑