EuRBPDB

Note: to get the extension of tumor abbreviations.

Cancer Related Information
Basic Information

Cancer associated literatures

PID	Title	Article	Time	Author	Doi
24861832	DNA polymerase ?? and its roles in genome stability.	IUBMB Life	2014 May	Henninger EE	doi: 10.1002/iub.1276
24051051	Human Pol ??-dependent replication errors and the influence of mismatch repair on their correction.	DNA Repair (Amst)	2013 Nov	Agbor AA	doi: 10.1016/j.dnarep.2013.08.012
27894751	Polymerase ?? (POLE) ultra-mutation in uterine tumors correlates with T lymphocyte infiltration and increased resistance to platinum-based chemotherapy in vitro.	Gynecol Oncol	2017 Jan	Bellone S	doi: 10.1016/j.ygyno.2016.11.023
27683556	Immunogenomics of Hypermutated Glioblastoma: A Patient with Germline POLE Deficiency Treated with Checkpoint Blockade Immunotherapy.	Cancer Discov	2016 Nov	Johanns TM	-
24509466	Polymerase proofreading-associated polyposis: a new, dominantly inherited syndrome of hereditary colorectal cancer predisposition.	Dis Colon Rectum	2014 Mar	Church JM	doi: 10.1097/DCR.0000000000000084.
26133394	POLE and POLD1 mutations in 529 kindred with familial colorectal cancer and/or polyposis: review of reported cases and recommendations for genetic testing and surveillance.	Genet Med	2016 Apr	Bellido F	doi: 10.1038/gim.2015.75
25224212	Polymerase (POLE) mutations in endometrial cancer: clinical outcomes and implications for Lynch syndrome testing.	Cancer	2015 Feb 1	Billingsley CC	doi: 10.1002/cncr.29046
17855454	Genetic variation in the DNA repair genes is predictive of outcome in lung cancer.	Hum Mol Genet	2007 Oct 1	Matakidou A	-
26493165	GREM1 and POLE variants in hereditary colorectal cancer syndromes.	Genes Chromosomes Cancer	2016 Jan	Rohlin A	doi: 10.1002/gcc.22314
19129559	Genomic changes of the 55 kDa subunit of DNA polymerase epsilon in human breast cancer.	Cancer Genomics Proteomics	2008 Sep-Oct	Zhou Q	-
23528559	DNA polymerase ?? and ?? exonuclease domain mutations in endometrial cancer.	Hum Mol Genet	2013 Jul 15	Church DN	doi: 10.1093/hmg/ddt131
25370038	Germline variants in POLE are associated with early onset mismatch repair deficient colorectal cancer.	Eur J Hum Genet	2015 Aug	Elsayed FA	doi: 10.1038/ejhg.2014.242
27612425	The somatic POLE P286R mutation defines a unique subclass of colorectal cancer featuring hypermutation, representing a potential genomic biomarker for immunotherapy.	Oncotarget	2016 Oct 18	Ahn SM	doi: 10.18632/oncotarget.11862.
28423643	POLE and POLD1 screening in 155 patients with multiple polyps and early-onset colorectal cancer.	Oncotarget	2017 Apr 18	Esteban-Jurado C	doi: 10.18632/oncotarget.15810.
28512192	Human mismatch repair system balances mutation rates between strands by removing more mismatches from the lagging strand.	Genome Res	2017 Aug	Andrianova MA	doi: 10.1101/gr.219915.116
29659608	Clinical impact of endometrial cancer stratified by genetic mutational profiles, POLE mutation, and microsatellite instability.	PLoS One	2018 Apr 16	Haruma T	doi: 10.1371/journal.pone.0195655

