dbEM
A Database of Epigenetic Modifiers
Cite: Nanda JS, Kumar R, Raghava GP. (2016) dbEM: A database of epigenetic modifiers curated from cancerous and normal genomes. Sci Rep. 6:19340.
Protein: EP300 |
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Mutation Data (+)
# Cell Line/Tumor sample Tissue of Origin cDNA change Protein change Source FATHMM Prediction PolyPhen2 Prediction 1 22RV1 PROSTATE c.6964_6964delC p.P2322fs CCLE NP NP 2 639V URINARY TRACT c.2405C>T p.P802L CCLE PASSENGER/OTHER Probably Damaging 3 639V URINARY TRACT c.3163C>T p.R1055* CCLE NP NP 4 639V URINARY TRACT c.4933C>T p.R1645* CCLE NP NP 5 647V URINARY TRACT c.2977C>T p.Q993* CCLE NP NP 6 A375 SKIN c.2132_splice p.G711_splice CCLE NP NP 7 ACCMESO1 PLEURA c.1666A>G p.M556V CCLE PASSENGER/OTHER Possibly Damaging 8 ACCS URINARY TRACT c.3602G>A p.C1201Y CCLE CANCER Probably Damaging 9 AGS STOMACH c.1049A>G p.K350R CCLE PASSENGER/OTHER Probably Damaging 10 AGS STOMACH c.1927G>T p.E643* CCLE NP NP 11 AGS STOMACH c.3073G>T p.E1025* CCLE NP NP 12 BXPC3 PANCREAS c.1189C>T p.R397* CCLE NP NP 13 CAL62 THYROID c.4454_4454delA p.D1485fs CCLE NP NP 14 CAMA1 BREAST c.4187C>G p.S1396C CCLE CANCER Probably Damaging 15 COLO684 ENDOMETRIUM c.4402_4402delA p.K1468fs CCLE NP NP 16 COLO684 ENDOMETRIUM c.965G>T p.G322V CCLE PASSENGER/OTHER Probably Damaging 17 COLO704 OVARY c.4402_4402delA p.K1468fs CCLE NP NP 18 COLO704 OVARY c.965G>T p.G322V CCLE PASSENGER/OTHER Probably Damaging 19 COLO792 SKIN c.5564C>T p.P1855L CCLE PASSENGER/OTHER Benign 20 CW2 LARGE INTESTINE c.5318G>A p.R1773Q CCLE PASSENGER/OTHER Probably Damaging 21 CW2 LARGE INTESTINE c.6475G>T p.G2159* CCLE NP NP 22 DND41 HAEMATOPOIETIC AND LYMPHOID TISSUE c.3803C>T p.A1268V CCLE PASSENGER/OTHER Benign 23 DND41 HAEMATOPOIETIC AND LYMPHOID TISSUE c.835G>A p.V279I CCLE PASSENGER/OTHER Possibly Damaging 24 DND41 HAEMATOPOIETIC AND LYMPHOID TISSUE c.841T>A p.S281T CCLE PASSENGER/OTHER Possibly Damaging 25 EFO27 OVARY c.1783C>T p.P595S CCLE PASSENGER/OTHER Probably Damaging 26 ESS1 ENDOMETRIUM c.4751T>G p.L1584R CCLE CANCER Probably Damaging 27 GMS10 CENTRAL NERVOUS SYSTEM c.6626_6637delACCAGTTCCAGC p.2209_2213NQFQQ>K CCLE NP NP 28 GP2D LARGE INTESTINE c.1268A>C p.K423T CCLE PASSENGER/OTHER Probably Damaging 29 GP2D LARGE INTESTINE c.4981C>T p.Q1661* CCLE NP NP 30 HCC15 LUNG c.4401_4402insA p.Y1467fs CCLE NP NP 31 HCC2218 BREAST c.2662C>T p.P888S CCLE PASSENGER/OTHER Possibly Damaging 32 HCC44 LUNG c.6012G>T p.Q2004H CCLE PASSENGER/OTHER Probably Damaging 33 HCT116 LARGE INTESTINE c.4402_4402delA p.K1468fs CCLE NP NP 34 HCT15 LARGE INTESTINE c.3040G>T p.E1014* CCLE NP NP 35 HDLM2 HAEMATOPOIETIC AND LYMPHOID TISSUE c.495G>A p.M165I CCLE PASSENGER/OTHER Benign 36 HDMYZ HAEMATOPOIETIC AND LYMPHOID TISSUE c.4517G>T p.G1506V CCLE CANCER Probably Damaging 37 HEC108 ENDOMETRIUM c.3245A>G p.Q1082R CCLE PASSENGER/OTHER Possibly Damaging 38 HEC108 ENDOMETRIUM c.5693A>G p.Q1898R CCLE PASSENGER/OTHER Benign 39 HEC108 ENDOMETRIUM c.923C>T p.P308L CCLE PASSENGER/OTHER Possibly Damaging 40 HEC151 ENDOMETRIUM c.256C>T p.R86* CCLE NP NP 41 HEC151 ENDOMETRIUM c.5848A>G p.R1950G CCLE PASSENGER/OTHER Possibly Damaging 42 HEC1A ENDOMETRIUM c.4195G>A p.D1399N CCLE CANCER Probably Damaging 43 HEC251 ENDOMETRIUM c.6187T>C p.S2063P CCLE PASSENGER/OTHER Probably Damaging 44 HEC265 ENDOMETRIUM c.4399T>C p.Y1467H CCLE CANCER Probably Damaging 45 HEC59 ENDOMETRIUM c.4433G>A p.R1478H CCLE PASSENGER/OTHER Probably Damaging 46 HEC59 ENDOMETRIUM c.5162C>T p.A1721V CCLE PASSENGER/OTHER Possibly Damaging 47 HGC27 STOMACH c.5597C>T p.P1866L CCLE PASSENGER/OTHER Possibly Damaging 48 HPBALL HAEMATOPOIETIC AND LYMPHOID TISSUE c.5317C>T p.R1773W CCLE PASSENGER/OTHER Benign 49 HRT18 LARGE INTESTINE c.3040G>T p.E1014* CCLE NP NP 50 HS821T BONE c.465C>G p.N155K CCLE PASSENGER/OTHER Possibly Damaging 51 HS834T SKIN c.1335_1337delGGG p.G446del CCLE NP NP 52 HTK HAEMATOPOIETIC AND LYMPHOID TISSUE c.6775G>A p.A2259T CCLE PASSENGER/OTHER Benign 53 HT HAEMATOPOIETIC AND LYMPHOID TISSUE c.4636_4636delA p.K1546fs CCLE NP NP 54 IM95 STOMACH c.2567_2569delCAA p.T858del CCLE NP NP 55 ISHIKAWAHERAKLIO02ER ENDOMETRIUM c.6964_6964delC p.P2322fs CCLE NP NP 56 JHH5 LIVER c.4195G>A p.D1399N CCLE CANCER Probably Damaging 57 JHUEM1 ENDOMETRIUM c.1189C>T p.R397* CCLE NP NP 58 JHUEM7 ENDOMETRIUM c.3366G>T p.W1122C CCLE PASSENGER/OTHER Probably Damaging 59 JHUEM7 ENDOMETRIUM c.5441G>A p.R1814Q CCLE PASSENGER/OTHER Probably Damaging 60 JK1 HAEMATOPOIETIC AND LYMPHOID TISSUE c.880G>A p.V294I CCLE PASSENGER/OTHER Possibly Damaging 61 K029AX SKIN c.2914C>G p.P972A CCLE PASSENGER/OTHER Possibly Damaging 62 KARPAS620 HAEMATOPOIETIC AND LYMPHOID TISSUE c.1540A>G p.M514V CCLE PASSENGER/OTHER Possibly Damaging 63 KM12 LARGE INTESTINE c.2282A>G p.Q761R CCLE PASSENGER/OTHER Probably Damaging 64 KM12 LARGE INTESTINE c.4355C>T p.P1452L CCLE CANCER Possibly Damaging 65 KMS28BM HAEMATOPOIETIC AND LYMPHOID TISSUE c.4949C>T p.S1650F CCLE CANCER Probably Damaging 66 KU1919 URINARY TRACT c.5261C>A p.S1754* CCLE NP NP 67 KYSE510 OESOPHAGUS c.3240_3241CC>TT p.P1081S CCLE PASSENGER/OTHER Probably Damaging 68 L33 PANCREAS c.3671_splice p.T1224_splice CCLE NP NP 69 LN18 CENTRAL NERVOUS SYSTEM c.4336T>A p.Y1446N CCLE CANCER Probably Damaging 