MITOMAP: mtDNA Somatic Mutations

Last Edited: Dec 11, 2009

Locus	Nucleotide Position	Nucleotide Change	Amino Acid Change	Homo-plasmy	Hetero-Plasmy	Cell or Tissue type	Note	References
MT-DLOOP	1	G-C	noncod	+	-	prostate tumor	.	references
MT-DLOOP	32	A-G	noncod	-	+	POLG/PEO patient	.	references
MT-DLOOP	45	A-G	noncod	-	+	control skeletal muscle	.	references
MT-DLOOP	46	T-C	noncod	-	+	control skeletal muscle	.	references
MT-DLOOP	52	T-C	noncod	+	-	ovarian tumor	.	references
MT-DLOOP	55	T-C	noncod	-	+	control skeletal muscle	.	references
MT-DLOOP	59	T-C	noncod	-	+	control skeletal muscle	.	references
MT-DLOOP	62	G-C	noncod	-	+	aging brains	.	references
MT-DLOOP	64	C-A	noncod	-	+	POLG/PEO muscle	.	references
MT-DLOOP	64	C-T	noncod	-	+	aging brains	.	references
MT-DLOOP	66	G-A	noncod	-	+	POLG/PEO muscle	.	references
MT-DLOOP	67	G-A	noncod	-	+	POLG/PEO muscle	.	references
MT-DLOOP	72	T-C	noncod	-	+	aging brains, POLG/PEO & control muscle	.	references
MT-DLOOP	73	A-G	noncod	+	+	aging brains, POLG/PEO & control muscle, buccal cell, thyroid & prostate tumors	.	references
MT-DLOOP	74	G-A	noncod	+	-	head/neck tumor	.	references
MT-DLOOP	74	T-A	noncod	-	+	POLG/PEO muscle	.	references
MT-DLOOP	74	T-G	noncod	-	+	POLG/PEO muscle	.	references
MT-DLOOP	80	C-A	noncod	-	+	POLG/PEO muscle	.	references
MT-DLOOP	84	A-G	noncod	-	+	POLG/PEO muscle	.	references
MT-DLOOP	91	C-T	noncod	-	+	control skeletal muscle	.	references
MT-DLOOP	92	G-A	noncod	-	+	aging brains	.	references
MT-DLOOP	94	G-A	noncod	+	-	prostate tumor	.	references
MT-DLOOP	97	G-A	noncod	-	+	POLG/PEO muscle	.	references
MT-DLOOP	98	C-del	noncod	+	-	thyroid tumor	.	references
MT-DLOOP	100	G-A	noncod	-	+	POLG/PEO muscle	.	references
MT-DLOOP	106	G-A	noncod	+	-	prostate tumor	.	references
MT-DLOOP	107	G-del	noncod	+	-	thyroid tumor	.	references
MT-DLOOP	112	C-T	noncod	-	+	control skeletal muscle	.	references
MT-DLOOP	114	C-T	noncod	-	+	POLG/PEO muscle, bladder tumor back-mutation	.	references
MT-DLOOP	115	T-C	noncod	+	-	thyroid tumor	.	references
MT-DLOOP	117	T-C	noncod	-	+	control skeletal muscle	.	references
MT-DLOOP	121	G-A	noncod	-	+	POLG/PEO muscle	.	references
MT-DLOOP	122	C-T	noncod	-	+	POLG/PEO muscle	.	references
MT-DLOOP	124	G-A	noncod	-	+	POLG/PEO muscle	.	references
MT-DLOOP	125	T-C	noncod	-	+	POLG/PEO & control muscle	.	references
MT-DLOOP	137	A-G	noncod	-	+	POLG/PEO muscle	.	references
MT-DLOOP	146	T-C	noncod	-	+	elderly fibroblasts, aging/AD brains, POLG/PEO & control muscle, prostate tumor	.	references
MT-DLOOP	146	T-C	noncod	+	-	ovarian carcinoma	.	references
MT-DLOOP	148	A-G	noncod	-	+	control skeletal muscle	.	references
MT-DLOOP	150	C-T	noncod	+	+	elderly fibroblasts/leukocytes, lung, thyroid, prostate tumors	.	references
MT-DLOOP	152	T-C	noncod	+	+	aging brains, elderly fibroblasts, ovarian carcinoma, breast tumor	.	references
MT-DLOOP	159	T-A	noncod	-	+	POLG/PEO muscle	.	references
MT-DLOOP	162	C-G	noncod	-	+	POLG/PEO muscle	.	references
MT-DLOOP	168	T-C	noncod	-	+	control skeletal muscle	.	references
MT-DLOOP	174	C-T	noncod	-	+	POLG/PEO muscle	.	references
MT-DLOOP	178	A-G	noncod	-	+	POLG/PEO muscle	.	references
MT-DLOOP	180	T-C	noncod	-	+	POLG/PEO muscle	.	references
MT-DLOOP	182	C-T	noncod	-	+	POLG/PEO muscle	.	references
MT-DLOOP	183	A-G	noncod	-	+	POLG/PEO muscle	.	references
MT-DLOOP	185	G-A	noncod	+	+	POLG/PEO muscle, thyroid tumor, glioblastoma	.	references
MT-DLOOP	185	G-C	noncod	-	+	POLG/PEO muscle	.	references
MT-DLOOP	186	C-T	noncod	-	+	POLG/PEO & MNGIE muscle	.	references