Differential Expression

Expression in 33 cancers

Mutations

Cancer	Chr	Position	Mutation Type	dbSNP	Protein-change	Allele Freq
ACC	chr12	132673267	Missense_Mutation	novel	T457R	0.2
ACC	chr12	132673267	Missense_Mutation	NA	T457M	0.24
BLCA	chr12	132642663	Nonsense_Mutation	novel	E1599*	0.11
BLCA	chr12	132668666	Silent	novel	R665R	0.44
BLCA	chr12	132680638	Missense_Mutation	novel	Y85C	0.34
BLCA	chr12	132672286	Missense_Mutation	novel	E575Q	0.32
BLCA	chr12	132643540	In_Frame_Ins	novel	A1437dup	0.25
BLCA	chr12	132642681	Missense_Mutation	novel	L1593V	0.24
BLCA	chr12	132634312	Missense_Mutation	NA	D1960H	0.21
BLCA	chr12	132661652	Silent	novel	L913L	0.24
BLCA	chr12	132648954	Missense_Mutation	rs766168647	A1375V	0.13
BLCA	chr12	132642327	Missense_Mutation	NA	R1675C	0.35
BLCA	chr12	132634356	Missense_Mutation	novel	G1945V	0.07
BLCA	chr12	132677440	Missense_Mutation	novel	H242D	0.31
BLCA	chr12	132624926	Silent	rs771312122	F2242F	0.61
BLCA	chr12	132676598	Missense_Mutation	NA	P286R	0.5
BLCA	chr12	132641675	Missense_Mutation	novel	E1784K	0.16
BLCA	chr12	132675496	Silent	novel	A376A	0.16
BLCA	chr12	132672702	Missense_Mutation	novel	E537D	0.29
BLCA	chr12	132681275	Missense_Mutation	novel	D23H	0.25
BLCA	chr12	132680645	Missense_Mutation	NA	D83H	0.17
BLCA	chr12	132632392	Missense_Mutation	novel	E2085K	0.27
BLCA	chr12	132634196	Missense_Mutation	novel	M1998I	0.26
BLCA	chr12	132672728	Missense_Mutation	novel	D529N	0.26
BLCA	chr12	132676181	Missense_Mutation	NA	E311D	0.08
BLCA	chr12	132642575	Missense_Mutation	NA	G1628A	0.45
BLCA	chr12	132632759	Missense_Mutation	novel	G2014A	0.08
BLCA	chr12	132657879	Missense_Mutation	novel	D1123H	0.17
BLCA	chr12	132649857	Silent	rs560825851	P1205P	0.21
BLCA	chr12	132679631	Missense_Mutation	novel	L148F	0.17
BLCA	chr12	132642278	Missense_Mutation	novel	R1691H	0.4
BLCA	chr12	132681137	Splice_Site	novel	X68_splice	0.36
BRCA	chr12	132625744	Silent	NA	L2186L	0.24
BRCA	chr12	132643480	Silent	NA	G1457G	0.14
BRCA	chr12	132675737	Splice_Region	NA	D368D	0.27
BRCA	chr12	132657952	In_Frame_Ins	novel	I1098_F1099insPRAIPLAI	0.37
BRCA	chr12	132673664	Missense_Mutation	rs483352909	L424V	0.23
BRCA	chr12	132624925	Missense_Mutation	rs747349009	A2243T	0.16
BRCA	chr12	132642222	Missense_Mutation	novel	D1710H	0.08
BRCA	chr12	132676619	Missense_Mutation	NA	T279N	0.19
BRCA	chr12	132642827	Missense_Mutation	novel	A1574D	0.05
BRCA	chr12	132672292	Missense_Mutation	rs373000452	R573W	0.18
BRCA	chr12	132639201	Missense_Mutation	rs762000608	R1826W	0.31
BRCA	chr12	132676598	Missense_Mutation	NA	P286R	0.29
BRCA	chr12	132641678	Missense_Mutation	rs149893630	D1783N	0.13
BRCA	chr12	132649837	Missense_Mutation	NA	M1212T	0.31
BRCA	chr12	132673688	Missense_Mutation	NA	Y416H	0.26
BRCA	chr12	132643852	Silent	rs762540089	G1425G	0.23
BRCA	chr12	132672728	Missense_Mutation	NA	D529Y	0.21
CESC	chr12	132673611	Silent	rs116573514	P441P	0.53
CESC	chr12	132639122	Splice_Region	novel		0.43
CESC	chr12	132639132	Missense_Mutation	NA	F1849V	0.32
CESC	chr12	132676565	Missense_Mutation	NA	S297F	0.56
CESC	chr12	132642924	Missense_Mutation	NA	G1542C	0.54
CESC	chr12	132680224	Splice_Site	NA	X96_splice	0.27
CESC	chr12	132657180	Nonsense_Mutation	novel	Q1180*	0.62
CESC	chr12	132664380	Missense_Mutation	NA	E851Q	0.53
CESC	chr12	132673277	Frame_Shift_Ins	novel	*T454Yfs49**	0.09
CESC	chr12	132672239	Silent	novel	V590V	0.35
CESC	chr12	132624769	Silent	NA	Q2263Q	0.52
CESC	chr12	132625720	Silent	novel	Y2194Y	0.4
CESC	chr12	132659318	Silent	rs556962209	P1084P	0.39
CESC	chr12	132661143	Silent	rs757682919	D962D	0.35
CESC	chr12	132665393	Missense_Mutation	rs376624527	R793C	0.37
CESC	chr12	132667560	Silent	rs145337550	Y754Y	0.38
CESC	chr12	132668888	Missense_Mutation	rs752076074	R616C	0.36
CESC	chr12	132673703	Missense_Mutation	NA	V411L	0.33
CESC	chr12	132677403	Missense_Mutation	rs200211438	P254L	0.55
CESC	chr12	132680622	Silent	rs751104931	D90D	0.3
CESC	chr12	132649826	Missense_Mutation	rs200114024	G1216S	0.46
CESC	chr12	132664433	Missense_Mutation	novel	G833D	0.32
CESC	chr12	132664410	Missense_Mutation	novel	N841D	0.32
CHOL	chr12	132626251	Missense_Mutation	novel	V2133L	0.4
COAD	chr12	132673627	Missense_Mutation	NA	P436R	0.41
COAD	chr12	132679510	Missense_Mutation	NA	A189T	0.37
COAD	chr12	132673219	Missense_Mutation	NA	Y473C	0.29
COAD	chr12	132668852	Missense_Mutation	NA	G628R	0.23
COAD	chr12	132681270	Silent	rs61751359	G24G	0.46
COAD	chr12	132673703	Missense_Mutation	NA	V411L	0.43
COAD	chr12	132626239	Missense_Mutation	NA	E2137K	0.29
COAD	chr12	132665439	Missense_Mutation	NA	K777N	0.23
COAD	chr12	132675741	Missense_Mutation	NA	F367S	0.34
COAD	chr12	132657208	Frame_Shift_Del	NA	*K1170Nfs49**	0.15
COAD	chr12	132676598	Missense_Mutation	NA	P286R	0.36
COAD	chr12	132649802	Missense_Mutation	NA	A1224T	0.4
COAD	chr12	132632681	Missense_Mutation	rs5745021	A2040V	0.26
COAD	chr12	132668438	Frame_Shift_Del	rs752846614	*L698Cfs94**	0.41
COAD	chr12	132665412	Silent	NA	G786G	0.35
COAD	chr12	132626152	Missense_Mutation	rs759795841	D2166N	0.14
COAD	chr12	132677606	Missense_Mutation	NA	R231H	0.34
COAD	chr12	132649373	Missense_Mutation	novel	T1313M	0.22
COAD	chr12	132659415	Missense_Mutation	NA	T1052M	0.24
COAD	chr12	132642909	Missense_Mutation	NA	P1547S	0.27
COAD	chr12	132676142	Frame_Shift_Del	NA	*K325Sfs19**	0.27
COAD	chr12	132626194	Missense_Mutation	rs138789360	V2152M	0.11
COAD	chr12	132632712	Frame_Shift_Del	NA	*A2030Pfs18**	0.14
COAD	chr12	132661620	Missense_Mutation	rs763594644	R924H	0.18
COAD	chr12	132661021	Missense_Mutation	NA	Y1003C	0.14
COAD	chr12	132648967	Nonsense_Mutation	rs151278283	R1371*	0.24
COAD	chr12	132649769	Missense_Mutation	NA	L1235I	0.21
COAD	chr12	132675438	Frame_Shift_Del	NA	*E396Sfs16**	0.1
COAD	chr12	132642349	Silent	rs112358554	F1667F	0.24
COAD	chr12	132642882	Missense_Mutation	rs768741587	R1556W	0.39
COAD	chr12	132673703	Missense_Mutation	NA	V411L	0.28
COAD	chr12	132673271	Missense_Mutation	NA	A456P	0.39
COAD	chr12	132677660	Missense_Mutation	novel	D213A	0.37
COAD	chr12	132679974	Missense_Mutation	NA	P135S	0.33
COAD	chr12	132649031	Silent	rs201746181	A1349A	0.15
COAD	chr12	132642226	Silent	rs114891564	F1708F	0.1
COAD	chr12	132649709	Missense_Mutation	NA	L1255V	0.21
COAD	chr12	132673703	Missense_Mutation	NA	V411L	0.25
COAD	chr12	132626194	Missense_Mutation	rs138789360	V2152M	0.37
COAD	chr12	132642993	Missense_Mutation	rs542430685	R1519C	0.25
COAD	chr12	132641771	Missense_Mutation	NA	D1752N	0.54
COAD	chr12	132668374	Missense_Mutation	rs765254190	E719K	0.35
COAD	chr12	132649831	Missense_Mutation	novel	D1214A	0.49
DLBC	chr12	132664028	Silent	rs757453683	G894G	0.18
ESCA	chr12	132642610	Silent	novel	K1616K	0.52
ESCA	chr12	132642715	Frame_Shift_Del	novel	*T1583Hfs11**	0.21
ESCA	chr12	132665321	Missense_Mutation	novel	G817C	0.23