70 LNCAPCLONEFGC PROSTATE c.5332G>T p.G1778W CCLE PASSENGER/OTHER Probably Damaging 71 LOUNH91 LUNG c.1426C>T p.Q476* CCLE NP NP 72 LS180 LARGE INTESTINE c.89G>T p.G30V CCLE PASSENGER/OTHER Possibly Damaging 73 LU99 LUNG c.2897_2897delC p.A966fs CCLE NP NP 74 MFE296 ENDOMETRIUM c.4994G>A p.R1665H CCLE PASSENGER/OTHER Probably Damaging 75 MFE319 ENDOMETRIUM c.4981C>T p.Q1661* CCLE NP NP 76 MFE319 ENDOMETRIUM c.5705C>T p.A1902V CCLE PASSENGER/OTHER Benign 77 MFE319 ENDOMETRIUM c.6013C>T p.Q2005* CCLE NP NP 78 MKN74 STOMACH c.906_splice p.M302_splice CCLE NP NP 79 MORCPR LUNG c.5173C>T p.Q1725* CCLE NP NP 80 NALM6 HAEMATOPOIETIC AND LYMPHOID TISSUE c.2182C>T p.R728W CCLE PASSENGER/OTHER Probably Damaging 81 NB4 HAEMATOPOIETIC AND LYMPHOID TISSUE c.7177C>G p.L2393V CCLE PASSENGER/OTHER Possibly Damaging 82 NCIH1339 LUNG c.1991T>G p.M664R CCLE PASSENGER/OTHER Probably Damaging 83 NCIH1339 LUNG c.4385_4389delGACTG p.R1462fs CCLE NP NP 84 NCIH1618 LUNG c.4240T>G p.Y1414D CCLE CANCER Probably Damaging 85 NCIH1648 LUNG c.2059C>T p.P687S CCLE PASSENGER/OTHER Probably Damaging 86 NCIH1703 LUNG c.4310C>T p.A1437V CCLE CANCER Possibly Damaging 87 NCIH1836 LUNG c.4186T>C p.S1396P CCLE CANCER Probably Damaging 88 NCIH1876 LUNG c.4453_splice p.D1485_splice CCLE NP NP 89 NCIH2170 LUNG c.3857A>G p.N1286S CCLE PASSENGER/OTHER Probably Damaging 90 NCIH2196 LUNG c.6289C>G p.P2097A CCLE PASSENGER/OTHER Benign 91 NCIH2228 LUNG c.6751G>A p.A2251T CCLE PASSENGER/OTHER Benign 92 NCIH2347 LUNG c.13G>T p.V5L CCLE PASSENGER/OTHER Possibly Damaging 93 NCIH524 LUNG c.2077A>G p.M693V CCLE PASSENGER/OTHER Benign 94 NCIH524 LUNG c.4508A>C p.Y1503S CCLE CANCER Probably Damaging 95 NCIH854 LUNG c.2872A>G p.S958G CCLE PASSENGER/OTHER Benign 96 NUGC3 STOMACH c.3701_3702insA p.R1234fs CCLE NP NP 97 OC316 OVARY c.6963_6964insC p.Q2321fs CCLE NP NP 98 OCILY10 HAEMATOPOIETIC AND LYMPHOID TISSUE c.478C>T p.Q160* CCLE NP NP 99 OVCAR4 OVARY c.2995G>C p.E999Q CCLE PASSENGER/OTHER Possibly Damaging 100 OVCAR8 OVARY c.5187_5187delT p.D1729fs CCLE NP NP 101 PATU8902 PANCREAS c.4949C>A p.S1650Y CCLE CANCER Probably Damaging 102 RCM1 LARGE INTESTINE c.5218C>T p.Q1740* CCLE NP NP 103 RKO LARGE INTESTINE c.4402_4402delA p.K1468fs CCLE NP NP 104 RKO LARGE INTESTINE c.871_871delA p.K291fs CCLE NP NP 105 RL952 ENDOMETRIUM c.1405G>A p.A469T CCLE PASSENGER/OTHER Probably Damaging 106 RL952 ENDOMETRIUM c.6923G>A p.R2308H CCLE CANCER Probably Damaging 107 RL952 ENDOMETRIUM c.6963_6964insC p.Q2321fs CCLE NP NP 108 RL HAEMATOPOIETIC AND LYMPHOID TISSUE c.3031G>T p.E1011* CCLE NP NP 109 RL HAEMATOPOIETIC AND LYMPHOID TISSUE c.4244A>C p.H1415P CCLE CANCER Possibly Damaging 110 SJSA1 BONE c.2671A>C p.T891P CCLE PASSENGER/OTHER Benign 111 SKCO1 LARGE INTESTINE c.2523_2524CC>TT p.P842S CCLE PASSENGER/OTHER Probably Damaging 112 SKNDZ AUTONOMIC GANGLIA c.2647A>G p.R883G CCLE PASSENGER/OTHER Benign 113 SKOV3 OVARY c.4241A>G p.Y1414C CCLE CANCER Probably Damaging 114 SNU1040 LARGE INTESTINE c.4402_4402delA p.K1468fs CCLE NP NP 115 SNU1040 LARGE INTESTINE c.4795C>T p.R1599C CCLE PASSENGER/OTHER Probably Damaging 116 SNU1040 LARGE INTESTINE c.7060G>A p.A2354T CCLE PASSENGER/OTHER Benign 117 SNU1077 ENDOMETRIUM c.1777C>T p.P593S CCLE CANCER Probably Damaging 118 SNU407 LARGE INTESTINE c.542G>T p.G181V CCLE PASSENGER/OTHER Probably Damaging 119 SNU520 STOMACH c.1136T>C p.M379T CCLE CANCER Probably Damaging 120 SNU601 STOMACH c.4468G>C p.A1490P CCLE PASSENGER/OTHER Probably Damaging 121 SNU719 STOMACH c.206G>T p.G69V CCLE PASSENGER/OTHER Probably Damaging 122 SNU761 LIVER c.1766A>G p.Q589R CCLE PASSENGER/OTHER Probably Damaging 123 SNU81 LARGE INTESTINE c.1927G>T p.E643* CCLE NP NP 124 SNU81 LARGE INTESTINE c.3685G>T p.E1229* CCLE NP NP 125 SNU81 LARGE INTESTINE c.3701G>T p.R1234I CCLE PASSENGER/OTHER Probably Damaging 126 SNUC5 LARGE INTESTINE c.3284_3285insC p.S1095fs CCLE NP NP 127 SNUC5 LARGE INTESTINE c.4313G>A p.C1438Y CCLE CANCER Probably Damaging 128 SUDHL10 HAEMATOPOIETIC AND LYMPHOID TISSUE c.1244T>C p.L415P CCLE PASSENGER/OTHER Probably Damaging 129 SUDHL10 HAEMATOPOIETIC AND LYMPHOID TISSUE c.4172_splice p.R1391_splice CCLE NP NP 130 SUDHL6 HAEMATOPOIETIC AND LYMPHOID TISSUE c.4879C>T p.R1627W CCLE CANCER Probably Damaging 131 SUDHL8 HAEMATOPOIETIC AND LYMPHOID TISSUE c.7100C>T p.P2367L CCLE PASSENGER/OTHER Probably Damaging 132 SUPHD1 HAEMATOPOIETIC AND LYMPHOID TISSUE c.7073C>T p.P2358L CCLE PASSENGER/OTHER Benign 133 SUPM2 HAEMATOPOIETIC AND LYMPHOID TISSUE c.5711A>C p.Q1904P CCLE PASSENGER/OTHER Probably Damaging 134 SW48 LARGE INTESTINE c.1781C>T p.T594M CCLE PASSENGER/OTHER Probably Damaging 135 SW48 LARGE INTESTINE c.4402_4402delA p.K1468fs CCLE NP NP 136 SW620 LARGE INTESTINE c.4319C>T p.P1440L CCLE CANCER Probably Damaging 137 SW948 LARGE INTESTINE c.5061_splice p.E1687_splice CCLE NP NP 138 T3M4 PANCREAS c.3671_splice p.T1224_splice CCLE NP NP 139 TCCPAN2 PANCREAS c.4287_splice p.G1429_splice CCLE NP NP 140 TE10 OESOPHAGUS c.4527G>T p.W1509C CCLE CANCER Probably Damaging 141 TE14 OESOPHAGUS c.4154G>A p.C1385Y CCLE PASSENGER/OTHER Probably Damaging 142 TE14 OESOPHAGUS c.986C>G p.T329R CCLE PASSENGER/OTHER Probably Damaging 143 TE5 OESOPHAGUS c.6916C>G p.Q2306E CCLE PASSENGER/OTHER Possibly Damaging 144 TOLEDO HAEMATOPOIETIC