Final_GOF_all_table.csv

Gene_name_Substitution,Gene_name,Substitution,Mutation_type,GOF_or_PRED_GOF,PMID,Protein_ID,Data_set
ABL1_A337T,ABL1,A337T,missense,gain of function ,"28288113,28288113,28288113, ",ENSP00000323315,JAX_GOF_all
ABL1_A337V,ABL1,A337V,missense,gain of function ,"27890928,27890928, ",ENSP00000323315,JAX_GOF_all
ABL1_A344P,ABL1,A344P,missense,gain of function - predicted ,"31543464,27890928,27890928, ",ENSP00000323315,JAX_GOF_all
ABL1_A356T,ABL1,A356T,missense,gain of function ,"28288113,28288113, ",P00519-2,JAX_GOF_all
ABL1_D276G,ABL1,D276G,missense,gain of function - predicted ,15510211,ENSP00000323315,JAX_GOF_all
ABL1_E255K,ABL1,E255K,missense,,15194504,ENSP00000323315,JAX_GOF_all
ABL1_G250E,ABL1,G250E,missense,,"30684523, 21562040",ENSP00000323315,JAX_GOF_all
ABL1_G321L,ABL1,G321L,missense,gain of function - predicted ,"26758680,26758680, ",ENSP00000323315,JAX_GOF_all
ABL1_P465S,ABL1,P465S,missense,gain of function ,"27890928,27890928, ",ENSP00000323315,JAX_GOF_all
ABL1_R332W,ABL1,R332W,missense,gain of function ,"26758680,26758680, ",ENSP00000323315,JAX_GOF_all
ABL1_R351W,ABL1,R351W,missense,,,P00519-2,GOF_data_set_1049_PMID_combined
ABL1_T315I,ABL1,T315I,missense,,"11423618, 18794843, 27890928",ENSP00000323315,JAX_GOF_all
ABL1_V468F,ABL1,V468F,missense,gain of function ,"27890928,27890928, ",ENSP00000323315,JAX_GOF_all
ABL1_Y226C,ABL1,Y226C,missense,gain of function ,"28288113,28288113, ",ENSP00000323315,JAX_GOF_all
ABL1_Y245C,ABL1,Y245C,missense,gain of function ,"28288113,28288113, ",P00519-2,JAX_GOF_all
ABL1_Y253F,ABL1,Y253F,missense,,"16880519, 24487968, 16880519",ENSP00000323315,JAX_GOF_all
AKT1_D323H,AKT1,D323H,missense,,"23134728, 26701849, 20886116",P31749,JAX_GOF_all
AKT1_D325A,AKT1,D325A,missense,,23134728,P31749,JAX_GOF_all
AKT1_E17K,AKT1,E17K,missense,,"17611497, 29533785, 23134728, 20440266, 23741320, 18256540, 21793738, 17611497, 9843996",P31749,JAX_GOF_all
AKT1_E191A,AKT1,E191A,missense,,"26256536, 23134728",P31749,JAX_GOF_all
AKT1_E267G,AKT1,E267G,missense,,27147599,P31749,JAX_GOF_all
AKT1_E40K,AKT1,E40K,missense,,"9690513, 9843996",P31749,JAX_GOF_all
AKT1_E49K,AKT1,E49K,missense,,19802009,P31749,JAX_GOF_all
AKT1_F55Y,AKT1,F55Y,missense,,"23134728, ",P31749,JAX_GOF_all
AKT1_K189N,AKT1,K189N,missense,,23134728,P31749,JAX_GOF_all
AKT1_L321A,AKT1,L321A,missense,,23134728,P31749,JAX_GOF_all
AKT1_L52R,AKT1,L52R,missense,,"23134728, 27147599, 20886116",P31749,JAX_GOF_all
AKT1_L78T,AKT1,L78T,missense,,23134728,P31749,JAX_GOF_all
AKT1_N53A,AKT1,N53A,missense,,23134728,P31749,JAX_GOF_all
AKT1_Q79E,AKT1,Q79E,missense,,23134728,P31749,JAX_GOF_all
AKT1_Q79K,AKT1,Q79K,missense,,"27232857, 23134728, 20886116, 24265152",P31749,JAX_GOF_all
AKT1_R23A,AKT1,R23A,missense,,23134728,P31749,JAX_GOF_all
AKT1_R328A,AKT1,R328A,missense,,23134728,P31749,JAX_GOF_all
AKT1_T195I,AKT1,T195I,missense,,23134728,P31749,JAX_GOF_all
AKT1_V270A,AKT1,V270A,missense,,23134728,P31749,JAX_GOF_all
AKT1_V271A,AKT1,V271A,missense,,23134728,P31749,JAX_GOF_all
AKT1_W80R,AKT1,W80R,missense,,"26137586, ",P31749,JAX_GOF_all
ALK_A348D,ALK,A348D,missense,gain of function ,"26032424,26032424, ",ENSP00000373700,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
ALK_D1163N,ALK,D1163N,missense,gain of function - predicted ,33674381,,JAX_GOF_all
ALK_F1174C,ALK,F1174C,missense,gain of function ,"24509625, 22072639, 21383740, 26698910, 22034911, 24675041",ENSP00000373700,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
ALK_F1174I,ALK,F1174I,missense,gain of function ,"23104988,23104988, 21383740, 25749034",ENSP00000373700,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
ALK_F1174L,ALK,F1174L,missense,gain of function ,"18923525, 29533785, 29907598, 21383740, 25517749, 22072639, 18724359, 21030459, 18923523, 27009859, 21948233, 21596819, 20719933, 27049722, 26144315, 26554404, 23104988, 18923524, 26786851, 21242967, 21613408",ENSP00000373700,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
ALK_F1174S,ALK,F1174S,missense,gain of function ,"21059859,33674381,21059859, 21383740, 23104988",ENSP00000373700,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
ALK_F1174V,ALK,F1174V,missense,gain of function - predicted ,"21242967,24675041,21242967, 18923523, 21383740, 27049722, 25421750",ENSP00000373700,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
ALK_F1245C,ALK,F1245C,missense,gain of function ,"21838707, 21383740, 25517749, 27049722, 26554404, 22034911, 23598171",ENSP00000373700,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
ALK_F1245V,ALK,F1245V,missense,gain of function ,"25517749, 21383740",ENSP00000373700,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
ALK_F856S,ALK,F856S,missense,gain of function ,"26032424,26032424, ",ENSP00000373700,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
ALK_G1128A,ALK,G1128A,missense,gain of function ,"21838707, 21383740, 25517749, 27049722",ENSP00000373700,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
ALK_G1201E,ALK,G1201E,missense,gain of function ,"21596819,21596819, 21383740",ENSP00000373700,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
ALK_G1269A,ALK,G1269A,missense,,"22235099, 27009859, 26849637, 23401436, 21948233, 22277784, 21383740, 27049722, 26144315, 26698910, 24675041",Q9UM73,GOF_data_set_1049_PMID_combined
ALK_G1269S,ALK,G1269S,missense,gain of function - predicted ,"21948233,21948233, 22277784, 21383740, 22034911, 24675041",ENSP00000373700,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
ALK_I1170N,ALK,I1170N,missense,gain of function ,,,JAX_GOF_all
ALK_I1170S,ALK,I1170S,missense,gain of function ,,,JAX_GOF_all
ALK_I1170V,ALK,I1170V,missense,gain of function - predicted ,33674381,,JAX_GOF_all
ALK_I1171N,ALK,I1171N,missense,gain of function ,"27565911,23239810, 21838707, 21383740, 25517749, 27049722, 24491302, 25749034",ENSP00000373700,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
ALK_I1171T,ALK,I1171T,missense,gain of function ,"29907598,27009859,29907598, 27009859, 25228534, 21383740, 22034911, 25749034, 24675041, 25736571",ENSP00000373700,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
ALK_K1062M,ALK,K1062M,missense,gain of function ,"28199182,21596819,28199182, 21596819, 21383740, 18923524",ENSP00000373700,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
ALK_L1196M,ALK,L1196M,missense,gain of function ,"30258533,25517749,25517749, 22235099, 23434628, 22277784, 21383740, 26144315, 20979473, 26698910, 22034911, 25421750, 21613408, 24675041",ENSP00000373700,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
ALK_L1198F,ALK,L1198F,missense,gain of function ,"21596819,21596819, 21383740, 26698910, 25421750",ENSP00000373700,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
ALK_L1198P,ALK,L1198P,missense,gain of function - predicted ,"21948233,21948233, 21383740",ENSP00000373700,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
ALK_M1166R,ALK,M1166R,missense,gain of function ,"23104988,23104988, 21383740, 25517749",ENSP00000373700,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
ALK_R1192P,ALK,R1192P,missense,gain of function ,"21838707,21838707, 27009859, 21383740, 25517749, 27049722",ENSP00000373700,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
ALK_R1275Q,ALK,R1275Q,missense,gain of function ,"2,183,870,729,533,780, 18923523, 21383740, 18923525, 25517749, 26829053, 27049722, 26554404, 22072639",ENSP00000373700,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
ALK_R401L,ALK,R401L,missense,gain of function - predicted ,,,JAX_GOF_all
ALK_R753Q,ALK,R753Q,missense,gain of function - predicted ,34646012,,JAX_GOF_all
ALK_T1151M,ALK,T1151M,missense,gain of function - predicted ,18923525,,JAX_GOF_all
ALK_Y1278S,ALK,Y1278S,missense,gain of function ,"25517749, 29084134, 25071110, 21383740, 27049722, 23598171",ENSP00000373700,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
BCL6_R538Q,BCL6,R538Q,missense,,,P41182-2,GOF_data_set_1049_PMID_combined
BRAF_A598V,BRAF,A598V,missense,gain of function - predicted ,19200582,P15056,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
BRAF_A728V,BRAF,A728V,missense,gain of function ,15035987,P15056,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
BRAF_E451K,BRAF,E451K,missense,gain of function - predicted ,"31158244,31158244, ",P15056,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
BRAF_E586K,BRAF,E586K,missense,gain of function ,"29533785,15035987, 22510884, 29533785",P15056,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
BRAF_F247L,BRAF,F247L,missense,gain of function ,"28512244, 29533785, ",P15056,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
BRAF_F468C,BRAF,F468C,missense,gain of function ,15150094,P15056,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
BRAF_G464E,BRAF,G464E,missense,gain of function ,"29533785,15035987, 23680146, ",P15056,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
BRAF_G464R,BRAF,G464R,missense,gain of function ,"15046639,29533785,15046639, 29533785",P15056,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
BRAF_G464V,BRAF,G464V,missense,gain of function ,"29533785,12068308, 26343582, 15150094, 15035987",P15056,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
BRAF_G466V,BRAF,G466V,missense,,"22649091, 28783719, 24202393, 16364920, 15035987, 16439621",NP_004324.2,GOF_data_set_1049_PMID_combined
BRAF_G469A,BRAF,G469A,missense,gain of function ,"19010912, 12068308, 29533785, 23833300, 22510884, 15035987, 22773810, 16439621",P15056,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
BRAF_G469R,BRAF,G469R,missense,gain of function - predicted ,"28783719,24920063,29533785,29533785, 26150740, 24920063, 16096377, 26343582, 26619011",P15056,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
BRAF_G469S,BRAF,G469S,missense,gain of function ,"27478040,29533785,27478040, 29533785, ",P15056,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
BRAF_G469V,BRAF,G469V,missense,gain of function ,"29533785,28947956, 26343582, 28783719, 25870796, 23401075",P15056,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
BRAF_G596R,BRAF,G596R,missense,,"19735675, 28783719, 29533785, 14678966, 16364920, 15035987",NP_004324.2,GOF_data_set_1049_PMID_combined
BRAF_H574Q,BRAF,H574Q,missense,gain of function ,"27478040,27478040, ",P15056,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
BRAF_I463S,BRAF,I463S,missense,gain of function ,"15035987,15035987, ",P15056,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
BRAF_K499E,BRAF,K499E,missense,gain of function ,"16474404, 18413255, 26065894, 16439621",P15056,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
BRAF_K601E,BRAF,K601E,missense,gain of function ,"15343278,29533785,22798288, 28783719, 24583796, 24933606, 26643848, 23248257, 15035987",P15056,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
BRAF_K601N,BRAF,K601N,missense,gain of function ,"2,443,421,229,533,780",,JAX_GOF_all
BRAF_K601Q,BRAF,K601Q,missense,gain of function ,19206169,,JAX_GOF_all
BRAF_K601T,BRAF,K601T,missense,gain of function - predicted ,"153,432,782,878,371,000,000,000",,JAX_GOF_all
BRAF_L485F,BRAF,L485F,missense,gain of function ,"16439621,16474404,29533785,16439621, 16474404, 29533785",P15056,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
BRAF_L485S,BRAF,L485S,missense,gain of function - predicted ,"1,841,325,531,925,410",,JAX_GOF_all
BRAF_L505F,BRAF,L505F,missense,gain of function ,,,JAX_GOF_all
BRAF_L505H,BRAF,L505H,missense,gain of function ,"24283590,24283590, 25515853, 24112705",P15056,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
BRAF_L514V,BRAF,L514V,missense,gain of function - predicted ,"29880583,29880583, ",P15056,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
BRAF_L525R,BRAF,L525R,missense,gain of function - predicted ,,,JAX_GOF_all
BRAF_L597Q,BRAF,L597Q,missense,gain of function ,"22798288,29533785,22798288, 26343582, 26643848",P15056,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
BRAF_L597R,BRAF,L597R,missense,gain of function ,"23715574,29533785,22798288, 26343582, 26643848",P15056,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
BRAF_L597S,BRAF,L597S,missense,gain of function ,"22798288,29533785,22798288, 29533785, 26643848",P15056,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
BRAF_L597V,BRAF,L597V,missense,gain of function ,"22798288,29533785,22798288, 26343582, 12068308, 26643848, 15035987",P15056,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
BRAF_P367R,BRAF,P367R,missense,gain of function ,"27478040,27478040, ",P15056,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
BRAF_Q257R,BRAF,Q257R,missense,gain of function ,"16474404, 16439621, 19376813",P15056,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
BRAF_S467A,BRAF,S467A,missense,gain of function ,"23680146, 16439621, 19376813",P15056,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
BRAF_T310I,BRAF,T310I,missense,gain of function - predicted ,"31158244,31158244, ",P15056,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
BRAF_T599I,BRAF,T599I,missense,gain of function ,"15035987,29533785,15035987, 29533785",P15056,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
BRAF_T599K,BRAF,T599K,missense,gain of function - predicted ,"31158244,31158244, ",P15056,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
BRAF_T599R,BRAF,T599R,missense,gain of function ,"19206169,19206169, 29533785, 25120313",P15056,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
BRAF_V600D,BRAF,V600D,missense,gain of function ,"15035987,15035987,15035987, 23317446, 20551065, 16273091, 12068308",P15056,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
BRAF_V600E,BRAF,V600E,missense,gain of function ,"15035987,16757326, 20179705, 16273091, 23153539, 12068308, 15035987",P15056,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
BRAF_V600G,BRAF,V600G,missense,gain of function ,"1,503,598,729,533,780",,JAX_GOF_all
BRAF_V600K,BRAF,V600K,missense,gain of function ,"15035987,16273091, 22663011, 12068308, 25265492, 24508103, 25287827, 25399551, 15035987",NP_004324.2,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
BRAF_V600M,BRAF,V600M,missense,gain of function - predicted ,"15035987,28783719,29533785,29533785, 23463675, 16273091, 12068308, 15035987, 25382067",P15056,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
BRAF_V600R,BRAF,V600R,missense,gain of function ,"15035987,15035987, 29533785, 16273091, 12068308, 23473613, 23490649",P15056,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
CCND1_P287T,CCND1,P287T,missense,,"9832503, 16732330, 12955092",P24385,GOF_data_set_1049_PMID_combined
CDK4_R24C,CDK4,R24C,missense,,"11606789, 11756559",ENSP00000257904,GOF_data_set_1049_PMID_combined
CSF1R_D802V,CSF1R,D802V,missense,,"10340379, 18971950, ",P07333,GOF_data_set_1049_PMID_combined
CSF1R_H362R,CSF1R,H362R,missense,,"25144241, ",P07333,GOF_data_set_1049_PMID_combined
CSF1R_L301S,CSF1R,L301S,missense,,"2157180, 2974321, ",P07333,GOF_data_set_1049_PMID_combined
CSF1R_Y571D,CSF1R,Y571D,missense,,"18971950, ",P07333,GOF_data_set_1049_PMID_combined
CSF1R_Y969F,CSF1R,Y969F,missense,,"18971950, ",P07333,GOF_data_set_1049_PMID_combined
CSF3R_E524A,CSF3R,E524A,missense,gain of function - predicted ,"29572350,29572350, ",ENSP00000362198,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
CSF3R_E524G,CSF3R,E524G,missense,gain of function - predicted ,"29572350,29572350, ",ENSP00000362198,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
CSF3R_E524K,CSF3R,E524K,missense,gain of function ,"29572350,29572350, ",ENSP00000362198,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
CSF3R_E524N,CSF3R,E524N,missense,gain of function - predicted ,"29572350,29572350, ",ENSP00000362198,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
CSF3R_K704A,CSF3R,K704A,missense,gain of function ,"28439110,28439110, ",ENSP00000362198,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
CSF3R_L776A,CSF3R,L776A,missense,gain of function ,"28439110,28439110, ",ENSP00000362198,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
CSF3R_L777A,CSF3R,L777A,missense,gain of function ,"28439110,28439110, ",ENSP00000362198,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
CSF3R_N579Y,CSF3R,N579Y,missense,gain of function ,36579444,,JAX_GOF_all
CSF3R_N610H,CSF3R,N610H,missense,gain of function ,"30348809,30348809, ",ENSP00000362198,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
CSF3R_N610Q,CSF3R,N610Q,missense,gain of function ,"30348809,30348809, ",ENSP00000362198,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
CSF3R_N610S,CSF3R,N610S,missense,gain of function - predicted ,"30348809,30348809, ",ENSP00000362198,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
CSF3R_S581C,CSF3R,S581C,missense,gain of function ,"29572350,29572350, ",ENSP00000362198,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
CSF3R_S772A,CSF3R,S772A,missense,gain of function ,"28439110,28439110, ",ENSP00000362198,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
CSF3R_T615A,CSF3R,T615A,missense,gain of function ,"23656643,24403076,24403076, 23656643, ",ENSP00000362198,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
CSF3R_T618I,CSF3R,T618I,missense,gain of function ,"23656643,23656643,31784538,23656643,31784538,23656643, 31784538, ",ENSP00000362198,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
CSF3R_T640N,CSF3R,T640N,missense,gain of function ,"26475333,26475333, ",ENSP00000362198,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
CSF3R_W341C,CSF3R,W341C,missense,gain of function ,"28652245,28652245, ",ENSP00000362198,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
CTNNB1_A13T,CTNNB1,A13T,missense,gain of function - predicted ,"12067995,12067995, ",ENSP00000344456,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
CTNNB1_A21T,CTNNB1,A21T,missense,gain of function - predicted ,"12067995, 11592102, ",ENSP00000344456,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
CTNNB1_A39G,CTNNB1,A39G,missense,gain of function - predicted ,"12067995,12067995, ",ENSP00000344456,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
CTNNB1_A39T,CTNNB1,A39T,missense,gain of function - predicted ,"12474227,12474227, ",ENSP00000344456,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
CTNNB1_A43P,CTNNB1,A43P,missense,gain of function - predicted ,"11148558,11148558, ",ENSP00000344456,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
CTNNB1_A43T,CTNNB1,A43T,missense,gain of function - predicted ,"11148558,11148558, ",ENSP00000344456,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