ESCA	chr12	132657228	Missense_Mutation	novel	P1164A	0.24
ESCA	chr12	132649722	Silent	novel	P1250P	0.09
ESCA	chr12	132657370	Silent	novel	T1146T	0.14
ESCA	chr12	132673660	Missense_Mutation	novel	K425M	0.27
ESCA	chr12	132624986	Silent	novel	L2222L	0.52
ESCA	chr12	132642895	Silent	NA	H1551H	0.44
ESCA	chr12	132624601	3'UTR	novel		0.1
ESCA	chr12	132681173	Missense_Mutation	novel	G57R	0.26
ESCA	chr12	132643958	Missense_Mutation	rs200776293	R1390H	0.41
ESCA	chr12	132632727	Missense_Mutation	novel	V2025M	0.44
GBM	chr12	132642224	Missense_Mutation	novel	D1709G	0.2
GBM	chr12	132625672	Silent	novel	K2210K	0.12
GBM	chr12	132632352	Missense_Mutation	novel	N2098S	0.04
GBM	chr12	132639197	Missense_Mutation	rs763031537	S1827L	0.18
GBM	chr12	132668491	Missense_Mutation	rs764044031	R680C	0.51
GBM	chr12	132673703	Missense_Mutation	NA	V411L	0.4
GBM	chr12	132676555	Silent	novel	I300I	0.42
GBM	chr12	132679523	Silent	NA	S184S	0.21
GBM	chr12	132632713	Silent	novel	G2029G	0.72
GBM	chr12	132675428	Missense_Mutation	NA	A399V	0.44
GBM	chr12	132668816	Missense_Mutation	novel	L640M	0.09
GBM	chr12	132642670	Silent	novel	L1596L	0.14
GBM	chr12	132632756	Missense_Mutation	novel	L2015R	0.09
GBM	chr12	132639201	Missense_Mutation	rs762000608	R1826W	0.21
GBM	chr12	132659330	Silent	rs769386598	I1080I	0.24
GBM	chr12	132668393	Silent	rs755810756	R712R	0.1
GBM	chr12	132668898	Silent	rs116456858	D612D	0.23
GBM	chr12	132673271	Missense_Mutation	NA	A456P	0.54
GBM	chr12	132634258	Missense_Mutation	novel	N1978Y	0.03
GBM	chr12	132632683	Silent	novel	G2039G	0.33
GBM	chr12	132661080	Frame_Shift_Del	novel	*I984Sfs23**	0.06
GBM	chr12	132632747	Missense_Mutation	novel	S2018I	0.31
GBM	chr12	132643235	Missense_Mutation	novel	V1514L	0.12
HNSC	chr12	132642976	Silent	novel	P1524P	0.09
HNSC	chr12	132672220	Missense_Mutation	rs768396766	E597K	0.15
HNSC	chr12	132624595	3'UTR	novel		0.31
HNSC	chr12	132668437	Frame_Shift_Ins	rs767646338	*F699Vfs11**	0.38
HNSC	chr12	132672703	Missense_Mutation	NA	E537G	0.33
HNSC	chr12	132659297	Missense_Mutation	novel	E1091D	0.31
HNSC	chr12	132639154	Silent	rs754895008	L1841L	0.23
HNSC	chr12	132664464	Splice_Site	novel	X823_splice	0.3
HNSC	chr12	132648952	Nonsense_Mutation	novel	E1376*	0.15
HNSC	chr12	132675461	Missense_Mutation	novel	G388V	0.27
HNSC	chr12	132649387	Silent	NA	R1308R	0.25
HNSC	chr12	132657914	Missense_Mutation	rs114315196	R1111Q	0.29
HNSC	chr12	132681281	Splice_Site	novel	X21_splice	0.31
HNSC	chr12	132626239	Missense_Mutation	NA	E2137K	0.15
HNSC	chr12	132636015	Silent	novel	S1896S	0.31
HNSC	chr12	132668476	Missense_Mutation	rs116326665	R685W	0.3
HNSC	chr12	132639266	Missense_Mutation	novel	K1804R	0.5
KICH	chr12	132673625	Missense_Mutation	rs115047349	V437M	0.52
KIRC	chr12	132649712	Frame_Shift_Del	novel	*I1254Sfs107**	0.33
KIRC	chr12	132643314	Missense_Mutation	NA	I1487M	0.32
KIRC	chr12	132664065	Missense_Mutation	rs539312991	N882S	0.13
KIRC	chr12	132657887	Missense_Mutation	novel	Q1120P	0.08
KIRC	chr12	132657399	Missense_Mutation	NA	L1137M	0.23
KIRC	chr12	132643426	Missense_Mutation	NA	Q1475H	0.2
KIRP	chr12	132642939	Missense_Mutation	novel	L1537F	0.4
KIRP	chr12	132675818	Splice_Region	novel	A341A	0.29
LAML	chr12	132649417	Silent	novel	A1298A	0.57
LAML	chr12	132639162	Missense_Mutation	novel	R1839S	0.1
LGG	chr12	132638057	Missense_Mutation	rs767012802	R1879C	0.14
LGG	chr12	132673653	Silent	rs371586756	A427A	0.38
LGG	chr12	132677581	Silent	rs567612169	H239H	0.36
LGG	chr12	132624947	Silent	novel	Y2235Y	0.44
LGG	chr12	132626309	Silent	rs781680187	S2113S	0.26
LGG	chr12	132642641	Missense_Mutation	novel	F1606Y	0.15
LGG	chr12	132642882	Missense_Mutation	rs768741587	R1556W	0.38
LGG	chr12	132649846	Missense_Mutation	novel	A1209D	0.41
LGG	chr12	132664429	Silent	rs769459883	I834I	0.39
LGG	chr12	132675413	Missense_Mutation	novel	H404R	0.08
LIHC	chr12	132658103	Intron	novel		0.36
LIHC	chr12	132677710	Silent	novel	Q196Q	0.71
LIHC	chr12	132642545	Missense_Mutation	novel	N1638I	0.3
LIHC	chr12	132643332	Splice_Site	novel	X1482_splice	0.09
LIHC	chr12	132664086	Missense_Mutation	NA	N875T	0.29
LIHC	chr12	132641586	Intron	novel		0.41
LUAD	chr12	132667528	Missense_Mutation	NA	R765L	0.63
LUAD	chr12	132649414	Silent	novel	E1299E	0.06
LUAD	chr12	132642326	Missense_Mutation	NA	R1675H	0.55
LUAD	chr12	132681241	Missense_Mutation	NA	R34L	0.21
LUAD	chr12	132643443	Missense_Mutation	NA	M1470L	0.08
LUAD	chr12	132632758	Silent	NA	G2014G	0.38
LUAD	chr12	132679981	Missense_Mutation	NA	E132D	0.34
LUAD	chr12	132632501	Missense_Mutation	NA	I2048M	0.24
LUAD	chr12	132625357	Intron	novel		0.2
LUAD	chr12	132634360	Missense_Mutation	novel	G1944R	0.17
LUAD	chr12	132638017	Missense_Mutation	NA	S1892N	0.76
LUAD	chr12	132643855	Missense_Mutation	rs763572490	E1424D	0.51
LUAD	chr12	132649425	Missense_Mutation	novel	E1296K	0.26
LUAD	chr12	132657140	Missense_Mutation	novel	R1193T	0.27
LUAD	chr12	132632699	Missense_Mutation	NA	S2034Y	0.47
LUAD	chr12	132649460	Missense_Mutation	NA	R1284L	0.61
LUAD	chr12	132642947	Missense_Mutation	NA	H1534P	0.23
LUAD	chr12	132641774	Missense_Mutation	NA	A1751S	0.24
LUAD	chr12	132679990	Silent	NA	A129A	0.3
LUAD	chr12	132635906	Missense_Mutation	rs758762868	I1933V	0.35
LUAD	chr12	132649387	Silent	NA	R1308R	0.26
LUAD	chr12	132624681	3'UTR	novel		0.11
LUAD	chr12	132642876	Missense_Mutation	novel	E1558K	0.09
LUAD	chr12	132642349	Silent	rs112358554	F1667F	0.11
LUAD	chr12	132680186	Missense_Mutation	novel	T108S	0.14
LUAD	chr12	132680187	Silent	novel	A107A	0.14
LUAD	chr12	132660993	Silent	novel	Y1012Y	0.16
LUAD	chr12	132643307	Missense_Mutation	NA	Y1490H	0.53
LUAD	chr12	132668737	Missense_Mutation	NA	P642A	0.13
LUAD	chr12	132661080	Missense_Mutation	NA	K983N	0.35
LUAD	chr12	132657430	Splice_Site	novel	X1127_splice	0.38
LUAD	chr12	132632510	Splice_Site	novel	X2046_splice	0.09
LUAD	chr12	132673656	Silent	novel	A426A	0.19
LUAD	chr12	132638043	Silent	novel	A1883A	0.29
LUAD	chr12	132675517	Nonsense_Mutation	novel	W369*	0.03
LUAD	chr12	132632323	Missense_Mutation	NA	V2108L	0.65
LUAD	chr12	132672284	Silent	novel	E575E	0.13
LUAD	chr12	132625703	Missense_Mutation	novel	E2200G	0.79
LUAD	chr12	132664029	Missense_Mutation	novel	G894V	0.13
LUAD	chr12	132676562	Frame_Shift_Del	novel	*Y298Sfs2**	0.12
LUAD	chr12	132679547	Missense_Mutation	NA	K176N	0.18
LUAD	chr12	132672318	Missense_Mutation	novel	P564L	0.07
LUSC	chr12	132642516	Nonsense_Mutation	novel	E1648*	0.12
LUSC	chr12	132643914	Missense_Mutation	NA	D1405N	0.21
LUSC	chr12	132649858	Missense_Mutation	rs772686048	P1205L	0.13
LUSC	chr12	132639166	Silent	NA	L1837L	0.15
LUSC	chr12	132642819	Splice_Site	novel	X1576_splice	0.34
LUSC	chr12	132641708	Missense_Mutation	novel	G1773R	0.18
LUSC	chr12	132634198	Missense_Mutation	NA	M1998V	0.14