AND LYMPHOID TISSUE c.4558C>G p.L1520V CCLE CANCER Probably Damaging 145 VMCUB1 URINARY TRACT c.5620C>G p.Q1874E CCLE PASSENGER/OTHER Possibly Damaging 146 VMCUB1 URINARY TRACT c.6067C>T p.Q2023* CCLE NP NP 147 YAPC PANCREAS c.4287_splice p.G1429_splice CCLE NP NP 148 YD15 SALIVARY GLAND c.2437C>T p.Q813* CCLE NP NP 149 06-24881 HAEMATOPOIETIC AND LYMPHOID TISSUE c.4492G>A p.A1498T COSMIC PASSENGER/OTHER Probably Damaging 150 090 HAEMATOPOIETIC AND LYMPHOID TISSUE c.5368T>G p.C1790G COSMIC PASSENGER/OTHER Probably Damaging 151 090-02-1TD HAEMATOPOIETIC AND LYMPHOID TISSUE c.5368T>G p.C1790G COSMIC PASSENGER/OTHER Probably Damaging 152 100912 LUNG c.1839G>C p.R613R COSMIC NP NP 153 107542 BREAST c.1936G>C p.E646Q COSMIC PASSENGER/OTHER Probably Damaging 154 13D HAEMATOPOIETIC AND LYMPHOID TISSUE c.4874A>T p.D1625V COSMIC CANCER Probably Damaging 155 1523819 HAEMATOPOIETIC AND LYMPHOID TISSUE c.1519A>G p.S507G COSMIC PASSENGER/OTHER Benign 156 1523835 BREAST c.5095delA p.N1700fs*9 COSMIC NP NP 157 1645947 HAEMATOPOIETIC AND LYMPHOID TISSUE c.5030_5036delTGGAGAC p.V1677fs*30 COSMIC NP NP 158 1685503 HAEMATOPOIETIC AND LYMPHOID TISSUE c.3442_3447delGTCTTT p.V1148_F1149delVF COSMIC NP NP 159 1685504 HAEMATOPOIETIC AND LYMPHOID TISSUE c.3442_3447delGTCTTT p.V1148_F1149delVF COSMIC NP NP 160 18D HAEMATOPOIETIC AND LYMPHOID TISSUE c.6584A>G p.Q2195R COSMIC PASSENGER/OTHER Possibly Damaging 161 1938969 SALIVARY GLAND c.1019A>T p.Q340L COSMIC CANCER Probably Damaging 162 1964029 STOMACH c.4408delA p.M1470fs*26 COSMIC NP NP 163 1964030 STOMACH c.4408delA p.M1470fs*26 COSMIC NP NP 164 1964031 STOMACH c.6970_6971insC p.H2324fs*55 COSMIC NP NP 165 1964120 LARGE INTESTINE c.4408delA p.M1470fs*26 COSMIC NP NP 166 1964121 LARGE INTESTINE c.4408delA p.M1470fs*26 COSMIC NP NP 167 1964122 LARGE INTESTINE c.6970_6971insC p.H2324fs*55 COSMIC NP NP 168 1964123 LARGE INTESTINE c.6970_6971insC p.H2324fs*55 COSMIC NP NP 169 2025 HAEMATOPOIETIC AND LYMPHOID TISSUE c.2773C>A p.P925T COSMIC PASSENGER/OTHER Benign 170 2041 HAEMATOPOIETIC AND LYMPHOID TISSUE c.5711A>C p.Q1904P COSMIC PASSENGER/OTHER Probably Damaging 171 2135 HAEMATOPOIETIC AND LYMPHOID TISSUE c.6574_6585del12 p.Q2192_Q2195delQQQQ COSMIC NP NP 172 2141 HAEMATOPOIETIC AND LYMPHOID TISSUE c.1768G>C p.A590P COSMIC CANCER Probably Damaging 173 2161 HAEMATOPOIETIC AND LYMPHOID TISSUE c.1519A>G p.S507G COSMIC PASSENGER/OTHER Benign 174 2180 HAEMATOPOIETIC AND LYMPHOID TISSUE c.376A>G p.M126V COSMIC PASSENGER/OTHER Benign 175 2334188 LUNG c.4154G>T p.C1385F COSMIC PASSENGER/OTHER Probably Damaging 176 2334191 LUNG c.4114T>C p.C1372R COSMIC CANCER Benign 177 2334195 LUNG c.4364A>G p.Q1455R COSMIC CANCER Probably Damaging 178 585210 LUNG c.5189C>T p.S1730F COSMIC PASSENGER/OTHER Probably Damaging 179 587220 LARGE INTESTINE c.2921A>G p.Q974R COSMIC PASSENGER/OTHER Benign 180 587224 LARGE INTESTINE c.1651C>T p.P551S COSMIC PASSENGER/OTHER Benign 181 587228 LARGE INTESTINE c.4397G>T p.W1466L COSMIC CANCER Benign 182 587234 LARGE INTESTINE c.6645A>C p.Q2215H COSMIC PASSENGER/OTHER Possibly Damaging 183 587238 LARGE INTESTINE c.5956C>G p.P1986A COSMIC PASSENGER/OTHER Benign 184 587256 LARGE INTESTINE c.5585A>C p.Q1862P COSMIC PASSENGER/OTHER Probably Damaging 185 587278 LARGE INTESTINE c.5807C>T p.A1936V COSMIC PASSENGER/OTHER Probably Damaging 186 587286 LARGE INTESTINE c.1190G>A p.R397Q COSMIC CANCER Probably Damaging 187 587316 LARGE INTESTINE c.1811G>A p.R604Q COSMIC CANCER Probably Damaging 188 587332 LARGE INTESTINE c.3548G>A p.C1183Y COSMIC PASSENGER/OTHER Probably Damaging 189 587332 LARGE INTESTINE c.6892C>T p.Q2298* COSMIC NP NP 190 9T SKIN c.4933C>A p.R1645R COSMIC NP NP 191 B10 URINARY TRACT c.2620C>T p.Q874* COSMIC NP NP 192 B106 URINARY TRACT c.4454A>T p.D1485V COSMIC CANCER Probably Damaging 193 B66 URINARY TRACT c.4372_4377delCCCAAG p.P1460_K1461delPK COSMIC NP NP 194 B78 URINARY TRACT c.2470C>T p.Q824* COSMIC NP NP 195 B80-13 URINARY TRACT c.4662G>C p.K1554N COSMIC CANCER Probably Damaging 196 B80-4 URINARY TRACT c.6883C>A p.Q2295K COSMIC PASSENGER/OTHER Benign 197 B80-8 URINARY TRACT c.193C>T p.Q65* COSMIC NP NP 198 B86 URINARY TRACT c.4879C>T p.R1627W COSMIC CANCER Probably Damaging 199 B87 URINARY TRACT c.4239_4240insT p.Y1414fs*3 COSMIC NP NP 200 B89-10 URINARY TRACT c.4377_4388del12 p.P1460_L1463delPKRL COSMIC NP NP 201 B89-4 URINARY TRACT c.4352A>T p.H1451L COSMIC CANCER Probably Damaging 202 B90 URINARY TRACT c.4561G>C p.E1521Q COSMIC PASSENGER/OTHER Possibly Damaging 203 B96 URINARY TRACT c.644_654del11 p.G216fs*2 COSMIC NP NP 204 BrCa8 BREAST c.(4025)ins18 p.