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: CREBBP |
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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.575A>G p.N192S CCLE PASSENGER/OTHER Benign 2 59M OVARY c.2318C>T p.P773L CCLE PASSENGER/OTHER Probably Damaging 3 639V URINARY TRACT c.1802G>A p.R601Q CCLE CANCER Probably Damaging 4 AN3CA ENDOMETRIUM c.3250_3250delA p.I1084fs CCLE NP NP 5 BICR56 UPPER AERODIGESTIVE TRACT c.5282C>G p.S1761* CCLE NP NP 6 BICR56 UPPER AERODIGESTIVE TRACT c.5782C>G p.Q1928E CCLE PASSENGER/OTHER Possibly Damaging 7 BV173 HAEMATOPOIETIC AND LYMPHOID TISSUE c.4873A>T p.M1625L CCLE PASSENGER/OTHER Possibly Damaging 8 CAL27 UPPER AERODIGESTIVE TRACT c.7169C>A p.T2390N CCLE PASSENGER/OTHER Benign 9 CAL62 THYROID c.4621G>T p.E1541* CCLE NP NP 10 CALU6 LUNG c.2713G>A p.E905K CCLE NP NP 11 CCK81 LARGE INTESTINE c.1445A>G p.Q482R CCLE PASSENGER/OTHER Benign 12 CCK81 LARGE INTESTINE c.40_40delA p.R14fs CCLE NP NP 13 CHL1 SKIN c.2219G>A p.G740E CCLE PASSENGER/OTHER Probably Damaging 14 CL34 LARGE INTESTINE c.3250_splice p.I1084_splice CCLE NP NP 15 CMLT1 HAEMATOPOIETIC AND LYMPHOID TISSUE c.1813G>A p.V605M CCLE CANCER Probably Damaging 16 COLO792 SKIN c.1346C>T p.P449L CCLE PASSENGER/OTHER Benign 17 CORL47 LUNG c.4800C>G p.I1600M CCLE PASSENGER/OTHER Benign 18 CW2 LARGE INTESTINE c.3082C>T p.P1028S CCLE NP NP 19 CW2 LARGE INTESTINE c.40_41insA p.R14fs CCLE NP NP 20 DEL HAEMATOPOIETIC AND LYMPHOID TISSUE c.4890_splice p.E1630_splice CCLE NP NP 21 DMS53 LUNG c.2911G>C p.E971Q CCLE NP NP 22 DV90 LUNG c.1050_1051insA p.K350fs CCLE NP NP 23 EFO27 OVARY c.5293_5294insC p.Q1765fs CCLE NP NP 24 EFO27 OVARY c.743C>T p.P248L CCLE PASSENGER/OTHER Probably Damaging 25 EN ENDOMETRIUM c.4718A>C p.E1573A CCLE PASSENGER/OTHER Probably Damaging 26 EPLC272H LUNG c.2762C>T p.A921V CCLE PASSENGER/OTHER Benign 27 EPLC272H LUNG c.5394G>A p.M1798I CCLE CANCER Possibly Damaging 28 ESS1 ENDOMETRIUM c.4792A>G p.S1598G CCLE CANCER Probably Damaging 29 EVSAT BREAST c.2803C>T p.Q935* CCLE NP NP 30 GCT SOFT TISSUE c.3215C>T p.S1072F CCLE PASSENGER/OTHER Benign 31 GI1 CENTRAL NERVOUS SYSTEM c.5039_5041delCCT p.S1680del CCLE NP NP 32 GP2D LARGE INTESTINE c.2846C>T p.P949L CCLE PASSENGER/OTHER Probably Damaging 33 GP2D LARGE INTESTINE c.5410C>T p.H1804Y CCLE CANCER Probably Damaging 34 HARA LUNG c.4216G>C p.D1406H CCLE CANCER Probably Damaging 35 HCC1395 BREAST c.3891C>G p.H1297Q CCLE PASSENGER/OTHER Probably Damaging 36 HCC33 LUNG c.5470G>A p.A1824T CCLE PASSENGER/OTHER Probably Damaging 37 HCT116 LARGE INTESTINE c.2936C>T p.T979M CCLE NP NP 38 HCT15 LARGE INTESTINE c.3449C>A p.P1150H CCLE PASSENGER/OTHER Probably Damaging 39 HCT15 LARGE INTESTINE c.4561_splice p.D1521_splice CCLE NP NP 40 HEC108 ENDOMETRIUM c.2383C>T p.P795S CCLE PASSENGER/OTHER Benign 41 HEC108 ENDOMETRIUM c.4946T>C p.I1649T CCLE PASSENGER/OTHER Probably Damaging 42 HEC1B ENDOMETRIUM c.1663C>A p.L555M CCLE PASSENGER/OTHER Possibly Damaging 43 HEC265 ENDOMETRIUM c.5045G>A p.R1682H CCLE CANCER Probably Damaging 44 HEC59 ENDOMETRIUM c.5837_5837delC p.P1946fs CCLE NP NP 45 HEC59 ENDOMETRIUM c.743C>T p.P248L CCLE PASSENGER/OTHER Probably Damaging 46 HEC6 ENDOMETRIUM c.4282C>T p.R1428C CCLE CANCER Probably Damaging 47 HS604T HAEMATOPOIETIC AND LYMPHOID TISSUE c.2924C>T p.P975L CCLE PASSENGER/OTHER Probably Damaging 48 HSC2 UPPER AERODIGESTIVE TRACT c.2283_splice p.G761_splice CCLE NP NP 49 HT115 LARGE INTESTINE c.5855C>T p.P1952L CCLE PASSENGER/OTHER Benign 50 HT144 SKIN c.3837_splice p.P1279_splice CCLE NP NP 51 IGROV1 OVARY c.3478A>G p.M1160V CCLE PASSENGER/OTHER Benign 52 ISHIKAWAHERAKLIO02ER ENDOMETRIUM c.5444_5444delG p.G1815fs CCLE NP NP 53 JHH1 LIVER c.5254G>T p.E1752* CCLE NP NP 54 JHUEM7 ENDOMETRIUM c.4661A>C p.K1554T CCLE PASSENGER/OTHER Probably Damaging 55 KCL22 HAEMATOPOIETIC AND LYMPHOID TISSUE c.6133C>T p.Q2045* CCLE NP NP 56 KM12 LARGE INTESTINE c.4990C>T p.R1664C CCLE CANCER Probably Damaging 57 L540 HAEMATOPOIETIC AND LYMPHOID TISSUE c.3995C>T p.T1332I CCLE CANCER Probably Damaging 58 LNCAPCLONEFGC PROSTATE c.329C>T p.A110V CCLE PASSENGER/OTHER Benign 59 LOVO LARGE INTESTINE c.1717A>G p.T573A CCLE PASSENGER/OTHER Benign 60 LS411N LARGE INTESTINE c.3250_3250delA p.I1084fs CCLE NP NP 61 LS411N LARGE INTESTINE c.6581G>A p.R2194Q CCLE PASSENGER/OTHER Possibly Damaging 62 MFE319 ENDOMETRIUM c.2615C>A p.T872K CCLE PASSENGER/OTHER Benign 63 MFE319 ENDOMETRIUM c.2785C>T p.Q929* CCLE NP NP 64 MFE319 ENDOMETRIUM c.7112C>T p.P2371L CCLE PASSENGER/OTHER Probably Damaging 65 MOLM16 HAEMATOPOIETIC AND LYMPHOID TISSUE c.6633_6638delACAGCA p.2211_2213QQQ>Q CCLE NP NP 66 MOLP2 HAEMATOPOIETIC AND LYMPHOID TISSUE c.1859C>T p.A620V CCLE PASSENGER/OTHER Probably Damaging 67 NALM6 HAEMATOPOIETIC AND LYMPHOID TISSUE c.5059T>C p.S1687P CCLE CANCER Benign 68 NCIH1048 LUNG c.5039_5041delCCT p.S1680del CCLE NP NP 69 NCIH1105 LUNG c.1327C>T p.Q443* CCLE NP NP 70 NCIH1651 LUNG c.7262C>T p.S2421F CCLE PASSENGER/OTHER Benign 71 NCIH1703 LUNG c.4416G>T p.W1472C CCLE CANCER Probably Damaging 72 NCIH1703 LUNG c.6524A>G p.N2175S CCLE PASSENGER/OTHER Benign 73 NCIH1876 LUNG c.3256A>T p.K1086* CCLE NP NP 74 NCIH2009 LUNG c.200A>G p.H67R CCLE PASSENGER/OTHER Probably Damaging 75 NCIH2087 LUNG c.5538C>G p.I1846M CCLE PASSENGER/OTHER Probably Damaging 76 NCIH2106 LUNG c.6076C>T p.L2026F CCLE PASSENGER/OTHER Benign 77 NCIH2110 LUNG c.2659G>C p.D887H CCLE NP NP 78 NCIH211 LUNG c.4690A>G p.K1564E CCLE PASSENGER/OTHER Probably Damaging 79 NCIH508 LARGE INTESTINE c.4620_4620delT p.F1540fs CCLE NP NP 80 NCIH520 LUNG c.4336C>T p.R1446C CCLE CANCER Probably Damaging 81 NCIH650 LUNG c.2414C>A p.A805E CCLE PASSENGER/OTHER Probably Damaging 82 NCIH838 LUNG c.2888G>T p.G963V CCLE NP NP 83 NUDHL1 HAEMATOPOIETIC AND LYMPHOID TISSUE c.4337G>T p.R1446L CCLE PASSENGER/OTHER Probably Damaging 84 NUDHL1 HAEMATOPOIETIC AND LYMPHOID TISSUE c.508C>T p.Q170* CCLE NP NP 85 OCIAML5 HAEMATOPOIETIC AND LYMPHOID TISSUE c.662G>T p.G221V CCLE PASSENGER/OTHER Probably Damaging 86 OCILY10 HAEMATOPOIETIC AND LYMPHOID TISSUE c.2702C>T p.P901L CCLE PASSENGER/OTHER Probably Damaging 87 OCILY10 HAEMATOPOIETIC AND LYMPHOID TISSUE c.3712G>T p.E1238* CCLE NP NP 88 OCILY19 HAEMATOPOIETIC AND LYMPHOID TISSUE c.4305T>A p.D1435E CCLE CANCER Probably Damaging 89 OCIM1 HAEMATOPOIETIC AND LYMPHOID TISSUE c.4281_splice p.R1427_splice CCLE NP NP 90 OV56 OVARY c.5855C>T p.P1952L CCLE PASSENGER/OTHER Benign 91 OVCAR8 OVARY c.2678C>A p.S893* CCLE NP NP 92 P31FUJ HAEMATOPOIETIC AND LYMPHOID TISSUE c.3623_3624insC p.P1208fs CCLE NP NP 93 PECAPJ41CLONED2 UPPER AERODIGESTIVE TRACT c.2827C>T p.Q943* CCLE NP NP 94 