LUSC	chr12	132624986	Silent	NA	L2222L	0.07
LUSC	chr12	132657239	Missense_Mutation	rs757902862	R1160H	0.24
LUSC	chr12	132680224	Splice_Site	NA	X96_splice	0.4
LUSC	chr12	132638056	Missense_Mutation	novel	R1879L	0.13
LUSC	chr12	132676125	Missense_Mutation	novel	G330V	0.25
LUSC	chr12	132625697	Missense_Mutation	rs764457707	T2202M	0.25
LUSC	chr12	132634327	Missense_Mutation	rs755805420	D1955N	0.38
LUSC	chr12	132673578	Silent	novel	P452P	0.4
LUSC	chr12	132643483	Silent	novel	S1456S	0.18
LUSC	chr12	132659448	Missense_Mutation	rs774645622	R1041Q	0.08
LUSC	chr12	132657870	Missense_Mutation	novel	A1126S	0.12
LUSC	chr12	132624925	Missense_Mutation	NA	A2243S	0.27
LUSC	chr12	132659433	Missense_Mutation	novel	Y1046C	0.06
LUSC	chr12	132642824	Missense_Mutation	novel	Y1575C	0.15
LUSC	chr12	132642220	Silent	NA	D1710D	0.37
LUSC	chr12	132632695	Missense_Mutation	NA	Q2035H	0.21
LUSC	chr12	132639162	Missense_Mutation	rs141519273	R1839C	0.17
LUSC	chr12	132649460	Missense_Mutation	NA	R1284L	0.13
LUSC	chr12	132668394	Missense_Mutation	novel	R712L	0.3
LUSC	chr12	132661164	Missense_Mutation	novel	R955S	0.25
LUSC	chr12	132661165	Splice_Site	novel	X955_splice	0.24
LUSC	chr12	132649821	Silent	novel	L1217L	0.15
LUSC	chr12	132648933	Missense_Mutation	novel	R1382L	0.1
LUSC	chr12	132649480	Silent	novel	K1277K	0.19
LUSC	chr12	132643272	Silent	novel	G1501G	0.55
MESO	chr12	132659376	Missense_Mutation	novel	G1065V	0.3
OV	chr12	132677586	Missense_Mutation	novel	I238L	0.1
OV	chr12	132657364	Silent	novel	P1148P	0.07
OV	chr12	132661539	Missense_Mutation	novel	K951T	0.06
OV	chr12	132648959	In_Frame_Ins	novel	A1373_K1374insSLFKVLLWIRG	0.18
OV	chr12	132643852	Silent	novel	G1425G	0.31
OV	chr12	132639244	Missense_Mutation	novel	N1811K	0.06
OV	chr12	132643892	Missense_Mutation	novel	N1412T	0.18
OV	chr12	132677642	Missense_Mutation	novel	V219A	0.34
OV	chr12	132643324	Missense_Mutation	novel	I1484T	0.1
OV	chr12	132643945	Silent	NA	V1394V	0.91
OV	chr12	132668369	Frame_Shift_Del	novel	*R721Efs71**	0.03
OV	chr12	132624918	Missense_Mutation	NA	T2245N	0.5
PAAD	chr12	132624657	3'UTR	novel		0.18
PAAD	chr12	132624925	Missense_Mutation	rs747349009	A2243T	0.17
PAAD	chr12	132625281	Intron	novel		0.13
PAAD	chr12	132643532	Missense_Mutation	novel	H1440R	0.18
PAAD	chr12	132673612	Missense_Mutation	rs775340163	P441L	0.19
PCPG	chr12	132648945	Missense_Mutation	novel	G1378D	0.2
PRAD	chr12	132649813	Missense_Mutation	NA	L1220P	0.12
PRAD	chr12	132675432	Frame_Shift_Del	novel	*D392Gfs25**	0.09
PRAD	chr12	132677580	Missense_Mutation	rs371882716	V240M	0.35
PRAD	chr12	132673266	Silent	rs753216372	T457T	0.37
PRAD	chr12	132632788	Silent	rs147806951	I2004I	0.46
PRAD	chr12	132641848	Missense_Mutation	novel	C1726Y	0.22
PRAD	chr12	132643292	Missense_Mutation	novel	A1495T	0.31
PRAD	chr12	132667587	Silent	novel	T745T	0.36
PRAD	chr12	132673243	Missense_Mutation	NA	A465V	0.4
READ	chr12	132632763	Missense_Mutation	NA	D2013N	0.38
READ	chr12	132643949	Missense_Mutation	novel	M1393K	0.07
READ	chr12	132667547	Missense_Mutation	rs759398253	R759C	0.39
READ	chr12	132658064	Intron	NA		0.35
READ	chr12	132673261	Missense_Mutation	NA	S459F	0.37
READ	chr12	132641751	Silent	NA	F1758F	0.62
READ	chr12	132659480	Silent	rs766306895	F1030F	0.36
READ	chr12	132673261	Missense_Mutation	NA	S459F	0.36
READ	chr12	132679627	Nonsense_Mutation	rs775815329	R150*	0.34
READ	chr12	132657982	Intron	novel		0.5
READ	chr12	132676598	Missense_Mutation	NA	P286R	0.38
SARC	chr12	132676146	Missense_Mutation	novel	T323S	0.35
SARC	chr12	132672647	Missense_Mutation	novel	I556V	0.23
SARC	chr12	132643440	Missense_Mutation	rs528264567	R1471C	0.42
SARC	chr12	132661138	Missense_Mutation	novel	S964F	0.33
SKCM	chr12	132675449	Missense_Mutation	NA	D392G	0.44
SKCM	chr12	132657157	Silent	NA	F1187F	0.42
SKCM	chr12	132624793	Silent	rs376336585	I2255I	0.19
SKCM	chr12	132675735	Nonsense_Mutation	NA	W369*	0.22
SKCM	chr12	132648934	Missense_Mutation	rs5744904	R1382C	0.86
SKCM	chr12	132635948	Missense_Mutation	novel	P1919S	0.36
SKCM	chr12	132657367	Silent	rs748278223	I1147I	0.13
SKCM	chr12	132641832	Silent	NA	L1731L	0.31
SKCM	chr12	132657384	Missense_Mutation	novel	Q1142K	0.11
SKCM	chr12	132635959	Missense_Mutation	novel	L1915H	0.4
SKCM	chr12	132632383	Missense_Mutation	rs749342382	P2088S	0.13
SKCM	chr12	132668722	Missense_Mutation	novel	D647N	0.17
SKCM	chr12	132668915	Missense_Mutation	NA	L607F	0.28
SKCM	chr12	132672696	Silent	rs775930793	Y539Y	0.08
SKCM	chr12	132661142	Missense_Mutation	NA	G963R	0.47
SKCM	chr12	132676112	Silent	novel	V334V	0.32
SKCM	chr12	132677608	Silent	NA	I230I	0.56
SKCM	chr12	132626127	Missense_Mutation	novel	S2174F	0.27
SKCM	chr12	132625307	Intron	novel		0.38
SKCM	chr12	132681218	Missense_Mutation	NA	D42N	0.66
SKCM	chr12	132681219	Silent	rs5744734	T41T	0.67
SKCM	chr12	132665349	Silent	NA	A807A	0.45
SKCM	chr12	132642290	Missense_Mutation	NA	S1687F	0.35
SKCM	chr12	132625257	Intron	novel		0.17
SKCM	chr12	132668396	Silent	novel	S711S	0.17
SKCM	chr12	132649448	Missense_Mutation	novel	A1288V	0.1
SKCM	chr12	132649821	Silent	rs765445494	L1217L	0.14
SKCM	chr12	132649447	Silent	NA	A1288A	0.12
SKCM	chr12	132659462	Missense_Mutation	NA	N1036K	0.21
SKCM	chr12	132643290	Silent	NA	A1495A	0.23
SKCM	chr12	132642903	Missense_Mutation	rs147500308	P1549S	0.22
SKCM	chr12	132657157	Silent	NA	F1187F	0.14
SKCM	chr12	132649342	Silent	novel	A1323A	0.38
SKCM	chr12	132649343	Missense_Mutation	rs550525366	A1323V	0.38
SKCM	chr12	132659510	Splice_Site	NA	X1021_splice	0.42
SKCM	chr12	132659333	Silent	novel	I1079I	0.43
SKCM	chr12	132673682	Missense_Mutation	NA	P418S	0.3
SKCM	chr12	132624691	3'UTR	novel		0.32
SKCM	chr12	132626215	Nonsense_Mutation	NA	R2145*	0.32
SKCM	chr12	132626216	Silent	rs775605353	F2144F	0.31
SKCM	chr12	132649399	Silent	rs116482376	P1304P	0.37
SKCM	chr12	132643962	Missense_Mutation	NA	P1389S	0.1
SKCM	chr12	132642226	Silent	rs114891564	F1708F	0.35
SKCM	chr12	132632480	Silent	NA	V2055V	0.29
SKCM	chr12	132635991	Silent	NA	T1904T	0.21
SKCM	chr12	132649692	Silent	NA	A1260A	0.34
SKCM	chr12	132667543	Missense_Mutation	novel	A760V	0.4
SKCM	chr12	132657227	Missense_Mutation	NA	P1164L	0.2
SKCM	chr12	132625336	Intron	novel		0.57
SKCM	chr12	132668443	Missense_Mutation	rs753660412	P696S	0.06
SKCM	chr12	132659381	Silent	novel	F1063F	0.13
SKCM	chr12	132667614	Silent	novel	I736I	0.32
SKCM	chr12	132672656	Missense_Mutation	NA	R553C	0.4
STAD	chr12	132632680	Silent	NA	A2040A	0.13
STAD	chr12	132677625	Missense_Mutation	NA	D225N	0.36
STAD	chr12	132657172	Silent	NA	K1182K	0.2
STAD	chr12	132626299	Missense_Mutation	novel	N2117D	0.21
STAD	chr12	132642993	Missense_Mutation	rs542430685	R1519C	0.27
STAD	chr12	132624976	Missense_Mutation	rs766291093	G2226R	0.24
STAD	chr12	132634323	Missense_Mutation	NA	E1956G	0.31
STAD	chr12	132643525	Silent	NA	G1442G	0.24