MT-DLOOP	187	G-A	noncod	-	+	POLG/PEO muscle	.	references
MT-DLOOP	188	A-C	noncod	-	+	POLG/PEO muscle	.	references
MT-DLOOP	188	A-G	noncod	-	+	breast tumor	.	references
MT-DLOOP	189	A-G	noncod	-	+	elderly muscle & brains, myocyte, POLG/PEO muscle & fibroblasts, various tumors	.	references
MT-DLOOP	190	C-CA	noncod	-	+	POLG/PEO muscle	.	references
MT-DLOOP	190	C-T	noncod	-	+	POLG/PEO muscle	.	references
MT-DLOOP	191	A-G	noncod	-	+	POLG/PEO muscle	.	references
MT-DLOOP	192	T-del	noncod	-	+	POLG/PEO muscle	.	references
MT-DLOOP	192	T-A	noncod	-	+	POLG/PEO muscle	.	references
MT-DLOOP	194	C-T	noncod	-	+	POLG/PEO muscle	.	references
MT-DLOOP	195	T-C	noncod	+	+	elderly fibroblasts, aging/AD brains. Tumors: lung, thyroid, ovarian, prostate, glioblastoma	.	references
MT-DLOOP	199	T-C	noncod	+	-	ovarian carcinoma	.	references
MT-DLOOP	199	T-C	noncod	-	+	POLG/MNGIE muscle	.	references
MT-DLOOP	202	A-G	noncod	-	+	POLG/PEO muscle	.	references
MT-DLOOP	203	G-A	noncod	+	-	breast tumor	.	references
MT-DLOOP	203	G-GT	noncod	-	+	POLG/PEO muscle	.	references
MT-DLOOP	204	T-C	noncod	+	+	various tumors	.	references
MT-DLOOP	204	T-G	noncod	+	-	LHON fibroblasts	.	references
MT-DLOOP	205	G-A	noncod	+	-	gastric carcinoma	.	references
MT-DLOOP	206	T-C	noncod	-	+	POLG/PEO & POLG/MNGIE muscle, prostate tumor	.	references
MT-DLOOP	207	G-A	noncod	+	+	oral, prostate & thyroid tumors	.	references
MT-DLOOP	209	T-G	noncod	-	+	POLG/PEO muscle	.	references
MT-DLOOP	211	A-C	noncod	-	+	POLG/MNGIE muscle	.	references
MT-DLOOP	211	A-G	noncod	-	+	POLG/PEO muscle	.	references
MT-DLOOP	213	T-C	noncod	-	+	POLG/PEO muscle	.	references
MT-DLOOP	214	A-G	noncod	-	+	buccal cell	.	references
MT-DLOOP	214	A-T	noncod	-	+	POLG/PEO muscle	.	references
MT-DLOOP	215	A-C	noncod	-	+	control skeletal muscle	.	references
MT-DLOOP	215	A-G	noncod	+	-	esophageal cancer	.	references
MT-DLOOP	223	T-C	noncod	-	+	POLG/PEO muscle	.	references
MT-DLOOP	229	G-A	noncod	-	+	control skeletal muscle	.	references
MT-DLOOP	235	A-G	noncod	+	-	prostate tumor	.	references
MT-DLOOP	239	T-C	noncod	-	+	POLG/PEO muscle, ovarian tumor	.	references
MT-DLOOP	240	A-G	noncod	-	+	POLG/PEO muscle	.	references
MT-DLOOP	242	C-T	noncod	-	+	POLG/PEO muscle	.	references
MT-DLOOP	244	A-del	noncod	+	+	prostate tumor	.	references
MT-DLOOP	244	A-C	noncod	-	+	POLG/PEO muscle	.	references
MT-DLOOP	249	A-del	noncod	+	-	ovarian control tissue	.	references
MT-DLOOP	249	A-G	noncod	-	+	elderly fibroblasts, POLG/PEO muscle	.	references
MT-DLOOP	251	G-A	noncod	-	+	POLG/PEO muscle	.	references
MT-DLOOP	251	G-C	noncod	-	+	buccal cell	.	references
MT-DLOOP	252	T-C	noncod	-	+	buccal cell	.	references
MT-DLOOP	253	C-A	noncod	-	+	POLG/PEO muscle	.	references
MT-DLOOP	253	C-T	noncod	-	+	POLG/PEO & control muscle	.	references
MT-DLOOP	254	T-A	noncod	-	+	POLG/PEO muscle	.	references
MT-DLOOP	260	G-C	noncod	-	+	POLG/MNGIE muscle	.	references
MT-DLOOP	261	C-G	noncod	-	+	POLG/PEO muscle	.	references
MT-DLOOP	262	C-T	noncod	-	+	POLG/PEO muscle	.	references
MT-DLOOP	263	A-G	noncod	-	+	POLG/MNGIE muscle	.	references
MT-DLOOP	266	T-G	noncod	-	+	POLG/PEO muscle	.	references
MT-DLOOP	270	A-T	noncod	-	+	elderly Down's Syndrome fibroblasts	.	references
MT-DLOOP	273	C-T	noncod	-	+	POLG/PEO muscle	.	references
MT-DLOOP	277	C-T	noncod	-	+	control skeletal muscle	.	references
MT-DLOOP	285	C-T	noncod	-	+	elderly fibroblasts	.	references
MT-DLOOP	290	AA-TT	noncod	-	+	MNGIE fibroblasts	.	references
MT-DLOOP	291	A-del	noncod	-	+	MNGIE fibroblasts	.	references
