Predicted mutation
evidence	seq id	position	mutation	annotation	gene	description
MC JC	NC_000913_3_hsa_tpiA	3,815,859	Δ82 bp		[rph]–[rph]	[rph], [rph]

Missing coverage evidence...
			seq id	start	end	size	←reads	reads→	gene	description
*	*	÷	NC_000913_3_hsa_tpiA	3815859	3815940	82	42 [0]	[0] 42	[rph]–[rph]	[rph],[rph]

New junction evidence
		seq id	position	reads (cov)	reads (cov)	score	skew	freq	annotation	gene	product
*	?	NC_000913_3_hsa_tpiA	= 3815858	0 (0.000)	38 (1.200)	32/260	0.1	100%	pseudogene (24/48 nt)	rph	ribonuclease PH (defective);enzyme; Degradation of RNA; RNase PH
	?	NC_000913_3_hsa_tpiA	3815941 =	0 (0.000)					pseudogene (609/669 nt)	rph	ribonuclease PH (defective);enzyme; Degradation of RNA; RNase PH

GGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTCGCCTTCTGCCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATCGCAAACCGCTTCGCCGTTCACAATTCCGACAGAAACTGCGGCTACCATCCCTTTCATC  >  NC_000913_3_hsa_tpiA/3815809‑3816088                                                                                                                                     |                                                                                                                                                    gccaagcgcaaattcaataaactggcgctgatatggtttcatgccttcgctcctcatcttacttttctacagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCaa                                                                                                                                     <  1:497045‑M2/17‑1 (MQ=255)   taagcgcaaattcaataaactggcgctgatatggtttcatgccttcgctcctcatcttacttttctacagccaaaaaaaaggcgcctcatccgtcgccttaaaaaacaatttaccagcgccgccttctacCGTCCCCTGCACTTCAatg                                                                                                                                   >  1:155271‑M2/131‑149 (MQ=255)                   aaactggcgctgatatggtttcatgccttcgctcctcatcttacttttctacagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCgg                                                                                                                   >  2:399960‑M2/115‑149 (MQ=255)                     actggcgctgatattgtttcatgccttcgctcctcatcttacttttctaaagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGtc                                                                                                                 <  2:112675‑M2/37‑1 (MQ=255)                     actggcgctgatagggttccatgccttcgctcctcatctaggctttatatagacaaaaaaaaggggactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGtc                                                                                                                 <  2:428429‑M2/37‑1 (MQ=255)                          gcgctgatatggtttcatgccttcgctcctcatcttactttgctacagacaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccaccttctgcCGTCCCCTGCACTTCAATGATGTGCCCGTCTTCGGTCATCAc                                                                                                            >  1:169758‑M2/108‑149 (MQ=255)                                tatgggtgcatgccttcgtgcctaatcttacttatctaaaaaaaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGtt                                                                                                      <  2:196256‑M2/48‑1 (MQ=255)                                 atggtttcatgccttcgctcctcatcttacttttctacagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagtgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTc                                                                                                     >  2:465377‑M2/101‑149 (MQ=255)                                    gtttcatgccttcgctcctcatcttacttttctacggacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATg                                                                                                  >  1:483846‑M2/98‑149 (MQ=255)                                      ttcatgccttcgctcctcatcttacttttctacagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTc                                                                                                >  1:96289‑M2/96‑149 (MQ=255)                                       tcatgccttcgctcctcatcttacttttctacagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCg                                                                                               >  2:470457‑M2/95‑149 (MQ=255)                                             cttcgctcctcatcttacttttctacagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCg                                                                                                                    <  1:223435‑M2/34‑1 (MQ=255)                                             cttcgctcctcatcttacttttctacagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCg                                                                                                                    >  2:223435‑M2/89‑122 (MQ=255)                                                  cacctcatcttacttttctacagacaaaaaaaaggcgactcatcactcgccttagaaatgattgggccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTCCGTTCATGTCGGTCTCTGCGGc                                                                                    >  1:121625‑M2/84‑149 (MQ=255)                                                          cttacttttctacagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCtt                                                                            >  2:438109‑M2/76‑149 (MQ=255)                                                           ttacttttctacagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTc                                                                           <  2:478079‑M2/75‑1 (MQ=255)                                                             actttttgacagacaaaaaaaaggcgactcatcagtcgccttaaaaatctgtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCaa                                                                         <  2:231135‑M2/77‑1 (MQ=255)                                                               ttttctacagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACg                                                                       >  1:3904‑M2/71‑149 (MQ=255)                                                                 ttctacagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgacagcgccgccttctgcCGTCGCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCCCTACGTTCATATCGGTCTCTGCCGCTGAGTCTTCAacgga                                                                     >  2:128657‑M2/69‑147 (MQ=255)                                                                      cagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCCATGATGCGCCCGTCTTCGGTAATCCCTACGTTCATGTCGGTCTCTGCGGCAGATACTTCAAAGTATGCCa                                                                >  1:570080‑M2/64‑149 (MQ=255)                                                                      cagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCa                                                                <  1:470457‑M2/86‑1 (MQ=255)                                                                        gacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCaga                                                                                 <  1:390291‑M2/69‑1 (MQ=255)                                                                        gacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCaga                                                                                 >  2:390291‑M2/62‑130 (MQ=255)                                                                        gacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGa                                                              >  1:343499‑M2/62‑149 (MQ=255)                                                                         acaaacaagaggcgcctcctccgccgccttaaaaatccgtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACCTTCATGTCGGTCTTTGCGGCAGAGTCTTCAACGTATTCCAGAt                                                             <  2:593386‑M2/89‑1 (MQ=255)                                                                          caaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATc                                                            >  2:367075‑M2/60‑149 (MQ=255)                                                                             aaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATCGCa                                                         >  2:395956‑M2/57‑149 (MQ=255)                                                                                         tcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATCGCAAACCGCTTCGcc                                             >  1:470228‑M2/45‑149 (MQ=255)                                                                                           atcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCa                                                                <  2:355656‑M2/86‑1 (MQ=255)                                                                                           atcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCa                                                                >  1:355656‑M2/43‑128 (MQ=255)                                                                                           atcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTAGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATCACCAACCGCTTCGCCGt                                           >  2:563821‑M2/43‑149 (MQ=255)                                                                                             cagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATCGCAAACCGCTTCGCCGTTc                                         <  1:95967‑M2/109‑1 (MQ=255)                                                                                                   ccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATCGCAACCCGCTTCGCCGTTCACAAtt                                   >  1:289110‑M2/35‑149 (MQ=255)                                                                                                       aaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGCCTTCAACGTATTCCAGATCGCAACCCGCTTCGCCGTTCACAATTCCGa                               <  1:517643‑M2/119‑1 (MQ=255)                                                                                                          aatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTGTTCCAGATCGCAAACCGCTTCGCCGTTCACAAtttcgcacg                            >  1:375772‑M2/28‑145 (MQ=255)                                                                                                                 ttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATCGCAAACCGCTTCGCCGTTCACAATTCCGACAGAAACTGc                     <  2:96289‑M2/129‑1 (MQ=255)                                                                                                                 ttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATCGCAAACCGCTTCGCCGTTCACAATTCCGACAGAAACTGc                     <  2:155271‑M2/129‑1 (MQ=255)                                                                                                                   gccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATCGCAAACCGCTTCGCCGTTCACAATTCCGACAGAAACTGCgg                   <  2:289110‑M2/131‑1 (MQ=255)                                                                                                                            gccttctgcCGTCCCCTGAACTTCAATGATGCGCCCGCCTTCGGGCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATCGCAAACCGCTTCGCCGTTCACAATTCCGACAGAAACTGCGGCTACCATcc          <  2:3904‑M2/140‑1 (MQ=255)                                                                                                                             ccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATCGCAAACCGCTTCGCCGTTCACAATTCCGACAGAAACTGCGGCTACCATccc         >  1:455515‑M2/9‑149 (MQ=255)                                                                                                                              cttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATCGCAAACCGCTTCGCCGTTCACAATTCCGACAGAAACTGCGGCTACCATCCCt        <  2:483846‑M2/142‑1 (MQ=255)                                                                                                                                    cCGTCCGCTGCACTTCAATACTGCGCCCGTCTTCGGCCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGACTTCAACGTATTCCAGATCGCAAACCGCTTCGCCGTTCACAATTCCGACAGAAACTGCGGCTACCATCCCTTTCATc  <  1:237338‑M2/148‑1 (MQ=255)                                                                                                                                     |                                                                                                                                                    GGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTCGCCTTCTGCCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATCGCAAACCGCTTCGCCGTTCACAATTCCGACAGAAACTGCGGCTACCATCCCTTTCATC  >  NC_000913_3_hsa_tpiA/3815809‑3816088

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: ‑