PECAPJ49 UPPER AERODIGESTIVE TRACT c.5282C>G p.S1761* CCLE NP NP 95 PF382 HAEMATOPOIETIC AND LYMPHOID TISSUE c.1184T>C p.M395T CCLE CANCER Probably Damaging 96 PF382 HAEMATOPOIETIC AND LYMPHOID TISSUE c.3323C>T p.S1108L CCLE PASSENGER/OTHER Probably Damaging 97 PF382 HAEMATOPOIETIC AND LYMPHOID TISSUE c.4294T>C p.S1432P CCLE CANCER Probably Damaging 98 PFEIFFER HAEMATOPOIETIC AND LYMPHOID TISSUE c.4471C>A p.Q1491K CCLE PASSENGER/OTHER Probably Damaging 99 RI1 HAEMATOPOIETIC AND LYMPHOID TISSUE c.4078C>T p.R1360* CCLE NP NP 100 RKN SOFT TISSUE c.2753G>A p.C918Y CCLE NP NP 101 RKO LARGE INTESTINE c.1824_splice p.L608_splice CCLE NP NP 102 RKO LARGE INTESTINE c.2465A>G p.E822G CCLE NP Possibly Damaging 103 RKO LARGE INTESTINE c.2509G>T p.D837Y CCLE NP NP 104 SKMEL2 SKIN c.5437A>G p.N1813D CCLE PASSENGER/OTHER Probably Damaging 105 SNGM ENDOMETRIUM c.4991G>A p.R1664H CCLE CANCER Probably Damaging 106 SNGM ENDOMETRIUM c.731C>T p.T244M CCLE PASSENGER/OTHER Probably Damaging 107 SNU1040 LARGE INTESTINE c.3272G>A p.R1091H CCLE PASSENGER/OTHER Probably Damaging 108 SNU1040 LARGE INTESTINE c.3506G>A p.R1169H CCLE PASSENGER/OTHER Probably Damaging 109 SNU1040 LARGE INTESTINE c.4214T>C p.V1405A CCLE PASSENGER/OTHER Probably Damaging 110 SNU1040 LARGE INTESTINE c.4637C>A p.P1546H CCLE CANCER Probably Damaging 111 SNU175 LARGE INTESTINE c.6709C>A p.P2237T CCLE PASSENGER/OTHER Benign 112 SNU407 LARGE INTESTINE c.2570C>T p.A857V CCLE NP NP 113 SNU520 STOMACH c.1478T>C p.M493T CCLE PASSENGER/OTHER Benign 114 SNU81 LARGE INTESTINE c.4337G>A p.R1446H CCLE CANCER Probably Damaging 115 SNU869 BILIARY TRACT c.6569G>A p.R2190Q CCLE PASSENGER/OTHER Benign 116 SNUC2A LARGE INTESTINE c.617C>T p.A206V CCLE PASSENGER/OTHER Probably Damaging 117 SNUC5 LARGE INTESTINE c.3559C>T p.Q1187* CCLE NP NP 118 SNUC5 LARGE INTESTINE c.4720A>G p.T1574A CCLE PASSENGER/OTHER Benign 119 SR786 HAEMATOPOIETIC AND LYMPHOID TISSUE c.2782C>G p.P928A CCLE PASSENGER/OTHER Benign 120 SUDHL6 HAEMATOPOIETIC AND LYMPHOID TISSUE c.1409_1409delT p.L470fs CCLE NP NP 121 SUDHL8 HAEMATOPOIETIC AND LYMPHOID TISSUE c.4320C>A p.F1440L CCLE PASSENGER/OTHER Probably Damaging 122 SUPHD1 HAEMATOPOIETIC AND LYMPHOID TISSUE c.2368C>T p.Q790* CCLE NP NP 123 SW1088 CENTRAL NERVOUS SYSTEM c.3500A>G p.Y1167C CCLE PASSENGER/OTHER Probably Damaging 124 SW1088 CENTRAL NERVOUS SYSTEM c.6600_6608delGCAGCAGCA p.2200_2203QQQQ>Q CCLE NP NP 125 SW403 LARGE INTESTINE c.2325G>A p.M775I CCLE PASSENGER/OTHER Benign 126 SW48 LARGE INTESTINE c.3250_3250delA p.I1084fs CCLE NP NP 127 SW48 LARGE INTESTINE c.5837_5837delC p.P1946fs CCLE NP NP 128 SW780 URINARY TRACT c.5039_5041delCCT p.S1680del CCLE NP NP 129 TE10 OESOPHAGUS c.4616A>G p.Y1539C CCLE CANCER Probably Damaging 130 TE1 OESOPHAGUS c.5367_5368insGCAAC p.N1789fs CCLE NP NP 131 TE8 OESOPHAGUS c.5293_5293delC p.Q1765fs CCLE NP NP 132 TEN ENDOMETRIUM c.4213G>A p.V1405M CCLE CANCER Probably Damaging 133 TGBC11TKB STOMACH c.3979_3980delAA p.K1327fs CCLE NP NP 134 TOLEDO HAEMATOPOIETIC AND LYMPHOID TISSUE c.5039_5041delCCT p.S1680del CCLE NP NP 135 TT OESOPHAGUS c.6157A>G p.M2053V CCLE PASSENGER/OTHER Benign 136 VMCUB1 URINARY TRACT c.4022G>A p.R1341Q CCLE PASSENGER/OTHER Probably Damaging 137 WSUDLCL2 HAEMATOPOIETIC AND LYMPHOID TISSUE c.3609_splice p.K1203_splice CCLE NP NP 138 YH13 CENTRAL NERVOUS SYSTEM c.6587A>T p.Q2196L CCLE PASSENGER/OTHER Benign 139 00-15694 HAEMATOPOIETIC AND LYMPHOID TISSUE c.4507T>C p.Y1503H COSMIC CANCER Probably Damaging 140 03-31713 HAEMATOPOIETIC AND LYMPHOID TISSUE c.4496T>A p.L1499Q COSMIC CANCER Probably Damaging 141 04-39108 HAEMATOPOIETIC AND LYMPHOID TISSUE c.4463C>G p.P1488R COSMIC CANCER Probably Damaging 142 05-24006 HAEMATOPOIETIC AND LYMPHOID TISSUE c.4496T>C p.L1499P COSMIC CANCER Probably Damaging 143 06-24881 HAEMATOPOIETIC AND LYMPHOID TISSUE c.4873A>G p.M1625V COSMIC PASSENGER/OTHER Possibly Damaging 144 08-067 SOFT TISSUE c.2191A>G p.N731D COSMIC PASSENGER/OTHER Probably Damaging 145 08-11596 HAEMATOPOIETIC AND LYMPHOID TISSUE c.4336C>T p.R1446C COSMIC CANCER Probably Damaging 146 10-654 LARGE INTESTINE c.2455G>A p.V819M COSMIC PASSENGER/OTHER Probably Damaging 147 10-76 LARGE INTESTINE c.2731C>T p.Q911* COSMIC NP NP 148 10-76 LARGE INTESTINE c.2861C>A p.A954D COSMIC PASSENGER/OTHER Benign 149 101286 LUNG c.4860G>A p.K1620K COSMIC NP NP 150 103515 LUNG c.1557G>A p.R519R COSMIC NP NP 151 103591 LUNG c.7130C>T p.S2377L COSMIC PASSENGER/OTHER Possibly Damaging 152 104929 OVARY c.4735C>T p.Q1579* COSMIC NP NP 153 1093 HAEMATOPOIETIC AND LYMPHOID TISSUE c.4492C>T p.R1498* COSMIC NP NP 154 112377 LUNG c.5475C>G p.L1825L COSMIC NP NP 155 12T SKIN c.7318G>A p.E2440K COSMIC PASSENGER/OTHER Possibly Damaging 156 1514 HAEMATOPOIETIC AND LYMPHOID TISSUE c.5035_5037delTCC p.S1680delS COSMIC NP NP 157 1518 HAEMATOPOIETIC AND LYMPHOID TISSUE c.4496T>C p.L1499P COSMIC CANCER Probably Damaging 158 1524370 HAEMATOPOIETIC AND LYMPHOID TISSUE c.4337G>A p.R1446H COSMIC CANCER Probably Damaging 159 1524371 HAEMATOPOIETIC AND LYMPHOID TISSUE c.4337G>A p.R1446H COSMIC CANCER Probably Damaging 160 1524381 HAEMATOPOIETIC AND LYMPHOID TISSUE c.4689G>C p.R1563S COSMIC PASSENGER/OTHER Probably Damaging 161 1524408 HAEMATOPOIETIC AND LYMPHOID TISSUE c.5660C>G p.S1887* COSMIC NP NP 162 1524409 HAEMATOPOIETIC AND LYMPHOID TISSUE c.5660C>G p.S1887* COSMIC NP NP 163 1524412 HAEMATOPOIETIC AND LYMPHOID TISSUE c.4499A>C p.Q1500P COSMIC PASSENGER/OTHER Probably Damaging 164 1524413 HAEMATOPOIETIC AND LYMPHOID TISSUE c.4499A>C p.Q1500P COSMIC PASSENGER/OTHER Probably Damaging 165 1524432 HAEMATOPOIETIC AND LYMPHOID TISSUE c.5282C>G p.S1761* COSMIC NP NP 166 1536 NS c.4224delC p.F1410fs*49 COSMIC NP NP 167 1546 HAEMATOPOIETIC AND LYMPHOID TISSUE c.3059A>T p.E1020V COSMIC PASSENGER/OTHER Benign 168 1647 HAEMATOPOIETIC AND LYMPHOID TISSUE c.4508A>T p.Y1503F COSMIC CANCER Probably Damaging 169 1649664 HAEMATOPOIETIC AND LYMPHOID TISSUE c.1744_1745CC>TTT p.P582fs*4 COSMIC NP NP 170 1649665 HAEMATOPOIETIC AND LYMPHOID TISSUE c.1744_1745CC>TTT p.P582fs*4 COSMIC NP NP 171 1649666 HAEMATOPOIETIC AND LYMPHOID TISSUE c.4232G>A p.G1411E COSMIC CANCER Probably Damaging 172 1649667 HAEMATOPOIETIC AND LYMPHOID TISSUE c.4232G>A p.G1411E COSMIC CANCER Probably Damaging 173 1649669 HAEMATOPOIETIC AND LYMPHOID TISSUE c.4231G>A p.G1411R COSMIC CANCER Probably Damaging 174 1649669 HAEMATOPOIETIC AND LYMPHOID TISSUE c.4262G>A p.C1421Y COSMIC PASSENGER/OTHER Probably Damaging 175 1649676 HAEMATOPOIETIC AND LYMPHOID TISSUE c.4471C>A p.Q1491K COSMIC PASSENGER/OTHER Probably Damaging 176 1649677 HAEMATOPOIETIC AND LYMPHOID TISSUE c.4448T>G p.I1483S COSMIC CANCER