STAD	chr12	132679518	Missense_Mutation	rs151325267	A186V	0.05
STAD	chr12	132664392	Missense_Mutation	NA	R847W	0.06
STAD	chr12	132624812	Splice_Site	novel	X2250_splice	0.38
STAD	chr12	132641786	Missense_Mutation	rs753105796	D1747N	0.24
STAD	chr12	132632792	Missense_Mutation	NA	Y2003C	0.3
STAD	chr12	132673703	Missense_Mutation	NA	V411L	0.31
STAD	chr12	132641692	Missense_Mutation	novel	A1778D	0.25
STAD	chr12	132673588	Missense_Mutation	rs780299012	T449M	0.37
STAD	chr12	132676598	Missense_Mutation	NA	P286L	0.3
STAD	chr12	132634290	Missense_Mutation	rs201273415	A1967V	0.47
STAD	chr12	132657914	Missense_Mutation	rs114315196	R1111Q	0.25
STAD	chr12	132668488	Missense_Mutation	NA	S681R	0.09
STAD	chr12	132673217	Missense_Mutation	NA	V474I	0.19
STAD	chr12	132665309	Missense_Mutation	NA	R821C	0.38
STAD	chr12	132680685	Splice_Region	rs146986360	T69T	0.24
STAD	chr12	132632751	Missense_Mutation	rs115452769	R2017C	0.26
STAD	chr12	132649341	Missense_Mutation	rs779464847	R1324C	0.21
STAD	chr12	132658075	Intron	novel		0.3
STAD	chr12	132659461	Missense_Mutation	NA	R1037C	0.15
STAD	chr12	132672662	Frame_Shift_Del	novel	*V551Ffs12**	0.4
STAD	chr12	132677632	Silent	NA	R222R	0.09
STAD	chr12	132643965	Missense_Mutation	NA	L1388I	0.16
STAD	chr12	132672298	Silent	novel	L571L	0.27
STAD	chr12	132664446	Missense_Mutation	rs762395135	M829V	0.12
STAD	chr12	132679523	Silent	NA	S184S	0.3
STAD	chr12	132643242	Silent	NA	S1511S	0.33
STAD	chr12	132634348	Missense_Mutation	rs748652801	D1948Y	0.16
STAD	chr12	132642992	Missense_Mutation	rs376530977	R1519H	0.23
STAD	chr12	132642901	Frame_Shift_Del	novel	*K1550Nfs12**	0.23
STAD	chr12	132634265	Silent	NA	L1975L	0.32
STAD	chr12	132638098	Missense_Mutation	NA	Y1865C	0.06
STAD	chr12	132668395	Missense_Mutation	rs749194160	R712C	0.31
STAD	chr12	132641812	Missense_Mutation	novel	T1738N	0.24
STAD	chr12	132642254	Missense_Mutation	novel	A1699D	0.34
STAD	chr12	132668437	Frame_Shift_Ins	rs767646338	*F699Vfs11**	0.34
STAD	chr12	132680042	Missense_Mutation	NA	C112F	0.09
STAD	chr12	132665393	Missense_Mutation	rs376624527	R793C	0.18
STAD	chr12	132668668	Missense_Mutation	rs367902268	R665W	0.26
STAD	chr12	132680048	Splice_Site	NA	X111_splice	0.17
STAD	chr12	132660984	Silent	rs753809068	D1015D	0.1
STAD	chr12	132677436	Frame_Shift_Ins	novel	*W243Lfs20**	0.2
UCEC	chr12	132638097	Silent	rs370958363	Y1865Y	0.47
UCEC	chr12	132642226	Silent	rs114891564	F1708F	0.32
UCEC	chr12	132665325	Missense_Mutation	NA	F815L	0.36
UCEC	chr12	132676598	Missense_Mutation	NA	P286R	0.32
UCEC	chr12	132625705	Silent	rs147611144	I2199I	0.29
UCEC	chr12	132639201	Missense_Mutation	rs762000608	R1826W	0.38
UCEC	chr12	132649769	Missense_Mutation	NA	L1235I	0.3
UCEC	chr12	132673703	Missense_Mutation	NA	V411L	0.52
UCEC	chr12	132641566	Intron	novel		0.33
UCEC	chr12	132641751	Silent	NA	F1758F	0.35
UCEC	chr12	132665372	Silent	novel	L800L	0.38
UCEC	chr12	132673703	Missense_Mutation	NA	V411L	0.3
UCEC	chr12	132641535	Intron	novel		0.21
UCEC	chr12	132642866	Missense_Mutation	rs747250998	L1561P	0.25
UCEC	chr12	132648939	Missense_Mutation	rs762090058	S1380L	0.32
UCEC	chr12	132672726	Silent	rs574092762	D529D	0.1
UCEC	chr12	132676598	Missense_Mutation	NA	P286R	0.34
UCEC	chr12	132632791	Silent	novel	Y2003Y	0.57
UCEC	chr12	132673703	Missense_Mutation	NA	V411L	0.36
UCEC	chr12	132643530	Silent	novel	L1441L	0.16
UCEC	chr12	132668387	Silent	NA	E714E	0.44
UCEC	chr12	132676598	Missense_Mutation	NA	P286R	0.51
UCEC	chr12	132676598	Missense_Mutation	NA	P286R	0.32
UCEC	chr12	132634328	Silent	rs369929044	D1954D	0.34
UCEC	chr12	132648977	Silent	rs780694561	Y1367Y	0.55
UCEC	chr12	132659367	Missense_Mutation	rs375338204	M1068T	0.46
UCEC	chr12	132675739	Missense_Mutation	NA	D368Y	0.26
UCEC	chr12	132676598	Missense_Mutation	NA	P286R	0.6
UCEC	chr12	132632761	Silent	rs371563366	D2013D	0.41
UCEC	chr12	132649775	Nonsense_Mutation	novel	R1233*	0.34
UCEC	chr12	132672723	Silent	novel	D530D	0.45
UCEC	chr12	132673627	Missense_Mutation	NA	P436R	0.42
UCEC	chr12	132626159	Silent	novel	F2163F	0.11
UCEC	chr12	132632681	Missense_Mutation	rs5745021	A2040V	0.14
UCEC	chr12	132657251	Missense_Mutation	novel	N1156I	0.36
UCEC	chr12	132657881	Missense_Mutation	novel	F1122C	0.28
UCEC	chr12	132665412	Silent	NA	G786G	0.35
UCEC	chr12	132676565	Missense_Mutation	NA	S297F	0.33
UCEC	chr12	132677631	Missense_Mutation	rs761757009	E223K	0.13
UCEC	chr12	132632663	Splice_Site	novel	X2046_splice	0.31
UCEC	chr12	132632782	Silent	rs111709550	A2006A	0.44
UCEC	chr12	132634277	Silent	rs532175815	N1971N	0.44
UCEC	chr12	132661035	Silent	rs777955589	T998T	0.49
UCEC	chr12	132673255	Missense_Mutation	NA	S461L	0.42
UCEC	chr12	132676598	Missense_Mutation	NA	P286R	0.23
UCEC	chr12	132673703	Missense_Mutation	NA	V411L	0.53
UCEC	chr12	132673271	Missense_Mutation	NA	A456P	0.35
UCEC	chr12	132642889	Silent	rs767021717	F1553F	0.29
UCEC	chr12	132657422	Missense_Mutation	NA	D1129G	0.29
UCEC	chr12	132676598	Missense_Mutation	NA	P286R	0.36
UCEC	chr12	132626314	Missense_Mutation	NA	L2112M	0.29
UCEC	chr12	132672651	Silent	rs752219944	S554S	0.22
UCEC	chr12	132676565	Missense_Mutation	NA	S297F	0.22
UCEC	chr12	132665429	Missense_Mutation	novel	A781S	0.32
UCEC	chr12	132668437	Frame_Shift_Ins	rs767646338	*F699Vfs11**	0.53
UCEC	chr12	132673703	Missense_Mutation	NA	V411L	0.2
UCEC	chr12	132677657	Missense_Mutation	NA	Q214R	0.1
UCEC	chr12	132675741	Missense_Mutation	NA	F367S	0.22
UCEC	chr12	132676555	Silent	novel	I300I	0.16
UCEC	chr12	132675752	Silent	rs146639652	N363N	0.14
UCEC	chr12	132673652	Missense_Mutation	rs150032060	A428T	0.3
UCEC	chr12	132643483	Silent	novel	S1456S	0.08
UCEC	chr12	132673261	Missense_Mutation	NA	S459F	0.5
UCEC	chr12	132624938	Silent	rs200082120	C2238C	0.63
UCEC	chr12	132638057	Missense_Mutation	rs767012802	R1879C	0.28
UCEC	chr12	132642883	Silent	NA	V1555V	0.52
UCEC	chr12	132648988	Missense_Mutation	rs770024304	R1364C	0.79
UCEC	chr12	132661679	Silent	NA	G904G	0.26
UCEC	chr12	132673703	Missense_Mutation	NA	V411L	0.57
UCEC	chr12	132673703	Missense_Mutation	NA	V411L	0.47
UCEC	chr12	132642256	Missense_Mutation	NA	E1698D	0.15
UCEC	chr12	132675420	Missense_Mutation	novel	C402R	0.19
UCEC	chr12	132661060	Missense_Mutation	novel	F990C	0.17
UCEC	chr12	132634260	Missense_Mutation	rs749637908	E1977G	0.39
UCEC	chr12	132668476	Missense_Mutation	rs116326665	R685W	0.23
UCEC	chr12	132676598	Missense_Mutation	NA	P286R	0.21
UCEC	chr12	132676599	Missense_Mutation	NA	P286S	0.1
UCEC	chr12	132624938	Silent	rs200082120	C2238C	0.44
UCEC	chr12	132673664	Missense_Mutation	NA	L424I	0.4
UCEC	chr12	132676598	Missense_Mutation	NA	P286R	0.78
UCEC	chr12	132649308	Nonsense_Mutation	novel	Q1335*	0.26
UCEC	chr12	132649789	Missense_Mutation	novel	T1228N	0.22
UCEC	chr12	132632727	Missense_Mutation	novel	V2025M	0.19