CTNNB1_D32A,CTNNB1,D32A,missense,gain of function ,"150,647,181,582,997,000,000,000",ENSP00000344456,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
CTNNB1_D32E,CTNNB1,D32E,missense,gain of function ,"14633602, 11950921, ",ENSP00000344456,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
CTNNB1_D32G,CTNNB1,D32G,missense,gain of function ,"15064718,15064718, 22298898, 9635572, 15064718, 9065402",ENSP00000344456,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
CTNNB1_D32H,CTNNB1,D32H,missense,gain of function - predicted ,"15064718,17163846,17163846, ",ENSP00000344456,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
CTNNB1_D32N,CTNNB1,D32N,missense,gain of function ,"15064718,15064718, 11955436, 9635572, 9065402",ENSP00000344456,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
CTNNB1_D32V,CTNNB1,D32V,missense,gain of function - predicted ,"15064718,10597262, 25431235, ",ENSP00000344456,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
CTNNB1_D32Y,CTNNB1,D32Y,missense,gain of function ,"15064718,15064718, 10987273, 9635572, 9065402",ENSP00000344456,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
CTNNB1_E54K,CTNNB1,E54K,missense,gain of function - predicted ,"12474227,12474227, ",ENSP00000344456,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
CTNNB1_E67K,CTNNB1,E67K,missense,gain of function ,"11592102,11592102, ",ENSP00000344456,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
CTNNB1_G34A,CTNNB1,G34A,missense,gain of function ,"15064718,15829978,15829978, 9635572, 9065402",ENSP00000344456,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
CTNNB1_G34E,CTNNB1,G34E,missense,gain of function - predicted ,"15064718,18519687,18519687, 9635572, 10671680, 9065402",ENSP00000344456,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
CTNNB1_G34R,CTNNB1,G34R,missense,gain of function - predicted ,"15064718,10597262, 10671680, ",ENSP00000344456,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
CTNNB1_G34V,CTNNB1,G34V,missense,gain of function - predicted ,"15064718,9671767,9671767, 9635572, 10671680, 9065402",ENSP00000344456,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
CTNNB1_G38P,CTNNB1,G38P,missense,gain of function - predicted ,"9065402,17163846,17163846, ",ENSP00000344456,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
CTNNB1_G48D,CTNNB1,G48D,missense,gain of function - predicted ,"11559529,11559529, ",ENSP00000344456,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
CTNNB1_H36P,CTNNB1,H36P,missense,gain of function ,"18282277,18282277, 9635572, 24735922, 9065402",ENSP00000344456,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
CTNNB1_H36R,CTNNB1,H36R,missense,gain of function ,30315137,,JAX_GOF_all
CTNNB1_H36Y,CTNNB1,H36Y,missense,gain of function - predicted ,"11276007, 17163846, ",ENSP00000344456,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
CTNNB1_I35N,CTNNB1,I35N,missense,gain of function - predicted ,"15064718,10487827,10487827, ",ENSP00000344456,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
CTNNB1_I35S,CTNNB1,I35S,missense,gain of function - predicted ,"15064718,18282277,18282277, 12375019, 9635572, 24735922, 9065402, 10665646",ENSP00000344456,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
CTNNB1_I35T,CTNNB1,I35T,missense,gain of function - predicted ,"15064718,15943036,15943036, ",ENSP00000344456,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
CTNNB1_K335I,CTNNB1,K335I,missense,gain of function ,"31857074,31857074,24735922, 15579438, 31857074, 9635572, 9065402",ENSP00000344456,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
CTNNB1_K335T,CTNNB1,K335T,missense,gain of function - predicted ,"31857074,31857074, ",ENSP00000344456,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
CTNNB1_N387K,CTNNB1,N387K,missense,gain of function ,"31857074,27177928,31857074,27177928, 31857074, 9635572, 24735922, 9065402",ENSP00000344456,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
CTNNB1_P44A,CTNNB1,P44A,missense,gain of function - predicted ,"18282277,18282277, 9635572, 9065402",ENSP00000344456,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
CTNNB1_P44L,CTNNB1,P44L,missense,gain of function ,31970420,,JAX_GOF_all
CTNNB1_P44S,CTNNB1,P44S,missense,gain of function - predicted ,12925738,,JAX_GOF_all
CTNNB1_R376H,CTNNB1,R376H,missense,gain of function - predicted ,"31857074,31857074, ",ENSP00000344456,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
CTNNB1_S33A,CTNNB1,S33A,missense,gain of function ,"15,064,718,158,299,700,000,000,000,000,000",ENSP00000344456,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
CTNNB1_S33C,CTNNB1,S33C,missense,gain of function ,"15064718,10076565, 21881488, 19582367, 9635572, 19582367, 9065402",ENSP00000344456,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
CTNNB1_S33F,CTNNB1,S33F,missense,gain of function ,"15064718,27543871,31857074,10597262, 10213482, 9635572, 15829978, 27543871, 18757411, 19582367, 9065402",ENSP00000344456,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
CTNNB1_S33L,CTNNB1,S33L,missense,,"19582367, 18757411, 15829978, ",ENSP00000344456,GOF_data_set_1049_PMID_combined
CTNNB1_S33N,CTNNB1,S33N,missense,gain of function - predicted ,"15064718,11276007,11276007, ",ENSP00000344456,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
CTNNB1_S33P,CTNNB1,S33P,missense,gain of function - predicted ,"15064718,11731417,11731417, ",ENSP00000344456,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
CTNNB1_S33T,CTNNB1,S33T,missense,,"19582367, 18757411, 15829978, ",ENSP00000344456,GOF_data_set_1049_PMID_combined
CTNNB1_S33Y,CTNNB1,S33Y,missense,gain of function ,"15064718,18757411,18757411, 9635572, 24735922, 9065402",ENSP00000344456,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
CTNNB1_S37A,CTNNB1,S37A,missense,gain of function ,"10347231,10347231,10347231, 15579438, 9635572, 9065402",ENSP00000344456,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
CTNNB1_S37C,CTNNB1,S37C,missense,gain of function - predicted ,"10347231,33987379,33987379,12754743, 10433945, 9635572, 9537226, 9065402",ENSP00000344456,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
CTNNB1_S37F,CTNNB1,S37F,missense,gain of function ,"10347231,31857074,29106415,29106415, 9635572, 22815287, 20303878, 9537226, 9065403, 9065402",ENSP00000344456,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
CTNNB1_S37P,CTNNB1,S37P,missense,,"9671767, 10347231, ",ENSP00000344456,GOF_data_set_1049_PMID_combined
CTNNB1_S37T,CTNNB1,S37T,missense,,"9065403, 11196159, 11943721, ",ENSP00000344456,GOF_data_set_1049_PMID_combined
CTNNB1_S37Y,CTNNB1,S37Y,missense,gain of function ,"10347231,9065403,29313411,9065403, 20606007, 9635572, 9065402",ENSP00000344456,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
CTNNB1_S45A,CTNNB1,S45A,missense,gain of function ,"19321622,19321622, 12799363",ENSP00000344456,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
CTNNB1_S45C,CTNNB1,S45C,missense,,"15579438, 23258168, ",ENSP00000344456,GOF_data_set_1049_PMID_combined
CTNNB1_S45F,CTNNB1,S45F,missense,gain of function ,"18282277,18282277, 9635572, 26686699, 9065402",ENSP00000344456,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
CTNNB1_S45N,CTNNB1,S45N,missense,,"15579438, 23258168, ",ENSP00000344456,GOF_data_set_1049_PMID_combined
CTNNB1_S45P,CTNNB1,S45P,missense,gain of function ,"9065403, 15133491, 9635572, 24735922, 18282277, 9065402",ENSP00000344456,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
CTNNB1_S45Y,CTNNB1,S45Y,missense,gain of function ,"9065403, 10487827, 9635572, 9065402, 9419974",ENSP00000344456,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
CTNNB1_T41A,CTNNB1,T41A,missense,gain of function ,"10698519, 9635572, 24735922, 12799363, 9065402",ENSP00000344456,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
CTNNB1_T41I,CTNNB1,T41I,missense,gain of function - predicted ,"10213482,10213482, ",ENSP00000344456,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
CTNNB1_V22A,CTNNB1,V22A,missense,gain of function - predicted ,"12027456,10213482, 12474227, ",ENSP00000344456,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
CTNNB1_W383G,CTNNB1,W383G,missense,gain of function - predicted ,"31857074,31857074, ",ENSP00000344456,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
CTNNB1_W383R,CTNNB1,W383R,missense,gain of function ,"31857074,24735922, 15579438, 31857074, 9635572, 9065402",ENSP00000344456,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
DDR2_G253C,DDR2,G253C,missense,,"22328973, 23335507",ENSP00000356898,GOF_data_set_1049_PMID_combined
DDR2_G505S,DDR2,G505S,missense,,"22328973, 23822953",ENSP00000356898,GOF_data_set_1049_PMID_combined
DDR2_G774V,DDR2,G774V,missense,,22328973,ENSP00000356898,GOF_data_set_1049_PMID_combined
DDR2_I638F,DDR2,I638F,missense,,"28161936, 22328973, ",ENSP00000356898,GOF_data_set_1049_PMID_combined
DDR2_L239R,DDR2,L239R,missense,,"22328973, 23335507",ENSP00000356898,GOF_data_set_1049_PMID_combined
DDR2_L595P,DDR2,L595P,missense,,"28161936, ",ENSP00000356898,GOF_data_set_1049_PMID_combined
DDR2_L610P,DDR2,L610P,missense,,"30449416, ",ENSP00000356898,GOF_data_set_1049_PMID_combined
DDR2_L63V,DDR2,L63V,missense,,"22328973, 23822953",ENSP00000356898,GOF_data_set_1049_PMID_combined
DDR2_S768R,DDR2,S768R,missense,,"26826182, 22328973, 25173530",ENSP00000356898,GOF_data_set_1049_PMID_combined
DDR2_V582E,DDR2,V582E,missense,,"28161936, ",ENSP00000356898,GOF_data_set_1049_PMID_combined
DDR2_Y740C,DDR2,Y740C,missense,,"30449416, ",ENSP00000356898,GOF_data_set_1049_PMID_combined
DNMT3A_F772A,DNMT3A,F772A,missense,gain of function - predicted ,36528185,,JAX_GOF_all
EGFR_A244D,EGFR,A244D,missense,,,ENSP00000415559,GOF_data_set_1049_PMID_combined
EGFR_A244V,EGFR,A244V,missense,,,ENSP00000415559,GOF_data_set_1049_PMID_combined
EGFR_A289D,EGFR,A289D,missense,,"22588883, ",ENSP00000275493,GOF_data_set_1049_PMID_combined
EGFR_A289V,EGFR,A289V,missense,,"17177598, 29533785, 24120142, 22588883",ENSP00000275493,GOF_data_set_1049_PMID_combined
EGFR_D761N,EGFR,D761N,missense,,"19147750, 29533785, 26870223",ENSP00000275493,GOF_data_set_1049_PMID_combined
EGFR_E709A,EGFR,E709A,missense,,"19671738, 29533785, 21531810, 23242437, 18261621, 23566546, 22483783, 23749122, 20479403, 15710947, 18372921, 21841502",ENSP00000275493,GOF_data_set_1049_PMID_combined
EGFR_E709G,EGFR,E709G,missense,,"16205628, 21531810, 26051236, 23912954",ENSP00000275493,GOF_data_set_1049_PMID_combined
EGFR_E709K,EGFR,E709K,missense,,"19726454, 29533785, 23566546, 18000506, 25179728, 25130612, 23749122, 15710947, 26206867",ENSP00000275493,GOF_data_set_1049_PMID_combined
EGFR_E746K,EGFR,E746K,missense,,"24743239, ",ENSP00000275493,GOF_data_set_1049_PMID_combined
EGFR_G553V,EGFR,G553V,missense,,,ENSP00000415559,GOF_data_set_1049_PMID_combined
EGFR_G598V,EGFR,G598V,missense,,"17177598, 24120142, 22588883",ENSP00000275493,GOF_data_set_1049_PMID_combined
EGFR_G674S,EGFR,G674S,missense,,,ENSP00000415559,GOF_data_set_1049_PMID_combined
EGFR_G719A,EGFR,G719A,missense,,"26206867, 29533785, 21531810",ENSP00000275493,GOF_data_set_1049_PMID_combined
EGFR_G719C,EGFR,G719C,missense,,"19671738, 21531810, 15118073, 19147750, 18261621, 26206867, 21841502",ENSP00000275493,GOF_data_set_1049_PMID_combined
EGFR_G719S,EGFR,G719S,missense,,"16204070, 24894453, 18573086, 29533785, 21531810, 16187797, 26206867",ENSP00000275493,GOF_data_set_1049_PMID_combined
EGFR_G724S,EGFR,G724S,missense,,"24894453, 16166444, 24743239",ENSP00000275493,GOF_data_set_1049_PMID_combined
EGFR_L62R,EGFR,L62R,missense,,,ENSP00000415559,GOF_data_set_1049_PMID_combined
EGFR_L747S,EGFR,L747S,missense,,"29533785, 17973572, 18309959, 18645621, 19632948, 18981003",ENSP00000275493,GOF_data_set_1049_PMID_combined
EGFR_L813R,EGFR,L813R,missense,,,ENSP00000415559,GOF_data_set_1049_PMID_combined
EGFR_L816Q,EGFR,L816Q,missense,,,ENSP00000415559,GOF_data_set_1049_PMID_combined
EGFR_L833V,EGFR,L833V,missense,,"29533785, 16205628, 21949883, 23912954, 25130612, 20808254, 21422421",ENSP00000275493,GOF_data_set_1049_PMID_combined
EGFR_L858R,EGFR,L858R,missense,,"29533785, 28979142, 15118073, 15329413, 15118125",ENSP00000275493,GOF_data_set_1049_PMID_combined
EGFR_L861Q,EGFR,L861Q,missense,,"23387505, 21252719, 21531810, 18508816, 16467085, 17177598, 25668120, 21841502, 15897572, 19536777, 18325048, 19147750, 26051236, 18676761, 23912954, 24457318, 22760226, 20808254, 23749122, 24285021",ENSP00000275493,GOF_data_set_1049_PMID_combined
EGFR_P708S,EGFR,P708S,missense,,,ENSP00000415559,GOF_data_set_1049_PMID_combined
EGFR_R108K,EGFR,R108K,missense,,"24120142, 17177598",ENSP00000415559,GOF_data_set_1049_PMID_combined
EGFR_R252P,EGFR,R252P,missense,,"29533785, ",ENSP00000275493,GOF_data_set_1049_PMID_combined
EGFR_R406C,EGFR,R406C,missense,,,ENSP00000415559,GOF_data_set_1049_PMID_combined
EGFR_R776H,EGFR,R776H,missense,,"23358982, 23242437, 20512075",ENSP00000275493,GOF_data_set_1049_PMID_combined
EGFR_S723I,EGFR,S723I,missense,,,ENSP00000415559,GOF_data_set_1049_PMID_combined
EGFR_S768I,EGFR,S768I,missense,,"24353160, 19536777, 16205628, 25521406, 25521405, 23242437, 19147750, 18676761, 23912954, 25179728, 25130612",ENSP00000275493,GOF_data_set_1049_PMID_combined
EGFR_T745M,EGFR,T745M,missense,,,ENSP00000415559,GOF_data_set_1049_PMID_combined
EGFR_T790M,EGFR,T790M,missense,,"30952700, 15728811, 18227510, 15737014",ENSP00000275493,GOF_data_set_1049_PMID_combined
EGFR_V769L,EGFR,V769L,missense,,"29533785, ",ENSP00000275493,GOF_data_set_1049_PMID_combined
EML4_ALK,EML4,ALK,missense,gain of function ,26755435,,JAX_GOF_all
ERBB2_A466V,ERBB2,A466V,missense,,"28164408, ",ENSP00000269571,GOF_data_set_1049_PMID_combined
ERBB2_A710V,ERBB2,A710V,missense,,"30449325, ",ENSP00000269571,GOF_data_set_1049_PMID_combined
ERBB2_C311R,ERBB2,C311R,missense,,"22908275, 18772890",ENSP00000269571,GOF_data_set_1049_PMID_combined
ERBB2_C334S,ERBB2,C334S,missense,,"22908275, 18772890",ENSP00000269571,GOF_data_set_1049_PMID_combined
ERBB2_C515R,ERBB2,C515R,missense,,"28164408, ",ENSP00000269571,GOF_data_set_1049_PMID_combined
ERBB2_D769Y,ERBB2,D769Y,missense,,"23220880, 29967253, 31588020",ENSP00000269571,GOF_data_set_1049_PMID_combined
ERBB2_D821N,ERBB2,D821N,missense,,18413839,ENSP00000269571,GOF_data_set_1049_PMID_combined
ERBB2_E321G,ERBB2,E321G,missense,,"22908275, 29533785, 18772890",ENSP00000269571,GOF_data_set_1049_PMID_combined
ERBB2_E693K,ERBB2,E693K,missense,,"30449325, ",ENSP00000269571,GOF_data_set_1049_PMID_combined
ERBB2_E717D,ERBB2,E717D,missense,,"31046123, ",ENSP00000269571,GOF_data_set_1049_PMID_combined
ERBB2_E936K,ERBB2,E936K,missense,,"33323455, ",ENSP00000269571,GOF_data_set_1049_PMID_combined
ERBB2_G292R,ERBB2,G292R,missense,,24997986,ENSP00000269571,GOF_data_set_1049_PMID_combined
ERBB2_G660D,ERBB2,G660D,missense,,"26545934, 30449325, 24317180",ENSP00000269571,GOF_data_set_1049_PMID_combined
ERBB2_G660R,ERBB2,G660R,missense,,"30449325, ",ENSP00000269571,GOF_data_set_1049_PMID_combined
ERBB2_G776R,ERBB2,G776R,missense,,"28164408, ",ENSP00000269571,GOF_data_set_1049_PMID_combined
ERBB2_G776S,ERBB2,G776S,missense,,18039657,ENSP00000269571,GOF_data_set_1049_PMID_combined
ERBB2_G776V,ERBB2,G776V,missense,,"29967253, 29533785, ",ENSP00000269571,GOF_data_set_1049_PMID_combined
ERBB2_H878Y,ERBB2,H878Y,missense,,"22046346, 25853726",ENSP00000269571,GOF_data_set_1049_PMID_combined
ERBB2_L1157R,ERBB2,L1157R,missense,,"32366937, ",ENSP00000269571,GOF_data_set_1049_PMID_combined
ERBB2_L726F,ERBB2,L726F,missense,,"25435280, 18413839",ENSP00000269571,GOF_data_set_1049_PMID_combined
ERBB2_L755P,ERBB2,L755P,missense,,"22046346, 29967253, 31588020",ENSP00000269571,GOF_data_set_1049_PMID_combined
ERBB2_L755S,ERBB2,L755S,missense,,"29967253, 22046346, 18413839, 23220880",ENSP00000269571,GOF_data_set_1049_PMID_combined
ERBB2_L768S,ERBB2,L768S,missense,,"27697991, ",ENSP00000269571,GOF_data_set_1049_PMID_combined
ERBB2_L786V,ERBB2,L786V,missense,,"31588020, ",ENSP00000269571,GOF_data_set_1049_PMID_combined
ERBB2_L841I,ERBB2,L841I,missense,,"30279230, ",ENSP00000269571,GOF_data_set_1049_PMID_combined
ERBB2_L841V,ERBB2,L841V,missense,,"29533785, 29967253, ",ENSP00000269571,GOF_data_set_1049_PMID_combined
ERBB2_L866M,ERBB2,L866M,missense,,26243863,ENSP00000269571,GOF_data_set_1049_PMID_combined
ERBB2_L869R,ERBB2,L869R,missense,,"31588020, 27900369, 21531810, 26305917, 16397024, 28274957",ENSP00000269571,GOF_data_set_1049_PMID_combined
ERBB2_N857S,ERBB2,N857S,missense,,22046346,ENSP00000269571,GOF_data_set_1049_PMID_combined
ERBB2_P1074S,ERBB2,P1074S,missense,,"28164408, ",ENSP00000269571,GOF_data_set_1049_PMID_combined
ERBB2_Q679L,ERBB2,Q679L,missense,,"31046123, ",ENSP00000269571,GOF_data_set_1049_PMID_combined
ERBB2_Q709L,ERBB2,Q709L,missense,,"30449325, ",ENSP00000269571,GOF_data_set_1049_PMID_combined
ERBB2_R188C,ERBB2,R188C,missense,,"32366937, ",ENSP00000269571,GOF_data_set_1049_PMID_combined
ERBB2_R677L,ERBB2,R677L,missense,,"30449325, ",ENSP00000269571,GOF_data_set_1049_PMID_combined
ERBB2_R678Q,ERBB2,R678Q,missense,,"24971884, 23220880",ENSP00000269571,GOF_data_set_1049_PMID_combined
ERBB2_R678W,ERBB2,R678W,missense,,"30449325, ",ENSP00000269571,GOF_data_set_1049_PMID_combined
ERBB2_R896C,ERBB2,R896C,missense,,23220880,ENSP00000269571,GOF_data_set_1049_PMID_combined
ERBB2_R897G,ERBB2,R897G,missense,,"28164408, ",ENSP00000269571,GOF_data_set_1049_PMID_combined
ERBB2_S310F,ERBB2,S310F,missense,,"24516025, 24997986, 22908275, 26358791",ENSP00000269571,GOF_data_set_1049_PMID_combined
ERBB2_S310Y,ERBB2,S310Y,missense,,"22908275, 29967253, 29954840, 24516025, 24997986, 26358791",ENSP00000269571,GOF_data_set_1049_PMID_combined
ERBB2_S423R,ERBB2,S423R,missense,,"31046123, ",ENSP00000269571,GOF_data_set_1049_PMID_combined
ERBB2_S653C,ERBB2,S653C,missense,,"24971884, 30449325",ENSP00000269571,GOF_data_set_1049_PMID_combined
ERBB2_S656C,ERBB2,S656C,missense,,"30449325, ",ENSP00000269571,GOF_data_set_1049_PMID_combined
ERBB2_T216S,ERBB2,T216S,missense,,"22908275, ",ENSP00000269571,GOF_data_set_1049_PMID_combined
ERBB2_T526A,ERBB2,T526A,missense,,"28164408, ",ENSP00000269571,GOF_data_set_1049_PMID_combined
ERBB2_T798I,ERBB2,T798I,missense,,,ENSP00000269571,GOF_data_set_1049_PMID_combined
ERBB2_T798M,ERBB2,T798M,missense,,"22046346, 23948973, 29533785",ENSP00000269571,GOF_data_set_1049_PMID_combined
ERBB2_T862A,ERBB2,T862A,missense,,"22046346, 29533785, 29967253",ENSP00000269571,GOF_data_set_1049_PMID_combined
ERBB2_T862R,ERBB2,T862R,missense,,"28164408, ",ENSP00000269571,GOF_data_set_1049_PMID_combined