MT-DLOOP	291	A-G	noncod	-	+	POLG/PEO & control muscle, MNGIE fibroblasts	.	references
MT-DLOOP	291	A-T	noncod	-	+	MNGIE fibroblasts	.	references
MT-DLOOP	292	T-C	noncod	-	+	POLG/PEO muscle, MNGIE fibroblasts	.	references
MT-DLOOP	295	C-T	noncod	-	+	POLG/MNGIE muscle, glioblastoma	.	references
MT-DLOOP	297	A-G	noncod	-	+	POLG/PEO muscle	.	references
MT-DLOOP	298	C-G	noncod	-	+	control skeletal muscle	.	references
MT-DLOOP	303:315	C(7-8)TC(5)	noncod	+	+	multiple tumor types	highly variable C tract "D310"	references
MT-DLOOP	303:493	~200 bp duplication	noncod	-	+	aging muscle	.	references
MT-DLOOP	303:568	~260 bp duplication & triplication	noncod	-	+	multiple tumor types, aging muscle, myopathic muscle	.	references
MT-DLOOP	309	C-C(0	noncod	-	+	buccal cell	.	references
MT-DLOOP	309	C-T	noncod	-	+	POLG/PEO muscle	.	references
MT-DLOOP	310	T-del	noncod	+	-	breast tumor	.	references
MT-DLOOP	310	T-C	noncod	+	+	normal buccal swab	.	references
MT-DLOOP	313	C-T	noncod	-	+	prostate tumor	.	references
MT-DLOOP	315	C-T	noncod	+	+	POLG/PEO muscle, prostate tumor	.	references
MT-DLOOP	317	C-T	noncod	+	-	ovarian tumor	.	references
MT-DLOOP	318	T-C	noncod	-	+	POLG/PEO muscle	.	references
MT-DLOOP	320	C-T	noncod	-	+	POLG/PEO muscle	.	references
MT-DLOOP	324	C-G	noncod	-	+	POLG/MNGIE muscle	.	references
MT-DLOOP	325	C-T	noncod	+	-	thyroid tumor	.	references
MT-DLOOP	333	T-C	noncod	-	+	control skeletal muscle	.	references
MT-DLOOP	334	T-C	noncod	-	+	POLG/PEO muscle	.	references
MT-DLOOP	335	A-G	noncod	-	+	elderly Down's Syndrome fibroblasts	.	references
MT-DLOOP	368	A-G	noncod	-	+	elderly fibroblasts	.	references
MT-DLOOP	375	C-CC	noncod	+	-	colonic crypts	.	references
MT-DLOOP	383	T-TT	noncod	-	+	elderly fibroblasts	.	references
MT-DLOOP	385	A-G	noncod	+	-	Twinkle/PEO frontal cortex	.	references
MT-DLOOP	386	C-A	noncod	-	+	bladder tumor	.	references
MT-DLOOP	405	T-del	noncod	-	+	Twinkle/PEO frontal cortex	.	references
MT-DLOOP	408	T-A	noncod	-	+	elderly muscle, POLG/PEO, Twinkle/PEO frontal cortex and muscle	.	references
MT-DLOOP	410	G-A	noncod	-	+	Twinkle/PEO eye muscle	.	references
MT-DLOOP	412	G-A	noncod	-	+	Twinkle/PEO eye muscle	.	references
MT-DLOOP	414	T-C	noncod	-	+	AD brains	.	references
MT-DLOOP	414	T-G	noncod	-	+	elderly fibroblasts, elderly muscle, POLG/PEO, Down's Syndrome, AD brains,oocytes	.	references
MT-DLOOP	415	A-G	noncod	-	+	Twinkle/PEO eye muscle	.	references
MT-DLOOP	426	A-G	noncod	-	+	elderly Down's Syndrome fibroblasts	.	references
MT-DLOOP	429	G-A	noncod	-	+	Twinkle/PEO eye muscle	.	references
MT-DLOOP	437	C-T	noncod	.	.	prostate tumor	.	references
MT-DLOOP	456	C-T	noncod	+	-	thyroid tumor	.	references
MT-DLOOP	460	T-A	noncod	-	+	elderly Down's Syndrome fibroblasts	.	references
MT-DLOOP	460	T-C	noncod	+	+	elderly Down's Syndrome fibroblasts, thyroid tumor	.	references
MT-DLOOP	462	C-T	noncod	+	-	thyroid tumor	.	references
MT-DLOOP	466	T-C	noncod	-	+	alcoholic fatty liver	.	references
MT-DLOOP	477	T-C	noncod	-	+	AD brains, ovarian tumor	.	references
MT-DLOOP	481	C-T	noncod	+	-	thyroid tumor	.	references
MT-DLOOP	486	C-T	noncod	-	+	elderly Down's Syndrome fibroblasts	.	references
MT-DLOOP	487	A-G	noncod	.	.	prostate tumor	.	references
MT-DLOOP	489	T-C	noncod	+	+	ovarian carcinoma, prostate tumor	.	references
MT-DLOOP	497	C-T	noncod	+	-	thyroid tumor	.	references
MT-DLOOP	499	G-A	noncod	+	-	thyroid & prostate tumors	.	references
MT-DLOOP	507	T-A	noncod	-	+	Twinkle/PEO skeletal muscle	.	references