(1409)ins6 COSMIC NP NP 205 CHC1055T LIVER c.1169T>G p.V390G COSMIC PASSENGER/OTHER Probably Damaging 206 CLL033 HAEMATOPOIETIC AND LYMPHOID TISSUE c.2840T>C p.I947T COSMIC PASSENGER/OTHER Benign 207 CoCa18 LARGE INTESTINE c.6662C>A p.P2221Q COSMIC PASSENGER/OTHER Benign 208 CoCa6 LARGE INTESTINE c.1738C>T p.R580* COSMIC NP NP 209 DB HAEMATOPOIETIC AND LYMPHOID TISSUE c.4517G>T p.G1506V COSMIC CANCER Probably Damaging 210 DLBCL-PatientD HAEMATOPOIETIC AND LYMPHOID TISSUE c.1244T>C p.L415P COSMIC PASSENGER/OTHER Probably Damaging 211 DLBCL-PatientG HAEMATOPOIETIC AND LYMPHOID TISSUE c.4399T>C p.Y1467H COSMIC CANCER Probably Damaging 212 E114 ENDOMETRIUM c.2983G>T p.E995* COSMIC NP NP 213 ESO-143 OESOPHAGUS c.1636G>A p.E546K COSMIC PASSENGER/OTHER Probably Damaging 214 ESO-184 OESOPHAGUS c.4607A>G p.E1536G COSMIC PASSENGER/OTHER Probably Damaging 215 ESO-717 OESOPHAGUS c.1738C>T p.R580* COSMIC NP NP 216 ESO-859 OESOPHAGUS c.5587C>T p.P1863S COSMIC PASSENGER/OTHER Probably Damaging 217 FARAGE HAEMATOPOIETIC AND LYMPHOID TISSUE c.4408delA p.M1470fs*26 COSMIC NP NP 218 FL007 HAEMATOPOIETIC AND LYMPHOID TISSUE c.4399T>A p.Y1467N COSMIC CANCER Probably Damaging 219 FL1 HAEMATOPOIETIC AND LYMPHOID TISSUE c.4189T>C p.Y1397H COSMIC CANCER Probably Damaging 220 FL14 HAEMATOPOIETIC AND LYMPHOID TISSUE c.6523A>C p.M2175L COSMIC PASSENGER/OTHER Benign 221 H1703 LUNG c.4310C>T p.A1437V COSMIC CANCER Possibly Damaging 222 H1836 LUNG c.4186T>C p.S1396P COSMIC CANCER Probably Damaging 223 H524 LUNG c.3270T>A p.F1090L COSMIC PASSENGER/OTHER Probably Damaging 224 H524 LUNG c.4508A>C p.Y1503S COSMIC CANCER Probably Damaging 225 H748 LUNG c.3996C>T p.T1332T COSMIC NP NP 226 HCC105T LIVER c.3117G>A p.P1039P COSMIC NP NP 227 HCC2998 LARGE INTESTINE c.1393G>T p.E465* COSMIC NP NP 228 HCC2998 LARGE INTESTINE c.4751T>G p.L1584R COSMIC CANCER Probably Damaging 229 HCT-116 LARGE INTESTINE c.5095delA p.N1700fs*9 COSMIC NP NP 230 HCT-116 LARGE INTESTINE c.5099delA p.N1700fs*9 COSMIC NP NP 231 HCT-15 LARGE INTESTINE c.3040G>T p.E1014* COSMIC NP NP 232 HCT116 LARGE INTESTINE c.4401_4402insA p.M1470fs*3 COSMIC NP NP 233 HCT116 LARGE INTESTINE c.5095delA p.N1700fs*9 COSMIC NP NP 234 HN14PT UPPER AERODIGESTIVE TRACT c.4154G>T p.C1385F COSMIC PASSENGER/OTHER Probably Damaging 235 HN_00361 UPPER AERODIGESTIVE TRACT c.924G>A p.P308P COSMIC NP NP 236 HN_62652 UPPER AERODIGESTIVE TRACT c.4154G>T p.C1385F COSMIC PASSENGER/OTHER Probably Damaging 237 HN_62672 UPPER AERODIGESTIVE TRACT c.4195G>A p.D1399N COSMIC CANCER Probably Damaging 238 HN_63021 UPPER AERODIGESTIVE TRACT c.1881G>A p.A627A COSMIC NP NP 239 HT-29 LARGE INTESTINE c.4401_4402insA p.M1470fs*3 COSMIC NP NP 240 ID32 HAEMATOPOIETIC AND LYMPHOID TISSUE c.5056_5057delTG p.C1686fs*1 COSMIC NP NP 241 KM12 LARGE INTESTINE c.2282A>G p.Q761R COSMIC PASSENGER/OTHER Probably Damaging 242 KM12 LARGE INTESTINE c.4355C>T p.P1452L COSMIC CANCER Possibly Damaging 243 LB647-SCLC LUNG c.5850G>T p.R1950S COSMIC PASSENGER/OTHER Possibly Damaging 244 LB771-HNC UPPER AERODIGESTIVE TRACT c.4355C>T p.P1452L COSMIC CANCER Possibly Damaging 245 LC_S42 LUNG c.4955T>C p.M1652T COSMIC CANCER Benign 246 LIM-2405 LARGE INTESTINE c.2779_2780insC p.T928fs*21 COSMIC NP NP 247 LIM-2405 LARGE INTESTINE c.4401_4402insA p.M1470fs*3 COSMIC NP NP 248 LIM-2412 LARGE INTESTINE c.256C>T p.R86* COSMIC NP NP 249 LUAD-CHTN-MAD06-00668 LUNG c.2707G>T p.A903S COSMIC PASSENGER/OTHER Benign 250 LUAD-CHTN-MAD06-00668 LUNG c.3124G>A p.G1042R COSMIC PASSENGER/OTHER Benign 251 LUAD-D02085 LUNG c.4880G>A p.R1627Q COSMIC CANCER Benign 252 LUAD-RT-S01831 LUNG c.1335_1336GG>TT p.G446C COSMIC PASSENGER/OTHER Probably Damaging 253 LUAD-YINHD LUNG c.4391A>T p.Q1464L COSMIC PASSENGER/OTHER Benign 254 LUAD_E00565 LUNG c.3900C>T p.T1300T COSMIC NP NP 255 MATU BREAST c.3591_3728del138 p.Y1198_L1243del COSMIC NP NP 256 MBRep_T3 NS c.6633C>A p.F2211L COSMIC PASSENGER/OTHER Possibly Damaging 257 MCF7 BREAST c.4066C>T p.R1356* COSMIC NP NP 258 MD-286 CENTRAL NERVOUS SYSTEM c.4400A>G p.Y1467C COSMIC CANCER Probably Damaging 259 MD-326 CENTRAL NERVOUS SYSTEM c.4195G>A p.D1399N COSMIC CANCER Probably Damaging 260 MDA-MB-435S BREAST c.2480T>C p.L827P COSMIC PASSENGER/OTHER Benign 261 MDA-MB-435S BREAST c.3038A>G p.E1013G COSMIC PASSENGER/OTHER Possibly Damaging 262 ME009T SKIN c.1927G>A p.E643K COSMIC CANCER Probably Damaging 263 ME011T SKIN c.4925C>T p.S1642F COSMIC CANCER Probably Damaging 264 MN-298 MENINGES c.2777delC p.P927fs*19 COSMIC NP NP 265 NB-1744 AUTONOMIC GANGLIA c.2743C>T p.R915C COSMIC PASSENGER/OTHER Benign 266 NB2198T AUTONOMIC GANGLIA c.2692C>T p.Q898* COSMIC NP NP 267 NCI-ADR-RES OVARY c.5188delT p.S1730fs*4 COSMIC NP NP 268 OVACAR8 OVARY c.5188delT p.S1730fs*4 COSMIC NP NP 269 OVCAR-5 OVARY c.5346C>A p.C1782* COSMIC NP NP 270 OVCAR-8 OVARY c.5188delT p.S1730fs*4 COSMIC NP NP 271 P04-2666 PROSTATE c.6802C>A p.Q2268K COSMIC PASSENGER/OTHER Possibly Damaging 272 PA285 PANCREAS c.2546T>C p.I849T COSMIC PASSENGER/OTHER Benign 273 PD3185a NS c.4880delG p.D1628fs*81 COSMIC NP NP 274 PD3192a SALIVARY GLAND c.3742_3743delAC p.T1248fs*15 COSMIC NP NP 275 PD4116a BREAST c.2957A>T p.Q986L COSMIC PASSENGER/OTHER Benign 276 PD4127a BREAST c.2090G>A p.S697N COSMIC PASSENGER/OTHER Benign 277 PD4200a NS c.1854C>G p.D618E COSMIC PASSENGER/OTHER Probably Damaging 278 PLK106Ca LARGE INTESTINE c.5038C>T p.R1680C COSMIC PASSENGER/OTHER Probably Damaging 279 PLK848Ca STOMACH c.4195G>T p.D1399Y COSMIC CANCER Probably Damaging 280 Pa16C PANCREAS c.4461_4462insT p.K1488fs*1 COSMIC NP NP 281 Patu8902t PANCREAS c.4949C>A p.S1650Y COSMIC CANCER Probably Damaging 282 Patu8988t PANCREAS c.3143_3590del448 p.I1048fs*30 COSMIC NP NP 283 RK126_C01 LIVER c.3391T>A p.Y1131N COSMIC PASSENGER/OTHER Probably Damaging 284 RXF393 KIDNEY c.2405C>T p.P802L COSMIC PASSENGER/OTHER Probably Damaging 285 Ramos HAEMATOPOIETIC AND LYMPHOID TISSUE c.187C>T p.Q63* COSMIC NP NP 286 S00830 LUNG c.3857A>G