ERBB2_V659E,ERBB2,V659E,missense,,"16489002, 15753384, 30449325, 29533785, 1671296, 7821711",ENSP00000269571,GOF_data_set_1049_PMID_combined
ERBB2_V754M,ERBB2,V754M,missense,,"31588020, ",ENSP00000269571,GOF_data_set_1049_PMID_combined
ERBB2_V773A,ERBB2,V773A,missense,,"22046346, 26619011, 16299242",ENSP00000269571,GOF_data_set_1049_PMID_combined
ERBB2_V773L,ERBB2,V773L,missense,,"27697991, ",ENSP00000269571,GOF_data_set_1049_PMID_combined
ERBB2_V777L,ERBB2,V777L,missense,,"29967253, 24516025, 22046346, 23220880",ENSP00000269571,GOF_data_set_1049_PMID_combined
ERBB2_V777M,ERBB2,V777M,missense,,,ENSP00000269571,GOF_data_set_1049_PMID_combined
ERBB2_V842I,ERBB2,V842I,missense,,"24997986, 23220880",ENSP00000269571,GOF_data_set_1049_PMID_combined
ERBB2_Y803H,ERBB2,Y803H,missense,,"29533785, 30352910, ",ENSP00000269571,GOF_data_set_1049_PMID_combined
ERBB3_D297Y,ERBB3,D297Y,missense,,,ENSP00000267101,GOF_data_set_1049_PMID_combined
ERBB3_E332K,ERBB3,E332K,missense,,,ENSP00000267101,GOF_data_set_1049_PMID_combined
ERBB3_E928G,ERBB3,E928G,missense,,23680147,ENSP00000267101,GOF_data_set_1049_PMID_combined
ERBB3_G284R,ERBB3,G284R,missense,,23680147,ENSP00000267101,GOF_data_set_1049_PMID_combined
ERBB3_P262H,ERBB3,P262H,missense,,23680147,ENSP00000267101,GOF_data_set_1049_PMID_combined
ERBB3_T355I,ERBB3,T355I,missense,,,ENSP00000267101,GOF_data_set_1049_PMID_combined
ERBB3_V104L,ERBB3,V104L,missense,,23680147,ENSP00000267101,GOF_data_set_1049_PMID_combined
ERBB3_V104M,ERBB3,V104M,missense,,23680147,ENSP00000267101,GOF_data_set_1049_PMID_combined
ERBB4_D595V,ERBB4,D595V,missense,,26050618,ENSP00000342235,GOF_data_set_1049_PMID_combined
ERBB4_D931Y,ERBB4,D931Y,missense,,26050618,ENSP00000342235,GOF_data_set_1049_PMID_combined
ERBB4_E317K,ERBB4,E317K,missense,,19718025,ENSP00000342235,GOF_data_set_1049_PMID_combined
ERBB4_E452K,ERBB4,E452K,missense,,19718025,ENSP00000342235,GOF_data_set_1049_PMID_combined
ERBB4_E542K,ERBB4,E542K,missense,,19718025,ENSP00000342235,GOF_data_set_1049_PMID_combined
ERBB4_E563K,ERBB4,E563K,missense,,19718025,ENSP00000342235,GOF_data_set_1049_PMID_combined
ERBB4_E836K,ERBB4,E836K,missense,,19718025,ENSP00000342235,GOF_data_set_1049_PMID_combined
ERBB4_E872K,ERBB4,E872K,missense,,19718025,ENSP00000342235,GOF_data_set_1049_PMID_combined
ERBB4_G1109C,ERBB4,G1109C,missense,,"27207775, ",ENSP00000342235,GOF_data_set_1049_PMID_combined
ERBB4_K935I,ERBB4,K935I,missense,,26050618,ENSP00000342235,GOF_data_set_1049_PMID_combined
ERBB4_N181S,ERBB4,N181S,missense,,"26050618, ",ENSP00000342235,GOF_data_set_1049_PMID_combined
ERBB4_P1033S,ERBB4,P1033S,missense,,"31053301, ",ENSP00000342235,GOF_data_set_1049_PMID_combined
ERBB4_P377R,ERBB4,P377R,missense,,"30975989, ",ENSP00000342235,GOF_data_set_1049_PMID_combined
ERBB4_R306S,ERBB4,R306S,missense,,26050618,ENSP00000342235,GOF_data_set_1049_PMID_combined
ERBB4_R544W,ERBB4,R544W,missense,,19718025,ENSP00000342235,GOF_data_set_1049_PMID_combined
ERBB4_V391I,ERBB4,V391I,missense,,"30975989, ",ENSP00000342235,GOF_data_set_1049_PMID_combined
ERBB4_Y285C,ERBB4,Y285C,missense,,26050618,ENSP00000342235,GOF_data_set_1049_PMID_combined
EZH2_A677G,EZH2,A677G,missense,,"22323599, 25253781, ",ENSP00000419711,GOF_data_set_1049_PMID_combined
EZH2_A682G,EZH2,A682G,missense,,"22323599, 25253781, ",ENSP00000320147,GOF_data_set_1049_PMID_combined
EZH2_A687V,EZH2,A687V,missense,,"22850114, 25253781, ",ENSP00000419711,GOF_data_set_1049_PMID_combined
EZH2_A692V,EZH2,A692V,missense,,"22850114, 25253781, ",ENSP00000320147,GOF_data_set_1049_PMID_combined
EZH2_S21A,EZH2,S21A,missense,,"23684459, 16224021, ",ENSP00000320147,GOF_data_set_1049_PMID_combined
EZH2_S21D,EZH2,S21D,missense,,"23239736, 16224021, 23684459, ",ENSP00000320147,GOF_data_set_1049_PMID_combined
EZH2_Y641C,EZH2,Y641C,missense,,"21856302, 22323599, ",ENSP00000419711,GOF_data_set_1049_PMID_combined
EZH2_Y641F,EZH2,Y641F,missense,,"21190999, 21078963, 22323599, 25253781, ",ENSP00000419711,GOF_data_set_1049_PMID_combined
EZH2_Y641H,EZH2,Y641H,missense,,"21078963, 26735435, 22323599, ",ENSP00000419711,GOF_data_set_1049_PMID_combined
EZH2_Y641N,EZH2,Y641N,missense,,"21190999, 21078963, 22323599, 25253781, ",ENSP00000419711,GOF_data_set_1049_PMID_combined
EZH2_Y641S,EZH2,Y641S,missense,,"21190999, 21078963, 22323599, ",ENSP00000419711,GOF_data_set_1049_PMID_combined
EZH2_Y646C,EZH2,Y646C,missense,,"21856302, 22323599, ",ENSP00000320147,GOF_data_set_1049_PMID_combined
EZH2_Y646F,EZH2,Y646F,missense,,"21190999, 24563539, 30692681, ",ENSP00000320147,GOF_data_set_1049_PMID_combined
EZH2_Y646H,EZH2,Y646H,missense,,"21078963, 26735435, 22323599, ",ENSP00000320147,GOF_data_set_1049_PMID_combined
EZH2_Y646N,EZH2,Y646N,missense,,"22194861, 30692681, 25493630, ",ENSP00000320147,GOF_data_set_1049_PMID_combined
EZH2_Y646S,EZH2,Y646S,missense,,"21190999, 21078963, 22323599, ",ENSP00000320147,GOF_data_set_1049_PMID_combined
FGFR1_C178S,FGFR1,C178S,missense,gain of function - predicted ,"27596331,27596331, ",ENSP00000400162,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
FGFR1_C379R,FGFR1,C379R,missense,gain of function ,"26272615,26272615,26272615, ",P11362-7,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
FGFR1_C381R,FGFR1,C381R,missense,gain of function - predicted ,"30385747,26272615,30385747, 26272615, ",ENSP00000400162,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
FGFR1_D647N,FGFR1,D647N,missense,gain of function - predicted ,34826586,,JAX_GOF_all
FGFR1_I544V,FGFR1,I544V,missense,gain of function - predicted ,"28166054,28166054, ",ENSP00000400162,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
FGFR1_K656E,FGFR1,K656E,missense,gain of function ,"23817572,23817572, 15509736",ENSP00000400162,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
FGFR1_K656M,FGFR1,K656M,missense,gain of function - predicted ,34272467,,JAX_GOF_all
FGFR1_L614V,FGFR1,L614V,missense,gain of function - predicted ,"28166054,28166054, ",ENSP00000400162,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
FGFR1_N546K,FGFR1,N546K,missense,gain of function ,"34272467,35488346,26179511, 23817572, 29533785, 24777483, 24806303, 19224897, 24705251, 22820256, 16186508, 23817572, 24140581, 14602678",ENSP00000400162,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
FGFR1_P252S,FGFR1,P252S,missense,gain of function - predicted ,"18056464,18056464, ",ENSP00000400162,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
FGFR1_P252T,FGFR1,P252T,missense,gain of function - predicted ,"18056464,18056464, ",ENSP00000400162,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
FGFR1_T695A,FGFR1,T695A,missense,gain of function - predicted ,"29533785,29533785, ",ENSP00000400162,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
FGFR1_V561M,FGFR1,V561M,missense,gain of function ,"30257990,25686244, 15157880, 28646488, 30257990",ENSP00000400162,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
FGFR1_Y372C,FGFR1,Y372C,missense,gain of function - predicted ,"15625620,15625620, ",P11362-20,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
FGFR1_Y374C,FGFR1,Y374C,missense,gain of function - predicted ,"15625620,15625620, ",ENSP00000400162,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
FGFR2_A264T,FGFR2,A264T,missense,gain of function - predicted ,34272467,,JAX_GOF_all
FGFR2_A67V,FGFR2,A67V,missense,gain of function - predicted ,34272467,,JAX_GOF_all
FGFR2_C342R,FGFR2,C342R,missense,gain of function - predicted ,"27596331,27596331, ",ENSP00000351276,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
FGFR2_C342Y,FGFR2,C342Y,missense,gain of function ,"10851026, 15316116, ",ENSP00000351276,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
FGFR2_C382R,FGFR2,C382R,missense,gain of function ,"34272467,24993163,24993163, 9136983, 17525745",ENSP00000351276,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
FGFR2_C383R,FGFR2,C383R,missense,gain of function - predicted ,"9136983,9136983, ",P21802-3,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
FGFR2_C62Y,FGFR2,C62Y,missense,gain of function - predicted ,34272467,,JAX_GOF_all
FGFR2_D101Y,FGFR2,D101Y,missense,gain of function ,"3,427,246,718,552,170",ENSP00000351276,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
FGFR2_D650A,FGFR2,D650A,missense,gain of function - predicted ,"28166054,28166054, ",ENSP00000351276,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
FGFR2_D650I,FGFR2,D650I,missense,gain of function - predicted ,"28166054,28166054, ",ENSP00000351276,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
FGFR2_D650L,FGFR2,D650L,missense,gain of function - predicted ,"28166054,28166054, ",ENSP00000351276,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
FGFR2_D650V,FGFR2,D650V,missense,gain of function - predicted ,"28166054,28166054, ",ENSP00000351276,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
FGFR2_E160K,FGFR2,E160K,missense,gain of function - predicted ,34272467,,JAX_GOF_all
FGFR2_E163K,FGFR2,E163K,missense,gain of function - predicted ,34272467,,JAX_GOF_all
FGFR2_E565A,FGFR2,E565A,missense,gain of function ,"31911531,31911531, 17803937, 28166054, ",ENSP00000351276,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
FGFR2_E565G,FGFR2,E565G,missense,gain of function ,"17803937,17803937, 23908597",ENSP00000351276,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
FGFR2_E566A,FGFR2,E566A,missense,gain of function ,"31109923,17803937, 28166054, 31109923, ",P21802-3,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
FGFR2_E566G,FGFR2,E566G,missense,gain of function ,"23908597,23908597, ",P21802-3,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
FGFR2_E718K,FGFR2,E718K,missense,gain of function - predicted ,34272467,,JAX_GOF_all
FGFR2_F276C,FGFR2,F276C,missense,gain of function ,"30761385,30761385, ",ENSP00000351276,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
FGFR2_G364E,FGFR2,G364E,missense,gain of function - predicted ,34272467,,JAX_GOF_all
FGFR2_G663E,FGFR2,G663E,missense,gain of function ,"17803937,17803937, ",ENSP00000351276,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
FGFR2_H416R,FGFR2,H416R,missense,gain of function - predicted ,34272467,,JAX_GOF_all
FGFR2_H544Q,FGFR2,H544Q,missense,gain of function - predicted ,34272467,,JAX_GOF_all
FGFR2_I422V,FGFR2,I422V,missense,gain of function - predicted ,34272467,,JAX_GOF_all
FGFR2_I547V,FGFR2,I547V,missense,gain of function ,"28166054, 23908597",ENSP00000351276,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
FGFR2_I548V,FGFR2,I548V,missense,gain of function ,"23908597,23908597, ",ENSP00000351276,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
FGFR2_K310R,FGFR2,K310R,missense,gain of function - predicted ,34272467,,JAX_GOF_all
FGFR2_K525E,FGFR2,K525E,missense,gain of function ,17803937,P21802-15,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
FGFR2_K526E,FGFR2,K526E,missense,gain of function - predicted ,"17803937,17803937, 16061565",ENSP00000351276,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
FGFR2_K641N,FGFR2,K641N,missense,gain of function ,23908597,ENSP00000351276,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
FGFR2_K641R,FGFR2,K641R,missense,gain of function ,"23527311,23527311, 17803937",ENSP00000351276,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
FGFR2_K642R,FGFR2,K642R,missense,gain of function ,"23527311,23527311, ",P21802-3,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
FGFR2_K659E,FGFR2,K659E,missense,gain of function ,"34272467,23786770,19403560,23786770, 17525745",ENSP00000351276,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
FGFR2_K659M,FGFR2,K659M,missense,gain of function - predicted ,"28166054,28166054, ",ENSP00000351276,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
FGFR2_K659N,FGFR2,K659N,missense,gain of function ,"34272467,23527311,34272467,23527311, 17803937, 17525745",ENSP00000351276,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
FGFR2_K660E,FGFR2,K660E,missense,gain of function ,"23786770,23786770, ",P21802-3,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
FGFR2_K660N,FGFR2,K660N,missense,gain of function ,"23527311,23527311, ",P21802-3,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
FGFR2_L560F,FGFR2,L560F,missense,gain of function - predicted ,34272467,,JAX_GOF_all
FGFR2_L617V,FGFR2,L617V,missense,gain of function - predicted ,"28034880,28166054,28034880, 28166054, ",ENSP00000351276,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
FGFR2_L618M,FGFR2,L618M,missense,gain of function ,"23908597,28166054,23908597, 28166054, ",P21802-3,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
FGFR2_L618V,FGFR2,L618V,missense,gain of function - predicted ,"28034880,28166054,28034880, 28166054, ",P21802-3,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
FGFR2_M536I,FGFR2,M536I,missense,gain of function ,"23908597,23908597, ",P21802-5,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
FGFR2_M537I,FGFR2,M537I,missense,gain of function - predicted ,"28166054,28166054, 23908597",ENSP00000351276,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
FGFR2_M538I,FGFR2,M538I,missense,gain of function ,"23908597,23908597,23908597, ",ENSP00000351276,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
FGFR2_N549D,FGFR2,N549D,missense,gain of function - predicted ,"3,427,246,728,034,880",,JAX_GOF_all
FGFR2_N549H,FGFR2,N549H,missense,gain of function ,"31371345,28166054,34272467,17525745, 17803937, 23908597",ENSP00000351276,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
FGFR2_N549K,FGFR2,N549K,missense,gain of function ,"34272467,19147536,19147536, 23908597, 17525745, 18552176",ENSP00000351276,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
FGFR2_N549S,FGFR2,N549S,missense,gain of function ,34272467,,JAX_GOF_all
FGFR2_N549T,FGFR2,N549T,missense,gain of function ,17803937,ENSP00000351276,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
FGFR2_N550H,FGFR2,N550H,missense,gain of function ,"23908597,23908597, ",P21802-3,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
FGFR2_N550K,FGFR2,N550K,missense,gain of function ,"23908597,23908597, ",P21802-3,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
FGFR2_N550S,FGFR2,N550S,missense,gain of function ,"23908597,23908597, ",P21802-3,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
FGFR2_N550T,FGFR2,N550T,missense,gain of function ,"23908597,23908597, ",P21802-3,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
FGFR2_N82K,FGFR2,N82K,missense,gain of function - predicted ,34272467,,JAX_GOF_all
FGFR2_P253L,FGFR2,P253L,missense,gain of function - predicted ,34272467,,JAX_GOF_all
FGFR2_P253R,FGFR2,P253R,missense,gain of function - predicted ,"34272467,34272467,11121055, 20175913, 23786770, 24265351",ENSP00000351276,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
FGFR2_Q212K,FGFR2,Q212K,missense,gain of function - predicted ,34272467,,JAX_GOF_all
FGFR2_R203C,FGFR2,R203C,missense,gain of function ,"34272467,23527311,23527311, 15908952",ENSP00000351276,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
FGFR2_R399Q,FGFR2,R399Q,missense,gain of function - predicted ,34272467,,JAX_GOF_all
FGFR2_R678G,FGFR2,R678G,missense,gain of function ,17803937,ENSP00000351276,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
FGFR2_S252W,FGFR2,S252W,missense,,"11121055, 18552176, 17525745, 18552176",ENSP00000351276,GOF_data_set_1049_PMID_combined
FGFR2_S354C,FGFR2,S354C,missense,gain of function ,"23913723,23913723, ",ENSP00000351276,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
FGFR2_S372C,FGFR2,S372C,missense,gain of function - predicted ,"17525745,17525745,17525745, ",ENSP00000351276,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
FGFR2_S780A,FGFR2,S780A,missense,gain of function - predicted ,"31146385,31146385, ",ENSP00000351276,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
FGFR2_S780D,FGFR2,S780D,missense,gain of function - predicted ,"31146385,31146385, ",ENSP00000351276,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
FGFR2_S780L,FGFR2,S780L,missense,gain of function - predicted ,"31146385,31146385, ",ENSP00000351276,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
FGFR2_S791T,FGFR2,S791T,missense,gain of function - predicted ,34272467,,JAX_GOF_all
FGFR2_T341P,FGFR2,T341P,missense,gain of function ,9539778,ENSP00000351276,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
FGFR2_V392A,FGFR2,V392A,missense,gain of function - predicted ,34272467,,JAX_GOF_all
FGFR2_V563L,FGFR2,V563L,missense,gain of function - predicted ,"25169980, 31109923, ",P21802-3,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
FGFR2_V564F,FGFR2,V564F,missense,gain of function - predicted ,"25169980,28034880,25169980, 28034880, ",ENSP00000351276,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
FGFR2_V564I,FGFR2,V564I,missense,gain of function ,"25169980,29540482,25169980,25169980, 23908597",ENSP00000351276,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
FGFR2_V564L,FGFR2,V564L,missense,gain of function - predicted ,"25169980,25169980, ",ENSP00000351276,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
FGFR2_V565F,FGFR2,V565F,missense,gain of function - predicted ,"25169980,25169980, 28034880, 31109923, ",P21802-3,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
FGFR2_V565I,FGFR2,V565I,missense,gain of function ,"23908597,23908597, ",P21802-3,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
FGFR2_V565L,FGFR2,V565L,missense,gain of function - predicted ,"25169980,25169980, ",P21802-3,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
FGFR2_W290C,FGFR2,W290C,missense,gain of function ,"23786770,34272467,23786770,23786770, ",ENSP00000351276,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
FGFR2_Y328N,FGFR2,Y328N,missense,gain of function - predicted ,34272467,,JAX_GOF_all
FGFR2_Y375C,FGFR2,Y375C,missense,gain of function ,"17525745,34272467,22585574,22585574, 22558232",ENSP00000351276,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
FGFR2_Y376C,FGFR2,Y376C,missense,gain of function - predicted ,"17525745,17525745,17525745, ",P21802-3,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
FGFR3_A391E,FGFR3,A391E,missense,gain of function ,"34272467,21536014, 23437153",ENSP00000414914,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
FGFR3_A391V,FGFR3,A391V,missense,gain of function - predicted ,"2,953,378,534,272,460",,JAX_GOF_all
FGFR3_C228R,FGFR3,C228R,missense,gain of function - predicted ,"27596331,27596331, ",ENSP00000414914,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
FGFR3_D641G,FGFR3,D641G,missense,gain of function ,26992226,ENSP00000414914,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