MT-DLOOP	514	C-CCG	noncod	+	-	head/neck tumor	.	references
MT-DLOOP	514:523	(CA)(5-7)	noncod	+	+	ovarian carcinoma & control tissue, thyroid, prostate & breast tumors	variable CA repeat region	references
MT-DLOOP	516	C-T	noncod	-	+	normal breast	.	references
MT-DLOOP	523:524	AC-del	noncod	-	+	Twinkle/PEO eye muscle	.	references
MT-DLOOP	538	A-G	noncod	-	+	Twinkle/PEO skeletal muscle	.	references
MT-DLOOP	540	A-G	noncod	-	+	Twinkle/PEO skeletal & eye muscle	.	references
MT-DLOOP	549	C-T	noncod	+	-	thyroid tumor	.	references
MT-DLOOP	556	A-G	noncod	-	+	Twinkle/PEO eye muscle	.	references
MT-DLOOP	559	C-T	noncod	-	+	Twinkle/PEO skeletal muscle	.	references
MT-DLOOP	564	G-A	noncod	-	+	colonic crypts	.	references
MT-DLOOP	564	G-A	noncod	-	+	Twinkle/PEO skeletal & eye muscle	.	references
MT-DLOOP	565	A-G	noncod	+	-	ovarian tumor	.	references
MT-DLOOP	567	A-AC	noncod	-	+	Twinkle/PEO frontal cortex	.	references
MT-DLOOP	567	A-C	noncod	-	+	ovarian tumor	.	references
MT-DLOOP	568	C(6)-C(8)	noncod	+	-	multiple tumor types	.	references
MT-TF,MT-RNR1,MT-TV,MT-RNR2,MT-TL1,MT-ND1,MT-TI,MT-TQ,MT-TM	584:4442	3857 bp del	multiple	-	+	elderly muscle	3857-bp 'HSP' deletion	references
MT-TF	586	G-A	noncod	+	+	colonic crypts, ovarian tumor	.	references
MT-TF	616	T-C	noncod	-	+	MNGIE fibroblasts	.	references
MT-RNR1	664	G-A	noncod	+	-	ovarian carcinoma	.	references
MT-RNR1	687	G-A	noncod	+	-	pancreatic cancer cell line	.	references
MT-RNR1	710	T-C	noncod	+	-	colorectal tumor	.	references
MT-RNR1	879	T-C	noncod	-	+	colonic crypts	.	references
MT-RNR1	943	G-A	noncod	+	-	colonic crypts	.	references
MT-RNR1	1040	C-T	noncod	.	.	MNGIE fibroblasts	.	references
MT-RNR1	1097	G-A	noncod	+	-	colonic crypts	.	references
MT-RNR1	1243	T-C	noncod	+	-	pancreatic cancer cell line	.	references
MT-RNR1	1289	G-C	noncod	+	-	colonic crypts	.	references
MT-RNR1	1320	G-A	noncod	-	+	normal breast	.	references
MT-RNR1	1401	G-A	noncod	+	-	ovarian carcinoma	.	references
MT-RNR1	1406	T-C	noncod	+	-	pancreatic cancer cell line	.	references
MT-RNR1	1586	G-A	noncod	-	+	colonic crypts	.	references
MT-RNR2	1676	A-G	noncod	+	-	pancreatic cancer cell line	.	references
MT-RNR2	1721	C-T	noncod	+	+	acute leukemia platelets, leukocytes & bone marrow	Heteroplasmic in acute leukemia, homoplasmic or absent in earlier stage.	references
MT-RNR2	1738	T-C	noncod	+	-	colorectal tumor	.	references
MT-RNR2	1811	A-G	noncod	+	-	head/neck tumor	.	references
MT-RNR2	1831	G-A	noncod	-	+	colonic crypts	.	references
MT-RNR2	1952	T-C	noncod	+	-	ovarian carcinoma	.	references
MT-RNR2	1967	T-C	noncod	-	+	colorectal tumor	.	references
MT-RNR2	2015	G-A	noncod	+	-	pancreatic cancer cell line	.	references
MT-RNR2	2056	G-A	noncod	+	+	bladder tumor, acute leukemia platelets/leukocytes/bone marrow	Heteroplasmic in acute leukemia, homoplasmic or absent in earlier stage.	references
MT-RNR2	2222	T-C	noncod	+	-	pancreatic cancer cell line	.	references
MT-RNR2	2233	T-A	noncod	.	.	MNGIE fibroblasts		references
MT-RNR2	2275	T-C	noncod	-	+	colonic crypts	.	references
MT-RNR2	2299	T-A	noncod	-	+	colorectal tumor	.	references
MT-RNR2	2445	T-C	noncod	+	-	bladder tumor	.	references
MT-RNR2	2643	G-C	noncod	-	+	colonic crypts	.	references
MT-RNR2	2664	T-C	noncod	+	-	lung tumor	.	references
MT-RNR2	2805	A-T	noncod	+	-	pancreatic cancer cell line xenograf, MNGIE fibroblasts	.	references
MT-RNR2	2815	G-A	noncod	-	+	colonic crypts	.	references
MT-RNR2	2905	A-G	noncod	+	-	pancreatic cancer cell line	.	references
