MITOMAP: mtDNA Somatic Mutations

Last Edited: Dec 30, 2021

Locus Nucleotide Position Nucleotide Change Amino Acid Change Homo-plasmy Hetero-Plasmy Cell or Tissue type Note References
1,1,"MT-ATT,MT-CR,MT-7SDNA","G-C","Control Region","+ / -","prostate tumor",".","2"32,32,"MT-ATT,MT-CR,MT-7SDNA","A-G","Control Region","- / +","POLG/PEO patient",".","1"45,45,"MT-ATT,MT-CR,MT-7SDNA","A-G","Control Region","- / +","control skeletal muscle",".","1"46,46,"MT-ATT,MT-CR,MT-7SDNA","T-C","Control Region","- / +","control skeletal muscle",".","1"52,52,"MT-ATT,MT-CR,MT-7SDNA","T-C","Control Region","+ / -","ovarian tumor",".","1"55,55,"MT-ATT,MT-CR,MT-7SDNA","T-C","Control Region","- / +","control skeletal muscle",".","1"59,59,"MT-HV2,MT-ATT,MT-CR,MT-7SDNA","T-C","Control Region","- / +","control skeletal muscle",".","1"60,60,"MT-HV2,MT-ATT,MT-CR,MT-7SDNA","T-C","Control Region","- / +","normal tissues",".","1"62,62,"MT-HV2,MT-ATT,MT-CR,MT-7SDNA","G-C","Control Region","- / +","aging brains",".","1"64,64,"MT-HV2,MT-ATT,MT-CR,MT-7SDNA","C-A","Control Region","- / +","POLG/PEO muscle, normal tissues",".","2"64,64,"MT-HV2,MT-ATT,MT-CR,MT-7SDNA","C-T","Control Region","- / +","aging brains",".","2"66,66,"MT-HV2,MT-ATT,MT-CR,MT-7SDNA","G-A","Control Region","- / +","POLG/PEO muscle, normal tissues",".","2"67,67,"MT-HV2,MT-ATT,MT-CR,MT-7SDNA","G-A","Control Region","- / +","POLG/PEO muscle, normal tissues",".","2"71,71,"MT-HV2,MT-ATT,MT-CR,MT-7SDNA","G-GG","Control Region","- / +","various tumors","insertion","1"71,71,"MT-HV2,MT-ATT,MT-CR,MT-7SDNA","G-del","Control Region","- / +","normal tissues","deletion","1"72,72,"MT-HV2,MT-ATT,MT-CR,MT-7SDNA","T-C","Control Region","- / +","aging brains, POLG/PEO & control muscle, normal tissues",".","4"73,73,"MT-HV2,MT-ATT,MT-CR,MT-7SDNA","A-G","Control Region","+ / +","aging brains, POLG/PEO & control muscle, buccal cell, thyroid & prostate tumors",".","7"74,74,"MT-HV2,MT-ATT,MT-CR,MT-7SDNA","T-A","Control Region","- / +","POLG/PEO muscle",".","1"74,74,"MT-HV2,MT-ATT,MT-CR,MT-7SDNA","T-G","Control Region","- / +","POLG/PEO muscle",".","2"80,80,"MT-HV2,MT-ATT,MT-CR,MT-7SDNA","C-A","Control Region","- / +","POLG/PEO muscle",".","1"84,84,"MT-HV2,MT-ATT,MT-CR,MT-7SDNA","A-G","Control Region","- / +","POLG/PEO muscle",".","1"91,91,"MT-HV2,MT-ATT,MT-CR,MT-7SDNA","C-T","Control Region","- / +","control skeletal muscle",".","1"92,92,"MT-HV2,MT-ATT,MT-CR,MT-7SDNA","G-A","Control Region","- / +","aging brains",".","1"94,94,"MT-HV2,MT-ATT,MT-CR,MT-7SDNA","G-A","Control Region","+ / -","prostate tumor, normal tissues",".","3"97,97,"MT-HV2,MT-ATT,MT-CR,MT-7SDNA","G-A","Control Region","- / +","POLG/PEO muscle",".","1"98,98,"MT-HV2,MT-ATT,MT-CR,MT-7SDNA","C-del","Control Region","+ / -","thyroid tumor","deletion","1"100,100,"MT-HV2,MT-ATT,MT-CR,MT-7SDNA","G-A","Control Region","- / +","POLG/PEO muscle",".","1"103,103,"MT-HV2,MT-ATT,MT-CR,MT-7SDNA","G-A","Control Region","- / +","colonic mucosa","","1"106,106,"MT-HV2,MT-ATT,MT-CR,MT-7SDNA","G-A","Control Region","+ / -","prostate tumor",".","2"107,107,"MT-HV2,MT-ATT,MT-CR,MT-7SDNA","G-del","Control Region","+ / -","thyroid tumor","deletion","1"112,112,"MT-HV2,MT-OHR,MT-ATT,MT-CR,MT-7SDNA","C-T","Control Region","- / +","control skeletal muscle",".","1"114,114,"MT-HV2,MT-OHR,MT-ATT,MT-CR,MT-7SDNA","C-T","Control Region","- / +","POLG/PEO muscle, bladder tumor back-mutation",".","3"115,115,"MT-HV2,MT-OHR,MT-ATT,MT-CR,MT-7SDNA","T-C","Control Region","+ / -","thyroid tumor",".","2"117,117,"MT-HV2,MT-OHR,MT-ATT,MT-CR,MT-7SDNA","T-C","Control Region","- / +","control skeletal muscle",".","1"121,121,"MT-HV2,MT-OHR,MT-ATT,MT-CR,MT-7SDNA","G-A","Control Region","- / +","POLG/PEO muscle",".","1"122,122,"MT-HV2,MT-OHR,MT-ATT,MT-CR,MT-7SDNA","C-T","Control Region","- / +","POLG/PEO muscle",".","1"124,124,"MT-HV2,MT-OHR,MT-ATT,MT-CR,MT-7SDNA","G-A","Control Region","- / +","POLG/PEO muscle",".","1"125,125,"MT-HV2,MT-OHR,MT-ATT,MT-CR,MT-7SDNA","T-C","Control Region","- / +","POLG/PEO & control muscle",".","1"137,137,"MT-HV2,MT-OHR,MT-ATT,MT-CR,MT-7SDNA","A-G","Control Region","- / +","POLG/PEO muscle",".","1"146,146,"MT-HV2,MT-OHR,MT-ATT,MT-CR,MT-7SDNA","T-C","Control Region","+ / +","elderly fibroblasts, elderly/AD brains, POLG/PEO & control muscle, various tumors",".","7"148,148,"MT-HV2,MT-OHR,MT-ATT,MT-CR,MT-7SDNA","A-G","Control Region","- / +","control skeletal muscle",".","1"150,150,"MT-HV2,MT-OHR,MT-ATT,MT-CR,MT-7SDNA","C-T","Control Region","+ / +","elderly fibroblasts/leukocytes, lung, thyroid, prostate tumors",".","8"152,152,"MT-HV2,MT-OHR,MT-ATT,MT-CR,MT-7SDNA","T-C","Control Region","+ / +","elderly brains, elderly fibroblasts, ovarian carcinoma, breast tumor",".","5"159,159,"MT-HV2,MT-OHR,MT-ATT,MT-CR,MT-7SDNA","T-A","Control Region","- / +","POLG/PEO muscle",".","1"162,162,"MT-HV2,MT-OHR,MT-ATT,MT-CR,MT-7SDNA","C-G","Control Region","- / +","POLG/PEO muscle",".","2"168,168,"MT-HV2,MT-OHR,MT-ATT,MT-CR,MT-7SDNA","T-C","Control Region","- / +","control skeletal muscle",".","1"174,174,"MT-HV2,MT-OHR,MT-ATT,MT-CR,MT-7SDNA","C-T","Control Region","- / +","POLG/PEO muscle",".","4"178,178,"MT-HV2,MT-OHR,MT-ATT,MT-CR,MT-7SDNA","A-G","Control Region","- / +","POLG/PEO muscle",".","1"180,180,"MT-HV2,MT-OHR,MT-ATT,MT-CR,MT-7SDNA","T-C","Control Region","- / +","POLG/PEO muscle",".","1"182,182,"MT-HV2,MT-OHR,MT-ATT,MT-CR,MT-7SDNA","C-T","Control Region","- / +","POLG/PEO muscle",".","2"183,183,"MT-HV2,MT-OHR,MT-ATT,MT-CR,MT-7SDNA","A-G","Control Region","- / +","POLG/PEO muscle",".","2"185,185,"MT-HV2,MT-OHR,MT-ATT,MT-CR,MT-7SDNA","G-A","Control Region","+ / +","POLG/PEO muscle, thyroid tumor, glioblastoma",".","5"185,185,"MT-HV2,MT-OHR,MT-ATT,MT-CR,MT-7SDNA","G-C","Control Region","- / +","POLG/PEO muscle",".","1"186,186,"MT-HV2,MT-OHR,MT-ATT,MT-CR,MT-7SDNA","C-T","Control Region","- / +","POLG/PEO & MNGIE muscle",".","3"187,187,"MT-HV2,MT-OHR,MT-ATT,MT-CR,MT-7SDNA","G-A","Control Region","- / +","POLG/PEO muscle",".","1"188,188,"MT-HV2,MT-OHR,MT-ATT,MT-CR,MT-7SDNA","A-C","Control Region","- / +","POLG/PEO muscle",".","1"188,188,"MT-HV2,MT-OHR,MT-ATT,MT-CR,MT-7SDNA","A-G","Control Region","- / +","breast tumor",".","2"189,189,"MT-HV2,MT-OHR,MT-ATT,MT-CR,MT-7SDNA","A-G","Control Region","- / +","elderly muscle & brains, myocyte, POLG/PEO muscle & fibroblasts, various tumors",".","18"190,190,"MT-HV2,MT-OHR,MT-ATT,MT-CR,MT-7SDNA","C-T","Control Region","- / +","POLG/PEO muscle",".","1"191,191,"MT-HV2,MT-OHR,MT-ATT,MT-CR,MT-7SDNA","A-AA","Control Region","- / +","POLG/PEO muscle","insertion","1"191,191,"MT-HV2,MT-OHR,MT-ATT,MT-CR,MT-7SDNA","A-G","Control Region","- / +","POLG/PEO muscle",".","1"192,192,"MT-HV2,MT-OHR,MT-ATT,MT-CR","T-A","Control Region","- / +","POLG/PEO muscle",".","1"192,192,"MT-HV2,MT-OHR,MT-ATT,MT-CR","T-C","Control Region","- / +","POLG sample","Payne 2013","1"192,192,"MT-HV2,MT-OHR,MT-ATT,MT-CR","T-del","Control Region","- / +","POLG/PEO muscle","deletion","1"193,193,"MT-HV2,MT-OHR,MT-ATT,MT-CR","A-G","Control Region","+ / -","endometrial tumor",".","1"194,194,"MT-HV2,MT-OHR,MT-ATT,MT-CR","C-T","Control Region","- / +","POLG/PEO muscle",".","2"195,195,"MT-HV2,MT-OHR,MT-ATT,MT-CR","T-C","Control Region","+ / +","elderly fibroblasts, elderly/AD brains, tumors: lung, thyroid, ovarian, prostate, glioblastoma",".","10"196,196,"MT-HV2,MT-OHR,MT-ATT,MT-CR","T-C","Control Region","- / +","POLG sample","Payne 2013","1"199,199,"MT-HV2,MT-OHR,MT-ATT,MT-CR","T-C","Control Region","+ / +","ovarian carcinoma, POLG/MNGIE muscle",".","4"202,202,"MT-HV2,MT-OHR,MT-ATT,MT-CR","A-G","Control Region","- / +","POLG/PEO muscle",".","1"203,203,"MT-HV2,MT-OHR,MT-ATT,MT-CR","G-A","Control Region","+ / -","breast tumor, normal tissues",".","2"204,204,"MT-HV2,MT-OHR,MT-ATT,MT-CR","T-TT","Control Region","- / +","POLG/PEO muscle","insertion","1"204,204,"MT-HV2,MT-OHR,MT-ATT,MT-CR","T-C","Control Region","+ / +","various tumors / POLG",".","7"204,204,"MT-HV2,MT-OHR,MT-ATT,MT-CR","T-G","Control Region","+ / -","LHON fibroblasts",".","2"205,205,"MT-HV2,MT-OHR,MT-ATT,MT-CR","G-A","Control Region","+ / -","gastric carcinoma",".","1"206,206,"MT-HV2,MT-OHR,MT-ATT,MT-CR","T-C","Control Region","- / +","POLG/PEO & POLG/MNGIE muscle, prostate tumor",".","2"207,207,"MT-HV2,MT-OHR,MT-ATT,MT-CR","G-A","Control Region","+ / +","oral, prostate & thyroid tumors / OPA1 defect",".","6"209,209,"MT-HV2,MT-OHR,MT-ATT,MT-CR","T-G","Control Region","- / +","POLG/PEO muscle",".","1"211,211,"MT-HV2,MT-OHR,MT-ATT,MT-CR","A-C","Control Region","- / +","POLG/MNGIE muscle",".","1"211,211,"MT-HV2,MT-OHR,MT-ATT,MT-CR","A-G","Control Region","- / +","POLG/PEO muscle",".","1"213,213,"MT-HV2,MT-OHR,MT-CSB1,MT-ATT,MT-CR","T-C","Control Region","- / +","POLG/PEO muscle",".","1"214,214,"MT-HV2,MT-OHR,MT-CSB1,MT-ATT,MT-CR","A-G","Control Region","- / +","buccal cell / POLG and OPA1 patients",".","2"214,214,"MT-HV2,MT-OHR,MT-CSB1,MT-ATT,MT-CR","A-T","Control Region","- / +","POLG/PEO muscle",".","2"215,215,"MT-HV2,MT-OHR,MT-CSB1,MT-ATT,MT-CR","A-C","Control Region","- / +","control skeletal muscle",".","1"215,215,"MT-HV2,MT-OHR,MT-CSB1,MT-ATT,MT-CR","A-G","Control Region","+ / -","esophageal cancer / POLG defect",".","2"217,217,"MT-HV2,MT-OHR,MT-CSB1,MT-ATT,MT-CR","T-C","Control Region","- / +","OPA1 sample","Payne 2013","1"223,223,"MT-HV2,MT-OHR,MT-CSB1,MT-ATT,MT-CR","T-C","Control Region","- / +","POLG/PEO muscle",".","1"229,229,"MT-HV2,MT-OHR,MT-CSB1,MT-ATT,MT-CR","G-A","Control Region","- / +","control skeletal muscle",".","1"235,235,"MT-HV2,MT-OHR,MT-CSB1,MT-TFX,MT-ATT,MT-CR","A-G","Control Region","+ / -","prostate tumor / POLG and OPA1 patients",".","3"238,238,"MT-HV2,MT-OHR,MT-TFX,MT-ATT,MT-CR","A-G","Control Region","- / +","POLG sample","Payne 2013","1"239,239,"MT-HV2,MT-OHR,MT-TFX,MT-ATT,MT-CR","T-C","Control Region","- / +","POLG/PEO muscle, ovarian tumor",".","2"240,240,"MT-HV2,MT-OHR,MT-TFX,MT-ATT,MT-CR","A-G","Control Region","- / +","POLG/PEO muscle",".","2"241,241,"MT-HV2,MT-OHR,MT-TFX,MT-ATT,MT-CR","A-G","Control Region","- / +","POLG sample","Payne 2013","1"242,242,"MT-HV2,MT-OHR,MT-TFX,MT-ATT,MT-CR","C-T","Control Region","- / +","POLG/PEO muscle",".","1"244,244,"MT-HV2,MT-OHR,MT-TFX,MT-ATT,MT-CR","A-C","Control Region","- / +","POLG/PEO muscle",".","1"244,244,"MT-HV2,MT-OHR,MT-TFX,MT-ATT,MT-CR","A-del","Control Region","+ / +","prostate tumor","deletion","2"246,246,"MT-HV2,MT-OHR,MT-TFX,MT-ATT,MT-CR","T-C","Control Region","- / +","POLG sample","Payne 2013","1"249,249,"MT-HV2,MT-OHR,MT-TFX,MT-ATT,MT-CR","A-del","Control Region","+ / -","ovarian control tissue","deletion","1"249,249,"MT-HV2,MT-OHR,MT-TFX,MT-ATT,MT-CR","A-G","Control Region","- / +","elderly fibroblasts, POLG/PEO muscle",".","3"251,251,"MT-HV2,MT-OHR,MT-TFX,MT-ATT,MT-CR","G-A","Control Region","- / +","POLG/PEO muscle / control sample",".","2"251,251,"MT-HV2,MT-OHR,MT-TFX,MT-ATT,MT-CR","G-C","Control Region","- / +","buccal cell",".","1"252,252,"MT-HV2,MT-OHR,MT-TFX,MT-ATT,MT-CR","T-C","Control Region","- / +","buccal cell",".","1"253,253,"MT-HV2,MT-OHR,MT-TFX,MT-ATT,MT-CR","C-A","Control Region","- / +","POLG/PEO muscle",".","1"253,253,"MT-HV2,MT-OHR,MT-TFX,MT-ATT,MT-CR","C-T","Control Region","- / +","POLG/PEO & control muscle",".","2"254,254,"MT-HV2,MT-OHR,MT-TFX,MT-ATT,MT-CR","T-A","Control Region","- / +","POLG/PEO muscle",".","1"255,255,"MT-HV2,MT-OHR,MT-TFX,MT-ATT,MT-CR","G-A","Control Region","- / +","POLG sample","Payne 2013","1"260,260,"MT-HV2,MT-OHR,MT-TFX,MT-ATT,MT-CR","G-C","Control Region","- / +","POLG/MNGIE muscle",".","2"261,261,"MT-HV2,MT-OHR,MT-ATT,MT-CR","C-G","Control Region","- / +","POLG/PEO muscle, pituitary adenoma",".","1"261,261,"MT-HV2,MT-OHR,MT-ATT,MT-CR","C-T","Control Region","- / -","Pituitary adenoma",".","1"262,262,"MT-HV2,MT-OHR,MT-ATT,MT-CR","C-T","Control Region","- / +","POLG/PEO muscle",".","1"263,263,"MT-HV2,MT-OHR,MT-ATT,MT-CR","A-G","Control Region","- / +","POLG/MNGIE muscle / control sample",".","2"266,266,"MT-HV2,MT-OHR,MT-ATT,MT-CR","T-G","Control Region","- / +","POLG/PEO muscle",".","1"270,270,"MT-HV2,MT-OHR,MT-ATT,MT-CR","A-T","Control Region","- / +","elderly Down's Syndrome fibroblasts",".","1"273,273,"MT-HV2,MT-OHR,MT-ATT,MT-CR","C-T","Control Region","- / +","POLG/PEO muscle",".","2"277,277,"MT-HV2,MT-OHR,MT-TFY,MT-ATT,MT-CR","C-T","Control Region","- / +","POLG and control samples",".","2"279,279,"MT-HV2,MT-OHR,MT-TFY,MT-ATT,MT-CR","T-C","Control Region","- / +","OPA1 sample","Payne 2013","1"285,285,"MT-HV2,MT-OHR,MT-TFY,MT-ATT,MT-CR","C-T","Control Region","- / +","elderly fibroblasts",".","2"290,290,"MT-HV2,MT-OHR,MT-TFY,MT-ATT,MT-CR","AA-TT","Control Region","- / +","MNGIE fibroblasts","insertion","1"291,291,"MT-HV2,MT-OHR,MT-TFY,MT-ATT,MT-CR","A-del","Control Region","- / +","MNGIE fibroblasts","deletion","1"291,291,"MT-HV2,MT-OHR,MT-TFY,MT-ATT,MT-CR","A-G","Control Region","- / +","POLG/PEO & control muscle, MNGIE fibroblasts",".","2"291,291,"MT-HV2,MT-OHR,MT-TFY,MT-ATT,MT-CR","A-T","Control Region","- / +","MNGIE fibroblasts",".","1"292,292,"MT-HV2,MT-OHR,MT-TFY,MT-ATT,MT-CR","T-C","Control Region","- / +","POLG/PEO muscle, MNGIE fibroblasts",".","2"295,295,"MT-HV2,MT-OHR,MT-TFY,MT-ATT,MT-CR","C-T","Control Region","- / +","POLG/MNGIE muscle, glioblastoma",".","4"297,297,"MT-HV2,MT-OHR,MT-TFY,MT-ATT,MT-CR","A-G","Control Region","- / +","POLG/PEO muscle / control sample",".","2"297,348,"MT-HV2,MT-OHR,MT-TFY,MT-CSB2,MT-HPR,MT-CSB3,MT-ATT,MT-CR","50 bp deletion","Control Region","- / +","gastric cancer; healthy saliva, blood, & hair; elderly brains","deletion also reported as 306:357","2"298,298,"MT-HV2,MT-OHR,MT-TFY,MT-ATT,MT-CR","C-G","Control Region","- / +","control skeletal muscle",".","1"299,299,"MT-HV2,MT-OHR,MT-TFY,MT-CSB2,MT-ATT,MT-CR","C-T","Control Region","- / +","POLG and control samples","Payne 2013","1"303,315,"MT-HV2,MT-OHR,MT-TFY,MT-CSB2,MT-ATT,MT-CR","C(7-8)TC(5)","Control Region","+ / +","D310 / multiple tumor types","highly variable C tract \"D310\" insertion deletion","22"303,493,"MT-HV2,MT-OHR,MT-TFY,MT-CSB2,MT-HPR,MT-CSB3,MT-4H,MT-3H,MT-LSP,MT-TFL,MT-HV3,MT-ATT,MT-CR","~200 bp duplication","Control Region","- / +","elderly muscle","insertion","1"303,568,"MT-HV2,MT-OHR,MT-TFY,MT-CSB2,MT-HPR,MT-CSB3,MT-4H,MT-3H,MT-LSP,MT-TFL,MT-HV3,MT-TFH,MT-HSP1,MT-ATT,MT-CR","~260 bp duplication & triplication","Control Region","- / +","multiple tumor types, aging muscle, myopathic muscle","insertion","4"309,309,"MT-HV2,MT-OHR,MT-CSB2,MT-ATT,MT-CR","C-Cn","Control Region","- / +","buccal cell, colonic crypt","insertion deletion","3"309,309,"MT-HV2,MT-OHR,MT-CSB2,MT-ATT,MT-CR","C-T","Control Region","- / +","POLG/PEO muscle",".","1"310,310,"MT-HV2,MT-OHR,MT-CSB2,MT-ATT,MT-CR","T-C","Control Region","+ / +","normal buccal swab",".","2"310,310,"MT-HV2,MT-OHR,MT-CSB2,MT-ATT,MT-CR","T-del","Control Region","+ / -","breast tumor","deletion","1"313,313,"MT-HV2,MT-OHR,MT-CSB2,MT-ATT,MT-CR","C-T","Control Region","- / +","prostate tumor",".","2"315,315,"MT-HV2,MT-OHR,MT-CSB2,MT-ATT,MT-CR","C-T","Control Region","+ / +","POLG/PEO muscle, prostate tumor",".","3"316,316,"MT-HV2,MT-OHR,MT-ATT,MT-CR","G-CG","(= 315 C-CC)","+ / -","oral cancer","insertion","4"317,317,"MT-HV2,MT-OHR,MT-HPR,MT-ATT,MT-CR","C-T","Control Region","+ / -","ovarian tumor",".","1"318,318,"MT-HV2,MT-OHR,MT-HPR,MT-ATT,MT-CR","T-C","Control Region","- / +","POLG/PEO muscle",".","1"320,320,"MT-HV2,MT-OHR,MT-HPR,MT-ATT,MT-CR","C-T","Control Region","- / +","POLG/PEO muscle",".","1"324,324,"MT-HV2,MT-OHR,MT-ATT,MT-CR","C-G","Control Region","- / +","POLG/MNGIE muscle",".","1"325,325,"MT-HV2,MT-OHR,MT-ATT,MT-CR","C-T","Control Region","+ / -","thyroid tumor",".","2"333,333,"MT-HV2,MT-OHR,MT-ATT,MT-CR","T-C","Control Region","- / +","control skeletal muscle",".","1"334,334,"MT-HV2,MT-OHR,MT-ATT,MT-CR","T-C","Control Region","- / +","POLG/PEO muscle",".","1"335,335,"MT-HV2,MT-OHR,MT-ATT,MT-CR","A-G","Control Region","- / +","elderly Down's Syndrome fibroblasts",".","1"365,365,"MT-HV2,MT-OHR,MT-ATT,MT-CR","A-G","Control Region","- / +","control sample","Payne 2013","1"368,368,"MT-HV2,MT-OHR,MT-ATT,MT-CR","A-G","Control Region","- / +","colonic mucosa, elderly fibroblasts",".","2"375,375,"MT-OHR,MT-4H,MT-ATT,MT-CR","C-CC","Control Region","+ / -","colonic crypts","insertion","1"383,383,"MT-OHR,MT-ATT,MT-CR","T-TT","Control Region","- / +","elderly