FGFR3_D641N,FGFR3,D641N,missense,gain of function - predicted ,"19,287,463,342,724,600,000,000,000,000,000",ENSP00000414914,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
FGFR3_D786N,FGFR3,D786N,missense,gain of function - predicted ,"29533785,29533785, ",ENSP00000414914,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
FGFR3_G370C,FGFR3,G370C,missense,gain of function ,"12,009,017,120,090,100,000,000,000,000,000",ENSP00000414914,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
FGFR3_G372C,FGFR3,G372C,missense,gain of function ,"16841094, 12009017, ",P22607-2,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
FGFR3_G375C,FGFR3,G375C,missense,gain of function - predicted ,22529939,ENSP00000414914,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
FGFR3_G380E,FGFR3,G380E,missense,gain of function - predicted ,34272467,,JAX_GOF_all
FGFR3_G380R,FGFR3,G380R,missense,gain of function ,"20624921,20624921, 9136983, 10611230, 12461689, 10646125, 21324899",ENSP00000414914,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
FGFR3_G382D,FGFR3,G382D,missense,gain of function - predicted ,11429702,ENSP00000414914,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
FGFR3_G382R,FGFR3,G382R,missense,gain of function ,"16841094,17172848,16841094, 17172848, ",ENSP00000414914,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
FGFR3_G384D,FGFR3,G384D,missense,gain of function - predicted ,"11429702,11429702, ",P22607-2,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
FGFR3_I538V,FGFR3,I538V,missense,gain of function - predicted ,26992226,ENSP00000414914,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
FGFR3_K650E,FGFR3,K650E,missense,gain of function ,"11055896,34272467,11055896, 19749790, 11429702",ENSP00000414914,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
FGFR3_K650M,FGFR3,K650M,missense,gain of function ,"9857065,19088846,34272467,9857065, 19088846, 11055896, 19749790, 10053006",ENSP00000414914,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
FGFR3_K650N,FGFR3,K650N,missense,gain of function ,"11055896,34272467,11055896, 19749790",ENSP00000414914,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
FGFR3_K650Q,FGFR3,K650Q,missense,gain of function ,"11055896,34272467,11055896, 19749790",ENSP00000414914,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
FGFR3_K650T,FGFR3,K650T,missense,gain of function ,"11055896,34272467,11055896, 19749790",ENSP00000414914,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
FGFR3_K651E,FGFR3,K651E,missense,,,ENSP00000339824,GOF_data_set_1049_PMID_combined
FGFR3_K652E,FGFR3,K652E,missense,gain of function - predicted ,"32370101,19749790,19749790, ",P22607-2,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
FGFR3_M528I,FGFR3,M528I,missense,gain of function ,"25777271,25777271, ",ENSP00000414914,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
FGFR3_N540K,FGFR3,N540K,missense,gain of function ,26992226,ENSP00000414914,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
FGFR3_N540S,FGFR3,N540S,missense,gain of function - predicted ,26992226,ENSP00000414914,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
FGFR3_N542K,FGFR3,N542K,missense,gain of function ,32370101,,JAX_GOF_all
FGFR3_R124W,FGFR3,R124W,missense,gain of function - predicted ,"29533785,29533785, ",ENSP00000414914,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
FGFR3_R200C,FGFR3,R200C,missense,gain of function ,"16912704,16912704, ",ENSP00000414914,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
FGFR3_R248C,FGFR3,R248C,missense,gain of function ,"19381019,24626198,24626198, 22203368, 8640234",ENSP00000414914,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
FGFR3_R669G,FGFR3,R669G,missense,gain of function ,26992226,ENSP00000414914,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
FGFR3_R669Q,FGFR3,R669Q,missense,gain of function - predicted ,"26992226,26992226, ",ENSP00000414914,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
FGFR3_S249C,FGFR3,S249C,missense,gain of function ,"19381019,17384684,31316618,34272467,17384684, 19749790, 16338952",ENSP00000414914,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
FGFR3_S371C,FGFR3,S371C,missense,gain of function ,"120,090,173,427,246,000,000,000",ENSP00000414914,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
FGFR3_V50I,FGFR3,V50I,missense,gain of function - predicted ,"29533785,29533785, ",ENSP00000414914,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
FGFR3_V555M,FGFR3,V555M,missense,gain of function ,"269,922,262,803,488,000,000,000",ENSP00000414914,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
FGFR3_V788M,FGFR3,V788M,missense,gain of function - predicted ,"29533785,29533785, ",ENSP00000414914,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
FGFR3_Y373C,FGFR3,Y373C,missense,gain of function ,"34272467,11429702, 19749790, 16338952",ENSP00000414914,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
FGFR3_Y375C,FGFR3,Y375C,missense,gain of function ,"19749790,19749790, ",P22607-2,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
FGFR3_Y647C,FGFR3,Y647C,missense,gain of function - predicted ,26992226,ENSP00000414914,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
FLT3_A680V,FLT3,A680V,missense,gain of function ,"15976757,33563661,ASH, 2015, abstract no. 87, ",ENSP00000241453,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
FLT3_A848P,FLT3,A848P,missense,gain of function - predicted ,"20520641,Blood; 2009, 114;22, Abstract #3982, ",ENSP00000241453,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
FLT3_C790S,FLT3,C790S,missense,gain of function - predicted ,31606550,,JAX_GOF_all
FLT3_D835A,FLT3,D835A,missense,gain of function ,"25837374,15256420,15256420, 11290608, 26108694",ENSP00000241453,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
FLT3_D835E,FLT3,D835E,missense,gain of function ,"25837374,15256420,15256420, 11290608, 26108694",ENSP00000241453,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
FLT3_D835G,FLT3,D835G,missense,gain of function - predicted ,"25837374,28077790,28077790, ",ENSP00000241453,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
FLT3_D835H,FLT3,D835H,missense,gain of function ,"11290608,15256420,15256420, 11290608, 26108694",ENSP00000241453,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
FLT3_D835K,FLT3,D835K,missense,gain of function - predicted ,"2,583,737,428,077,790",,JAX_GOF_all
FLT3_D835L,FLT3,D835L,missense,gain of function - predicted ,"2,583,737,428,077,790",,JAX_GOF_all
FLT3_D835N,FLT3,D835N,missense,gain of function ,"11290608,15256420,15256420, 11290608, 26108694",ENSP00000241453,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
FLT3_D835V,FLT3,D835V,missense,gain of function ,"11290608,15256420,15256420, 22504184, 29187377, 11290608, 26108694",ENSP00000241453,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
FLT3_D835Y,FLT3,D835Y,missense,gain of function ,"15256420, 11290608, 23631653, 26108694, 24255108",ENSP00000241453,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
FLT3_D839G,FLT3,D839G,missense,gain of function ,"24608088,25847190,24608088, 25847190",ENSP00000241453,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
FLT3_F594C,FLT3,F594C,missense,gain of function - predicted ,"29164965,29164965, EHA, June 2017, abstr P184, ",ENSP00000241453,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
FLT3_F594L,FLT3,F594L,missense,gain of function ,"291,649,651,641,044,000,000,000",ENSP00000241453,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
FLT3_F594Y,FLT3,F594Y,missense,gain of function - predicted ,"29164965,EHA, June 2017, abstr P184, ",ENSP00000241453,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
FLT3_I836D,FLT3,I836D,missense,gain of function ,28077790,,JAX_GOF_all
FLT3_I836L,FLT3,I836L,missense,gain of function - predicted ,28077790,,JAX_GOF_all
FLT3_I836S,FLT3,I836S,missense,gain of function - predicted ,28077790,,JAX_GOF_all
FLT3_I836T,FLT3,I836T,missense,gain of function - predicted ,28077790,,JAX_GOF_all
FLT3_I867S,FLT3,I867S,missense,gain of function ,24608088,ENSP00000241453,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
FLT3_K429E,FLT3,K429E,missense,gain of function - predicted ,"30651561,30651561, ",ENSP00000241453,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
FLT3_K663Q,FLT3,K663Q,missense,gain of function - predicted ,16990784,,JAX_GOF_all
FLT3_L576R,FLT3,L576R,missense,gain of function ,"EHA, June 2017, abstr P184, ",ENSP00000241453,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
FLT3_M665T,FLT3,M665T,missense,gain of function - predicted ,"29464843,29464843, ",ENSP00000241453,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
FLT3_N676K,FLT3,N676K,missense,gain of function ,"26891877,16150941,26891877, 16150941, 23878140",ENSP00000241453,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
FLT3_N701K,FLT3,N701K,missense,gain of function - predicted ,33780043,,JAX_GOF_all
FLT3_N841I,FLT3,N841I,missense,gain of function ,15178581,ENSP00000241453,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
FLT3_R834Q,FLT3,R834Q,missense,gain of function ,18068628,ENSP00000241453,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
FLT3_S451F,FLT3,S451F,missense,gain of function ,18068628,ENSP00000241453,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
FLT3_T227M,FLT3,T227M,missense,,,ENSP00000241453,GOF_data_set_1049_PMID_combined
FLT3_V579A,FLT3,V579A,missense,gain of function ,16410449,ENSP00000241453,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
FLT3_V592A,FLT3,V592A,missense,gain of function ,16410449,ENSP00000241453,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
FLT3_V592G,FLT3,V592G,missense,gain of function ,18068628,ENSP00000241453,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
FLT3_Y572C,FLT3,Y572C,missense,gain of function ,"18068628, 30651561",ENSP00000241453,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
FLT3_Y842C,FLT3,Y842C,missense,gain of function ,"15345593,15345593, 22504184, 29187377",ENSP00000241453,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
FLT3_Y842H,FLT3,Y842H,missense,gain of function ,"14604974,14604974, ",ENSP00000241453,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
FOXL2_C134W,FOXL2,C134W,missense,,"21188138, 28276867, ",P58012,GOF_data_set_1049_PMID_combined
GATA3_A395T,GATA3,A395T,missense,,,ENSP00000341619,GOF_data_set_1049_PMID_combined
GNA11_Q209L,GNA11,Q209L,missense,,"21083380, 24141786, 23640210, 21083380",ENSP00000078429,GOF_data_set_1049_PMID_combined
GNAQ_Q209L,GNAQ,Q209L,missense,,"1328859, 19078957, 21083380",ENSP00000286548,GOF_data_set_1049_PMID_combined
GNAQ_Q209P,GNAQ,Q209P,missense,,"23904987, 30352874, ",ENSP00000286548,GOF_data_set_1049_PMID_combined
HRAS_A146T,HRAS,A146T,missense,gain of function ,24224811,,JAX_GOF_all
HRAS_A146V,HRAS,A146V,missense,gain of function ,24224811,,JAX_GOF_all
HRAS_A59T,HRAS,A59T,missense,gain of function ,"21779495, 3004741, 1730690",P01112,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
HRAS_D33N,HRAS,D33N,missense,,"28686159, 8035810, ",P01112,GOF_data_set_1049_PMID_combined
HRAS_G12D,HRAS,G12D,missense,,"24224811, 6092966, 9219684, 21993244, 24123531",ENSP00000309845,GOF_data_set_1049_PMID_combined
HRAS_G13D,HRAS,G13D,missense,,"24224811, 21850009, 26561417, 9219684, 26037647, 21993244, 22722830, 20147967",ENSP00000309845,GOF_data_set_1049_PMID_combined
HRAS_G13R,HRAS,G13R,missense,,"22683711, 9219684, 21993244",ENSP00000309845,GOF_data_set_1049_PMID_combined
HRAS_G13S,HRAS,G13S,missense,gain of function ,8430333,,JAX_GOF_all
HRAS_G13T,HRAS,G13T,missense,gain of function ,"8430333,8430333, ",P01112,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
HRAS_G13V,HRAS,G13V,missense,,"24224811, 9219684, 21993244, 22589270, 18713003",P01112,GOF_data_set_1049_PMID_combined
HRAS_K117E,HRAS,K117E,missense,,"12569357, ",P01112,GOF_data_set_1049_PMID_combined
HRAS_K117N,HRAS,K117N,missense,,"24247240, 20570890",P01112,GOF_data_set_1049_PMID_combined
HRAS_K117R,HRAS,K117R,missense,gain of function ,,,JAX_GOF_all
HRAS_N116H,HRAS,N116H,missense,gain of function ,,,JAX_GOF_all
HRAS_N116I,HRAS,N116I,missense,,"3487832, 8227029, ",P01112,GOF_data_set_1049_PMID_combined
HRAS_Q61A,HRAS,Q61A,missense,,"3510078, ",P01112,GOF_data_set_1049_PMID_combined
HRAS_Q61C,HRAS,Q61C,missense,,"3510078, ",P01112,GOF_data_set_1049_PMID_combined
HRAS_Q61E,HRAS,Q61E,missense,,"3510078, ",P01112,GOF_data_set_1049_PMID_combined
HRAS_Q61F,HRAS,Q61F,missense,,"3510078, ",P01112,GOF_data_set_1049_PMID_combined
HRAS_Q61G,HRAS,Q61G,missense,,"3510078, ",P01112,GOF_data_set_1049_PMID_combined
HRAS_Q61I,HRAS,Q61I,missense,,"3510078, ",P01112,GOF_data_set_1049_PMID_combined
HRAS_Q61K,HRAS,Q61K,missense,,"3510078, 10574788, 18073111, 9219684, 21993244, 20194776",ENSP00000309845,GOF_data_set_1049_PMID_combined
HRAS_Q61L,HRAS,Q61L,missense,,"23487764, 3510078, 22256804, 10574788, 9219684, 21993244, 20194776",ENSP00000309845,GOF_data_set_1049_PMID_combined
HRAS_Q61M,HRAS,Q61M,missense,,"3510078, ",P01112,GOF_data_set_1049_PMID_combined
HRAS_Q61N,HRAS,Q61N,missense,,"3510078, ",P01112,GOF_data_set_1049_PMID_combined
HRAS_Q61P,HRAS,Q61P,missense,,"3510078, ",P01112,GOF_data_set_1049_PMID_combined
HRAS_Q61R,HRAS,Q61R,missense,,"3510078, 10574788, 9219684, 21993244, 20194776, 25437878",ENSP00000309845,GOF_data_set_1049_PMID_combined
HRAS_Q61T,HRAS,Q61T,missense,,"3510078, ",P01112,GOF_data_set_1049_PMID_combined
HRAS_Q61V,HRAS,Q61V,missense,,"3510078, ",P01112,GOF_data_set_1049_PMID_combined
HRAS_Q61W,HRAS,Q61W,missense,,"3510078, ",P01112,GOF_data_set_1049_PMID_combined
HRAS_Q61Y,HRAS,Q61Y,missense,,"3510078, ",P01112,GOF_data_set_1049_PMID_combined
HRAS_R1032Q,KDR,R1032Q,missense,,,ENSP00000263923,GOF_data_set_1049_PMID_combined
HRAS_T58I,HRAS,T58I,missense,,26888048,P01112,GOF_data_set_1049_PMID_combined
HRAS_V14M,HRAS,V14M,missense,gain of function - predicted ,3043178,,JAX_GOF_all
HRAS_Y40A,HRAS,Y40A,missense,gain of function - predicted ,"1,133,326,811,333,260",,JAX_GOF_all
IDH1_G97D,IDH1,G97D,missense,gain of function ,"21996744, 27824159, 22442146, ",ENSP00000260985,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
IDH1_R100A,IDH1,R100A,missense,gain of function - predicted ,"21996744,21996744, 20975740, ",ENSP00000260985,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
IDH1_R100Q,IDH1,R100Q,missense,gain of function - predicted ,"24529257, 28330869, ",ENSP00000260985,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
IDH1_R132C,IDH1,R132C,missense,gain of function ,"19228619,19935646, 26161668, 22885298, ",ENSP00000260985,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
IDH1_R132G,IDH1,R132G,missense,gain of function ,"19228619,28330869, 24529257, 19935646, ",ENSP00000260985,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
IDH1_R132H,IDH1,R132H,missense,gain of function ,"19228619,20975740, ",ENSP00000260985,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
IDH1_R132L,IDH1,R132L,missense,gain of function ,"19228619,19935646, 21326614, ",ENSP00000260985,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
IDH1_R132S,IDH1,R132S,missense,gain of function ,"19228619,19935646, 21326614, ",ENSP00000260985,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
IDH1_Y139D,IDH1,Y139D,missense,gain of function ,"21996744, 23731180",ENSP00000260985,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
IDH2_R140G,IDH2,R140G,missense,gain of function - predicted ,20847235,,JAX_GOF_all
IDH2_R140Q,IDH2,R140Q,missense,gain of function ,"20171147, 23558173, ",ENSP00000331897,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
IDH2_R140W,IDH2,R140W,missense,gain of function - predicted ,"21647154,21647154, ",ENSP00000331897,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
IDH2_R140?,IDH2,R140?,missense,unknown ,,,JAX_GOF_all
IDH2_R172G,IDH2,R172G,missense,gain of function ,"19228619,21326614, 19228619, 22309944, ",ENSP00000331897,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
IDH2_R172K,IDH2,R172K,missense,gain of function ,"19228619,20171147, 21326614, ",ENSP00000331897,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
IDH2_R172M,IDH2,R172M,missense,gain of function ,"19228619,21326614, 27577048, ",ENSP00000331897,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
IDH2_R172S,IDH2,R172S,missense,gain of function ,19228619,,JAX_GOF_all
IDH2_R172W,IDH2,R172W,missense,gain of function - predicted ,19228619,,JAX_GOF_all
IDH2_R172?,IDH2,R172?,missense,unknown ,,,JAX_GOF_all
JAK2_C618R,JAK2,C618R,missense,gain of function ,22960131,ENSP00000371067,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
JAK2_D873N,JAK2,D873N,missense,gain of function ,"24918548,19470474,24918548, 19470474, ",ENSP00000371067,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
JAK2_E846D,JAK2,E846D,missense,gain of function ,"29685781,27389715,27389715, ",ENSP00000371067,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
JAK2_E864K,JAK2,E864K,missense,gain of function - predicted ,"22916261,22916261, 22271575, ",ENSP00000371067,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
JAK2_F556A,JAK2,F556A,missense,gain of function ,"29842959,29842959, ",ENSP00000371067,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
JAK2_F556D,JAK2,F556D,missense,gain of function ,"29842959,29842959, ",ENSP00000371067,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
JAK2_F556G,JAK2,F556G,missense,gain of function ,"29842959,29842959, ",ENSP00000371067,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
JAK2_F556K,JAK2,F556K,missense,gain of function ,"29842959,29842959, ",ENSP00000371067,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
JAK2_F556P,JAK2,F556P,missense,gain of function ,"29842959,29842959, ",ENSP00000371067,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
JAK2_F556V,JAK2,F556V,missense,gain of function ,"29842959,26423830, 29842959, ",ENSP00000371067,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
JAK2_F694L,JAK2,F694L,missense,gain of function ,"19638629,19638629, ",ENSP00000371067,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
JAK2_F694S,JAK2,F694S,missense,gain of function ,"19638629,19638629, ",ENSP00000371067,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
JAK2_G417P,JAK2,G417P,missense,gain of function - predicted ,"26419724,26419724,26419724, ",ENSP00000371067,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