Probably Damaging 177 1649683 HAEMATOPOIETIC AND LYMPHOID TISSUE c.4304A>G p.D1435G COSMIC CANCER Probably Damaging 178 1781 NS c.4336C>T p.R1446C COSMIC CANCER Probably Damaging 179 18T SKIN c.758A>T p.H253L COSMIC PASSENGER/OTHER Possibly Damaging 180 1968392 STOMACH c.3250delA p.I1084fs*15 COSMIC NP NP 181 2000756 NS c.4415G>C p.W1472S COSMIC CANCER Probably Damaging 182 2015 HAEMATOPOIETIC AND LYMPHOID TISSUE c.4507T>G p.Y1503D COSMIC CANCER Probably Damaging 183 2020 HAEMATOPOIETIC AND LYMPHOID TISSUE c.4021C>T p.R1341* COSMIC NP NP 184 2026 HAEMATOPOIETIC AND LYMPHOID TISSUE c.4022G>A p.R1341Q COSMIC PASSENGER/OTHER Probably Damaging 185 2040 HAEMATOPOIETIC AND LYMPHOID TISSUE c.3959A>G p.K1320R COSMIC PASSENGER/OTHER Probably Damaging 186 2040 HAEMATOPOIETIC AND LYMPHOID TISSUE c.3967A>T p.K1323* COSMIC NP NP 187 2062 HAEMATOPOIETIC AND LYMPHOID TISSUE c.4305T>A p.D1435E COSMIC CANCER Probably Damaging 188 2069 HAEMATOPOIETIC AND LYMPHOID TISSUE c.4707_4708insGCACT p.A1571fs*66 COSMIC NP NP 189 2106 HAEMATOPOIETIC AND LYMPHOID TISSUE c.3517C>T p.R1173* COSMIC NP NP 190 2108 HAEMATOPOIETIC AND LYMPHOID TISSUE c.3158C>T p.P1053L COSMIC PASSENGER/OTHER Benign 191 2109 HAEMATOPOIETIC AND LYMPHOID TISSUE c.4508A>T p.Y1503F COSMIC CANCER Probably Damaging 192 2109 HAEMATOPOIETIC AND LYMPHOID TISSUE c.5035_5037delTCC p.S1680delS COSMIC NP NP 193 2126 HAEMATOPOIETIC AND LYMPHOID TISSUE c.4337G>T p.R1446L COSMIC PASSENGER/OTHER Probably Damaging 194 2134 HAEMATOPOIETIC AND LYMPHOID TISSUE c.4444T>C p.Y1482H COSMIC CANCER Probably Damaging 195 2152 HAEMATOPOIETIC AND LYMPHOID TISSUE c.286C>T p.Q96* COSMIC NP NP 196 2161 HAEMATOPOIETIC AND LYMPHOID TISSUE c.466C>T p.Q156* COSMIC NP NP 197 2170 HAEMATOPOIETIC AND LYMPHOID TISSUE c.3301_3302ins41 p.L1101fs*12 COSMIC NP NP 198 2179 HAEMATOPOIETIC AND LYMPHOID TISSUE c.2254C>T p.Q752* COSMIC NP NP 199 2183 HAEMATOPOIETIC AND LYMPHOID TISSUE c.1334_1335insCCAT p.L446fs*7 COSMIC NP NP 200 2191 HAEMATOPOIETIC AND LYMPHOID TISSUE c.5035_5037delTCC p.S1680delS COSMIC NP NP 201 2209 HAEMATOPOIETIC AND LYMPHOID TISSUE c.223C>T p.R75* COSMIC NP NP 202 22T SKIN c.2126C>T p.S709F COSMIC PASSENGER/OTHER Probably Damaging 203 2334202 LUNG c.5470G>A p.A1824T COSMIC PASSENGER/OTHER Probably Damaging 204 33t HAEMATOPOIETIC AND LYMPHOID TISSUE c.4507T>G p.Y1503D COSMIC CANCER Probably Damaging 205 3492 LARGE INTESTINE c.4358T>A p.I1453N COSMIC CANCER Probably Damaging 206 34t HAEMATOPOIETIC AND LYMPHOID TISSUE c.4427C>G p.P1476R COSMIC CANCER Probably Damaging 207 380 HAEMATOPOIETIC AND LYMPHOID TISSUE c.5933A>G p.N1978S COSMIC PASSENGER/OTHER Benign 208 587222 LARGE INTESTINE c.1238G>A p.R413Q COSMIC CANCER Probably Damaging 209 587222 LARGE INTESTINE c.2224C>T p.R742C COSMIC PASSENGER/OTHER Probably Damaging 210 587224 LARGE INTESTINE c.6310C>T p.R2104C COSMIC CANCER Probably Damaging 211 587228 LARGE INTESTINE c.5891G>A p.R1964H COSMIC PASSENGER/OTHER Possibly Damaging 212 587238 LARGE INTESTINE c.3250delA p.I1084fs*15 COSMIC NP NP 213 587238 LARGE INTESTINE c.6596A>T p.Q2199L COSMIC PASSENGER/OTHER Benign 214 587256 LARGE INTESTINE c.5344G>A p.A1782T COSMIC CANCER Probably Damaging 215 587256 LARGE INTESTINE c.5720C>T p.A1907V COSMIC PASSENGER/OTHER Benign 216 587284 LARGE INTESTINE c.4990C>T p.R1664C COSMIC CANCER Probably Damaging 217 587342 LARGE INTESTINE c.6154C>T p.R2052W COSMIC PASSENGER/OTHER Probably Damaging 218 587376 LARGE INTESTINE c.1855G>A p.A619T COSMIC PASSENGER/OTHER Probably Damaging 219 587382 LARGE INTESTINE c.7037C>T p.P2346L COSMIC PASSENGER/OTHER Probably Damaging 220 671204 NS c.1187C>G p.T396R COSMIC PASSENGER/OTHER Probably Damaging 221 745 HAEMATOPOIETIC AND LYMPHOID TISSUE c.5038_5039insT p.S1680fs*55 COSMIC NP NP 222 8014753 PANCREAS c.2950A>C p.N984H COSMIC PASSENGER/OTHER Benign 223 8030137 PANCREAS c.1216G>C p.V406L COSMIC PASSENGER/OTHER Probably Damaging 224 851 HAEMATOPOIETIC AND LYMPHOID TISSUE c.4991G>T p.R1664L COSMIC CANCER Probably Damaging 225 86564 LUNG c.3546A>G p.A1182A COSMIC NP NP 226 9906_122 HAEMATOPOIETIC AND LYMPHOID TISSUE c.5712G>C p.Q1904H COSMIC PASSENGER/OTHER Probably Damaging 227 9906_124 HAEMATOPOIETIC AND LYMPHOID TISSUE c.5367C>A p.N1789K COSMIC PASSENGER/OTHER Probably Damaging 228 9906_129 HAEMATOPOIETIC AND LYMPHOID TISSUE c.4336C>T p.R1446C COSMIC CANCER Probably Damaging 229 9T SKIN c.1689C>G p.N563K COSMIC PASSENGER/OTHER Probably Damaging 230 B105 URINARY TRACT c.3517C>T p.R1173* COSMIC NP NP 231 B109 URINARY TRACT c.4336C>G p.R1446G COSMIC CANCER Probably Damaging 232 B110 BREAST c.286C>T p.Q96* COSMIC NP NP 233 B110 BREAST c.5932A>G p.N1978D COSMIC PASSENGER/OTHER Benign 234 B13 URINARY TRACT c.3874C>T p.Q1292* COSMIC NP NP 235 B37 URINARY TRACT c.310C>T p.Q104* COSMIC NP NP 236 B5 ENDOMETRIUM c.1063C>T p.Q355* COSMIC NP NP 237 B59 URINARY TRACT c.3217C>T p.Q1073* COSMIC NP NP 238 B62-0 URINARY TRACT c.3323C>A p.S1108* COSMIC NP NP 239 B63 URINARY TRACT c.4506G>T p.W1502C COSMIC CANCER Probably Damaging 240 B66 URINARY TRACT c.3689A>G p.Y1230C COSMIC PASSENGER/OTHER Probably Damaging 241 B66 URINARY TRACT c.6983C>T p.S2328L COSMIC PASSENGER/OTHER Benign 242 B80-13 URINARY TRACT c.2515C>T p.Q839* COSMIC NP NP 243 B89-1 URINARY TRACT c.1890_1893delAGCC p.A631fs*23 COSMIC NP NP 244 B89-4 URINARY TRACT c.1258A>T p.K420* COSMIC NP NP 245 BN26T LIVER c.4506G>T p.W1502C COSMIC CANCER Probably Damaging 246 BOR HAEMATOPOIETIC AND LYMPHOID TISSUE c.4337G>A p.R1446H COSMIC CANCER Probably Damaging 247 BOR HAEMATOPOIETIC AND LYMPHOID TISSUE c.4506G>T p.W1502C COSMIC CANCER Probably Damaging 248 BT0167 BREAST c.2678C>T p.S893L COSMIC PASSENGER/OTHER Probably Damaging 249 BV-173 HAEMATOPOIETIC AND LYMPHOID TISSUE c.4873A>T p.M1625L COSMIC PASSENGER/OTHER Possibly Damaging 250 CLL067 HAEMATOPOIETIC AND LYMPHOID TISSUE c.6952C>G p.Q2318E COSMIC PASSENGER/OTHER Benign 251 CLL103 HAEMATOPOIETIC AND LYMPHOID TISSUE c.35C>A p.P12H COSMIC PASSENGER/OTHER Probably Damaging 252 CLL44 HAEMATOPOIETIC AND LYMPHOID TISSUE c.4865A>G p.Y1622C COSMIC PASSENGER/OTHER Probably Damaging 253 CP66-MEL SKIN c.2809C>T p.P937S COSMIC PASSENGER/OTHER Benign 254 DLBCL-PatientL HAEMATOPOIETIC AND LYMPHOID TISSUE c.3310C>T p.Q1104* COSMIC NP NP 255 DLBCL701 HAEMATOPOIETIC AND LYMPHOID TISSUE c.4309A>T p.I1437F COSMIC PASSENGER/OTHER Probably Damaging 256 DLBCL827 HAEMATOPOIETIC AND LYMPHOID TISSUE c.4336C>T p.R1446C COSMIC CANCER Probably Damaging 257 DLBCL832 HAEMATOPOIETIC AND LYMPHOID TISSUE c.4508A>T p.Y1503F COSMIC CANCER Probably Damaging 258 DND-41 HAEMATOPOIETIC AND LYMPHOID TISSUE c.3710G>A p.C1237Y COSMIC CANCER Probably Damaging 259 