MT-RNR2	2916	G-A	noncod	-	+	colonic crypts	.	references
MT-RNR2	2923	G-A	noncod	+	-	prostate tumor	.	references
MT-RNR2	2998	C-CT	noncod	+	-	lung tumor	.	references
MT-RNR2	3014	G-A	noncod	+	-	colonic crypts	.	references
MT-RNR2	3054	G-A	noncod	+	-	bladder tumor	.	references
MT-RNR2	3094	G-A	noncod	-	+	colonic crypts	.	references
MT-TL1	3232:3236	TAAG-T	noncod	-	+	elderly muscle	3-bp deletion	references
MT-TL1	3243	A-G	noncod	+	+	elderly brain, elderly muscle, colon tumor, oncocytoma	.	references
MT-TL1	3244	G-A	noncod	+	+	gastric carcinoma, lung tumor	.	references
MT-ND1	3308	T-C	M-T	+	-	colorectal tumor	.	references
MT-ND1	3323:3588	264 bp del	multiple	-	+	renal cell carcinoma	264-bp deletion, alternate position 3326:3591	references
MT-ND1	3357	G-A	syn	+	-	prostate tumor	.	references
MT-ND1	3386	T-C	I-T	-	+	MNGIE tissues		references
MT-ND1	3394	T-C	Y-H	+	+	acute leukemia platelets, leukocytes & bone marrow	Heteroplasmic in acute leukemia, homoplasmic or absent in earlier stage.	references
MT-ND1	3421	G-A	V-M	+	-	pancreatic cancer cell line	.	references
MT-ND1	3434	A-G	Y-C	+	-	prostate tumor	.	references
MT-ND1	3480	A-G	syn	+	-	prostate tumor	.	references
MT-ND1	3505	A-G	T-A	+	-	pancreatic cancer cell line, prostate tumor	.	references
MT-ND1	3526	G-A	A-T	+	-	thyroid tumor	.	references
MT-ND1	3566:3571	C(6)-C(7)	frameshift	+	-	colorectal tumor, oncocytoma	.	references
MT-ND1	3571	C-del	frameshift	+	-	oncocytoma	.	references
MT-ND1	3594	C-T	syn	+	-	thyroid tumor	.	references
MT-ND1	3653	T-C	I-T	.	.	MNGIE fibroblasts	.	references
MT-ND1	3654	C-T	syn	+	-	pancreatic cancer cell line	.	references
MT-ND1	3670	G-A	A-T	+	-	pancreatic cancer cell line xenograft	.	references
MT-ND1	3910	G-A	E-K	+	-	thyroid tumor	.	references
MT-ND1	3918	G-A	syn	.	.	breast tumor	.	references
MT-ND1	3992	C-T	T-M	+	-	thyroid tumor	.	references
MT-ND1	4028	T-C	I-T	.	.	MNGIE fibroblasts	.	references
MT-ND1	4160	T-A	L-H	.	.	MNGIE fibroblasts	.	references
MT-ND1	4188	A-G	syn	+	-	breast cyst	.	references
MT-ND1	4216	T-C	Y-H	+	+	acute leukemia platelets, leukocytes & bone marrow	Heteroplasmic in acute leukemia, homoplasmic or absent in earlier stage.	references
MT-TI	4312	C-T	noncod	+	-	thyroid tumor	.	references
MT-TQ	4370	C-T	noncod	-	+	MNGIE fibroblasts	.	references
MT-ND4,MT-TH,MT-TS2,MT-TL2,MT-ND5,MT-ND6,MT-TE,MT-CYB,MT-TQ,MT-TM,MT-ND2,MT-TW,MT-TA,MT-TN,MT-TC,MT-TY,MT-CO1,MT-TS1,MT-TD,MT-CO2,MT-TK,MT-ATP8,MT-ATP6,MT-CO3,MT-TG,MT-ND3,MT-TR,MT-ND4L	4398:14822	10422 bp del	multiple	-	+	elderly muscle	10422-bp deletion	references
MT-TQ	4399	T-C	noncod	+	-	colonic crypts	.	references
MT-TM	4421	G-A	noncod	-	+	elderly muscle	.	references
MT-TM	4446	G-A	noncod	-	+	colonic crypts	.	references
MT-TM	4460	T-C	noncod	-	+	elderly muscle	.	references
MT-ND2	4550	T-C	syn	+	-	colonic crypts	.	references
MT-ND2	4580	G-A	syn	+	-	pancreatic cancer cell line	.	references
MT-ND2	4613	A-G	syn	+	-	thyroid tumor	.	references
MT-ND2	4646	T-C	syn	+	-	glioblastoma	.	references
MT-ND2	4788	G-A	G-Ter	-	+	colonic crypts	.	references
MT-ND2	4811	A-G	syn	+	-	pancreatic cancer cell line	.	references
MT-ND2	4940	C-T	syn	+	-	thyroid tumor	.	references
MT-ND2	4985	A-G	syn	+	-	thyroid tumor	.	references
MT-ND2	4986	A-C	T-P	-	+	oral cancer	.	references
MT-ND2	4986	A-G	T-A	-	+	colonic crypts	.	references
MT-ND2	5026	A-G	H-R	-	+	oral cancer	.	references
MT-ND2	5132:5134	AAA-A	frameshift	+	-	skeletal muscle - myopathy	.	references
MT-ND2	5140	G-A	S-N	+	-	colonic crypts	.	references