JAK2_G935R,JAK2,G935R,missense,gain of function - predicted ,"22916261,22916261, 22271575, ",ENSP00000371067,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
JAK2_H110R,JAK2,H110R,missense,gain of function - predicted ,"26419724,26419724,26419724, ",ENSP00000371067,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
JAK2_H538L,JAK2,H538L,missense,gain of function ,"19638629,19638629, ",ENSP00000371067,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
JAK2_H574R,JAK2,H574R,missense,gain of function ,"26216197,26216197, ",ENSP00000371067,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
JAK2_I682D,JAK2,I682D,missense,gain of function - predicted ,"25940527,25940527, ",ENSP00000371067,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
JAK2_I682F,JAK2,I682F,missense,gain of function - predicted ,"25940527,25940527, ",ENSP00000371067,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
JAK2_I682G,JAK2,I682G,missense,gain of function - predicted ,"25940527,25940527, ",ENSP00000371067,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
JAK2_I682S,JAK2,I682S,missense,gain of function - predicted ,"25940527,25940527, ",ENSP00000371067,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
JAK2_K539I,JAK2,K539I,missense,gain of function ,"19638629,19638629, ",ENSP00000371067,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
JAK2_K539L,JAK2,K539L,missense,gain of function ,"17267906, 21362419, 30092288, 20585391",ENSP00000371067,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
JAK2_K607E,JAK2,K607E,missense,gain of function ,"19638629,19638629, ",ENSP00000371067,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
JAK2_K607N,JAK2,K607N,missense,gain of function ,"30521925,30521925, ",ENSP00000371067,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
JAK2_K883E,JAK2,K883E,missense,gain of function ,"24918548,27029346,24918548, ",ENSP00000371067,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
JAK2_L393V,JAK2,L393V,missense,gain of function ,"29685781,27647865,27647865, ",ENSP00000371067,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
JAK2_L611S,JAK2,L611S,missense,gain of function ,"19638629,19638629, ",ENSP00000371067,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
JAK2_M483R,JAK2,M483R,missense,gain of function - predicted ,"26419724,26419724,26419724, ",ENSP00000371067,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
JAK2_M929I,JAK2,M929I,missense,gain of function - predicted ,"22916261,22916261, 23823659, 21926964, ",ENSP00000371067,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
JAK2_N622I,JAK2,N622I,missense,gain of function ,"19638629,19638629, ",ENSP00000371067,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
JAK2_N909K,JAK2,N909K,missense,gain of function - predicted ,"22916261,22916261, ",ENSP00000371067,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
JAK2_N99S,JAK2,N99S,missense,gain of function - predicted ,"26419724,26419724,26419724, ",ENSP00000371067,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
JAK2_P58A,JAK2,P58A,missense,gain of function - predicted ,"26419724,26419724,26419724, ",ENSP00000371067,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
JAK2_P933R,JAK2,P933R,missense,gain of function ,"24918548,19470474,24918548, 19470474, ",ENSP00000371067,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
JAK2_R1063H,JAK2,R1063H,missense,gain of function ,"27389715,27389715, ",ENSP00000371067,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
JAK2_R277K,JAK2,R277K,missense,gain of function - predicted ,"2,641,972,426,419,720",,JAX_GOF_all
JAK2_R564Q,JAK2,R564Q,missense,gain of function ,"24381227,24381227, ",ENSP00000371067,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
JAK2_R683E,JAK2,R683E,missense,gain of function ,"24918548,23748007,24918548, 23748007, ",ENSP00000371067,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
JAK2_R683G,JAK2,R683G,missense,gain of function ,"26216197, 23748007, 18805579, 20585391, 23452118",ENSP00000371067,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
JAK2_R683S,JAK2,R683S,missense,gain of function ,"18805579,23748007,18805579, 23748007, 19638629, 23452118",ENSP00000371067,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
JAK2_R683T,JAK2,R683T,missense,gain of function - predicted ,"26419724,26419724, ",ENSP00000371067,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
JAK2_R867Q,JAK2,R867Q,missense,gain of function ,"24398328,24398328, ",ENSP00000371067,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
JAK2_R938Q,JAK2,R938Q,missense,gain of function ,"29025600,24398328,29025600,29025600, 24398328, ",ENSP00000371067,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
JAK2_R947E,JAK2,R947E,missense,gain of function ,"24918548,27029346,24918548,24918548, 27029346, ",ENSP00000371067,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
JAK2_R975G,JAK2,R975G,missense,gain of function - predicted ,"22916261,22916261, ",ENSP00000371067,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
JAK2_S523L,JAK2,S523L,missense,gain of function ,"29685781,32956452,32956452, ",ENSP00000371067,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
JAK2_S755R,JAK2,S755R,missense,gain of function - predicted ,"24398328,24398328, ",ENSP00000371067,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
JAK2_T108A,JAK2,T108A,missense,gain of function ,"27647865,27647865, ",ENSP00000371067,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
JAK2_T875N,JAK2,T875N,missense,gain of function ,"19543316,19543316, 21362419, 31299252, 20585391, 16804112",ENSP00000371067,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
JAK2_V366G,JAK2,V366G,missense,gain of function - predicted ,"26419724,26419724,26419724, ",ENSP00000371067,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
JAK2_V617F,JAK2,V617F,missense,gain of function ,"15858187, 12351625, 15793561, 21533163, 19543316",ENSP00000371067,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
JAK2_V617I,JAK2,V617I,missense,gain of function ,"19638629,26458983,19638629, 26458983, ",ENSP00000371067,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
JAK2_V625F,JAK2,V625F,missense,gain of function ,"26423830,26423830, ",ENSP00000371067,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
JAK2_V881A,JAK2,V881A,missense,gain of function - predicted ,"22916261,22916261, ",ENSP00000371067,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
JAK2_Y317H,JAK2,Y317H,missense,gain of function ,"28473624,28473624, ",ENSP00000371067,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
JAK2_Y44C,JAK2,Y44C,missense,gain of function - predicted ,"26419724,26419724,26419724, ",ENSP00000371067,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
JAK2_Y570R,JAK2,Y570R,missense,gain of function - predicted ,"24918548,24918548, ",ENSP00000371067,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
JAK2_Y613E,JAK2,Y613E,missense,gain of function ,"18160720,18160720, ",ENSP00000371067,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
JAK2_Y931C,JAK2,Y931C,missense,gain of function ,"21393331, 26419724, ",ENSP00000371067,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
JAK3_A572T,JAK3,A572T,missense,gain of function ,"25193870,25193870, ",ENSP00000391676,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
JAK3_A572V,JAK3,A572V,missense,gain of function ,"29046866,22705984,29046866, ",ENSP00000391676,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
JAK3_A573V,JAK3,A573V,missense,gain of function ,"25193870,18755984, 29046866, 25193870, ",ENSP00000391676,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
JAK3_E183G,JAK3,E183G,missense,gain of function ,"21821710,21821710, ",ENSP00000391676,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
JAK3_E958K,JAK3,E958K,missense,gain of function ,"26446793,26206799,26446793, 26206799, ",ENSP00000391676,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
JAK3_F666L,JAK3,F666L,missense,gain of function - predicted ,"25855603,25855603, ",ENSP00000391676,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
JAK3_G589D,JAK3,G589D,missense,gain of function - predicted ,"28284718,28284718, ",ENSP00000391676,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
JAK3_G62S,JAK3,G62S,missense,gain of function ,"29046866,20400977,29046866, 20400977, ",ENSP00000391676,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
JAK3_H583Y,JAK3,H583Y,missense,gain of function - predicted ,"28284718,28284718, ",ENSP00000391676,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
JAK3_I87T,JAK3,I87T,missense,gain of function ,"29046866,18397343,29046866, 18397343, ",ENSP00000391676,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
JAK3_L156P,JAK3,L156P,missense,gain of function ,"21821710,21821710, ",ENSP00000391676,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
JAK3_L857H,JAK3,L857H,missense,,"26446793, ",ENSP00000391676,GOF_data_set_1049_PMID_combined
JAK3_L857P,JAK3,L857P,missense,gain of function ,"26446793,35411095,26446793, ",ENSP00000391676,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
JAK3_L857Q,JAK3,L857Q,missense,gain of function ,"25193870, 28852199, ",ENSP00000391676,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
JAK3_L875H,JAK3,L875H,missense,gain of function ,"29187379,26446793,31976485,29187379, 31976485, ",ENSP00000391676,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
JAK3_M511I,JAK3,M511I,missense,gain of function ,"25193870, 28852199, 20400977, 29046866, ",ENSP00000391676,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
JAK3_M576L,JAK3,M576L,missense,gain of function - predicted ,"29046866,29046866, ",ENSP00000391676,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
JAK3_M592F,JAK3,M592F,missense,gain of function - predicted ,"16239216,31892268,16239216, 31892268, ",ENSP00000391676,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
JAK3_P132T,JAK3,P132T,missense,gain of function ,"29046866,16843266,29046866, 16843266, ",ENSP00000391676,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
JAK3_P906S,JAK3,P906S,missense,gain of function - predicted ,"26446793,26446793, ",ENSP00000391676,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
JAK3_Q501H,JAK3,Q501H,missense,gain of function ,"18397343, 20400977, ",ENSP00000391676,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
JAK3_Q507P,JAK3,Q507P,missense,gain of function ,"24825865,24825865, ",ENSP00000391676,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
JAK3_R172Q,JAK3,R172Q,missense,gain of function ,"21821710,21821710, ",ENSP00000391676,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
JAK3_R549Q,JAK3,R549Q,missense,gain of function - predicted ,35411095,,JAX_GOF_all
JAK3_R657Q,JAK3,R657Q,missense,gain of function ,"18397343, 20400977, ",ENSP00000391676,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
JAK3_R657W,JAK3,R657W,missense,gain of function - predicted ,"25193870,25193870, ",ENSP00000391676,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
JAK3_R887C,JAK3,R887C,missense,gain of function - predicted ,35411095,,JAX_GOF_all
JAK3_T1022I,JAK3,T1022I,missense,gain of function ,"32639993,32639993, ",ENSP00000391676,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
JAK3_T848A,JAK3,T848A,missense,gain of function - predicted ,"26446793,26446793, ",ENSP00000391676,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
JAK3_V674A,JAK3,V674A,missense,gain of function ,"16790275, 20400977, ",ENSP00000391676,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
JAK3_V678L,JAK3,V678L,missense,gain of function ,"26206799,26206799, ",ENSP00000391676,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
JAK3_V678M,JAK3,V678M,missense,gain of function ,"25193870,25193870, ",ENSP00000391676,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
JAK3_V722I,JAK3,V722I,missense,gain of function ,"23689514, 16843266, ",ENSP00000391676,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
KDR_A1065T,KDR,A1065T,missense,,19723655,ENSP00000263923,GOF_data_set_1049_PMID_combined
KDR_D717V,KDR,D717V,missense,,"19723655, 29588308",ENSP00000263923,GOF_data_set_1049_PMID_combined
KDR_G539R,KDR,G539R,missense,,"30761385, ",ENSP00000263923,GOF_data_set_1049_PMID_combined
KDR_G800D,KDR,G800D,missense,,"29588308, ",ENSP00000263923,GOF_data_set_1049_PMID_combined
KDR_G800R,KDR,G800R,missense,,"29588308, ",ENSP00000263923,GOF_data_set_1049_PMID_combined
KDR_G843D,KDR,G843D,missense,,"29588308, ",ENSP00000263923,GOF_data_set_1049_PMID_combined
KDR_Q472H,KDR,Q472H,missense,,"21712447, 26631613, 24793135, 24599305",ENSP00000263923,GOF_data_set_1049_PMID_combined
KDR_R1022Q,KDR,R1022Q,missense,,"29588308, ",ENSP00000263923,GOF_data_set_1049_PMID_combined
KDR_S925F,KDR,S925F,missense,,"29588308, ",ENSP00000263923,GOF_data_set_1049_PMID_combined
KIT_A829P,KIT,A829P,missense,gain of function ,"23582185,23582185, 18623623, 18980976, 21642685, 25239608, 18955458",ENSP00000288135,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
KIT_C443Y,KIT,C443Y,missense,gain of function - predicted ,19865100,ENSP00000288135,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
KIT_D572A,KIT,D572A,missense,gain of function - predicted ,"16226710,19865100,16226710, 19865100",ENSP00000288135,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
KIT_D572G,KIT,D572G,missense,gain of function ,"29464843,29464843, ",ENSP00000288135,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
KIT_D816F,KIT,D816F,missense,gain of function ,"17555444,16397263,17555444, 9990072, 16397263",ENSP00000288135,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
KIT_D816G,KIT,D816G,missense,gain of function ,"27068398,27068398, 25239608",ENSP00000288135,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
KIT_D816H,KIT,D816H,missense,gain of function ,"19164557,25239608,10362788, 11494148, 18623623, 16956837, 18980976, 25304235, 25239608, 18955458, 16954519, 16397263",ENSP00000288135,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
KIT_D816I,KIT,D816I,missense,gain of function ,"17555444,17555444, 19865100, 20484085, ",ENSP00000288135,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
KIT_D816N,KIT,D816N,missense,gain of function ,"11378569,11378569, 11369651",ENSP00000288135,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
KIT_D816V,KIT,D816V,missense,gain of function ,"19865100,21148330,19865100, 18390729, 21148330, 22301675, 19164557, 15972446, 19193436, 7479840, 26002753, 16434489, 16397263, 15725473, 15790786, 17545544, 16254134, 14645423, 16779792, 23659595, 23416972",ENSP00000288135,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
KIT_D816Y,KIT,D816Y,missense,gain of function ,"21640708,16397263,21640708, 16397263, 15790786, 15167915, 15725473",ENSP00000288135,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
KIT_D820A,KIT,D820A,missense,gain of function - predicted ,"27440273,23840364, 25239608, 18955458, 16954519",ENSP00000288135,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
KIT_D820Y,KIT,D820Y,missense,gain of function ,"18488160,19035443, 11984533, ",ENSP00000288135,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
KIT_F522C,KIT,F522C,missense,gain of function - predicted ,"150,707,061,507,070,000,000,000",ENSP00000288135,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
KIT_H697Y,KIT,H697Y,missense,gain of function - predicted ,19861435,ENSP00000288135,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
KIT_K509I,KIT,K509I,missense,gain of function ,19865100,ENSP00000288135,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
KIT_K642E,KIT,K642E,missense,gain of function ,"15990278,11073817,15990278, 19802003, 24855380, 23940219, 11526490, 25695690, 25304235, 25239608, 14645423, 16954519",ENSP00000288135,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
KIT_L576P,KIT,L576P,missense,gain of function ,"17372901,17372901,17372901, 22357254, 26264378, 18980976, 25605837, 15930355, 19671763, 22068222, 23775962, 21642685, 25695690, 18955458, 16954519",ENSP00000288135,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
KIT_N505I,KIT,N505I,missense,gain of function ,24317392,ENSP00000288135,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
KIT_N655K,KIT,N655K,missense,gain of function - predicted ,"17555444,17489795,17555444, 17489795",ENSP00000288135,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
KIT_N822I,KIT,N822I,missense,gain of function ,"17555444,21689725,17555444, 21689725",ENSP00000288135,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
KIT_N822K,KIT,N822K,missense,gain of function ,"24205792,31484543,18488160,24205792, 15790786, 23840364, 21482694, 24490049, 21642685, 25695690, 22614970, 16954519, 26316776, 17699867",ENSP00000288135,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
KIT_N822Y,KIT,N822Y,missense,gain of function - predicted ,"30094412,30094412, 21689725, 18724244",ENSP00000288135,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
KIT_R634W,KIT,R634W,missense,gain of function ,15790786,ENSP00000288135,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
KIT_S476I,KIT,S476I,missense,gain of function ,"19865100, 30094412",ENSP00000288135,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
KIT_S628N,KIT,S628N,missense,gain of function ,"25317746,25317746, ",ENSP00000288135,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
KIT_T670I,KIT,T670I,missense,gain of function ,"17699867, 15236194, 16551858, 17545544, 23840364, 16954519",ENSP00000288135,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
KIT_V530I,KIT,V530I,missense,gain of function ,"16081693,16081693,16081693, 20339585",ENSP00000288135,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
KIT_V559A,KIT,V559A,missense,gain of function ,"15837988,15837988, 19047099, 15897563, 19812602, 16908931, 9438854",ENSP00000288135,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
KIT_V559D,KIT,V559D,missense,gain of function ,"9438854,9438854, 21689725, 15790786, 17372901, 18980976, 18955458, 16954519, 25605837, 15930355, 17699867",ENSP00000288135,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
KIT_V559G,KIT,V559G,missense,,"15897563, 23348204, 12569358",ENSP00000288135,GOF_data_set_1049_PMID_combined
KIT_V559I,KIT,V559I,missense,gain of function ,"172,599,981,725,999,000,000,000",ENSP00000288135,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
KIT_V560A,KIT,V560A,missense,gain of function - predicted ,"16226710,10224103,16226710, 10224103, ",ENSP00000288135,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
