1 | CHL1 | Cell Line | SKIN | NP_001056 | c.739_splice | p.V247_splice | CCLE | NP | NP |
2 | COLO680N | Cell Line | OESOPHAGUS | NP_001056 | c.762A>C | p.E254D | CCLE | PASSENGER/OTHER | Benign |
3 | DV90 | Cell Line | LUNG | NP_001056 | c.1144G>A | p.D382N | CCLE | CANCER | Probably Damaging |
4 | HT115 | Cell Line | LARGE INTESTINE | NP_001056 | c.167C>T | p.S56L | CCLE | PASSENGER/OTHER | Probably Damaging |
5 | JHUEM7 | Cell Line | ENDOMETRIUM | NP_001056 | c.167C>T | p.S56L | CCLE | PASSENGER/OTHER | Probably Damaging |
6 | ME1 | Cell Line | HAEMATOPOIETIC AND LYMPHOID TISSUE | NP_001056 | c.460G>A | p.V154M | CCLE | PASSENGER/OTHER | Probably Damaging |
7 | NCIH889 | Cell Line | LUNG | NP_001056 | c.1189C>T | p.R397C | CCLE | PASSENGER/OTHER | Probably Damaging |
8 | SNU1040 | Cell Line | LARGE INTESTINE | NP_001056 | c.1304A>T | p.E435V | CCLE | CANCER | Probably Damaging |
9 | SNU601 | Cell Line | STOMACH | NP_001056 | c.1222A>T | p.R408W | CCLE | CANCER | Probably Damaging |
10 | 587234 | Tumour | LARGE INTESTINE | ENST00000162749 | c.1026G>T | p.E342D | COSMIC | NP | NP |
11 | 587256 | Tumour | LARGE INTESTINE | ENST00000162749 | c.961G>A | p.A321T | COSMIC | NP | NP |
12 | 587342 | Tumour | LARGE INTESTINE | ENST00000162749 | c.985C>A | p.L329I | COSMIC | NP | NP |
13 | 86571 | Tumour | LUNG | ENST00000162749 | c.237G>A | p.T79T | COSMIC | NP | NP |
14 | 86802 | Tumour | LUNG | ENST00000162749 | c.955C>T | p.Q319* | COSMIC | NP | NP |
15 | CLL023 | Tumour | HAEMATOPOIETIC AND LYMPHOID TISSUE | ENST00000162749 | c.1275C>T | p.L425L | COSMIC | NP | NP |
16 | DLBCL-PatientI | Tumour | HAEMATOPOIETIC AND LYMPHOID TISSUE | ENST00000162749 | c.734C>T | p.S245F | COSMIC | NP | NP |
17 | GC3 | Tumour | T STOMACH | ENST00000162749 | c.625+5G>A | p.? | COSMIC | NP | NP |
18 | GC8 | Tumour | T STOMACH | ENST00000162749 | c.740-9T>C | p.? | COSMIC | NP | NP |
19 | HN | Tumour | 62469 UPPER AERODIGESTIVE TRACT | ENST00000162749 | c.236C>T | p.T79M | COSMIC | NP | NP |
20 | HN | Tumour | 62832 UPPER AERODIGESTIVE TRACT | ENST00000162749 | c.955C>T | p.Q319* | COSMIC | NP | NP |
21 | MZ7-mel | Cell Line | SKIN | ENST00000162749 | c.760G>A | p.E254K | COSMIC | NP | NP |
22 | NB-0462 | Tumour | AUTONOMIC GANGLIA | ENST00000162749 | c.842_843insT | p.T282fs*22 | COSMIC | NP | NP |
23 | PD6760a | Tumour | NS | ENST00000162749 | c.147T>C | p.Y49Y | COSMIC | NP | NP |
24 | TCGA-04-1337-01 | Tumour | OVARY | ENST00000162749 | c.432C>G | p.F144L | COSMIC | NP | NP |
25 | TCGA-29-1770-01 | Tumour | OVARY | ENST00000162749 | c.1368A>T | p.*456C | COSMIC | NP | NP |
26 | TCGA-33-4566-01 | Tumour | LUNG | ENST00000162749 | c.1070C>T | p.A357V | COSMIC | NP | NP |
27 | TCGA-66-2792-01 | Tumour | LUNG | ENST00000162749 | c.567G>T | p.L189L | COSMIC | NP | NP |
