Gene Symbol Name Entrez GeneId Genome Location Tier Hallmark Chr Band Somatic Germline Tumour Types(Somatic) Tumour Types(Germline) Cancer Syndrome Tissue Type Molecular Genetics Role in Cancer Mutation Types Translocation Partner Other Germline Mut Other Syndrome Synonyms A1CF APOBEC1 complementation factor 29974 10:50806729-50859940 2 10q11.23 yes melanoma E oncogene Mis "29974,A1CF,ENSG00000148584,Q9NQ94" ABI1 abl-interactor 1 10006 10:26748570-26860863 1 Yes 10p11.2 yes AML L Dom "TSG, fusion" T KMT2A "10006,ABI1,ENSG00000136754,Q8IZP0,SSH3BP1" ABL1 v-abl Abelson murine leukemia viral oncogene homolog 1 25 9:130835447-130885683 1 Yes 9q34.1 yes "CML, ALL, T-ALL" L Dom "oncogene, fusion" "T, Mis" "BCR, ETV6, NUP214" "25,ABL,ABL1,ENSG00000097007,P00519" ABL2 "c-abl oncogene 2, non-receptor tyrosine kinase" 27 1:179107718-179143044 1 1q24-q25 yes AML L Dom "oncogene, fusion" T ETV6 "27,ABL2,ABLL,ENSG00000143322,P42684" ACKR3 atypical chemokine receptor 3 57007 2:236580466-236581554 1 Yes 2q37.3 yes lipoma M Dom "oncogene, fusion" T HMGA2 "A8K6J4,ACKR3,CMKOR1,CXCR7,ENSG00000144476,P25106,Q53RV4,Q8NE10,Q92938,Q92986" ACSL3 acyl-CoA synthetase long-chain family member 3 2181 2:222908773-222941654 1 Yes 2q36 yes prostate E Dom fusion T ETV1 "2181,ACSL3,ENSG00000123983,FACL3,O95573" ACSL6 acyl-CoA synthetase long-chain family member 6 23305 5:131954234-132011553 2 5q31.1 yes "AML, AEL" L Dom fusion T ETV6 "23305,ACSL6,ENSG00000164398,FACL6,Q9UKU0" ACVR1 "activin A receptor, type I" 90 2:157737531-157799493 1 Yes 2q23-q24 yes DIPG O Dom oncogene Mis yes Fibrodysplasia ossificans progressiva "90,ACVR1,ACVRLK2,ENSG00000115170,Q04771" ACVR2A activin A receptor type 2A 92 2:147845153-147927274 1 2q22.3-q23.1 yes "large intestine carcinoma, stomach carcinoma, pancreatic carcinoma, biliary tract, oesophagus" E Rec TSG "Mis, N, F" "92,ACVR2,ACVR2A,ENSG00000121989,P27037" AFF1 "AF4/FMR2 family, member 1" 4299 4:87007409-87135702 1 Yes 4q21 yes AL L Dom fusion T KMT2A "4299,AFF1,ENSG00000172493,MLLT2,P51825,PBM1" AFF3 "AF4/FMR2 family, member 3" 3899 2:99551474-100104454 1 Yes 2q11.2-q12 yes "ALL, T-ALL" L Dom "oncogene, fusion" T "KMT2A, RUNX1" "3899,AFF3,ENSG00000144218,LAF4,P51826" AFF4 "AF4/FMR2 family, member 4" 27125 5:132881059-132937189 1 Yes 5q31 yes ALL L Dom "oncogene, fusion" T KMT2A "27125,AFF4,ENSG00000072364,Q9UHB7" AKAP9 A kinase (PRKA) anchor protein (yotiao) 9 10142 7:91941100-92110159 2 7q21-q22 yes papillary thyroid E Dom fusion T BRAF "10142,AKAP350,AKAP450,AKAP9,CG-NAP,ENSG00000127914,HYPERION,KIAA0803,MU-RMS-40_16A,PRKA9,Q99996,YOTIAO" AKT1 v-akt murine thymoma viral oncogene homolog 1 207 14:104770341-104792643 1 Yes 14q32.32 yes "breast, colorectal, ovarian, NSCLC" E Dom oncogene Mis "207,AKT1,ENSG00000142208,P31749" AKT2 v-akt murine thymoma viral oncogene homolog 2 208 19:40233872-40265267 1 19q13.1-q13.2 yes "ovarian, pancreatic" E Dom oncogene A "208,AKT2,ENSG00000105221,P31751" AKT3 v-akt murine thymoma viral oncogene homolog 3 10000 1:243505249-243843170 2 1q43-q44 yes GBM O oncogene A "10000,AKT3,ENSG00000117020,Q9Y243" ALDH2 aldehyde dehydrogenase 2 family (mitochondrial) 217 12:111766983-111809575 2 12q24.2 yes leiomyoma M Dom fusion T HMGA2 "217,ALDH2,ENSG00000111275,P05091" ALK anaplastic lymphoma kinase (Ki-1) 238 2:29193224-29920659 1 Yes 2p23 yes yes "ALCL, NSCLC, neuroblastoma, inflammatory myofibroblastic tumour, Spitzoid tumour" neuroblastoma familial neuroblastoma "L, E, M" Dom "oncogene, fusion" "T, Mis, A" "NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, RNF213, CARS, EML4, KIF5B, C2orf22, DCTN1, HIP1, TPR, RANBP2, PPFIBP1, SEC31A, STRN, VCL, C2orf44, KLC1" "238,ALK,ENSG00000171094,Q9UM73" AMER1 APC membrane recruitment protein 1 139285 X:64186117-64193286 1 Yes Xq11.2 yes Wilms tumour O Rec TSG "F, D, N, Mis" "139285,AMER1,ENSG00000184675,FAM123B,Q5JTC6" ANK1 ankyrin 1 286 8:41655727-41797538 2 8p11.21 yes CCRCC E Mis "286,ANK,ANK1,ENSG00000029534,P16157" APC adenomatous polyposis of the colon gene 324 5:112754891-112844126 1 Yes 5q21 yes yes "colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS" "colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS" "adenomatous polyposis coli; Turcot syndrome" "E, M, O" Rec TSG "D, Mis, N, F, S" "324,APC,ENSG00000134982,P25054" APOBEC3B apolipoprotein B mRNA editing enzyme catalytic subunit 3B 9582 22:38982454-38992445 1 Yes 22q13.1 yes breast cancer E Rec "oncogene, TSG" D "9582,APOBEC3B,ENSG00000179750,Q9UH17" AR Androgen Receptor 367 X:67545147-67723841 1 Yes Xq12 yes yes prostate E Dom oncogene Mis yes "Androgen insensitivity, Hypospadias 1, X-linked, Spinal and bulbar muscular atrophy of Kennedy" "367,AR,DHTR,ENSG00000169083,SBMA" ARAF "A-Raf proto-oncogene, serine/threonine kinase" 369 X:47562968-47571457 2 Xp11.3 yes "cholangiocarcinoma, lung adenocarcinoma, Langerhans cell histiocytosis" "E, L" oncogene Mis "369,ARAF,ARAF1,ENSG00000078061,P10398" ARHGAP26 Rho GTPase activating protein 26 23092 5:142770762-143222446 1 5q31 yes "AML, MDS" L Dom "TSG, fusion" "T, F, S" KMT2A "23092,ARHGAP26,ENSG00000145819,Q9UNA1" ARHGAP5 Rho GTPase activating protein 5 394 14:32090670-32154948 2 14q12 yes "colon cancer, glioma" "E, O" oncogene Mis "394,ARHGAP5,ENSG00000100852,GFI2,Q13017" ARHGEF10 Rho guanine nucleotide exchange factor 10 9639 8:1876561-1957263 2 8p23.3 yes colon cancer E TSG D "9639,ARHGEF10,ENSG00000104728,O15013" ARHGEF10L Rho guanine nucleotide exchange factor 10 like 55160 1:17580596-17697380 2 1p36.13 yes lymphoma L TSG D "55160,ARHGEF10L,ENSG00000074964,Q9HCE6" ARHGEF12 RHO guanine nucleotide exchange factor (GEF) 12 (LARG) 23365 11:120337244-120485077 1 11q23.3 yes AML L Dom "TSG, fusion" T KMT2A "23365,ARHGEF12,ENSG00000196914,Q9NZN5" ARID1A AT rich interactive domain 1A (SWI-like) 8289 1:26696404-26780756 1 Yes 1p35.3 yes "clear cell ovarian carcinoma, RCC, breast" E Rec "TSG, fusion" "Mis, N, F, S, D, T" MAST2 "8289,ARID1A,C1orf4,ENSG00000117713,O14497,SMARCF1" ARID1B AT rich interactive domain 1B 57492 6:156778104-157207891 1 6q25.1 yes "breast, hepatocellular carcinoma, clear cell ovarian carcinoma" E Rec TSG "Mis, F, N, O" "57492,ARID1B,ENSG00000049618" ARID2 AT rich interactive domain 2 196528 12:45729837-45905078 1 Yes 12q12 yes hepatocellular carcinoma E Rec TSG "N, S, F" "196528,ARID2,ENSG00000189079,Q68CP9" ARNT aryl hydrocarbon receptor nuclear translocator 405 1:150812021-150876567 1 Yes 1q21 yes AML L Dom "oncogene, TSG, fusion" T ETV6 "405,ARNT,ENSG00000143437,P27540" ASPSCR1 "alveolar soft part sarcoma chromosome region, candidate 1" 79058 17:81977648-82017323 1 Yes 17q25 yes alveolar soft part sarcoma M Dom fusion T TFE3 "79058,ASPSCR1,ENSG00000169696,Q9BZE9" ASXL1 additional sex combs like 1 171023 20:32358776-32437338 1 Yes 20q11.1 yes "MDS, CMML" L Rec TSG "F, N, Mis" yes Bohring-Opitz syndrome "171023,ASXL1,ENSG00000171456,Q8IXJ9" ASXL2 "additional sex combs like 2, transcriptional regulator" 55252 2:25742029-25759640 2 2p23.3 yes "melanoma, CCRCC, AML" "E, L" TSG "O,N, F" "55252,ASXL2,ENSG00000143970,Q76L83" ATF1 activating transcription factor 1 466 12:50780147-50819780 1 Yes 12q13 yes "malignant melanoma of soft parts, angiomatoid fibrous histiocytoma" "E, M" Dom "oncogene, fusion" T "EWSR1, FUS" "466,ATF1,ENSG00000123268,P18846" ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase 471 2:215312144-215349656 1 Yes 2q35 yes ALCL L Dom fusion T ALK "471,ATIC,ENSG00000138363,P31939" ATM ataxia telangiectasia mutated 472 11:108227625-108365508 1 Yes 11q22.3 yes yes T-PLL "leukaemia, lymphoma, medulloblastoma, glioma" ataxia-telangiectasia "L, O" Rec TSG "D, Mis, N, F, S" "472,ATA,ATC,ATD,ATDC,ATM,ENSG00000149311,Q13315" ATP1A1 "ATPase, Na+/K+ transporting, alpha 1 polypeptide" 476 1:116373512-116404444 1 Yes 1p21 yes adrenal aldosterone producing adenoma E Dom "oncogene, TSG" "Mis, O" "476,ATP1A1,ENSG00000163399,P05023" ATP2B3 "ATPase, Ca++ transporting, plasma membrane 3" 492 X:153536248-153580003 1 Yes Xq28 yes adrenal aldosterone producing adenoma E Dom TSG O "492,ATP2B3,CLA2,ENSG00000067842,Q16720,SCAX1" ATR ATR serine/threonine kinase 545 3:142449429-142578704 1 Yes 3q23 yes yes "endometrial, gastric, epithelial ovarian, myeloma" oropharyngeal familial cutaneous telangiectasia and cancer syndrome "E; L" Dom TSG "F; Mis" yes Seckel syndrome 1 "545,ATR,ENSG00000175054,Q13535" ATRX alpha thalassemia/mental retardation syndrome X-linked 546 X:77508351-77786001 1 Yes Xq21.1 yes "pancreatic neuroendocrine tumours, paediatric GBM" E Rec TSG "Mis, F, N" yes ATR-X (alpha thalassemia/mental retardation) syndrome "546,ATRX,ENSG00000085224,JMS,MRX52,P46100,RAD54" AXIN1 axin 1 8312 16:288122-347025 1 Yes 16p13.3 yes "colorectal, endometrial, prostate, hepatocellular carcinoma, hepatoblastoma, sporadic medulloblastoma" "E, O" Rec TSG "D, Mis, N, F, S" "8312,AXIN1,ENSG00000103126,O15169" AXIN2 axin 2 8313 17:65529976-65558620 1 Yes 17q24.1 yes yes "colorectal carcinoma, stomach carcinoma, hepatocellular carcinoma" colorectal carcinoma oligodontia-colorectal cancer syndrome E Rec TSG "Mis, F, N" "8313,AXIN2,ENSG00000168646,Q9Y2T1" B2M beta-2-microglobulin 567 15:44711547-44716342 1 Yes 15q21.1 yes "DLBCL, melanoma, colorectal adenocarcinoma" "E, L" Rec TSG "Mis, N, F" yes Immunodeficiency 43 "567,B2M,ENSG00000166710,P61769" BAP1 BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase) 8314 3:52402288-52409878 1 Yes 3p21.31-p21.2 yes yes "uveal melanoma, breast, NSCLC, RCC" "mesothelioma, uveal melanoma" E Rec TSG "N, Mis, F, S, O" "8314,BAP1,ENSG00000163930,Q92560" BARD1 BRCA1 associated RING domain 1 580 2:214728676-214809569 1 2q35 yes yes breast cancer "ovarian cancer, breast cancer, endometrioid cancer" E TSG Mis "580,BARD1,ENSG00000138376,Q99728" BAX "BCL2 associated X, apoptosis regulator" 581 19:48954929-48961097 1 19q13.33 yes colorectal cancer E TSG "F, Mis" "581,BAX,ENSG00000087088,Q07812" BAZ1A bromodomain adjacent to zinc finger domain 1A 11177 14:34753508-34874604 2 14q13.1-q13.2 yes "uterine carcinosarcoma, colon cancer" E TSG D "11177,BAZ1A,ENSG00000198604,Q9NRL2" BCL10 B-cell CLL/lymphoma 10 8915 1:85267627-85276352 1 Yes 1p22 yes MALT L Dom "TSG, fusion" T IGH "8915,BCL10,ENSG00000142867,O95999" BCL11A B-cell CLL/lymphoma 11A 53335 2:60460404-60553270 1 Yes 2p13 yes B-CLL L Dom "oncogene, fusion" T IGH "53335,BCL11A,ENSG00000119866,EVI9,Q9H165" BCL11B B-cell CLL/lymphoma 11B (CTIP2) 64919 14:99174151-99271218 1 Yes 14q32.1 yes T-ALL L Dom "oncogene, TSG, fusion" T TLX3 "64919,BCL11B,ENSG00000127152,Q9C0K0,ZNF856B" BCL2 B-cell CLL/lymphoma 2 596 18:63128625-63318666 1 18q21.3 yes "NHL, CLL" L Dom "oncogene, fusion" T IGH "596,BCL2,ENSG00000171791,P10415" BCL2L12 BCL2 like 12 83596 19:49665824-49673748 2 19q13.33 yes "melanoma, SCC" E oncogene Mis "83596,BCL2L12,ENSG00000126453,Q9HB09" BCL3 B-cell CLL/lymphoma 3 602 19:44748791-44759615 1 19q13 yes CLL L Dom "oncogene, fusion" T IGH "602,BCL3,BCL4,D19S37,ENSG00000069399,P20749" BCL6 B-cell CLL/lymphoma 6 604 3:187722458-187733693 1 3q27 yes "NHL, CLL" L Dom "oncogene, fusion" "T, Mis" "IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSP90AA1, HIST1H4I, IL21R, POU2AF1, RHOH, EIF4A2, SRSF3" "604,BCL6,ENSG00000113916,P41182,ZNF51" BCL7A B-cell CLL/lymphoma 7A 605 12:122022092-122059163 1 12q24.1 yes BNHL L Dom fusion T MYC "605,BCL7,BCL7A,ENSG00000110987,Q4VC05" BCL9 B-cell CLL/lymphoma 9 607 1:147611837-147624864 1 Yes 1q21 yes B-ALL L Dom "oncogene, fusion" T "IGH, IGL" "607,BCL9,ENSG00000116128,O00512" BCL9L B-cell CLL/lymphoma 9-like 283149 11:118898415-118909939 1 11q23.3 yes "colorectal cancer, endometrial carcinoma, gastric cancer" E "oncogene, TSG" "Mis, F" "283149,BCL9L,ENSG00000186174,Q86UU0" BCLAF1 BCL2 associated transcription factor 1 9774 6:136261259-136279866 2 6q23.3 yes "melanoma, SCC" E Mis "9774,BCLAF1,ENSG00000029363,Q9NYF8" BCOR BCL6 corepressor 54880 X:40052109-40077929 1 Yes Xp11.4 yes "retinoblastoma, AML, APL (translocation)" "L, M" Rec "TSG, fusion" "F, N, S, T" RARA yes Oculo-facio-cardio-dental genetic "54880,BCOR,ENSG00000183337,Q6W2J9" BCORL1 BCL6 corepressor-like 1 63035 X:130005232-130056136 1 Yes Xq25-q26.1 yes "AML, HNSCC" "E, L" "oncogene, TSG" "Mis, N, F" "63035,BCORL1,CXorf10,ENSG00000085185,Q5H9F3" BCR breakpoint cluster region 613 22:23180961-23315522 1 22q11.21 yes "CML, ALL, AML" L Dom fusion T "ABL1, FGFR1, JAK2" "613,BCR,BCR1,D22S11,ENSG00000186716,P11274" BIRC3 baculoviral IAP repeat-containing 3 330 11:102324510-102337102 1 Yes 11q22 yes "CLL, MALT, MCL, MM" L Dom "oncogene, TSG, fusion" "D, F, N, T, Mis" MALT1 "330,API2,BIRC3,ENSG00000023445,Q13489" BIRC6 baculoviral IAP repeat containing 6 57448 2:32357162-32617904 2 2p22.3 yes "melanoma, gastric adenocarcinoma, lung adenocarcinoma" E "oncogene, fusion" "T, Mis" ALK "57448,BIRC6,ENSG00000115760,Q9NR09" BLM Bloom Syndrome 641 15:90747393-90815279 1 Yes 15q26.1 yes "leukaemia, lymphoma, skin squamous cell, other tumour types" Bloom syndrome "L, E" Rec TSG "Mis, N, F" "641,BLM,ENSG00000197299,P54132" BMP5 bone morphogenetic protein 5 653 6:55755533-55874865 2 6p12.1 yes melanoma E Mis "653,BMP5,ENSG00000112175,P22003" BMPR1A "bone morphogenetic protein receptor, type IA" 657 10:86876019-86923719 1 Yes 10q22.3 yes gastrointestinal polyps juvenile polyposis E Rec "oncogene, TSG" "Mis, N, F" "657,ACVRLK3,ALK3,BMPR1A,CD292,ENSG00000107779,P36894" BRAF v-raf murine sarcoma viral oncogene homolog B1 673 7:140734597-140924703 1 Yes 7q34 yes "melanoma, colorectal, papillary thyroid, borderline ovarian, NSCLC, cholangiocarcinoma, pilocytic astrocytoma, Spitzoid tumour, pancreas acinar carcinoma, melanocytic nevus, prostate, gastric" "E, O" Dom "oncogene, fusion" "Mis, T, O" "AKAP9, KIAA1549, CEP88, LSM14A, SND1, FCHSD1, SLC45A3, FAM131B, RNF130, CLCN6, MKRN1, GNAI1, AGTRAP" yes Cardio-facio-cutaneous syndrome "673,BRAF,ENSG00000157764,P15056" BRCA1 familial breast/ovarian cancer gene 1 672 17:43045678-43124096 1 Yes 17q21 yes yes ovarian "breast, ovarian" hereditary breast/ovarian cancer E Rec TSG "D, Mis, N, F, S" "672,BRCA1,ENSG00000012048,P38398" BRCA2 familial breast/ovarian cancer gene 2 675 13:32316461-32398770 1 Yes 13q12 yes yes "breast, ovarian, pancreatic" "breast, ovarian, pancreatic, leukaemia (FANCB, FANCD1)" hereditary breast/ovarian cancer "L, E" Rec TSG "D, Mis, N, F, S" "675,BRCA2,ENSG00000139618,FACD,FANCD,FANCD1,P51587" BRD3 bromodomain containing 3 8019 9:134033590-134053477 1 9q34 yes lethal midline carcinoma of young people E Dom "oncogene, fusion" T NUTM1 "8019,BRD3,ENSG00000169925,Q15059" BRD4 bromodomain containing 4 23476 19:15249280-15273099 1 Yes 19p13.1 yes lethal midline carcinoma of young people E Dom "oncogene, fusion" T NUTM1 "23476,BRD4,ENSG00000141867,O60885" BRIP1 BRCA1 interacting protein C-terminal helicase 1 83990 17:61683296-61861539 1 Yes 17q22 yes "AML, leukaemia, breast" "Fanconi anaemia J, breast cancer susceptiblity" "L, E" Rec TSG "F, N, Mis" "83990,BRIP1,ENSG00000136492,Q9BX63" BTG1 "B-cell translocation gene 1, anti-proliferative" 694 12:92144080-92145535 1 12q22 yes B-CLL L Dom "TSG, fusion" T MYC "694,BTG1,ENSG00000133639,P62324" BTK Bruton agammaglobulinemia tyrosine kinase 695 X:101349885-101375284 1 Yes Xq21.33-q22 yes "CLL, mantle cell lymphoma, WM" L Dom "oncogene, TSG" Mis yes agammaglobulinemia "695,AGMX1,BTK,ENSG00000010671,IMD1,Q06187" BUB1B BUB1 budding uninhibited by benzimidazoles 1 homolog beta (yeast) 701 15:40161221-40220759 1 Yes 15q15 yes rhabdomyosarcoma mosaic variegated aneuploidy M Rec TSG "Mis, N, F, S" "701,BUB1B,ENSG00000156970,O60566" C15orf65 chromosome 15 open reading frame 65 145788 15:- 2 15q21.3 yes "PMBL, Hodgkin lymphoma" L Dom fusion T CIITA C2orf44 chromosome 2 open reading frame 44 80304 2:24030933-24039494 1 2p23.3 yes colorectal E Dom fusion T ALK "80304,C2orf44,ENSG00000163026,Q9H6R7" CACNA1D "calcium channel, voltage-dependent, L type, alpha 1D subunit" 776 3:53495167-53811406 1 Yes 3p14.3 yes adrenal aldosterone producing adenoma E Dom oncogene Mis yes "Syndrome featuring primary aldosteronism, seizures and neuromuscular disease." "776,CACNA1D,CACNL1A2,CCHL1A2,ENSG00000157388,Q01668" CALR calreticulin 811 19:12938680-12943913 1 Yes 19p13.3-p13.2 yes "MPN, MDS" L Dom oncogene "F, Mis" "811,CALR,ENSG00000179218,P27797" CAMTA1 calmodulin binding transcription activator 1 23261 1:6785531-7766491 1 Yes 1p36.31-p36.23 yes epithelioid haemangioendothelioma M Dom "TSG, fusion" T WWTR1 "23261,CAMTA1,ENSG00000171735,Q9Y6Y1" CANT1 calcium activated nucleotidase 1 124583 17:78993550-78997622 1 Yes 17q25 yes prostate E Dom fusion T ETV4 "124583,CANT1,ENSG00000171302,Q8WVQ1" CARD11 "caspase recruitment domain family, member 11" 84433 7:2906638-2958506 1 Yes 7p22 yes DLBCL L Dom oncogene Mis "84433,CARD11,ENSG00000198286,Q9BXL7" CARS cysteinyl-tRNA synthetase 833 11:3001114-3057367 1 Yes 11p15.5 yes ALCL L Dom "TSG, fusion" T ALK "833,CARS,ENSG00000110619,P49589" CASC5 cancer susceptibility candidate 5 57082 15:40602933-40654977 1 Yes 15q14 yes AML L Dom "TSG, fusion" T KMT2A "57082,CASC5,ENSG00000137812,MCPH4,Q8NG31" CASP3 caspase 3 836 4:184629272-184638453 2 4q35.1 yes ovarian cancer E TSG D "836,CASP3,ENSG00000164305,P42574" CASP8 "caspase 8, apoptosis-related cysteine peptidase" 841 2:201266487-201286594 1 Yes 2q33-q34 yes "hepatocellular, oral squamous cell, breast" E Rec TSG "N, S, F" "841,CASP8,ENSG00000064012,Q14790" CASP9 caspase 9 842 1:15492943-15524200 2 1p36.21 yes glioma O TSG D "842,CASP9,ENSG00000132906,P55211" CBFA2T3 "core-binding factor, runt domain, alpha subunit 2; translocated to, 3 (MTG-16)" 863 16:88876976-88976807 1 Yes 16q24 yes AML L Dom "TSG, fusion" T "RUNX1, GLIS2" "863,CBFA2T3,ENSG00000129993,O75081" CBFB "core-binding factor, beta subunit" 865 16:67029409-67098733 1 Yes 16q22 yes AML L Dom "TSG, fusion" T MYH11 "865,CBFB,ENSG00000067955,Q13951" CBL Cas-Br-M (murine) ecotropic retroviral transforming 867 11:119206418-119299781 1 Yes 11q23.3 yes "AML, JMML, MDS" L Dom/Rec "oncogene, TSG, fusion" "T, Mis, S, O" KMT2A "867,CBL,CBL2,ENSG00000110395,P22681" CBLB Cas-Br-M (murine) ecotropic retroviral transforming sequence b 868 3:105658970-105867577 1 Yes 3q13.11 yes AML L Rec TSG "Mis, S" "868,CBLB,ENSG00000114423,Q13191" CBLC Cas-Br-M (murine) ecotropic retroviral transforming sequence c 23624 19:44777932-44800443 1 19q13.2 yes AML L Rec "oncogene, TSG" M "23624,CBLC,ENSG00000142273,Q9ULV8" CCDC6 coiled-coil domain containing 6 8030 10:59792917-59906424 1 Yes 10q21 yes "papillary thyroid, CML, NSCLC" E Dom "TSG, fusion" T "RET, PDGFRB" "8030,CCDC6,D10S170,ENSG00000108091,Q16204,TST1" CCNB1IP1 "cyclin B1 interacting protein 1, E3 ubiquitin protein ligase" 57820 14:20311550-20316523 1 Yes 14q11.2 yes leiomyoma M Dom "TSG, fusion" T HMGA2 "57820,C14orf18,CCNB1IP1,ENSG00000100814,Q9NPC3" CCNC cyclin C 892 6:99991431-100010824 2 6q16.2 yes T-ALL L TSG D CCND1 cyclin D1 595 11:69641314-69651282 1 Yes 11q13 yes "CLL, B-ALL, breast" "L, E" Dom "oncogene, fusion" T "IGH, FSTL3" "595,BCL1,CCND1,D11S287E,ENSG00000110092,P24385,PRAD1" CCND2 cyclin D2 894 12:4274041-4300009 1 Yes 12p13 yes "NHL,CLL" L Dom "oncogene, fusion" T IGL "894,CCND2,ENSG00000118971,P30279" CCND3 cyclin D3 896 6:41935940-41941649 1 6p21 yes MM L Dom "oncogene, fusion" T IGH "896,CCND3,ENSG00000112576,P30281" CCNE1 cyclin E1 898 19:29812556-29823777 1 Yes 19q12 yes serous ovarian E Dom oncogene A "898,CCNE,CCNE1,ENSG00000105173,P24864" CCR4 C-C motif chemokine receptor 4 1233 3:32953423-32954505 2 3p22.3 yes adult T-cell leukaemia/lymphoma L oncogene N "1233,CCR4,ENSG00000183813,P51679" CCR7 C-C motif chemokine receptor 7 1236 17:40554742-40565409 2 17q21.2 yes adult T-cell leukaemia/lymphoma L oncogene N "1236,CCR7,CMKBR7,EBI1,ENSG00000126353,P32248" CD209 CD209 molecule 30835 19:7743039-7747511 2 19p13.2 yes prostate carcinoma E Mis "30835,CD209,ENSG00000090659,Q9NNX6" CD274 CD274 molecule 29126 9:5456114-5467862 1 9p24 yes "PMBL, Hodgkin lymphoma" L Dom "TSG, fusion" T CIITA "29126,CD274,ENSG00000120217,PDCD1LG1,Q9NZQ7" CD28 CD28 molecule 940 2:203706697-203734912 2 2q33.2 yes T-cell lymphoma L oncogene Mis "940,CD28,ENSG00000178562,P10747" CD74 "CD74 molecule, major histocompatibility complex, class II invariant chain" 972 5:150402584-150412749 1 5q32 yes NSCLC E Dom "oncogene, fusion" T "ROS1, NRG1" "972,CD74,DHLAG,ENSG00000019582,P04233" CD79A "CD79a molecule, immunoglobulin-associated alpha" 973 19:41877305-41880980 1 Yes 19q13.2 yes "DLBCL, WM" L Dom oncogene S yes Agammaglobulinaemia "973,CD79A,ENSG00000105369,IGA,P11912" CD79B "CD79b molecule, immunoglobulin-associated beta" 974 17:63929226-63932261 1 Yes 17q23 yes "DLBCL, WM" L Dom oncogene "Mis, S" yes Agammaglobulinaemia "974,CD79B,ENSG00000007312,IGB,P40259" CDC73 cell division cycle 73 79577 1:193122201-193250712 1 Yes 1q21-q31 yes yes parathyroid adenoma "parathyroid adenoma, multiple ossifying jaw fibroma" hyperparathyroidism-jaw tumour syndrome "E, M" Rec TSG "Mis, N, F" "79577,C1orf28,CDC73,ENSG00000134371,HRPT1,HRPT2,Q6P1J9" CDH1 "cadherin 1, type 1, E-cadherin (epithelial) (ECAD)" 999 16:68737416-68833499 1 Yes 16q22.1 yes yes "lobular breast, gastric" gastric familial gastric carcinoma E Rec TSG "Mis, N, F, S" "999,CDH1,ENSG00000039068,P12830,UVO" CDH10 cadherin 10 1008 5:24487663-24593490 2 5p14.2-p14.1 yes yes melanoma pancreatic ductal adenocarcinoma E TSG "Mis, F, N" "1008,CDH10,ENSG00000040731,Q9Y6N8" CDH11 "cadherin 11, type 2, OB-cadherin (osteoblast)" 1009 16:64947603-65004869 1 Yes 16q22.1 yes aneurysmal bone cyst M Dom "TSG, fusion" T USP6 "1009,CDH11,ENSG00000140937,P55287" CDH17 cadherin 17 1015 8:94128240-94194685 2 8q22.1 yes melanoma E oncogene Mis "1015,CDH17,ENSG00000079112,Q12864" CDK12 cyclin-dependent kinase 12 51755 17:39462072-39531316 1 Yes 17q12 yes serous ovarian E Rec TSG "Mis, N, F" "51755,CDK12,CRKRS,ENSG00000167258,Q9NYV4" CDK4 cyclin-dependent kinase 4 1019 12:57748525-57751717 1 Yes 12q14 yes melanoma familial malignant melanoma E Dom oncogene Mis "1019,CDK4,ENSG00000135446,P11802" CDK6 cyclin-dependent kinase 6 1021 7:92615140-92833323 1 Yes 7q21-q22 yes ALL L Dom "oncogene, fusion" T MLLT10 "1021,CDK6,ENSG00000105810,Q00534" CDKN1A cyclin dependent kinase inhibitor 1A 1026 6:36684102-36685800 2 6p21.2 yes bladder cancer E "oncogene, TSG" "F, N" "1026,CDKN1,CDKN1A,ENSG00000124762,P38936" CDKN1B "cyclin-dependent kinase inhibitor 1B (p27, Kip1)" 1027 12:12717840-12718946 1 12p13.1-p12 yes yes "breast, small intestine neuroendocrine tumours" "pituitary, parathyroid" multiple endocrine neoplasia type IV E Rec TSG F "1027,CDKN1B,ENSG00000111276,P46527" CDKN2A cyclin-dependent kinase inhibitor 2A (p16(INK4a)) gene 1029 9:21968229-21974827 1 Yes 9p21 yes yes "melanoma, multiple other tumour types" "melanoma, pancreatic" familial malignant melanoma "L, E, M, O" Rec TSG "D, Mis, N, F, S" "1029,CDKN2,CDKN2A,ENSG00000147889,MLM,P42771" CDKN2C "cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4)" 1031 1:50970369-50974270 1 1p32 yes "glioma, MM" "O, L" Rec TSG D "1031,CDKN2C,ENSG00000123080,P42773" CDX2 caudal type homeo box transcription factor 2 1045 13:27963115-27969006 1 13q12.3 yes AML L Dom "TSG, fusion" T ETV6 "1045,CDX2,CDX3,ENSG00000165556,Q99626" CEBPA "CCAAT/enhancer binding protein (C/EBP), alpha" 1050 19:33301338-33302414 1 19q13.1 yes "AML, MDS" L Dom TSG "Mis, N, F" "1050,CEBP,CEBPA,ENSG00000245848,P49715" CEP89 centrosomal protein 89kDa 84902 19:32879162-32971874 2 19q13.11 yes Spitzoid tumour E Dom fusion T BRAF "84902,CCDC123,CEP89,ENSG00000121289,Q96ST8" CHCHD7 coiled-coil-helix-coiled-coil-helix domain containing 7 79145 8:56214614-56217435 1 8q11.2 yes salivary adenoma E Dom fusion T PLAG1 "79145,CHCHD7,ENSG00000170791,Q9BUK0" CHD2 chromodomain helicase DNA binding protein 2 1106 15:92901238-93020325 2 15q26.1 yes "melanoma, large intestine, CLL, monoclonal B lymphocytosis" "E, L" TSG "Mis, F, N" "1106,CHD2,ENSG00000173575,O14647" CHD4 chromodomain helicase DNA binding protein 4 1108 12:6570676-6606373 1 Yes 12p13 yes uterine serous carcinoma E Dom oncogene "Mis, F, N" "1108,CHD4,ENSG00000111642,Q14839" CHEK2 CHK2 checkpoint homolog (S. pombe) 11200 22:28687897-28734721 1 Yes 22q12.1 yes breast familial breast cancer E Rec TSG F "11200,CHEK2,ENSG00000183765,O96017,RAD53" CHIC2 cysteine-rich hydrophobic domain 2 26511 4:54010095-54064300 2 4q11-q12 yes AML L Dom fusion T ETV6 "26511,CHIC2,ENSG00000109220,Q9UKJ5" CHST11 carbohydrate sulfotransferase 11 50515 12:104457412-104757803 2 12q23.3 yes B-CLL L "oncogene, fusion" T "50515,CHST11,ENSG00000171310,Q9NPF2" CIC capicua homolog 23152 19:42284705-42295191 1 Yes 19q13.2 yes "oligodendroglioma, soft tissue sarcoma" "O, M" Rec "oncogene, TSG, fusion" "Mis, F, S,T" "DUX4L1, FOXO4" "23152,CIC,ENSG00000079432" CIITA "class II, major histocompatibility complex, transactivator" 4261 16:10877332-10923304 1 Yes 16p13 yes "PMBL, Hodgkin lymphoma" L Dom "TSG, fusion" T "C15orf55, CD274, PDCD1LG2, RALGDS, RUNDC2A, RMI2, BCL6" "4261,CIITA,ENSG00000179583,MHC2TA,P33076" CLIP1 CAP-GLY domain containing linker protein 1 6249 12:122272875-122380452 1 Yes 12q24.3 yes Spitzoid tumour E Dom fusion T ROS1 "6249,CLIP1,ENSG00000130779,P30622,RSN" CLP1 cleavage and polyadenylation factor I subunit 1 10978 11:57659477-57661436 2 11q12 yes AML L Dom fusion T KMT2A "10978,CLP1,ENSG00000172409,Q92989" CLTC "clathrin, heavy polypeptide (Hc)" 1213 17:59620133-59693853 1 Yes 17q11-qter yes "ALCL, renal" L Dom "TSG, fusion" T "ALK, TFE3" "1213,CLTC,CLTCL2,ENSG00000141367,Q00610" CLTCL1 "clathrin, heavy polypeptide-like 1" 8218 22:19180219-19291641 1 Yes 22q11.21 yes ALCL L Dom "TSG, fusion" T ? "8218,CLTCL,CLTCL1,ENSG00000070371,P53675" CNBD1 cyclic nucleotide binding domain containing 1 168975 8:86866496-87382627 2 8q21.3 yes "gastric cancer, colon cancer" E Mis "168975,CNBD1,ENSG00000176571,Q8NA66" CNBP "CCHC-type zinc finger, nucleic acid binding protein" 7555 3:129170453-129171757 1 Yes 3q21 yes aneurysmal bone cyst M Dom "TSG, fusion" T USP6 "7555,CNBP,DM2,ENSG00000169714,P62633,ZNF9" CNOT3 CCR4-NOT transcription complex subunit 3 4849 19:54142979-54155407 1 Yes 19q13.4 yes T-ALL L Rec TSG "Mis, N, F" "4849,CNOT3,ENSG00000088038,NOT3,O75175" CNTNAP2 contactin associated protein like 2 26047 7:146116877-148415616 2 7q35-q36.1 yes "glioma, melanoma" "E, O" TSG Mis "26047,CNTNAP2,ENSG00000174469,Q9UHC6" CNTRL centriolin 11064 9:121088328-121177187 1 9q33.2 yes "MPN, NHL" L Dom fusion T FGFR1 "11064,CEP1,CEP110,CNTRL,ENSG00000119397,Q7Z7A1" COL1A1 "collagen, type I, alpha 1" 1277 17:50185502-50201513 1 17q21.31-q22 yes "DFSP, aneurysmal bone cyst" M Dom fusion T "PDGFB, USP6" yes Osteogenesis imperfecta "1277,COL1A1,ENSG00000108821,P02452" COL2A1 "collagen, type II, alpha 1" 1280 12:47973407-48004321 1 12q13.11 yes "chondrosarcoma, enchondroma" "L, E, M" Rec fusion "F, Mis, N, T" yes "Spondyloepiphyseal Dysplasia Congenita, Achondrogenesis Type II, Stickler Syndrome, Type I and others" "1280,AOM,COL2A1,ENSG00000139219,P02458,SEDC" COL3A1 collagen type III alpha 1 chain 1281 2:188974490-189011774 2 2q32.2 yes lipoblastoma E fusion T PLAG1 "1281,COL3A1,EDS4A,ENSG00000168542,P02461" COX6C cytochrome c oxidase subunit VIc 1345 8:99878148-99892021 2 8q22-q23 yes uterine leiomyoma M Dom fusion T HMGA2 "1345,COX6C,ENSG00000164919,P09669" CPEB3 cytoplasmic polyadenylation element binding protein 3 22849 10:92052212-92240350 2 10q23.32 yes lung cancer E TSG D "22849,CPEB3,ENSG00000107864,Q8NE35" CREB1 cAMP responsive element binding protein 1 1385 2:207555637-207597059 1 2q34 yes "clear cell sarcoma, angiomatoid fibrous histiocytoma" M Dom "oncogene, fusion" T EWSR1 "1385,CREB1,ENSG00000118260,P16220" CREB3L1 cAMP responsive element binding protein 3-like 1 90993 11:46278112-46320746 1 Yes 11p11.2 yes myxofibrosarcoma M Dom "TSG, fusion" T FUS "90993,CREB3L1,ENSG00000157613,Q96BA8" CREB3L2 cAMP responsive element binding protein 3-like 2 64764 7:137880476-138001705 1 Yes 7q34 yes fibromyxoid sarcoma M Dom "oncogene, fusion" T FUS "64764,CREB3L2,ENSG00000182158,Q70SY1" CREBBP CREB binding protein (CBP) 1387 16:3727718-3879916 1 Yes 16p13.3 yes "ALL, AML, DLBCL, B-NHL" L Dom/Rec "oncogene, TSG, fusion" "T, N, F, Mis, O" "KMT2A, MORF, KAT6A" yes Rubinstein-Taybi syndrome "1387,CREBBP,ENSG00000005339,Q92793,RSTS" CRLF2 cytokine receptor-like factor 2 64109 "X,Y:1196780-1212634" 1 Yes "Xp22.3; Yp11.3" yes "B-ALL, Downs associated ALL" L Dom "oncogene, fusion" "Mis, T" "P2RY8, IGH" "64109,CRLF2,ENSG00000205755" CRNKL1 crooked neck pre-mRNA splicing factor 1 51340 20:20036195-20056014 2 20p11.23 yes base cell carcinoma E Mis "51340,CRNKL1,ENSG00000101343,Q9BZJ0" CRTC1 CREB regulated transcription coactivator 1 23373 19:18683703-18777382 1 Yes 19p13.11 yes salivary gland mucoepidermoid E Dom "oncogene, fusion" T MAML2 "23373,CRTC1,ENSG00000105662,MECT1,Q6UUV9" CRTC3 CREB regulated transcription coactivator 3 64784 15:90530072-90642140 1 15q26.1 yes salivary gland mucoepidermoid E Dom fusion T MAML2 "64784,CRTC3,ENSG00000140577,Q6UUV7" CSF1R colony stimulating factor 1 receptor 1436 5:150054069-150086427 2 5q32 yes "MDS, CML, AML, hemangioblastoma, CCRCC" "L, M, E" oncogene "Mis, N" yes diffuse leukoencephalopathy with spheroids "1436,CSF1R,ENSG00000182578,FMS,P07333" CSF3R colony stimulating factor 3 receptor (granulocyte) 1441 1:36466357-36479496 1 1p35-p34.4 yes "aCML, CNL, leukaemia lymphoma and MDS associated with severe congenital neutropenia, CMML, de novo AML, MDS" L Dom oncogene "Mis, N" yes "Kostmann syndrome, severe congenital neutropenia" "1441,CD114,CSF3R,ENSG00000119535,Q99062" CSMD3 CUB and Sushi multiple domains 3 114788 8:112224771-113436854 2 8q23.3 yes "ovarian cancer, oral SCC, lung cancer" E TSG "Mis, N" "114788,CSMD3,ENSG00000164796,Q7Z407" CTCF CCCTC-binding factor 10664 16:67610833-67637872 1 Yes 16q22.1 yes "endometrial, breast, head and neck cancer" E Dom TSG "Mis, N" "Mental retardation, autosomal dominant 21" "10664,CTCF,ENSG00000102974,P49711" CTNNA2 catenin alpha 2 1496 2:- 2 2p12 yes gastric cancer E oncogene "Mis, S" CTNNB1 "catenin (cadherin-associated protein), beta 1" 1499 3:41224069-41239342 1 3p22-p21.3 yes "colorectal, ovarian, hepatoblastoma, pleomorphic salivary gland adenoma, other tumour types" "E, M, O" Dom "oncogene, fusion" "Mis, O, T" PLAG1 "1499,CTNNB,CTNNB1,ENSG00000168036,P35222" CTNND1 catenin delta 1 1500 11:57791479-57816308 2 11q12.1 yes large intestine carcinoma E N "1500,CTNND,CTNND1,ENSG00000198561,O60716" CTNND2 catenin delta 2 1501 5:10973453-11903853 2 5p15.2 yes "prostae adenocarcinoma, GIST" E oncogene Mis "1501,CTNND2,ENSG00000169862,Q9UQB3" CUL3 cullin 3 8452 2:224474245-224585009 2 2q36.2 yes lung cancer E TSG N "8452,CUL3,ENSG00000036257,Q13618" CUX1 cut-like homeobox 1 1523 7:101817640-102249042 1 Yes 7q22.1 yes "endometrial, melanoma, colorectal, AML, MDS, other tumour types" "E,L,M,O" Dom "oncogene, TSG" "N,F,S,Mis,O,T" CLDN7 "1523,CUTL1,CUX1,ENSG00000257923,P39880" CXCR4 C-X-C motif chemokine receptor 4 7852 2:136114869-136115939 1 Yes 2q21 yes yes WM L Dom oncogene "Mis, N, F" "7852,CXCR4,ENSG00000121966,P61073" CYLD familial cylindromatosis gene 1540 16:50749699-50796508 1 Yes 16q12-q13 yes yes cylindroma cylindroma "familial cylindromatosis, familial trichoepithelioma, Brooke-Spiegler syndrome" E Rec TSG "Mis, N, F, S" "1540,CYLD,CYLD1,ENSG00000083799,Q9NQC7" CYP2C8 cytochrome P450 family 2 subfamily C member 8 1558 10:95037128-95069402 2 10q23.33 yes melanoma E Mis "1558,CPC8,CYP2C8,ENSG00000138115,P450 MP-12/MP-20,P450MP-12/MP-20" CYSLTR2 cysteinyl leukotriene receptor 2 57105 13:48706818-48707858 2 13q14.2 yes uveal melanoma E oncogene Mis "57105,CYSLTR2,ENSG00000152207,Q9NS75" DAXX death-domain associated protein 1616 6:33318743-33321925 1 Yes 6p21.3 yes "pancreatic neuroendocrine tumour, paediatric glioblastoma" E Rec "oncogene, TSG" "Mis, F, N" "1616,DAXX,ENSG00000204209,Q9UER7" DCAF12L2 DDB1 and CUL4 associated factor 12 like 2 340578 X:126164533-126165924 2 Xq25 yes CRC E Mis "340578,DCAF12L2,ENSG00000198354,Q5VW00,WDR40C" DCC DCC netrin 1 receptor 1630 18:52340788-53530653 2 18q21.2 yes "CRC, melanoma, SCC" E "Mis, N, D" "1630,DCC,ENSG00000187323,P43146" DCTN1 dynactin 1 1639 2:74361499-74380037 1 2p13 yes "inflammatory myofibroblastic tumour, Spitzoid tumour" M Dom fusion T "ALK, ROS1" yes "Distal hereditary motor neuronopathy, susceptibility to amyotrophic lateral sclerosis, Perry syndrome" "1639,DCTN1,ENSG00000204843,Q14203" DDB2 