ESO-0009 OESOPHAGUS c.4209C>T p.D1403D COSMIC NP NP 260 ESO-1481 OESOPHAGUS c.6452G>A p.R2151Q COSMIC PASSENGER/OTHER Benign 261 ESO-251 OESOPHAGUS c.6727G>A p.A2243T COSMIC PASSENGER/OTHER Benign 262 ESO-632 OESOPHAGUS c.2528T>A p.L843Q COSMIC PASSENGER/OTHER Probably Damaging 263 ESOSCC164T OESOPHAGUS c.4807G>T p.A1603S COSMIC PASSENGER/OTHER Probably Damaging 264 FARAGE HAEMATOPOIETIC AND LYMPHOID TISSUE c.3237G>T p.Q1079H COSMIC PASSENGER/OTHER Probably Damaging 265 FL-PatientA HAEMATOPOIETIC AND LYMPHOID TISSUE c.3034G>A p.E1012K COSMIC PASSENGER/OTHER Benign 266 FL-PatientA HAEMATOPOIETIC AND LYMPHOID TISSUE c.4444T>C p.Y1482H COSMIC CANCER Probably Damaging 267 FL012 HAEMATOPOIETIC AND LYMPHOID TISSUE c.4307G>A p.S1436N COSMIC CANCER Probably Damaging 268 FL15 HAEMATOPOIETIC AND LYMPHOID TISSUE c.4337G>T p.R1446L COSMIC PASSENGER/OTHER Probably Damaging 269 FL17 HAEMATOPOIETIC AND LYMPHOID TISSUE c.3702T>G p.Y1234* COSMIC NP NP 270 FL22 HAEMATOPOIETIC AND LYMPHOID TISSUE c.4304A>G p.D1435G COSMIC CANCER Probably Damaging 271 FL25 HAEMATOPOIETIC AND LYMPHOID TISSUE c.4448T>G p.I1483S COSMIC CANCER Probably Damaging 272 FL26 HAEMATOPOIETIC AND LYMPHOID TISSUE c.5035_5037delTCC p.S1680delS COSMIC NP NP 273 FL28 HAEMATOPOIETIC AND LYMPHOID TISSUE c.4336C>T p.R1446C COSMIC CANCER Probably Damaging 274 FL6 HAEMATOPOIETIC AND LYMPHOID TISSUE c.4336C>T p.R1446C COSMIC CANCER Probably Damaging 275 FL7 HAEMATOPOIETIC AND LYMPHOID TISSUE c.3375T>A p.Y1125* COSMIC NP NP 276 FL8 HAEMATOPOIETIC AND LYMPHOID TISSUE c.4301T>C p.L1434P COSMIC CANCER Probably Damaging 277 GC8_T STOMACH c.2784G>A p.P928P COSMIC NP NP 278 GC8_T STOMACH c.3900C>A p.I1300I COSMIC NP NP 279 GLC2 LUNG c.5140G>T p.V1714L COSMIC PASSENGER/OTHER Probably Damaging 280 H1048 LUNG c.5035_5037delTCC p.S1680delS COSMIC NP NP 281 H1703 LUNG c.4416G>T p.W1472C COSMIC CANCER Probably Damaging 282 H322T LUNG c.2678C>T p.S893L COSMIC PASSENGER/OTHER Probably Damaging 283 HCC35T LIVER c.1647_1654delAGCTCTTC p.A550fs*18 COSMIC NP NP 284 HCC49T LIVER c.234C>T p.S78S COSMIC NP NP 285 HCC53T LIVER c.1460C>A p.A487D COSMIC PASSENGER/OTHER Probably Damaging 286 HCC70T LIVER c.4336C>T p.R1446C COSMIC CANCER Probably Damaging 287 HCT-15 LARGE INTESTINE c.3449C>A p.P1150H COSMIC PASSENGER/OTHER Probably Damaging 288 HN_62506 UPPER AERODIGESTIVE TRACT c.4337G>A p.R1446H COSMIC CANCER Probably Damaging 289 HN_62739 UPPER AERODIGESTIVE TRACT c.4561G>T p.D1521Y COSMIC CANCER Probably Damaging 290 HN_62740 UPPER AERODIGESTIVE TRACT c.1507C>T p.Q503* COSMIC NP NP 291 HN_62814 UPPER AERODIGESTIVE TRACT c.2849C>T p.T950M COSMIC PASSENGER/OTHER Probably Damaging 292 HN_62897 UPPER AERODIGESTIVE TRACT c.760G>C p.A254P COSMIC PASSENGER/OTHER Probably Damaging 293 ICGC_0034 PANCREAS c.2950A>C p.N984H COSMIC PASSENGER/OTHER Benign 294 ICGC_0060 PANCREAS c.1216G>C p.V406L COSMIC PASSENGER/OTHER Probably Damaging 295 IGROV-1 OVARY c.3478A>G p.M1160V COSMIC PASSENGER/OTHER Benign 296 Jurkat HAEMATOPOIETIC AND LYMPHOID TISSUE c.4071delT p.F1358fs*18 COSMIC NP NP 297 K116 KIDNEY c.5418G>C p.K1806N COSMIC PASSENGER/OTHER Probably Damaging 298 KM12 LARGE INTESTINE c.4990C>T p.R1664C COSMIC CANCER Probably Damaging 299 KOPT-K1 HAEMATOPOIETIC AND LYMPHOID TISSUE c.2141G>A p.R714H COSMIC PASSENGER/OTHER Probably Damaging 300 KOPT-K1 HAEMATOPOIETIC AND LYMPHOID TISSUE c.5065C>T p.L1689F COSMIC PASSENGER/OTHER Probably Damaging 301 Karpas422 HAEMATOPOIETIC AND LYMPHOID TISSUE c.3712G>T p.E1238* COSMIC NP NP 302 LAU618 SKIN c.714G>C p.V238V COSMIC NP NP 303 LB2518-MEL SKIN c.5271C>T p.G1757G COSMIC NP NP 304 LC_S13 LUNG c.3883_3884insT p.L1296fs*4 COSMIC NP NP 305 LC_S25 LUNG c.4008C>G p.N1336K COSMIC PASSENGER/OTHER Possibly Damaging 306 LC_S3 LUNG c.2965G>T p.G989* COSMIC NP NP 307 LPJ021 HAEMATOPOIETIC AND LYMPHOID TISSUE c.4445A>G p.Y1482C COSMIC CANCER Probably Damaging 308 LPJ023 HAEMATOPOIETIC AND LYMPHOID TISSUE c.4337G>A p.R1446H COSMIC CANCER Probably Damaging 309 LPJ041 HAEMATOPOIETIC AND LYMPHOID TISSUE c.4303G>A p.D1435N COSMIC CANCER Probably Damaging 310 LPJ103 HAEMATOPOIETIC AND LYMPHOID TISSUE c.4305T>A p.D1435E COSMIC CANCER Probably Damaging 311 LPJ108 HAEMATOPOIETIC AND LYMPHOID TISSUE c.4337G>A p.R1446H COSMIC CANCER Probably Damaging 312 LPJ128 HAEMATOPOIETIC AND LYMPHOID TISSUE c.4414T>G p.W1472G COSMIC CANCER Probably Damaging 313 LUAD-B00416 LUNG c.7285G>T p.D2429Y COSMIC PASSENGER/OTHER Probably Damaging 314 LUAD-B00523 LUNG c.6689A>G p.Q2230R COSMIC PASSENGER/OTHER Benign 315 LUAD-CHTN-Z4716A LUNG c.4198G>T p.E1400* COSMIC NP NP 316 LUAD-D01603 LUNG c.3147T>C p.D1049D COSMIC NP NP 317 LUAD-E00897 LUNG c.1844C>T p.T615I COSMIC PASSENGER/OTHER Probably Damaging 318 LUAD-NYU1210 LUNG c.4132C>T p.R1378W COSMIC CANCER Probably Damaging 319 LUAD-NYU408 LUNG c.4887_4888delGG p.E1630fs*29 COSMIC NP NP 320 LUAD-RT-S01702 LUNG c.1133G>A p.R378Q COSMIC PASSENGER/OTHER Probably Damaging 321 LUAD-RT-S01702 LUNG c.913A>G p.N305D COSMIC PASSENGER/OTHER Probably Damaging 322 LUAD-RT-S01818 LUNG c.5603G>T p.R1868L COSMIC CANCER Probably Damaging 323 LUAD-RT-S01832 LUNG c.424G>C p.G142R COSMIC PASSENGER/OTHER Probably Damaging 324 LUAD-S01302 LUNG c.2510G>T p.G837V COSMIC PASSENGER/OTHER Probably Damaging 325 LUAD-S01345 LUNG c.2499C>G p.L833L COSMIC NP NP 326 LUAD-S01357 LUNG c.3044G>T p.G1015V COSMIC PASSENGER/OTHER Benign 327 LUAD-S01409 LUNG c.3452G>T p.W1151L COSMIC PASSENGER/OTHER Probably Damaging 328 LUAD_E00522 LUNG c.4648G>C p.E1550Q COSMIC CANCER Probably Damaging 329 M-07e HAEMATOPOIETIC AND LYMPHOID TISSUE c.6624A>C p.Q2208H COSMIC PASSENGER/OTHER Probably Damaging 330 MBRep_T56 CENTRAL NERVOUS SYSTEM c.4336C>T p.R1446C COSMIC CANCER Probably Damaging 331 MD-325 CENTRAL NERVOUS SYSTEM c.4337G>T p.R1446L COSMIC PASSENGER/OTHER Probably Damaging 332 ME100L SKIN c.7088C>T p.P2363L COSMIC CANCER Probably Damaging 333 MKB-1 HAEMATOPOIETIC AND LYMPHOID TISSUE c.2064delG p.A690fs*5 COSMIC NP NP 334 MKB-1 HAEMATOPOIETIC AND LYMPHOID TISSUE c.6418C>T p.Q2140* COSMIC NP NP 335 MKB-1 HAEMATOPOIETIC AND LYMPHOID TISSUE c.7105C>A p.P2369T COSMIC CANCER Probably Damaging 336 MKB-1 HAEMATOPOIETIC AND LYMPHOID TISSUE c.760G>A p.A254T COSMIC PASSENGER/OTHER Possibly Damaging 337 ML-2 HAEMATOPOIETIC AND LYMPHOID TISSUE c.3269T>A p.L1090* COSMIC NP NP 338 MN-296 MENINGES c.2491_2497delAACCCTC p.N831fs*16 COSMIC NP NP 339 MOLT-4 HAEMATOPOIETIC AND LYMPHOID TISSUE c.1171G>A p.V391I COSMIC CANCER Probably Damaging 340 NB07C AUTONOMIC GANGLIA c.4681G>T p.E1561* COSMIC NP NP 341 NBL5 AUTONOMIC GANGLIA c.4094C>A p.S1365* COSMIC NP NP 342 NCI-ADR-RES OVARY c.2678C>A p.S893* COSMIC NP NP 343 