28 | TCGA-66-2792-01 | Tumour | LUNG | ENST00000162749 | c.619G>A | p.D207N | COSMIC | NP | NP |
29 | TCGA-A8-A09Q-01 | Tumour | BREAST | ENST00000162749 | c.36A>G | p.P12P | COSMIC | NP | NP |
30 | TCGA-AA-3710-01 | Tumour | LARGE INTESTINE | ENST00000162749 | c.531C>T | p.N177N | COSMIC | NP | NP |
31 | TCGA-AA-A022-01 | Tumour | LARGE INTESTINE | ENST00000162749 | c.47T>C | p.L16P | COSMIC | NP | NP |
32 | TCGA-AP-A056-01 | Tumour | ENDOMETRIUM | ENST00000162749 | c.167C>T | p.S56L | COSMIC | NP | NP |
33 | TCGA-AP-A0LM-01 | Tumour | ENDOMETRIUM | ENST00000162749 | c.457A>G | p.T153A | COSMIC | NP | NP |
34 | TCGA-AX-A0J1-01 | Tumour | ENDOMETRIUM | ENST00000162749 | c.213C>T | p.D71D | COSMIC | NP | NP |
35 | TCGA-AZ-4315-01 | Tumour | LARGE INTESTINE | ENST00000162749 | c.167C>T | p.S56L | COSMIC | NP | NP |
36 | TCGA-B0-5702-01 | Tumour | KIDNEY | ENST00000162749 | c.46C>T | p.L16L | COSMIC | NP | NP |
37 | TCGA-B5-A0JV-01 | Tumour | ENDOMETRIUM | ENST00000162749 | c.841C>A | p.P281T | COSMIC | NP | NP |
38 | TCGA-B5-A0JY-01 | Tumour | ENDOMETRIUM | ENST00000162749 | c.212A>G | p.D71G | COSMIC | NP | NP |
39 | TCGA-B6-A0RN-01 | Tumour | BREAST | ENST00000162749 | c.362G>A | p.R121Q | COSMIC | NP | NP |
40 | TCGA-BP-5185-01 | Tumour | KIDNEY | ENST00000162749 | c.623C>T | p.S208L | COSMIC | NP | NP |
41 | TCGA-BS-A0UF-01 | Tumour | ENDOMETRIUM | ENST00000162749 | c.168G>A | p.S56S | COSMIC | NP | NP |
42 | TCGA-C8-A274-01 | Tumour | BREAST | ENST00000162749 | c.74C>T | p.S25L | COSMIC | NP | NP |
43 | TCGA-CJ-5679-01 | Tumour | KIDNEY | ENST00000162749 | c.106G>T | p.D36Y | COSMIC | NP | NP |
44 | TCGA-CZ-5451-01 | Tumour | KIDNEY | ENST00000162749 | c.681C>A | p.L227L | COSMIC | NP | NP |
45 | TCGA-D1-A17Q-01 | Tumour | ENDOMETRIUM | ENST00000162749 | c.526G>T | p.E176* | COSMIC | NP | NP |
46 | TCGA-F4-6570-01 | Tumour | LARGE INTESTINE | ENST00000162749 | c.79delG | p.V27fs*8 | COSMIC | NP | NP |
47 | TCGA-G4-6309-01 | Tumour | LARGE INTESTINE | ENST00000162749 | c.68A>G | p.Y23C | COSMIC | NP | NP |
48 | YUKLAB | Tumour | SKIN | ENST00000162749 | c.217C>T | p.P73S | COSMIC | NP | NP |
49 | BE13 | Cell Line | HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | ENST00000162749 | c.862G>A | p.V288M | COSMIC | PASSENGER/OTHER | BENIGN |
50 | CHL1 | Cell Line | SKIN | ENST00000162749 | c.739+1G>A | p.? | COSMIC | NP | NP |
51 | COLO680N | Cell Line | OESOPHAGUS | ENST00000162749 | c.762A>C | p.E254D | COSMIC | PASSENGER/OTHER | BENIGN |
52 | CP67MEL | Cell Line | SKIN | ENST00000162749 | c.193G>A | p.G65R | COSMIC | CANCER | PROBABLY DAMAGING |
53 | CROAP2 | Cell Line | HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | ENST00000162749 | c.1075C>T | p.L359L | COSMIC | NP | NP |