p.N1286S COSMIC PASSENGER/OTHER Probably Damaging 287 S00833 LUNG c.4123G>C p.G1375R COSMIC CANCER Probably Damaging 288 S01524 LUNG c.3358G>T p.D1120Y COSMIC PASSENGER/OTHER Probably Damaging 289 SBC7 LUNG c.3410G>T p.R1137L COSMIC PASSENGER/OTHER Possibly Damaging 290 SBC7 LUNG c.4195G>T p.D1399Y COSMIC CANCER Probably Damaging 291 SJLGG009_D NS c.4066C>T p.R1356* COSMIC NP NP 292 SJTALL006 HAEMATOPOIETIC AND LYMPHOID TISSUE c.4916T>C p.L1639P COSMIC PASSENGER/OTHER Probably Damaging 293 SK-OV-3 OVARY c.4241A>G p.Y1414C COSMIC CANCER Probably Damaging 294 SNB75 CENTRAL NERVOUS SYSTEM c.5860_5861insTTG p.H1954>LD COSMIC NP NP 295 SUDHL10 HAEMATOPOIETIC AND LYMPHOID TISSUE c.4796G>A p.R1599H COSMIC PASSENGER/OTHER Probably Damaging 296 SUDHL2 HAEMATOPOIETIC AND LYMPHOID TISSUE c.2461C>T p.Q821* COSMIC NP NP 297 SUDHL6 HAEMATOPOIETIC AND LYMPHOID TISSUE c.4879C>T p.R1627W COSMIC CANCER Probably Damaging 298 SUDHL8 HAEMATOPOIETIC AND LYMPHOID TISSUE c.4636delA p.N1547fs*17 COSMIC NP NP 299 SUDHL8 HAEMATOPOIETIC AND LYMPHOID TISSUE c.4710A>T p.K1570N COSMIC PASSENGER/OTHER Probably Damaging 300 SW620 LARGE INTESTINE c.4319C>T p.P1440L COSMIC CANCER Probably Damaging 301 T56 ENDOMETRIUM c.5195G>A p.R1732H COSMIC PASSENGER/OTHER Probably Damaging 302 TCGA-02-0028-01 CENTRAL NERVOUS SYSTEM c.6427G>A p.A2143T COSMIC PASSENGER/OTHER Benign 303 TCGA-02-0028-01 CENTRAL NERVOUS SYSTEM c.6969C>G p.P2323P COSMIC NP NP 304 TCGA-02-0055-01 CENTRAL NERVOUS SYSTEM c.6951G>A p.R2317R COSMIC NP NP 305 TCGA-02-0114-01 CENTRAL NERVOUS SYSTEM c.4009C>T p.P1337S COSMIC PASSENGER/OTHER Probably Damaging 306 TCGA-06-0133-01 CENTRAL NERVOUS SYSTEM c.5638C>T p.P1880S COSMIC PASSENGER/OTHER Benign 307 TCGA-18-3409-01 LUNG c.4893C>T p.L1631L COSMIC NP NP 308 TCGA-18-3409-01 LUNG c.6489C>T p.P2163P COSMIC NP NP 309 TCGA-21-5786-01 LUNG c.4195G>A p.D1399N COSMIC CANCER Probably Damaging 310 TCGA-22-4595-01 LUNG c.6375C>A p.H2125Q COSMIC PASSENGER/OTHER Benign 311 TCGA-24-1471-01 OVARY c.3934C>T p.R1312* COSMIC NP NP 312 TCGA-36-2542-01 OVARY c.1906A>G p.K636E COSMIC CANCER Probably Damaging 313 TCGA-37-3783-01 LUNG c.4241A>G p.Y1414C COSMIC CANCER Probably Damaging 314 TCGA-37-3783-01 LUNG c.769T>G p.Y257D COSMIC PASSENGER/OTHER Probably Damaging 315 TCGA-55-6969-01 LUNG c.4513G>T p.E1505* COSMIC NP NP 316 TCGA-56-1622-01 LUNG c.4193T>C p.L1398P COSMIC CANCER Probably Damaging 317 TCGA-60-2713-01 LUNG c.5633C>A p.T1878N COSMIC PASSENGER/OTHER Benign 318 TCGA-66-2763-01 LUNG c.4195G>A p.D1399N COSMIC CANCER Probably Damaging 319 TCGA-66-2773-01 LUNG c.6367G>T p.G2123W COSMIC PASSENGER/OTHER Benign 320 TCGA-86-6851-01 LUNG c.39C>G p.A13A COSMIC NP NP 321 TCGA-91-6848-01 LUNG c.6783G>A p.Q2261Q COSMIC NP NP 322 TCGA-A3-3320-01 KIDNEY c.6226G>T p.A2076S COSMIC PASSENGER/OTHER Benign 323 TCGA-A5-A0GH-01 ENDOMETRIUM c.3560G>A p.R1187H COSMIC PASSENGER/OTHER Probably Damaging 324 TCGA-A5-A0GH-01 ENDOMETRIUM c.4048G>A p.A1350T COSMIC PASSENGER/OTHER Possibly Damaging 325 TCGA-A6-5659-01 LARGE INTESTINE c.188A>G p.Q63R COSMIC PASSENGER/OTHER Probably Damaging 326 TCGA-A6-6141-01 LARGE INTESTINE c.3831G>T p.K1277N COSMIC PASSENGER/OTHER Probably Damaging 327 TCGA-A6-6653-01 LARGE INTESTINE c.4880G>T p.R1627L COSMIC CANCER Possibly Damaging 328 TCGA-A6-6780-01 LARGE INTESTINE c.5485C>T p.R1829C COSMIC PASSENGER/OTHER Benign 329 TCGA-A6-6781-01 LARGE INTESTINE c.3038A>G p.E1013G COSMIC PASSENGER/OTHER Possibly Damaging 330 TCGA-A8-A075-01 BREAST c.5553T>C p.T1851T COSMIC NP NP 331 TCGA-A8-A0A7-01 BREAST c.2299C>T p.Q767* COSMIC NP NP 332 TCGA-AA-3527-01 LARGE INTESTINE c.1810C>G p.R604G COSMIC CANCER Probably Damaging 333 TCGA-AA-3554-01 LARGE INTESTINE c.197C>T p.T66I COSMIC PASSENGER/OTHER Probably Damaging 334 TCGA-AA-3555-01 LARGE INTESTINE c.1702C>T p.R568W COSMIC PASSENGER/OTHER Probably Damaging 335 TCGA-AA-3655-01 LARGE INTESTINE c.6662C>T p.P2221L COSMIC PASSENGER/OTHER Benign 336 TCGA-AA-3662-01 LARGE INTESTINE c.2462A>G p.Q821R COSMIC PASSENGER/OTHER Possibly Damaging 337 TCGA-AA-3697-01 LARGE INTESTINE c.4710A>G p.K1570K COSMIC NP NP 338 TCGA-AA-3710-01 LARGE INTESTINE c.1206C>T p.H402H COSMIC NP NP 339 TCGA-AA-3713-01 LARGE INTESTINE c.444G>A p.T148T COSMIC NP NP 340 TCGA-AA-3713-01 LARGE INTESTINE c.4710A>G p.K1570K COSMIC NP NP 341 TCGA-AA-3715-01 LARGE INTESTINE c.2512C>T p.R838C COSMIC PASSENGER/OTHER Probably Damaging 342 TCGA-AA-3864-01 LARGE INTESTINE c.4886C>T p.A1629V COSMIC PASSENGER/OTHER Probably Damaging 343 TCGA-AA-3869-01 LARGE INTESTINE c.6819T>G p.V2273V COSMIC NP NP 344 TCGA-AA-3877-01 LARGE INTESTINE c.3653A>G p.D1218G COSMIC PASSENGER/OTHER Probably Damaging 345 TCGA-AA-3984-01 LARGE INTESTINE c.579C>T p.N193N COSMIC NP NP 346 TCGA-AA-A00J-01 LARGE INTESTINE c.5875A>G p.M1959V COSMIC PASSENGER/OTHER Benign 347 TCGA-AA-A00N-01 LARGE INTESTINE c.1739G>A p.R580Q COSMIC CANCER Probably Damaging 348 TCGA-AA-A00R-01 LARGE INTESTINE c.4130A>G p.H1377R COSMIC PASSENGER/OTHER Probably Damaging 349 TCGA-AA-A010-01 LARGE INTESTINE c.251T>C p.L84S COSMIC PASSENGER/OTHER Probably Damaging 350 TCGA-AA-A010-01 LARGE INTESTINE c.3641C>A p.S1214Y COSMIC PASSENGER/OTHER Probably Damaging 351 TCGA-AA-A010-01 LARGE INTESTINE c.4879C>T p.R1627W COSMIC CANCER Probably Damaging 352 TCGA-AA-A01G-01 