damage-specific DNA binding protein 2 1643 11:47215137-47238849 1 Yes 11p12 yes "skin basal cell, skin squamous cell, melanoma" xeroderma pigmentosum (E) E Rec "oncogene, TSG" "Mis, N" "1643,DDB2,ENSG00000134574,Q92466" DDIT3 DNA-damage-inducible transcript 3 1649 12:57516809-57517406 1 Yes 12q13.1-q13.2 yes liposarcoma M Dom "oncogene, fusion" T "FUS, EWSR1" "1649,DDIT3,ENSG00000175197,P35638" DDR2 discoidin domain receptor 2 4921 1:162719064-162780246 1 Yes 1q12-q23 yes "squamous cell carcinoma, NSCLC" E Dom oncogene "Mis, N" yes "Spondylometaepiphyseal dysplasia, short limb-hand type" "4921,DDR2,ENSG00000162733,NTRKR3,Q16832,TYRO10" DDX10 DEAD (Asp-Glu-Ala-Asp) box polypeptide 10 1662 11:108665154-108940423 1 Yes 11q22-q23 yes AML* L Dom "TSG, fusion" T NUP98 "1662,DDX10,ENSG00000178105,Q13206" DDX3X "DEAD-box helicase 3, X-linked" 1654 X:41334253-41347719 1 Yes Xp11.4 yes "CLL, medulloblastoma" "L, O" TSG "Mis, N, F" yes "Mental retardation, X-linked 102" "1654,DDX3,DDX3X,ENSG00000215301,O00571" DDX5 DEAD (Asp-Glu-Ala-Asp) box polypeptide 5 1655 17:64499923-64506119 1 Yes 17q21 yes prostate E Dom "oncogene, fusion" T ETV4 "1655,DDX5,ENSG00000108654,G17P1,HLR1,P17844" DDX6 DEAD (Asp-Glu-Ala-Asp) box polypeptide 6 1656 11:118754712-118786218 1 Yes 11q23.3 yes B-NHL L Dom "oncogene, fusion" T IGH "1656,DDX6,ENSG00000110367,HLR2,P26196" DEK DEK oncogene (DNA binding) 7913 6:18225719-18263987 1 6p23 yes AML L Dom "oncogene, fusion" T NUP214 "7913,DEK,ENSG00000124795,P35659" DGCR8 "DGCR8, microprocessor complex subunit" 54487 22:20085964-20110108 2 22q11.21 yes Wilms tumour O oncogene Mis "54487,C22orf12,DGCR8,ENSG00000128191,Q8WYQ5" DICER1 "dicer 1, ribonuclease type III" 23405 14:95090498-95133458 1 Yes 14q32.13 yes yes "sex cord-stromal tumour, TGCT, embryonal rhabdomyosarcoma, pleuropulmonary blastoma, pituitary blastoma, Wilms tumour, thyroid cancer, other tumour types" pleuropulmonary blastoma familial pleuropulmonary blastoma or DICER1 syndrome "E, M, O" Rec TSG "Mis, F, N" "23405,DICER1,ENSG00000100697,MNG1,Q9UPY3" DNAJB1 DnaJ heat shock protein family (Hsp40) member B1 3337 19:14515940-14518349 1 19p13.2 yes fibrolamellar hepatocellular carcinoma E Dom fusion T PRKACA "3337,DNAJB1,ENSG00000132002,HSPF1,P25685" DNM2 dynamin 2 1785 19:10718243-10831047 1 Yes 19p13.2 yes T-ALL L Rec TSG "F, N, S, Mis, O" yes "Charcot-Marie-Tooth disease, centronuclear myopathy, lethal congenital contracture syndrome 5" "1785,DNM2,ENSG00000079805,P50570" DNMT3A DNA (cytosine-5-)-methyltransferase 3 alpha 1788 2:25234279-25313984 1 2p23 yes AML L Dom TSG "Mis, F, N, S" "1788,DNMT3A,ENSG00000119772,Q9Y6K1" DROSHA drosha ribonuclease III 29102 5:31401432-31529059 1 Yes 5q11.2 yes "Wilms tumour, NSCLC, bladder carcinoma" "E, O" TSG "A, Mis, N, F" "29102,DROSHA,ENSG00000113360,Q9NRR4,RNASEN" DUX4L1 double homeobox 4 like 1 22947 4:190084229-190085686 2 4q35 yes soft tissue sarcoma M Dom fusion T CIC "22947,DUX4,ENSG00000258389" EBF1 early B-cell factor 1 1879 5:158699111-159099478 1 Yes 5q34 yes lipoma M Dom "TSG, fusion" T HMGA2 "1879,EBF,EBF1,ENSG00000164330,Q9UH73" ECT2L epithelial cell transforming sequence 2 oncogene-like 345930 6:138813275-138902627 2 6q24.1 yes ETP ALL L Rec "N, S, Mis" "345930,C6orf91,ECT2L,ENSG00000203734,Q008S8" EED embryonic ectoderm development 8726 11:86245230-86278525 2 11q14.2 yes "malignant peripheral nerve sheath tumours, MDS and related, lung adenocarcinoma" "E, L" TSG "Mis, F" "8726,EED,ENSG00000074266,O75530" EGFR "epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)" 1956 7:55019278-55205617 1 Yes 7p12.3-p12.1 yes yes "glioma, NSCLC" NSCLC familial lung cancer "E, O" Dom oncogene "A, O, Mis" "1956,EGFR,ENSG00000146648,ERBB,P00533" EIF1AX "eukaryotic translation initiation factor 1A, X-linked" 1964 X:20128306-20141640 2 Xp22.12 yes "uveal melanoma, thyroid cancer (PDTC and ATC), low grade serous ovarian cancer" E "Mis, S" "1964,EIF1A,EIF1AX,EIF4C,ENSG00000173674,P47813" EIF3E "eukaryotic translation initiation factor 3, subunit E" 3646 8:108201885-108248702 1 Yes 8q22-q23 yes colorectal E Dom "TSG, fusion" T RSPO3 "3646,EIF3E,EIF3S6,ENSG00000104408,INT6,P60228" EIF4A2 "eukaryotic translation initiation factor 4A, isoform 2" 1974 3:186783611-186789269 1 Yes 3q27.3 yes NHL L Dom fusion T BCL6 "1974,EIF4A2,EIF4F,ENSG00000156976,Q14240" ELF3 E74 like ETS transcription factor 3 1999 1:202011137-202015323 2 1q32.1 yes pancreatic cancer E TSG "Mis, N, F" "1999,ELF3,ENSG00000163435,ESX,P78545" ELF4 E74-like factor 4 (ets domain transcription factor) 2000 X:130066721-130081330 1 Yes Xq26 yes AML L Dom "oncogene, TSG, fusion" T ERG "2000,ELF4,ENSG00000102034,Q99607" ELK4 "ELK4, ETS-domain protein (SRF accessory protein 1)" 2005 1:205616546-205623882 1 Yes 1q32 yes prostate E Dom "oncogene, fusion" T SLC45A3 "2005,ELK4,ENSG00000158711,P28324" ELL ELL gene (11-19 lysine-rich leukemia gene) 8178 19:18444752-18522055 1 Yes 19p13.1 yes AL L Dom "TSG, fusion" T KMT2A "8178,C19orf17,ELL,ENSG00000105656,P55199" ELN elastin 2006 7:74028188-74068700 2 7q11.23 yes B-ALL L Dom fusion T PAX5 yes "Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome" "2006,ELN,ENSG00000049540,P15502" EML4 echinoderm microtubule associated protein like 4 27436 2:42169613-42330208 1 Yes 2p21 yes NSCLC E Dom fusion T ALK "27436,C2orf2,EML4,ENSG00000143924,Q9HC35" EP300 300 kd E1A-Binding protein gene 2033 22:41093005-41178956 1 Yes 22q13 yes "colorectal, breast, pancreatic, AML, ALL, DLBCL" "L, E" Rec "TSG, fusion" "T, N, F, Mis, O" "KMT2A, KAT6A" "2033,ENSG00000100393,EP300,Q09472" EPAS1 endothelial PAS domain protein 1 2034 2:46297912-46384660 1 Yes 2p21-p16 yes "paraganglioma, pheochromocytoma, central nervous system hemangioblastomas" "E, M" Dom "oncogene, TSG" Mis yes type 3 familial erythrocytosis "2034,ENSG00000116016,EPAS1,Q99814" EPHA3 EPH receptor A3 2042 3:89107749-89479502 2 3p11.1 yes "lung cancer, CRC, melanoma" E Mis "2042,ENSG00000044524,EPHA3,ETK,ETK1,P29320,TYRO4" EPHA7 EPH receptor A7 2045 6:93243426-93419341 2 6q16.1 yes "CRC, melanoma" E Mis "2045,ENSG00000135333,EPHA7,Q15375" EPS15 epidermal growth factor receptor pathway substrate 15 (AF1p) 2060 1:51356700-51519231 1 Yes 1p32 yes ALL L Dom "TSG, fusion" T KMT2A "2060,ENSG00000085832,EPS15,P42566" ERBB2 "v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)" 2064 17:39700239-39728044 1 Yes 17q21.1 yes "breast, ovarian, other tumour types, NSCLC, gastric" E Dom "oncogene, fusion" "A, Mis, O" "2064,ENSG00000141736,ERBB2,HER2,NGL,P04626" ERBB3 erb-b2 receptor tyrosine kinase 3 2065 12:56080301-56102055 1 Yes 12q13 yes "colon, gastric, head and neck, bladder, skin" E Dom oncogene "Mis, N" "2065,ENSG00000065361,ERBB3,LCCS2,P21860" ERBB4 erb-b2 receptor tyrosine kinase 4 2066 2:211383615-212538530 1 Yes 2q33.3-q34 yes yes "melanoma, gastric, NSCLC" E Dom "oncogene, TSG" "Mis, N" yes Amyotrophic lateral sclerosis 19 "2066,ENSG00000178568,ERBB4,Q15303" ERC1 ELKS/RAB6-interacting/CAST family member 1 23085 12:1027904-1490230 1 Yes 12p13.3 yes "papillary thyroid, Spitzoid tumour" E Dom fusion T "RET, ROS1" "23085,ENSG00000082805,ERC1,Q8IUD2,RAB6IP2" ERCC2 "excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)" 2068 19:45351629-45370237 1 Yes 19q13.2-q13.3 yes "skin basal cell, skin squamous cell, melanoma" xeroderma pigmentosum (D) E Rec TSG "Mis, N, F, S" "2068,ENSG00000104884,ERCC2,P18074,XPD" ERCC3 "excision repair cross-complementing rodent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complementing)" 2071 2:127257596-127294081 1 Yes 2q21 yes "skin basal cell, skin squamous cell, melanoma" xeroderma pigmentosum (B) E Rec TSG "Mis, S" "2071,ENSG00000163161,ERCC3,P19447" ERCC4 "excision repair cross-complementing rodent repair deficiency, complementation group 4" 2072 16:13920166-13948347 1 Yes 16p13.3-p13.13 yes "skin basal cell, skin squamous cell, melanoma" xeroderma pigmentosum (F) E Rec TSG "Mis, N, F" "2072,ENSG00000175595,ERCC4,Q92889,XPF" ERCC5 "excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome))" 2073 13:102846267-102875903 1 Yes 13q33 yes "skin basal cell, skin squamous cell, melanoma" xeroderma pigmentosum (G) E Rec TSG "Mis, N, F" "2073,ENSG00000134899,ERCC5,ERCM2,P28715,XPGC" ERG v-ets erythroblastosis virus E26 oncogene like (avian) 2078 21:38383403-38575700 1 Yes 21q22.3 yes "Ewing sarcoma, prostate, AML" "M, E, L" Dom "oncogene, fusion" "T, A" "EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1" "2078,ENSG00000157554,ERG,P11308" ESR1 estrogen receptor 1 2099 6:151807913-152098966 1 Yes 6q25.1 yes breast E Dom "oncogene, TSG, fusion" Mis "2099,ENSG00000091831,ESR,ESR1,P03372" ETNK1 ethanolamine kinase 1 55500 12:22625164-22684954 1 Yes 12p12.1 yes "aCML, CMML, SM-AHD, HES" L Dom TSG Mis "55500,ENSG00000139163,ETNK1,Q9HBU6" ETV1 ets variant gene 1 2115 7:13895866-13989052 1 7p22 yes "Ewing sarcoma, prostate" "M, E" Dom "oncogene, fusion" T "EWSR1, TMPRSS2, SLC45A3, HMGN2P46, HNRNPA2B1. ACSL3" "2115,ENSG00000006468,ETV1,P50549" ETV4 "ets variant gene 4 (E1A enhancer binding protein, E1AF)" 2118 17:43528519-43545617 1 17q21 yes "Ewing sarcoma, prostate carcinoma" "M, E" Dom "oncogene, fusion" T "EWSR1, TMPRSS2, DDX5, KLK2, CANT1" "2118,ENSG00000175832,ETV4,P43268" ETV5 ets variant gene 5 2119 3:186048639-186105868 1 3q28 yes prostate E Dom "oncogene, fusion" T "TMPRSS2, SCL45A3" "2119,ENSG00000244405,ETV5,P41161" ETV6 ets variant gene 6 (TEL oncogene) 2120 12:11650128-11891046 1 Yes 12p13 yes "congenital fibrosarcoma, multiple different leukaemia and lymphoma tumour types including ALL, secretory breast, MDS" "L, E, M" Dom "TSG, fusion" T "NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, ACSL6, CHIC2, ARNT, JAK2, MECOM, CDX2, RNF217-AS1, MNX1, MDS2, PER1, SYK, TTL, FGFR3, PAX5" "2120,ENSG00000139083,ETV6,P41212" EWSR1 Ewing sarcoma breakpoint region 1 (EWS) 2130 22:29268337-29300161 1 Yes 22q12 yes "Ewing sarcoma, desmoplastic small round cell tumour , ALL, clear cell sarcoma, sarcoma, myoepithelioma, mesothelioma" "L, M, E" Dom "oncogene, fusion" T "FLI1, ERG, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1, PBX1, NFATC1, NFATC2, DDIT3, PATZ1, SMARCA5, SP3, ZNF444, YY1" "2130,ENSG00000182944,EWSR1,Q01844" EXT1 multiple exostoses type 1 gene 2131 8:117799712-118111046 1 8q24.11-q24.13 yes "exostoses, osteosarcoma" multiple exostoses type 1 M Rec "TSG, fusion" "Mis, N, F, S" "2131,ENSG00000182197,EXT1,LGCR,LGS,Q16394" EXT2 multiple exostoses type 2 gene 2132 11:44107713-44244287 1 11p12-p11 yes "exostoses, osteosarcoma" multiple exostoses type 2 M Rec TSG "Mis, N, F, S" "2132,ENSG00000151348,EXT2,Q93063" EZH2 enhancer of zeste homolog 2 2146 7:148807646-148847298 1 7q35-q36 yes DLBCL L Dom "oncogene, TSG" Mis "2146,ENSG00000106462,EZH2,Q15910" EZR ezrin 7430 6:158766914-158818093 1 Yes 6q25.3 yes NSCLC E Dom fusion T ROS1 "7430,ENSG00000092820,EZR,P15311,VIL2" FAM131B "family with sequence similarity 131, member B" 9715 7:143356550-143360093 2 7q34 yes pilocytic astrocytoma O Dom fusion T BRAF "9715,ENSG00000159784,FAM131B,Q86XD5" FAM135B family with sequence similarity 135 member B 51059 8:138132593-138367983 2 8q24.23 yes SCLC E Mis "51059,ENSG00000147724,FAM135B,Q49AJ0" FAM46C "family with sequence similarity 46, member C" 54855 1:117622869-117624044 1 1p12 yes MM L Rec TSG "Mis, F, O" "54855,ENSG00000183508,FAM46C,Q5VWP2" FAM47C family with sequence similarity 47 member C 442444 X:37008411-37011518 2 Xp21.1 yes "melanoma, clear cell sarcoma of soft parts, SCLC" "E, M" Mis "442444,ENSG00000198173,FAM47C,Q5HY64" FANCA "Fanconi anemia, complementation group A" 2175 16:89738601-89816615 1 16q24.3 yes "AML, leukaemia" Fanconi anaemia A L Rec TSG "D, Mis, N, F, S" "2175,ENSG00000187741,FACA,FANCA,FANCH,O15360" FANCC "Fanconi anemia, complementation group C" 2176 9:95101707-95249291 1 9q22.3 yes "AML, leukaemia" Fanconi anaemia C L Rec TSG "D, Mis, N, F, S" "2176,ENSG00000158169,FACC,FANCC,Q00597" FANCD2 "Fanconi anemia, complementation group D2" 2177 3:10028658-10098950 1 Yes 3p26 yes "AML, leukaemia" Fanconi anaemia D2 L Rec TSG "D, Mis, N, F" "2177,ENSG00000144554,FACD,FANCD,FANCD2,Q9BXW9" FANCE "Fanconi anemia, complementation group E" 2178 6:35452546-35466345 1 6p21-p22 yes "AML, leukaemia" Fanconi anaemia E L Rec TSG "N, F, S" "2178,ENSG00000112039,FACE,FANCE,Q9HB96" FANCF "Fanconi anemia, complementation group F" 2188 11:22624686-22625810 1 11p15 yes "AML, leukaemia" Fanconi anaemia F L Rec TSG "N, F" "2188,ENSG00000183161,FANCF,Q9NPI8" FANCG "Fanconi anemia, complementation group G" 2189 9:35074108-35079524 1 9p13 yes "AML, leukaemia" Fanconi anaemia G L Rec TSG "Mis, N, F, S" "2189,ENSG00000221829,FANCG,O15287,XRCC9" FAS Fas cell surface death receptor 355 10:88990877-89014450 1 Yes 10q24.1 yes "TGCT, nasal NK/T lymphoma, skin squamous cell carcinoma-burn scar related" "L, E, O" Rec TSG Mis yes Autoimmune lymphoproliferative syndrome "355,ALPS1A,APO-1,APT1,CD95,ENSG00000026103,FAS,FAS1,FASTM,P25445,TNFRSF6" FAT1 FAT atypical cadherin 1 2195 4:186588592-186709827 1 Yes 4q35.2 yes yes "oral squamous cell, chemorefractory CLL, head and neck, pancreatic acinar cell carcinoma" pancreatic "E, L" TSG "Mis, N, F, S" "2195,ENSG00000083857,FAT,FAT1,Q14517" FAT3 FAT atypical cadherin 3 120114 11:92837714-92891113 2 11q14.3 yes "SCC, colon adenocarcinoma, gastric adenocarcinoma" E Mis "120114,ENSG00000165323,FAT3,Q8TDW7" FAT4 FAT atypical cadherin 4 79633 4:125316412-125491768 1 Yes 4q28.1 yes "lymphoma, pancreatic, head and neck, melanoma, hepatocellular carcinoma" "E, L" TSG "Mis, N" yes "Hennekam lymphangiectasia-lymphedema syndrome 2, Van Maldergem syndrome 2" "79633,ENSG00000196159,FAT4" FBLN2 fibulin 2 2199 3:13618090-13637919 2 3p25.1 yes "breast cancer, colorectal adenocarcinoma" E TSG "Mis, S" "2199,ENSG00000163520,FBLN2,P98095" FBXO11 F-box protein 11 80204 2:47808118-47839749 1 2p16.3 yes DLBCL L Rec TSG "Mis, F, D" "80204,ENSG00000138081,FBXO11,Q86XK2" FBXW7 "F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)" 55294 4:152322881-152411803 1 Yes 4q31.3 yes "colorectal, endometrial, T-ALL" "E, L" Rec TSG "Mis, N, D, F" "55294,ENSG00000109670,FBXW7,Q969H0" FCGR2B "Fc fragment of IgG, low affinity IIb, receptor for (CD32)" 2213 1:161663242-161677553 1 Yes 1q23 yes ALL L Dom "oncogene, fusion" T ? "2213,ENSG00000072694,FCG2,FCGR2,FCGR2B,P31994" FCRL4 Fc receptor-like 4 83417 1:157575524-157597944 1 1q21 yes B-NHL L Dom "oncogene, fusion" T IGH "83417,ENSG00000163518,FCRL4,Q96PJ5" FEN1 flap structure-specific endonuclease 1 2237 11:61795362-61796504 2 11q12.2 yes breast cancer E TSG "2237,ENSG00000168496,FEN1,P39748,RAD2" FES "FES proto-oncogene, tyrosine kinase" 2242 15:90885046-90895558 1 15q26.1 yes "HNSCC, ovarian carcinoma" E "oncogene, TSG" "Mis, F" "2242,ENSG00000182511,FES,P07332" FEV FEV protein - (HSRNAFEV) 54738 2:218981667-218985075 1 2q36 yes Ewing sarcoma M Dom "oncogene, fusion" T "EWSR1, FUS" "54738,ENSG00000163497,FEV,Q99581" FGFR1 fibroblast growth factor receptor 1 2260 8:38413628-38457446 1 Yes 8p11.2-p11.1 yes "MPN, NHL, salivary adenoma" L Dom "oncogene, fusion" T "BCR, FOP, ZMYM2, CNTRL, PLAG1" yes "Pfeiffer syndrome, Kallman syndrome" "2260,ENSG00000077782,FGFR1,FLT2,KAL2,P11362" FGFR1OP FGFR1 oncogene partner (FOP) 11116 6:166999414-167039979 1 6q27 yes "MPN, NHL" L Dom fusion T FGFR1 "11116,ENSG00000213066,FGFR1OP,O95684" FGFR2 fibroblast growth factor receptor 2 2263 10:121479857-121593817 1 Yes 10q26 yes "gastric, NSCLC, endometrial" E Dom "oncogene, fusion" Mis yes "Crouzon, Pfeiffer, and Apert syndromes" "2263,BEK,CFD1,ENSG00000066468,FGFR2,JWS,KGFR,P21802" FGFR3 fibroblast growth factor receptor 3 2261 4:1793935-1807262 1 Yes 4p16.3 yes "bladder, MM, T-cell lymphoma" "L, E" Dom "oncogene, fusion" "Mis, T" "IGH, ETV6" yes "Hypochondroplasia, Thanatophoric dysplasia" "2261,ACH,ENSG00000068078,FGFR3,P22607" FGFR4 fibroblast growth factor receptor 4 2264 5:177089603-177097676 1 Yes 5q35.2 yes rhabdomyosarcoma M Dom oncogene Mis "2264,ENSG00000160867,FGFR4,P22455" FH fumarate hydratase 2271 1:241497828-241519722 1 1q42.1 yes "leiomyomatosis, renal" hereditary leiomyomatosis and renal cell cancer "E, M" Rec TSG "Mis, N, F" "2271,ENSG00000091483,FH,P07954" FHIT fragile histidine triad gene 