54 | EW3 | Cell Line | BONE | ENST00000162749 | c.1354A>G | p.S452G | COSMIC | PASSENGER/OTHER | BENIGN |
55 | HPAC | Cell Line | PANCREAS | ENST00000162749 | c.1075C>T | p.L359L | COSMIC | NP | NP |
56 | HT115 | Cell Line | LARGE_INTESTINE | ENST00000162749 | c.167C>T | p.S56L | COSMIC | PASSENGER/OTHER | PROBABLY DAMAGING |
57 | MDST8 | Cell Line | LARGE_INTESTINE | ENST00000162749 | c.793A>T | p.K265* | COSMIC | NP | NP |
58 | ME1 | Cell Line | HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | ENST00000162749 | c.460G>A | p.V154M | COSMIC | PASSENGER/OTHER | PROBABLY DAMAGING |
59 | MOLT4 | Cell Line | HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | ENST00000162749 | c.771G>A | p.G257G | COSMIC | NP | NP |
60 | MZ7MEL | Cell Line | SKIN | ENST00000162749 | c.760G>A | p.E254K | COSMIC | PASSENGER/OTHER | BENIGN |
61 | NCIH740 | Cell Line | LUNG | ENST00000162749 | c.823C>T | p.P275S | COSMIC | PASSENGER/OTHER | POSSIBLY DAMAGING |
62 | OVCA420 | Cell Line | OVARY | ENST00000162749 | c.32_34delTGC | p.L11delL | COSMIC | NP | NP |
63 | PANC0327 | Cell Line | PANCREAS | ENST00000162749 | c.123T>G | p.D41E | COSMIC | PASSENGER/OTHER | BENIGN |
64 | SKUT1 | Cell Line | SOFT_TISSUE | ENST00000162749 | c.398G>A | p.R133Q | COSMIC | PASSENGER/OTHER | POSSIBLY DAMAGING |
65 | TT2609C02 | Cell Line | THYROID | ENST00000162749 | c.1332C>T | p.P444P | COSMIC | NP | NP |
66 | CHL1 | Cell Line | SKIN | NP_001056 | c.739_splice | p.V247_splice | CCLE | NP | NP |
67 | COLO680N | Cell Line | OESOPHAGUS | NP_001056 | c.762A>C | p.E254D | CCLE | PASSENGER/OTHER | Benign |
68 | DV90 | Cell Line | LUNG | NP_001056 | c.1144G>A | p.D382N | CCLE | CANCER | Probably Damaging |
69 | HT115 | Cell Line | LARGE INTESTINE | NP_001056 | c.167C>T | p.S56L | CCLE | PASSENGER/OTHER | Probably Damaging |
70 | JHUEM7 | Cell Line | ENDOMETRIUM | NP_001056 | c.167C>T | p.S56L | CCLE | PASSENGER/OTHER | Probably Damaging |
71 | ME1 | Cell Line | HAEMATOPOIETIC AND LYMPHOID TISSUE | NP_001056 | c.460G>A | p.V154M | CCLE | PASSENGER/OTHER | Probably Damaging |
72 | NCIH889 | Cell Line | LUNG | NP_001056 | c.1189C>T | p.R397C | CCLE | PASSENGER/OTHER | Probably Damaging |
73 | SNU1040 | Cell Line | LARGE INTESTINE | NP_001056 | c.1304A>T | p.E435V | CCLE | CANCER | Probably Damaging |
74 | SNU601 | Cell Line | STOMACH | NP_001056 | c.1222A>T | p.R408W | CCLE | CANCER | Probably Damaging |
75 | 587234 | Tumour | LARGE INTESTINE | ENST00000162749 | c.1026G>T | p.E342D | COSMIC | NP | NP |
76 | 587256 | Tumour | LARGE INTESTINE | ENST00000162749 | c.961G>A | p.A321T | COSMIC | NP | NP |
77 | 587342 | Tumour | LARGE INTESTINE | ENST00000162749 | c.985C>A | p.L329I | COSMIC | NP | NP |
78 | 86571 | Tumour | LUNG | ENST00000162749 | c.237G>A | p.T79T | COSMIC | NP | NP |