NCI-H2122 LUNG c.248A>C p.N83T COSMIC PASSENGER/OTHER Benign 344 NCI-H322M LUNG c.2678C>T p.S893L COSMIC PASSENGER/OTHER Probably Damaging 345 NU-DHL-1 HAEMATOPOIETIC AND LYMPHOID TISSUE c.1307C>T p.A436V COSMIC PASSENGER/OTHER Possibly Damaging 346 NU-DHL-1 HAEMATOPOIETIC AND LYMPHOID TISSUE c.508C>T p.Q170* COSMIC NP NP 347 OCI-Ly1 HAEMATOPOIETIC AND LYMPHOID TISSUE c.1718delC p.L574fs*15 COSMIC NP NP 348 OCI-Ly8 HAEMATOPOIETIC AND LYMPHOID TISSUE c.3301_3302delCT p.L1101fs*26 COSMIC NP NP 349 OCI-Ly8 HAEMATOPOIETIC AND LYMPHOID TISSUE c.3718T>C p.C1240R COSMIC CANCER Probably Damaging 350 OVCAR-5 OVARY c.3211G>A p.A1071T COSMIC PASSENGER/OTHER Benign 351 OVCAR-8 OVARY c.2678C>A p.S893* COSMIC NP NP 352 OVCAR5 OVARY c.3211G>A p.A1071T COSMIC PASSENGER/OTHER Benign 353 PA122 PANCREAS c.1491G>A p.Q497Q COSMIC NP NP 354 PD3186a NS c.4336C>T p.R1446C COSMIC CANCER Probably Damaging 355 PD3195a NS c.4051delC p.H1351fs*25 COSMIC NP NP 356 PD4132a BREAST c.4686G>A p.E1562E COSMIC NP NP 357 PR-00-1165 PROSTATE c.6984G>A p.S2328S COSMIC NP NP 358 PR-02-2072 PROSTATE c.759C>T p.H253H COSMIC NP NP 359 PR-09-5094 PROSTATE c.3461T>C p.V1154A COSMIC PASSENGER/OTHER Probably Damaging 360 Pa14C PANCREAS c.6841G>A p.A2281T COSMIC PASSENGER/OTHER Benign 361 Pfieffer HAEMATOPOIETIC AND LYMPHOID TISSUE c.4471C>A p.Q1491K COSMIC PASSENGER/OTHER Probably Damaging 362 REX HAEMATOPOIETIC AND LYMPHOID TISSUE c.3246delA p.I1084fs*15 COSMIC NP NP 363 REX HAEMATOPOIETIC AND LYMPHOID TISSUE c.4071delT p.F1358fs*18 COSMIC NP NP 364 RIVA HAEMATOPOIETIC AND LYMPHOID TISSUE c.4078C>T p.R1360* COSMIC NP NP 365 RK148_C01 LIVER c.576C>G p.N192K COSMIC PASSENGER/OTHER Possibly Damaging 366 RPMI-8402 HAEMATOPOIETIC AND LYMPHOID TISSUE c.6938C>T p.P2313L COSMIC PASSENGER/OTHER Probably Damaging 367 S00538 LUNG c.4179C>G p.T1393T COSMIC NP NP 368 S00539 LUNG c.3697A>T p.R1233W COSMIC PASSENGER/OTHER Probably Damaging 369 S00935 LUNG c.4471_4473delCAA p.Q1491delQ COSMIC NP NP 370 S01023 LUNG c.4232G>T p.G1411V COSMIC CANCER Probably Damaging 371 S01728 LUNG c.1157_1158insCATTGTCG p.T387fs*5 COSMIC NP NP 372 SA214 BREAST c.3242G>A p.R1081H COSMIC PASSENGER/OTHER Benign 373 SA214 BREAST c.3334C>T p.R1112W COSMIC PASSENGER/OTHER Probably Damaging 374 SCI-1 HAEMATOPOIETIC AND LYMPHOID TISSUE c.4508A>T p.Y1503F COSMIC CANCER Probably Damaging 375 SE2 LARGE INTESTINE c.7089G>A p.P2363P COSMIC NP NP 376 SJMB028 CENTRAL NERVOUS SYSTEM c.1447C>T p.R483* COSMIC NP NP 377 SJMB129 CENTRAL NERVOUS SYSTEM c.1621C>T p.Q541* COSMIC NP NP 378 SK00102_M CENTRAL NERVOUS SYSTEM c.4021C>T p.R1341* COSMIC NP NP 379 SK00102_P CENTRAL NERVOUS SYSTEM c.4021C>T p.R1341* COSMIC NP NP 380 SPEC1187 HAEMATOPOIETIC AND LYMPHOID TISSUE c.4444T>A p.Y1482N COSMIC CANCER Probably Damaging 381 SUDHL10 HAEMATOPOIETIC AND LYMPHOID TISSUE c.5831delC p.P1946fs*30 COSMIC NP NP 382 SUDHL6 HAEMATOPOIETIC AND LYMPHOID TISSUE c.1407delT p.L470fs*1 COSMIC NP NP 383 SUDHL7 HAEMATOPOIETIC AND LYMPHOID TISSUE c.4349A>G p.Y1450C COSMIC CANCER Probably Damaging 384 SUDHL7 HAEMATOPOIETIC AND LYMPHOID TISSUE c.5035_5037delTCC p.S1680delS COSMIC NP NP 385 TCGA-04-1338-01 OVARY c.4135T>G p.F1379V COSMIC PASSENGER/OTHER Probably Damaging 386 TCGA-04-1350-01 OVARY c.2650G>A p.A884T COSMIC PASSENGER/OTHER Benign 387 TCGA-04-1525-01 OVARY c.2978delC p.P993fs*5 COSMIC NP NP 388 TCGA-05-4250-01 LUNG c.520G>C p.G174R COSMIC PASSENGER/OTHER Probably Damaging 389 TCGA-05-4426-01 LUNG c.5266C>T p.Q1756* COSMIC NP NP 390 TCGA-09-2049-01 OVARY c.4401G>C p.V1467V COSMIC NP NP 391 TCGA-13-0724-01 OVARY c.2509_2515delGGGCCTC p.G837fs*10 COSMIC NP NP 392 TCGA-18-3407-01 LUNG c.4223G>A p.C1408Y COSMIC CANCER Probably Damaging 393 TCGA-18-3408-01 LUNG c.3419G>A p.R1140Q COSMIC PASSENGER/OTHER Probably Damaging 394 TCGA-18-3411-01 LUNG c.170G>T p.G57V COSMIC PASSENGER/OTHER Possibly Damaging 395 TCGA-18-3412-01 LUNG c.7152C>A p.H2384Q COSMIC PASSENGER/OTHER Probably Damaging 396 TCGA-18-3419-01 LUNG c.6989T>G p.L2330R COSMIC PASSENGER/OTHER Probably Damaging 397 TCGA-21-1078-01 LUNG c.4336C>T p.R1446C COSMIC CANCER Probably Damaging 398 TCGA-21-1081-01 LUNG c.2827C>T p.Q943* COSMIC NP NP 399 TCGA-21-1081-01 LUNG c.3893A>G p.Y1298C COSMIC PASSENGER/OTHER Probably Damaging 400 TCGA-24-0966-01 OVARY c.4013T>C p.L1338S COSMIC CANCER Probably Damaging 401 TCGA-25-1631-01 OVARY c.4021C>T p.R1341* COSMIC NP NP 402 TCGA-29-1699-01 OVARY c.858G>T p.Q286H COSMIC PASSENGER/OTHER Probably Damaging 403 TCGA-29-1705-01 OVARY c.1170C>G p.N390K COSMIC PASSENGER/OTHER Probably Damaging 404 TCGA-31-1950-01 OVARY c.4358T>C p.I1453T COSMIC PASSENGER/OTHER Probably Damaging 405 TCGA-33-4532-01 LUNG c.4348T>G p.Y1450D COSMIC CANCER Probably Damaging 406 TCGA-34-2600-01 LUNG c.1507C>T p.Q503* COSMIC NP NP 407 TCGA-34-2600-01 LUNG c.1810C>T p.L604L COSMIC NP NP 408 TCGA-39-5031-01 LUNG c.5300C>T p.S1767L COSMIC PASSENGER/OTHER Possibly Damaging 409 TCGA-39-5031-01 LUNG c.6943A>T p.S2315C COSMIC CANCER Probably Damaging 410 TCGA-43-5668-01 LUNG c.682A>G p.T228A COSMIC PASSENGER/OTHER Benign 411 TCGA-44-2656-01 LUNG c.824C>A p.P275Q COSMIC PASSENGER/OTHER Probably Damaging 412 TCGA-44-7670-01 LUNG c.7201G>T p.G2401W COSMIC PASSENGER/OTHER Probably Damaging 413 TCGA-46-3767-01 LUNG c.1464C>A p.L488L COSMIC NP NP 414 TCGA-46-6025-01 LUNG c.2441C>T p.P814L COSMIC PASSENGER/OTHER Benign 415 TCGA-50-5939-01 LUNG c.3206G>A p.G1069D COSMIC PASSENGER/OTHER Possibly Damaging 416 TCGA-55-7283-01 LUNG c.3153G>C p.K1051N COSMIC PASSENGER/OTHER Possibly Damaging 417 TCGA-55-7726-01 LUNG c.4246G>C p.E1416Q COSMIC CANCER Probably Damaging 418 TCGA-55-7726-01 LUNG c.5170G>A p.E1724K COSMIC PASSENGER/OTHER Probably Damaging 419 TCGA-55-8089-01 LUNG c.5624G>T p.R1875L COSMIC PASSENGER/OTHER Probably Damaging 420 TCGA-60-2719-01 LUNG c.2103G>A p.V701V COSMIC NP NP 421 TCGA-66-2742-01 LUNG c.2331T>C p.G777G COSMIC NP NP 422 TCGA-66-2793-01 LUNG c.4303G>T p.D1435Y COSMIC CANCER Probably Damaging 423 TCGA-66-2795-01 LUNG c.1847C>G p.P616R COSMIC PASSENGER/OTHER Probably Damaging 424 TCGA-75-6214-01 LUNG c.4101G>C p.K1367N COSMIC CANCER Probably Damaging 425 TCGA-78-7155-01 LUNG c.408G>T p.Q136H COSMIC PASSENGER/OTHER Probably Damaging 426 TCGA-78-7158-01 LUNG c.903G>T p.Q301H COSMIC PASSENGER/OTHER Probably Damaging 427 TCGA-78-7220-01 LUNG c.6106C>G p.P2036A COSMIC PASSENGER/OTHER Benign 428 TCGA-78-7220-01 LUNG c.6130G>T p.A2044S COSMIC PASSENGER/OTHER Benign 429 TCGA-85-6561-01 LUNG c.1148C>G p.P383R COSMIC PASSENGER/OTHER Probably Damaging 430 TCGA-91-6830-01 LUNG c.5129G>C p.C1710S COSMIC CANCER Probably Damaging 431 TCGA-99-8033-01 LUNG c.5269G>T p.G1757C COSMIC