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

GCTAAGCGCAAATTCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTCGCCTTCTGCCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGC  >  NC_000913_3_hsa_tpiA/3815727‑3816006                                                                                                                                    |                                                                                                                                                     gccaagcgCAAATTCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCcgtcccctgcacttcaa                                                                                                                                     <  1:497045‑M1/146‑18 (MQ=255)   tAAGCGCAAATTCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGCCAAAAAAAAGGCGCCTCATCCGTCGCCTTAAAAAACAATTTACCAGCGCCGCCTTCTACcgtcccctgcacttcaatg                                                                                                                                   >  1:155271‑M1/1‑130 (MQ=255)                   aaaCTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCcgtcccctgcacttcaatgatgcgcccgtcttcgg                                                                                                                   >  2:399960‑M1/1‑114 (MQ=255)                     aCTGGCGCTGATATTGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTAAAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCcgtcccctgcacttcaatgatgcgcccgtcttcggtc                                                                                                                 <  2:112675‑M1/149‑38 (MQ=255)                     aCTGGCGCTGATAGGGTTCCATGCCTTCGCTCCTCATCTAGGCTTTATATAGACAAAAAAAAGGGGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCcgtcccctgcacttcaatgatgcgcccgtcttcggtc                                                                                                                 <  2:428429‑M1/149‑38 (MQ=255)                         gcgcTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTGCTACAGAC‑AAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCACCTTCTGCcgtcccctgcacttcaatgatgtgcccgtcttcggtcatcac                                                                                                            >  1:169758‑M1/1‑107 (MQ=255)                                tatGGGTGCATGCCTTCGTGCCTAATCTTACTTATCTAAAAAAAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCcgtcccctgcacttcaatgatgcgcccgtcttcggtcatcactacgtt                                                                                                      <  2:196256‑M1/149‑49 (MQ=255)                                 atGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGTGCCGCCTTCTGCcgtcccctgcacttcaatgatgcgcccgtcttcggtcatcactacgttc                                                                                                     >  2:465377‑M1/1‑100 (MQ=255)                                    gTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACGGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCcgtcccctgcacttcaatgatgcgcccgtcttcggtcatcactacgttcatg                                                                                                  >  1:483846‑M1/1‑97 (MQ=255)                                      ttCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCcgtcccctgcacttcaatgatgcgcccgtcttcggtcatcactacgttcatgtc                                                                                                >  1:96289‑M1/1‑95 (MQ=255)                                       tCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCcgtcccctgcacttcaatgatgcgcccgtcttcggtcatcactacgttcatgtcg                                                                                               >  2:470457‑M1/1‑94 (MQ=255)                                             cTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCcgtcccctgcacttcaatgatgcgcccgtcttcg                                                                                                                    <  1:223435‑M1/122‑35 (MQ=255)                                             cTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCcgtcccctgcacttcaatgatgcgcccgtcttcg                                                                                                                    >  2:223435‑M1/1‑88 (MQ=255)                                                  cacctcatCTTACTTTTCTACAGACAAAAAAAAGGCGACTCATCACTCGCCTTAGAAATGATTGGGCCAGCGCCGCCTTCTGCcgtcccctgcacttcaatgatgcgcccgtcttcggtcatcactccgttcatgtcggtctctgcggc                                                                                    >  1:121625‑M1/3‑83 (MQ=255)                                                          cTTACTTTTCTACAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCcgtcccctgcacttcaatgatgcgcccgtcttcggtcatcactacgttcatgtcggtctctgcggcagagtctt                                                                            >  2:438109‑M1/1‑75 (MQ=255)                                                           ttACTTTTCTACAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCcgtcccctgcacttcaatgatgcgcccgtcttcggtcatcactacgttcatgtcggtctctgcggcagagtcttc                                                                           <  2:478079‑M1/149‑76 (MQ=255)                                                             aCTTTTTGACAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCTGTTTGCCAGCGCCGCCTTCTGCcgtcccctgcacttcaatgatgcgcccgtcttcggtcatcactacgttcatgtcggtctctgcggcagagtcttcaa                                                                         <  2:231135‑M1/149‑78 (MQ=255)                                                               ttttCTACAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCcgtcccctgcacttcaatgatgcgcccgtcttcggtcatcactacgttcatgtcggtctctgcggcagagtcttcaacg                                                                       >  1:3904‑M1/1‑70 (MQ=255)                                                                 ttCTACAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGACAGCGCCGCCTTCTGCcgtcgcctgcacttcaatgatgcgcccgtcttcggtcatccctacgttcatatcggtctctgccgctgagtcttcaacgga                                                                     >  2:128657‑M1/1‑68 (MQ=255)                                                                      cAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCcgtcccctgcacttccatgatgcgcccgtcttcggtaatccctacgttcatgtcggtctctgcggcagatacttcaaagtatgcca                                                                >  1:570080‑M1/1‑63 (MQ=255)                                                                      cAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCcgtcccctgcacttcaatgatgcgcccgtcttcggtcatcactacgttcatgtcggtctctgcggcagagtcttcaacgtattcca                                                                <  1:470457‑M1/149‑87 (MQ=255)                                                                        gACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCcgtcccctgcacttcaatgatgcgcccgtcttcggtcatcactacgttcatgtcggtctctgcggcagagtcttcaacgtattccaga                                                              >  1:343499‑M1/1‑61 (MQ=255)                                                                        gACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCcgtcccctgcacttcaatgatgcgcccgtcttcggtcatcactacgttcatgtcggtctctgcggcaga                                                                                 >  2:390291‑M1/1‑61 (MQ=255)                                                                        gACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCcgtcccctgcacttcaatgatgcgcccgtcttcggtcatcactacgttcatgtcggtctctgcggcaga                                                                                 <  1:390291‑M1/130‑70 (MQ=255)                                                                         acaaacaaGAGGCGCCTCCTCCGCCGCCTTAAAAATCCGTTTGCCAGCGCCGCCTTCTGCcgtcccctgcacttcaatgatgcgcccgtcttcggtcatcactaccttcatgtcggtctttgcggcagagtcttcaacgtattccagat                                                             <  2:593386‑M1/149‑90 (MQ=255)                                                                          cAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCcgtcccctgcacttcaatgatgcgcccgtcttcggtcatcactacgttcatgtcggtctctgcggcagagtcttcaacgtattccagatc                                                            >  2:367075‑M1/1‑59 (MQ=255)                                                                             aaaaaaGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCcgtcccctgcacttcaatgatgcgcccgtcttcggtcatcactacgttcatgtcggtctctgcggcagagtcttcaacgtattccagatcgca                                                         >  2:395956‑M1/1‑56 (MQ=255)                                                                                         tcatcaGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCcgtcccctgcacttcaatgatgcgcccgtcttcggtcatcactacgttcatgtcggtctctgcggcagagtcttcaacgtattccagatcgcaaaccgcttcgcc                                             >  1:470228‑M1/1‑44 (MQ=255)                                                                                           atcaGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCcgtcccctgcacttcaatgatgcgcccgtcttcggtcatcactacgttcatgtcggtctctgcggcagagtcttcaacgtattcca                                                                <  2:355656‑M1/128‑87 (MQ=255)                                                                                           atcaGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCcgtcccctgcacttcaatgatgcgcccgtcttcggtcatcactacgttcatgtcggtctctgcggcagagtcttcaacgtattcca                                                                >  1:355656‑M1/1‑42 (MQ=255)                                                                                           atcaGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCcgtcccctgcacttcaatgatgcgcccgtcttaggtcatcactacgttcatgtcggtctctgcggcagagtcttcaacgtattccagatcaccaaccgcttcgccgt                                           >  2:563821‑M1/1‑42 (MQ=255)                                                                                             caGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCcgtcccctgcacttcaatgatgcgcccgtcttcggtcatcactacgttcatgtcggtctctgcggcagagtcttcaacgtattccagatcgcaaaccgcttcgccgttc                                         <  1:95967‑M1/149‑110 (MQ=255)                                                                                                   ccTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCcgtcccctgcacttcaatgatgcgcccgtcttcggtcatcactacgttcatgtcggtctctgcggcagagtcttcaacgtattccagatcgcaacccgcttcgccgttcacaatt                                   >  1:289110‑M1/1‑34 (MQ=255)                                                                                                       aaaaaTCAGTTTGCCAGCGCCGCCTTCTGCcgtcccctgcacttcaatgatgcgcccgtcttcggtcatcactacgttcatgtcggtctctgcggcagagccttcaacgtattccagatcgcaacccgcttcgccgttcacaattccga                               <  1:517643‑M1/149‑120 (MQ=255)                                                                                                          aaTCAGTTTGCCAGCGCCGCCTTCTGCcgtcccctgcacttcaatgatgcgcccgtcttcggtcatcactacgttcatgtcggtctctgcggcagagtcttcaacgtgttccagatcgcaaaccgcttcgccgttcacaatttcgcacg                            >  1:375772‑M1/1‑27 (MQ=255)                                                                                                                 ttGCCAGCGCCGCCTTCTGCcgtcccctgcacttcaatgatgcgcccgtcttcggtcatcactacgttcatgtcggtctctgcggcagagtcttcaacgtattccagatcgcaaaccgcttcgccgttcacaattccgacagaaactgc                     <  2:96289‑M1/149‑130 (MQ=255)                                                                                                                 ttGCCAGCGCCGCCTTCTGCcgtcccctgcacttcaatgatgcgcccgtcttcggtcatcactacgttcatgtcggtctctgcggcagagtcttcaacgtattccagatcgcaaaccgcttcgccgttcacaattccgacagaaactgc                     <  2:155271‑M1/149‑130 (MQ=255)                                                                                                                   gCCAGCGCCGCCTTCTGCcgtcccctgcacttcaatgatgcgcccgtcttcggtcatcactacgttcatgtcggtctctgcggcagagtcttcaacgtattccagatcgcaaaccgcttcgccgttcacaattccgacagaaactgcgg                   <  2:289110‑M1/149‑132 (MQ=255)                                                                                                                            gccTTCTGCcgtcccctgaacttcaatgatgcgcccgccttcgggcatcactacgttcatgtcggtctctgcggcagagtcttcaacgtattccagatcgcaaaccgcttcgccgttcacaattccgacagaaactgcggctaccatcc          <  2:3904‑M1/149‑141 (MQ=255)                                                                                                                             ccTTCTGCcgtcccctgcacttcaatgatgcgcccgtcttcggtcatcactacgttcatgtcggtctctgcggcagagtcttcaacgtattccagatcgcaaaccgcttcgccgttcacaattccgacagaaactgcggctaccatccc         >  1:455515‑M1/1‑8 (MQ=255)                                                                                                                              cTTCTGCcgtcccctgcacttcaatgatgcgcccgtcttcggtcatcactacgttcatgtcggtctctgcggcagagtcttcaacgtattccagatcgcaaaccgcttcgccgttcacaattccgacagaaactgcggctaccatccct        <  2:483846‑M1/149‑143 (MQ=255)                                                                                                                                    ccgtccgctgcacttcaatactgcgcccgtcttcggccatcactacgttcatgtcggtctctgcggcagagacttcaacgtattccagatcgcaaaccgcttcgccgttcacaattccgacagaaactgcggctaccatccctttcatc  <  1:237338‑M1/149‑149 (MQ=255)                                                                                                                                    |                                                                                                                                                     GCTAAGCGCAAATTCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTCGCCTTCTGCCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGC  >  NC_000913_3_hsa_tpiA/3815727‑3816006

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: ‑