KIT_V560D,KIT,V560D,missense,gain of function ,"19164557,27440273,16954519, 20633291, 23775962, 16551858, 23840364, 25239608, 18955458, 25605837, 9438854",ENSP00000288135,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
KIT_V560G,KIT,V560G,missense,gain of function ,"9438854,31484543,7691885, 23777495, 15790786, 16434489, 14645423, 16954519, 16397263",ENSP00000288135,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
KIT_W557G,KIT,W557G,missense,gain of function - predicted ,"16226710,23567324,23567324, 10224103, 25079768, 15342366",ENSP00000288135,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
KIT_W557R,KIT,W557R,missense,,"15869870, 14977822, 10224103, 19018266, 22357254, 21953054, 25079768, 21325067, 18980976, 21906875, 21642685, 20859122, 12888812",ENSP00000288135,GOF_data_set_1049_PMID_combined
KIT_Y578C,KIT,Y578C,missense,gain of function - predicted ,"16226710,23567324,16226710, 23567324",ENSP00000288135,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
KIT_Y823D,KIT,Y823D,missense,gain of function ,"14695343, 20633291, 22069175, 16551858, 18623623, 22301675, 18980976, 22089421, 18955458, 16954519, 15930355",ENSP00000288135,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
KMT2A_R3841W,KMT2A,R3841W,missense,gain of function - predicted ,"28182322,28182322, ",ENSP00000374157,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
KRAS_A146P,KRAS,A146P,missense,,,ENSP00000256078,GOF_data_set_1049_PMID_combined
KRAS_A146T,KRAS,A146T,missense,,"19075190, 20570890, 20147967, 2403644",ENSP00000308495,GOF_data_set_1049_PMID_combined
KRAS_A146V,KRAS,A146V,missense,,"3043178, 26841430",ENSP00000256078,GOF_data_set_1049_PMID_combined
KRAS_A59T,KRAS,A59T,missense,,,ENSP00000256078,GOF_data_set_1049_PMID_combined
KRAS_G12A,KRAS,G12A,missense,,"26662311, 26037647, 25013473, 23182985",ENSP00000256078,GOF_data_set_1049_PMID_combined
KRAS_G12C,KRAS,G12C,missense,,"25705018, 24256730, 16051643, 26841430",ENSP00000256078,GOF_data_set_1049_PMID_combined
KRAS_G12D,KRAS,G12D,missense,,"15517309, 17349581, 24300897, 19296721, 26037647, 11751631, 15093544, 20570890, 20147967",ENSP00000308495,GOF_data_set_1049_PMID_combined
KRAS_G12R,KRAS,G12R,missense,,"24893629, 26037647, 21831957, 22722830",ENSP00000256078,GOF_data_set_1049_PMID_combined
KRAS_G12S,KRAS,G12S,missense,,"26184075, 25284075",ENSP00000256078,GOF_data_set_1049_PMID_combined
KRAS_G12V,KRAS,G12V,missense,,"20516123, 20949621, 25359494, 20570890, 12957286, 20147967",ENSP00000256078,GOF_data_set_1049_PMID_combined
KRAS_G13C,KRAS,G13C,missense,,"25705018, 21079152",ENSP00000256078,GOF_data_set_1049_PMID_combined
KRAS_G13D,KRAS,G13D,missense,,"17133351, 20978259, 26037647, 22722830, 20147967",ENSP00000308495,GOF_data_set_1049_PMID_combined
KRAS_K117N,KRAS,K117N,missense,,"20570890, 20147967",ENSP00000308495,GOF_data_set_1049_PMID_combined
KRAS_Q61H,KRAS,Q61H,missense,,"20147967, 25705018, 21993244, 24651010",ENSP00000308495,GOF_data_set_1049_PMID_combined
KRAS_Q61K,KRAS,Q61K,missense,,,ENSP00000308495,GOF_data_set_1049_PMID_combined
KRAS_Q61L,KRAS,Q61L,missense,,"21993244, 25363767, 24651010, 26854029, 25437878",ENSP00000308495,GOF_data_set_1049_PMID_combined
KRAS_Q61R,KRAS,Q61R,missense,,"21993244, 25363767, 24651010, 25437878",ENSP00000308495,GOF_data_set_1049_PMID_combined
MAP2K1_C121S,MAP2K1,C121S,missense,gain of function ,"25899310,25899310, 24448821, 25351745, 21383288",ENSP00000302486,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
MAP2K1_D65N,MAP2K1,D65N,missense,gain of function - predicted ,"26566875,26566875, ",ENSP00000302486,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
MAP2K1_D67N,MAP2K1,D67N,missense,gain of function ,"25351745,28986383,25049390, 29483135, 25351745, 18060073",ENSP00000302486,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
MAP2K1_D67Y,MAP2K1,D67Y,missense,gain of function - predicted ,36442478,,JAX_GOF_all
MAP2K1_E120Q,MAP2K1,E120Q,missense,gain of function - predicted ,"26566875,26566875, ",ENSP00000302486,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
MAP2K1_E144K,MAP2K1,E144K,missense,gain of function ,26566875,ENSP00000302486,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
MAP2K1_E203K,MAP2K1,E203K,missense,gain of function ,"22197931,28986383,29753091, 25351745, 22197931",ENSP00000302486,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
MAP2K1_E203V,MAP2K1,E203V,missense,gain of function - predicted ,"32641410,32641410, ",ENSP00000302486,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
MAP2K1_E27K,MAP2K1,E27K,missense,,,ENSP00000302486,GOF_data_set_1049_PMID_combined
MAP2K1_F129L,MAP2K1,F129L,missense,gain of function ,"21705440,29753091,21705440, 29753091, 19915144, 26399658",ENSP00000302486,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
MAP2K1_F53C,MAP2K1,F53C,missense,gain of function ,"24241536,30341394,36442478,24241536, 30341394, 17981815",ENSP00000302486,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
MAP2K1_F53I,MAP2K1,F53I,missense,gain of function ,"24241536,36442478,32641410,36442478,24241536, 32641410, ",ENSP00000302486,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
MAP2K1_F53L,MAP2K1,F53L,missense,gain of function ,"24241536,25351745,36442478,24241536, 25164765, 29483135, 29753091, 25351745, 21383288, 22197931, 26582713, 26324360",ENSP00000302486,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
MAP2K1_F53S,MAP2K1,F53S,missense,gain of function ,"24241536,29753091,24241536, 29753091, 16439621, 12370306, 17981815",ENSP00000302486,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
MAP2K1_F53V,MAP2K1,F53V,missense,gain of function ,"24241536,32641410,36442478,24241536, 32641410, ",ENSP00000302486,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
MAP2K1_F53Y,MAP2K1,F53Y,missense,gain of function ,"24241536,36442478,30776432,36442478,24241536, 30776432, ",ENSP00000302486,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
MAP2K1_G128D,MAP2K1,G128D,missense,gain of function ,"28115009, 25899310, 19915144",ENSP00000302486,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
MAP2K1_G276W,MAP2K1,G276W,missense,gain of function - predicted ,36442478,,JAX_GOF_all
MAP2K1_H119Q,MAP2K1,H119Q,missense,gain of function - predicted ,"32641410,32641410, ",ENSP00000302486,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
MAP2K1_H119Y,MAP2K1,H119Y,missense,gain of function - predicted ,"32641410,32641410, ",ENSP00000302486,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
MAP2K1_I103N,MAP2K1,I103N,missense,gain of function ,"12370306,29753091,36442478,29753091, 12370306, 19915144",ENSP00000302486,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
MAP2K1_I111A,MAP2K1,I111A,missense,gain of function - predicted ,12370306,ENSP00000302486,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
MAP2K1_I111D,MAP2K1,I111D,missense,gain of function - predicted ,12370306,,JAX_GOF_all
MAP2K1_I111N,MAP2K1,I111N,missense,gain of function - predicted ,"19915144,12370306, ",ENSP00000302486,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
MAP2K1_I111P,MAP2K1,I111P,missense,gain of function - predicted ,12370306,ENSP00000302486,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
MAP2K1_I111R,MAP2K1,I111R,missense,gain of function - predicted ,12370306,ENSP00000302486,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
MAP2K1_I111S,MAP2K1,I111S,missense,gain of function ,"29753091,29753091, ",ENSP00000302486,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
MAP2K1_I204T,MAP2K1,I204T,missense,gain of function ,22327936,ENSP00000302486,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
MAP2K1_I99G,MAP2K1,I99G,missense,gain of function - predicted ,"31925410,31925410, ",ENSP00000302486,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
MAP2K1_I99T,MAP2K1,I99T,missense,gain of function - predicted ,"31925410,31925410, ",ENSP00000302486,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
MAP2K1_K57C,MAP2K1,K57C,missense,gain of function - predicted ,"24241536,24463458,24241536, 24463458, ",ENSP00000302486,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
MAP2K1_K57E,MAP2K1,K57E,missense,gain of function ,"24241536,36442478,24241536, 24463458, 25370473, 26566875",ENSP00000302486,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
MAP2K1_K57M,MAP2K1,K57M,missense,gain of function ,"24241536,31972311,24241536, 31972311, ",ENSP00000302486,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
MAP2K1_K57N,MAP2K1,K57N,missense,gain of function ,"24241536,29753091,36442478,29753091, 18632602, 29533785, 25351745, 26566875",ENSP00000302486,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
MAP2K1_K57T,MAP2K1,K57T,missense,gain of function ,"24241536,36442478,30341394, 32641410, 26644315, 28819429",ENSP00000302486,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
MAP2K1_L115A,MAP2K1,L115A,missense,gain of function - predicted ,"12370306,12370306,12370306, ",ENSP00000302486,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
MAP2K1_L115P,MAP2K1,L115P,missense,gain of function ,"29753091,12370306,29753091, 12370306, 19915144, 26399658",ENSP00000302486,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
MAP2K1_L177M,MAP2K1,L177M,missense,gain of function ,"29483135,32641410,29483135, 32641410, ",ENSP00000302486,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
MAP2K1_L177V,MAP2K1,L177V,missense,gain of function - predicted ,"29483135,32641410, 29483135, ",ENSP00000302486,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
MAP2K1_L37P,MAP2K1,L37P,missense,gain of function ,"265,668,752,656,687,000,000,000",ENSP00000302486,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
MAP2K1_L42F,MAP2K1,L42F,missense,gain of function - predicted ,"24,241,536,297,530,900,000,000,000,000,000",,JAX_GOF_all
MAP2K1_L54P,MAP2K1,L54P,missense,gain of function - predicted ,36442478,,JAX_GOF_all
MAP2K1_N122D,MAP2K1,N122D,missense,gain of function - predicted ,"32641410,32641410, ",ENSP00000302486,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
MAP2K1_P124L,MAP2K1,P124L,missense,gain of function ,"29483135,19915144,19915144, 29483135, 25370473",ENSP00000302486,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
MAP2K1_P124R,MAP2K1,P124R,missense,gain of function - predicted ,"32641410,32641410, ",ENSP00000302486,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
MAP2K1_P124S,MAP2K1,P124S,missense,,"24265153, 22197931, 25370473",ENSP00000302486,GOF_data_set_1049_PMID_combined
MAP2K1_P306H,MAP2K1,P306H,missense,gain of function ,22327936,ENSP00000302486,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
MAP2K1_P387S,MAP2K1,P387S,missense,gain of function ,"22389471,22389471, ",ENSP00000302486,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
MAP2K1_Q56P,MAP2K1,Q56P,missense,gain of function ,"36442478,29753091,22327936, 7651428, 19915144, 25351745, 26566875",ENSP00000302486,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
MAP2K1_R47Q,MAP2K1,R47Q,missense,gain of function ,"24241536,22327936,24241536, 22327936, 24982505",ENSP00000302486,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
MAP2K1_R49L,MAP2K1,R49L,missense,gain of function ,"24241536,22327936,24241536, 22327936",ENSP00000302486,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
MAP2K1_S123T,MAP2K1,S123T,missense,gain of function ,26566875,ENSP00000302486,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
MAP2K1_S218D,MAP2K1,S218D,missense,gain of function ,"7936666,7936666, 17981815, 16439621",ENSP00000302486,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
MAP2K1_S241Y,MAP2K1,S241Y,missense,gain of function - predicted ,36442478,,JAX_GOF_all
MAP2K1_T28I,MAP2K1,T28I,missense,gain of function - predicted ,"265,668,752,656,687,000,000,000",ENSP00000302486,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
MAP2K1_V211D,MAP2K1,V211D,missense,gain of function ,"29753091, 19915144, 31227518, ",ENSP00000302486,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
MAP2K1_V60E,MAP2K1,V60E,missense,gain of function ,"28263969,36442478,28263969,28263969, 24265153",ENSP00000302486,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
MAP2K1_V60M,MAP2K1,V60M,missense,gain of function ,26566875,ENSP00000302486,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
MAP2K1_Y134C,MAP2K1,Y134C,missense,gain of function - predicted ,"36442478,32641410,32641410, ",ENSP00000302486,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
MET_M1268T,MET,M1268T,missense,,"10871851, ",P08581-2,GOF_data_set_1049_PMID_combined
MET_R988C,MET,R988C,missense,,"14559814, 20670955,22973954, ",P08581-2,GOF_data_set_1049_PMID_combined
MET_V1110I,MET,V1110I,missense,,"19783361, ",P08581-2,GOF_data_set_1049_PMID_combined
MET_Y1248C,MET,Y1248C,missense,,"9826708, 31279006, ",P08581-2,GOF_data_set_1049_PMID_combined
MET_Y1253D,MET,Y1253D,missense,,"16245927, 19459657, ",P08581-2,GOF_data_set_1049_PMID_combined
MPL_E230G,MPL,E230G,missense,,"26423830, ",ENSP00000361548,GOF_data_set_1049_PMID_combined
MPL_L498W,MPL,L498W,missense,,"31978223, 31697803, ",ENSP00000361548,GOF_data_set_1049_PMID_combined
MPL_L502C,MPL,L502C,missense,,"31697803, ",ENSP00000361548,GOF_data_set_1049_PMID_combined
MPL_L502S,MPL,L502S,missense,,"31697803, ",ENSP00000361548,GOF_data_set_1049_PMID_combined
MPL_L508Q,MPL,L508Q,missense,,"31697803, ",ENSP00000361548,GOF_data_set_1049_PMID_combined
MPL_P106L,MPL,P106L,missense,,"25538044, 23351976",ENSP00000361548,GOF_data_set_1049_PMID_combined
MPL_R321W,MPL,R321W,missense,,"26423830, ",ENSP00000361548,GOF_data_set_1049_PMID_combined
MPL_S204F,MPL,S204F,missense,,"26423830, ",ENSP00000361548,GOF_data_set_1049_PMID_combined
MPL_S204P,MPL,S204P,missense,,"26423830, 26450985, ",ENSP00000361548,GOF_data_set_1049_PMID_combined
MPL_S493C,MPL,S493C,missense,,"31697803, ",ENSP00000361548,GOF_data_set_1049_PMID_combined
MPL_S493L,MPL,S493L,missense,,"31697803, ",ENSP00000361548,GOF_data_set_1049_PMID_combined
MPL_S505N,MPL,S505N,missense,,"14764528, 26437785, 8695859",ENSP00000361548,GOF_data_set_1049_PMID_combined
MPL_T119I,MPL,T119I,missense,,"26423830, ",ENSP00000361548,GOF_data_set_1049_PMID_combined
MPL_T487A,MPL,T487A,missense,,"18755984, ",ENSP00000361548,GOF_data_set_1049_PMID_combined
MPL_V285E,MPL,V285E,missense,,"26423830, ",ENSP00000361548,GOF_data_set_1049_PMID_combined
MPL_V501A,MPL,V501A,missense,,"30635630, 31697803, ",ENSP00000361548,GOF_data_set_1049_PMID_combined
MPL_V501S,MPL,V501S,missense,,"31697803, ",ENSP00000361548,GOF_data_set_1049_PMID_combined
MPL_W515A,MPL,W515A,missense,,"26437785, 19996410, ",ENSP00000361548,GOF_data_set_1049_PMID_combined
MPL_W515D,MPL,W515D,missense,,"26437785, ",ENSP00000361548,GOF_data_set_1049_PMID_combined
MPL_W515E,MPL,W515E,missense,,"26437785, ",ENSP00000361548,GOF_data_set_1049_PMID_combined
MPL_W515F,MPL,W515F,missense,,"26437785, 23359689, ",ENSP00000361548,GOF_data_set_1049_PMID_combined
MPL_W515G,MPL,W515G,missense,,"26437785, ",ENSP00000361548,GOF_data_set_1049_PMID_combined
MPL_W515H,MPL,W515H,missense,,"26437785, ",ENSP00000361548,GOF_data_set_1049_PMID_combined
MPL_W515I,MPL,W515I,missense,,"26437785, ",ENSP00000361548,GOF_data_set_1049_PMID_combined
MPL_W515K,MPL,W515K,missense,,"26450985, 18528423, 26437785, 16868251, 17709604",ENSP00000361548,GOF_data_set_1049_PMID_combined
MPL_W515L,MPL,W515L,missense,,"16834459, 18528423",ENSP00000361548,GOF_data_set_1049_PMID_combined
MPL_W515M,MPL,W515M,missense,,"26437785, ",ENSP00000361548,GOF_data_set_1049_PMID_combined
MPL_W515N,MPL,W515N,missense,,"26437785, ",ENSP00000361548,GOF_data_set_1049_PMID_combined
MPL_W515Q,MPL,W515Q,missense,,"26437785, ",ENSP00000361548,GOF_data_set_1049_PMID_combined
MPL_W515R,MPL,W515R,missense,,"26437785, ",ENSP00000361548,GOF_data_set_1049_PMID_combined
MPL_W515S,MPL,W515S,missense,,"26437785, ",ENSP00000361548,GOF_data_set_1049_PMID_combined
MPL_W515T,MPL,W515T,missense,,"26437785, ",ENSP00000361548,GOF_data_set_1049_PMID_combined
MPL_W515V,MPL,W515V,missense,,"26437785, ",ENSP00000361548,GOF_data_set_1049_PMID_combined
MPL_W515Y,MPL,W515Y,missense,,"26437785, 23359689, ",ENSP00000361548,GOF_data_set_1049_PMID_combined
MPL_Y591D,MPL,Y591D,missense,,"26423830, ",ENSP00000361548,GOF_data_set_1049_PMID_combined
MPL_Y591F,MPL,Y591F,missense,,"24607955, ",ENSP00000361548,GOF_data_set_1049_PMID_combined
MPL_Y591N,MPL,Y591N,missense,,"26450985, ",ENSP00000361548,GOF_data_set_1049_PMID_combined
MTOR_C1483Y,MTOR,C1483Y,missense,,"24631838, 26255626",ENSP00000354558,GOF_data_set_1049_PMID_combined
MTOR_E1799K,MTOR,E1799K,missense,,24631838,ENSP00000354558,GOF_data_set_1049_PMID_combined
MTOR_I2500M,MTOR,I2500M,missense,,24631838,ENSP00000354558,GOF_data_set_1049_PMID_combined
MTOR_S2215Y,MTOR,S2215Y,missense,,"20190810, 24631838, 24336570",ENSP00000354558,GOF_data_set_1049_PMID_combined
MYCN_P44L,MYCN,P44L,missense,,"23334666, 24086065",ENSP00000281043,GOF_data_set_1049_PMID_combined
MYD88_I220T,MYD88,I220T,missense,,"25359991, ",ENSP00000401399,GOF_data_set_1049_PMID_combined
MYD88_L265P,MYD88,L265P,missense,,"23836557, 21179087, 25723115, 26111727",ENSP00000379625,GOF_data_set_1049_PMID_combined
MYD88_M232T,MYD88,M232T,missense,,"21179087, 25359991",ENSP00000379625,GOF_data_set_1049_PMID_combined
MYD88_R231T,MYD88,R231T,missense,,"25359991, ",ENSP00000401399,GOF_data_set_1049_PMID_combined
MYD88_S222R,MYD88,S222R,missense,,"29427642, 25359991, 21179087, ",ENSP00000401399,GOF_data_set_1049_PMID_combined
MYD88_S243N,MYD88,S243N,missense,,"21179087, 25359991, 24534189, 2179087",ENSP00000379625,GOF_data_set_1049_PMID_combined
MYD88_T294P,MYD88,T294P,missense,,"21179087, 25359991, ",ENSP00000379625,GOF_data_set_1049_PMID_combined
MYD88_V217F,MYD88,V217F,missense,,"25359991, ",ENSP00000401399,GOF_data_set_1049_PMID_combined
NFE2L2_D13G,NFE2L2,D13G,missense,,,ENSP00000380253,GOF_data_set_1049_PMID_combined
NFE2L2_D13H,NFE2L2,D13H,missense,,,ENSP00000380253,GOF_data_set_1049_PMID_combined
NFE2L2_E63K,NFE2L2,E63K,missense,,,ENSP00000380253,GOF_data_set_1049_PMID_combined
NFE2L2_E66DL,NFE2L2,E66D,missense,,,ENSP00000380253,GOF_data_set_1049_PMID_combined
NFE2L2_G15A,NFE2L2,G15A,missense,,,ENSP00000380253,GOF_data_set_1049_PMID_combined
NFE2L2_G65S,NFE2L2,G65S,missense,,,ENSP00000380253,GOF_data_set_1049_PMID_combined
NFE2L2_R18G,NFE2L2,R18G,missense,,,ENSP00000380253,GOF_data_set_1049_PMID_combined
NFE2L2_R18P,NFE2L2,R18P,missense,,,ENSP00000380253,GOF_data_set_1049_PMID_combined
NFE2L2_R18Q,NFE2L2,R18Q,missense,,,ENSP00000380253,GOF_data_set_1049_PMID_combined
NOTCH1_A1552G,NOTCH1,A1552G,missense,,"25104330, ",P46531,GOF_data_set_1049_PMID_combined
NOTCH1_A1552V,NOTCH1,A1552V,missense,,"25104330, ",P46531,GOF_data_set_1049_PMID_combined