2272 3:59752226-60536962 1 Yes 3p14.2 yes pleomorphic salivary gland adenoma E Dom "TSG, fusion" T HMGA2 "2272,ENSG00000189283,FHIT,P49789" FIP1L1 FIP1 like 1 (S. cerevisiae) 81608 4:53377840-53459450 1 Yes 4q12 yes idiopathic hypereosinophilic syndrome L Dom fusion T PDGFRA "81608,ENSG00000145216,FIP1L1,Q6UN15" FKBP9 FK506 binding protein 9 11328 7:32957574-33005351 2 7p14.3 yes glioma O Mis "11328,ENSG00000122642,FKBP9,O95302" FLCN folliculin 201163 17:17213655-17228137 1 17p11.2 yes "renal, fibrofolliculomas, trichodiscomas" Birt-Hogg-Dube syndrome "E, M" Rec TSG "Mis. N, F" "201163,ENSG00000154803,FLCN,Q8NFG4" FLI1 Friend leukemia virus integration 1 2313 11:128694259-128810988 1 11q24 yes Ewing sarcoma M Dom "oncogene, fusion" T EWSR1 "2313,ENSG00000151702,FLI1,Q01543" FLNA filamin A 2316 X:154348849-154371245 2 Xq28 yes phyllodes tumour of the breast E "Mis, F, O" "2316,ENSG00000196924,FLN,FLN1,FLNA,OPD1,OPD2,P21333" FLT3 fms-related tyrosine kinase 3 2322 13:28004052-28100510 1 Yes 13q12 yes "AML, ALL" L Dom oncogene "Mis, O" "2322,ENSG00000122025,FLT3,P36888" FLT4 fms-related tyrosine kinase 4 2324 5:180608281-180649545 1 Yes 5q35.3 yes soft tissue sarcoma M Dom oncogene A "2324,ENSG00000037280,FLT4,P35916" FNBP1 formin binding protein 1 (FBP17) 23048 9:129890539-130042975 2 9q23 yes AML L Dom fusion T KMT2A "23048,ENSG00000187239,FNBP1" FOXA1 forkhead box A1 3169 14:37591365-37594972 1 Yes 14q12-q13 yes "breast, prostate" E Dom oncogene "Mis, F" "3169,ENSG00000129514,FOXA1,HNF3A,P55317" FOXL2 forkhead box L2 668 3:138945592-138946722 1 3q23 yes granulosa-cell tumour of the ovary O Dom "oncogene, TSG" Mis yes "Blepharophimosis, ptosis and epicanthus inversus Types I, II; Premature ovarian failure type III" "668,BPES,ENSG00000183770,FOXL2,P58012" FOXO1 forkhead box O1 2308 13:40555680-40666212 1 13q14.1 yes alveolar rhabdomyosarcoma M Dom "oncogene, TSG, fusion" T "PAX3, PAX7" "2308,ENSG00000150907,FKHR,FOXO1,FOXO1A,Q12778" FOXO3 forkhead box O3 2309 6:108561209-108664855 1 6q21 yes AL L Dom "oncogene, TSG, fusion" T KMT2A "2309,ENSG00000118689,FKHRL1,FOXO3,FOXO3A,O43524" FOXO4 forkhead box O4 4303 X:71096529-71102084 1 Xq13.1 yes "AL, soft tissue sarcoma" "L, M" Dom "oncogene, TSG, fusion" T "KMT2A, CIC" "4303,ENSG00000184481,FOXO4,MLLT7,P98177" FOXP1 forkhead box P1 27086 3:70959247-71198381 1 3p14.1 yes ALL L Dom "oncogene, fusion" T PAX5 "27086,ENSG00000114861,FOXP1,Q9H334" FOXR1 forkhead box R1 283150 11:118971932-118981236 2 11q23.3 yes neuroblastoma O "oncogene, fusion" T "283150,ENSG00000176302,FOXR1,Q6PIV2" FSTL3 follistatin-like 3 (secreted glycoprotein) 10272 19:676425-681709 1 19p13 yes B-CLL L Dom "oncogene, fusion" T CCND1 "10272,ENSG00000070404,FSTL3,O95633" FUBP1 far upstream element (FUSE) binding protein 1 8880 1:77949146-77979004 1 Yes 1p13.1 yes oligodendroglioma O Rec oncogene "F, N" "8880,ENSG00000162613,FUBP,FUBP1,Q96AE4" FUS "fusion, derived from t(12;16) malignant liposarcoma" 2521 16:31180215-31191438 1 Yes 16p11.2 yes "liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma" "M, L" Dom "TSG, fusion" T "DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1, NFATC2" "2521,ALS6,ENSG00000089280,FUS,P35637" GAS7 growth arrest-specific 7 8522 17:9917228-10198390 1 Yes 17p yes AML* L Dom fusion T KMT2A "8522,ENSG00000007237,GAS7,O60861" GATA1 GATA binding protein 1 (globin transcription factor 1) 2623 X:48791110-48794164 1 Xp11.23 yes megakaryoblastic leukaemia of Downs syndrome L Dom "oncogene, TSG" "Mis, F" "2623,ENSG00000102145,GATA1,GF1,P15976" GATA2 GATA binding protein 2 2624 3:128481019-128487031 1 3q21.3 yes AML (CML blast transformation) L Dom oncogene Mis "2624,ENSG00000179348,GATA2,P23769" GATA3 GATA binding protein 3 2625 10:8055656-8074023 1 10p15 yes breast E Rec "oncogene, TSG" "F, N, S" yes "HDR syndrome (hypoparathyroidism, sensorineural deafness, and renal disease)" "2625,ENSG00000107485,GATA3,P23771" GLI1 GLI family zinc finger 1 2735 12:57463692-57472061 2 12q13.3 yes "CRC, oesophagus cancer" E "oncogene, fusion" "T, F" yes IBD "2735,ENSG00000111087,GLI,GLI1,P08151" GMPS guanine monphosphate synthetase 8833 3:155870871-155937692 2 3q24 yes AML L Dom fusion T KMT2A "8833,ENSG00000163655,GMPS,P49915" GNA11 "guanine nucleotide binding protein (G protein), alpha 11 (Gq class)" 2767 19:3094652-3121179 1 Yes 19p13.3 yes "uveal melanoma, primary central nervous system melanocytic neoplasms" "E, O" Dom oncogene Mis "2767,ENSG00000088256,GNA11,HHC2,P29992" GNAQ "guanine nucleotide binding protein (G protein), q polypeptide" 2776 9:77721323-78031235 1 Yes 9q21 yes "uveal melanoma, primary central nervous system melanocytic neoplasms" "E, O" Dom oncogene Mis "2776,ENSG00000156052,GNAQ,P50148" GNAS "guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1" 2778 20:58891727-58910829 1 Yes 20q13.2 yes "pituitary adenoma, pancreatic intraductal papillary mucinous neoplasm, fibrous dysplasia" "E, M" Dom oncogene Mis yes "McCune-Albright syndrome; pseudohypoparathyroidism, type IA" "2778,ENSG00000087460,GNAS,GNAS1,P63092" GOLGA5 "golgi autoantigen, golgin subfamily a, 5 (PTC5)" 9950 14:92797439-92839447 1 14q yes "papillary thyroid, Spitzoid tumour" E Dom fusion T RET "9950,ENSG00000066455,GOLGA5,Q8TBA6" GOPC golgi associated PDZ and coiled-coil motif containing 57120 6:117563254-117602288 1 6q21 yes "glioblastoma, cholangiocarcinoma, borderline ovarian" "E, O" Dom fusion T ROS1 "57120,ENSG00000047932,GOPC,Q9HD26" GPC3 glypican 3 2719 X:133536124-133985449 1 Yes Xq26.1 yes Wilms tumour Simpson-Golabi-Behmel syndrome O Rec/X "oncogene, TSG" "D, Mis, N, F, S" "2719,ENSG00000147257,GPC3,P51654,SDYS" GPC5 glypican 5 2262 13:91399047-92866439 2 13q31.3 yes lung adenocarcinoma E TSG D "2262,ENSG00000179399,GPC5,P78333" GPHN gephyrin (GPH) 10243 14:66508529-67180938 1 14q24 yes AL L Dom fusion T KMT2A "10243,ENSG00000171723,GPHN,Q9NQX3" GRIN2A "glutamate receptor, ionotropic, N-methyl D-aspartate 2A" 2903 16:9763149-10180411 1 16p13.2 yes "melanoma, colorectal carcinoma, gastric carcinoma, lung carcinoma" E Rec TSG "Mis, N, F, O" yes Focal epilepsy and speech disorder with or without mental retardation "2903,ENSG00000183454,GRIN2A,NMDAR2A,Q12879" GRM3 glutamate metabotropic receptor 3 2913 7:86765146-86864355 2 7q21.11-q21.12 yes "melanoma, oral SCC" E oncogene "Mis, A" "2913,ENSG00000198822,GRM3,Q14832" H3F3A "H3 histone, family 3A" 3020 1:226064352-226071479 1 Yes 1q42.12 yes glioma O Dom oncogene Mis "3020,ENSG00000163041,H3F3,H3F3A,P84243" H3F3B "H3 histone, family 3B (H3.3B)" 3021 17:75778595-75779174 1 17q25.1 yes chondroblastoma M Dom oncogene Mis "3020,ENSG00000132475,H3F3B,P84243" HERPUD1 "homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1" 9709 16:56932245-56943290 1 16q12.2-q13 yes prostate E Dom fusion T ERG "9709,ENSG00000051108,HERPUD1,Q15011" HEY1 hairy/enhancer-of-split related with YRPW motif 1 23462 8:79765188-79767663 1 Yes 8q21 yes mesenchymal chondrosarcoma M Dom "oncogene, fusion" T NCOA2 "23462,ENSG00000164683,HEY1,Q9Y5J3" HIF1A hypoxia inducible factor 1 alpha subunit 3091 14:61695805-61747085 1 Yes 14q23.2 yes "endometrioid carcinoma, glioblastoma, colorectal, renal, lung, pancreatic" "E, O" Dom oncogene "Mis, F, N" "3091,ENSG00000100644,HIF1A,Q16665" HIP1 huntingtin interacting protein 1 3092 7:75538172-75738920 1 Yes 7q11.23 yes "CMML, NSCLC" "L, E" Dom "oncogene, fusion" T "PDGFRB, ALK" "3092,ENSG00000127946,HIP1,O00291" HIST1H3B "histone cluster 1, H3b" 8358 6:26031650-26032060 1 6p22.1 yes glioma O Dom oncogene Mis "8350,ENSG00000124693,H3FL,HIST1H3B,P68431" HIST1H4I "histone 1, H4i (H4FM)" 8294 6:27107089-27107660 1 6p21.3 yes NHL L Dom fusion T BCL6 HLA-A "major histocompatibility complex, class I, A" 3105 6:29942554-29945455 1 6p21.3 yes Spitzoid tumour E Dom fusion T ROS1 yes Carbamazepine-induced hypersensitivity syndrome "3105,ENSG00000206503,HLA-A,P04439" HLF hepatic leukemia factor 3131 17:55265486-55320880 1 17q22 yes ALL L Dom "oncogene, fusion" T TCF3 "3131,ENSG00000108924,HLF,Q16534" HMGA1 high mobility group AT-hook 1 3159 6:34240781-34244884 1 6p21 yes "microfollicular thyroid adenoma, various benign mesenchymal tumours" "E, M" Dom "oncogene, fusion" T ? "3159,ENSG00000137309,HMGA1,HMGIY,P17096" HMGA2 high mobility group AT-hook 2 (HMGIC) 8091 12:65825271-65963292 1 12q15 yes "lipoma, leiomyoma, pleomorphic salivary gland adenoma" M Dom "oncogene, fusion" T "LHFP, RAD51B, LPP, COX6C, ACKR3, NFIB, ALDH2, CCNB1IP1, EBF1, WIF1, FHIT" "8091,ENSG00000149948,HMGA2,HMGIC,P52926" HMGN2P46 high mobility group nucleosomal binding domain 2 pseudogene 46 283651 15:- 2 15q21.1 yes prostate E Dom fusion T ETV1 HNF1A HNF1 homeobox A 6927 12:120978769-121001192 1 Yes 12q24.2 yes yes "hepatic adenoma, hepatocellular" "hepatic adenoma, hepatocellular carcinoma" familial hepatic adenoma E Rec TSG "Mis, F" yes "Maturity-onset diabetes of the young, TYPE III" "6927,ENSG00000135100,HNF1A,MODY3,TCF1" HNRNPA2B1 heterogeneous nuclear ribonucleoprotein A2/B1 3181 7:26190125-26200577 1 Yes 7p15 yes prostate E Dom "oncogene, fusion" T ETV1 "3181,ENSG00000122566,HNRNPA2B1,HNRPA2B1,P22626" HOOK3 hook homolog 3 84376 8:42897132-43018498 1 8p11.21 yes papillary thyroid E Dom fusion T RET "84376,ENSG00000168172,HOOK3,Q86VS8" HOXA11 homeo box A11 3207 7:27182796-27185144 1 Yes 7p15-p14.2 yes CML L Dom "oncogene, TSG, fusion" T NUP98 "3207,ENSG00000005073,HOX1,HOX1I,HOXA11,P31270" HOXA13 homeo box A13 3209 7:27198198-27200077 1 7p15-p14.2 yes AML L Dom "oncogene, fusion" T NUP98 "3209,ENSG00000106031,HOX1,HOX1J,HOXA13,P31271" HOXA9 homeo box A9 3205 7:27163603-27165457 1 7p15-p14.2 yes AML* L Dom "oncogene, TSG, fusion" T "NUP98, MSI2" "3205,ENSG00000078399,HOX1,HOX1G,HOXA9,P31269" HOXC11 homeo box C11 3227 12:53973243-53975414 1 12q13.3 yes AML L Dom "oncogene, fusion" T NUP98 "3227,ENSG00000123388,HOX3H,HOXC11,O43248" HOXC13 homeo box C13 3229 12:53938908-53945257 1 12q13.3 yes AML L Dom "oncogene, fusion" T NUP98 "3229,ENSG00000123364,HOX3,HOX3G,HOXC13,P31276" HOXD11 homeo box D11 3237 2:176107357-176109143 1 2q31-q32 yes AML L Dom "oncogene, fusion" T NUP98 "3237,ENSG00000128713,HOX4,HOX4F,HOXD11,P31277" HOXD13 homeo box D13 3239 2:176092916-176094731 1 2q31-q32 yes AML* L Dom "oncogene, fusion" T NUP98 "3239,HOX4I,HOXD13,P35453,SPD" HRAS v-Ha-ras Harvey rat sarcoma viral oncogene homolog 3265 11:532636-534322 1 Yes 11p15.5 yes yes "infrequent sarcomas, rare other tumour types" "rhabdomyosarcoma, ganglioneuroblastoma, bladder" Costello syndrome "E, L, M" Dom oncogene Mis "3265,ENSG00000174775,HRAS,HRAS1,P01112" HSP90AA1 "heat shock protein 90kDa alpha (cytosolic), class A member 1" 3320 14:102081712-102139404 1 14q32.33 yes NHL L Dom fusion T BCL6 "3320,ENSG00000080824,HSP90AA1,HSPC1,HSPCA,P07900" HSP90AB1 "heat shock protein 90kDa alpha (cytosolic), class B member 1" 3326 6:44248630-44253598 1 6p12 yes NHL L Dom fusion T BCL6 "3326,ENSG00000096384,HSP90AB1,HSPC2,HSPCB,P08238" ID3 "inhibitor of DNA binding 3, HLH protein" 3399 1:23558960-23559426 2 1p36.12 yes Burkitt lymphoma L TSG "Mis, N" "3399,ENSG00000117318,ID3,Q02535" IDH1 "isocitrate dehydrogenase 1 (NADP+), soluble" 3417 2:208237079-208251551 1 Yes 2q33.3 yes glioblastoma O Dom oncogene Mis "3417,ENSG00000138413,IDH1,O75874" IDH2 "isocitrate dehydrogenase 2 (NADP+), mitochondrial" 3418 15:90084266-90102390 1 Yes 15q26.1 yes glioblastoma O Dom oncogene Mis "3418,ENSG00000182054,IDH2,P48735" IGF2BP2 insulin like growth factor 2 mRNA binding protein 2 10644 3:185645531-185824960 2 3q27.2 yes lymphoma L TSG D yes "Diabetes mellitus, noninsulin-dependent, susceptibility" "10644,ENSG00000073792,IGF2BP2,Q9Y6M1" IGH immunoglobulin heavy locus 3492 14:- 1 Yes 14q32.33 yes "MM, Burkitt lymphoma, NHL, CLL, B-ALL, MALT, MLCLS" L Dom fusion T "MYC, FGFR3, PAX5, FCRL4, IRF4, CCND1, BCL9, BCL8, BCL6, BCL2, BCL3, BCL10, BCL11A. LHX4, DDX6, NFKB2, PAFAH1B2, PCSK7, CRLF2" IGK immunoglobulin kappa locus 50802 2:- 1 2p12 yes "Burkitt lymphoma, B-NHL" L Dom fusion T "MYC, KDSR" IGL immunoglobulin lambda locus 3535 22:- 1 22q11.2 yes Burkitt lymphoma L Dom fusion T "BCL9, MYC, CCND2" IKBKB "inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta" 3551 8:42272100-42330979 1 8p11.2 yes SMZL L Dom oncogene Mis yes Immunodeficiency 15 "3551,ENSG00000104365,IKBKB,O14920" IKZF1 IKAROS family zinc finger 1 10320 7:50319062-50400628 1 7p12.2 yes "ALL, DLBCL" L Dom/Rec "TSG, fusion" "D,T" BCL6 "10320,ENSG00000185811,IKZF1,Q13422,ZNFN1A1" IL2 interleukin 2 3558 4:122451752-122456440 1 4q26-q27 yes intestinal T-cell lymphoma L Dom fusion T TNFRSF17 "3558,ENSG00000109471,IL2,P60568" IL21R interleukin 21 receptor 50615 16:27430073-27449284 1 16p11 yes NHL L Dom fusion T BCL6 "50615,ENSG00000103522,IL21R,Q9HBE5" IL6ST "interleukin 6 signal transducer (gp130, oncostatin M receptor)" 3572 5:55941082-55976278 1 Yes 5q11 yes hepatocellular carcinoma E Dom oncogene O "3572,ENSG00000134352,IL6ST,P40189" IL7R interleukin 7 receptor 3575 5:35856978-35876486 1 5p13 yes "ALL, ETP ALL" L Dom oncogene "Mis, O" yes Severe combined immune deficiency "3575,ENSG00000168685,IL7R,P16871" IRF4 interferon regulatory factor 4 3662 6:393154-407599 1 6p25-p23 yes MM L Dom "oncogene, TSG, fusion" T IGH "3662,ENSG00000137265,IRF4,MUM1,Q15306" IRS4 insulin receptor substrate 4 8471 X:108732571-108736344 1 Xq22.3 yes "glioma, rhabdomyosarcoma, melanoma, breast cancer, T-ALL" "E, O, M, L" "oncogene, TSG" "Mis, F, T" TRB "8471,ENSG00000133124,IRS4,O14654" ISX intestine specific homeobox 91464 22:35067088-35085693 2 22q12.3 yes melanoma E Mis "91464,ENSG00000175329,ISX,Q2M1V0" ITGAV integrin subunit alpha V 3685 2:186590339-186677292 2 2q32.1 yes large intestine carcinoma E F "3685,ENSG00000138448,ITGAV,MSK8,P06756,VNRA,VTNR" ITK IL2-inducible T-cell kinase 3702 5:157180978-157252678 1 5q31-q32 yes peripheral T-cell lymphoma L Dom fusion T SYK "3702,ENSG00000113263,ITK,Q08881" JAK1 Janus kinase 1 3716 1:64834562-64886264 1 Yes 1p32.3-p31.3 yes ALL L Dom "oncogene, TSG" Mis "3716,ENSG00000162434,JAK1,JAK1B,P23458" JAK2 Janus kinase 2 3717 9:5021988-5126791 1 Yes 9p24 yes "ALL, AML, MPN, CML" L Dom "oncogene, fusion" "T, Mis, O" "ETV6, PCM1, BCR" "3717,ENSG00000096968,JAK2,O60674" JAK3 Janus kinase 3 3718 19:17826743-17844417 1 Yes 19p13.1 yes "acute megakaryocytic leukaemia, ETP ALL" L Dom oncogene Mis "3718,ENSG00000105639,JAK3,P52333" JAZF1 juxtaposed with another zinc finger gene 1 221895 7:27832800-28180577 2 7p15.2-p15.1 yes endometrial stromal tumour M Dom fusion T SUZ12 "221895,ENSG00000153814,JAZF1,Q86VZ6" JUN jun oncogene 3725 1:58782075-58783070 1 1p32-p31 yes sarcoma M Dom oncogene A "3725,ENSG00000177606,JUN,P05412" KAT6A K(lysine) acetyltransferase 6A 7994 8:- 1 8p11 yes AML L Dom "oncogene, fusion" "T, A" "CREBBP, NCOA2, EP300" KAT6B K(lysine) acetyltransferase 6B 23522 10:74842858-75031046 1 10q22.2 yes "AML, leiomyoma" "L, M" Dom "TSG, fusion" T "CREBBP, KANSL1" "Genitopatellar syndrome, Say-Barber-Biesecker/Young-Simpson syndrome" "23522,ENSG00000156650,KAT6B,MYST4,Q8WYB5" KAT7 lysine acetyltransferase 7 11143 17:49788835-49827502 2 17q21.33 yes CCRCC E oncogene Mis "11143,ENSG00000136504,KAT7,MYST2,O95251" KCNJ5 "potassium inwardly-rectifying channel; subfamily J; member 5" 3762 11:128911274-128916731 1 11q24 yes adrenal adenoma E Dom oncogene Mis yes "Familial hyperaldosteronism type III, Long QT syndrome" "3762,ENSG00000120457,KCNJ5,P48544" KDM5A "lysine (K)-specific demethylase 5A, JARID1A" 5927 12:285456-389091 1 12p11 yes AML L Dom "oncogene, fusion" T NUP98 "5927,ENSG00000073614,JARID1A,KDM5A,RBBP2" KDM5C lysine (K)-specific demethylase 5C (JARID1C) 8242 X:53192967-53224889 1 Xp11.22-p11.21 yes clear cell renal carcinoma E Rec TSG "N, F, S, Mis" yes X-linked mental retardation syndromic Claes-Jensen-type. "8242,ENSG00000126012,JARID1C,KDM5C,MRX13,P41229,SMCX" KDM6A "lysine (K)-specific demethylase 6A, UTX" 7403 X:44873552-45111411 1 Yes Xp11.2 yes "renal cell carcinoma, bladder carcinoma, oesophageal SCC, MM, medulloblastoma, T-ALL, other tumour types" "E, L" Rec "oncogene, TSG" "D, N, F, S" yes Kabuki syndrome "7403,ENSG00000147050,KDM6A,O15550,UTX" KDR vascular endothelial growth factor receptor 2 3791 4:55079941-55125293 1 Yes 4q11-q12 yes yes "NSCLC, angiosarcoma" melanoma E Dom oncogene Mis "3791,ENSG00000128052,KDR,P35968" KDSR 3-ketodihydrosphingosine reductase 2531 18:63331782-63367118 1 18q21.3 yes B-NHL L Dom fusion T IGK "2531,ENSG00000119537,FVT1,KDSR,Q06136" KEAP1 kelch like ECH associated protein 1 9817 19:10486652-10500033 1 Yes 19p13.2 yes "NSCLC, breast carcinoma" E TSG "Mis, N, F" "9817,ENSG00000079999,KEAP1,Q14145" KIAA1549 KIAA1549 57670 7:138837906-138919418 2 7q34 yes pilocytic astrocytoma O Dom fusion T BRAF "57670,ENSG00000122778,KIAA1549" KIAA1598 KIAA1598 57698 10:116886555-117005079 2 10q25.3 yes Spitzoid tumour E Dom fusion T ROS1 "57698,A0MZ66,ENSG00000187164,KIAA1598" KIF5B kinesin family member 5B 3799 10:32009010-32055973 1 10p11.22 yes "NSCLC, Spitzoid tumour" E Dom fusion T "RET, ALK" "3799,ENSG00000170759,KIF5B,KNS1,P33176" KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog 3815 4:54658015-54738557 1 Yes 4q12 yes yes "GIST, AML, TGCT, mastocytosis, mucosal melanoma" "GIST, epithelioma" familial gastrointestinal stromal tumour "L, M, O, E" Dom oncogene "Mis, O" yes Piebald trait "3815,ENSG00000157404,KIT,P10721,PBT" KLF4 Kruppel-like factor 4 9314 9:107485751-107489172 1 Yes 9q31 yes meningioma O Dom "oncogene, TSG" Mis "9314,ENSG00000136826,KLF4,O43474" KLF6 Kruppel-like factor 6 1316 10:3779539-3785014 1 10p15 yes "prostate, glioma" "E, O" Rec TSG "Mis, N" "1316,BCD1,COPEB,ENSG00000067082,KLF6,Q99612,ST12" KLK2 kallikrein-related peptidase 2 3817 19:50873474-50878559 1 19q13.41 yes prostate E Dom fusion T ETV4 "3817,ENSG00000167751,KLK2,P20151" KMT2A lysine (K)-specific methyltransferase 2A 4297 11:118436513-118522172 1 11q23 yes "AML, ALL" L Dom "oncogene, fusion" "T, O" "KMT2A, MLLT1, AFF1, MLLT3, MLLT4, FOXO4, MLLT10, MLLT6, ELL, EPS15, MLLT11, CREBBP, SH3GL1, FNBP1, SEPT5, SEPT9, GPHN, GMPS, ABI1, ARHGEF12, GAS7, FOXO3, AFF3, TET1, SEPT6, LPP, RUNX1T1, ARHGAP26, EP300, PICALM, CLP1, PRRC1, DAB2IP, MAPRE1, KIAA1524, SEPT2, SARNP, ZFYVE19, TOP3A, CASC5, EEFSEC, FRYL, SORBS2, ABI2, LASP1, CASP8AP2, AFF4, NRIP3, NCKIPSD, CBL, ACTN4, PDS5A, CT45A2, MYO1F, KIAA0284, BTBD18" "4297,ENSG00000118058,KMT2A,MLL,Q03164" KMT2C lysine (K)-specific methyltransferase 2C 58508 7:152136832-152435786 1 7q36.1 yes medulloblastoma O Rec TSG N "58508,ENSG00000055609,KMT2C,MLL3,Q8NEZ4" KMT2D lysine (K)-specific methyltransferase 2D 8085 12:49021780-49055324 1 12q13.12 yes "medulloblastoma, renal" "O, E" Rec "oncogene, TSG" "N, F, Mis" "8085,ENSG00000167548,KMT2D,MLL2,O14686,TNRC21" KNSTRN kinetochore localized astrin/SPAG5 binding protein 90417 15:40382836-40393597 2 15q15.1 yes SCC E oncogene Mis "90417,C15orf23,ENSG00000128944,KNSTRN,Q9Y448" KRAS v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog 3845 12:25209795-25245384 1 Yes 12p12.1 yes "pancreatic, colorectal, lung, thyroid, AML, other tumour types" "L, E, M, O" Dom oncogene Mis "3845,ENSG00000133703,KRAS,KRAS2,P01116" KTN1 kinectin 1 (kinesin receptor) 3895 14:55612050-55680691 1 14q22.1 yes papillary thyroid E Dom fusion T RET "3895,ENSG00000126777,KTN1,Q86UP2" LARP4B La ribonucleoprotein domain family member 4B 23185 10:812926-885721 2 10p15.3 yes "CRC, glioma" "E, O" TSG "F, D" "23185,ENSG00000107929,KIAA0217,LARP4B,LARP5,Q92615" LASP1 LIM and SH3 protein 1 3927 17:38870190-38918778 1 17q11-q21.3 yes AML L Dom fusion T KMT2A "3927,ENSG00000002834,LASP1,Q14847" LATS1 large tumor suppressor kinase 1 9113 6:- 1 Yes 6q25.1 yes skin basal cell carcinoma E TSG "Mis, N" LATS2 large tumor suppressor kinase 2 26524 13:20974870-21046026 1 Yes 13q12.11 yes malignant mesothelioma E TSG "D, F, N" "26524,ENSG00000150457,LATS2,Q9NRM7" LCK lymphocyte-specific protein tyrosine kinase 3932 1:32274330-32285716 1 Yes 1p35-p34.3 yes T-ALL L Dom "oncogene, fusion" T TRB "3932,ENSG00000182866,LCK,P06239" LCP1 lymphocyte cytosolic protein 1 (L-plastin) 3936 13:46127591-46159662 2 13q14.1-q14.3 yes NHL L Dom fusion T BCL6 "3936,ENSG00000136167,LCP1,P13796" LEF1 lymphoid enhancer binding factor 1 51176 4:108063629-108167767 1 Yes 4q25 yes "B-ALL, T-ALL, eyelid sebaceous carcinoma, AML, lymphomas" "L, E" "oncogene, TSG" "Mis, N" "51176,ENSG00000138795,LEF1,Q9UJU2" LEPROTL1 leptin receptor overlapping transcript like 1 23484 8:30095513-30105862 2 8p12 yes "lung cancer, colon cancer" E TSG D "23484,ENSG00000104660,LEPROTL1,O95214" LHFP lipoma HMGIC fusion partner 10186 13:39343936-39601216 2 13q12 yes lipoma M Dom fusion T HMGA2 "10186,ENSG00000183722,LHFP,Q9Y693" LIFR leukemia inhibitory factor receptor 3977 5:38481595-38530647 1 Yes 5p13-p12 yes salivary adenoma E Dom fusion T PLAG1 "3977,ENSG00000113594,LIFR,P42702" LMNA lamin A/C 4000 1:156114919-156139106 1 Yes 1q22 yes Spitzoid tumour E Dom fusion T NTRK1 yes "Muscular dystrophy, dilated cardiomyopathy, familial partial lipodystrophy, and others" "4000,CMD1A,ENSG00000160789,LGMD1B,LMN1,LMNA,LMNL1,P02545,PRO1" LMO1 LIM domain only 1 (rhombotin 1) (RBTN1) 4004 11:8224616-8268634 1 11p15 yes yes "T-ALL, neuroblastoma" neuroblastoma L Dom "oncogene, fusion" "T, A" TRD "4004,ENSG00000166407,LMO1,P25800,RBTN1" LMO2 LIM domain only 2 (rhombotin-like 1) (RBTN2) 4005 11:33859356-33869386 1 11p13 yes T-ALL L Dom "oncogene, fusion" T TRD "4005,ENSG00000135363,LMO2,P25791,RBTNL1" LPP LIM domain containing preferred translocation partner in lipoma 4026 3:188406122-188874480 1 3q28 yes "lipoma, leukaemia" "L, M" Dom "oncogene, fusion" T "HMGA2, KMT2A, C12orf9" "4026,ENSG00000145012,LPP,Q93052" LRIG3 leucine-rich repeats and immunoglobulin-like domains 3 121227 12:58872572-58920235 1 12q14.1 yes NSCLC E Dom "TSG, fusion" T ROS1 "121227,ENSG00000139263,LRIG3,Q6UXM1" LRP1B LDL receptor related protein 1B 53353 2:140233186-142130729 1 Yes 2q21.2 yes "CLL, ovarian cancer, oesophageal squamous cell carcinoma, urothelial cancer" "E, L" Rec TSG "D, Mis, N, F" "53353,ENSG00000168702,LRP1B,Q9NZR2" LSM14A "LSM14A, SCD6 homolog A (S. cerevisiae)" 26065 19:34172643-34227388 2 19q13.11 yes Spitzoid tumour E Dom fusion T BRAF "26065,C19orf13,ENSG00000257103,FAM61A,LSM14A,Q8ND56" LYL1 lymphoblastic leukemia derived sequence 1 4066 19:13099319-13101171 1 19p13.2-p13.1 yes T-ALL L Dom "oncogene, fusion" T TRB "4066,ENSG00000104903,LYL1,P12980" LZTR1 leucine-zipper-like transcription regulator 1 8216 22:20982372-20997348 1 Yes 22q11.21 yes yes glioblastoma "glioblastoma, schwannoma" Schwannomatosis-2 E Dom TSG "Mis, F, N" yes Noonan syndrome 10 "8216,ENSG00000099949,LZTR1,Q8N653" MACC1 MET transcriptional regulator MACC1 346389 7:20140946-20161862 2 7p21.1 yes "liver, CRC" E oncogene Mis "346389,ENSG00000183742,MACC1,Q6ZN28" MAF v-maf musculoaponeurotic fibrosarcoma oncogene homolog 4094 16:79594460-79599902 1 16q22-q23 yes MM L Dom "oncogene, fusion" T IGH "4094,ENSG00000178573,MAF,O75444" MAFB v-maf musculoaponeurotic fibrosarcoma oncogene homolog B (avian) 9935 20:40687879-40688850 1 20q11.2-q13.1 yes MM L Dom "oncogene, fusion" T IGH "9935,ENSG00000204103,KRML,MAFB,Q9Y5Q3" MALAT1 "metastasis associated lung adenocarcinoma transcript 1 ( lnc-RNA; non-protein coding)" 378938 11:65502644-65502817 2 11q31.1 yes "renal cell carcinoma (childhood epithelioid), lung" E Dom "oncogene, TSG, fusion" T TFEB "378938,MALAT1,PRO1073,Q9UHZ2" MALT1 mucosa associated lymphoid tissue lymphoma translocation gene 1 10892 18:58671645-58747843 1 18q21 yes MALT L Dom "oncogene, fusion" T BIRC3 "10892,ENSG00000172175,MALT1,MLT,Q9UDY8" MAML2 mastermind-like 2 (Drosophila) 84441 11:95978948-96341895 1 11q22-q23 yes salivary gland mucoepidermoid E Dom "oncogene, fusion" T "CRTC3, CRTC1" "84441,ENSG00000184384,MAML2,Q8IZL2" MAP2K1 mitogen-activated protein kinase kinase 1 5604 15:66387348-66490615 1 15q22.1-q22.33 yes "NSCLC, melanoma, colorectal" E Dom oncogene Mis yes Cardiofaciocutaneous syndrome "5604,ENSG00000169032,MAP2K1,PRKMK1,Q02750" MAP2K2 mitogen-activated protein kinase kinase 2 5605 19:4090598-4123875 1 19p13.3 yes "NSCLC, melanoma" E Dom oncogene Mis yes Cardiofaciocutaneous syndrome "5605,ENSG00000126934,MAP2K2,P36507,PRKMK2" MAP2K4 mitogen-activated protein kinase kinase 4 6416 17:12020887-12141260 1 17p11.2 yes "pancreatic, breast, colorectal" E Rec "oncogene, TSG" "D, Mis, N" "6416,ENSG00000065559,MAP2K4,P45985,SERK1" MAP3K1 "mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase" 4214 5:56152434-56189507 1 5q11.2 yes luminal A breast E Rec "oncogene, TSG" "N, F, Mis, O, S" yes "46,XY sex reversal 6" MAP3K13 mitogen-activated protein kinase kinase kinase 13 9175 3:185428582-185482456 1 3q27 yes breast E Rec "oncogene, TSG" F "9175,ENSG00000073803,MAP3K13,O43283" MAPK1 mitogen-activated protein kinase 1 5594 22:21769204-21867440 1 Yes 22q11.2 yes "CLL, ovarian mixed germ cell tumour, cervical carcinoma" "E, L" Dom oncogene Mis "5594,ENSG00000100030,MAPK1,P28482,PRKM1,PRKM2" MAX Myc associated factor X 4149 14:65076476-65102339 1 14q23 yes yes "pheochromocytoma, endometrioid carcinoma, colon carcinoma" pheochromocytoma "E, O" Rec TSG "Mis, N, F" "10344,4149,CCL26,ENSG00000006606,ENSG00000125952,MAX,P61244,Q9Y258,SCYA26" MB21D2 Mab-21 domain containing 2 151963 3:192798386-192917840 2 3q29 yes lung cancer E Mis "151963,C3orf59,ENSG00000180611,MB21D2,Q8IYB1" MDM2 Mdm2 p53 binding protein homolog 4193 12:68808478-68839849 1 12q15 yes "sarcoma, glioma, colorectal, other tumour types" "M, O, E, L" Dom oncogene A "4193,ENSG00000135679,MDM2,Q00987" MDM4 Mdm4 p53 binding protein homolog 4194 1:204525519-204549682 1 1q32 yes "glioblastoma, bladder, retinoblastoma" M Dom oncogene A "4194,ENSG00000198625,MDM4,O15151" MDS2 myelodysplastic syndrome 2 259283 1:23629556-23640550 2 1p36 yes MDS L Dom fusion T ETV6 "ENSG00000197880,MDS2,Q8NDY4" MECOM MDS1 and EVI1 complex locus 2122 3:169084909-169131477 1 3q26.2 yes "AML, CML, MDS" L Dom "oncogene, fusion" T "RUNX1, ETV6, PRDM16, RPN1" "2122,ENSG00000085276,EVI1,MDS1,MECOM,Q03112" MED12 mediator complex subunit 12 9968 X:71118755-71142218 1 Yes Xq13 yes "uterine leiomyoma, fibroadenoma, phyllodes tumour" "M, E" Dom TSG "Mis, S, O" yes Opitz-Kaveggia Syndrome "9968,ENSG00000184634,FGS1,MED12,Q93074,TNRC11" MEN1 multiple endocrine neoplasia type 1 gene 4221 11:64804334-64810109 1 Yes 11q13 yes yes "parathyroid tumours, pancreatic neuroendocrine tumour" "parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid" multiple endocrine neoplasia type 1 E Rec TSG "D, Mis, N, F, S" "4221,ENSG00000133895,MEN1,O00255" MET met proto-oncogene (hepatocyte growth factor receptor) 4233 7:116699085-116796124 1 7q31 yes "papillary renal, head-neck squamous cell" papillary renal familial papillary renal cancer E Dom oncogene Mis "4233,ENSG00000105976,MET,P08581" MGMT O-6-methylguanine-DNA methyltransferase 4255 10:129536253-129766997 2 10q26.3 yes glioma O TSG D "4255,ENSG00000170430,MGMT,P16455" MITF melanogenesis-associated transcription factor 4286 3:69936723-69965248 1 3p14.1 yes melanoma E Dom oncogene A yes "Waardenburg syndrome type 2, Tietz syndrome" "4286,ENSG00000187098,MITF,O75030,WS2,WS2A" MKL1 megakaryoblastic leukemia (translocation) 1 57591 22:40411390-40463227 1 22q13 yes acute megakaryocytic leukaemia L Dom "oncogene, TSG, fusion" T RBM15 "57591,ENSG00000196588,MKL1,Q969V6" MLF1 myeloid leukemia factor 1 4291 3:158571302-158605203 1 3q25.1 yes AML L Dom "TSG, fusion" T NPM1 "4291,ENSG00000178053,MLF1,P58340" MLH1 E.coli MutL homolog gene 4292 3:36993548-37050653 1 3p21.3 yes yes "colorectal, endometrial, ovarian, CNS tumours" "colorectal, endometrial, ovarian, CNS" "hereditary non-polyposis colorectal cancer, Turcot syndrome" "E, O" Rec TSG "D, Mis, N, F, S" "4292,COCA2,ENSG00000076242,MLH1,P40692" MLLT1 "myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1 (ENL)" 4298 19:6213042-6279784 1 19p13.3 yes AL L Dom fusion T KMT2A "4298,ENSG00000130382,MLLT1,Q03111" MLLT10 "myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 (AF10)" 8028 10:21534646-21740235 1 Yes 10p12 yes AL L Dom "oncogene, fusion" T "KMT2A, PICALM, CDK6" "8028,ENSG00000078403,MLLT10,P55197" MLLT11 "myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 11" 10962 1:151039702-151040970 1 1q21 yes ALL L Dom fusion T KMT2A "10962,ENSG00000213190,MLLT11,Q13015" MLLT3 "myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)" 4300 9:20346443-20622256 1 9p22 yes ALL L Dom fusion T KMT2A "4300,ENSG00000171843,MLLT3,P42568" MLLT4 "myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)" 4301 6:167827134-167952263 1 6q27 yes AL L Dom "oncogene, fusion" T KMT2A MLLT6 "myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6 (AF17)" 4302 17:36861887-36881852 1 17q21 yes AL L Dom fusion T KMT2A "4302,ENSG00000108292,MLLT6,P55198" MN1 "MN1 proto-oncogene, transcriptional regulator" 4330 22:27750915-27800543 1 22q12.1 yes "AML, MDS" L Dom "oncogene, fusion" T ETV6 "4330,ENSG00000169184,MGCR,MN1,Q10571" MNX1 motor neuron and pancreas homeobox 1 3110 7:157005520-157010350 2 7q36 yes AML L Dom fusion T ETV6 yes Currarino syndrome "3110,ENSG00000130675,HLXB9,MNX1,P50219" MPL "myeloproliferative leukaemia virus oncogene, thrombopoietin receptor" 4352 1:43337849-43352772 1 1p34 yes yes MPN MPN familial essential thrombocythemia L Dom oncogene Mis yes Congenital amegakaryocytic thrombocytopenia "4352,ENSG00000117400,MPL,P40238" MSH2 mutS homolog 2 (E. coli) 4436 2:47403192-47482949 1 2p22-p21 yes yes "colorectal, endometrial, ovarian" "colorectal, endometrial, ovarian" hereditary non-polyposis colorectal cancer E Rec TSG "D, Mis, N, F, S" "4436,COCA1,ENSG00000095002,MSH2,P43246" MSH6 mutS homolog 6 (E. coli) 2956 2:47783234-47806860 1 2p16 yes yes colorectal "colorectal, endometrial, ovarian" hereditary non-polyposis colorectal cancer E Rec TSG "Mis, N, F, S" "2956,ENSG00000116062,GTBP,MSH6,P52701" MSI2 musashi homolog 2 (Drosophila) 124540 17:57257049-57631832 1 17q23.2 yes CML L Dom "oncogene, fusion" T HOXA9 "124540,ENSG00000153944,MSI2,Q96DH6" MSN moesin 4478 X:65667842-65739893 1 Xq11.2-q12 yes ALCL L Dom fusion T ALK "4478,ENSG00000147065,MSN,P26038" MTCP1 mature T-cell proliferation 1 4515 X:155061843-155064023 1 Xq28 yes T cell prolymphocytic leukaemia L Dom "oncogene, fusion" T TRA "100272147,CMC4,ENSG00000182712,MTCP1,MTCP1NB,P56277" MTOR mechanistic target of rapamycin 2475 1:11107485-11259409 1 Yes 1p36 yes "endometrial carcinoma, head and neck, clear cell renal cell carcinoma, anaplastic thyroid cancer, urothelial cell carcinoma, central nervous system tumours, testicular germ cell tumours and other tumour types" E Dom oncogene "Mis, N" yes "Smith-Kingsmore syndrome, brain overgrowth phenotypes such as focal cortical dysplasia and megalencephaly," "2475,ENSG00000198793,FRAP,FRAP1,FRAP2,MTOR,P42345" MUC1 "mucin 1, transmembrane" 4582 1:155186135-155192843 1 1q21 yes B-NHL L Dom fusion T IGH "4582,ENSG00000185499,MCKD1,MUC1,P15941,PUM" MUC16 "mucin 16, cell surface associated" 94025 19:8949776-8981138 2 19p13.2 yes "HNSCC, melanoma" E oncogene Mis "94025,ENSG00000181143,MUC16" MUC4 "mucin 4, cell surface associated" 4585 3:195747176-195811817 2 3q29 yes HNSCC E oncogene "Mis, O" "4585,ENSG00000145113,MUC4,Q99102" MUTYH mutY homolog (E. coli) 4595 1:45329306-45340254 1 1p34.3-1p32.1 yes colorectal adenomatous polyposis coli E Rec TSG Mis "4595,ENSG00000132781,MUTYH,Q9UIF7" MYB v-myb myeloblastosis viral oncogene homolog 4602 6:135181514-135217980 1 6q22-23 yes adenoid cystic carcinoma E Dom "oncogene, fusion" T NFIB "4602,ENSG00000118513,MYB,P10242" MYC v-myc myelocytomatosis viral oncogene homolog (avian) 4609 8:127738263-127740958 1 Yes 8q24.12-q24.13 yes "Burkitt lymphoma, amplified in other cancers, B-CLL" "L, E" Dom "oncogene, fusion" "A, T" "IGK, BCL5, BCL7A , BTG1, TRA, IGH" "4609,ENSG00000136997,MYC,P01106" MYCL v-myc avian myelocytomatosis viral oncogene lung carcinoma derived homolog 4610 1:39900814-39901434 1 1p34.2 yes small cell lung carcinoma E Dom oncogene A "4610,ENSG00000116990,MYCL,MYCL1,P12524" MYCN "v-myc myelocytomatosis viral related oncogene, neuroblastoma derived (avian)" 4613 2:15942065-15946097 1 2p24.1 yes "neuroblastoma, Wilms tumour" O Dom oncogene "A, Mis" yes Feingold syndrome 1 "4613,ENSG00000134323,MYCN,NMYC,P04198" MYD88 myeloid differentiation primary response gene (88) 4615 3:38138662-38141286 1 Yes 3p22 yes ABC-DLBCL L Dom oncogene Mis "4615,ENSG00000172936,MYD88" MYH11 "myosin, heavy polypeptide 11, smooth muscle" 4629 16:15708811-15838252 1 16p13.13-p13.12 yes AML L Dom fusion T CBFB "4629,ENSG00000133392,MYH11" MYH9 "myosin, heavy polypeptide 9, non-muscle" 4627 22:36282668-36349236 1 22q13.1 yes ALCL L Dom "TSG, fusion" T ALK yes "Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome" "4627,DFNA17,ENSG00000100345,MYH9,P35579" MYO5A "myosin VA (heavy chain 12, myoxin)" 4644 15:52313696-52528806 1 15q21 yes Spitzoid tumour E Dom fusion T ROS1 yes Griscelli syndrome "4644,ENSG00000197535,MYH12,MYO5A,Q9Y4I1" MYOD1 myogenic differentiation 1 4654 11:17719783-17721508 1 11p15.4 yes embryonal rhabdomyosarcoma M Dom oncogene Mis "4654,ENSG00000129152,MYF3,MYOD1,P15172" N4BP2 NEDD4 binding protein 2 55728 4:40097341-40154237 2 4p14 yes lung cancer E TSG D "55728,ENSG00000078177,N4BP2,Q86UW6" NAB2 NGFI-A binding protein 2 4665 12:57089272-57094721 1 Yes 12q13.3 yes "solitary fibrous tumour, meningeal haemangiopericytoma" "M, O" Dom "TSG, fusion" T STAT6 "4665,ENSG00000166886,NAB2,Q15742" NACA nascent-polypeptide-associated complex alpha polypeptide 4666 12:56712538-56724521 2 12q23-q24.1 yes NHL L Dom fusion T BCL6 "4666,ENSG00000196531,NACA,Q13765" NBEA neurobeachin 26960 13:34942821-35670991 2 13q13.3 yes "large intestine carcinoma, multiple myeloma" "E, L" "F, T" PVT1 "26960,ENSG00000172915,NBEA" NBN nibrin 4683 8:89935582-89984561 1 8q21 yes "NHL, glioma, medulloblastoma, rhabdomyosarcoma" Nijmegen breakage syndrome "L, E, M, O" Rec TSG "Mis, N, F" "4683,ENSG00000104320,NBN,NBS,NBS1,O60934" NCKIPSD NCK interacting protein with SH3 domain 51517 3:48674544-48685807 2 3p21 yes ALL L Dom fusion T KMT2A "51517,ENSG00000213672,NCKIPSD,Q9NZQ3" NCOA1 nuclear receptor coactivator 1 8648 2:24658678-24768391 1 2p23 yes alveolar rhabdomyosarcoma M Dom fusion T PAX3 "8648,ENSG00000084676,NCOA1,Q15788" NCOA2 nuclear receptor coactivator 2 (TIF2) 10499 8:70113632-70216745 1 8q13.1 yes "AML, chondrosarcoma, rhabdomyosarcoma" "L, M" Dom "oncogene, fusion" T "KAT6A, HEY1, NCOA2" "10499,ENSG00000140396,NCOA2,Q15596" NCOA4 nuclear receptor coactivator 4 - PTC3 (ELE1) 8031 10:51579142-51586417 1 10q11.2 yes papillary thyroid E Dom "TSG, fusion" T RET NCOR1 nuclear receptor corepressor 1 9611 17:16032296-16194569 1 17p11.2 yes breast E Rec TSG "Mis, F, N, O" yes Ulnar-mammary syndrome "9611,ENSG00000141027,NCOR1,O75376" NCOR2 nuclear receptor corepressor 2 9612 12:124325402-124495251 1 Yes 12q24 yes prostate E Dom TSG "Mis, F, N, O" "9612,ENSG00000196498,NCOR2,Q9Y618" NDRG1 N-myc downstream regulated 1 10397 8:133238878-133284311 1 Yes 8q24.3 yes prostate E Dom "TSG, fusion" T ERG "10397,CAP43,ENSG00000104419,NDRG1,Q92597" NF1 neurofibromatosis type 1 gene 4763 17:31095310-31374155 1 Yes 17q12 yes yes "neurofibroma, glioma" "neurofibroma, glioma" neurofibromatosis type 1 O Rec "TSG, fusion" "D, Mis, N, F, S, O" "4763,ENSG00000196712,NF1,P21359" NF2 neurofibromatosis type 2 gene 4771 22:29603999-29694802 1 Yes 22q12.2 yes yes "meningioma, acoustic neuroma, renal" "meningioma, acoustic neuroma" neurofibromatosis type 2 O Rec TSG "D, Mis, N, F, S, O" "4771,ENSG00000186575,NF2,P35240" NFATC2 "nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2" 4773 20:51391396-51542499 1 20q13.2 yes Ewing sarcoma M Dom "oncogene, fusion" T EWSR1 "4773,ENSG00000101096,NFATC2,Q13469" NFE2L2 nuclear factor (erythroid-derived 2)-like 2 (NRF2) 4780 2:177230785-177264576 1 Yes 2q31 yes "NSCLC, HNSCC" E Dom "oncogene, TSG" Mis "4780,ENSG00000116044,NFE2L2,Q16236" NFIB nuclear factor I/B 4781 9:14088309-14313511 1 9p24.1 yes "adenoid cystic carcinoma, lipoma" E Dom fusion T "MYB, HGMA2" "4781,ENSG00000147862,NFIB,O00712" NFKB2 nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100) 4791 10:102395960-102402376 1 10q24 yes B-NHL L Dom "oncogene, TSG, fusion" T IGH NFKBIE "nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, epsilon" 4794 6:44259219-44265763 1 6p21.1 yes "CLL, desmoplastic melanoma" "L, E" Dom/Rec TSG "F, Mis" "4794,ENSG00000146232,NFKBIE,O00221" NIN ninein (GSK3B interacting protein) 51199 14:50725872-50822056 1 14q24 yes MPN L Dom fusion T PDGFRB "51199,ENSG00000100503,NIN,Q8N4C6" NKX2-1 NK2 homeobox 1 7080 14:36517278-36519357 1 14q13 yes NSCLC E Dom "oncogene, TSG" A "7080,BCH,ENSG00000136352,NKX2-1,NKX2A,P43699,TITF1" NONO "non-POU domain containing, octamer-binding" 4841 X:71290638-71300076 1 Yes Xq13.1 yes papillary renal E Dom fusion T TFE3 "4841,ENSG00000147140,NONO,Q15233" NOTCH1 "Notch homolog 1, translocation-associated (Drosophila) (TAN1)" 4851 9:136496071-136545786 1 Yes 9q34.3 yes "T-ALL, breast, bladder, skin SCC, lung SCC, head and neck SCC" "L, E" Dom/Rec "oncogene, TSG, fusion" "T, Mis, O" "TRB, SEC16A, GABBR2" "4851,ENSG00000148400,NOTCH1,P46531,TAN1" NOTCH2 Notch homolog 2 4853 1:119915306-120069406 1 Yes 1p13-p11 yes "marginal zone lymphoma, DLBCL, bladder" "L, E" Dom/Rec "oncogene, TSG" "N, F, Mis" yes "Hajdu-Cheney syndrome, serpentine fibula-polycystic kidney syndrome" "4853,ENSG00000134250,NOTCH2,Q04721" NPM1 "nucleophosmin (nucleolar phosphoprotein B23, numatrin)" 4869 5:171387949-171410565 1 5q35 yes "NHL, APL, AML" L Dom "oncogene, fusion" "T, F" "ALK, RARA, MLF1" "4869,ENSG00000181163,NPM1,P06748" NR4A3 "nuclear receptor subfamily 4, group A, member 3 (NOR1)" 8013 9:99828041-99863867 1 9q22 yes extraskeletal myxoid chondrosarcoma M Dom "oncogene, fusion" T "EWSR1, TAF15, TCF12, TFG" "8013,ENSG00000119508,NR4A3,Q92570" NRAS neuroblastoma RAS viral (v-ras) oncogene homolog 4893 1:114708535-114716160 1 Yes 1p13.2 yes "melanoma, MM, AML, thyroid" "L, E" Dom oncogene Mis "4893,ENSG00000213281,NRAS,P01111" NRG1 neuregulin 1 3084 8:32548727-32764402 1 8p12 yes NSCLC E Dom "TSG, fusion" T CD74 "3084,ENSG00000157168,HGL,NRG1,NRG1-IT2,Q02297" NSD1 nuclear receptor binding SET domain protein 1 64324 5:177135104-177295459 1 5q35 yes AML L Dom fusion T NUP98 yes Sotos Syndrome "64324,ENSG00000165671,NSD1,Q96L73,STO" NT5C2 "5'-nucleotidase, cytosolic II" 22978 10:103089672-103174958 1 10q24.32 yes relapse ALL L Dom oncogene Mis yes Spastic paraplegia-45 "22978,ENSG00000076685,NT5B,NT5C2,P49902" NTHL1 nth like DNA glycosylase 1 4913 16:2093568-2097848 2 16p13.3 yes CRC Familial adenomatous polyposis E TSG "N, S" NTRK1 "neurotrophic tyrosine kinase, receptor, type 1" 4914 1:156860935-156881642 1 1q21-q22 yes "papillary thyroid, Spitzoid tumour" E Dom "oncogene, TSG, fusion" "T, A" "TPM3, TPR, TFG, TP53, LMNA" "4914,ENSG00000198400,NTRK1,P04629" NTRK3 "neurotrophic tyrosine kinase, receptor, type 3" 4916 15:87876935-88256153 1 15q25 yes "congenital fibrosarcoma, secretory breast" "E, M" Dom "oncogene, fusion" T ETV6 "4916,ENSG00000140538,NTRK3,Q16288" NUMA1 nuclear mitotic apparatus protein 1 4926 11:72003527-72035943 1 11q13 yes APL L Dom fusion T RARA "4926,ENSG00000137497,NUMA1,Q14980" NUP214 nucleoporin 214kDa (CAN) 8021 9:131125705-131233487 1 9q34.1 yes "AML, T-ALL" L Dom fusion T "DEK, SET, ABL1" "8021,ENSG00000126883,NUP214,P35658" NUP98 nucleoporin 98kDa 4928 11:3676159-3782117 1 11p15 yes AML L Dom "oncogene, fusion" T "HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PRRX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11" "4928,ENSG00000110713,NUP98,P52948" NUTM1 "NUT midline carcinoma, family member 1" 256646 15:34346021-34357492 1 15q14 yes lethal midline carcinoma E Dom "oncogene, fusion" T "BRD3, BRD4" "256646,C15orf55,ENSG00000184507,NUTM1,Q86Y26" NUTM2A NUT family member 2A 728118 10:87358266-87367372 1 10q23.2 yes endometrial stromal sarcoma M Dom fusion T YWHAE "ENSG00000214562,FAM22D,NUTM2D,Q5VT03" NUTM2B NUT family member 2B 729262 10:79703610-79712485 1 10q22.3 yes endometrial stromal sarcoma M Dom fusion T YWHAE "729262,A6NNL0,ENSG00000188199,FAM22B,NUTM2B" OLIG2 oligodendrocyte lineage transcription factor 2 (BHLHB1) 10215 21:33026863-33027834 1 21q22.11 yes T-ALL L Dom "oncogene, fusion" T TRA "10215,BHLHB1,ENSG00000205927,OLIG2,PRKCBP2,Q13516" OMD osteomodulin 4958 9:92415152-92417558 2 9q22.31 yes aneurysmal bone cyst M Dom fusion T USP6 "4958,ENSG00000127083,OMD,Q99983" P2RY8 "purinergic receptor P2Y, G-protein coupled, 8" 286530 "X,Y:1465479-1466558" 1 "Xp22.3; Yp11.3" yes "B-ALL, Down syndrome associated ALL" L Dom "oncogene, fusion" T CRLF2 "286530,ENSG00000182162,P2RY8,Q86VZ1" PABPC1 poly(A) binding protein cytoplasmic 1 26986 8:100704298-100721583 2 8q22.3 yes "HNSCC, biliary tract carcinoma" E "oncogene, TSG" "Mis, F" "26986,ENSG00000070756,P11940,PAB1,PABPC1,PABPC2" PAFAH1B2 "platelet-activating factor acetylhydrolase, isoform Ib, beta subunit 30kDa" 5049 11:117152449-117167700 1 Yes 11q23 yes MLCLS L Dom fusion T IGH "5049,ENSG00000168092,P68402,PAFAH1B2" PALB2 partner and localizer of BRCA2 79728 16:23603459-23641157 1 16p12.1 yes "Wilms tumour, medulloblastoma, AML ,breast" "Fanconi anaemia N, breast cancer susceptibility" "L, O, E" Rec TSG "F, N, Mis" "79728,ENSG00000083093,PALB2,Q86YC2" PAX3 paired box gene 3 5077 2:222201174-222298615 1 Yes 2q35 yes alveolar rhabdomyosarcoma M Dom "oncogene, fusion" T "FOXO1, NCOA1, NCOA2" yes "Waardenburg syndrome; craniofacial-deafness-hand syndrome" "5077,ENSG00000135903,P23760,PAX3,WS1" PAX5 paired box gene 5 (B-cell lineage specific activator protein) 5079 9:36840560-37034031 1 Yes 9p13 yes "NHL, ALL, B-ALL" L Dom "oncogene, TSG, fusion" "T, Mis, D, F, S" "IGH, ETV6, PML, FOXP1, ZNF521, ELN" "5079,ENSG00000196092,PAX5,Q02548" PAX7 paired box gene 7 5081 1:18631604-18736039 1 Yes 1p36.2-p36.12 yes alveolar rhabdomyosarcoma M Dom fusion T FOXO1 "5081,ENSG00000009709,P23759,PAX7" PAX8 paired box gene 8 7849 2:113218533-113278394 1 Yes 2q12-q14 yes follicular thyroid E Dom fusion T PPARG yes Thyroid dysgenesis "7849,ENSG00000125618,PAX8,Q06710" PBRM1 polybromo 1 55193 3:52548063-52679711 1 3p21 yes "clear cell renal carcinoma, breast" E Rec TSG "Mis, N, F, S, D, O" "55193,ENSG00000163939,PBRM1,Q86U86" PBX1 pre-B-cell leukemia transcription factor 1 5087 1:164559824-164846677 1 Yes 1q23 yes "pre B-ALL, myoepithelioma" "L, M" Dom "oncogene, fusion" T "TCF3, EWSR1" "5087,ENSG00000185630,P40424,PBX1" PCBP1 poly(rC) binding protein 1 5093 2:70087744-70088814 2 2p13.3 yes CRC E Mis "5093,ENSG00000169564,PCBP1,Q15365" PCM1 pericentriolar material 1 (PTC4) 5108 8:17935611-18027662 1 8p22-p21.3 yes "papillary thyroid, CML, MPN" "E, L" Dom fusion T "RET, JAK2" "5108,ENSG00000078674,PCM1,Q15154" PDCD1LG2 programmed cell death 1 ligand 2 80380 9:5522547-5569959 1 Yes 9p24.2 yes "PMBL, Hodgkin lymphoma" L Dom "oncogene, fusion" T CIITA "80380,ENSG00000197646,PDCD1LG2,Q9BQ51" PDE4DIP phosphodiesterase 4D interacting protein (myomegalin) 9659 1:148889754-149031985 1 1q12 yes MPN L Dom fusion T PDGFRB "9659,CMYA2,ENSG00000178104,PDE4DIP,Q5VU43" PDGFB platelet-derived growth factor beta polypeptide (simian sarcoma viral (v-sis) oncogene homolog) 5155 22:39225723-39243963 1 22q12.3-q13.1 yes DFSP M Dom "oncogene, fusion" T COL1A1 "5155,ENSG00000100311,P01127,PDGFB,SIS" PDGFRA "platelet-derived growth factor, alpha-receptor" 5156 4:54258769-54295272 1 4q11-q13 yes yes "GIST, idiopathic hypereosinophilic syndrome, paediatric glioblastoma" GIST familial gastrointestinal stromal tumour "L, M, O" Dom "oncogene, fusion" "Mis, O, T" FIP1L1 "5156,ENSG00000134853,P16234,PDGFRA" PDGFRB "platelet-derived growth factor receptor, beta polypeptide" 5159 5:150115763-150137047 1 5q31-q32 yes "MPN, AML, CMML, CML" L Dom "oncogene, fusion" T "ETV6, TRIP11, HIP1, RABEP1, H4, NIN, SPECC1, PDE4DIP" "5159,ENSG00000113721,P09619,PDGFR,PDGFRB" PER1 period homolog 1 (Drosophila) 5187 17:8141068-8150706 1 Yes 17p13.1-17p12 yes "AML, CMML" L Dom "TSG, fusion" T ETV6 "5187,ENSG00000179094,O15534,PER,PER1" PHF6 PHD finger protein 6 84295 X:134377618-134425330 1 Xq26.3 yes ETP ALL L Rec TSG "F, N, S, Mis" yes Boerjeson-Forssman-Lehmann syndrome "84295,BFLS,BORJ,ENSG00000156531,PHF6,Q8IWS0" PHOX2B paired-like homeobox 2b 8929 4:41745807-41748610 1 Yes 4p12 yes yes neuroblastoma neuroblastoma familial neuroblastoma O Rec TSG "Mis, F" yes Congenital central hypoventilation syndrome "8929,ENSG00000109132,PHOX2B,PMX2B,Q99453" PICALM phosphatidylinositol binding clathrin assembly protein (CALM) 8301 11:85959046-86068780 1 Yes 11q14 yes "T-ALL, AML" L Dom fusion T "MLLT10, KMT2A" "8301,ENSG00000073921,PICALM,Q13492" PIK3CA "phosphoinositide-3-kinase, catalytic, alpha polypeptide" 5290 3:179198826-179234364 1 Yes 3q26.3 yes "colorectal, gastric, glioblastoma, breast" "E, O" Dom oncogene Mis "5290,ENSG00000121879,P42336,PIK3CA" PIK3CB "phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta" 5291 3:138655389-138759343 1 Yes 3q22.3 yes "SCC, NSCLC" E oncogene Mis "5291,ENSG00000051382,P42338,PIK3C1,PIK3CB" PIK3R1 "phosphoinositide-3-kinase, regulatory subunit 1 (alpha)" 5295 5:68226676-68297601 1 Yes 5q13.1 yes "glioblastoma, ovarian, colorectal" "E, O" Rec TSG "Mis, F, O" "5295,ENSG00000145675,P27986,PIK3R1" PIM1 pim-1 oncogene 5292 6:37170576-37174091 1 Yes 6p21.2 yes NHL L Dom "oncogene, fusion" "T, Mis" BCL6 "5292,ENSG00000137193,P11309,PIM,PIM1" PLAG1 pleiomorphic adenoma gene 1 5324 8:56166243-56168269 1 8q12 yes "salivary adenoma, lipoblastoma" E Dom "oncogene, fusion" T "TCEA1, LIFR, CTNNB1, CHCHD7, COL1A2, HAS2" "5324,ENSG00000181690,PLAG1,Q6DJT9" PLCG1 "phospholipase C, gamma 1" 5335 20:41137642-41174509 1 20q12-q13.1 yes angiosarcoma E Dom "oncogene, fusion" Mis "5335,ENSG00000124181,P19174,PLC1,PLCG1" PML promyelocytic leukemia 5371 15:73994813-74045008 1 15q22 yes "APL, ALL" L Dom "TSG, fusion" T "RARA, PAX5" "5371,ENSG00000140464,P29590,PML" PMS1 PMS1 postmeiotic segregation increased 1 (S. cerevisiae) 5378 2:189791810-189877436 2 2q31-q33 yes "colorectal, endometrial, ovarian" hereditary non-polyposis colorectal cancer E Rec "Mis, N" "5378,ENSG00000064933,P54277,PMS1,PMSL1" PMS2 PMS2 postmeiotic segregation increased 2 (S. cerevisiae) 5395 7:5973399-6009019 1 Yes 7p22 yes "colorectal, endometrial, ovarian, medulloblastoma, glioma" "hereditary non-polyposis colorectal cancer, Turcot syndrome" E Rec TSG "Mis, N, F" "5395,ENSG00000122512,P54278,PMS2,PMSL2" POLD1 "DNA polymerase delta 1, catalytic subunit" 5424 19:50398852-50417947 1 19q13.3 yes yes CRC CRC Lynch syndrome E TSG Mis "5424,ENSG00000062822,P28340,POLD,POLD1" POLE "polymerase (DNA directed), epsilon, catalytic subunit" 5426 12:132624697-132687315 1 12q24.3 yes yes "colorectal carcinoma, endometrioid carcinoma, stomach carcinoma, skin cancer" colorectal cancer susceptibility E Rec TSG Mis yes FILS syndrome "5426,ENSG00000177084,POLE,Q07864" POLG "DNA polymerase gamma, catalytic subunit" 5428 15:89316751-89333754 2 15q26.1 yes CRC E TSG "N, O" yes mitochondrial DNA depletion syndrome "5428,ENSG00000140521,P54098,POLG" POLQ DNA polymerase theta 10721 3:121432304-121546641 1 3q13.33 yes yes oral SCC breast cancer E "oncogene, TSG" Mis "10721,ENSG00000051341,POLQ" POT1 protection of telomeres 1 25913 7:124823962-124897173 1 7q31.33 yes CLL L Dom TSG "Mis, N" "25913,ENSG00000128513,POT1,Q9NUX5" POU2AF1 "POU domain, class 2, associating factor 1 (OBF1)" 5450 11:111354261-111379177 1 Yes 11q23.1 yes NHL L Dom "oncogene, fusion" T BCL6 "5450,ENSG00000110777,POU2AF1,Q16633" POU5F1 "POU domain, class 5, transcription factor 1" 5460 6:31164601-31170620 1 Yes 6p21.31 yes sarcoma M Dom "oncogene, fusion" T EWSR1 "5460,ENSG00000204531,OTF3,POU5F1,Q01860" PPARG "peroxisome proliferative activated receptor, gamma" 5468 3:12351593-12434145 1 Yes 3p25 yes follicular thyroid E Dom "TSG, fusion" T PAX8 yes "Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension" "5468,ENSG00000132170,P37231,PPARG" PPFIBP1 "PTPRF interacting protein, binding protein 1 (liprin beta 1)" 8496 12:27633397-27692882 1 12p12.1 yes "Spitzoid tumour, inflammatory myofibroblastic tumour" "E, M" Dom fusion T "ROS1, ALK" "8496,ENSG00000110841,PPFIBP1,Q86W92" PPM1D "protein phosphatase, Mg2+/Mn2+ dependent 1D" 8493 17:60600415-60663552 1 Yes 17q23.3 yes "glioma, ovarian cancer, breast cancer" E Dom oncogene "A, Mis, N, F" "8493,ENSG00000170836,O15297,PPM1D" PPP2R1A "protein phosphatase 2, regulatory subunit A, alpha" 5518 19:52190097-52225981 1 19q13.41 yes clear cell ovarian carcinoma E Dom TSG Mis "5518,ENSG00000105568,P30153,PPP2R1A" PPP6C "protein phosphatase 6, catalytic subunit" 5537 9:125149673-125189718 1 Yes 9q33.3 yes melanoma E Dom TSG "Mis, N" "5537,ENSG00000119414,O00743,PPP6C" PRCC papillary renal cell carcinoma (translocation-associated) 5546 1:156767772-156800460 1 1q21.1 yes papillary renal E Dom fusion T TFE3 "5546,ENSG00000143294,PRCC,Q92733" PRDM1 "PR domain containing 1, with ZNF domain" 639 6:106088267-106107486 1 6q21 yes DLBCL L Rec TSG "D, N, Mis, F, S" "639,BLIMP1,ENSG00000057657,O75626,PRDM1" PRDM16 PR domain containing 16 63976 1:3069260-3433811 1 Yes 1p36.23-p33 yes "MDS, AML" L Dom "oncogene, fusion" T MECOM "63976,ENSG00000142611,PRDM16,Q9HAZ2" PRDM2 PR/SET domain 2 7799 1:13715606-13816547 2 1p36.21 yes "glioma, colon adenocarcinoma, gastric carcinoma, ovarian carcinoma, HNSCC" "E, O" TSG "O, F" "7799,ENSG00000116731,PRDM2,Q13029" PREX2 "phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2" 80243 8:67952395-68231378 1 Yes 8q13.2 yes "melanoma, pancreatic ductal adenocarcinoma" E Dom oncogene "Mis, N" "80243,DEPDC2,ENSG00000046889,PREX2,Q70Z35" PRF1 perforin 1 (pore forming protein) 5551 10:70598053-70600902 1 10q22 yes "various leukaemia, lymphoma" L Rec TSG M yes Type 2 familial haemophagocytic lymphohistiocytosis "5551,ENSG00000180644,P14222,PRF1" PRKACA protein kinase cAMP-activated catalytic subunit alpha 5566 19:14093112-14117547 1 Yes 19p13.1 yes "fibrolamellar hepatocellular carcinoma, cortisol secreting adrenal adenoma" E Dom oncogene "T, Mis, N" DNAJB1 "5566,ENSG00000072062,P17612,PRKACA" PRKAR1A "protein kinase, cAMP-dependent, regulatory, type I, alpha (tissue specific extinguisher 1)" 5573 17:68515400-68530449 1 Yes 17q23-q24 yes yes papillary thyroid "myxoma, endocrine, papillary thyroid" Carney complex "E, M" Dom/Rec "oncogene, TSG, fusion" "T, Mis, N, F, S" RET "5573,ENSG00000108946,P10644,PRKAR1,PRKAR1A,TSE1" PRKCB protein kinase C beta 5579 16:23836176-24214816 2 16p12.2-p12.1 yes adult T-cell lymphoma-leukaemia L Mis "5579,ENSG00000166501,P05771,PKCB,PRKCB,PRKCB1,PRKCB2" PRPF40B pre-mRNA processing factor 40 homolog B 25766 12:49630608-49644192 2 12q13.12 yes "melanoma, colon carcinoma, MDS" "E, L" "F, N" "25766,ENSG00000110844,PRPF40B,Q6NWY9" PRRX1 paired related homeobox 1 5396 1:170664220-170730332 1 1q24 yes AML L Dom fusion T NUP98 "5396,ENSG00000116132,P54821,PMX1,PRRX1" PSIP1 PC4 and SFRS1 interacting protein 1 (LEDGF) 11168 9:15471207-15510188 1 Yes 9p22.3 yes AML L Dom "oncogene, fusion" T NUP98 "11168,ENSG00000164985,O75475,PSIP1,PSIP2" PTCH1 Homolog of Drosophila Patched gene 5727 9:95446912-95508361 1 9q22.3 yes yes "skin basal cell, medulloblastoma" "skin basal cell, medulloblastoma" nevoid basal cell carcinoma syndrome "E, M" Rec TSG "Mis, N, F, S" "5727,ENSG00000185920,NBCCS,PTCH,PTCH1,Q13635" PTEN phosphatase and tensin homolog gene 5728 10:87864470-87965472 1 Yes 10q23.3 yes yes "glioma, prostate, endometrial" "harmartoma, glioma, prostate, endometrial" "Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome" "L, E, M, O" Dom TSG "D, Mis, N, F, S" "5728,BZS,ENSG00000171862,MHAM,P60484,PTEN" PTK6 protein tyrosine kinase 6 5753 20:63529536-63537314 1 Yes 20q13.3 yes "renal, gastric, head and neck, ovarian, others" E Dom "oncogene, TSG" "Mis, N" "5753,ENSG00000101213,PTK6,Q13882" PTPN11 "protein tyrosine phosphatase, non-receptor type 11" 5781 12:112419112-112504764 1 12q24.1 yes "JMML, AML, MDS" L Dom oncogene Mis yes Noonan Syndrome "5781,ENSG00000179295,NS1,PTPN11,Q06124" PTPN13 "protein tyrosine phosphatase, non-receptor type 13" 5783 4:86635257-86814551 1 Yes 4q21.3 yes yes "lung, NSCLC, gastric, peritoneal carcinomatosis" hepatocellular Familial Hepatocellular Carcinoma E Rec TSG "Mis, N" "5783,ENSG00000163629,PTPN13,Q12923" PTPN6 "protein tyrosine phosphatase, non-receptor type 6" 5777 12:6951513-6960864 2 12p13.31 yes DLBCL L TSG Mis "5777,ENSG00000111679,P29350,PTPN6" PTPRB "protein tyrosine phosphatase, receptor type, B" 5787 12:70521489-70609814 1 12q15-q21 yes angiosarcoma E Rec TSG "N, Mis, S, F" "5787,ENSG00000127329,P23467,PTPB,PTPRB" PTPRC "protein tyrosine phosphatase, receptor type, C" 5788 1:198639275-198756181 1 1q31-q32 yes T-ALL L Rec TSG "Mis, N, S" "5788,CD45,ENSG00000081237,PTPRC" PTPRD "protein tyrosine phosphatase, receptor type D" 5789 9:8317874-8733843 2 9p24.1-p23 yes "lung cancer, kidney cancer, HNSCC, glioblastoma" "E, O" TSG "D, N, Mis" "5789,ENSG00000153707,P23468,PTPRD" PTPRK "protein tyrosine phosphatase, receptor type, K" 5796 6:127970227-128520358 1 6q22.2-q22.3 yes colorectal E Dom "TSG, fusion" T RSPO3 "5796,ENSG00000152894,PTPRK,Q15262" PTPRT "protein tyrosine phosphatase, receptor type T" 11122 20:42080879-43189733 1 Yes 20q12-q13 yes "HNSCC, colorectal cancer, gastric cancer, lung cancer, melanoma" E TSG "Mis, N" "11122,ENSG00000196090,O14522,PTPRT" PWWP2A PWWP domain containing 2A 114825 5:160078155-160119388 2 5q33.3 yes Spitzoid tumour E Dom fusion T ROS1 "114825,ENSG00000170234,PWWP2A,Q96N64" QKI "QKI, KH domain containing, RNA binding" 9444 6:163415194-163570710 1 Yes 6q26 yes "angiocentric glioma, colorectal cancer" "E, O" Dom "oncogene, TSG" "Mis, F, T" MYB "9444,ENSG00000112531,Q96PU8,QKI" RABEP1 "rabaptin, RAB GTPase binding effector protein 1" 9135 17:5282488-5383224 1 Yes 17p13.2 yes CMML L Dom fusion T PDGFRB "9135,ENSG00000029725,Q15276,RABEP1" RAC1 "ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)" 5879 7:6374736-6402446 1 Yes 7p22 yes "melanoma, carcinoma" E Dom oncogene "Mis, F" "5879,ENSG00000136238,P63000,RAC1" RAD17 RAD17 checkpoint clamp loader component 5884 5:68677728-68677884 2 5q13.2 yes "lymphoma, colon cancer" "E, L" TSG D RAD21 RAD21 homolog (S. pombe) 5885 8:116847500-116866729 1 Yes 8q24.11 yes "AML, endometrium, colorectal, lung" "L, E" Rec "oncogene, TSG" "Mis, N, F" yes Cornelia de Lange syndrome-4 "5885,ENSG00000164754,O60216,RAD21" RAD51B RAD51 paralog B 5890 14:67823544-68594603 1 14q23-q24.2 yes "lipoma, uterine leiomyoma" M Dom "TSG, fusion" T HMGA2 "5890,ENSG00000182185,O15315,RAD51B,RAD51L1" RAF1 v-raf-1 murine leukemia viral oncogene homolog 1 5894 3:12584514-12618721 1 Yes 3p25 yes "pilocytic astrocytoma, prostate" "O, E" Dom "oncogene, fusion" "T, A" "SRGAP3, ESRP1" "5894,ENSG00000132155,P04049,RAF1" RALGDS ral guanine nucleotide dissociation stimulator 5900 9:133098587-133121154 2 9q34.3 yes "PMBL, Hodgkin lymphoma," L Dom fusion T CIITA "5900,ENSG00000160271,Q12967,RALGDS" RANBP2 RAN binding protein 2 5903 2:108719607-108783901 1 Yes 2q12.3 yes inflammatory myofibroblastic tumour M Dom "TSG, fusion" T ALK "5903,ANE1,ENSG00000153201,P49792,RANBP2" RAP1GDS1 "RAP1, GTP-GDP dissociation stimulator 1" 5910 4:98261566-98442117 1 Yes 4q21-q25 yes T-ALL L Dom "oncogene, fusion" T NUP98 "5910,ENSG00000138698,P52306,RAP1GDS1" RARA "retinoic acid receptor, alpha" 5914 17:40331219-40356226 1 17q12 yes APL L Dom "oncogene, fusion" T "PML, ZBTB16, TRIM24, NUMA1, NPM1" "5914,ENSG00000131759,P10276,RARA" RB1 retinoblastoma gene 5925 13:48303913-48480071 1 Yes 13q14 yes yes "retinoblastoma, sarcoma, breast, small cell lung carcinoma" "retinoblastoma, sarcoma, breast, small cell lung carcinoma" familial retinoblastoma "L, E, M, O" Rec TSG "D, Mis, N, F, S" "5925,ENSG00000139687,OSRC,P06400,RB1" RBM10 RNA binding motif protein 10 8241 X:47147482-47186599 1 Yes Xp11.3 yes lung adenocarcinoma E Rec/X TSG "Mis, F, N" yes TARP syndrome "8241,ENSG00000182872,P98175,RBM10" RBM15 RNA binding motif protein 15 64783 1:110339407-110345610 1 Yes 1p13 yes acute megakaryocytic leukaemia L Dom fusion T MKL1 "64783,ENSG00000162775,Q96T37,RBM15" RECQL4 RecQ protein-like 4 9401 8:144511431-144517784 1 Yes 8q24.3 yes "osteosarcoma, skin basal cell, skin sqamous cell" Rothmund-Thompson syndrome M Rec "oncogene, TSG" "N, F, S" "9401,ENSG00000160957,RECQ4,RECQL4,RTS,RecQ4" REL v-rel reticuloendotheliosis viral oncogene homolog (avian) 5966 2:60881841-60922535 1 2p13-p12 yes Hodgkin lymphoma L Dom oncogene A "5966,ENSG00000162924,Q04864,REL" RET ret proto-oncogene 5979 10:43077259-43128269 1 10q11.2 yes yes "medullary thyroid, papillary thyroid, pheochromocytoma, NSCLC, Spitzoid tumour" "medullary thyroid, papillary thyroid, pheochromocytoma" multiple endocrine neoplasia 2A/2B "E, O" Dom "oncogene, fusion" "T, Mis, N, F" "H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6" yes Hirschsprung disease "5979,ENSG00000165731,HSCR1,MEN2A,MEN2B,MTC1,P07949,RET" RFWD3 ring finger and WD repeat domain 3 55159 16:74623928-74661449 2 16q23.1 yes yes lung cancer Fanconi anemia W E TSG D "55159,ENSG00000168411,Q6PCD5,RFWD3" RGPD3 RANBP2-like and GRIP domain containing 3 653489 2:106405219-106468288 2 2q12.2 yes endometrioid adenocarcinoma E Mis "653489,A6NKT7,ENSG00000153165,RGPD3" RGS7 regulator of G protein signaling 7 6000 1:240776163-241355776 2 1q43 yes melanoma E Mis "6000,ENSG00000182901,P49802,RGS7" RHOA ras homolog family member A 387 3:49360209-49375589 1 Yes 3p21.3 yes "diffuse gastric, T cell lymphomas, paediatric Burkitt lymphoma" "E, L" Dom "oncogene, TSG" "Mis, F, O" "387,ARH12,ARHA,ENSG00000067560,P61586,RHOA" RHOH ras homolog family member H 399 4:40243387-40243962 1 Yes 4p13 yes NHL L Dom "TSG, fusion" T BCL6 "399,ARHH,ENSG00000168421,Q15669,RHOH" RMI2 RecQ mediated genome instability 2 116028 16:11345472-11350790 1 16p13.13 yes "PMBL, Hodgkin lymphoma" L Dom "TSG, fusion" T CIITA "116028,C16orf75,ENSG00000175643,Q96E14,RMI2" RNF213 ring finger protein 213 57674 17:80340149-80393498 1 Yes 17q25.3 yes ALCL L Dom fusion T ALK "57674,C17orf27,ENSG00000173821,KIAA1618,MYMY2,RNF213" RNF43 ring finger protein 43 54894 17:58354943-58415577 1 Yes 17q23.2 yes "cholangiocarcinoma, ovary, pancreas" E Rec TSG "Mis, N, F, S" "54894,ENSG00000108375,Q68DV7,RNF43" ROBO2 roundabout guidance receptor 2 6092 3:77040786-77646055 2 3p12.3 yes "colorectal adenocarcinoma, melanoma" E TSG F "6092,ENSG00000185008,Q9HCK4,ROBO2" ROS1 v-ros UR2 sarcoma virus oncogene homolog 1 (avian) 6098 6:117288492-117425656 1 Yes 6q22 yes "glioblastoma, NSCLC, Spitzoid tumour, cholangiocarcinoma, borderline ovarian" "O, E" Dom "oncogene, fusion" T "GOPC, SDC4, SLC34A2, EZR, LRIG3, HLA-A, MYO5A, PPFIBP1, ERC1, CLIP1, TPM3, ZCCHHC8, KIAA1598, PWWP2A" "6098,ENSG00000047936,P08922,ROS1" RPL10 ribosomal protein L10 6134 X:154398520-154400854 1 Xq28 yes T-ALL L Dom TSG Mis "6134,ENSG00000147403,P27635,RPL10" RPL22 ribosomal protein L22 (EAP) 6146 1:6186672-6199573 1 1p36.31 yes "AML, CML" L Dom "TSG, fusion" T RUNX1 "6146,ENSG00000116251,P35268,RPL22" RPL5 ribososomal protein L5 6125 1:92832115-92841865 1 1p22.1 yes T-ALL L Dom TSG "Mis, N, F" yes Diamond-Blackfan anaemia "6083,ENSG00000122406,P46777,RPL5" RPN1 ribophorin I 6184 3:128620411-128650800 1 3q21.3-q25.2 yes AML L Dom fusion T MECOM "6184,ENSG00000163902,P04843,RPN1" RSPO2 R-spondin 2 340419 8:107901075-108082638 1 8q23.1 yes colorectal E Dom "TSG, fusion" T EIF3E "340419,ENSG00000147655,Q6UXX9,RSPO2" RSPO3 R-spondin 3 84870 6:127119193-127196007 1 6q22.33 yes colorectal E Dom "oncogene, fusion" T PTPRK "84870,ENSG00000146374,Q9BXY4,RSPO3,THSD2" RUNDC2A RUN domain containing 2A 92017 16:11976807-12052226 2 16p13.13 yes "PMBL, Hodgkin lymphoma" L Dom fusion T CIITA "84127,ENSG00000140660,FLJ12363,Q9HA26,RUNDC2A" RUNX1 runt-related transcription factor 1 (AML1) 861 21:34792135-35048899 1 21q22.3 yes "AML, pre B-ALL, T-ALL" L Dom "oncogene, TSG, fusion" T "RPL22, MECOM, CBFA2T3, RUNX1T1, ETV6, AFF3" "861,AML1,CBFA2,ENSG00000159216,Q01196,RUNX1" RUNX1T1 "runt-related transcription factor 1; translocated to, 1 (cyclin D-related)" 862 8:91960242-92017340 1 Yes 8q22 yes AML L Dom "oncogene, TSG, fusion" T "KMT2A, RUNX1" "862,AML1T1,CBFA2T1,ENSG00000079102,Q06455,RUNX1T1" S100A7 S100 calcium binding protein A7 6278 1:153457806-153459013 2 1q21.3 yes "melanoma, T-cell lymphoma" "E, L" fusion "Mis, T" VAV1 "6278,ENSG00000143556,P31151,PSOR1,S100A7" SALL4 spalt like transcription factor 4 57167 20:51784265-51802408 1 20q13.2 yes "colorectal cancer, breast cancer, prostate cancer, glioblastoma, melanoma" E oncogene "Mis, F" Duane-radial ray syndrome "57167,ENSG00000101115,Q9UJQ4,SALL4" SBDS Shwachman-Bodian-Diamond syndrome protein 51119 7:66988371-66995417 1 7q11 yes "AML, MDS" Schwachman-Diamond syndrome L Rec TSG "F, N, O" "51119,ENSG00000126524,Q9Y3A5,SBDS" SDC4 syndecan 4 6385 20:45327264-45348384 1 20q12 yes NSCLC E Dom fusion T ROS1 "6385,ENSG00000124145,P31431,SDC4" SDHA "succinate dehydrogenase complex, subunit A, flavoprotein (Fp)" 6389 5:218356-256420 1 Yes 5p15 yes yes "GIST, paraganglioma" paraganglioma paragangliomas-5 (PGL5) "M, O" Rec TSG "Mis, N" "6389,ENSG00000073578,P31040,SDH2,SDHA" SDHAF2 succinate dehydrogenase complex assembly factor 2 54949 11:61430147-61446071 1 11q12.2 yes paraganglioma familial paraganglioma M Rec TSG M "54949,C11orf79,ENSG00000167985,PGL2,Q9NX18,SDHAF2" SDHB "succinate dehydrogenase complex, subunit B, iron sulfur (Ip)" 6390 1:17018881-17054019 1 1p36.1-p35 yes "paraganglioma, pheochromocytoma" familial paraganglioma O Rec TSG "Mis, N, F" "6390,ENSG00000117118,P21912,SDH,SDH1,SDHB" SDHC "succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa" 6391 1:161314406-161362433 1 1q21 yes "paraganglioma, pheochromocytoma" familial paraganglioma O Rec TSG "Mis, N, F" "55973,6391,BCAP29,ENSG00000075790,ENSG00000143252,PGL3,Q99643,Q9UHQ4,SDHC" SDHD "succinate dehydrogenase complex, subunit D, integral membrane protein" 6392 11:112086908-112094970 1 11q23 yes "paraganglioma, pheochromocytoma" familial paraganglioma O Rec TSG "Mis, N, F, S" "6392,ENSG00000204370,O14521,PGL,PGL1,SDHD" SEPT5 septin 5 5413 22:19714590-19722485 2 22q11.21 yes AML L Dom fusion T KMT2A "2812,ENSG00000184702,PNUTL1,Q99719,SEPT5" SEPT6 septin 6 23157 X:119618762-119693105 2 Xq24 yes AML L Dom fusion T KMT2A "23157,ENSG00000125354,Q14141,SEPT6" SEPT9 septin 9 10801 17:77320327-77498658 2 17q25 yes AML* L Dom fusion T KMT2A "10801,ENSG00000184640,MSF,Q9UHD8,SEPT9" SET SET translocation 6418 9:128689583-128694664 1 9q34 yes T-ALL L Dom "oncogene, fusion" T NUP214 "6418,ENSG00000119335,Q01105,SET" SETBP1 SET binding protein 1 26040 18:44701347-45063698 1 18q21.1 yes yes "aCML, sAML, MDS/MPN-U, CMML, JMML" neuroepithelial tumours Schinzel-Giedion syndrome L Dom "oncogene, fusion" "Mis, T" NUP98 "26040,ENSG00000152217,Q9Y6X0,SETBP1" SETD1B SET domain containing 1B 23067 12:121819473-121830240 2 12q24.31 yes "CRC, endometrium" E TSG "D, F" "23067,ENSG00000139718,Q9UPS6,SETD1B" SETD2 SET domain containing 2 29072 3:47017093-47123126 1 3p21.31 yes clear cell renal carcinoma E Rec TSG "N, F, S, Mis" "29072,ENSG00000181555,SETD2" SETDB1 SET domain bifurcated 1 9869 1:150927715-150964364 2 1q21.3 yes malignant mesothelioma E oncogene "F, Mis" "9869,ENSG00000143379,Q15047,SETDB1" SF3B1 "splicing factor 3b, subunit 1, 155kDa" 23451 2:197392303-197434999 1 2q33.1 yes myelodysplastic syndrome L Dom oncogene Mis "23451,ENSG00000115524,O75533,SF3B1" SFPQ splicing factor proline/glutamine rich(polypyrimidine tract binding protein associated) 6421 1:35184456-35193049 1 Yes 1p34.3 yes papillary renal E Dom "TSG, fusion" T TFE3 "6421,ENSG00000116560,P23246,SFPQ" SFRP4 secreted frizzled related protein 4 6424 7:37907479-37916537 1 7p14.1 yes "colorectal cancer, melanoma, SCC, gastric cancer, oesophageal SCC" E Rec TSG Mis yes Pyle disease "6424,ENSG00000106483,Q6FHJ7,SFRP4" SGK1 serum/glucocorticoid regulated kinase 1 6446 6:134170268-134174807 2 6q23.2 yes Nodular lymphocyte predominant Hodgkin lymphoma L oncogene Mis "6446,ENSG00000118515,O00141,SGK,SGK1" SH2B3 SH2B adaptor protein 3 10019 12:111418146-111448302 1 12q24.12 yes "MPN, sAML, erythrocytosis, B-ALL" L Rec TSG "Mis, F, N" yes "Coeliac disease type 13; diabetes mellitus, insulin-dependent;" "10019,ENSG00000111252,Q9UQQ2,SH2B3" SH3GL1 SH3-domain GRB2-like 1 (EEN) 6455 19:4361600-4400368 1 19p13.3 yes AL L Dom "oncogene, fusion" T KMT2A "6455,ENSG00000141985,Q99961,SH3GL1" SIRPA signal regulatory protein alpha 140885 20:1895448-1937568 2 20p13 yes "HNSCC, colorectal cancer, Lung SCC" E TSG "O, F" "140885,ENSG00000198053,P78324,PTPNS1,SIRPA" SIX1 SIX homeobox 1 6495 14:60646283-60649189 1 14q23.1 yes Wilms tumour O oncogene Mis "6495,DFNA23,ENSG00000126778,Q15475,SIX1" SIX2 SIX homeobox 