PASSENGER/OTHER Probably Damaging 432 TCGA-A2-A1G1-01 BREAST c.2114A>G p.N705S COSMIC PASSENGER/OTHER Possibly Damaging 433 TCGA-A3-3316-01 KIDNEY c.2686G>A p.G896R COSMIC PASSENGER/OTHER Probably Damaging 434 TCGA-A5-A0G9-01 ENDOMETRIUM c.775G>A p.A259T COSMIC PASSENGER/OTHER Probably Damaging 435 TCGA-A5-A0GA-01 ENDOMETRIUM c.1103_1104insA p.R369fs*58 COSMIC NP NP 436 TCGA-A6-2671-01 LARGE INTESTINE c.4078C>A p.R1360R COSMIC NP NP 437 TCGA-A6-2672-01 LARGE INTESTINE c.666T>C p.A222A COSMIC NP NP 438 TCGA-A6-5665-01 LARGE INTESTINE c.5204C>T p.T1735M COSMIC PASSENGER/OTHER Probably Damaging 439 TCGA-A6-6138-01 LARGE INTESTINE c.4689G>A p.R1563R COSMIC NP NP 440 TCGA-A6-6649-01 LARGE INTESTINE c.3268T>C p.L1090L COSMIC NP NP 441 TCGA-A6-6653-01 LARGE INTESTINE c.3519A>G p.R1173R COSMIC NP NP 442 TCGA-A6-6654-01 LARGE INTESTINE c.3960A>G p.K1320K COSMIC NP NP 443 TCGA-A6-6781-01 LARGE INTESTINE c.6072G>A p.A2024A COSMIC NP NP 444 TCGA-A8-A097-01 BREAST c.5406G>C p.V1802V COSMIC NP NP 445 TCGA-AA-3510-01 LARGE INTESTINE c.3505C>T p.R1169C COSMIC PASSENGER/OTHER Probably Damaging 446 TCGA-AA-3516-01 LARGE INTESTINE c.4951G>A p.D1651N COSMIC CANCER Benign 447 TCGA-AA-3518-01 LARGE INTESTINE c.4822C>T p.P1608S COSMIC PASSENGER/OTHER Possibly Damaging 448 TCGA-AA-3525-01 LARGE INTESTINE c.5039_5041delCCT p.S1680delS COSMIC NP NP 449 TCGA-AA-3660-01 LARGE INTESTINE c.3517C>A p.R1173R COSMIC NP NP 450 TCGA-AA-3662-01 LARGE INTESTINE c.2678C>T p.S893L COSMIC PASSENGER/OTHER Probably Damaging 451 TCGA-AA-3662-01 LARGE INTESTINE c.3269T>C p.L1090S COSMIC PASSENGER/OTHER Probably Damaging 452 TCGA-AA-3662-01 LARGE INTESTINE c.4078C>A p.R1360R COSMIC NP NP 453 TCGA-AA-3672-01 LARGE INTESTINE c.6215G>A p.R2072Q COSMIC PASSENGER/OTHER Probably Damaging 454 TCGA-AA-3695-01 LARGE INTESTINE c.2178C>T p.P726P COSMIC NP NP 455 TCGA-AA-3713-01 LARGE INTESTINE c.4079G>A p.R1360Q COSMIC CANCER Probably Damaging 456 TCGA-AA-3713-01 LARGE INTESTINE c.466C>A p.Q156K COSMIC PASSENGER/OTHER Probably Damaging 457 TCGA-AA-3715-01 LARGE INTESTINE c.5087A>G p.H1696R COSMIC PASSENGER/OTHER Probably Damaging 458 TCGA-AA-3715-01 LARGE INTESTINE c.5219A>G p.H1740R COSMIC PASSENGER/OTHER Probably Damaging 459 TCGA-AA-3811-01 LARGE INTESTINE c.2308C>T p.P770S COSMIC PASSENGER/OTHER Benign 460 TCGA-AA-3815-01 LARGE INTESTINE c.4813A>G p.K1605E COSMIC PASSENGER/OTHER Probably Damaging 461 TCGA-AA-3818-01 LARGE INTESTINE c.5424C>A p.C1808* COSMIC NP NP 462 TCGA-AA-3864-01 LARGE INTESTINE c.5048G>A p.R1683H COSMIC CANCER Probably Damaging 463 TCGA-AA-3877-01 LARGE INTESTINE c.2278C>T p.P760S COSMIC PASSENGER/OTHER Possibly Damaging 464 TCGA-AA-3947-01 LARGE INTESTINE c.4063G>A p.G1355R COSMIC PASSENGER/OTHER Probably Damaging 465 TCGA-AA-3966-01 LARGE INTESTINE c.2516A>G p.Q839R COSMIC PASSENGER/OTHER Possibly Damaging 466 TCGA-AA-3973-01 LARGE INTESTINE c.4870A>C p.T1624P COSMIC PASSENGER/OTHER Probably Damaging 467 TCGA-AA-3984-01 LARGE INTESTINE c.1319G>A p.R440Q COSMIC PASSENGER/OTHER Probably Damaging 468 TCGA-AA-3984-01 LARGE INTESTINE c.1950T>G p.Y650* COSMIC NP NP 469 TCGA-AA-3984-01 LARGE INTESTINE c.661G>A p.G221R COSMIC PASSENGER/OTHER Probably Damaging 470 TCGA-AA-A00E-01 LARGE INTESTINE c.3361G>T p.G1121* COSMIC NP NP 471 TCGA-AA-A010-01 LARGE INTESTINE c.270C>T p.S90S COSMIC NP NP 472 TCGA-AA-A010-01 LARGE INTESTINE c.4166T>C p.F1389S COSMIC PASSENGER/OTHER Probably Damaging 473 TCGA-AA-A010-01 LARGE INTESTINE c.4840T>C p.S1614P COSMIC PASSENGER/OTHER Possibly Damaging 474 TCGA-AA-A01Z-01 LARGE INTESTINE c.4893C>A p.V1631V COSMIC NP NP 475 TCGA-AA-A022-01 LARGE INTESTINE c.5514C>T p.C1838C COSMIC NP NP 476 TCGA-AA-A022-01 LARGE INTESTINE c.6451C>T p.R2151W COSMIC PASSENGER/OTHER Probably Damaging 477 TCGA-AA-A029-01 LARGE INTESTINE c.4021C>T p.R1341* COSMIC NP NP 478 TCGA-AD-5900-01 LARGE INTESTINE c.7231delC p.Q2411fs*2 COSMIC NP NP 479 TCGA-AD-6963-01 LARGE INTESTINE c.3960A>G p.K1320K COSMIC NP NP 480 TCGA-AD-6963-01 LARGE INTESTINE c.760G>A p.A254T COSMIC PASSENGER/OTHER Possibly Damaging 481 TCGA-AF-6672-01 LARGE INTESTINE c.5661A>G p.S1887S COSMIC NP NP 482 TCGA-AG-3731-01 LARGE INTESTINE c.4336C>A p.R1446S COSMIC PASSENGER/OTHER Probably Damaging 483 TCGA-AG-A002-01 LARGE INTESTINE c.236G>T p.G79V COSMIC PASSENGER/OTHER Probably Damaging 484 TCGA-AG-A002-01 LARGE INTESTINE c.321G>A p.P107P COSMIC NP NP 485 TCGA-AG-A002-01 LARGE INTESTINE c.5470G>A p.A1824T COSMIC PASSENGER/OTHER Probably Damaging 486 TCGA-AG-A02N-01 LARGE INTESTINE c.2014C>T p.R672C COSMIC CANCER Probably Damaging 487 TCGA-AG-A02N-01 LARGE INTESTINE c.2748T>C p.P916P COSMIC NP NP 488 TCGA-AG-A02N-01 LARGE INTESTINE c.7030C>T p.R2344W COSMIC PASSENGER/OTHER Probably Damaging 489 TCGA-AH-6544-01 LARGE INTESTINE c.3236A>G p.Q1079R COSMIC PASSENGER/OTHER Probably Damaging 490 TCGA-AH-6549-01 LARGE INTESTINE c.4687A>G p.R1563G COSMIC PASSENGER/OTHER Probably Damaging 491 TCGA-AH-6643-01 LARGE INTESTINE c.4687A>G p.R1563G COSMIC PASSENGER/OTHER Probably Damaging 492 TCGA-AN-A0AT-01 BREAST c.2390_2391insA p.N797fs*35 COSMIC NP NP 493 TCGA-AP-A051-01 ENDOMETRIUM c.1874G>A p.R625H COSMIC CANCER Probably Damaging 494 TCGA-AP-A051-01 ENDOMETRIUM c.3737G>A p.G1246D COSMIC PASSENGER/OTHER Probably Damaging 495 TCGA-AP-A051-01 ENDOMETRIUM c.5044C>T p.R1682C COSMIC CANCER Probably Damaging 496 TCGA-AP-A054-01 ENDOMETRIUM c.4419delC p.C1474fs*76 COSMIC NP NP 497 TCGA-AP-A054-01 ENDOMETRIUM c.4483A>T p.K1495* COSMIC NP NP 498 TCGA-AP-A056-01 ENDOMETRIUM c.2708C>A p.P903H COSMIC PASSENGER/OTHER Probably Damaging 499 TCGA-AP-A056-01 ENDOMETRIUM c.4034T>G p.F1345C COSMIC PASSENGER/OTHER Probably Damaging 500 TCGA-AP-A059-01 ENDOMETRIUM c.2573C>T p.P858L COSMIC PASSENGER/OTHER Possibly Damaging 501 TCGA-AP-A059-01 ENDOMETRIUM c.3435G>A p.G1145G COSMIC NP NP 502 TCGA-AP-A059-01 ENDOMETRIUM c.4251C>A p.Y1417* COSMIC NP NP 503 TCGA-AP-A059-01 ENDOMETRIUM c.5124C>T p.N1708N COSMIC NP NP 504 TCGA-AP-A059-01 ENDOMETRIUM c.6424C>A p.L2142M COSMIC PASSENGER/OTHER Benign 505 TCGA-AP-A059-01 ENDOMETRIUM c.6949C>A p.Q2317K COSMIC CANCER Possibly Damaging 506 TCGA-AP-A059-01 ENDOMETRIUM c.732G>A p.T244T COSMIC NP NP 507 TCGA-AP-A0LG-01 ENDOMETRIUM c.1937G>A p.S646N COSMIC PASSENGER/OTHER Probably Damaging 508 TCGA-AP-A0LM-01 ENDOMETRIUM c.3321G>A p.E1107E COSMIC NP NP 509 TCGA-AP-A0LP-01 ENDOMETRIUM c.7192G>T p.G2398* COSMIC NP NP 510 TCGA-AU-3779-01 LARGE INTESTINE c.4498C>T p.Q1500* COSMIC NP NP 511 TCGA-AU-6004-01 LARGE INTESTINE c.5770G>A p.V1924M COSMIC PASSENGER/OTHER Benign 512 TCGA-AU-6004-01 LARGE INTESTINE c.6596A>T p.Q2199L COSMIC PASSENGER/OTHER Benign 513 TCGA-AX-A0J0-01 ENDOMETRIUM