NOTCH1_A1570G,NOTCH1,A1570G,missense,,"25104330, ",P46531,GOF_data_set_1049_PMID_combined
NOTCH1_A1701P,NOTCH1,A1701P,missense,,"16738328, 22056382, 24651013, 16618740, 25806268",P46531,GOF_data_set_1049_PMID_combined
NOTCH1_A1707T,NOTCH1,A1707T,missense,,"25104330, ",P46531,GOF_data_set_1049_PMID_combined
NOTCH1_C1133Y,NOTCH1,C1133Y,missense,,"32792479, 29321718, ",P46531,GOF_data_set_1049_PMID_combined
NOTCH1_F1592S,NOTCH1,F1592S,missense,,"16738328, 22056382, 24651013, 16618740, 25806268",P46531,GOF_data_set_1049_PMID_combined
NOTCH1_I1616N,NOTCH1,I1616N,missense,,"16738328, 22056382, 24651013, 16618740, 25806268",P46531,GOF_data_set_1049_PMID_combined
NOTCH1_I1616T,NOTCH1,I1616T,missense,,"16738328, 22056382, 24651013, 16618740, 25806268",P46531,GOF_data_set_1049_PMID_combined
NOTCH1_I1680N,NOTCH1,I1680N,missense,,"16738328, 22056382, 24651013, 16618740, 25806268",P46531,GOF_data_set_1049_PMID_combined
NOTCH1_I1680S,NOTCH1,I1680S,missense,,"25104330, ",P46531,GOF_data_set_1049_PMID_combined
NOTCH1_I1718T,NOTCH1,I1718T,missense,,"16738328, 22056382, 24651013, 16618740, 25806268",P46531,GOF_data_set_1049_PMID_combined
NOTCH1_L1574P,NOTCH1,L1574P,missense,,"16738328, 16614245, 15472075, 20393564, 22056382, 24651013, 16618740, 25806268",P46531,GOF_data_set_1049_PMID_combined
NOTCH1_L1593P,NOTCH1,L1593P,missense,,"16738328, 22056382, 24651013, 16618740, 25806268",P46531,GOF_data_set_1049_PMID_combined
NOTCH1_L1596H,NOTCH1,L1596H,missense,,"16738328, 22056382, 24651013, 16618740, 25806268",P46531,GOF_data_set_1049_PMID_combined
NOTCH1_L1600P,NOTCH1,L1600P,missense,,"18411416, 15472075, 16738328, 22056382, 24651013, 16618740, 25806268",P46531,GOF_data_set_1049_PMID_combined
NOTCH1_L1678P,NOTCH1,L1678P,missense,,"16738328, 22056382, 24651013, 16618740, 25806268",P46531,GOF_data_set_1049_PMID_combined
NOTCH1_R1598P,NOTCH1,R1598P,missense,,"16738328, 22056382, 24651013, 16618740, 25806268",P46531,GOF_data_set_1049_PMID_combined
NOTCH1_R1627L,NOTCH1,R1627L,missense,,"25104330, ",P46531,GOF_data_set_1049_PMID_combined
NOTCH1_R1683W,NOTCH1,R1683W,missense,,"25104330, ",P46531,GOF_data_set_1049_PMID_combined
NOTCH1_V1575A,NOTCH1,V1575A,missense,,"25104330, ",P46531,GOF_data_set_1049_PMID_combined
NOTCH1_V1576E,NOTCH1,V1576E,missense,,"16738328, 22056382, 24651013, 16618740, 25806268",P46531,GOF_data_set_1049_PMID_combined
NOTCH1_V1599M,NOTCH1,V1599M,missense,,"25104330, ",P46531,GOF_data_set_1049_PMID_combined
NOTCH1_V1676D,NOTCH1,V1676D,missense,,"16738328, 22056382, 24651013, 16618740, 25806268",P46531,GOF_data_set_1049_PMID_combined
NOTCH1_V1676I,NOTCH1,V1676I,missense,,"25104330, ",P46531,GOF_data_set_1049_PMID_combined
NRAS_A146T,NRAS,A146T,missense,gain of function ,,,JAX_GOF_all
NRAS_A146V,NRAS,A146V,missense,gain of function - predicted ,17384584,,JAX_GOF_all
NRAS_A59T,NRAS,A59T,missense,gain of function - predicted ,,,JAX_GOF_all
NRAS_E132K,NRAS,E132K,missense,,"32620824, ",ENSP00000358548,GOF_data_set_1049_PMID_combined
NRAS_E63K,NRAS,E63K,missense,,"25870145, ",ENSP00000358548,GOF_data_set_1049_PMID_combined
NRAS_G12A,NRAS,G12A,missense,,"6092966, 26037647, ",ENSP00000358548,GOF_data_set_1049_PMID_combined
NRAS_G12C,NRAS,G12C,missense,,"26037647, 6092966, 21993244, 24651010",ENSP00000358548,GOF_data_set_1049_PMID_combined
NRAS_G12D,NRAS,G12D,missense,,"19075190, 25252692, 21993244, 23687087, 24651010, 25252692, 18372904",ENSP00000358548,GOF_data_set_1049_PMID_combined
NRAS_G12N,NRAS,G12N,missense,,"6092966, ",ENSP00000358548,GOF_data_set_1049_PMID_combined
NRAS_G12P,NRAS,G12P,missense,,"6092966, 8357792, ",ENSP00000358548,GOF_data_set_1049_PMID_combined
NRAS_G12R,NRAS,G12R,missense,,"6092966, 26037647, 23455880, 21993244, 24651010",ENSP00000358548,GOF_data_set_1049_PMID_combined
NRAS_G12S,NRAS,G12S,missense,,"17823240, ",ENSP00000358548,GOF_data_set_1049_PMID_combined
NRAS_G12V,NRAS,G12V,missense,,"19966803, 18952898, 21993244, 21478863, 24651010",ENSP00000358548,GOF_data_set_1049_PMID_combined
NRAS_G12Y,NRAS,G12Y,missense,,"6092966, ",ENSP00000358548,GOF_data_set_1049_PMID_combined
NRAS_G13C,NRAS,G13C,missense,,"25705018, 21850009, ",ENSP00000358548,GOF_data_set_1049_PMID_combined
NRAS_G13D,NRAS,G13D,missense,,"17517660, 26037647, 21993244, 24651010, 22722830",ENSP00000358548,GOF_data_set_1049_PMID_combined
NRAS_G13R,NRAS,G13R,missense,,"22683711, ",ENSP00000358548,GOF_data_set_1049_PMID_combined
NRAS_G13S,NRAS,G13S,missense,gain of function - predicted ,"8430333,8430333, ",ENSP00000358548,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
NRAS_G13V,NRAS,G13V,missense,,"24224811, 20371679, 21993244, 24651010",ENSP00000358548,GOF_data_set_1049_PMID_combined
NRAS_G60E,NRAS,G60E,missense,,"19966803, 19075190, 10716188, 21263000",ENSP00000358548,GOF_data_set_1049_PMID_combined
NRAS_I24N,NRAS,I24N,missense,,"32753483, 21263000, ",ENSP00000358548,GOF_data_set_1049_PMID_combined
NRAS_P34L,NRAS,P34L,missense,,"20949621, ",ENSP00000358548,GOF_data_set_1049_PMID_combined
NRAS_Q61E,NRAS,Q61E,missense,,"3510078, ",ENSP00000358548,GOF_data_set_1049_PMID_combined
NRAS_Q61H,NRAS,Q61H,missense,,"23103856, 21993244, 20194776, 23515407, 24651010",ENSP00000358548,GOF_data_set_1049_PMID_combined
NRAS_Q61K,NRAS,Q61K,missense,,"22718121, 25277205, 21993244, 20194776, 23515407, 24651010, 19492075",ENSP00000358548,GOF_data_set_1049_PMID_combined
NRAS_Q61L,NRAS,Q61L,missense,,"27251789, 25277205, 21993244, 20194776, 23515407, 24651010, 19492075",ENSP00000358548,GOF_data_set_1049_PMID_combined
NRAS_Q61P,NRAS,Q61P,missense,,"3510078, ",ENSP00000358548,GOF_data_set_1049_PMID_combined
NRAS_Q61R,NRAS,Q61R,missense,,"18814281, 25277205, 21993244, 20194776, 23515407, 24651010, 19492075",ENSP00000358548,GOF_data_set_1049_PMID_combined
NRAS_S65C,NRAS,S65C,missense,,"22589270, ",ENSP00000358548,GOF_data_set_1049_PMID_combined
NRAS_S89A,NRAS,S89A,missense,,"30712867, ",ENSP00000358548,GOF_data_set_1049_PMID_combined
NRAS_T50I,NRAS,T50I,missense,gain of function - predicted ,,,JAX_GOF_all
NRAS_T58I,NRAS,T58I,missense,,"16474405, 24265153",ENSP00000358548,GOF_data_set_1049_PMID_combined
NT5C2_E390K,NT5C2,E390K,missense,,,ENSP00000339479,GOF_data_set_1049_PMID_combined
NT5C2_R238W,NT5C2,R238W,missense,,,ENSP00000339479,GOF_data_set_1049_PMID_combined
PDGFRA_D842I,PDGFRA,D842I,missense,,"22745105, 15928335",ENSP00000257290,GOF_data_set_1049_PMID_combined
PDGFRA_D842V,PDGFRA,D842V,missense,,"29533785, 23752188, 24132921, 22665524, 18794084, 17087936, 12949711, 15928335, 23970477, 19217431, 12522257, 18955458, 22745105, 15685537, 16030188",ENSP00000257290,GOF_data_set_1049_PMID_combined
PDGFRA_D842Y,PDGFRA,D842Y,missense,,"15928335, 22745105, 24132921",ENSP00000257290,GOF_data_set_1049_PMID_combined
PDGFRA_D846Y,PDGFRA,D846Y,missense,,"15928335, 22745105",ENSP00000257290,GOF_data_set_1049_PMID_combined
PDGFRA_G853D,PDGFRA,G853D,missense,,24132921,ENSP00000257290,GOF_data_set_1049_PMID_combined
PDGFRA_H650Q,PDGFRA,H650Q,missense,,21224473,ENSP00000257290,GOF_data_set_1049_PMID_combined
PDGFRA_H845Y,PDGFRA,H845Y,missense,,24132921,ENSP00000257290,GOF_data_set_1049_PMID_combined
PDGFRA_I537D,PDGFRA,I537D,missense,,"30253204, ",ENSP00000257290,GOF_data_set_1049_PMID_combined
PDGFRA_N659K,PDGFRA,N659K,missense,,"15928335, 22745105",ENSP00000257290,GOF_data_set_1049_PMID_combined
PDGFRA_N659S,PDGFRA,N659S,missense,,21224473,ENSP00000257290,GOF_data_set_1049_PMID_combined
PDGFRA_N848K,PDGFRA,N848K,missense,,"15928335, 22745105",ENSP00000257290,GOF_data_set_1049_PMID_combined
PDGFRA_P345S,PDGFRA,P345S,missense,,"29533785, 30389923, ",ENSP00000257290,GOF_data_set_1049_PMID_combined
PDGFRA_P577S,PDGFRA,P577S,missense,,24132921,ENSP00000257290,GOF_data_set_1049_PMID_combined
PDGFRA_P577T,PDGFRA,P577T,missense,,"29533785, 30389923, ",ENSP00000257290,GOF_data_set_1049_PMID_combined
PDGFRA_R748G,PDGFRA,R748G,missense,,21224473,ENSP00000257290,GOF_data_set_1049_PMID_combined
PDGFRA_R841K,PDGFRA,R841K,missense,,24132921,ENSP00000257290,GOF_data_set_1049_PMID_combined
PDGFRA_V536E,PDGFRA,V536E,missense,,"23752188, 30253204",ENSP00000257290,GOF_data_set_1049_PMID_combined
PDGFRA_V561A,PDGFRA,V561A,missense,,24132921,ENSP00000257290,GOF_data_set_1049_PMID_combined
PDGFRA_V561D,PDGFRA,V561D,missense,,"12949711, 29533785, 17087936, 15928335, 19217431, 12522257, 18955458, 22665524, 22745105",ENSP00000257290,GOF_data_set_1049_PMID_combined
PDGFRA_V658A,PDGFRA,V658A,missense,,24132921,ENSP00000257290,GOF_data_set_1049_PMID_combined
PDGFRA_Y288C,PDGFRA,Y288C,missense,,"29533785, 30389923, ",ENSP00000257290,GOF_data_set_1049_PMID_combined
PDGFRA_Y555C,PDGFRA,Y555C,missense,,"17087943, 25975287",ENSP00000257290,GOF_data_set_1049_PMID_combined
PDGFRA_Y849C,PDGFRA,Y849C,missense,,"15928335, 15146165",ENSP00000257290,GOF_data_set_1049_PMID_combined
PDGFRA_Y849S,PDGFRA,Y849S,missense,,21224473,ENSP00000257290,GOF_data_set_1049_PMID_combined
PGR_R740Q,PGR,R740Q,missense,,,ENSP00000325120,GOF_data_set_1049_PMID_combined
PIK3CA_C378R,PIK3CA,C378R,missense,gain of function ,17363507,ENSP00000263967,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
PIK3CA_C420R,PIK3CA,C420R,missense,gain of function ,"https://cancerres.aacrjournals.org/content/canres/65/11/4562.full.pdf, 18074223, 21266528, 22949682",ENSP00000263967,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
PIK3CA_C604R,PIK3CA,C604R,missense,gain of function ,"34779417,29533785, ",ENSP00000263967,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
PIK3CA_C901F,PIK3CA,C901F,missense,gain of function - predicted ,"34779417,29533785, ",ENSP00000263967,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
PIK3CA_C971R,PIK3CA,C971R,missense,gain of function - predicted ,"34779417,23619167,23619167, 29533785, ",ENSP00000263967,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
PIK3CA_D1029Y,PIK3CA,D1029Y,missense,gain of function ,19394761,ENSP00000263967,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
PIK3CA_D350G,PIK3CA,D350G,missense,gain of function ,"24265155,29533785,24265155, 29533785",ENSP00000263967,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
PIK3CA_D350N,PIK3CA,D350N,missense,gain of function - predicted ,"29533785,29533785, ",ENSP00000263967,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
PIK3CA_D549N,PIK3CA,D549N,missense,gain of function - predicted ,"29533785,29533785, ",ENSP00000263967,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
PIK3CA_D939G,PIK3CA,D939G,missense,gain of function - predicted ,"29533785,29533785, ",ENSP00000263967,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
PIK3CA_E1037K,PIK3CA,E1037K,missense,gain of function - predicted ,"29533785,29533785, ",ENSP00000263967,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
PIK3CA_E365K,PIK3CA,E365K,missense,gain of function - predicted ,"29533785,18829572, 21266528, 29533785",ENSP00000263967,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
PIK3CA_E365V,PIK3CA,E365V,missense,gain of function ,,,JAX_GOF_all
PIK3CA_E39K,PIK3CA,E39K,missense,gain of function - predicted ,"29533785, 29636477, ",ENSP00000263967,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
PIK3CA_E418K,PIK3CA,E418K,missense,gain of function ,34779417,,JAX_GOF_all
PIK3CA_E453A,PIK3CA,E453A,missense,gain of function ,"21266528,29533785,21266528, 29533785, 20593314",ENSP00000263967,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
PIK3CA_E453K,PIK3CA,E453K,missense,gain of function ,"26627007, 29533785, 20593314, 21266528",ENSP00000263967,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
PIK3CA_E453Q,PIK3CA,E453Q,missense,gain of function ,"15930273,29533785,5930273, 15930273, 20593314",ENSP00000263967,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
PIK3CA_E542A,PIK3CA,E542A,missense,gain of function - predicted ,"29533785,29533785, ",ENSP00000263967,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
PIK3CA_E542G,PIK3CA,E542G,missense,gain of function - predicted ,"29533785,29533785, ",ENSP00000263967,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
PIK3CA_E542K,PIK3CA,E542K,missense,gain of function ,"18097548, 20593314, 16432179, 26627007, 17376864",ENSP00000263967,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
PIK3CA_E542V,PIK3CA,E542V,missense,gain of function ,"26627007, 29533785",ENSP00000263967,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
PIK3CA_E545A,PIK3CA,E545A,missense,gain of function ,"17376864, 29533785, 20593314, 26627007",ENSP00000263967,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
PIK3CA_E545D,PIK3CA,E545D,missense,gain of function - predicted ,"29533785,29533785, ",ENSP00000263967,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
PIK3CA_E545G,PIK3CA,E545G,missense,gain of function ,"17376864, 29533785, 20593314, 26627007",ENSP00000263967,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
PIK3CA_E545K,PIK3CA,E545K,missense,gain of function ,"18097548, 16322248, 20593314, 16432179, 26627007, 17376864",ENSP00000263967,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
PIK3CA_E545Q,PIK3CA,E545Q,missense,gain of function - predicted ,"26627007, 29533785, 20593314",ENSP00000263967,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
PIK3CA_E726K,PIK3CA,E726K,missense,gain of function ,"34779417,29533785, ",ENSP00000263967,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
PIK3CA_E970K,PIK3CA,E970K,missense,gain of function - predicted ,34779417,ENSP00000263967,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
PIK3CA_F930S,PIK3CA,F930S,missense,gain of function - predicted ,"28424201,28424201, ",ENSP00000263967,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
PIK3CA_G1007R,PIK3CA,G1007R,missense,gain of function ,"34779417,29533785, ",ENSP00000263967,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
PIK3CA_G1049R,PIK3CA,G1049R,missense,gain of function ,"26627007, 29533785",ENSP00000263967,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
PIK3CA_G106R,PIK3CA,G106R,missense,gain of function - predicted ,"21266528,29533785,21266528, 29533785",ENSP00000263967,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
PIK3CA_G106V,PIK3CA,G106V,missense,gain of function ,"21266528,29106415,29533785,21266528, 29106415, 29533785, 15930273",ENSP00000263967,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
PIK3CA_G118D,PIK3CA,G118D,missense,gain of function ,"29533785,22949682, 23246288",ENSP00000263967,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
PIK3CA_G364R,PIK3CA,G364R,missense,gain of function ,"21266528,29533785,21266528, 29533785, ",ENSP00000263967,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
PIK3CA_G451R,PIK3CA,G451R,missense,gain of function ,"34779417,29533785, ",ENSP00000263967,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
PIK3CA_H1047L,PIK3CA,H1047L,missense,gain of function ,"26627007, 9533785, 20593314, 22120714, 17376864",ENSP00000263967,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
PIK3CA_H1047R,PIK3CA,H1047R,missense,gain of function ,"18097548, 16322248, 19029981, 22960745, 16341083, 22214849, 16432179, 26627007, 21822287, 27126994, 25079552, 22120714, 21324922, 23940356, 25631445, 20593314, 22941189, 22370636, 23787421, 23636398, 17376864",ENSP00000263967,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
PIK3CA_H1047Y,PIK3CA,H1047Y,missense,gain of function ,"17376864, 29533785, 20593314, 26627007",ENSP00000263967,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
PIK3CA_K111E,PIK3CA,K111E,missense,gain of function ,"22949682, 21266528, 18074223",ENSP00000263967,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
PIK3CA_K111N,PIK3CA,K111N,missense,gain of function ,"17376864, 29533785, 18074223, 21266528, 26627007, 22949682",ENSP00000263967,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
PIK3CA_K944N,PIK3CA,K944N,missense,gain of function - predicted ,"28424201,28424201, ",ENSP00000263967,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
PIK3CA_K966E,PIK3CA,K966E,missense,gain of function - predicted ,"28424201,28424201, ",ENSP00000263967,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
PIK3CA_M1043I,PIK3CA,M1043I,missense,gain of function ,"17376864, 29533785, 22120714",ENSP00000263967,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
PIK3CA_M1043L,PIK3CA,M1043L,missense,gain of function - predicted ,"29533785,29533785, ",ENSP00000263967,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
PIK3CA_M1043V,PIK3CA,M1043V,missense,gain of function ,"17376864, 29533785",ENSP00000263967,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
PIK3CA_N1044K,PIK3CA,N1044K,missense,gain of function ,"26627007, 29533785",ENSP00000263967,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
PIK3CA_N345I,PIK3CA,N345I,missense,gain of function - predicted ,"26627007,26627007, 29533785, 29636477, 20593314",ENSP00000263967,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
PIK3CA_N345K,PIK3CA,N345K,missense,gain of function ,"17376864, 18074223, 20593314, 22949682",ENSP00000263967,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
PIK3CA_N345T,PIK3CA,N345T,missense,gain of function - predicted ,"29533785,29533785, ",ENSP00000263967,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
PIK3CA_P104L,PIK3CA,P104L,missense,gain of function ,"34779417,29533785, ",ENSP00000263967,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
PIK3CA_P124L,PIK3CA,P124L,missense,gain of function - predicted ,"22430209,22430209, ",ENSP00000263967,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
PIK3CA_P366R,PIK3CA,P366R,missense,gain of function - predicted ,"29533785,29533785, ",ENSP00000263967,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
PIK3CA_P449T,PIK3CA,P449T,missense,gain of function - predicted ,20530683,ENSP00000263967,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
PIK3CA_P471L,PIK3CA,P471L,missense,gain of function - predicted ,"29533785,29533785, ",ENSP00000263967,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
PIK3CA_P539R,PIK3CA,P539R,missense,gain of function ,"18951408, 17376864, 29533785",ENSP00000263967,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
PIK3CA_Q546E,PIK3CA,Q546E,missense,gain of function - predicted ,"26627007, 29533785",ENSP00000263967,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
PIK3CA_Q546K,PIK3CA,Q546K,missense,gain of function ,"17376864, 29533785, 27126994",ENSP00000263967,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
PIK3CA_Q546L,PIK3CA,Q546L,missense,gain of function - predicted ,"29533785,29533785, ",ENSP00000263967,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