fibroblasts","insertion","1"385,385,"MT-OHR,MT-3H,MT-ATT,MT-CR","A-G","Control Region","+ / -","Twinkle/PEO frontal cortex / control sample",".","2"386,386,"MT-OHR,MT-3H,MT-ATT,MT-CR","C-A","Control Region","- / +","bladder tumor",".","2"396,396,"MT-OHR,MT-LSP,MT-ATT,MT-CR","A-G","Control Region","+ / -","pituitary oncocytoma",".","1"408,408,"MT-OHR,MT-LSP,MT-ATT,MT-CR","T-del","Control Region","- / +","Twinkle/PEO frontal cortex","deletion","1"408,408,"MT-OHR,MT-LSP,MT-ATT,MT-CR","T-A","Control Region","- / +","elderly muscle, POLG/PEO, Twinkle/PEO frontal cortex and muscle, normal tissues",".","10"410,410,"MT-OHR,MT-LSP,MT-ATT,MT-CR","G-A","Control Region","- / +","Twinkle/PEO eye muscle",".","1"411,411,"MT-OHR,MT-LSP,MT-ATT,MT-CR","C-T","Control Region","- / +","POLG OPA1 and control samples","Payne 2013","1"412,412,"MT-OHR,MT-LSP,MT-ATT,MT-CR","G-A","Control Region","- / +","Twinkle/PEO eye muscle",".","1"414,414,"MT-OHR,MT-LSP,MT-ATT,MT-CR","T-C","Control Region","- / +","AD brains / POLG OPA1 and control samples",".","2"414,414,"MT-OHR,MT-LSP,MT-ATT,MT-CR","T-G","Control Region","- / +","elderly fibroblasts, elderly muscle, POLG/PEO, Down's Syndrome, AD brains,oocytes, normal tissues",".","18"415,415,"MT-OHR,MT-LSP,MT-ATT,MT-CR","A-G","Control Region","- / +","Twinkle/PEO eye muscle",".","1"426,426,"MT-OHR,MT-LSP,MT-TFL,MT-ATT,MT-CR","A-G","Control Region","- / +","elderly Down's Syndrome fibroblasts",".","1"429,429,"MT-OHR,MT-LSP,MT-TFL,MT-ATT,MT-CR","G-A","Control Region","- / +","Twinkle/PEO eye muscle",".","1"437,437,"MT-OHR,MT-TFL,MT-ATT,MT-CR","C-T","Control Region","- / -","prostate tumor",".","1"455,455,"MT-HV3,MT-ATT,MT-CR","T-del","Control Region","- / +","various tumors","deletion","1"456,456,"MT-HV3,MT-ATT,MT-CR","C-T","Control Region","+ / -","thyroid tumor",".","2"460,460,"MT-HV3,MT-ATT,MT-CR","T-A","Control Region","- / +","elderly Down's Syndrome fibroblasts",".","1"460,460,"MT-HV3,MT-ATT,MT-CR","T-C","Control Region","+ / +","elderly Down's Syndrome fibroblasts, thyroid tumor",".","3"462,462,"MT-HV3,MT-ATT,MT-CR","C-T","Control Region","+ / -","thyroid tumor",".","2"466,466,"MT-HV3,MT-ATT,MT-CR","T-C","Control Region","- / +","alcoholic fatty liver",".","1"477,477,"MT-HV3,MT-ATT,MT-CR","T-C","Control Region","- / +","AD brains, ovarian tumor",".","2"481,481,"MT-HV3,MT-ATT,MT-CR","C-T","Control Region","+ / -","thyroid tumor",".","2"486,486,"MT-HV3,MT-ATT,MT-CR","C-T","Control Region","- / +","elderly Down's Syndrome fibroblasts",".","1"487,487,"MT-HV3,MT-ATT,MT-CR","A-G","Control Region","- / -","prostate tumor",".","1"489,489,"MT-HV3,MT-ATT,MT-CR","T-C","Control Region","+ / +","ovarian carcinoma, prostate tumor",".","3"497,497,"MT-HV3,MT-ATT,MT-CR","C-T","Control Region","+ / -","thyroid tumor",".","2"499,499,"MT-HV3,MT-ATT,MT-CR","G-A","Control Region","+ / -","thyroid & prostate tumors",".","3"507,507,"MT-HV3,MT-CR","T-A","Control Region","- / +","Twinkle/PEO skeletal muscle",".","1"514,514,"MT-HV3,MT-CR","C-CCG","Control Region","+ / -","head/neck tumor","insertion","1"514,523,"MT-HV3,MT-TFH,MT-CR","(CA)(5-7)","Control Region","+ / +","ovarian carcinoma & control tissue, thyroid, prostate & breast tumors","variable CA repeat region insertion deletion","5"516,516,"MT-HV3,MT-CR","C-T","Control Region","- / +","normal breast",".","1"523,524,"MT-HV3,MT-TFH,MT-CR","AC-del","Control Region","- / +","Twinkle/PEO eye muscle","deletion","1"531,531,"MT-HV3,MT-TFH,MT-CR","T-C","Control Region","- / -","ovarian tumor",".","1"538,538,"MT-HV3,MT-TFH,MT-CR","A-G","Control Region","- / +","Twinkle/PEO skeletal muscle",".","1"540,540,"MT-HV3,MT-TFH,MT-CR","A-G","Control Region","- / +","Twinkle/PEO skeletal & eye muscle",".","1"549,549,"MT-HV3,MT-TFH,MT-HSP1,MT-CR","C-T","Control Region","+ / -","thyroid tumor",".","2"556,556,"MT-HV3,MT-HSP1,MT-CR","A-G","Control Region","- / +","Twinkle/PEO eye muscle",".","1"559,559,"MT-HV3,MT-HSP1,MT-CR","C-T","Control Region","+ / +","Twinkle/PEO skeletal muscle, pituitary oncocytoma",".","2"564,564,"MT-HV3,MT-HSP1,MT-CR","G-A","Control Region","- / +","Twinkle/PEO skeletal muscle, pituitary oncocytoma, normal tissues, colonic crypts",".","4"565,565,"MT-HV3,MT-HSP1,MT-CR","A-G","Control Region","+ / -","ovarian tumor",".","1"567,567,"MT-HV3,MT-HSP1,MT-CR","A-C","Control Region","- / +","ovarian tumor",".","1"573,573,"MT-HV3,MT-CR","C-CCC","Control Region","+ / -","multiple tumor types","insertion","3"573,573,"MT-HV3,MT-CR","C-CC","Control Region","- / +","Twinkle/PEO frontal cortex","insertion","1"584,4442,"MT-TF,MT-HSP2,MT-RNR1,MT-TV,MT-RNR2,MT-Hum,MT-RNR3,MT-TER,MT-TL1,MT-NC1,MT-ND1,MT-TI,MT-TQ,MT-NC2,MT-TM","(N)ins","multiple","- / +","elderly muscle","3857-bp 'HSP' deletion","1"586,586,"MT-TF","G-A","tRNA","+ / +","colonic crypts, ovarian tumor",".","2"616,616,"MT-TF","T-C","tRNA","- / +","MNGIE fibroblasts",".","1"664,664,"MT-RNR1","G-A","rRNA","+ / -","ovarian carcinoma, breast tumor",".","3"687,687,"MT-RNR1","G-A","rRNA","+ / -","pancreatic cancer cell line",".","1"709,709,"MT-RNR1","G-A","rRNA","- / -","thyroid carcinoma (NI-EFVPTC)",".","1"710,710,"MT-RNR1","T-C","rRNA","+ / -","colorectal tumor",".","2"879,879,"MT-RNR1","T-C","rRNA","- / +","colonic crypts",".","1"943,943,"MT-RNR1","G-A","rRNA","+ / -","colonic crypts",".","1"1040,1040,"MT-RNR1","T-C","rRNA","- / -","MNGIE fibroblasts",".","1"1097,1097,"MT-RNR1","G-A","rRNA","+ / -","colonic crypts",".","1"1243,1243,"MT-RNR1","T-C","rRNA","+ / -","pancreatic cancer cell line",".","1"1289,1289,"MT-RNR1","G-C","rRNA","+ / -","colonic crypts",".","1"1320,1320,"MT-RNR1","G-A","rRNA","- / +","normal breast",".","1"1401,1401,"MT-RNR1","G-A","rRNA","+ / -","ovarian carcinoma",".","2"1406,1406,"MT-RNR1","T-C","rRNA","+ / -","pancreatic cancer cell line",".","1"1474,1474,"MT-RNR1","G-A","rRNA","- / +","endometrial and ovarian tumors",".","1"1586,1586,"MT-RNR1","G-A","rRNA","- / +","colonic crypts",".","1"1676,1676,"MT-RNR2","A-G","rRNA","+ / -","pancreatic cancer cell line",".","1"1721,1721,"MT-RNR2","C-T","rRNA","+ / +","acute leukemia platelets, leukocytes & bone marrow","Heteroplasmic in acute leukemia, homoplasmic or absent in earlier stage.","1"1738,1738,"MT-RNR2","T-C","rRNA","+ / -","colorectal tumor",".","2"1811,1811,"MT-RNR2","A-G","rRNA","+ / -","head/neck tumor",".","2"1831,1831,"MT-RNR2","G-A","rRNA","- / +","colonic crypts",".","1"1843,1843,"MT-RNR2","T-C","rRNA","- / +","fibroblast cybrid cell line",".","1"1900,1900,"MT-RNR2","A-G","rRNA","- / +","various tumors","","1"1924,1924,"MT-RNR2","T-C","rRNA","- / +","colon tumor",".","1"1940,1940,"MT-RNR2","A-G","rRNA","- / +","fibroblast cybrid cell line",".","1"1952,1952,"MT-RNR2","T-C","rRNA","+ / -","ovarian carcinoma",".","2"1967,1967,"MT-RNR2","T-C","rRNA","- / +","colorectal tumor",".","2"2015,2015,"MT-RNR2","G-A","rRNA","+ / -","pancreatic cancer cell line",".","1"2056,2056,"MT-RNR2","G-A","rRNA","+ / +","bladder tumor, acute leukemia platelets/leukocytes/bone marrow","Heteroplasmic in acute leukemia, homoplasmic or absent in earlier stage.","3"2222,2222,"MT-RNR2","T-C","rRNA","+ / -","pancreatic cancer cell line",".","1"2233,2233,"MT-RNR2","T-A","rRNA","- / -","MNGIE fibroblasts",".","1"2275,2275,"MT-RNR2","T-C","rRNA","- / +","colonic crypts",".","1"2299,2299,"MT-RNR2","T-A","rRNA","- / +","colorectal tumor",".","2"2445,2445,"MT-RNR2","T-C","rRNA","+ / -","bladder tumor",".","2"2623,2623,"MT-RNR2","A-G","rRNA","- / +","fibroblast cybrid cell line",".","1"2643,2643,"MT-RNR2,MT-Hum","G-C","rRNA","- / +","colonic crypts",".","1"2664,2664,"MT-RNR2,MT-Hum","T-C","rRNA","+ / -","lung tumor",".","2"2675,2675,"MT-RNR2,MT-Hum","G-A","rRNA","- / +","breast tumor",".","1"2680,2680,"MT-RNR2,MT-Hum","T-C","rRNA","- / +","endometrial and ovarian tumors",".","1"2699,2699,"MT-RNR2,MT-Hum","C-G","rRNA","- / +","breast tumor",".","1"2724,2724,"MT-RNR2","G-C","rRNA","- / +","breast tumor",".","1"2756,2756,"MT-RNR2","C-T","rRNA","- / -","Pituitary adenoma",".","1"2805,2805,"MT-RNR2","A-T","rRNA","+ / -","pancreatic cancer cell line xenograf, MNGIE fibroblasts",".","2"2815,2815,"MT-RNR2","G-A","rRNA","- / +","colonic crypts",".","1"2905,2905,"MT-RNR2","A-G","rRNA","+ / -","pancreatic cancer cell line",".","1"2916,2916,"MT-RNR2","G-A","rRNA","- / +","colonic