79 | 86802 | Tumour | LUNG | ENST00000162749 | c.955C>T | p.Q319* | COSMIC | NP | NP |
80 | CLL023 | Tumour | HAEMATOPOIETIC AND LYMPHOID TISSUE | ENST00000162749 | c.1275C>T | p.L425L | COSMIC | NP | NP |
81 | DLBCL-PatientI | Tumour | HAEMATOPOIETIC AND LYMPHOID TISSUE | ENST00000162749 | c.734C>T | p.S245F | COSMIC | NP | NP |
82 | GC3 | Tumour | T STOMACH | ENST00000162749 | c.625+5G>A | p.? | COSMIC | NP | NP |
83 | GC8 | Tumour | T STOMACH | ENST00000162749 | c.740-9T>C | p.? | COSMIC | NP | NP |
84 | HN | Tumour | 62469 UPPER AERODIGESTIVE TRACT | ENST00000162749 | c.236C>T | p.T79M | COSMIC | NP | NP |
85 | HN | Tumour | 62832 UPPER AERODIGESTIVE TRACT | ENST00000162749 | c.955C>T | p.Q319* | COSMIC | NP | NP |
86 | MZ7-mel | Cell Line | SKIN | ENST00000162749 | c.760G>A | p.E254K | COSMIC | NP | NP |
87 | NB-0462 | Tumour | AUTONOMIC GANGLIA | ENST00000162749 | c.842_843insT | p.T282fs*22 | COSMIC | NP | NP |
88 | PD6760a | Tumour | NS | ENST00000162749 | c.147T>C | p.Y49Y | COSMIC | NP | NP |
89 | TCGA-04-1337-01 | Tumour | OVARY | ENST00000162749 | c.432C>G | p.F144L | COSMIC | NP | NP |
90 | TCGA-29-1770-01 | Tumour | OVARY | ENST00000162749 | c.1368A>T | p.*456C | COSMIC | NP | NP |
91 | TCGA-33-4566-01 | Tumour | LUNG | ENST00000162749 | c.1070C>T | p.A357V | COSMIC | NP | NP |
92 | TCGA-66-2792-01 | Tumour | LUNG | ENST00000162749 | c.567G>T | p.L189L | COSMIC | NP | NP |
93 | TCGA-66-2792-01 | Tumour | LUNG | ENST00000162749 | c.619G>A | p.D207N | COSMIC | NP | NP |
94 | TCGA-A8-A09Q-01 | Tumour | BREAST | ENST00000162749 | c.36A>G | p.P12P | COSMIC | NP | NP |
95 | TCGA-AA-3710-01 | Tumour | LARGE INTESTINE | ENST00000162749 | c.531C>T | p.N177N | COSMIC | NP | NP |
96 | TCGA-AA-A022-01 | Tumour | LARGE INTESTINE | ENST00000162749 | c.47T>C | p.L16P | COSMIC | NP | NP |
97 | TCGA-AP-A056-01 | Tumour | ENDOMETRIUM | ENST00000162749 | c.167C>T | p.S56L | COSMIC | NP | NP |
98 | TCGA-AP-A0LM-01 | Tumour | ENDOMETRIUM | ENST00000162749 | c.457A>G | p.T153A | COSMIC | NP | NP |
99 | TCGA-AX-A0J1-01 | Tumour | ENDOMETRIUM | ENST00000162749 | c.213C>T | p.D71D | COSMIC | NP | NP |
100 | TCGA-AZ-4315-01 | Tumour | LARGE INTESTINE | ENST00000162749 | c.167C>T | p.S56L | COSMIC | NP | NP |
101 | TCGA-B0-5702-01 | Tumour | KIDNEY | ENST00000162749 | c.46C>T | p.L16L | COSMIC | NP | NP |
102 | TCGA-B5-A0JV-01 | Tumour | ENDOMETRIUM | ENST00000162749 | c.841C>A | p.P281T | COSMIC | NP | NP |
103 | TCGA-B5-A0JY-01 | Tumour | ENDOMETRIUM | ENST00000162749 | c.212A>G | p.D71G | COSMIC | NP | NP |
104 | TCGA-B6-A0RN-01 | Tumour | BREAST | ENST00000162749 | c.362G>A | p.R121Q | COSMIC | NP | NP |
105 | TCGA-BP-5185-01 | Tumour | KIDNEY | ENST00000162749 | c.623C>T | p.S208L | COSMIC | NP | NP |
106 | TCGA-BS-A0UF-01 | Tumour | ENDOMETRIUM | ENST00000162749 | c.168G>A | p.S56S | COSMIC | NP | NP |
