Predicted mutation
evidence	seq id	position	mutation	annotation	gene	description
RA	NC_000913_3_hsa_tpiA	3,815,810	Δ1 bp	intergenic (‑42/+24)	pyrE ← / ← rph	orotate phosphoribosyltransferase/ribonuclease PH (defective);enzyme; Degradation of RNA; RNase PH

Read alignment evidence...
	seq id	position		ref	new	freq	score (cons/poly)	reads	annotation	genes	product
*	NC_000913_3_hsa_tpiA	3,815,809	0	G	.	93.3%	178.0 / 7.0	45	intergenic (‑41/+25)	pyrE/rph	orotate phosphoribosyltransferase/ribonuclease PH (defective);enzyme; Degradation of RNA; RNase PH
Reads supporting (aligned to +/- strand):  ref base G (0/0);  major base . (20/22);  minor base A (2/1);  total (22/23)
Fisher's exact test for biased strand distribution p-value = 6.08e-01
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.50e-01

ATAGGGGCTTTTGCGCCCGGATTTCAGCGTAAACTCGCCAAACTTTAACACCTGCTTGCTAAGCGCAAATTCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTCGCCTTCTGCCGTCCCCTGCACT  >  NC_000913_3_hsa_tpiA/3815670‑3815953                                                                                                                                            |                                                                                                                                                 atgggggGTTTTGCGCAGGGATTTCAGCGTAAACTCGCCAAATTTTAACACCTGCTTGCTAAGAGCAAATTCAATAAACGGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAA‑GCGACtcatc                                                                                                                                        <  2:94361/146‑1 (MQ=255) aTAGGGGCTTTTGCGCCCGGATTTCAGCGTAAACTCGCCAAACTTTAACACCTGCTTGCTAAGCGCAAATTCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAA‑GCGACtcatc                                                                                                                                        >  1:539631/1‑149 (MQ=255)     gggCTTTTGCGCCCGGATTTCAGCGTAAACTCGCCAAACTTTAACACCTGCTTGCTAAGCGCAAATTCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCTTCTTACTTTAAAAAAAAAAAAAAAAA‑GCGACTCATCAGTc                                                                                                                                    <  2:174522/149‑1 (MQ=255)       gCTTTTGCGCCCGGATTTCAGCGTAAACTCGCCAAACTTTAACAACTGCTTGCTAAGCGCAAATTCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAA‑GCGACTCATCAGTCGc                                                                                                                                  <  2:173741/149‑1 (MQ=255)                 ccGGATTTCAGCGTAAACTCGCCAAACTTTAACACCTGCTTGCTAAGCGCAAATTCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATc                                                                                                                        >  2:927640/1‑149 (MQ=255)                     aTTTCAGCGTAAACTCGCCAAACTTTAACACCTGCTTGCTAAGCGCAAATTCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGtt                                                                                                                    <  1:927640/149‑1 (MQ=255)                      tttCAGCGTAAACTCGCCAAACTTTAACACCTGCTTGCTAAGCGCAAATTCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGttt                                                                                                                   <  1:214439/149‑1 (MQ=255)                      tttCAGCGTAAACTCGCCAAACTTTAACACCTGCTTGCTAAGCGCAAATTCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGttt                                                                                                                   <  1:76515/149‑1 (MQ=255)                           gCGTAAACTCGCCAAACTTTAACACCTGCTTGCTAAGCGCAAATTCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTGccgg                                                                                                              >  1:454744/1‑147 (MQ=255)                            cGTAAACTCGCCAAACTTTAACACCTGCTTGCTAAGCGCAAATTCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAgc                                                                                                             >  1:397337/1‑149 (MQ=255)                                      ccAAACTTTAACACCTGCTTGCTAAGCGCAAATTCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCt                                                                                                   <  1:961110/149‑1 (MQ=255)                                            tttAACACCTGCTTGCTAAGCGCAAATTCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCTCCGCCTTCTGCGTCg                                                                                             <  2:397337/149‑1 (MQ=255)                                            tttAACACCTGCTTGCTAAGCGCAAATTCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCg                                                                                             >  1:723415/1‑149 (MQ=255)                                             ttAACACCTGCTTGCTAAGCGCAAATTCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGCCAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGcgccgc                                                                                            >  1:439724/1‑149 (MQ=255)                                              tAACACCTGCTTGCTAAGCGCAAATTCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCt                                                                                           >  2:467118/1‑149 (MQ=255)                                                  acCTGCTTGCTAAGCGCAAATTCAATAAACTGGAGCTGATATGGTTTCATGCCTTCGCTCTTCATTTGAGGTTTCTACAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACaa                                                                                       >  1:996577/1‑149 (MQ=255)                                                      gcttgctAAGCGCAAATTCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAAAGCGACTCATCAGTCGCCTTAAAACTCAGTTTCCCAGCGCCGCCTTCTGCGTCGCTACAACgg                                                                                    >  2:368637/1‑149 (MQ=255)                                                         tgctAAGCGCAAATTCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGgattc                                                                                >  1:608790/1‑149 (MQ=255)                                                           ctAATCGCAAATTCAATAAACTTGCGCTGATATGGTTTCATGCCTTCGCCCCTCATCTTACTTTTCTACAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGgattcga                                                                              <  1:793246/149‑1 (MQ=255)                                                              aGCGAAAATTCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTAAAAAAAAAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACGCTGgattcgattc                                                                           <  2:813400/149‑1 (MQ=255)                                                               gcgcAAATTCAATAAACTGGCGCTGCTACGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTcc                                                                          <  1:618682/149‑1 (MQ=255)                                                                  cAAATTCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGATACAATGGATTCGCTTCCCCt                                                                       >  2:508309/1‑149 (MQ=255)                                                                     aTTCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGCTTCCCCTCgg                                                                    >  1:961083/1‑149 (MQ=255)                                                                         aaTAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCa                                                                >  1:42686/1‑149 (MQ=255)                                                                           tAAACTGGCGTTGTTATGGTTTCAAGCCTTCGGTGCTCATCTTACGTTTCTACAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCaga                                                              <  2:708708/149‑1 (MQ=255)                                                                                   cgcTGATTTGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACACTGGATTCGATTCCCCTCGGGCCAGAGCcaacaa                                                      <  2:773947/149‑1 (MQ=255)                                                                                     cTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGa                                                    >  1:626782/1‑149 (MQ=255)                                                                                     cTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGa                                                    <  2:723415/149‑1 (MQ=255)                                                                                          agggTTTAACGCCTTCGCTCCTCACCTTACTTTTCTACAGACAAAAAAAA‑GCGACGCATCAGTCGCCTTAAAAAGCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGAGt                                               <  2:36799/147‑1 (MQ=255)                                                                                              ttccATGCCTTCGTCCCTCATCTTCCTTTTCTAATGA‑AAAAAAAAAGCGACTCATCAGTTGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCATAGCCAACAAGATGAGTAGct                                           <  2:312779/146‑1 (MQ=255)                                                                                                  aTGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTc                                       >  2:161974/1‑149 (MQ=255)                                                                                                    gCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACaa                                                                                       >  1:934909/1‑99 (MQ=255)                                                                                                    gCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACaa                                                                                       <  2:934909/99‑1 (MQ=255)                                                                                                      cTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATgg                                   <  2:42686/149‑1 (MQ=255)                                                                                                      cTTCCCTCCTCATCTTACTTTTCTACAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATgg                                   <  1:531964/149‑1 (MQ=255)                                                                                                       ttCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGAGTAGGTCCTCATggg                                  >  2:219780/1‑149 (MQ=255)                                                                                                             cctcATCTTACTTTTCTACAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGGGAACg                            >  1:642017/1‑149 (MQ=255)                                                                                                              ctcATCTTACTTTTCTACAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACgg                           <  1:654389/149‑1 (MQ=255)                                                                                                                cATCTTACTTTTCTACAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCt                         <  1:508309/149‑1 (MQ=255)                                                                                                                        ttttCTACAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGAg                                                >  2:339302/1‑118 (MQ=255)                                                                                                                        ttttCTACAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGAg                                                <  1:339302/118‑1 (MQ=255)                                                                                                                          ttCTACAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTCGCCTTCTGc               <  1:232389/149‑1 (MQ=255)                                                                                                                                aGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTCGCCTTCTGCCGTccc         >  1:12852/1‑149 (MQ=255)                                                                                                                                 gACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTCGCCTTCTGCCGTcccc        >  1:225318/1‑149 (MQ=255)                                                                                                                                   acaaaaaaaaGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCGTCTTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTGTTCATGGGTGCACGGCTCGCCTTCTGCCGTCCCCt       >  1:1001933/3‑149 (MQ=255)                                                                                                                                    caaaaaaaaGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTCGCCTTCTGCCGTCCCCTg      <  1:161974/148‑1 (MQ=255)                                                                                                                                        aaaaAGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCCGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTCGCCTTCTACCGTCCCCTGCACt  >  1:38486/1‑149 (MQ=255)                                                                                                                                            |                                                                                                                                                 ATAGGGGCTTTTGCGCCCGGATTTCAGCGTAAACTCGCCAAACTTTAACACCTGCTTGCTAAGCGCAAATTCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTCGCCTTCTGCCGTCCCCTGCACT  >  NC_000913_3_hsa_tpiA/3815670‑3815953

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: ‑