crypts",".","1"2923,2923,"MT-RNR2","G-A","rRNA","+ / -","prostate tumor",".","2"2998,2998,"MT-RNR2","T-TT","rRNA","+ / -","lung tumor","insertion","1"3014,3014,"MT-RNR2","G-A","rRNA","+ / -","colonic crypts",".","1"3054,3054,"MT-RNR2","G-A","rRNA","+ / -","bladder tumor",".","2"3094,3094,"MT-RNR2","G-A","rRNA","- / +","colonic crypts",".","1"3232,3236,"MT-TER,MT-TL1","TAAG-T","tRNA","- / +","elderly muscle","3-bp deletion","1"3242,3242,"MT-TER,MT-TL1","G-A","tRNA","nr / nr","elderly brain",".","1"3243,3243,"MT-TER,MT-TL1","A-G","tRNA","+ / +","elderly brain, elderly muscle, colon tumor, oncocytoma",".","6"3244,3244,"MT-TER,MT-TL1","G-A","tRNA","+ / +","elderly brain,gastric carcinoma, lung tumor, thyroid oncocytoma",".","4"3308,3308,"MT-ND1","T-C","M-T","+ / -","colorectal tumor",".","2"3323,3588,"MT-ND1","(N)ins","multiple","- / +","renal cell carcinoma","264-bp deletion, alternate position 3326:3591","1"3357,3357,"MT-ND1","G-A","M-M","+ / -","prostate tumor",".","2"3386,3386,"MT-ND1","T-C","I-T","- / +","MNGIE tissues",".","1"3394,3394,"MT-ND1","T-C","Y-H","+ / +","acute leukemia platelets, leukocytes & bone marrow, various tumors","Heteroplasmic in acute leukemia, homoplasmic or absent in earlier stage.","2"3398,3398,"MT-ND1","T-C","M-T","+ / -","colon cancer",".","1"3421,3421,"MT-ND1","G-A","V-I","+ / -","pancreatic cancer cell line",".","1"3425,3425,"MT-ND1","T-C","V-A","- / +","endometrial tumor",".","1"3434,3434,"MT-ND1","A-G","Y-C","+ / -","prostate tumor",".","2"3436,3436,"MT-ND1","G-A","G-Ter","- / +","head/neck tumor",".","1"3470,3470,"MT-ND1","T-C","L-P","- / +","endometrial tumor",".","1"3480,3480,"MT-ND1","A-G","K-K","+ / -","prostate tumor",".","2"3487,3487,"MT-ND1","C-T","L-L","- / -","pituitary oncocytoma",".","1"3497,3497,"MT-ND1","C-T","A-V","+ / -","adenocarcinoma, squamous cell carcinoma, colon cancer, lung cancer","","1"3505,3505,"MT-ND1","A-G","T-A","+ / -","pancreatic cancer cell line, prostate tumor",".","3"3526,3526,"MT-ND1","G-A","A-T","+ / -","thyroid tumor",".","2"3571,3571,"MT-ND1","C-del","frameshift","+ / -","oncocytoma","deletion","1"3571,3571,"MT-ND1","C-CC","frameshift","- / +","various tumors","insertion","4"3594,3594,"MT-ND1","C-T","V-V","+ / -","thyroid tumor",".","2"3653,3653,"MT-ND1","T-C","I-T","- / -","MNGIE fibroblasts",".","1"3654,3654,"MT-ND1","C-T","I-I","+ / -","pancreatic cancer cell line",".","1"3670,3670,"MT-ND1","G-A","A-T","+ / -","pancreatic cancer cell line xenograft / endometrial tumor",".","2"3679,3679,"MT-ND1","T-C","S-P","- / +","head/neck tumor",".","1"3689,3689,"MT-ND1","C-G","A-G","+ / +","adenocarcinoma, colon cancer, lung cancer","","1"3709,3709,"MT-ND1","G-A","A-T","+ / +","adenocarcinoma, lung cancer","","1"3730,3730,"MT-ND1","T-C","Y-H","- / +","endometrial tumor",".","1"3901,3901,"MT-ND1","G-A","D-N","- / -","thyroid carcinoma (NI-EFVPTC)",".","1"3910,3910,"MT-ND1","G-A","E-K","+ / -","thyroid tumor",".","2"3918,3918,"MT-ND1","G-A","E-E","- / -","breast tumor",".","2"3922,3922,"MT-ND1","G-A","E-K","+ / -","various tumors",".","2"3931,3931,"MT-ND1","T-C","S-P","- / +","head/neck tumor",".","1"3949,3949,"MT-ND1","T-C","Y-H","- / -","thyroid oncocytoma",".","1"3951,3951,"MT-ND1","C-T","Y-Y","- / -","pituitary oncocytoma",".","1"3955,3955,"MT-ND1","G-A","A-T","+ / +","adenocarcinoma, colon cancer","","1"3992,3992,"MT-ND1","C-T","T-M","+ / -","thyroid tumor",".","2"4028,4028,"MT-ND1","T-C","I-T","- / -","MNGIE fibroblasts",".","1"4048,4048,"MT-ND1","G-A","D-N","- / +","colon tumor",".","1"4160,4160,"MT-ND1","T-A","L-H","- / -","MNGIE fibroblasts",".","1"4188,4188,"MT-ND1","A-G","L-L","+ / -","breast cyst",".","1"4216,4216,"MT-ND1","T-C","Y-H","+ / +","acute leukemia platelets, leukocytes & bone marrow","Heteroplasmic in acute leukemia, homoplasmic or absent in earlier stage.","1"4296,4296,"MT-TI","G-A","tRNA","+ / -","pituitary oncocytoma",".","1"4309,4309,"MT-TI","G-A","tRNA","- / -","thyroid oncocytoma",".","1"4312,4312,"MT-TI","C-T","tRNA","+ / -","thyroid tumor",".","2"4370,4370,"MT-TQ","T-C","tRNA","- / +","MNGIE fibroblasts",".","1"4398,14822,"MT-TQ,MT-NC2,MT-TM,MT-ND2,MT-TW,MT-NC3,MT-TA,MT-NC4,MT-TN,MT-OLR,MT-TC,MT-TY,MT-NC5,MT-CO1,MT-TS1,MT-NC6,MT-TD,MT-CO2,MT-NC7,MT-TK,MT-NC8,MT-ATP8,MT-ATP6,MT-CO3,MT-TG,MT-ND3,MT-TR,MT-ND4L,MT-ND4,MT-TH,MT-TS2,MT-TL2,MT-ND5,MT-ND6,MT-TE,MT-NC9,MT-CYB","(N)ins","multiple","- / +","elderly muscle","10422-bp deletion","2"4399,4399,"MT-TQ","T-C","tRNA","+ / -","colonic crypts",".","1"4421,4421,"MT-TM","G-A","tRNA","- / +","elderly muscle",".","1"4429,4429,"MT-TM","G-A","tRNA","- / +","various tumors","","1"4446,4446,"MT-TM","G-A","tRNA","- / +","colonic crypts",".","1"4460,4460,"MT-TM","T-C","tRNA","- / +","elderly muscle",".","1"4550,4550,"MT-ND2","T-C","F-F","+ / -","colonic crypts",".","1"4569,4569,"MT-ND2","G-A","E-K","- / +","various tumors","","1"4580,4580,"MT-ND2","G-A","M-M","+ / -","pancreatic cancer cell line",".","1"4605,4605,"MT-ND2","A-G","K-E","- / -","head/neck tumor",".","1"4613,4613,"MT-ND2","A-G","M-M","+ / -","thyroid tumor",".","2"4646,4646,"MT-ND2","T-C","Y-Y","+ / -","glioblastoma",".","1"4722,4722,"MT-ND2","A-G","T-A","- / +","endometrial and ovarian tumors",".","1"4788,4788,"MT-ND2","G-A","G-Ter","- / +","colonic crypts",".","1"4811,4811,"MT-ND2","A-G","W-W","+ / -","pancreatic cancer cell line",".","1"4831,4831,"MT-ND2","G-A","G-D","+ / +","oncocytomas",".","3"4940,4940,"MT-ND2","C-T","L-L","+ / -","thyroid tumor",".","2"4969,4969,"MT-ND2","G-C","W-S","- / +","various tumors","","1"4985,4985,"MT-ND2","A-G","Q-Q","+ / -","thyroid tumor",".","2"4986,4986,"MT-ND2","A-G","T-A","- / +","colonic crypts",".","1"4986,4986,"MT-ND2","A-C","T-P","- / +","oral cancer",".","1"5026,5026,"MT-ND2","A-G","H-R","- / +","oral cancer",".","1"5132,5135,"MT-ND2","AA-del","frameshift","+ / -","skeletal muscle - myopathy","deletion","3"5140,5140,"MT-ND2","G-A","S-N","+ / -","colonic crypts",".","1"5164,5164,"MT-ND2","G-A","R-H","- / +","colonic crypts",".","1"5198,5198,"MT-ND2","A-G","L-L","+ / -","glioblastoma",".","1"5212,5212,"MT-ND2","T-C","L-P","+ / -","endometrial tumor",".","1"5231,5231,"MT-ND2","G-A","L-L","+ / -","endometrium control tissue","Normal in paired tumor tissue","1"5251,5251,"MT-ND2","T-del","frameshift","+ / -","parotid oncocytoma","deletion","1"5260,5260,"MT-ND2","G-A","W-Ter","+ / -","parotid oncocytoma",".","1"5298,5298,"MT-ND2","A-G","I-V","+ / -","papillary thyroid carcinoma",".","1"5411,5411,"MT-ND2","A-del","frameshift","+ / -","papillary thyroid carcinoma","deletion","1"5412,5412,"MT-ND2","T-C","W-R","- / -","thyroid carcinoma (NI-EFVPTC)",".","1"5480,5480,"MT-ND2","A-C","L-L","- / +","aged substantia nigra neurons",".","1"5517,5517,"MT-TW","T-C","tRNA","- / -","MNGIE fibroblasts",".","1"5521,5521,"MT-TW","G-A","tRNA","+ / -","lung tumor, oncocytoma",".","3"5567,5567,"MT-TW","T-C","tRNA","- / +","endometrial and ovarian tumors",".","1"5628,5628,"MT-TA","T-A","tRNA","- / -","MNGIE tissues",".","1"5628,5628,"MT-TA","T-C","tRNA","- / -","MNGIE fibroblasts",".","1"5633,5633,"MT-TA","C-T","tRNA","+ / -","thyroid tumor",".","2"5738,5738,"MT-OLR","G-C","OLR","- / +","various tumors","","1"5767,5767,"MT-OLR,MT-TC","C-T","tRNA","- / +","various tumors","","1"5788,16071,"MT-OLR,MT-TC,MT-TY,MT-NC5,MT-CO1,MT-TS1,MT-NC6,MT-TD,MT-CO2,MT-NC7,MT-TK,MT-NC8,MT-ATP8,MT-ATP6,MT-CO3,MT-TG,MT-ND3,MT-TR,MT-ND4L,MT-ND4,MT-TH,MT-TS2,MT-TL2,MT-ND5,MT-ND6,MT-TE,MT-NC9,MT-CYB,MT-TT,MT-NC10,MT-TP,MT-HV1,MT-ATT,MT-CR","(N)ins","multiple","- / +","elderly muscle","10282-bp deletion","1"5814,5814,"MT-TC","T-C","tRNA","- / +","MNGIE tissues",".","2"5843,5843,"MT-TY","A-G","tRNA","+ / +","acute leukemia platelets, leukocytes & bone marrow","Heteroplasmic in acute leukemia, homoplasmic or absent in earlier stage.","1"5888,5888,"MT-TY","T-del","tRNA","- / +","CPEO muscle","single nucleotide deletion","1"5892,5892,"MT-NC5","T-C","Control Region","+ / -","colonic crypts",".","1"5918,5918,"MT-CO1","T-C","R-R","+ / -","pancreatic cancer cell line",".","1"5920,5920,"MT-CO1","G-A","W-Ter","+ / -","skeletal muscle - myopathy",".","1"5949,5949,"MT-CO1","G-A","G-Ter","- / +","prostate tumor",".","1"5958,5958,"MT-CO1","T-C","Y-H","+ / -","colonic crypt clone","","1"5973,5973,"MT-CO1","G-A","A-T","+ / -","pancreatic cancer cell line",".","1"5999,5999,"MT-CO1","T-C","A-A","+ / -","pancreatic cancer cell line, glioblastoma",".","2"6047,6047,"MT-CO1","A-G","L-L","+ / -","pancreatic cancer cell line, glioblastoma",".","2"6124,6124,"MT-CO1","T-C","M-T","- / +","prostate tumor / simvastatin resistance",".","3"6129,6129,"MT-CO1","G-A","G-Ter","+ / +","endometrial tumor, renal oncocytoma",".","2"6146,6146,"MT-CO1","A-G","W-W","+ / -","pancreatic cancer cell line",".","1"6173,16078,"MT-CO1,MT-TS1,MT-NC6,MT-TD,MT-CO2,MT-NC7,MT-TK,MT-NC8,MT-ATP8,MT-ATP6,MT-CO3,MT-TG,MT-ND3,MT-TR,MT-ND4L,MT-ND4,MT-TH,MT-TS2,MT-TL2,MT-ND5,MT-ND6,MT-TE,MT-NC9,MT-CYB,MT-TT,MT-NC10,MT-TP,MT-HV1,MT-ATT,MT-CR","(N)ins","multiple","- / +","elderly muscle","9904-bp deletion","1"6210,6210,"MT-CO1","T-C","W-R","- / +","head/neck tumor",".","1"6264,6264,"MT-CO1","G-A","G-Ter","+ / -","colorectal tumor",".","1"6267,6267,"MT-CO1","G-A","A-T","+ / -","pancreatic cancer cell line",".","1"6277,6277,"MT-CO1","G-A","G-D","+ / -","colonic crypts",".","2"6473,6473,"MT-CO1","C-T","I-I","+ / -","thyroid tumor",".","2"6490,6490,"MT-CO1","T-C","L-P","- / +","various tumors","","1"6495,6495,"MT-CO1","T-C","S-P","- / +","colon tumor","","1"6562,6562,"MT-CO1","T-C","F-S","- / +","endometrial tumor, colonic mucosa",".","1"6563,6563,"MT-CO1","C-T","F-F","- / +","colonic mucosa","","1"6564,6564,"MT-CO1","G-A","D-N","- / +","colonic mucosa","","1"6564,6564,"MT-CO1","G-T","D-Y","- / +","colonic mucosa","","1"6565,6565,"MT-CO1","A-G","D-G","- / +","colonic mucosa","","1"6569,6569,"MT-CO1","C-del","frameshift","- / +","colonic mucosa","deletion","1"6650,6650,"MT-CO1","A-C","P-P","+ / -","thyroid tumor",".","2"6698,6698,"MT-CO1","A-del","frameshift","+ / -","colonic crypts","deletion","1"6707,6707,"MT-CO1","T-C","F-F","- / -","pituitary adenoma",".","1"6721,6721,"MT-CO1","T-C","M-T","- / +","bone marrow, whole blood, platelets, granulocytes","AISA (acquired idiopathic sideroblastic anemia) patient","3"6742,6742,"MT-CO1","T-C","I-T","- / +","bone marrow, whole blood, platelets, granulocytes","AISA patient","3"6776,6776,"MT-CO1","T-C","H-H","+ / -","breast cystic masses",".","1"6822,6822,"MT-CO1","T-A","S-T","- / +","endometrial tumor",".","1"6849,6849,"MT-CO1","A-G","T-A","+ / +","lymphoblast cell line",".","1"6852,6852,"MT-CO1","G-A","G-S","- / -","colonic crypts",".","1"6855,6855,"MT-CO1","G-A","V-I","- / -","pituitary oncocytoma",".","1"6869,6869,"MT-CO1","C-T","S-S","+ / -","pancreatic cancer cell line",".","1"6924,6924,"MT-CO1","G-T","A-S","- / +","prostate tumor",".","2"6930,6930,"MT-CO1","G-A","G-Ter","- / -","thyroid carcinoma (NI-EFVPTC)",".","1"6937,6937,"MT-CO1","T-C","I-T","+ / -","colonic crypts",".","1"6991,6991,"MT-CO1","T-C","L-P","- / +","endometrial tumor",".","1"7013,7013,"MT-CO1","G-A","T-T","- / +","colonic crypts",".","1"7053,7053,"MT-CO1","G-A","G-Ter","+ / -","colonic crypts",".","1"7055,7055,"MT-CO1","A-G","G-G","- / -","MNGIE fibroblasts",".","1"7065,7065,"MT-CO1","G-A","A-T","+ / -","colonic crypts",".","1"7090,7090,"MT-CO1","G-A","W-Ter","+ / -","colonic crypts",".","1"7103,7103,"MT-CO1","C-T","F-F","+ / -","thyroid tumor",".","2"7151,7151,"MT-CO1","C-T","I-I","+ / -","pancreatic cancer cell line",".","1"7222,7222,"MT-CO1","A-G","Y-C","- / +","muscle- pt with weakness, peripheral neuropathy, ptosis",".","1"7275,7275,"MT-CO1","T-C","S-P","+ / -","colonic crypts",".","1"7406,7406,"MT-CO1","C-CCCC","P-PP","- / +","head/neck tumor","insertion","1"7440,7440,"MT-CO1","T-C","S-P","- / -","MNGIE fibroblasts",".","1"7476,7476,"MT-TS1","C-T","tRNA","+ / -","thyroid hyperplasia",".","1"7521,7521,"MT-TD","G-A","tRNA","+ / -","thyroid tumor",".","2"7627,8195,"MT-CO2","[AGCT](569)","stop codon","+ / -","thyroid tumor","deletion","1"7631,8203,"MT-CO2","[AGCT](569)","del 191 aa","+ / -","thyroid tumor","deletion","1"7775,7775,"MT-CO2","G-A","V-I","+ / +","colonic crypts, thyroid tumor",".","2"7785,7785,"MT-CO2","T-C","I-T","+ / -","thyroid tumor",".","2"7819,7819,"MT-CO2","C-A","L-L","+ / -","thyroid tumor",".","2"7842,13904,"MT-CO2,MT-NC7,MT-TK,MT-NC8,MT-ATP8,MT-ATP6,MT-CO3,MT-TG,MT-ND3,MT-TR,MT-ND4L,MT-ND4,MT-TH,MT-TS2,MT-TL2,MT-ND5","(N)ins","multiple","- / +","aging liver","6063-bp deletion","2"7873,7873,"MT-CO2","C-T","T-T","+ / -","thyroid tumor",".","2"7901,7901,"MT-CO2","T-C","W-R","+ / -","colonic crypts",".","1"7962,7962,"MT-CO2","T-C","L-S","- / +","endometrial tumor",".","1"7986,7986,"MT-CO2","G-T","R-L","+ / -","pancreatic cancer cell line",".","1"8009,8009,"MT-CO2","G-A","V-M","+ / -","colorectal tumor",".","3"8102,8102,"MT-CO2","G-A","D-N","- / +","colon tumor",".","1"8108,8108,"MT-CO2","A-G","I-V","- / -","MNGIE fibroblasts",".","1"8154,8154,"MT-CO2","G-A","G-E","+ / -","colonic crypts",".","1"8344,8344,"MT-TK","A-G","tRNA","- / +","bone marrow, elderly muscle","AISA patient","3"8367,8367,"MT-ATP8","T-C","M-T","- / -","MNGIE fibroblasts",".","1"8374,8374,"MT-ATP8","A-G","Q-Q","- / -","pituitary adenoma",".","1"8469,13447,"MT-ATP8,MT-ATP6,MT-CO3,MT-TG,MT-ND3,MT-TR,MT-ND4L,MT-ND4,MT-TH,MT-TS2,MT-TL2,MT-ND5","(N)ins","multiple","- / +","CPEO, elderly brain, elderly muscle, elderly temporal bone, deafness, myopathic muscle, kidney disease, sunbed exposure, photoaged skin, breast cancer","the 'common' deletion. Also reported as 8482:13460","41"8483,16084,"MT-ATP8,MT-ATP6,MT-CO3,MT-TG,MT-ND3,MT-TR,MT-ND4L,MT-ND4,MT-TH,MT-TS2,MT-TL2,MT-ND5,MT-ND6,MT-TE,MT-NC9,MT-CYB,MT-TT,MT-NC10,MT-TP,MT-HV1,MT-TAS2,MT-ATT,MT-CR","(N)ins","multiple","- / +","aging liver, muscle, testis","7436-bp deletion","2"8545,8545,"MT-ATP8,MT-ATP6","G-A","ATP8:S-S ATP6:A-T","+ / -","endometrial tumor",".","1"8557,8557,"MT-ATP8,MT-ATP6","G-A","ATP8:L-L ATP6:A-T","+ / -","colonic crypts",".","1"8572,8572,"MT-ATP8,MT-ATP6","G-A","ATP8:Ter-Ter ATP6:G-S","+ / -","colonic crypts, hyperplastic thyroid nodule",".","1"8617,8617,"MT-ATP6","A-G","I-V","+ / +","acute leukemia platelets, leukocytes & bone marrow","Heteroplasmic in acute leukemia, homoplasmic or absent in earlier stage.","1"8696,8696,"MT-ATP6","T-C","M-T","+ / -","pancreatic cancer cell line",".","1"8697,8697,"MT-ATP6","G-A","M-M","+ / -","thyroid tumor",".","2"8701,8701,"MT-ATP6","A-G","T-A","+ / -","thyroid tumors",".","3"8706,8706,"MT-ATP6","A-G","M-M","+ / -","thyroid tumor",".","2"8716,8716,"MT-ATP6","A-G","K-E","+ / -","thyroid tumor",".","2"8723,9215,"MT-ATP6,MT-CO3","(N)ins","multiple","- / +","alcoholic blood","deletion","1"8783,8783,"MT-ATP6","G-A","G-E","- / +","colon tumor",".","1"8803,8803,"MT-ATP6","A-G","T-A","+ / -","head/neck tumor",".","1"8832,8832,"MT-ATP6","A-G","L-L","- / -","pituitary adenoma",".","1"8930,8930,"MT-ATP6","C-T","T-M","- / -","pituitary adenoma",".","1"9030,9030,"MT-ATP6","C-T","H-H","+ / -","thyroid tumor",".","2"9058,9058,"MT-ATP6","A-G","T-A","- / +","breast tumor",".","1"9060,9060,"MT-ATP6","C-T","T-T","- / -","pituitary tumors",".","1"9070,9070,"MT-ATP6","T-G","S-A","+ / -","pancreatic cancer cell line",".","1"9078,9078,"MT-ATP6","T-C","I-I","+ / -","pancreatic cancer cell line",".","1"9110,9110,"MT-ATP6","T-C","I-T","- / -","MNGIE fibroblasts",".","1"9137,9137,"MT-ATP6","T-C","I-T","+ / -","thyroid tumor",".","2"9196,9196,"MT-ATP6","G-A","D-N","- / +","colon tumor","","1"9254,9254,"MT-CO3","A-G","W-W","+ / -","pancreatic cancer cell line",".","1"9261,9261,"MT-CO3","A-G","T-A","- / -","pituitary adenoma",".","1"9296,9296,"MT-CO3","C-T","G-G","+ / -","thyroid tumor",".","2"9342,9342,"MT-CO3","G-A","G-S","- / +","OPA1 sample","Payne 2013","1"9368,9368,"MT-CO3","A-G","M-M","+ / -","pancreatic cancer cell line",".","1"9377,9377,"MT-CO3","A-G","W-W","- / +","control sample","Payne 2013","1"9384,9384,"MT-CO3","G-A","D-N","- / +","OPA1 sample","Payne 2013","1"9386,9386,"MT-CO3","T-C","D-D","- / +","control sample","Payne 2013","1"9398,9398,"MT-CO3","A-G","E-E","- / +","breast tumor",".","1"9436,15913,"MT-CO3,MT-TG,MT-ND3,MT-TR,MT-ND4L,MT-ND4,MT-TH,MT-TS2,MT-TL2,MT-ND5,MT-ND6,MT-TE,MT-NC9,MT-CYB,MT-TT","(N)ins","multiple","- / +","elderly muscle","6476-bp deletion","1"9477,9477,"MT-CO3","G-T","V-F","+ / -","thyroid tumor",".","2"9477,9477,"MT-CO3","G-A","V-I","+ / -","thyroid tumor",".","3"9489,9489,"MT-CO3","G-A","A-T","+ / -","colonic crypts",".","1"9537,9537,"MT-CO3","C-CC","frameshift","+ / -","colonic crypts","insertion","1"9537,9537,"MT-CO3","C-del","frameshift","+ / -","colonic crypts","deletion","1"9540,9540,"MT-CO3","T-C","L-L","- / -","tumor / OPA1 and control samples",".","2"9543,9543,"MT-CO3","G-A","G-Ter","- / +","colonic crypts",".","1"9544,9544,"MT-CO3","G-A","G-E","+ / -","colonic crypts / OPA1 sample",".","2"9545,9545,"MT-CO3","A-G","G-G","- / +","POLG OPA1 and control samples","Payne 2013","1"9547,9547,"MT-CO3","G-A","G-E","+ / -","cloned platelet mtDNA",".","1"9548,9548,"MT-CO3","G-A","G-G","- / +","POLG and OPA1 samples","Payne 2013","1"9565,9565,"MT-CO3","G-A","G-D","- / +","OPA1 sample","Payne 2013","1"9575,9575,"MT-CO3","G-C","P-P","+ / -","thyroid tumor",".","2"9651,9651,"MT-CO3","C-T","H-Y","- / +","various tumors","","1"9655,9655,"MT-CO3","G-A","S-N","+ / -","thyroid tumor",".","2"9691,9691,"MT-CO3","C-T","A-V","+ / -","thyroid tumor",".","2"9746,9746,"MT-CO3","G-A","E-E","+ / -","thyroid tumor",".","2"9758,9758,"MT-CO3","T-C","S-S","- / -","MNGIE fibroblasts",".","1"9774,9774,"MT-CO3","G-A","D-N","+ / -","colonic crypts",".","1"9804,9804,"MT-CO3","G-A","A-T","+ / -","pancreatic cancer cell line",".","1"9921,9921,"MT-CO3","G-A","A-T","- / +","colonic crypts",".","1"9942,9942,"MT-CO3","G-A","D-N","+ / -","endometrial tumor",".","1"9948,9948,"MT-CO3","G-A","V-I","+ / -","papillary thyroid carcinoma, colorectal tumor",".","2"9985,9985,"MT-CO3","G-A","G-E","- / +","colonic crypts",".","1"10020,10020,"MT-TG","T-C","tRNA","- / +","colonic crypts",".","1"10071,10071,"MT-ND3","T-C","L-L","+ / -","bladder tumor",".","2"10158,10158,"MT-ND3","T-C","S-P","- / +","MNGIE tissues",".","1"10160,10160,"MT-ND3","C-T","S-S","- / +","colon tumor",".","1"10176,10176,"MT-ND3","G-A","G-S","+ / -","pancreatic cancer cell line",".","1"10181,10181,"MT-ND3","C-T","F-F","+ / -","thyroid tumor",".","2"10197,10197,"MT-ND3","G-C","A-P","+ / -","thyroid tumor",".","2"10221,10221,"MT-ND3","T-C","F-L","- / +","MNGIE tissues",".","1"10269,10269,"MT-ND3","C-T","L-F","+ / -","thyroid tumor",".","2"10272,10272,"MT-ND3","C-T","L-F","+ / -","thyroid tumor",".","2"10290,10290,"MT-ND3","G-A","A-T","+ / -","endometrial tumor",".","1"10320,10320,"MT-ND3","G-A","V-I","+ / -","thyroid tumor",".","2"10321,10321,"MT-ND3","T-C","V-A","+ / -","bladder tumor",".","2"10363,10363,"MT-ND3","T-C","L-P","+ / +","adenocarcinoma, lung cancer","","1"10386,10386,"MT-ND3","G-A","G-Ter","- / +","pituitary oncocytoma",".","1"10398,10398,"MT-ND3","A-G","T-A","+ / -","various tumors",".","4"10407,10407,"MT-TR","G-A","tRNA","- / +","breast tumor",".","1"10432,10432,"MT-TR","A-G","tRNA","- / -","MNGIE fibroblasts",".","1"10463,10463,"MT-TR","T-C","tRNA","+ / -","endometrium tumor",".","1"10495,10495,"MT-ND4L","T-C","M-T","- / +","normal tissues",".","1"10550,10550,"MT-ND4L","A-G","M-M","+ / -","endometrium control tissue","Normal in paired tumor tissue","1"10551,10551,"MT-ND4L","T-C","S-P","+ / -","endometrium tumor",".","1"10563,10563,"MT-ND4L","T-C","C-R","+ / -","colorectal tumor",".","3"10591,10591,"MT-ND4L","T-C","F-S","+ / -","colonic crypts",".","1"10608,10608,"MT-ND4L","A-G","M-V","+ / -","endometrial tumor",".","1"10639,10639,"MT-ND4L","A-G","N-S","+ / -","thyroid tumor",".","2"10640,10640,"MT-ND4L","T-C","N-N","+ / -","endometrium tumor",".","1"10646,10646,"MT-ND4L","G-C","V-V","- / -","pituitary oncocytoma",".","1"10657,10657,"MT-ND4L","T-C","M-T","- / +","breast tumor",".","1"10691,10691,"MT-ND4L","C-G","G-G","+ / -","thyroid tumor",".","2"10695,10695,"MT-ND4L","G-A","A-T","- / -","head/neck tumor",".","2"10715,10715,"MT-ND4L","C-T","S-S","+ / -","pancreatic cancer cell line",".","1"10792,10792,"MT-ND4","A-G","L-L","+ / -","bladder tumor",".","2"10793,10793,"MT-ND4","C-T","L-L","+ / -","thyroid tumor, bladder tumor",".","3"10806,10806,"MT-ND4","G-A","W-Ter","- / +","various tumors","","1"10822,10822,"MT-ND4","C-T","H-H","+ / -","bladder tumor, head/neck tumor",".","2"10844,10844,"MT-ND4","A-C","T-P","- / +","endometrial tumor",".","1"10914,10914,"MT-ND4","G-A","C-Y","- / +","colon tumor",".","1"10952,10952,"MT-ND4","C-CC","frameshift","+ / -","oncocytoma","insertion","3"10970,10970,"MT-ND4","T-C","W-R","+ / -","pancreatic cancer cell line",".","1"10978,10978,"MT-ND4","A-G","L-L","+ / -","bladder tumor",".","2"11009,11009,"MT-ND4","T-C","L-L","+ / -","pancreatic cancer cell line",".","2"11016,11016,"MT-ND4","G-A","S-N","+ / -","thyroid tumor",".","1"11038,11038,"MT-ND4","A-del","frameshift","- / -","thyroid, prostate tumors, oncocytoma","deletion","3"11040,11040,"MT-ND4","T-C","L-P","- / +","breast tumor",".","1"11065,11065,"MT-ND4","A-G","L-L","+ / -","bladder tumor",".","2"11090,11090,"MT-ND4","A-T","T-S","- / -","pituitary adenoma",".","1"11100,11100,"MT-ND4","A-G","E-G","- / +","colonic crypts",".","1"11126,11126,"MT-ND4","G-A","E-K","+ / -","papillary thyroid carcinoma",".","1"11150,11150,"MT-ND4","G-A","A-T","+ / -","head/neck tumor",".","2"11152,11152,"MT-ND4","T-C","A-A","+ / -","pancreatic cancer cell line",".","1"11237,11237,"MT-ND4","C-CC","frameshift","+ / -","pituitary oncocytoma","insertion","1"11315,11315,"MT-ND4","C-T","L-L","- / -","pituitary adenoma",".","1"11324,11324,"MT-ND4","T-C","S-P","- / -","MNGIE fibroblasts",".","1"11332,11332,"MT-ND4","C-T","A-A","+ / -","thyroid tumor",".","2"11390,11390,"MT-ND4","G-A","G-Ter","- / -","thyroid carcinoma (NI-EFVPTC)",".","1"11409,11409,"MT-ND4","C-T","P-L","+ / +","adenocarcinoma, lung cancer","","1"11475,11475,"MT-ND4","G-A","G-D","+ / -","oncocytomas",".","1"11518,11518,"MT-ND4","G-A","L-L","+ / -","bladder tumor",".","2"11534,11534,"MT-ND4","T-C","Y-H","+ / -","endometrial tumor",".","1"11621,11621,"MT-ND4","TA-del","frameshift-Ter","- / +","head/neck tumor","deletion","1"11674,11674,"MT-ND4","C-T","T-T","+ / -","pancreatic cancer cell line, prostate tumor",".","3"11703,11703,"MT-ND4","T-C","L-P","+ / -","pancreatic cancer cell line",".","1"11770,11770,"MT-ND4","T-C","T-T","- / +","colonic crypts",".","1"11781,11781,"MT-ND4","T-C","I-T","+ / -","pancreatic cancer cell line, MNGIE fibroblasts",".","2"11794,11794,"MT-ND4","T-C","S-S","- / +","oral cancer",".","1"11840,11840,"MT-ND4","C-T","L-L","+ / -","thyroid tumor",".","2"11872,11872,"MT-ND4","C-CC","frameshift","- / +","pituitary oncocytoma, various tumors","insertion","2"11874,11874,"MT-ND4","C-CC","frameshift","- / +","endometrial and ovarian tumors","insertion","1"11900,11900,"MT-ND4","G-A","V-M","- / -","breast tumor",".","2"11947,11947,"MT-ND4","A-G","T-T","+ / -","prostate tumor",".","2"11974,11974,"MT-ND4","A-G","L-L","+ / -","pancreatic cancer cell line",".","1"12049,12049,"MT-ND4","C-T","F-F","+ / -","bladder tumor",".","2"12196,12196,"MT-TH","C-T","tRNA","+ / +","acute leukemia platelets, leukocytes & bone marrow","Heteroplasmic in acute leukemia, homoplasmic or absent in earlier stage.","1"12220,12220,"MT-TS2","A-G","tRNA","- / +","aging liver & heart",".","1"12228,12228,"MT-TS2","T-C","tRNA","- / -","thyroid carcinoma (NI-EFVPTC)",".","1"12233,12233,"MT-TS2","C-del","tRNA","- / +","control colon tissue","deletion absent in paired tumor sample","1"12236,12236,"MT-TS2","G-A","tRNA","+ / -","thyroid tumor",".","2"12258,12258,"MT-TS2","C-G","tRNA","- / +","endometrium tumor","DMDF mutation","1"12278,12278,"MT-TL2","T-C","tRNA","+ / -","ovary tumor","absent in paired tumor sample","1"12300,12300,"MT-TL2","G-A","tRNA","- / +","lung-carcinoma cybrid","spontaneous leucine suppressor mutant","3"15622,15622,"MT-CYB","T-G","L-L","- / -","breast tumor",".","1"12301,12301,"MT-TL2","G-A","tRNA","- / +","bone marrow, whole blood, platelets, colonic mucosa, granulocytes","AISA patient","3"12308,12308,"MT-TL2","A-G","tRNA","+ / -","endometrium control tissue, lung tumor, prostate tumor","absent in paired end. tumor sample, haplogroup U marker","3"12310,12310,"MT-TL2","A-G","tRNA","- / -","MNGIE fibroblasts",".","1"12334,12334,"MT-TL2","G-A","tRNA","+ / +","skeletal muscle - myopathy, EXIT",".","2"12338,12338,"MT-ND5","T-C","M-T","+ / -","colon cancer","","1"12344,12344,"MT-ND5","T-A","M-K","- / -","breast