c.1612A>C p.T538P COSMIC PASSENGER/OTHER Benign 514 TCGA-AX-A0J1-01 ENDOMETRIUM c.6441T>G p.A2147A COSMIC NP NP 515 TCGA-AX-A0J1-01 ENDOMETRIUM c.732G>A p.T244T COSMIC NP NP 516 TCGA-AY-5543-01 LARGE INTESTINE c.4687A>G p.R1563G COSMIC PASSENGER/OTHER Probably Damaging 517 TCGA-AZ-4315-01 LARGE INTESTINE c.1801C>T p.R601W COSMIC CANCER Probably Damaging 518 TCGA-AZ-6599-01 LARGE INTESTINE c.356G>T p.G119V COSMIC PASSENGER/OTHER Possibly Damaging 519 TCGA-AZ-6601-01 LARGE INTESTINE c.2517G>T p.Q839H COSMIC PASSENGER/OTHER Benign 520 TCGA-B0-5706-01 KIDNEY c.878T>C p.V293A COSMIC PASSENGER/OTHER Probably Damaging 521 TCGA-B5-A0JS-01 ENDOMETRIUM c.1585A>G p.M529V COSMIC PASSENGER/OTHER Benign 522 TCGA-B5-A11N-01 ENDOMETRIUM c.6310C>T p.R2104C COSMIC CANCER Probably Damaging 523 TCGA-B5-A11Y-01 ENDOMETRIUM c.5344G>A p.A1782T COSMIC CANCER Probably Damaging 524 TCGA-B6-A1KF-01 BREAST c.4778C>A p.T1593N COSMIC PASSENGER/OTHER Probably Damaging 525 TCGA-B8-4621-01 KIDNEY c.977C>T p.S326F COSMIC PASSENGER/OTHER Probably Damaging 526 TCGA-BG-A0VT-01 ENDOMETRIUM c.4545C>G p.I1515M COSMIC CANCER Probably Damaging 527 TCGA-BG-A0VZ-01 ENDOMETRIUM c.2811G>A p.P937P COSMIC NP NP 528 TCGA-BG-A18B-01 ENDOMETRIUM c.4211G>T p.G1404V COSMIC CANCER Probably Damaging 529 TCGA-BH-A0W7-01 BREAST c.6303C>G p.I2101M COSMIC CANCER Probably Damaging 530 TCGA-BS-A0TA-01 ENDOMETRIUM c.4996G>A p.A1666T COSMIC PASSENGER/OTHER Possibly Damaging 531 TCGA-BS-A0TA-01 ENDOMETRIUM c.7089G>A p.P2363P COSMIC NP NP 532 TCGA-BS-A0TC-01 ENDOMETRIUM c.4317C>A p.F1439L COSMIC PASSENGER/OTHER Probably Damaging 533 TCGA-BS-A0UF-01 ENDOMETRIUM c.2140C>T p.R714C COSMIC PASSENGER/OTHER Probably Damaging 534 TCGA-BS-A0UF-01 ENDOMETRIUM c.3956G>A p.R1319Q COSMIC PASSENGER/OTHER Probably Damaging 535 TCGA-BT-A20O-01 URINARY TRACT c.3221C>G p.S1074* COSMIC NP NP 536 TCGA-BT-A20T-01 URINARY TRACT c.2499C>G p.L833L COSMIC NP NP 537 TCGA-BT-A20T-01 URINARY TRACT c.2659C>T p.Q887* COSMIC NP NP 538 TCGA-C4-A0F0-01 URINARY TRACT c.4307G>A p.S1436N COSMIC CANCER Probably Damaging 539 TCGA-C4-A0F1-01 URINARY TRACT c.4990C>T p.R1664C COSMIC CANCER Probably Damaging 540 TCGA-C8-A1HE-01 BREAST c.3271C>T p.R1091C COSMIC PASSENGER/OTHER Probably Damaging 541 TCGA-C8-A26V-01 BREAST c.7115C>T p.S2372L COSMIC CANCER Probably Damaging 542 TCGA-CA-6717-01 LARGE INTESTINE c.4687A>G p.R1563G COSMIC PASSENGER/OTHER Probably Damaging 543 TCGA-CH-5748-01 PROSTATE c.4455T>C p.H1485H COSMIC NP NP 544 TCGA-CH-5788-01 PROSTATE c.6795G>A p.A2265A COSMIC NP NP 545 TCGA-CK-4948-01 LARGE INTESTINE c.2677T>C p.S893P COSMIC PASSENGER/OTHER Benign 546 TCGA-CK-6746-01 LARGE INTESTINE c.4022G>T p.R1341L COSMIC PASSENGER/OTHER Probably Damaging 547 TCGA-CK-6746-01 LARGE INTESTINE c.4302G>T p.L1434L COSMIC NP NP 548 TCGA-CK-6748-01 LARGE INTESTINE c.5661A>G p.S1887S COSMIC NP NP 549 TCGA-CM-4743-01 LARGE INTESTINE c.3373T>C p.Y1125H COSMIC CANCER Possibly Damaging 550 TCGA-CM-4743-01 LARGE INTESTINE c.3517C>A p.R1173R COSMIC NP NP 551 TCGA-CM-4743-01 LARGE INTESTINE c.4445A>T p.Y1482F COSMIC CANCER Probably Damaging 552 TCGA-CM-5344-01 LARGE INTESTINE c.2811G>A p.P937P COSMIC NP NP 553 TCGA-CM-5344-01 LARGE INTESTINE c.4687A>G p.R1563G COSMIC PASSENGER/OTHER Probably Damaging 554 TCGA-CM-5349-01 LARGE INTESTINE c.2677T>C p.S893P COSMIC PASSENGER/OTHER Benign 555 TCGA-CM-5861-01 LARGE INTESTINE c.2255A>G p.Q752R COSMIC PASSENGER/OTHER Probably Damaging 556 TCGA-CM-6161-01 LARGE INTESTINE c.3159T>C p.P1053P COSMIC NP NP 557 TCGA-CM-6164-01 LARGE INTESTINE c.4507T>C p.Y1503H COSMIC CANCER Probably Damaging 558 TCGA-CM-6166-01 LARGE INTESTINE c.5064G>A p.T1688T COSMIC NP NP 559 TCGA-CM-6168-01 LARGE INTESTINE c.1429G>A p.D477N COSMIC PASSENGER/OTHER Probably Damaging 560 TCGA-CM-6171-01 LARGE INTESTINE c.4213G>A p.V1405M COSMIC CANCER Probably Damaging 561 TCGA-CM-6680-01 LARGE INTESTINE c.4874T>C p.M1625T COSMIC PASSENGER/OTHER Probably Damaging 562 TCGA-CZ-5453-01 KIDNEY c.4668A>G p.L1556L COSMIC NP NP 563 TCGA-D1-A0ZO-01 ENDOMETRIUM c.6871C>A p.L2291M COSMIC PASSENGER/OTHER Possibly Damaging 564 TCGA-D1-A103-01 ENDOMETRIUM c.4901T>C p.V1634A COSMIC PASSENGER/OTHER Probably Damaging 565 TCGA-D1-A103-01 ENDOMETRIUM c.6424C>A p.L2142M COSMIC PASSENGER/OTHER Benign 566 TCGA-D1-A15X-01 ENDOMETRIUM c.3114A>G p.I1038M COSMIC PASSENGER/OTHER Benign 567 TCGA-D1-A15X-01 ENDOMETRIUM c.5698C>G p.P1900A COSMIC PASSENGER/OTHER Probably Damaging 568 TCGA-D1-A167-01 ENDOMETRIUM c.2015G>A p.R672H COSMIC PASSENGER/OTHER Probably Damaging 569 TCGA-D1-A16D-01 ENDOMETRIUM c.4311T>G p.I1437M COSMIC PASSENGER/OTHER Probably Damaging 570 TCGA-D1-A16J-01 ENDOMETRIUM c.3299C>A p.A1100E COSMIC PASSENGER/OTHER Probably Damaging 571 TCGA-D1-A177-01 ENDOMETRIUM c.6281C>T p.P2094L COSMIC CANCER Probably Damaging 572 TCGA-D1-A17Q-01 ENDOMETRIUM c.2294C>A p.S765Y COSMIC PASSENGER/OTHER Probably Damaging 573 TCGA-D5-5537-01 LARGE INTESTINE c.3158C>A p.P1053H COSMIC PASSENGER/OTHER Probably Damaging 574 TCGA-D5-5538-01 LARGE INTESTINE c.4013T>C p.L1338S COSMIC CANCER Probably Damaging 575 TCGA-D5-6535-01 LARGE INTESTINE c.1400C>T p.A467V COSMIC PASSENGER/OTHER Probably Damaging 576 TCGA-D5-6540-01 LARGE INTESTINE c.3493T>C p.W1165R COSMIC PASSENGER/OTHER Probably Damaging 577 TCGA-D5-6920-01 LARGE INTESTINE c.3507C>T p.R1169R COSMIC NP NP 578 TCGA-D5-6923-01 LARGE INTESTINE c.4837G>A p.V1613M COSMIC PASSENGER/OTHER Probably Damaging 579 TCGA-D5-6929-01 LARGE INTESTINE c.3720T>C p.C1240C COSMIC NP NP 580 TCGA-D8-A27H-01 BREAST c.5982G>C p.Q1994H COSMIC PASSENGER/OTHER Possibly Damaging 581 TCGA-DK-A1A3-01 URINARY TRACT c.3454C>T p.Q1152* COSMIC NP NP 582 TCGA-DK-A1AD-01 URINARY TRACT c.2080G>C p.V694L COSMIC PASSENGER/OTHER Benign 583 TCGA-DK-A1AD-01 URINARY TRACT c.4617T>G p.Y1539* COSMIC NP NP 584 TCGA-DK-A2I1-01 URINARY TRACT c.1996G>C p.E666Q COSMIC PASSENGER/OTHER Probably Damaging 585 TCGA-DM-A1D7-01 LARGE INTESTINE c.4499A>G p.Q1500R COSMIC PASSENGER/OTHER Probably Damaging 586 TCGA-DM-A1D8-01 LARGE INTESTINE c.4427C>T p.P1476L COSMIC CANCER Probably Damaging 587 TCGA-DM-A1DA-01 LARGE INTESTINE c.4459C>T p.H1487Y COSMIC CANCER Probably Damaging 588 TCGA-DM-A1HA-01 LARGE INTESTINE c.4445A>T p.Y1482F COSMIC CANCER Probably Damaging 589 TCGA-DM-A28C-01 LARGE INTESTINE c.1401C>A p.A467A COSMIC NP NP 590 TCGA-DM-A28H-01 LARGE INTESTINE c.3517C>T p.R1173* COSMIC NP NP 591 TCGA-DR-A0ZM-01 CERVIX c.637C>T p.L213F COSMIC PASSENGER/OTHER Probably Damaging 592 TCGA-EA-A1QT-01 CERVIX c.4627G>C p.D1543H COSMIC CANCER Probably Damaging 593 TCGA-EI-6507-01 LARGE INTESTINE c.3775C>T p.Q1259* COSMIC NP NP 594 TCGA-EI-6507-01 LARGE INTESTINE