PIK3CA_Q546P,PIK3CA,Q546P,missense,gain of function ,"17376864, 29533785, 17626883",ENSP00000263967,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
PIK3CA_Q546R,PIK3CA,Q546R,missense,gain of function ,"34779417,26627007, 29533785, 17626883",ENSP00000263967,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
PIK3CA_Q75E,PIK3CA,Q75E,missense,gain of function ,34779417,,JAX_GOF_all
PIK3CA_R108H,PIK3CA,R108H,missense,gain of function ,"15016963,18829572,29533785,18829572, 29533785",ENSP00000263967,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
PIK3CA_R115L,PIK3CA,R115L,missense,gain of function ,"23619167,29533785,23619167, 29533785, ",ENSP00000263967,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
PIK3CA_R115P,PIK3CA,R115P,missense,gain of function ,31632573,,JAX_GOF_all
PIK3CA_R38C,PIK3CA,R38C,missense,gain of function ,"18829572,29533785,18829572, 29533785, ",ENSP00000263967,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
PIK3CA_R38H,PIK3CA,R38H,missense,gain of function - predicted ,"15930273,29533785,15930273, 29533785, 20593314, 17376864",ENSP00000263967,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
PIK3CA_R88Q,PIK3CA,R88Q,missense,gain of function ,22949682,ENSP00000263967,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
PIK3CA_R93P,PIK3CA,R93P,missense,gain of function - predicted ,"29533785,29533785, ",ENSP00000263967,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
PIK3CA_R93W,PIK3CA,R93W,missense,gain of function ,"21266528,29533785,21266528, 29533785, 20593314, 22949682",ENSP00000263967,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
PIK3CA_S629C,PIK3CA,S629C,missense,gain of function - predicted ,"29533785,29533785, ",ENSP00000263967,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
PIK3CA_T1025A,PIK3CA,T1025A,missense,gain of function - predicted ,"29533785,29533785, ",ENSP00000263967,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
PIK3CA_T1025N,PIK3CA,T1025N,missense,gain of function - predicted ,"29533785,29533785, ",ENSP00000263967,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
PIK3CA_T1025S,PIK3CA,T1025S,missense,gain of function ,17376864,ENSP00000263967,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
PIK3CA_V344G,PIK3CA,V344G,missense,gain of function ,"34779417,29533785, ",ENSP00000263967,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
PIK3CA_V344M,PIK3CA,V344M,missense,gain of function - predicted ,"29533785,29533785, ",ENSP00000263967,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
PIK3CA_V952A,PIK3CA,V952A,missense,gain of function - predicted ,"28424201,28424201, ",ENSP00000263967,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
PIK3CA_V955G,PIK3CA,V955G,missense,gain of function - predicted ,"28424201,28424201, ",ENSP00000263967,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
PIK3CA_V955I,PIK3CA,V955I,missense,gain of function - predicted ,"28424201,28424201, ",ENSP00000263967,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
PIK3CA_Y1021C,PIK3CA,Y1021C,missense,,,ENSP00000263967,GOF_data_set_1049_PMID_combined
PIK3CB_D1067V,PIK3CB,D1067V,missense,,25982275,ENSP00000289153,GOF_data_set_1049_PMID_combined
PTPN11_A72D,PTPN11,A72D,missense,,"J Clin Oncol 32, 2014 (suppl; abstr e22174), ",ENSP00000340944,GOF_data_set_1049_PMID_combined
PTPN11_A72S,PTPN11,A72S,missense,,"16358218, 14974085",ENSP00000340944,GOF_data_set_1049_PMID_combined
PTPN11_A72V,PTPN11,A72V,missense,,"16358218, 15834506",ENSP00000340944,GOF_data_set_1049_PMID_combined
PTPN11_D106A,PTPN11,D106A,missense,,"15987685, 18286234",ENSP00000340944,GOF_data_set_1049_PMID_combined
PTPN11_D61A,PTPN11,D61A,missense,,"10594032, ",ENSP00000340944,GOF_data_set_1049_PMID_combined
PTPN11_D61G,PTPN11,D61G,missense,,"18378677, 19008228, 26673822, ",ENSP00000340944,GOF_data_set_1049_PMID_combined
PTPN11_D61Y,PTPN11,D61Y,missense,,"12717436, 15834506",ENSP00000340944,GOF_data_set_1049_PMID_combined
PTPN11_E139D,PTPN11,E139D,missense,,"29533785, 15987685, 16358218",ENSP00000340944,GOF_data_set_1049_PMID_combined
PTPN11_E76A,PTPN11,E76A,missense,,"15834506, 12717436",ENSP00000340944,GOF_data_set_1049_PMID_combined
PTPN11_E76D,PTPN11,E76D,missense,,"20308328, 15987685, 15710330, ",ENSP00000340944,GOF_data_set_1049_PMID_combined
PTPN11_E76G,PTPN11,E76G,missense,,"18559669, 26783207, ",ENSP00000340944,GOF_data_set_1049_PMID_combined
PTPN11_E76K,PTPN11,E76K,missense,,"17942397, 15834506, 12717436",ENSP00000340944,GOF_data_set_1049_PMID_combined
PTPN11_E76V,PTPN11,E76V,missense,,"25331952, ",ENSP00000340944,GOF_data_set_1049_PMID_combined
PTPN11_F285S,PTPN11,F285S,missense,,"27030275, 30375388, ",ENSP00000340944,GOF_data_set_1049_PMID_combined
PTPN11_F71I,PTPN11,F71I,missense,,15834506,ENSP00000340944,GOF_data_set_1049_PMID_combined
PTPN11_G503A,PTPN11,G503A,missense,,"27859216, ",ENSP00000340944,GOF_data_set_1049_PMID_combined
PTPN11_G503V,PTPN11,G503V,missense,,15834506,ENSP00000340944,GOF_data_set_1049_PMID_combined
PTPN11_I282V,PTPN11,I282V,missense,,"16358218, 18372317, 14974085, 15834506",ENSP00000340944,GOF_data_set_1049_PMID_combined
PTPN11_L262F,PTPN11,L262F,missense,,"28074573, ",ENSP00000340944,GOF_data_set_1049_PMID_combined
PTPN11_M504V,PTPN11,M504V,missense,,"16358218, 15834506",ENSP00000340944,GOF_data_set_1049_PMID_combined
PTPN11_N58S,PTPN11,N58S,missense,,"23825065, 23957426, ",ENSP00000340944,GOF_data_set_1049_PMID_combined
PTPN11_P491S,PTPN11,P491S,missense,,24891296,ENSP00000340944,GOF_data_set_1049_PMID_combined
PTPN11_S502T,PTPN11,S502T,missense,,15834506,ENSP00000340944,GOF_data_set_1049_PMID_combined
PTPN11_T42A,PTPN11,T42A,missense,,"15987685, 31936901, ",ENSP00000340944,GOF_data_set_1049_PMID_combined
PTPN11_T507K,PTPN11,T507K,missense,,"18223690, 15604238, 18286234",ENSP00000340944,GOF_data_set_1049_PMID_combined
PTPN11_V45L,PTPN11,V45L,missense,,15604238,ENSP00000340944,GOF_data_set_1049_PMID_combined
PTPN11_Y62C,PTPN11,Y62C,missense,,15604238,ENSP00000340944,GOF_data_set_1049_PMID_combined
PTPN11_Y63C,PTPN11,Y63C,missense,,"22711529, 15834506",ENSP00000340944,GOF_data_set_1049_PMID_combined
RAC1_P29S,RAC1,P29S,missense,,"23284172, 2546593, 22842228, 25056119, 25465943",ENSP00000258737,GOF_data_set_1049_PMID_combined
RAF1_S257L,RAF1,S257L,missense,,"12077328, 7867061, 24569458, 17603483",ENSP00000251849,GOF_data_set_1049_PMID_combined
RET_A510V,RET,A510V,missense,gain of function ,20103606,,JAX_GOF_all
RET_A883F,RET,A883F,missense,gain of function ,"24561444,24561444, 10445857, 10679286",ENSP00000347942,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
RET_A883T,RET,A883T,missense,gain of function - predicted ,"21810974,21810974, 15531548",ENSP00000347942,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
RET_C515S,RET,C515S,missense,gain of function ,"18631007,18631007, ",ENSP00000347942,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
RET_C515W,RET,C515W,missense,gain of function ,"25725622,25725622, ",ENSP00000347942,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
RET_C531R,RET,C531R,missense,gain of function ,20103606,,JAX_GOF_all
RET_C609R,RET,C609R,missense,gain of function - predicted ,"9879991,9879991, ",ENSP00000347942,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
RET_C609S,RET,C609S,missense,gain of function - predicted ,"16343103,16343103, ",ENSP00000347942,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
RET_C609Y,RET,C609Y,missense,gain of function ,"16715139, 9230192",ENSP00000347942,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
RET_C611W,RET,C611W,missense,gain of function - predicted ,"9230192,9230192, ",ENSP00000347942,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
RET_C611Y,RET,C611Y,missense,gain of function ,9230192,ENSP00000347942,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
RET_C618F,RET,C618F,missense,gain of function - predicted ,"30884088,30884088, ",ENSP00000347942,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
RET_C618G,RET,C618G,missense,gain of function - predicted ,"9230192,9230192, ",ENSP00000347942,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
RET_C618R,RET,C618R,missense,gain of function ,"9879991,9230192, 9879991",ENSP00000347942,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
RET_C618S,RET,C618S,missense,gain of function - predicted ,"9230192,9230192, ",ENSP00000347942,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
RET_C618Y,RET,C618Y,missense,gain of function ,"31364476,9230192,9230192, ",ENSP00000347942,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
RET_C620R,RET,C620R,missense,gain of function ,"9230192,36166639,9879991, 9230192",ENSP00000347942,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
RET_C620S,RET,C620S,missense,gain of function - predicted ,"9230192,9230192, ",ENSP00000347942,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
RET_C620Y,RET,C620Y,missense,gain of function ,"9012462,9012462, ",ENSP00000347942,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
RET_C630F,RET,C630F,missense,gain of function ,"9879991,9230192,9230192, ",ENSP00000347942,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
RET_C630R,RET,C630R,missense,gain of function ,"9879991,9879991, 9230192",ENSP00000347942,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
RET_C630Y,RET,C630Y,missense,gain of function ,"34905813,10049754,10049754, ",ENSP00000347942,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
RET_C634F,RET,C634F,missense,gain of function - predicted ,"9879991,9230192,9230192, ",ENSP00000347942,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
RET_C634G,RET,C634G,missense,gain of function - predicted ,"9879991,9230192,9230192, ",ENSP00000347942,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
RET_C634L,RET,C634L,missense,gain of function ,"9879991,27841748,27841748, ",ENSP00000347942,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
RET_C634R,RET,C634R,missense,gain of function ,"9242375, 10679286, 9230192",ENSP00000347942,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
RET_C634S,RET,C634S,missense,gain of function ,"9879991,15277225, 9230192",ENSP00000347942,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
RET_C634W,RET,C634W,missense,gain of function ,"10918602, 9230192, 17664273",ENSP00000347942,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
RET_C634Y,RET,C634Y,missense,gain of function ,"9230192,9230192, 10919641",ENSP00000347942,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
RET_D567N,RET,D567N,missense,gain of function ,36166639,,JAX_GOF_all
RET_D567Y,RET,D567Y,missense,gain of function ,36166639,,JAX_GOF_all
RET_D571N,RET,D571N,missense,gain of function ,36166639,,JAX_GOF_all
RET_D584N,RET,D584N,missense,gain of function ,36166639,,JAX_GOF_all
RET_D631Y,RET,D631Y,missense,gain of function ,"100,497,543,616,663,000,000,000",ENSP00000347942,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
RET_E511K,RET,E511K,missense,gain of function ,20103606,,JAX_GOF_all
RET_E574D,RET,E574D,missense,gain of function ,36166639,,JAX_GOF_all
RET_E616Q,RET,E616Q,missense,gain of function ,"27704398,27704398, ",ENSP00000347942,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
RET_E768D,RET,E768D,missense,gain of function ,10445857,ENSP00000347942,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
RET_E805K,RET,E805K,missense,gain of function - predicted ,"17047083,17047083, ",ENSP00000347942,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
RET_G533C,RET,G533C,missense,gain of function ,"36166639,21834681,36166639,21834681,21834681, ",ENSP00000347942,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
RET_G607C,RET,G607C,missense,gain of function ,36166639,,JAX_GOF_all
RET_G691S,RET,G691S,missense,,"16357163, 19561646, ",ENSP00000347942,GOF_data_set_1049_PMID_combined
RET_I852M,RET,I852M,missense,gain of function ,"21711375,21711375, 11295841",ENSP00000347942,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
RET_K666E,RET,K666E,missense,gain of function ,"21690267,21690267, ",ENSP00000347942,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
RET_K666N,RET,K666N,missense,gain of function ,20103606,,JAX_GOF_all
RET_M848T,RET,M848T,missense,gain of function - predicted ,21810974,ENSP00000347942,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
RET_M918T,RET,M918T,missense,gain of function ,"17108110,29908090,17108110, 29908090, 8755580, 22584710, 7824936, 9681850, 24561444",ENSP00000347942,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
RET_R833C,RET,R833C,missense,gain of function ,"16469774,16469774, 21810974",ENSP00000347942,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
RET_R886W,RET,R886W,missense,gain of function ,21551259,ENSP00000347942,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
RET_R912P,RET,R912P,missense,gain of function - predicted ,"29625052,29625052, ",ENSP00000347942,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
RET_S409Y,RET,S409Y,missense,gain of function ,"31364476,31364476, ",ENSP00000347942,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
RET_S649L,RET,S649L,missense,,"18322301, ",ENSP00000347942,GOF_data_set_1049_PMID_combined
RET_S891A,RET,S891A,missense,gain of function ,"15753368,15753368, 24561444, 20554711",ENSP00000347942,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
RET_T636M,RET,T636M,missense,gain of function ,"25725622,25725622, ",ENSP00000347942,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
RET_T930K,RET,T930K,missense,gain of function - predicted ,32284345,,JAX_GOF_all
RET_T930P,RET,T930P,missense,gain of function - predicted ,32284345,,JAX_GOF_all
RET_V292M,RET,V292M,missense,gain of function ,"20039896,20039896,20039896, ",ENSP00000347942,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
RET_V804L,RET,V804L,missense,gain of function ,"9242375,27712045,9242375, 27712045, 15184865",ENSP00000347942,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
RET_V804M,RET,V804M,missense,gain of function ,"16469774,16469774, 23811235, 27712045, 17047083",ENSP00000347942,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
RET_Y606C,RET,Y606C,missense,gain of function ,"36166639,18248647, ",ENSP00000347942,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
RET_Y791F,RET,Y791F,missense,gain of function ,"15753368,15753368, 9506724, 12490841, 17209045",ENSP00000347942,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
RET_Y806C,RET,Y806C,missense,gain of function - predicted ,"10679286,19029224,10679286, 19029224",ENSP00000347942,"JAX_GOF_all,GOF_data_set_1049_PMID_combined"
RHOA_E40Q,RHOA,E40Q,missense,,"26619011, 9565577",ENSP00000400175,GOF_data_set_1049_PMID_combined
ROS1_D2113G,ROS1,D2113G,missense,gain of function ,"3,758,787,226,372,960",,JAX_GOF_all
ROS1_D2113N,ROS1,D2113N,missense,gain of function ,"3,758,787,226,372,960",,JAX_GOF_all
ROS1_E2071K,ROS1,E2071K,missense,gain of function - predicted ,37587872,,JAX_GOF_all
ROS1_I2151F,ROS1,I2151F,missense,gain of function - predicted ,37587872,,JAX_GOF_all
ROS1_L1949F,ROS1,L1949F,missense,gain of function - predicted ,37587872,,JAX_GOF_all
ROS1_S1986F,ROS1,S1986F,missense,gain of function - predicted ,37587872,,JAX_GOF_all
RRAS2_A70T,RRAS2,A70T,missense,,,ENSP00000256196,GOF_data_set_1049_PMID_combined
RRAS2_Q72L,RRAS2,Q72L,missense,,8052619,ENSP00000256196,GOF_data_set_1049_PMID_combined
SETBP1_D868N,SETBP1,D868N,missense,,"23832012, 28346496, 25306901, ",Q9Y6X0,GOF_data_set_1049_PMID_combined
SETBP1_E862K,SETBP1,E862K,missense,,"28346496, ",Q9Y6X0,GOF_data_set_1049_PMID_combined
SETBP1_G870S,SETBP1,G870S,missense,,"23222956, 29875417, ",Q9Y6X0,GOF_data_set_1049_PMID_combined
SETBP1_I871T,SETBP1,I871T,missense,,"23832012, 28346496, ",Q9Y6X0,GOF_data_set_1049_PMID_combined
SETBP1_S869N,SETBP1,S869N,missense,,"28346496, ",Q9Y6X0,GOF_data_set_1049_PMID_combined
SF3B1_K666N,SF3B1,K666N,missense,,"26565915, ",ENSP00000335321,GOF_data_set_1049_PMID_combined
SF3B1_K700E,SF3B1,K700E,missense,,"26565915, ",ENSP00000335321,GOF_data_set_1049_PMID_combined
SMARCA4_R1157W,SMARCA4,R1157W,missense,gain of function ,36922568,,JAX_GOF_all
SMO_A459V,SMO,A459V,missense,,25759019,ENSP00000249373,GOF_data_set_1049_PMID_combined
SMO_D473R,SMO,D473R,missense,,"21123452, ",ENSP00000249373,GOF_data_set_1049_PMID_combined
SMO_E518A,SMO,E518A,missense,,"21123452, 25008467, ",ENSP00000249373,GOF_data_set_1049_PMID_combined
SMO_F460L,SMO,F460L,missense,,"25759020, 2575902, 25759019, 25199678",ENSP00000249373,GOF_data_set_1049_PMID_combined
SMO_K519R,SMO,K519R,missense,,"25801792, ",ENSP00000249373,GOF_data_set_1049_PMID_combined
SMO_K575M,SMO,K575M,missense,,"16339184, 12499255",ENSP00000249373,GOF_data_set_1049_PMID_combined
SMO_L412F,SMO,L412F,missense,,"25759020, 2575902, 25759019, 25199678",ENSP00000249373,GOF_data_set_1049_PMID_combined
SMO_V321M,SMO,V321M,missense,,"25759020, 2575902, 25759019, 25199678",ENSP00000249373,GOF_data_set_1049_PMID_combined
SOS1_N233Y,SOS1,N233Y,missense,,27304678,ENSP00000384675,GOF_data_set_1049_PMID_combined
SRC_E527K,SRC,E527K,missense,,"7592628, 26936507, 25350844, ",ENSP00000362680,GOF_data_set_1049_PMID_combined
SRC_K318R,SRC,K318R,missense,,"29069627, ",ENSP00000362680,GOF_data_set_1049_PMID_combined
SRC_R98W,SRC,R98W,missense,,"7687537, 31287657, ",ENSP00000362680,GOF_data_set_1049_PMID_combined
SRC_T341I,SRC,T341I,missense,,"18794843, 29930727, 19098899, ",ENSP00000362680,GOF_data_set_1049_PMID_combined
SRC_T341M,SRC,T341M,missense,,"18794843, 27222538, 15157880, ",ENSP00000362680,GOF_data_set_1049_PMID_combined
SRC_W121R,SRC,W121R,missense,,"31287657, ",ENSP00000362680,GOF_data_set_1049_PMID_combined
SRC_Y530F,SRC,Y530F,missense,,"12748308, 8702633, ",ENSP00000362680,GOF_data_set_1049_PMID_combined
STAT3_Y640F,STAT3,Y640F,missense,,"25586472, 25873174, 22591296",ENSP00000264657,GOF_data_set_1049_PMID_combined
STK19_D89N,STK19,D89N,missense,,,ENSP00000395028,GOF_data_set_1049_PMID_combined
TP63_R379C,TP63,R379C,missense,,,ENSP00000264731,GOF_data_set_1049_PMID_combined
U2AF1_Q157P,U2AF1,Q157P,missense,,"25267526, 25311244, ",ENSP00000291552,GOF_data_set_1049_PMID_combined
U2AF1_Q157R,U2AF1,Q157R,missense,,"25267526, 25311244, ",ENSP00000291552,GOF_data_set_1049_PMID_combined
U2AF1_S34F,U2AF1,S34F,missense,,"25267526, 28436936, ",ENSP00000291552,GOF_data_set_1049_PMID_combined
U2AF1_S34Y,U2AF1,S34Y,missense,,"25267526, 25311244, ",ENSP00000291552,GOF_data_set_1049_PMID_combined
XPO1_E571K,XPO1,E571K,missense,,"21741593, 21642962, 27312795, 26619011, 27479820",ENSP00000384863,GOF_data_set_1049_PMID_combined