tumor",".","2"12345,12345,"MT-ND5","G-A","M-M","+ / -","lung tumor",".","2"12372,12372,"MT-ND5","G-A","L-L","+ / -","prostate tumor",".","2"12384,12384,"MT-ND5","T-TT","frameshift","+ / -","oncocytoma","insertion","1"12390,12390,"MT-ND5","C-CC","frameshift","- / +","colonic crypts, omcocytoma","insertion","2"12390,12390,"MT-ND5","C-del","frameshift","- / +","various tumors","deletion","1"12414,12414,"MT-ND5","T-C","P-P","+ / -","pancreatic cancer cell line, prostate tumor",".","3"12425,12425,"MT-ND5","A-del","frameshift","- / +","pituitary oncocytoma, normal tissues","deletion","2"12425,12425,"MT-ND5","A-AA","frameshift = 12418insA","+ / +","colorectal tumor, normal tissues, endometrial and ovarian 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tumor",".","1"15731,15731,"MT-CYB","G-GT","frameshift","- / -","breast tumor","insertion","1"15732,15732,"MT-CYB","C-G","A-G","- / -","breast tumor",".","1"15732,15732,"MT-CYB","C-T","A-V","- / -","breast tumor",".","1"15732,15732,"MT-CYB","C-CA","frameshift","- / -","breast tumor","insertion","1"15734,15734,"MT-CYB","G-A","A-T","- / -","breast tumor",".","1"15734,15734,"MT-CYB","G-del","frameshift","- / -","breast tumor","deletion","1"15737,15737,"MT-CYB","G-del","frameshift","- / -","breast tumor","deletion","1"15738,15738,"MT-CYB","A-G","D-G","- / -","breast tumor",".","1"15740,15740,"MT-CYB","C-del","frameshift","- / -","breast tumor","deletion","1"15741,15741,"MT-CYB","T-G","L-R","- / -","breast tumor",".","1"15742,15742,"MT-CYB","C-A","L-L","- / -","breast tumor",".","1"15743,15743,"MT-CYB","C-T","L-F","- / -","breast tumor",".","1"15744,15744,"MT-CYB","T-TT","frameshift","- / -","breast tumor","insertion","1"15744,15744,"MT-CYB","T-A","L-H","- / -","breast tumor",".","1"15745,15745,"MT-CYB","C-A","L-L","- / -","breast tumor",".","1"15746,15746,"MT-CYB","A-C","I-L","- / -","breast tumor",".","1"15748,15748,"MT-CYB","T-C","I-I","- / -","breast tumor",".","1"15749,15749,"MT-CYB","C-T","L-L","- / -","breast tumor",".","1"15750,15750,"MT-CYB","T-A","L-Q","- / -","breast tumor",".","1"15751,15751,"MT-CYB","A-T","L-L","- / -","breast tumor",".","1"15752,15752,"MT-CYB","A-G","T-A","- / -","breast tumor",".","1"15754,15754,"MT-CYB","C-A","T-T","- / -","breast tumor",".","1"15754,15754,"MT-CYB","C-T","T-T","- / -","breast tumor",".","1"15755,15755,"MT-CYB","T-C","W-R","- / -","breast tumor",".","1"15756,15756,"MT-CYB","G-A","W-Ter","- / +","colonic crypts",".","1"15760,15760,"MT-CYB","C-G","I-M","- / -","breast tumor",".","1"15761,15761,"MT-CYB","G-A","G-Ter","- / +","ovarian carcinoma",".","1"15763,15763,"MT-CYB","A-G","G-G","- / -","breast tumor",".","1"15766,15766,"MT-CYB","A-G","G-G","- / -","breast tumor",".","1"15767,15767,"MT-CYB","C-A","Q-K","- / -","breast tumor",".","1"15767,15767,"MT-CYB","C-T","Q-Ter","- / +","head/neck tumor, breast tumor",".","2"15769,15769,"MT-CYB","A-G","Q-Q","- / -","breast tumor",".","1"15773,15773,"MT-CYB","G-del","frameshift","- / -","breast tumor","deletion","1"15774,15774,"MT-CYB","T-A","V-E","- / -","breast tumor",".","1"15777,15777,"MT-CYB","G-GG","frameshift","- / -","breast tumor","insertion","1"15778,15778,"MT-CYB","C-del","frameshift","- / -","breast tumor","deletion","1"15778,15778,"MT-CYB","C-A","S-Ter","- / -","breast tumor",".","1"15779,15779,"MT-CYB","T-G","Y-D","- / -","breast tumor",".","1"15779,15779,"MT-CYB","T-C","Y-H","- / -","breast tumor",".","1"15781,15781,"MT-CYB","C-CT","frameshift","- / -","breast tumor","insertion","1"15781,15781,"MT-CYB","C-G","Y-Ter","- / -","breast tumor",".","1"15782,15782,"MT-CYB","C-T","P-S","- / -","breast tumor",".","1"15784,15784,"MT-CYB","T-TG","frameshift","- / -","breast tumor","insertion","1"15784,15784,"MT-CYB","T-C","P-P","+ / -","pancreatic cancer cell line, breast tumor",".","2"15784,15784,"MT-CYB","T-G","P-P","- / -","breast tumor",".","1"15785,15785,"MT-CYB","T-G","F-V","- / -","breast tumor",".","1"15786,15786,"MT-CYB","T-G","F-C","- / -","breast tumor",".","1"15787,15787,"MT-CYB","T-del","frameshift","- / -","breast tumor","deletion","1"15787,15787,"MT-CYB","T-G","F-L","- / -","breast tumor",".","1"15789,15789,"MT-CYB","C-T","T-I","- / -","breast tumor",".","1"15789,15789,"MT-CYB","C-A","T-N","- / -","breast tumor",".","1"15790,15790,"MT-CYB","C-T","T-T","- / -","breast tumor",".","1"15792,15792,"MT-CYB","T-C","I-T","- / -","breast tumor",".","1"15796,15796,"MT-CYB","T-A","I-M","- / -","breast tumor",".","1"15797,15797,"MT-CYB","G-A","G-Ter","- / -","breast tumor",".","1"15804,15804,"MT-CYB","T-A","V-E","- / -","breast tumor",".","1"15807,15807,"MT-CYB","C-T","A-V","- / -","breast tumor",".","1"15808,15808,"MT-CYB","A-G","A-A","- / -","breast tumor",".","1"15808,15808,"MT-CYB","A-T","A-A","- / -","breast tumor",".","1"15811,15811,"MT-CYB","C-G","S-S","- / -","breast tumor",".","1"15811,15811,"MT-CYB","C-T","S-S","- / -","breast tumor",".","1"15812,15812,"MT-CYB","G-del","frameshift","- / -","breast tumor","deletion","1"15814,15814,"MT-CYB","A-AA","frameshift","- / -","breast tumor","insertion","1"15814,15814,"MT-CYB","A-del","frameshift","- / -","breast tumor","deletion","1"15814,15814,"MT-CYB","A-T","V-V","- / -","breast tumor",".","1"15815,15815,"MT-CYB","C-A","L-M","- / -","breast tumor",".","1"15815,15815,"MT-CYB","C-G","L-V","- / -","breast tumor",".","1"15816,15816,"MT-CYB","T-TT","frameshift","- / -","breast tumor","insertion","1"15820,15820,"MT-CYB","C-A","Y-Ter","- / -","breast tumor",".","1"15824,15824,"MT-CYB","A-G","T-A","- / -","breast tumor",".","1"15826,15826,"MT-CYB","A-T","T-T","- / -","breast tumor",".","1"15828,15828,"MT-CYB","C-T","T-M","- / -","breast tumor",".","1"15829,15829,"MT-CYB","A-G","T-T","- / -","breast tumor",".","1"15830,15830,"MT-CYB","A-G","I-V","- / -","breast tumor",".","1"15831,15831,"MT-CYB","T-C","I-T","- / -","MNGIE fibroblasts / endometrial tumor",".","3"15832,15832,"MT-CYB","C-T","I-I","- / -","breast tumor",".","1"15834,15834,"MT-CYB","T-G","L-R","- / -","breast tumor",".","1"15835,15835,"MT-CYB","A-T","L-L","- / -","breast tumor",".","1"15836,15836,"MT-CYB","A-T","I-F","- / -","breast tumor",".","1"15836,15836,"MT-CYB","A-C","I-L","- / -","breast tumor",".","1"15838,15838,"MT-CYB","C-T","I-I","- / -","breast tumor",".","1"15839,15839,"MT-CYB","C-CC","frameshift","- / -","breast tumor","insertion","1"15839,15839,"MT-CYB","C-T","L-L","- / -","breast tumor",".","1"15839,15839,"MT-CYB","C-G","L-V","- / -","breast tumor",".","1"15841,15841,"MT-CYB","A-T","L-L","- / -","breast tumor",".","1"15842,15842,"MT-CYB","A-del","frameshift","- / -","breast tumor","deletion","1"15842,15842,"MT-CYB","A-T","M-L","- / -","breast tumor",".","1"15844,15844,"MT-CYB","A-C","M-I","- / -","breast tumor",".","1"15849,15849,"MT-CYB","C-T","T-I","- / -","breast tumor",".","1"15849,15849,"MT-CYB","C-A","T-N","- / -","breast tumor",".","1"15884,15884,"MT-CYB","G-C","A-P","+ / -","pancreatic cancer cell line",".","1"15956,15956,"MT-TP,MT-ATT","T-C","tRNA","- / +","MNGIE tissues",".","2"15983,15983,"MT-TP,MT-ATT","T-C","tRNA","+ / -","pancreatic cancer cell line xenograft",".","1"15984,15984,"MT-TP,MT-ATT","T-C","tRNA","- / +","colonic mucosa","","1"15995,15995,"MT-TP,MT-ATT","G-A","tRNA","+ / -","endometrial tumor",".","1"16028,16028,"MT-HV1,MT-ATT,MT-CR","T-C","Control Region","- / +","myocyte",".","1"16029,16029,"MT-HV1,MT-ATT,MT-CR","T-C","Control Region","- / +","myocyte",".","1"16033,16033,"MT-HV1,MT-ATT,MT-CR","G-A","Control Region","- / +","myocyte",".","1"16034,16034,"MT-HV1,MT-ATT,MT-CR","G-A","Control Region","- / +","ovarian tumor, myocyte, normal tissues",".","3"16035,16035,"MT-HV1,MT-ATT,MT-CR","G-A","Control Region","- / +","myocyte, normal tissues",".","2"16036,16036,"MT-HV1,MT-ATT,MT-CR","G-A","Control Region","- / +","myocyte, normal tissues",".","2"16043,16043,"MT-HV1,MT-ATT,MT-CR","A-G","Control Region","- / +","MNGIE tissues",".","1"16049,16049,"MT-HV1,MT-ATT,MT-CR","G-A","Control Region","- / +","myocyte, normal tissues",".","2"16053,16053,"MT-HV1,MT-ATT,MT-CR","C-del","Control Region","- / +","myocyte","deletion","1"16054,16054,"MT-HV1,MT-ATT,MT-CR","A-G","Control Region","- / +","myocyte",".","1"16059,16059,"MT-HV1,MT-ATT,MT-CR","A-T","Control Region","- / +","colonic