MT-ND2	5164	G-A	R-H	-	+	colonic crypts	.	references
MT-ND2	5198	A-G	syn	+	-	glioblastoma	.	references
MT-ND2	5231	G-A	syn	+	-	endometrium control tissue	Normal in paired tumor tissue	references
MT-ND2	5298	A-G	I-V	+	-	papillary thyroid carcinoma	.	references
MT-ND2	5408	A-del	frameshift	+	-	papillary thyroid carcinoma	.	references
MT-ND2	5480	A-C	syn	-	+	aged substantia nigra neurons	.	references
MT-TW	5517	T-C	noncod	.	.	MNGIE fibroblasts	.	references
MT-TW	5521	G-A	noncod	+	-	lung tumor	.	references
MT-TA	5628	T-A	noncod	.	.	MNGIE tissues	.	references
MT-TA	5628	T-C	noncod	.	.	MNGIE fibroblasts	.	references
MT-TA	5633	C-T	noncod	+	-	thyroid tumor	.	references
MT-ND4,MT-TH,MT-TS2,MT-TL2,MT-ND5,MT-ND6,MT-TE,MT-CYB,MT-TT,MT-TP,MT-TC,MT-TY,MT-CO1,MT-TS1,MT-TD,MT-CO2,MT-TK,MT-ATP8,MT-ATP6,MT-CO3,MT-TG,MT-ND3,MT-TR,MT-ND4L,MT-DLOOP	5788:16071	10282 bp del	multiple	-	+	elderly muscle	10282-bp deletion	references
MT-TC	5814	T-C	noncod	-	+	MNGIE tissues	.	references
MT-TY	5843	A-G	noncod	+	+	acute leukemia platelets, leukocytes & bone marrow	Heteroplasmic in acute leukemia, homoplasmic or absent in earlier stage.	references
MT-TY	5885	T-del	noncod	-	+	CPEO muscle	single nucleotide deletion	references
	5892	T-C	noncod	+	-	colonic crypts	.	references
MT-CO1	5918	T-C	syn	+	-	pancreatic cancer cell line	.	references
MT-CO1	5920	G-A	W-Ter	+	-	skeletal muscle - myopathy	.	references
MT-CO1	5949	G-A	G-Ter	-	+	prostate tumor	.	references
MT-CO1	5973	G-A	A-T	+	-	pancreatic cancer cell line	.	references
MT-CO1	5999	T-C	syn	+	-	pancreatic cancer cell line, glioblastoma	.	references
MT-CO1	6047	A-G	syn	+	-	pancreatic cancer cell line, glioblastoma	.	references
MT-CO1	6124	T-C	M-T	-	+	prostate tumor	.	references
MT-CO1	6146	A-G	syn	+	-	pancreatic cancer cell line	.	references
MT-ND4,MT-TH,MT-TS2,MT-TL2,MT-ND5,MT-ND6,MT-TE,MT-CYB,MT-TT,MT-TP,MT-CO1,MT-TS1,MT-TD,MT-CO2,MT-TK,MT-ATP8,MT-ATP6,MT-CO3,MT-TG,MT-ND3,MT-TR,MT-ND4L,MT-DLOOP	6173:16078	9904 bp del	multiple	-	+	elderly muscle	9904-bp deletion	references
MT-CO1	6264	G-A	G-Ter	+	-	colorectal tumor	.	references
MT-CO1	6267	G-A	A-T	+	-	pancreatic cancer cell line	.	references
MT-CO1	6473	C-T	syn	+	-	thyroid tumor	.	references
MT-CO1	6650	A-C	syn	+	-	thyroid tumor	.	references
MT-CO1	6698	A-del	frameshift	+	-	colonic crypts	.	references
MT-CO1	6721	T-C	M-T	-	+	bone marrow, whole blood, platelets, granulocytes	AISA (acquired idiopathic sideroblastic anemia) patient	references
MT-CO1	6742	T-C	I-T	-	+	bone marrow, whole blood, platelets, granulocytes	AISA patient	references
MT-CO1	6776	T-C	syn	+	-	breast cystic masses	.	references
MT-CO1	6849	A-G	T-A	+	+	lymphoblast cell line		references
MT-CO1	6852	G-A	G-S	-	-	colonic crypts	.	references
MT-CO1	6869	C-T	syn	+	-	pancreatic cancer cell line	.	references
MT-CO1	6924	C-T	A-S	-	+	prostate tumor	.	references
MT-CO1	6937	T-C	I-T	+	-	colonic crypts	.	references
MT-CO1	7013	G-A	syn	-	+	colonic crypts	.	references
MT-CO1	7053	G-A	G-Ter	+	-	colonic crypts	.	references
MT-CO1	7055	A-G	syn	.	.	MNGIE fibroblasts	.	references
MT-CO1	7065	G-A	A-T	+	-	colonic crypts	.	references
MT-CO1	7090	G-A	W-Ter	+	-	colonic crypts	.	references
MT-CO1	7103	C-T	syn	+	-	thyroid tumor	.	references
MT-CO1	7151	C-T	syn	+	-	pancreatic cancer cell line	.	references
MT-CO1	7440	T-C	S-P	.	.	MNGIE fibroblasts	.	references
MT-TS1	7476	C-T	noncod	+	-	thyroid hyperplasia	.	references
MT-TD	7521	G-A	noncod	+	-	thyroid tumor	.	references
MT-CO2	7627:8195	[AGCT](569)	stop codon	+	-	thyroid tumor	.	references