LARGE INTESTINE c.1145G>A p.C382Y COSMIC CANCER Probably Damaging 353 TCGA-AD-6889-01 LARGE INTESTINE c.3041A>G p.E1014G COSMIC PASSENGER/OTHER Possibly Damaging 354 TCGA-AD-6889-01 LARGE INTESTINE c.6772C>T p.Q2258* COSMIC NP NP 355 TCGA-AF-2687-01 LARGE INTESTINE c.5710C>T p.Q1904* COSMIC NP NP 356 TCGA-AG-3732-01 LARGE INTESTINE c.4709A>G p.K1570R COSMIC PASSENGER/OTHER Probably Damaging 357 TCGA-AG-A002-01 LARGE INTESTINE c.2518C>A p.P840T COSMIC PASSENGER/OTHER Probably Damaging 358 TCGA-AG-A002-01 LARGE INTESTINE c.7121C>A p.S2374Y COSMIC PASSENGER/OTHER Probably Damaging 359 TCGA-AP-A056-01 ENDOMETRIUM c.2820T>G p.L940L COSMIC NP NP 360 TCGA-AP-A0LM-01 ENDOMETRIUM c.1436A>C p.Q479P COSMIC PASSENGER/OTHER Benign 361 TCGA-AP-A0LM-01 ENDOMETRIUM c.3355G>A p.D1119N COSMIC PASSENGER/OTHER Probably Damaging 362 TCGA-AP-A0LQ-01 ENDOMETRIUM c.3841C>T p.R1281* COSMIC NP NP 363 TCGA-AU-6004-01 LARGE INTESTINE c.378G>A p.M126I COSMIC PASSENGER/OTHER Benign 364 TCGA-AX-A05Z-01 ENDOMETRIUM c.3338A>T p.E1113V COSMIC PASSENGER/OTHER Probably Damaging 365 TCGA-AX-A0J0-01 ENDOMETRIUM c.3684A>C p.K1228N COSMIC CANCER Probably Damaging 366 TCGA-AX-A0J0-01 ENDOMETRIUM c.3810C>T p.F1270F COSMIC NP NP 367 TCGA-AX-A0J0-01 ENDOMETRIUM c.746A>G p.N249S COSMIC PASSENGER/OTHER Possibly Damaging 368 TCGA-AY-5543-01 LARGE INTESTINE c.1521C>T p.S507S COSMIC NP NP 369 TCGA-AY-6196-01 LARGE INTESTINE c.4011A>T p.P1337P COSMIC NP NP 370 TCGA-AY-6386-01 LARGE INTESTINE c.4795C>A p.R1599S COSMIC PASSENGER/OTHER Probably Damaging 371 TCGA-AZ-6598-01 LARGE INTESTINE c.3039A>G p.E1013E COSMIC NP NP 372 TCGA-AZ-6601-01 LARGE INTESTINE c.5193C>T p.R1731R COSMIC NP NP 373 TCGA-B0-4811-01 KIDNEY c.6022T>C p.S2008P COSMIC PASSENGER/OTHER Benign 374 TCGA-B0-5098-01 KIDNEY c.6597A>G p.P2199P COSMIC NP NP 375 TCGA-B0-5713-01 KIDNEY c.498C>A p.N166K COSMIC PASSENGER/OTHER Possibly Damaging 376 TCGA-B5-A0JY-01 ENDOMETRIUM c.1739G>A p.R580Q COSMIC CANCER Probably Damaging 377 TCGA-B5-A0JY-01 ENDOMETRIUM c.4933C>T p.R1645* COSMIC NP NP 378 TCGA-B5-A0JY-01 ENDOMETRIUM c.5842T>A p.F1948I COSMIC PASSENGER/OTHER Benign 379 TCGA-B5-A11E-01 ENDOMETRIUM c.1796C>A p.A599D COSMIC PASSENGER/OTHER Probably Damaging 380 TCGA-B5-A11E-01 ENDOMETRIUM c.2789C>T p.P930L COSMIC PASSENGER/OTHER Benign 381 TCGA-B5-A11E-01 ENDOMETRIUM c.3302C>T p.T1101I COSMIC PASSENGER/OTHER Probably Damaging 382 TCGA-B5-A11E-01 ENDOMETRIUM c.3842G>A p.R1281Q COSMIC PASSENGER/OTHER Probably Damaging 383 TCGA-B5-A11G-01 ENDOMETRIUM c.4352A>G p.H1451R COSMIC CANCER Probably Damaging 384 TCGA-B6-A0RL-01 BREAST c.2299C>T p.Q767* COSMIC NP NP 385 TCGA-B8-5158-01 KIDNEY c.7079A>G p.E2360G COSMIC PASSENGER/OTHER Benign 386 TCGA-BG-A0LX-01 ENDOMETRIUM c.4886C>T p.A1629V COSMIC PASSENGER/OTHER Probably Damaging 387 TCGA-BG-A0MG-01 ENDOMETRIUM c.5014G>T p.E1672* COSMIC NP NP 388 TCGA-BG-A0MU-01 ENDOMETRIUM c.3377A>G p.N1126S COSMIC PASSENGER/OTHER Probably Damaging 389 TCGA-BG-A0RY-01 ENDOMETRIUM c.181delA p.I61fs*55 COSMIC NP NP 390 TCGA-BH-A0DZ-01 BREAST c.6023C>T p.S2008F COSMIC PASSENGER/OTHER Benign 391 TCGA-BH-A18U-01 BREAST c.18G>A p.V6V COSMIC NP NP 392 TCGA-BK-A0C9-01 ENDOMETRIUM c.6892C>T p.Q2298* COSMIC NP NP 393 TCGA-BS-A0TA-01 ENDOMETRIUM c.4189T>G p.Y1397D COSMIC CANCER Probably Damaging 394 TCGA-BS-A0TJ-01 ENDOMETRIUM c.1778C>A p.P593H COSMIC CANCER Probably Damaging 395 TCGA-BS-A0UF-01 ENDOMETRIUM c.3977T>C p.V1326A COSMIC CANCER Probably Damaging 396 TCGA-BS-A0UF-01 ENDOMETRIUM c.4051G>T p.E1351* COSMIC NP NP 397 TCGA-BS-A0UF-01 ENDOMETRIUM c.4512C>T p.F1504F COSMIC NP NP 398 TCGA-BS-A0UF-01 ENDOMETRIUM c.936G>T p.Q312H COSMIC PASSENGER/OTHER Probably Damaging 399 TCGA-BS-A0UJ-01 ENDOMETRIUM c.6250T>G p.F2084V COSMIC CANCER Probably Damaging 400 TCGA-BT-A20X-01 URINARY TRACT c.6754G>T p.E2252* COSMIC NP NP 401 TCGA-BT-A3PH-01 URINARY TRACT c.40A>C p.K14Q COSMIC CANCER Probably Damaging 402 TCGA-C8-A27B-01 BREAST c.4352A>C p.H1451P COSMIC CANCER Probably Damaging 403 TCGA-CA-5796-01 LARGE INTESTINE c.1784C>T p.P595L COSMIC PASSENGER/OTHER Probably Damaging 404 TCGA-CA-6717-01 LARGE INTESTINE c.1595T>G p.M532R COSMIC PASSENGER/OTHER Probably Damaging 405 TCGA-CA-6717-01 LARGE INTESTINE c.5331C>T p.G1777G COSMIC NP NP 406 TCGA-CI-6619-01 LARGE INTESTINE c.4708A>G p.K1570E COSMIC PASSENGER/OTHER Probably Damaging 407 TCGA-CJ-6030-01 KIDNEY c.5279A>G p.K1760R COSMIC PASSENGER/OTHER Probably Damaging 408 TCGA-CK-4952-01 LARGE INTESTINE c.4518T>C p.G1506G COSMIC NP NP 409 TCGA-CK-5913-01 LARGE INTESTINE c.3416A>G p.Y1139C COSMIC PASSENGER/OTHER Probably Damaging 410 TCGA-CM-4743-01 LARGE INTESTINE c.257G>A p.R86Q COSMIC PASSENGER/OTHER Probably Damaging 411 TCGA-CM-4743-01 LARGE INTESTINE c.4710A>G p.K1570K COSMIC NP NP 412 TCGA-CM-4752-01 LARGE INTESTINE c.257G>A p.R86Q COSMIC PASSENGER/OTHER Probably Damaging 413 TCGA-CM-4752-01 LARGE INTESTINE c.4708A>G p.K1570E COSMIC PASSENGER/OTHER Probably Damaging 414 TCGA-CM-5868-01 LARGE INTESTINE c.3041A>G p.E1014G COSMIC PASSENGER/OTHER Possibly Damaging 415 TCGA-CM-6162-01 LARGE INTESTINE c.5848A>G p.R1950G COSMIC PASSENGER/OTHER Possibly Damaging 416 TCGA-CM-6166-01 LARGE INTESTINE c.1521C>T p.S507S COSMIC NP NP 417 TCGA-CM-6676-01 LARGE INTESTINE c.4356T>C p.P1452P COSMIC NP NP 418 TCGA-CU-A0YR-01 