mucosa","","1"16069,16069,"MT-HV1,MT-ATT,MT-CR","C-T","Control Region","- / +","colonic mucosa","","1"16070,16070,"MT-HV1,MT-ATT,MT-CR","A-G","Control Region","- / +","colonic mucosa","","1"16071,16071,"MT-HV1,MT-ATT,MT-CR","C-T","Control Region","- / +","colonic mucosa","","1"16093,16093,"MT-HV1,MT-TAS2,MT-ATT,MT-CR","T-C","Control Region","+ / -","breast & prostate tumors, normal tissues",".","4"16104,16104,"MT-HV1,MT-TAS2,MT-ATT,MT-CR","C-T","Control Region","- / +","colonic mucosa","","1"16111,16111,"MT-HV1,MT-TAS2,MT-ATT,MT-CR,MT-7SDNA","C-T","Control Region","+ / -","colonic crypts, colonic mucosa, prostate tumor",".","3"16114,16114,"MT-HV1,MT-TAS2,MT-ATT,MT-CR,MT-7SDNA","C-T","Control Region","- / +","colonic mucosa","","1"16125,16125,"MT-HV1,MT-TAS2,MT-ATT,MT-CR,MT-7SDNA","G-T","Control Region","- / +","colonic mucosa","","1"16126,16126,"MT-HV1,MT-TAS2,MT-ATT,MT-CR,MT-7SDNA","T-C","Control Region","+ / -","glioblastoma, colonic mucosa, normal tissues",".","3"16134,16134,"MT-HV1,MT-TAS2,MT-ATT,MT-CR,MT-7SDNA","C-T","Control Region","+ / -","glioblastoma",".","2"16141,16141,"MT-HV1,MT-ATT,MT-CR,MT-7SDNA","A-G","Control Region","- / +","breast tumor",".","1"16148,16148,"MT-HV1,MT-ATT,MT-CR,MT-7SDNA","C-T","Control Region","nr / nr","aging brains",".","1"16156,16156,"MT-HV1,MT-ATT,MT-CR,MT-7SDNA","G-A","Control Region","- / +","various tumors","","1"16172,16172,"MT-HV1,MT-TAS,MT-ATT,MT-CR,MT-7SDNA","T-C","Control Region","- / +","MNGIE tissues, colonic mucosa, head/neck tumor back-mutation",".","3"16182,16182,"MT-HV1,MT-ATT,MT-CR,MT-7SDNA","A-C","Control Region","+ / +","prostate tumor",".","2"16183,16183,"MT-HV1,MT-ATT,MT-CR,MT-7SDNA","A-C","Control Region","+ / -","lung tumor back-mutation, prostate tumor, colon tumor",".","4"16183,16183,"MT-HV1,MT-ATT,MT-CR,MT-7SDNA","A-del","Control Region","+ / -","colonic crypts","deletion","1"16183,16183,"MT-HV1,MT-ATT,MT-CR,MT-7SDNA","A-G","Control Region","+ / -","prostate tumor",".","2"16184,16184,"MT-HV1,MT-ATT,MT-CR,MT-7SDNA","C-T","Control Region","- / +","colonic mucosa","","1"16187,16187,"MT-HV1,MT-ATT,MT-CR,MT-7SDNA","C-T","Control Region","+ / -","lung tumor",".","2"16188,16188,"MT-HV1,MT-ATT,MT-CR,MT-7SDNA","C-CC","Control Region","+ / -","hair","insertion","1"16189,16189,"MT-HV1,MT-ATT,MT-CR,MT-7SDNA","T-C","Control Region","+ / +","prostate tumor,normal buccal swab",".","5"16189,16189,"MT-HV1,MT-ATT,MT-CR,MT-7SDNA","T-TT","Control Region","+ / -","bladder tumor","insertion","1"16192,16192,"MT-HV1,MT-ATT,MT-CR,MT-7SDNA","C-A","Control Region","- / +","colonic mucosa","","1"16192,16192,"MT-HV1,MT-ATT,MT-CR,MT-7SDNA","C-T","Control Region","- / +","colonic mucosa","","1"16193,16193,"MT-HV1,MT-ATT,MT-CR,MT-7SDNA","C-CC(n)","Control Region","- / +","colonic mucosa, ovarian & prostate tumors, normal buccal swabs","insertion","4"16193,16193,"MT-HV1,MT-ATT,MT-CR,MT-7SDNA","C-T","Control Region","+ / -","ovarian tumor",".","1"16204,16204,"MT-HV1,MT-5,MT-ATT,MT-CR,MT-7SDNA","G-A","Control Region","- / +","colonic mucosa","","1"16205,16205,"MT-HV1,MT-5,MT-ATT,MT-CR,MT-7SDNA","C-T","Control Region","+ / +","normal buccal swab",".","2"16216,16216,"MT-HV1,MT-ATT,MT-CR,MT-7SDNA","A-C","Control Region","- / +","colonic mucosa","","1"16217,16217,"MT-HV1,MT-ATT,MT-CR,MT-7SDNA","T-C","Control Region","+ / -","prostate tumor, colonic mucosa",".","2"16218,16218,"MT-HV1,MT-ATT,MT-CR,MT-7SDNA","C-T","Control Region","+ / -","ovarian tumor",".","3"16223,16223,"MT-HV1,MT-ATT,MT-CR,MT-7SDNA","C-T","Control Region","- / -","colonic mucosa, tumors",".","1"16232,16232,"MT-HV1,MT-ATT,MT-CR,MT-7SDNA","C-A","Control Region","- / +","prostate tumor",".","2"16240,16240,"MT-HV1,MT-ATT,MT-CR,MT-7SDNA","A-G","Control Region","- / +","endometrial tumor",".","1"16244,16244,"MT-HV1,MT-ATT,MT-CR,MT-7SDNA","G-A","Control Region","- / +","colonic mucosa","","1"16247,16247,"MT-HV1,MT-ATT,MT-CR,MT-7SDNA","A-G","Control Region","- / -","MNGIE fibroblasts",".","1"16248,16248,"MT-HV1,MT-ATT,MT-CR,MT-7SDNA","C-T","Control Region","+ / -","ovarian tumor",".","1"16249,16249,"MT-HV1,MT-ATT,MT-CR,MT-7SDNA","T-C","Control Region","- / +","prostate tumor",".","2"16251,16251,"MT-HV1,MT-ATT,MT-CR,MT-7SDNA","C-T","Control Region","- / +","colonic mucosa","","1"16254,16254,"MT-HV1,MT-ATT,MT-CR,MT-7SDNA","A-T","Control Region","- / +","colonic mucosa","","1"16260,16260,"MT-HV1,MT-ATT,MT-CR,MT-7SDNA","C-T","Control Region","+ / -","gastric carcinoma",".","1"16265,16265,"MT-HV1,MT-ATT,MT-CR,MT-7SDNA","A-C","Control Region","+ / -","bladder tumor",".","2"16265,16265,"MT-HV1,MT-ATT,MT-CR,MT-7SDNA","A-G","Control Region","- / +","colonic mucosa","","1"16274,16274,"MT-HV1,MT-ATT,MT-CR,MT-7SDNA","G-A","Control Region","- / +","prostate tumor",".","2"16278,16278,"MT-HV1,MT-ATT,MT-CR,MT-7SDNA","C-T","Control Region","+ / -","ovarian control tissue, colon tumor",".","3"16290,16290,"MT-HV1,MT-ATT,MT-CR,MT-7SDNA","C-T","Control Region","- / +","breast tumor",".","1"16291,16291,"MT-HV1,MT-ATT,MT-CR,MT-7SDNA","C-T","Control Region","+ / +","normal tissues",".","1"16292,16292,"MT-HV1,MT-ATT,MT-CR,MT-7SDNA","C-T","Control Region","+ / -","breast, ovarian, head/neck tumor",".","4"16293,16293,"MT-HV1,MT-ATT,MT-CR,MT-7SDNA","A-G","Control Region","+ / -","glioblastoma",".","2"16298,16298,"MT-HV1,MT-ATT,MT-CR,MT-7SDNA","T-C","Control Region","+ / +","prostate tumor",".","2"16300,16300,"MT-HV1,MT-ATT,MT-CR,MT-7SDNA","A-G","Control Region","+ / -","head/neck tumor",".","2"16304,16304,"MT-HV1,MT-ATT,MT-CR,MT-7SDNA","T-C","Control Region","+ / +","esophageal, breast & prostate tumors",".","4"16309,16309,"MT-HV1,MT-ATT,MT-CR,MT-7SDNA","A-G","Control Region","+ / +","normal buccal swab",".","2"16311,16311,"MT-HV1,MT-ATT,MT-CR,MT-7SDNA","T-C","Control Region","- / +","colonic mucosa, prostate tumor",".","1"16318,16318,"MT-HV1,MT-ATT,MT-CR,MT-7SDNA","A-G","Control Region","- / +","colonic mucosa","","1"16324,16324,"MT-HV1,MT-ATT,MT-CR,MT-7SDNA","T-C","Control Region","+ / -","esophageal cancer",".","1"16327,16327,"MT-HV1,MT-ATT,MT-CR,MT-7SDNA","C-T","Control Region","- / +","colonic mucosa","","1"16352,16352,"MT-HV1,MT-ATT,MT-CR,MT-7SDNA","T-C","Control Region","- / +","MNGIE fibroblasts",".","1"16355,16355,"MT-HV1,MT-ATT,MT-CR,MT-7SDNA","C-T","Control Region","+ / +","normal tissues, various tumors",".","3"16356,16356,"MT-HV1,MT-ATT,MT-CR,MT-7SDNA","T-C","Control Region","+ / -","glioblastoma",".","2"16357,16357,"MT-HV1,MT-ATT,MT-CR,MT-7SDNA","T-C","Control Region","+ / -","hair",".","1"16365,16365,"MT-HV1,MT-ATT,MT-CR,MT-7SDNA","C-T","Control Region","+ / -","ovarian carcinoma",".","2"16389,16389,"MT-ATT,MT-CR,MT-7SDNA","G-T","Control Region","- / +","colonic mucosa","","1"16390,16390,"MT-ATT,MT-CR,MT-7SDNA","G-A","Control Region","+ / +","breast, ovarian tumor",".","2"16391,16391,"MT-ATT,MT-CR,MT-7SDNA","G-A","Control Region","+ / -","ovarian tumor",".","1"16394,16394,"MT-ATT,MT-CR,MT-7SDNA","C-A","Control Region","- / +","colonic mucosa","","1"16399,16399,"MT-ATT,MT-CR,MT-7SDNA","A-G","Control Region","- / +","various tumors",".","2"16403,16403,"MT-ATT,MT-CR,MT-7SDNA","C-T","Control Region","+ / -","prostate tumor",".","2"16426,16426,"MT-ATT,MT-CR,MT-7SDNA","C-A","Control Region","- / +","various tumors","","1"16438,16438,"MT-ATT,MT-CR,MT-7SDNA","G-A","Control Region","- / +","gastric carcinoma",".","1"16459,16459,"MT-ATT,MT-CR,MT-7SDNA","C-T","Control Region","+ / -","prostate tumor",".","2"16465,16465,"MT-ATT,MT-CR,MT-7SDNA","C-T","Control Region","+ / -","ovarian tumor",".","1"16474,16474,"MT-ATT,MT-CR,MT-7SDNA","G-C","Control Region","- / +","prostate tumor",".","2"16519,16519,"MT-ATT,MT-CR,MT-7SDNA","T-C","Control Region","+ / +","glioblastoma, gastric, lung, ovarian, prostate tumors",".","6"16527,16527,"MT-ATT,MT-CR,MT-7SDNA","C-T","Control Region","+ / -","pancreatic cancer cell line",".","1"16532,16532,"MT-ATT,MT-CR,MT-7SDNA","A-T","Control Region","- / +","bladder tumor",".","1"16537,16537,"MT-ATT,MT-CR,MT-7SDNA","C-T","Control Region","+ / -","pancreatic cancer cell line",".","1"

Notes:

For an extensive list of reported mtDNA deletions, click here.
Topic revision: r556 - 24 Jan 2023, ShipingZhang

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