MT-CO2	7631:8203	[AGCT](569)	del 191 aa	+	-	thyroid tumor	.	references
MT-CO2	7775	G-A	V-I	+	+	colonic crypts, thyroid tumor	.	references
MT-CO2	7785	T-C	I-T	+	-	thyroid tumor	.	references
MT-CO2	7819	C-A	syn	+	-	thyroid tumor	.	references
MT-ND4,MT-TH,MT-TS2,MT-TL2,MT-ND5,MT-CO2,MT-TK,MT-ATP8,MT-ATP6,MT-CO3,MT-TG,MT-ND3,MT-TR,MT-ND4L	7842:13904	6063 bp del	multiple	-	+	aging liver	6063-bp deletion	references
MT-CO2	7873	C-T	syn	+	-	thyroid tumor	.	references
MT-CO2	7901	T-C	T-R	+	-	colonic crypts	.	references
MT-CO2	7986	G-T	R-Q	+	-	pancreatic cancer cell line	.	references
MT-CO2	8009	G-A	V-M	+	-	colorectal tumor	.	references
MT-CO2	8108	A-G	I-V	.	.	MNGIE fibroblasts	.	references
MT-CO2	8154	G-A	G-E	+	-	colonic crypts	.	references
MT-TK	8344	A-G	noncod	-	+	bone marrow, elderly muscle	AISA patient	references
MT-ATP8	8367	T-C	M-T	.	.	MNGIE fibroblasts	.	references
MT-ND4,MT-TH,MT-TS2,MT-TL2,MT-ND5,MT-ATP8,MT-ATP6,MT-CO3,MT-TG,MT-ND3,MT-TR,MT-ND4L	8469:13447	4977 bp del	multiple	-	+	CPEO, elderly brain, elderly muscle, elderly temporal bone, deafness, myopathic muscle, kidney disease, sunbed exposure, photoaged skin; breast cancer	the 'common' deletion	references
MT-ND4,MT-TH,MT-TS2,MT-TL2,MT-ND5,MT-ND6,MT-TE,MT-CYB,MT-TT,MT-TP,MT-ATP8,MT-ATP6,MT-CO3,MT-TG,MT-ND3,MT-TR,MT-ND4L,MT-DLOOP	8483:16084	7436 bp del	multiple	-	+	aging liver, muscle, testis	7436-bp deletion	references
MT-ATP8,MT-ATP6	8557	G-A	A-T	+	-	colonic crypts	.	references
MT-ATP8,MT-ATP6	8572	G-A	noncod	+	-	colonic crypts	.	references
MT-ATP6	8617	A-G	I-V	+	+	acute leukemia platelets, leukocytes & bone marrow	Heteroplasmic in acute leukemia, homoplasmic or absent in earlier stage.	references
MT-ATP6	8696	T-C	M-T	+	-	pancreatic cancer cell line	.	references
MT-ATP6	8697	G-A	syn	+	-	thyroid tumor	.	references
MT-ATP6	8701	A-G	T-A	+	-	thyroid tumors	.	references
MT-ATP6	8706	A-G	syn	+	-	thyroid tumor	.	references
MT-ATP6	8716	A-G	K-E	+	-	thyroid tumor	.	references
MT-ATP6,MT-CO3	8723:9215	491 bp del	multiple	-	+	alcoholic blood	.	references
MT-ATP6	9030	C-T	syn	+	-	thyroid tumor	.	references
MT-ATP6	9070	T-G	S-A	+	-	pancreatic cancer cell line	.	references
MT-ATP6	9078	T-C	syn	+	-	pancreatic cancer cell line	.	references
MT-ATP6	9110	T-C	I-T			MNGIE fibroblasts		references
MT-ATP6	9137	T-C	I-T	+	-	thyroid tumor	.	references
MT-CO3	9254	A-G	syn	+	-	pancreatic cancer cell line	.	references
MT-CO3	9296	C-T	syn	+	-	thyroid tumor	.	references
MT-CO3	9368	A-G	syn	+	-	pancreatic cancer cell line	.	references
MT-ND4,MT-TH,MT-TS2,MT-TL2,MT-ND5,MT-ND6,MT-TE,MT-CYB,MT-TT,MT-CO3,MT-TG,MT-ND3,MT-TR,MT-ND4L	9436:15913	6476 bp del	multiple	-	+	elderly muscle	6476-bp deletion	references
MT-CO3	9477	G-A	V-I	+	-	thyroid tumor	.	references
MT-CO3	9477	G-T	V-F	+	-	thyroid tumor	.	references
MT-CO3	9489	G-A	A-T	+	-	colonic crypts	.	references
MT-CO3	9537	C-del	frameshift	+	-	colonic crypts	.	references
MT-CO3	9537	C-CC	frameshift	+	-	colonic crypts	.	references
MT-CO3	9543	G-A	G-Ter	-	+	colonic crypts	.	references
MT-CO3	9544	G-A	G-E	+	-	colonic crypts	.	references
MT-CO3	9547	G-A	G-E	+	-	cloned platelet mtDNA	.	references
MT-CO3	9575	G-C	syn	+	-	thyroid tumor	.	references
MT-CO3	9655	G-A	S-N	+	-	thyroid tumor	.	references
MT-CO3	9691	C-T	A-V	+	-	thyroid tumor	.	references
MT-CO3	9746	G-A	syn	+	-	thyroid tumor	.	references
MT-CO3	9758	T-C	syn	.	.	MNGIE fibroblasts	.	references
MT-CO3	9774	G-A	D-N	+	-	colonic crypts	.	references
MT-CO3	9804	G-A	A-T	+	-	pancreatic cancer cell line	.	references