URINARY TRACT c.49A>G p.K17E COSMIC CANCER Probably Damaging 419 TCGA-CU-A3KJ-01 URINARY TRACT c.4933C>T p.R1645* COSMIC NP NP 420 TCGA-CU-A3KJ-01 URINARY TRACT c.5217C>G p.I1739M COSMIC PASSENGER/OTHER Probably Damaging 421 TCGA-CU-A3KJ-01 URINARY TRACT c.5364C>G p.L1788L COSMIC NP NP 422 TCGA-CU-A3KJ-01 URINARY TRACT c.6004C>G p.Q2002E COSMIC PASSENGER/OTHER Possibly Damaging 423 TCGA-CU-A3KJ-01 URINARY TRACT c.6123C>G p.L2041L COSMIC NP NP 424 TCGA-CU-A3KJ-01 URINARY TRACT c.6174C>G p.L2058L COSMIC NP NP 425 TCGA-CZ-4859-01 KIDNEY c.6643C>A p.Q2215K COSMIC PASSENGER/OTHER Benign 426 TCGA-D1-A0ZR-01 ENDOMETRIUM c.4467_4468insG p.A1490fs*3 COSMIC NP NP 427 TCGA-D1-A103-01 ENDOMETRIUM c.3117G>A p.P1039P COSMIC NP NP 428 TCGA-D1-A16F-01 ENDOMETRIUM c.2124A>G p.P708P COSMIC NP NP 429 TCGA-D1-A16X-01 ENDOMETRIUM c.3853G>T p.E1285* COSMIC NP NP 430 TCGA-D1-A177-01 ENDOMETRIUM c.1543G>T p.G515* COSMIC NP NP 431 TCGA-D1-A17Q-01 ENDOMETRIUM c.6950G>T p.R2317L COSMIC PASSENGER/OTHER Benign 432 TCGA-D5-5538-01 LARGE INTESTINE c.6969C>T p.P2323P COSMIC NP NP 433 TCGA-D5-5540-01 LARGE INTESTINE c.3731T>G p.F1244C COSMIC PASSENGER/OTHER Probably Damaging 434 TCGA-D5-6533-01 LARGE INTESTINE c.3039A>G p.E1013E COSMIC NP NP 435 TCGA-D5-6539-01 LARGE INTESTINE c.4795C>T p.R1599C COSMIC PASSENGER/OTHER Probably Damaging 436 TCGA-D5-6540-01 LARGE INTESTINE c.1770C>T p.A590A COSMIC NP NP 437 TCGA-D5-6931-01 LARGE INTESTINE c.1759C>T p.L587F COSMIC CANCER Probably Damaging 438 TCGA-D8-A1XM-01 BREAST c.2498C>T p.S833L COSMIC PASSENGER/OTHER Probably Damaging 439 TCGA-D8-A1XZ-01 BREAST c.980C>T p.A327V COSMIC PASSENGER/OTHER Probably Damaging 440 TCGA-DC-6682-01 LARGE INTESTINE c.3041A>G p.E1014G COSMIC PASSENGER/OTHER Possibly Damaging 441 TCGA-DC-6682-01 LARGE INTESTINE c.550C>T p.Q184* COSMIC NP NP 442 TCGA-DK-A1A5-01 URINARY TRACT c.4227G>C p.L1409F COSMIC PASSENGER/OTHER Benign 443 TCGA-DK-A1A7-01 URINARY TRACT c.3284G>T p.S1095I COSMIC PASSENGER/OTHER Benign 444 TCGA-DK-A2I6-01 URINARY TRACT c.4195G>T p.D1399Y COSMIC CANCER Probably Damaging 445 TCGA-DM-A1D0-01 LARGE INTESTINE c.5039G>A p.R1680H COSMIC PASSENGER/OTHER Probably Damaging 446 TCGA-DM-A1DA-01 LARGE INTESTINE c.4708A>G p.K1570E COSMIC PASSENGER/OTHER Probably Damaging 447 TCGA-DM-A1DB-01 LARGE INTESTINE c.5640C>A p.P1880P COSMIC NP NP 448 TCGA-DY-A1DD-01 LARGE INTESTINE c.942C>T p.G314G COSMIC NP NP 449 TCGA-E9-A1N3-01 BREAST c.1501_1502insG p.Q501fs*12 COSMIC NP NP 450 TCGA-EI-6507-01 LARGE INTESTINE c.3039A>G p.E1013E COSMIC NP NP 451 TCGA-EI-6507-01 LARGE INTESTINE c.6964delC p.H2324fs*29 COSMIC NP NP 452 TCGA-EI-6510-01 LARGE INTESTINE c.4879C>T p.R1627W COSMIC CANCER Probably Damaging 453 TCGA-EX-A1H5-01 CERVIX c.4195G>A p.D1399N COSMIC CANCER Probably Damaging 454 TCGA-F5-6813-01 LARGE INTESTINE c.5039G>A p.R1680H COSMIC PASSENGER/OTHER Probably Damaging 455 TCGA-FD-A3B8-01 URINARY TRACT c.2482C>T p.H828Y COSMIC PASSENGER/OTHER Probably Damaging 456 TCGA-FD-A3B8-01 URINARY TRACT c.2485C>T p.Q829* COSMIC NP NP 457 TCGA-G2-A2EJ-01 URINARY TRACT c.2245A>G p.M749V COSMIC PASSENGER/OTHER Benign 458 TCGA-G2-A2EL-01 URINARY TRACT c.4365G>C p.Q1455H COSMIC CANCER Probably Damaging 459 TCGA-G4-6323-01 LARGE INTESTINE c.4709A>G p.K1570R COSMIC PASSENGER/OTHER Probably Damaging 460 TCGA-G4-6323-01 LARGE INTESTINE c.4949C>T p.S1650F COSMIC CANCER Probably Damaging 461 TCGA-G4-6628-01 LARGE INTESTINE c.2845G>T p.G949* COSMIC NP NP 462 TCGA-G4-6628-01 LARGE INTESTINE c.5862C>T p.H1954H COSMIC NP NP 463 TCGA-G5-6235-01 LARGE INTESTINE c.4795C>T p.R1599C COSMIC PASSENGER/OTHER Probably Damaging 464 TCGA-G5-6235-01 LARGE INTESTINE c.6523A>G p.M2175V COSMIC PASSENGER/OTHER Benign 465 TCGA-G5-6235-01 LARGE INTESTINE c.6662C>T p.P2221L COSMIC PASSENGER/OTHER Benign 466 TCGA-G5-6641-01 LARGE INTESTINE c.3934C>T p.R1312* COSMIC NP NP 467 TCGA-G9-6366-01 PROSTATE c.6262C>T p.R2088W COSMIC CANCER Probably Damaging 468 TCGA-GD-A3OQ-01 URINARY TRACT c.4154G>A p.C1385Y COSMIC PASSENGER/OTHER Probably Damaging 469 TCGA-GV-A3JX-01 URINARY TRACT c.4578G>C p.E1526D COSMIC CANCER Probably Damaging 470 TCGA-GV-A3JZ-01 URINARY TRACT c.1891C>G p.H631D COSMIC PASSENGER/OTHER Probably Damaging 471 VP229 BREAST c.5095delA p.N1700fs*9 COSMIC NP NP 472 YUKLAB SKIN c.1099_1100CC>TT p.P367F COSMIC PASSENGER/OTHER Probably Damaging 473 YULAN SKIN c.2590C>T p.P864S COSMIC PASSENGER/OTHER Benign 474 YUSWI SKIN c.3233C>T p.P1078L COSMIC PASSENGER/OTHER Probably Damaging 475 YUWAND SKIN c.1551T>A p.N517K COSMIC PASSENGER/OTHER Probably Damaging 476 cSCCP1 SKIN c.4355C>A p.P1452H COSMIC CANCER Probably Damaging 477 cSCCP4 SKIN c.6907C>T p.L2303F COSMIC CANCER Probably Damaging 478 ccRCC-35 KIDNEY c.7109A>T p.N2370I COSMIC PASSENGER/OTHER Benign 479 ccRCC-43 KIDNEY c.419C>T p.T140I COSMIC PASSENGER/OTHER Possibly Damaging 480 ccRCC-52 KIDNEY c.4519G>A p.D1507N COSMIC CANCER Probably Damaging 481 ccRCC-66 KIDNEY c.1608C>T p.A536A COSMIC NP NP 482 ccRCC-95 KIDNEY c.1138A>G p.T380A COSMIC PASSENGER/OTHER Probably Damaging
*NP: Not Predicted -
Copy number variation and expression profile (+)
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Gene Essentiality Data (+)
Note: Lower the GARP score (more negative), higher the essentiality of the gene. P-value tells about the significane of GARP score.test -