UCEC	chr12	132626269	Nonsense_Mutation	novel	R2127*	0.4
UCEC	chr12	132661644	Missense_Mutation	novel	P916L	0.32
UCEC	chr12	132668375	Silent	novel	Y718Y	0.31
UCEC	chr12	132673664	Missense_Mutation	NA	L424I	0.29
UCEC	chr12	132668437	Frame_Shift_Ins	rs767646338	*F699Vfs11**	0.4
UCEC	chr12	132673576	Missense_Mutation	NA	Q453R	0.38
UCEC	chr12	132675752	Silent	rs146639652	N363N	0.13
UCEC	chr12	132675739	Frame_Shift_Ins	NA	D368*	0.11
UCEC	chr12	132676598	Missense_Mutation	NA	P286R	0.4
UCEC	chr12	132673261	Missense_Mutation	NA	S459F	0.37
UCEC	chr12	132661001	Missense_Mutation	novel	A1010T	0.33
UCEC	chr12	132661096	Missense_Mutation	novel	E978G	0.38
UCEC	chr12	132661644	Missense_Mutation	novel	P916L	0.39
UCEC	chr12	132667597	Missense_Mutation	rs116360781	R742H	0.43
UCEC	chr12	132668455	Missense_Mutation	novel	S692P	0.1
UCEC	chr12	132675460	Silent	novel	G388G	0.49
UCEC	chr12	132676100	Silent	rs143102561	P338P	0.4
UCEC	chr12	132632677	Silent	rs754324470	V2041V	1
UCEC	chr12	132664429	Silent	rs769459883	I834I	0.31
UCEC	chr12	132673657	Missense_Mutation	rs374920539	A426V	0.44
UCEC	chr12	132665393	Missense_Mutation	rs376624527	R793C	0.36
UCEC	chr12	132676598	Missense_Mutation	NA	P286R	0.54
UCEC	chr12	132638026	Missense_Mutation	NA	Y1889C	0.38
UCEC	chr12	132632728	Frame_Shift_Del	rs754630848	V2025*	0.43
UCEC	chr12	132634290	Missense_Mutation	rs201273415	A1967V	0.33
UCEC	chr12	132657935	Missense_Mutation	rs531705054	T1104M	0.4
UCEC	chr12	132673271	Missense_Mutation	NA	A456P	0.36
UCEC	chr12	132679643	Missense_Mutation	NA	H144Q	0.33
UCEC	chr12	132673664	Missense_Mutation	rs483352909	L424V	0.21
UCEC	chr12	132634235	Missense_Mutation	novel	F1985L	0.29
UCEC	chr12	132676598	Missense_Mutation	NA	P286R	0.39
UCEC	chr12	132680611	Missense_Mutation	novel	F94C	0.35
UCEC	chr12	132642287	Missense_Mutation	novel	P1688L	0.33
UCEC	chr12	132643469	Missense_Mutation	novel	E1461V	0.26
UCEC	chr12	132658139	Intron	novel		0.25
UCEC	chr12	132639201	Missense_Mutation	rs762000608	R1826W	0.4
UCEC	chr12	132641751	Silent	NA	F1758F	0.17
UCEC	chr12	132649769	Missense_Mutation	NA	L1235I	0.15
UCEC	chr12	132673653	Silent	rs371586756	A427A	0.2
UCEC	chr12	132676598	Missense_Mutation	NA	P286R	0.36
UCEC	chr12	132679625	Silent	novel	R150R	0.12
UCEC	chr12	132680024	Missense_Mutation	novel	S118Y	0.13
UCEC	chr12	132642526	Silent	novel	S1644S	0.39
UCEC	chr12	132661644	Missense_Mutation	novel	P916L	0.48
UCEC	chr12	132665412	Silent	NA	G786G	0.46
UCEC	chr12	132673703	Missense_Mutation	NA	V411L	0.42
UCEC	chr12	132661103	Missense_Mutation	NA	R976S	0.39
UCEC	chr12	132667531	Missense_Mutation	novel	R764M	0.45
UCEC	chr12	132643970	Missense_Mutation	novel	R1386Q	0.29
UCEC	chr12	132634203	Missense_Mutation	novel	F1996S	0.35
UCEC	chr12	132673703	Missense_Mutation	NA	V411L	0.28
UCEC	chr12	132632677	Silent	rs754324470	V2041V	0.24
UCEC	chr12	132642721	Silent	rs774453650	R1579R	0.44
UCEC	chr12	132642846	Missense_Mutation	novel	I1568V	0.35
UCEC	chr12	132658011	Intron	novel		0.22
UCEC	chr12	132673703	Missense_Mutation	NA	V411L	0.3
UCEC	chr12	132673647	Missense_Mutation	novel	K429N	0.38
UCEC	chr12	132676622	Missense_Mutation	rs764254754	T278M	0.27
UCEC	chr12	132642226	Silent	rs114891564	F1708F	0.32
UCEC	chr12	132659423	Missense_Mutation	novel	Q1049H	0.49
UCEC	chr12	132649349	Missense_Mutation	novel	R1321K	0.36
UCEC	chr12	132657226	Silent	rs754348616	P1164P	0.44
UCEC	chr12	132676598	Missense_Mutation	NA	P286R	0.39
UCEC	chr12	132673657	Missense_Mutation	rs374920539	A426V	0.06
UCEC	chr12	132676598	Missense_Mutation	NA	P286R	0.22
UCEC	chr12	132668416	Missense_Mutation	rs200621883	R705W	0.16
UCEC	chr12	132673218	Silent	rs369961557	Y473Y	0.23
UCEC	chr12	132649419	Missense_Mutation	novel	A1298T	0.36
UCEC	chr12	132672778	Missense_Mutation	novel	A512V	0.44
UCEC	chr12	132675741	Missense_Mutation	NA	F367S	0.34
UCEC	chr12	132680202	Silent	rs759888478	P102P	0.22
UCEC	chr12	132672313	Missense_Mutation	rs773813430	A566T	0.28
UCEC	chr12	132661674	Missense_Mutation	novel	T906I	0.41
UCEC	chr12	132639205	Missense_Mutation	novel	W1824C	0.27
UCEC	chr12	132649704	Silent	rs776702809	G1256G	0.14
UCEC	chr12	132657390	Missense_Mutation	rs775271152	A1140T	0.45
UCEC	chr12	132641765	Missense_Mutation	novel	M1754V	0.14
UCEC	chr12	132649792	Missense_Mutation	novel	V1227D	0.22
UCEC	chr12	132661076	Missense_Mutation	novel	F985L	0.12
UCEC	chr12	132665312	Missense_Mutation	novel	M820V	0.08
UCEC	chr12	132639300	Splice_Site	novel	X1793_splice	0.16
UCEC	chr12	132642688	Silent	novel	S1590S	0.3
UCEC	chr12	132641688	Silent	rs749991080	P1779P	0.27
UCEC	chr12	132680203	Missense_Mutation	rs770323795	P102L	0.19
UCEC	chr12	132681242	Missense_Mutation	rs771051323	R34C	0.26
UCEC	chr12	132676598	Missense_Mutation	NA	P286R	0.45
UCEC	chr12	132673603	Missense_Mutation	NA	M444K	0.41
UCEC	chr12	132676598	Missense_Mutation	NA	P286R	0.3
UCEC	chr12	132624742	Silent	NA	E2272E	0.34
UCEC	chr12	132632320	Missense_Mutation	NA	C2109R	0.26
UCEC	chr12	132676598	Missense_Mutation	NA	P286R	0.35
UCEC	chr12	132676598	Missense_Mutation	NA	P286R	0.41
UCEC	chr12	132673703	Missense_Mutation	NA	V411L	0.3
UCEC	chr12	132632394	Missense_Mutation	rs748371797	S2084L	0.14
UCEC	chr12	132649731	Silent	rs368978839	P1247P	0.16
UCEC	chr12	132649878	Silent	rs200803943	A1198A	0.59
UCEC	chr12	132668443	Missense_Mutation	rs753660412	P696S	0.34
UCEC	chr12	132672628	Missense_Mutation	novel	M562T	0.15
UCEC	chr12	132680037	Nonsense_Mutation	novel	R114*	0.11
UCEC	chr12	132676598	Missense_Mutation	NA	P286R	0.63
UCEC	chr12	132677368	Nonsense_Mutation	rs767666219	R266*	0.35
UCEC	chr12	132680037	Nonsense_Mutation	novel	R114*	0.42
UCEC	chr12	132632396	Silent	NA	L2083L	0.26
UCEC	chr12	132643299	Silent	rs5744943	H1492H	0.31
UCEC	chr12	132643852	Silent	rs762540089	G1425G	0.27
UCEC	chr12	132673664	Missense_Mutation	NA	L424I	0.25
UCEC	chr12	132680037	Nonsense_Mutation	novel	R114*	0.07
UCEC	chr12	132680201	Missense_Mutation	NA	Y103H	0.07
UCEC	chr12	132634221	Missense_Mutation	novel	A1990V	0.52
UCEC	chr12	132635986	Missense_Mutation	novel	S1906Y	0.41
UCEC	chr12	132638084	Missense_Mutation	rs138231414	R1870C	0.46
UCEC	chr12	132649821	Silent	rs765445494	L1217L	0.42
UCEC	chr12	132657391	Silent	rs762838377	S1139S	0.45
UCEC	chr12	132676598	Missense_Mutation	NA	P286R	0.43
UCEC	chr12	132632456	Missense_Mutation	novel	F2063L	0.38
UCEC	chr12	132634328	Silent	rs369929044	D1954D	0.23
UCEC	chr12	132642527	Missense_Mutation	rs771896231	S1644L	0.27
UCEC	chr12	132668422	Missense_Mutation	novel	P703S	0.35
UCEC	chr12	132673703	Missense_Mutation	NA	V411L	0.37
UCEC	chr12	132626151	Missense_Mutation	novel	D2166G	0.47
UCEC	chr12	132675437	Missense_Mutation	NA	E396G	0.45
UCS	chr12	132676598	Missense_Mutation	NA	P286R	0.33
UCS	chr12	132649399	Silent	rs116482376	P1304P	0.49