MT-CO3	9921	G-A	A-T	-	+	colonic crypts	.	references
MT-CO3	9948	G-A	V-I	+	-	papillary thyroid carcinoma	.	references
MT-CO3	9949	G-A	V-I	+	-	colorectal tumor	.	references
MT-CO3	9985	G-A	G-E	-	+	colonic crypts	.	references
MT-TG	10020	T-C	noncod	-	+	colonic crypts	.	references
MT-ND3	10071	T-C	syn	+	-	bladder tumor	.	references
MT-ND3	10158	T-C	S-P	-	+	MNGIE tissues	.	references
MT-ND3	10176	G-A	G-T	+	-	pancreatic cancer cell line	.	references
MT-ND3	10181	C-T	syn	+	-	thyroid tumor	.	references
MT-ND3	10197	G-C	A-P	+	-	thyroid tumor	.	references
MT-ND3	10221	T-C	F-L	-	+	MNGIE tissues	.	references
MT-ND3	10269	C-T	L-F	+	-	thyroid tumor	.	references
MT-ND3	10272	C-T	L-F	+	-	thyroid tumor	.	references
MT-ND3	10320	G-A	V-I	+	-	thyroid tumor	.	references
MT-ND3	10321	T-C	V-A	+	-	bladder tumor	.	references
MT-ND3	10398	A-G	T-A	+	-	thyroid tumor	.	references
MT-TR	10432	A-G	noncod	.	.	MNGIE fibroblasts	.	references
MT-TR	10463	T-C	noncod	+	-	endometrium tumor	.	references
MT-ND4L	10550	A-G	syn	+	-	endometrium control tissue	Normal in paired tumor tissue	references
MT-ND4L	10551	T-C	S-P	+	-	endometrium tumor	.	references
MT-ND4L	10563	T-C	C-R	+	-	colorectal tumor	.	references
MT-ND4L	10591	T-C	F-S	+	-	colonic crypts	.	references
MT-ND4L	10639	A-G	N-S	+	-	thyroid tumor	.	references
MT-ND4L	10640	T-C	syn	+	-	endometrium tumor	.	references
MT-ND4L	10691	C-G	syn	+	-	thyroid tumor	.	references
MT-ND4L	10715	C-T	syn	+	-	pancreatic cancer cell line	.	references
MT-ND4	10792	A-G	syn	+	-	bladder tumor	.	references
MT-ND4	10793	C-T	syn	+	-	thyroid tumor, bladder tumor	.	references
MT-ND4	10822	C-T	syn	+	-	bladder tumor, head/neck tumor	.	references
MT-ND4	10952	C-CC	frameshift	+	-	oncocytoma	.	references
MT-ND4	10970	T-C	F-L	+	-	pancreatic cancer cell line	.	references
MT-ND4	10978	A-G	syn	+	-	bladder tumor	.	references
MT-ND4	11009	T-C	syn	+	-	pancreatic cancer cell line	.	references
MT-ND4	11016	G-A	S-N	+	-	thyroid tumor	.	references
MT-ND4	11032:11038	A(7)-A(6)	frameshift	+	-	prostate tumor, oncocytoma	.	references
MT-ND4	11065	A-G	syn	+	-	bladder tumor	.	references
MT-ND4	11100	A-G	E-G	-	+	colonic crypts	.	references
MT-ND4	11126	G-A	E-K	+	-	papillary thyroid carcinoma	.	references
MT-ND4	11150	G-A	A-T	+	-	head/neck tumor	.	references
MT-ND4	11152	T-C	syn	+	-	pancreatic cancer cell line	.	references
MT-ND4	11324	T-C	S-P	.	.	MNGIE fibroblasts	.	references
MT-ND4	11332	C-T	syn	+	-	thyroid tumor	.	references
MT-ND4	11518	G-A	syn	+	-	bladder tumor	.	references
MT-ND4	11674	C-T	syn	+	-	pancreatic cancer cell line, prostate tumor	.	references
MT-ND4	11703	T-C	L-P	+	-	pancreatic cancer cell line	.	references
MT-ND4	11770	T-C	syn	-	+	colonic crypts	.	references
MT-ND4	11781	T-C	I-T	+	-	pancreatic cancer cell line, MNGIE fibroblasts	.	references
MT-ND4	11794	T-C	syn	-	+	oral cancer	.	references
MT-ND4	11840	C-T	syn	+	-	thyroid tumor	.	references
MT-ND4	11900	G-A	V-M	.	.	breast tumor	.	references
MT-ND4	11947	A-G	syn	+	-	prostate tumor	.	references
MT-ND4	11974	A-G	syn	+	-	pancreatic cancer cell line	.	references
MT-ND4	12049	C-T	syn	+	-	bladder tumor	.	references
MT-TH	12196	C-T	noncod	+	+	acute leukemia platelets, leukocytes & bone marrow	Heteroplasmic in acute leukemia, homoplasmic or absent in earlier stage.	references
MT-TS2	12220	A-G	noncod	-	+	aging liver & heart		references
MT-TS2	12233	C-del	noncod	-	+	control colon tissue	absent in paired tumor sample	references
MT-TS2	12236	G-A	noncod	+	-	thyroid tumor	.	references