Tertiary structure (+)
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Structure Domains (+)
1. PFAM Domains:Domain ID Domain Name Start Site End Site E-value PB015526 Pfam-B_15526 32 129 1.3e-42 PF02135 zf-TAZ 337 416 3.5e-21 PF02172 KIX 567 646 3.4e-41 PF00439 Bromodomain 1068 1143 8.4e-18 PF06001 DUF902 1155 1196 2.4e-24 PF08214 KAT11 1307 1604 2.8e-80 PF00569 ZZ 1665 1705 8e-14 PF02135 zf-TAZ 1734 1806 2e-16 PF09030 Creb_binding 1990 2099 1.5e-43 -
Sequence Alignment (+)
Users must enabled the Java in their browser to see sequence alignments.
Users can also download Java from here.1. Sequence alignment with 1000 genome variations:
Click on button to get Sequence alignment with Coverage, Consensus and Quality 2. Sequence alignment with CCLE mutants:
Click on button to get Sequence alignment with Coverage, Consensus and Quality 3. Sequence alignment with COSMIC mutants:
Click on button to get Sequence alignment with Coverage, Consensus and Quality 4. Sequence alignment with homologus proteins:
Click on button to get Sequence alignment with Coverage, Consensus and Quality -
Sequence Profiles (+)
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Post Translational Modifications (+)
S. No. Position Amino acid Type 1 1001 K Acetylation 2 1020 K Deacetylation 3 1020 K Sumoylation 4 1020 K Sumoylation 5 1020 K Acetylation 6 1020 K Acetylation 7 1024 K Deacetylation 8 1024 K Sumoylation 9 1024 K Sumoylation 10 1024 K Acetylation 11 1024 K Acetylation 12 1037 S Phosphorylation 13 1038 S Phosphorylation 14 1038 S Phosphorylation 15 1045 K Acetylation 16 1046 K Acetylation 17 1047 K Acetylation 18 106 S Phosphorylation 19 1094 K Acetylation 20 1103 K Acetylation 21 1103 K Acetylation 22 1105 K Acetylation 23 1144 K Acetylation 24 1167 K Acetylation 25 1180 K Acetylation 26 12 S Phosphorylation 27 1203 K Acetylation 28 1228 K Acetylation 29 1295 S Phosphorylation 30 1296 T Phosphorylation 31 1331 K Acetylation 32 1336 K Acetylation 33 1336 K Acetylation 34 1340 K Acetylation 35 1414 Y Phosphorylation 36 1421 Y Phosphorylation 37 1424 Y Phosphorylation 38 1427 K Acetylation 39 1473 K Acetylation 40 1473 K Acetylation 41 1499 K Acetylation 42 1499 K Acetylation 43 1518 K Acetylation 44 1528 K Acetylation 45 1542 K Acetylation 46 1542 K Acetylation 47 1546 K Acetylation 48 1546 K Acetylation 49 1549 K Acetylation 50 1549 K Acetylation 51 1550 K Acetylation 52 1550 K Acetylation 53 1551 K Acetylation 54 1551 K Acetylation 55 1554 K Acetylation 56 1554 K Acetylation 57 1555 K Acetylation 58 1555 K Acetylation 59 1558 K Acetylation 60 1558 K Acetylation 61 1560 K Acetylation 62 1560 K Acetylation 63 1568 K Acetylation 64 1568 K Acetylation 65 1569 K Acetylation 66 1569 K Acetylation 67 1570 K Acetylation 68 1583 K Acetylation 69 1583 K Acetylation 70 1590 K Acetylation 71 1590 K Acetylation 72 1637 K Ubiquitylation 73 1637 K Acetylation 74 1637 K Acetylation 75 1674 K Acetylation 76 1674 K Acetylation 77 1699 K Acetylation 78 1704 K Acetylation 79 1707 K Acetylation 80 1734 S Phosphorylation 81 1760 K Acetylation 82 1762 K Acetylation 83 1769 K Acetylation 84 1772 K Acetylation 85 1774 K Acetylation 86 1783 K Acetylation 87 1794 K Acetylation 88 1800 K Acetylation 89 1810 K Acetylation 90 1812 K Acetylation 91 1834 S Phosphorylation 92 1834 S Phosphorylation (AKT1) 93 1834 S Phosphorylation 94 1857 T Phosphorylation 95 1857 T Phosphorylation 96 1859 T Phosphorylation 97 1859 T Phosphorylation 98 1960 T Phosphorylation 99 2 A Acetylation 100 2086 K Acetylation 101 2091 K Acetylation 102 2142 R Methylation 103 2142 R Methylation 104 2142 R Citrullination 105 2279 S Phosphorylation 106 2309 S Phosphorylation 107 2315 S Phosphorylation 108 2328 S Phosphorylation 109 2366 S Phosphorylation 110 24 S Phosphorylation 111 285 S Phosphorylation 112 285 S Phosphorylation 113 291 K Acetylation 114 292 K Acetylation 115 317 T Phosphorylation 116 336 K Acetylation 117 350 K Acetylation 118 373 K Acetylation 119 386 K Acetylation 120 404 K Acetylation 121 418 K Acetylation 122 423 K Acetylation 123 489 K Acetylation 124 569 K Acetylation 125 580 R Methylation 126 580 R Methylation 127 601 K Acetylation 128 604 R Methylation 129 604 R Methylation 130 611 Y Phosphorylation 131 614 K Acetylation 132 620 Y Phosphorylation 133 629 Y Phosphorylation 134 630 Y Phosphorylation 135 636 K Acetylation 136 636 K Acetylation 137 638 Y Phosphorylation 138 77 K Acetylation 139 79 K Acetylation 140 831 S Phosphorylation 141 833 S Phosphorylation 142 839 T Phosphorylation 143 841 T Phosphorylation 144 845 T Phosphorylation 145 885 T Phosphorylation 146 885 T Phosphorylation 147 887 T Phosphorylation 148 887 T Phosphorylation 149 89 S Phosphorylation 150 89 S Phosphorylation (PRKCD) 151 89 S Phosphorylation 152 89 S Phosphorylation 153 938 T Phosphorylation 154 970 K Acetylation 155 977 K Acetylation 156 977 K Acetylation 157 981 K Acetylation 158 981 K Acetylation -
Other Databases Link (+)
Proteomics DB COSMIC Gene Atlas STRING PIR EP300 EP300 EP300 ENSP00000263253 Q09472 QuickGO HGNC Ensembl Genome Browser TreeFam UniProt Q09472 EP300 ENSP00000263253 EP300 Q09472 Expression Atlas Protein Atlas OMIM IntAct PharmGKB EP300 ENSP00000263253 602700 Q09472 PA162384544