Copy Number Variations (CNVs)

Cancer	Type	Freq	Q-value
BLCA	DEL	0.1544	0.22328
BRCA	DEL	0.1583	6.3933e-07
CHOL	DEL	0.2222	0.067545
HNSC	DEL	0.0805	0.22646
LIHC	DEL	0.1243	2.3723e-05
LUAD	DEL	0.1609	0.0059643
LUSC	DEL	0.1178	0.038823
OV	DEL	0.3368	9.8572e-12
PAAD	DEL	0.1739	0.0030251
PRAD	DEL	0.0691	0.024258
SARC	DEL	0.2179	0.2358
SKCM	DEL	0.1907	0.00079981
UCEC	DEL	0.0891	0.00053229
UCS	DEL	0.3393	0.033261

Survival Analysis

Cancer	P-value	Q-value
THYM	0.003	Kaplan-Meier Survival Analysis
KIRC	0.00011	Kaplan-Meier Survival Analysis
SARC	0.0029	Kaplan-Meier Survival Analysis
MESO	0.00035	Kaplan-Meier Survival Analysis
ACC	0.00011	Kaplan-Meier Survival Analysis
UCS	0.033	Kaplan-Meier Survival Analysis
HNSC	0.034	Kaplan-Meier Survival Analysis
SKCM	0.0001	Kaplan-Meier Survival Analysis
KIRP	0.0017	Kaplan-Meier Survival Analysis
PCPG	0.019	Kaplan-Meier Survival Analysis
CESC	0.0062	Kaplan-Meier Survival Analysis
KICH	0.00062	Kaplan-Meier Survival Analysis
UCEC	0.011	Kaplan-Meier Survival Analysis
LIHC	0.015	Kaplan-Meier Survival Analysis
LGG	0.00025	Kaplan-Meier Survival Analysis
LUAD	0.025	Kaplan-Meier Survival Analysis
UVM	0.0021	Kaplan-Meier Survival Analysis