c.4428A>T p.P1476P COSMIC NP NP 595 TCGA-EI-6510-01 LARGE INTESTINE c.3236A>G p.Q1079R COSMIC PASSENGER/OTHER Probably Damaging 596 TCGA-EI-6510-01 LARGE INTESTINE c.4022G>T p.R1341L COSMIC PASSENGER/OTHER Probably Damaging 597 TCGA-F4-6460-01 LARGE INTESTINE c.5660C>A p.S1887* COSMIC NP NP 598 TCGA-F4-6808-01 LARGE INTESTINE c.4506G>A p.W1502* COSMIC NP NP 599 TCGA-F5-6812-01 LARGE INTESTINE c.4448T>C p.I1483T COSMIC CANCER Probably Damaging 600 TCGA-FD-A3N5-01 URINARY TRACT c.235G>A p.G79S COSMIC PASSENGER/OTHER Possibly Damaging 601 TCGA-FU-A23K-01 CERVIX c.182C>T p.P61L COSMIC PASSENGER/OTHER Probably Damaging 602 TCGA-G2-A2EL-01 URINARY TRACT c.4505G>A p.W1502* COSMIC NP NP 603 TCGA-G2-A2EO-01 URINARY TRACT c.7302G>A p.T2434T COSMIC NP NP 604 TCGA-G4-6293-01 LARGE INTESTINE c.3059A>G p.E1020G COSMIC PASSENGER/OTHER Benign 605 TCGA-G4-6299-01 LARGE INTESTINE c.399G>C p.L133L COSMIC NP NP 606 TCGA-G4-6299-01 LARGE INTESTINE c.4014G>A p.L1338L COSMIC NP NP 607 TCGA-G4-6304-01 LARGE INTESTINE c.4282C>T p.R1428C COSMIC CANCER Probably Damaging 608 TCGA-G4-6307-01 LARGE INTESTINE c.5282C>A p.S1761* COSMIC NP NP 609 TCGA-G4-6315-01 LARGE INTESTINE c.7107C>T p.P2369P COSMIC NP NP 610 TCGA-G4-6317-01 LARGE INTESTINE c.3720T>C p.C1240C COSMIC NP NP 611 TCGA-G4-6586-01 LARGE INTESTINE c.4012T>C p.L1338L COSMIC NP NP 612 TCGA-G4-6586-01 LARGE INTESTINE c.4448T>C p.I1483T COSMIC CANCER Probably Damaging 613 TCGA-G4-6588-01 LARGE INTESTINE c.224G>T p.R75L COSMIC PASSENGER/OTHER Probably Damaging 614 TCGA-G4-6588-01 LARGE INTESTINE c.4446C>T p.Y1482Y COSMIC NP NP 615 TCGA-G4-6588-01 LARGE INTESTINE c.4689G>A p.R1563R COSMIC NP NP 616 TCGA-G4-6625-01 LARGE INTESTINE c.2159G>T p.G720V COSMIC PASSENGER/OTHER Probably Damaging 617 TCGA-G4-6628-01 LARGE INTESTINE c.3882C>T p.C1294C COSMIC NP NP 618 TCGA-GV-A3JV-01 URINARY TRACT c.5895G>A p.E1965E COSMIC NP NP 619 TCGA-GV-A3JX-01 URINARY TRACT c.2666C>G p.S889* COSMIC NP NP 620 TCGA-GV-A3QG-01 URINARY TRACT c.3427G>C p.D1143H COSMIC PASSENGER/OTHER Possibly Damaging 621 VAL HAEMATOPOIETIC AND LYMPHOID TISSUE c.694C>T p.Q232* COSMIC NP NP 622 WA16 PROSTATE c.1389G>A p.G463G COSMIC NP NP 623 WSU HAEMATOPOIETIC AND LYMPHOID TISSUE c.4459C>T p.H1487Y COSMIC CANCER Probably Damaging 624 WSU-NHL HAEMATOPOIETIC AND LYMPHOID TISSUE c.4459C>T p.H1487Y COSMIC CANCER Probably Damaging 625 YUDEXA SKIN c.3394C>T p.P1132S COSMIC CANCER Benign 626 YUKLAB SKIN c.3367C>T p.P1123S COSMIC PASSENGER/OTHER Probably Damaging 627 YUPAT SKIN c.3368C>T p.P1123L COSMIC PASSENGER/OTHER Probably Damaging 628 cSCCP8 SKIN c.2356C>A p.Q786K COSMIC PASSENGER/OTHER Probably Damaging 629 ccRCC-75 KIDNEY c.1645T>G p.S549A COSMIC PASSENGER/OTHER Benign 630 ccRCC-84 KIDNEY c.2567C>T p.T856I COSMIC PASSENGER/OTHER Probably Damaging 631 ov51 OVARY c.4061C>T p.A1354V COSMIC PASSENGER/OTHER Probably Damaging 632 ov519A OVARY c.1399G>A p.A467T COSMIC PASSENGER/OTHER Benign 633 ov519A OVARY c.4477delA p.I1493fs*57 COSMIC NP NP 634 ov623 OVARY c.567delC p.N190fs*8 COSMIC NP NP 635 pfg008T STOMACH c.3468C>T p.D1156D COSMIC NP NP 636 pfg020T STOMACH c.3305A>G p.Y1102C COSMIC PASSENGER/OTHER Probably Damaging 637 tumor_4125240 HAEMATOPOIETIC AND LYMPHOID TISSUE c.4243C>T p.Q1415* COSMIC NP NP 638 tumor_4159170 HAEMATOPOIETIC AND LYMPHOID TISSUE c.4508A>C p.Y1503S COSMIC CANCER Probably Damaging
*NP: Not Predicted -
Copy number variation and expression profile (+)
-
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 (+)
Users must enabled the Java in their browser to see structure.
Users can also download Java from here.Modelled Structure Structures available in PDB 1JSP, 1LIQ, 1RDT, 1WO3, 1WO4, 1WO5, 1WO6, 1WO7, 1ZOQ, 2D82, 2KJE, 2KWF, 2L84, 2L85, 2LXS, 2LXT, 2RNY, 3DWY, 3P1C, 3P1D, 3P1E, 3P1F, 3SVH, 4A9K, 4N3W, 4N4F, 4NR4, 4NR5, 4NR6, 4NR7, 4NYV, 4NYW, 4NYX, 4OUF, -
Structure Domains (+)
1. PFAM Domains:Domain ID Domain Name Start Site End Site E-value PB015526 Pfam-B_15526 29 126 6.4e-11 PF02135 zf-TAZ 353 432 7.3e-21 PF02172 KIX 588 667 3e-41 PF00439 Bromodomain 1104 1178 8.6e-18 PF06001 DUF902 1191 1232 3.3e-24 PF08214 KAT11 1344 1639 9.1e-79 PF00569 ZZ 1702 1742 3.9e-14 PF02135 zf-TAZ 1771 1843 2.7e-16 PF09030 Creb_binding 2016 2115 8.9e-46 -
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 T Phosphorylation 2 1001 T Phosphorylation 3 1014 K Acetylation 4 1014 K Acetylation 5 1030 S Phosphorylation 6 1030 S Phosphorylation 7 1072 S Phosphorylation 8 1072 S Phosphorylation 9 1076 S Phosphorylation 10 1203 K Acetylation 11 121 S Phosphorylation 12 121 S Phosphorylation 13 1216 K Acetylation 14 1216 K Acetylation 15 124 S Phosphorylation 16 124 S Phosphorylation 17 1376 K Acetylation 18 1382 S Phosphorylation 19 1382 S Phosphorylation 20 1386 S Phosphorylation 21 1386 S Phosphorylation 22 1450 Y Phosphorylation 23 1457 Y Phosphorylation 24 1460 Y Phosphorylation 25 1535 K Acetylation 26 1554 K Acetylation 27 1583 K Acetylation 28 1583 K Acetylation 29 1586 K Acetylation 30 1587 K Acetylation 31 1588 K Acetylation 32 1588 K Acetylation 33 1591 K Acetylation 34 1591 K Acetylation 35 1592 K Acetylation 36 1592 K Acetylation 37 1595 K Acetylation 38 1595 K Acetylation 39 1597 K Acetylation 40 1597 K Acetylation 41 1627 K Acetylation 42 1711 K Acetylation 43 1741 K Acetylation 44 1741 K Acetylation 45 1744 K Acetylation 46 1744 K Acetylation 47 1755 S Phosphorylation 48 1755 S Phosphorylation 49 1763 S Phosphorylation 50 1771 S Phosphorylation 51 2 A Acetylation 52 2041 S Phosphorylation 53 2063 S Phosphorylation 54 2063 S Phosphorylation 55 2065 S Phosphorylation 56 2076 S Phosphorylation 57 2076 S Phosphorylation 58 2078 S Phosphorylation 59 2079 S Phosphorylation 60 2079 S Phosphorylation 61 2102 K Ubiquitylation 62 2322 S Phosphorylation 63 2356 S Phosphorylation 64 2364 S Phosphorylation 65 2372 S Phosphorylation 66 2377 S Phosphorylation 67 2382 S Phosphorylation 68 2390 T Phosphorylation 69 2394 S Phosphorylation 70 2406 S Phosphorylation 71 274 S Phosphorylation 72 274 S Phosphorylation 73 302 S Phosphorylation (CAMK4) 74 302 S Phosphorylation 75 437 S Phosphorylation 76 437 S Phosphorylation (PRKCD) 77 437 S Phosphorylation 78 601 R Methylation 79 659 Y Phosphorylation 80 702 R Methylation 81 714 R Methylation 82 742 R Methylation 83 768 R Methylation 84 78 S Phosphorylation 85 93 S Phosphorylation -
Other Databases Link (+)
Proteomics DB COSMIC Gene Atlas STRING PIR CREBBP CREBBP CREBBP ENSP00000262367 Q92793 QuickGO HGNC Ensembl Genome Browser TreeFam UniProt Q92793 CREBBP ENSP00000262367 CREBBP Q92793 Expression Atlas Protein Atlas OMIM IntAct PharmGKB CREBBP ENSP00000262367 600140 Q92793 PA162404706