107 | TCGA-C8-A274-01 | Tumour | BREAST | ENST00000162749 | c.74C>T | p.S25L | COSMIC | NP | NP |
108 | TCGA-CJ-5679-01 | Tumour | KIDNEY | ENST00000162749 | c.106G>T | p.D36Y | COSMIC | NP | NP |
109 | TCGA-CZ-5451-01 | Tumour | KIDNEY | ENST00000162749 | c.681C>A | p.L227L | COSMIC | NP | NP |
110 | TCGA-D1-A17Q-01 | Tumour | ENDOMETRIUM | ENST00000162749 | c.526G>T | p.E176* | COSMIC | NP | NP |
111 | TCGA-F4-6570-01 | Tumour | LARGE INTESTINE | ENST00000162749 | c.79delG | p.V27fs*8 | COSMIC | NP | NP |
112 | TCGA-G4-6309-01 | Tumour | LARGE INTESTINE | ENST00000162749 | c.68A>G | p.Y23C | COSMIC | NP | NP |
113 | YUKLAB | Tumour | SKIN | ENST00000162749 | c.217C>T | p.P73S | COSMIC | NP | NP |
114 | BE13 | Cell Line | HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | ENST00000162749 | c.862G>A | p.V288M | COSMIC | PASSENGER/OTHER | BENIGN |
115 | CHL1 | Cell Line | SKIN | ENST00000162749 | c.739+1G>A | p.? | COSMIC | NP | NP |
116 | COLO680N | Cell Line | OESOPHAGUS | ENST00000162749 | c.762A>C | p.E254D | COSMIC | PASSENGER/OTHER | BENIGN |
117 | CP67MEL | Cell Line | SKIN | ENST00000162749 | c.193G>A | p.G65R | COSMIC | CANCER | PROBABLY DAMAGING |
118 | CROAP2 | Cell Line | HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | ENST00000162749 | c.1075C>T | p.L359L | COSMIC | NP | NP |
119 | EW3 | Cell Line | BONE | ENST00000162749 | c.1354A>G | p.S452G | COSMIC | PASSENGER/OTHER | BENIGN |
120 | HPAC | Cell Line | PANCREAS | ENST00000162749 | c.1075C>T | p.L359L | COSMIC | NP | NP |
121 | HT115 | Cell Line | LARGE_INTESTINE | ENST00000162749 | c.167C>T | p.S56L | COSMIC | PASSENGER/OTHER | PROBABLY DAMAGING |
122 | MDST8 | Cell Line | LARGE_INTESTINE | ENST00000162749 | c.793A>T | p.K265* | COSMIC | NP | NP |
123 | ME1 | Cell Line | HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | ENST00000162749 | c.460G>A | p.V154M | COSMIC | PASSENGER/OTHER | PROBABLY DAMAGING |
124 | MOLT4 | Cell Line | HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | ENST00000162749 | c.771G>A | p.G257G | COSMIC | NP | NP |
125 | MZ7MEL | Cell Line | SKIN | ENST00000162749 | c.760G>A | p.E254K | COSMIC | PASSENGER/OTHER | BENIGN |
126 | NCIH740 | Cell Line | LUNG | ENST00000162749 | c.823C>T | p.P275S | COSMIC | PASSENGER/OTHER | POSSIBLY DAMAGING |
127 | OVCA420 | Cell Line | OVARY | ENST00000162749 | c.32_34delTGC | p.L11delL | COSMIC | NP | NP |
128 | PANC0327 | Cell Line | PANCREAS | ENST00000162749 | c.123T>G | p.D41E | COSMIC | PASSENGER/OTHER | BENIGN |
129 | SKUT1 | Cell Line | SOFT_TISSUE | ENST00000162749 | c.398G>A | p.R133Q | COSMIC | PASSENGER/OTHER | POSSIBLY DAMAGING |
130 | TT2609C02 | Cell Line | THYROID | ENST00000162749 | c.1332C>T | p.P444P | COSMIC | NP | NP |