Drugs

Cell lines and drugs in GSE70138 or GSE92742

Description

RBPome

Expression

Transcripts

Gene Model

Pathways

Phenotypes

GWAS

PPI

Orthologs

Gene Ontology

Description

Ensembl ID: ENSG00000177084 (Gene tree)
Gene ID: 5426
Gene Symbol: POLE
Alias: POLE1
Full Name: DNA polymerase epsilon, catalytic subunit
Gene Type: protein_coding
Species: Homo_sapiens
Status: putative
Strand: Minus strand
Length: 63,772 bases
Position: chr12:132,623,753-132,687,524
Accession: 9177
RBP type: non-canonical RBP
Summary: This gene encodes the catalytic subunit of DNA polymerase epsilon. The enzyme is involved in DNA repair and chromosomal DNA replication. Mutations in this gene have been associated with colorectal cancer 12 and facial dysmorphism, immunodeficiency, livedo, and short stature. [provided by RefSeq, Sep 2013]

RNA binding proteome (RBPome)

PID	Title	Method	Time	Author	Doi
30607034	Comprehensive identification of RNA protein interactions in any organism using orthogonal organic phase separation (OOPS)	OOPS & HEK293	2019 Jan 3	Queiroz RML	DOI: 10.1038/s41587-018-0001-2
29431736	Capturing the interactome of newly transcribed RNA	PolyT-RICK & Hela	2018 Feb 12	Bao X	DOI: 10.1038/nmeth.4595
29431736	Capturing the interactome of newly transcribed RNA	RICK & Hela	2018 Feb 12	Bao X	DOI: 10.1038/nmeth.4595
30607034	Comprehensive identification of RNA protein interactions in any organism using orthogonal organic phase separation (OOPS)	OOPS & U2OS	2019 Jan 3	Queiroz RML	DOI: 10.1038/s41587-018-0001-2

Expression

Transcripts

Transcript ID	Name	Length	RefSeq ID	Protein ID	Length	RefSeq ID	UniportKB ID
ENST00000535934	POLE-208	1561	-	-	- (aa)	-	-
ENST00000545015	POLE-222	366	-	-	- (aa)	-	-
ENST00000539618	POLE-214	299	-	-	- (aa)	-	-
ENST00000544870	POLE-221	659	-	ENSP00000479927	150 (aa)	-	A0A087WW42
ENST00000441786	POLE-204	556	-	ENSP00000480727	154 (aa)	-	A0A087WX51
ENST00000540987	POLE-215	587	-	-	- (aa)	-	-
ENST00000534922	POLE-206	1660	-	-	- (aa)	-	-
ENST00000538196	POLE-211	551	-	-	- (aa)	-	-
ENST00000542362	POLE-218	508	-	-	- (aa)	-	-
ENST00000541213	POLE-216	1675	-	-	- (aa)	-	-
ENST00000320574	POLE-201	7840	XM_011534795	ENSP00000322570	2286 (aa)	XP_011533097	Q07864
ENST00000541627	POLE-217	2105	-	-	- (aa)	-	-
ENST00000544692	POLE-220	2221	-	-	- (aa)	-	-
ENST00000539357	POLE-213	364	-	-	- (aa)	-	-
ENST00000539215	POLE-212	483	-	-	- (aa)	-	-
ENST00000536445	POLE-209	2334	-	-	- (aa)	-	-
ENST00000535270	POLE-207	6800	XM_011534797	ENSP00000445753	2259 (aa)	XP_011533099	F5H1D6
ENST00000503265	POLE-205	1501	-	-	- (aa)	-	-
ENST00000537064	POLE-210	8011	-	ENSP00000442578	310 (aa)	-	F5H7E4
ENST00000544414	POLE-219	575	-	-	- (aa)	-	-
ENST00000416953	POLE-202	542	-	-	- (aa)	-	-
ENST00000434528	POLE-203	808	-	-	- (aa)	-	-

Gene Model

Click here to download ENSG00000177084's gene model file

Pathways

Pathway ID	Pathway Name	Source
hsa03030	DNA replication	KEGG
hsa03410	Base excision repair	KEGG
hsa03420	Nucleotide excision repair	KEGG

Phenotypes

ensgID	Trait	pValue	Pubmed ID
ENSG00000177084	Child Development Disorders, Pervasive	1.8925000E-005	-
ENSG00000177084	Child Development Disorders, Pervasive	3.5565000E-005	-
ENSG00000177084	Uric Acid	4E-6	25811787
ENSG00000177084	Overweight	4E-6	25811787

GWAS

ensgID	SNP	Chromosome	Position	SNP-risk	Trait	PubmedID	95% CI	Or or BEAT	EFO ID
ENSG00000177084	rs5744897	12	132650245	C	Urate levels in overweight individuals	25811787	[0.05-0.124] kg/m2 increase	0.087	EFO_0004531\|EFO_0005935

Protein-Protein Interaction (PPI)

Clik here to download ENSG00000177084's network

* RBP PPI network refers to all genes directly bind to RBP

Orthologs identified by RBPome

Ensembl ID	Gene Symbol	Coverage	Identiy	Ortholog	Gene Symbol	Coverage	Identiy	Species
ENSG00000177084	POLE	91	43.192	YNL262W	POL2	93	43.192	Saccharomyces_cerevisiae

Gene Ontology

Go ID	Go_term	PubmedID	Evidence	Category
GO:0000082	G1/S transition of mitotic cell cycle	16762037.	IMP	Process
GO:0000082	G1/S transition of mitotic cell cycle	-	TAS	Process
GO:0000166	nucleotide binding	-	IEA	Function
GO:0000278	mitotic cell cycle	21873635.	IBA	Process
GO:0000731	DNA synthesis involved in DNA repair	1730053.	IMP	Process
GO:0003677	DNA binding	21873635.	IBA	Function
GO:0003677	DNA binding	16762037.	IDA	Function
GO:0003682	chromatin binding	16762037.	IDA	Function
GO:0003887	DNA-directed DNA polymerase activity	21873635.	IBA	Function
GO:0003887	DNA-directed DNA polymerase activity	16762037.	IMP	Function
GO:0005515	protein binding	10801849.	IPI	Function
GO:0005634	nucleus	16762037.	IDA	Component
GO:0005654	nucleoplasm	-	IDA	Component
GO:0005654	nucleoplasm	-	TAS	Component
GO:0005886	plasma membrane	-	IDA	Component
GO:0006260	DNA replication	16762037.	IMP	Process
GO:0006270	DNA replication initiation	-	TAS	Process
GO:0006272	leading strand elongation	21873635.	IBA	Process
GO:0006287	base-excision repair, gap-filling	21873635.	IBA	Process
GO:0006287	base-excision repair, gap-filling	10559260.	IDA	Process
GO:0006297	nucleotide-excision repair, DNA gap filling	21873635.	IBA	Process
GO:0006297	nucleotide-excision repair, DNA gap filling	20227374.	IMP	Process
GO:0008270	zinc ion binding	-	IEA	Function
GO:0008310	single-stranded DNA 3'-5' exodeoxyribonuclease activity	21873635.	IBA	Function
GO:0008622	epsilon DNA polymerase complex	21873635.	IBA	Component
GO:0008622	epsilon DNA polymerase complex	10801849.	IDA	Component
GO:0032201	telomere maintenance via semi-conservative replication	-	TAS	Process
GO:0045004	DNA replication proofreading	21873635.	IBA	Process
GO:0048568	embryonic organ development	-	IEA	Process
GO:0051539	4 iron, 4 sulfur cluster binding	-	IEA	Function
GO:0090305	nucleic acid phosphodiester bond hydrolysis	-	IEA	Process

EuRBPDB

Note: to get the extension of tumor abbreviations.

Select Dataset :

Input Drug :

Input Cell Line :

Eesembl ID

Cell lines and drugs in GSE70138 or GSE92742

Description

RBPome

Expression

Transcripts

Gene Model

Pathways

Phenotypes

GWAS

PPI

Orthologs

Gene Ontology

Note: Click here to get the extension of tumor abbreviations.

Select Dataset :

Input Drug :

Input Cell Line :

Eesembl ID

Cell lines and drugs in GSE70138 or GSE92742

Note: to get the extension of tumor abbreviations.