2 10736 2:45006170-45009110 2 2p21 yes Wilms tumour O oncogene Mis "10736,ENSG00000170577,Q9NPC8,SIX2" SKI SKI proto-oncogene 6497 1:2228767-2306765 2 1p36.33-p36.32 yes melanoma E oncogene Mis "6497,ENSG00000157933,P12755,SKI" SLC34A2 "solute carrier family 34 (sodium phosphate), member 2" 10568 4:25662501-25676749 1 Yes 4p15.2 yes NSCLC E Dom "TSG, fusion" T ROS1 "10568,ENSG00000157765,O95436,SLC34A2" SLC45A3 "solute carrier family 45, member 3" 85414 1:205659234-205664656 1 Yes 1q32 yes prostate E Dom fusion T "ETV1, ETV5, ELK4, ERG, BRAF" "85414,ENSG00000158715,PCANAP2,PCANAP6,PCANAP8,Q96JT2,SLC45A3" SMAD2 SMAD family member 2 4087 18:47841827-47896756 1 Yes 18q21 yes "colorectal carcinoma, hepatocellular carcinoma" E Rec TSG "Mis, N" "4087,ENSG00000175387,MADH2,Q15796,SMAD2" SMAD3 SMAD family member 3 4088 15:67066155-67190536 1 Yes 15q21-q22 yes "colorectal carcinoma, oral squamous cell carcinoma" E Rec TSG Mis "4088,ENSG00000166949,MADH3,P84022,SMAD3" SMAD4 SMAD family member 4 4089 18:51047047-51078467 1 18q21.1 yes yes "colorectal, pancreatic, small intestine" gastrointestinal polyp juvenile polyposis E Rec TSG "D, Mis, N, F" "4089,ENSG00000141646,MADH4,Q13485,SMAD4" SMARCA4 "SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4" 6597 19:10984152-11061816 1 19p13.2 yes "NSCLC, SCCOHT" E Rec TSG "F, N, Mis, S" "6597,ENSG00000127616,P51532,SMARCA4,SNF2L4" SMARCB1 "SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1" 6598 22:23787170-23834180 1 22q11 yes yes malignant rhabdoid malignant rhabdoid rhabdoid predisposition syndrome M Rec TSG "D, N, F, S" "6598,ENSG00000099956,Q12824,SMARCB1,SNF5L1" SMARCD1 "SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1" 6602 12:50085487-50099000 1 12q13-q14 yes breast E Rec TSG N "6602,ENSG00000066117,Q96GM5,SMARCD1" SMARCE1 "SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1" 6605 17:40628785-40645626 1 17q21.2 yes meningioma O Rec TSG "F, Mis, N" "6605,ENSG00000073584,Q969G3,SMARCE1" SMC1A structural maintenance of chromosomes 1A 8243 X:53380103-53422600 2 Xp11.22 yes AML L TSG Mis yes Cornelia de Lange syndrome "8243,ENSG00000072501,Q14683,SMC1A,SMC1L1" SMO smoothened homolog (Drosophila) 6608 7:129189152-129212451 1 7q31-q32 yes skin basal cell E Dom oncogene Mis "6608,ENSG00000128602,Q99835,SMO,SMOH" SND1 staphylococcal nuclease and tudor domain containing 1 27044 7:127652374-128092058 1 7q31.3 yes pancreas acinar carcinoma E Dom "oncogene, fusion" T BRAF "27044,ENSG00000197157,Q7KZF4,SND1" SOCS1 suppressor of cytokine signaling 1 8651 16:11254843-11255478 1 16p13.13 yes "Hodgkin lymphoma, PMBL" L Rec TSG "F, O" "8651,ENSG00000185338,O15524,SOCS1" SOX2 SRY (sex determining region Y)-box 2 6657 3:181712361-181713314 1 3q26.3-q27 yes "NSCLC, oesophageal squamous carcinoma" E Dom oncogene A yes Microphthalmia and oesophageal atresia syndrome "6657,ENSG00000181449,P48431,SOX2" SOX21 SRY-box 21 11166 13:94711219-94712049 2 13q32.1 yes multiple myeloma L TSG D "11166,ENSG00000125285,Q9Y651,SOX21" SPECC1 sperm antigen with calponin homology and coiled-coil domains 1 92521 17:20096653-20314066 2 17p11.2 yes JMML L Dom fusion T PDGFRB "92521,CYTSB,ENSG00000128487,Q5M775,SPECC1" SPEN spen family transcriptional repressor 23013 1:15848068-15939427 1 1p36 yes "SMZL, adenoid cystic carcinoma, DLBCL" L Rec TSG "F, Mis, N" "23013,ENSG00000065526,Q96T58,SPEN" SPOP speckle type POZ protein 8405 17:49600378-49622810 1 Yes 17q21.33 yes yes "prostate, endometrial" prostate cancer E Rec TSG Mis "8405,ENSG00000121067,O43791,SPOP" SRC "SRC proto-oncogene, non-receptor tyrosine kinase" 6714 20:37384154-37403379 1 20q11.23 yes "colorectal cancer, endometrial carcinoma" E Dom oncogene "Mis, N" "6714,ENSG00000197122,P12931,SRC,SRC1" SRGAP3 SLIT-ROBO Rho GTPase activating protein 3 9901 3:8985519-9248951 2 3p25.3 yes pilocytic astrocytoma O Dom fusion T RAF1 "9901,ENSG00000196220,O43295,SRGAP2,SRGAP3" SRSF2 serine/arginine-rich splicing factor 2 6427 17:76736161-76737160 1 17q25 yes "MDS, CLL" L Dom oncogene Mis "6427,ENSG00000161547,Q01130,SFRS2,SRSF2" SRSF3 serine/arginine-rich splicing factor 3 6428 6:36596763-36601989 1 6p21 yes follicular lymphoma L Dom "oncogene, fusion" T BCL6 "6428,ENSG00000112081,P84103,SFRS3,SRSF3" SS18 "synovial sarcoma translocation, chromosome 18" 6760 18:26018354-26090569 1 18q11.2 yes synovial sarcoma M Dom fusion T "SSX1, SSX2, SSX4" "6760,ENSG00000141380,Q15532,SS18,SSXT" SS18L1 synovial sarcoma translocation gene on chromosome 18-like 1 26039 20:62143822-62179209 1 20q13.3 yes synovial sarcoma M Dom fusion T SSX1 "26039,ENSG00000184402,O75177,SS18L1" SSX1 "synovial sarcoma, X breakpoint 1" 6756 X:48257242-48266387 1 Xp11.23-p11.22 yes synovial sarcoma M Dom "oncogene, fusion" T SS18 "6756,ENSG00000126752,Q16384,SSX1" SSX2 "synovial sarcoma, X breakpoint 2" 6757 X:52752681-52789480 1 Xp11.23-p11.22 yes synovial sarcoma M Dom "oncogene, fusion" T SS18 "6757,ENSG00000241476,Q16385,SSX,SSX2" SSX4 "synovial sarcoma, X breakpoint 4" 6759 X:48391869-48411372 1 Xp11.23 yes synovial sarcoma M Dom "oncogene, fusion" T SS18 "6759,ENSG00000204645,O60224,SSX4" STAG1 stromal antigen 1 10274 3:136338254-136630898 2 3q22.3 yes "colorectal cancer, AML" "E, L" TSG "Mis, N" "10274,ENSG00000118007,Q8WVM7,STAG1" STAG2 stromal antigen 2 10735 X:124022628-124100597 1 Xq25 yes "bladder carcinoma, glioblastoma, melanoma, Ewing's sarcoma, myeloid neoplasms" "E, L, M, O" Rec TSG "Mis, N, F, S" "10735,ENSG00000101972,Q8N3U4,STAG2" STAT3 signal transducer and activator of transcription 3 (acute-phase response factor) 6774 17:42315745-42348516 1 17q21.31 yes yes T-cell large granular lymphocytic leukaemia paediatric large granular lymphocytic leukaemia L Dom oncogene "Mis,O" yes IPEX-like syndrome "6774,ENSG00000168610,P40763,STAT3" STAT5B signal transducer and activator of transcription 5B 6777 17:42201738-42232127 1 17q11.2 yes "large granular lymphocytic leukaemia, skin basal cell, APL" "L, E" Dom "oncogene, TSG, fusion" "Mis, O, T" RARA yes IPEX-like syndrome "6777,ENSG00000173757,P51692,STAT5B" STAT6 "signal transducer and activator of transcription 6, interleukin-4 induced" 6778 12:57096572-57108278 1 12q13 yes "solitary fibrous tumour, meningeal haemangiopericytoma" "M, O" Dom "oncogene, fusion" T NAB2 "6778,ENSG00000166888,P42226,STAT6" STIL SCL/TAL1 interrupting locus 6491 1:47251136-47310319 1 1p32 yes T-ALL L Dom "oncogene, fusion" T TAL1 "6491,ENSG00000123473,Q15468,SIL,STIL" STK11 serine/threonine kinase 11 gene (LKB1) 6794 19:1206914-1226647 1 19p13.3 yes yes "NSCLC, pancreatic" "jejunal hamartoma, ovarian, testicular, pancreatic" Peutz-Jeghers syndrome "E, M, O" Rec TSG "D, Mis, N, F, S" "6794,ENSG00000118046,Q15831,STK11" STRN "striatin, calmodulin binding protein" 6801 2:36849456-36966463 1 2p22.2 yes "anaplastic thyroid, papillary thyroid, lung" E Dom fusion T ALK "6801,ENSG00000115808,O43815,STRN" SUFU suppressor of fused homolog (Drosophila) 51684 10:102504153-102630155 1 10q24.32 yes yes medulloblastoma medulloblastoma medulloblastoma predisposition O Rec TSG "D, F, S" "51684,ENSG00000107882,Q9UMX1,SUFU" SUZ12 suppressor of zeste 12 homolog (Drosophila) 23512 17:31937247-31999003 1 Yes 17q11.2 yes endometrial stromal tumour M Dom "oncogene, TSG, fusion" T JAZF1 "23512,ENSG00000178691,Q15022,SUZ12" SYK spleen tyrosine kinase 6850 9:90843899-90895600 1 9q22 yes "MDS, peripheral T-cell lymphoma" L Dom "oncogene, fusion" T "ETV6, ITK" "6850,ENSG00000165025,P43405,SYK" TAF15 "TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa" 8148 17:35809571-35846946 1 17q11.1-q11.2 yes "extraskeletal myxoid chondrosarcoma, ALL" "L, M" Dom "oncogene, fusion" T "NR4A3, CHN1, ZNF384" "8148,ENSG00000172660,Q92804,TAF15,TAF2N" TAL1 T-cell acute lymphocytic leukemia 1 (SCL) 6886 1:47219720-47225888 1 1p32 yes lymphoblastic leukaemia/biphasic L Dom "oncogene, fusion" T "TRD, STIL" "6886,ENSG00000162367,P17542,TAL1,TCL5" TAL2 T-cell acute lymphocytic leukemia 2 6887 9:108424779-108425393 1 9q31 yes T-ALL L Dom "oncogene, fusion" T TRB TBL1XR1 transducin (beta)-like 1 X-linked receptor 1 79718 3:177025498-177064977 1 Yes 3q26.32 yes "splenic marginal zone lymphoma, primary central nervous system lymphoma, colorectal carcinoma, gallbladder carcinoma" "L, E, M" Rec "oncogene, TSG, fusion" "F, Mis" "79718,ENSG00000177565,Q9BZK7,TBL1XR1" TBX3 T-box 3 6926 12:114671841-114683200 1 12q24.21 yes "breast, large intestine, skin" E Dom "oncogene, TSG" "Mis, N, F, O" yes ulnar-mammary syndrome "6926,ENSG00000135111,O15119,TBX3,UMS" TCEA1 "transcription elongation factor A (SII), 1" 6917 8:53970288-53984488 1 8q11.2 yes salivary adenoma E Dom fusion T PLAG1 "6917,ENSG00000187735,TCEA1" TCF12 "transcription factor 12 (HTF4, helix-loop-helix transcription factors 4)" 6938 15:56919914-57288514 1 15q21 yes extraskeletal myxoid chondrosarcoma M Dom fusion T NR4A3 "6938,ENSG00000140262,Q99081,TCF12" TCF3 transcription factor 3 (E2A immunoglobulin enhancer binding factors E12/E47) 6929 19:1611707-1650248 1 19p13.3 yes pre B-ALL L Dom "oncogene, TSG, fusion" T "PBX1, HLF, TFPT" "6929,ENSG00000071564,P15923,TCF3" TCF7L2 transcription factor 7-like 2 6934 10:112950757-113165972 1 Yes 10q25.3 yes colorectal E Dom "oncogene, fusion" T VTI1A "6934,ENSG00000148737,Q9NQB0,TCF4,TCF7L2" TCL1A T-cell leukemia/lymphoma 1A 8115 14:95711755-95714066 1 Yes 14q32.1 yes T-CLL L Dom "oncogene, fusion" T TRA "8115,ENSG00000100721,P56279,TCL1A" TEC tec protein tyrosine kinase 7006 4:48137416-48228614 2 4p12-p11 yes myxoid chondrosarcoma M "oncogene, fusion" T "7006,ENSG00000135605,P42680,TEC" TERT telomerase reverse transcriptase 7015 5:1253728-1294989 1 Yes 5p15.33 yes yes "melanoma, glioblastoma, hepatocellular carcinoma, bladder, skin basal cell, skin squamous cell, mesothelioma, medulloblastoma, other tumour types" melanoma "E, O" Dom "oncogene, TSG" Promoter Mis yes "Dyskeratosis congenita, Telomere-related pulmonary fibrosis and/or bone marrow failure 1" "7015,ENSG00000164362,O14746,TERT" TET1 tet methylcytosine dioxygenase 1 80312 10:68572340-68691815 1 Yes 10q21 yes AML L Dom "oncogene, TSG, fusion" T KMT2A "80312,CXXC6,ENSG00000138336,Q8NFU7,TET1" TET2 tet oncogene family member 2 54790 4:105233943-105276519 1 4q24 yes MDS L Rec TSG "Mis, N, F" "54790,ENSG00000168769,KIAA1546,Q6N021,TET2" TFE3 transcription factor binding to IGHM enhancer 3 7030 X:49030158-49043226 1 Yes Xp11.22 yes "papillary renal, alveolar soft part sarcoma, renal" E Dom "oncogene, fusion" T "SFPQ, ASPSCR1, PRCC, NONO, CLTC" "7030,ENSG00000068323,P19532,TFE3" TFEB transcription factor EB 7942 6:41684599-41691213 1 6p21 yes renal cell carcinoma (childhood epithelioid) "E,M" Dom "oncogene, fusion" T ALPHA "7942,ENSG00000112561,P19484,TFEB" TFG TRK-fused gene 10342 3:100713687-100748532 1 3q11-q12 yes "papillary thyroid, ALCL, NSCLC, extraskeletal myxoid chondrosarcoma" "E, L, M" Dom fusion T "NTRK1, ALK, NR4A3" "10342,ENSG00000114354,Q92734,TFG" TFPT TCF3 (E2A) fusion partner (in childhood leukaemia) 29844 19:54107050-54115269 2 19q13 yes pre-B ALL L Dom fusion T TCF3 "29844,ENSG00000105619,P0C1Z6,TFPT" TFRC "transferrin receptor (p90, CD71)" 7037 3:196051942-196077099 2 3q29 yes NHL L Dom fusion T BCL6 "7037,ENSG00000072274,P02786,TFRC" TGFBR2 transforming growth factor beta receptor II 7048 3:30606884-30691599 1 Yes 3p22 yes yes "head and neck, colorectal" colorectal Hereditary Nonpolyposis Colorectal Cancer type 6 E Rec TSG "Mis, F, N" yes Loeys-Dietz syndrome 2 "7048,ENSG00000163513,MFS2,P37173,TGFBR2" THRAP3 thyroid hormone receptor associated protein 3 (TRAP150) 9967 1:36282564-36304017 2 1p34.3 yes aneurysmal bone cyst M Dom fusion T USP6 "9967,ENSG00000054118,Q9Y2W1,THRAP3" TLX1 "T-cell leukemia, homeobox 1 (HOX11)" 3195 10:101131543-101136914 1 10q24 yes T-ALL L Dom "oncogene, fusion" T "TRB, TRD" "3195,ENSG00000107807,HOX11,P31314,TCL3,TLX1" TLX3 "T-cell leukemia, homeobox 3 (HOX11L2)" 30012 5:171309367-171311600 1 5q35.1 yes T-ALL L Dom "oncogene, fusion" T BCL11B "30012,ENSG00000164438,HOX11L2,O43711,TLX3" TMEM127 transmembrane protein 127 55654 2:96253808-96265381 1 2q11.2 yes "pheochromocytoma, renal cell carcinoma" "O, E" Rec TSG "F, N" "55654,ENSG00000135956,O75204,TMEM127" TMPRSS2 "transmembrane protease, serine 2" 7113 21:41466142-41498133 1 Yes 21q22.3 yes prostate E Dom fusion T "ERG, ETV1, ETV4, ETV5" "7113,ENSG00000184012,O15393,TMPRSS2" TNC tenascin C 3371 9:115021157-115091018 2 9q33.1 yes "SCC, melanoma" E oncogene Mis "3371,DFNA56,ENSG00000041982,HXB,P24821,TNC" TNFAIP3 "tumor necrosis factor, alpha-induced protein 3" 7128 6:137871228-137881319 1 Yes 6q23 yes "marginal zone B-cell lymphomas, Hodgkin lymphoma, PMBL" L Rec TSG "D, N, F" "7128,ENSG00000118503,P21580,TNFAIP3" TNFRSF14 "tumor necrosis factor receptor superfamily, member 14 (herpesvirus entry mediator)" 8764 1:2556665-2563273 1 1p36.32 yes follicular lymphoma L Rec TSG "Mis, N, F" "8764,ENSG00000157873,Q92956,TNFRSF14" TNFRSF17 "tumor necrosis factor receptor superfamily, member 17" 608 16:11965325-11967847 1 16p13.1 yes intestinal T-cell lymphoma L Dom "oncogene, fusion" T IL2 "608,BCMA,ENSG00000048462,Q02223,TNFRSF17" TOP1 topoisomerase (DNA) I 7150 20:41029068-41123297 1 20q12-q13.1 yes AML* L Dom fusion T NUP98 "7150,ENSG00000198900,P11387,TOP1" TP53 tumor protein p53 7157 17:7669609-7676594 1 Yes 17p13 yes yes "breast, colorectal, lung, sarcoma, adrenocortical, glioma, Spitzoid tumour, multiple other tumour types" "breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types" Li-Fraumeni syndrome "L, E, M, O" Rec "oncogene, TSG, fusion" "Mis, N, F, T" NTRK1 "7157,ENSG00000141510,P04637,TP53" TP63 tumor protein p63 8626 3:189631516-189894502 1 Yes 3q28 yes yes "HNSCC, DLBCL" NSCLC E "oncogene, TSG" "Mis, N, T" TBL1XR1 yes "associated with Hay-Wells syndrome, ADULT syndrome, ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome (EEC), acro-dermato-ungual-lacrimal-tooth syndrome, limb mammary syndrome, Rapp-Hodgkin syndrome, split hand-split foot malformation" "8626,ENSG00000073282,Q9H3D4,TP53CP,TP53L,TP63,TP73L" TPM3 tropomyosin 3 7170 1:154157639-154183119 1 1q22-q23 yes "papillary thyroid, ALCL, NSCLC, Spitzoid tumour" "E, L" Dom "TSG, fusion" T "NTRK1, ALK, ROS1" "7170,ENSG00000143549,NEM1,P06753,TPM3" TPM4 tropomyosin 4 7171 19:16076567-16101347 1 19p13.1 yes ALCL L Dom fusion T ALK "7171,ENSG00000167460,P67936,TPM4" TPR translocated promoter region 7175 1:186313971-186375028 1 1q25 yes "papillary thyroid, NSCLC" E Dom fusion T "NTRK1, ALK" "7175,ENSG00000047410,P12270,TPR" TRA T cell receptor alpha locus 6955 14:- 1 14q11.2 yes T-ALL L Dom fusion T "ATL,OLIG2, MYC, TCL1A, TCL6, MTCP1, TCL6" TRAF7 tumour necrosis factor receptor-associated factor 7 84231 16:2163921-2176574 1 16p13.3 yes meningioma O Dom TSG Mis "84231,ENSG00000131653,Q6Q0C0,RFWD1,TRAF7" TRB T cell receptor beta locus 6957 7:- 1 7q34 yes T-ALL L Dom fusion T "HOX11, LCK, NOTCH1, TAL2, LYL1" TRD T cell receptor delta locus 6964 14:- 1 14q11.2 yes T-cell leukaemia L Dom fusion T "TAL1, HOX11, TLX1, LMO1, LMO2, RANBP17" TRIM24 tripartite motif containing 24 8805 7:138460549-138584951 1 7q32-q34 yes APL L Dom "oncogene, TSG, fusion" T RARA "8805,ENSG00000122779,O15164,TIF1,TRIM24" TRIM27 tripartite motif-containing 27 5987 6:28904070-28923632 1 6p22 yes papillary thyroid E Dom "oncogene, fusion" T RET "5987,ENSG00000204713,P14373,RFP,TRIM27" TRIM33 "tripartite motif-containing 33 (PTC7,TIF1G)" 51592 1:114397648-114511076 1 1p13 yes papillary thyroid E Dom "TSG, fusion" T RET "51592,ENSG00000197323,Q9UPN9,TRIM33" TRIP11 thyroid hormone receptor interactor 11 9321 14:91969673-92039685 1 14q31-q32 yes AML L Dom fusion T PDGFRB "9321,ENSG00000100815,Q15643,TRIP11" TRRAP transformation/transcription domain-associated protein 8295 7:98881151-99012355 1 7q21.2-q22.1 yes melanoma E Dom oncogene Mis "8295,ENSG00000196367,Q9Y4A5,TRRAP" TSC1 tuberous sclerosis 1 gene 7248 9:132896235-132928872 1 9q34 yes yes "renal cell carcinoma, bladder carcinoma" "hamartoma, renal cell carcinoma, tuberous sclerosis tuber" Tuberous sclerosis 1 "E, O" Rec TSG "D, Mis, N, F, S" "7248,ENSG00000165699,Q92574,TSC,TSC1" TSC2 tuberous sclerosis 2 gene 7249 16:2048616-2088610 1 16p13.3 yes yes "pulmonary lymphangioleiomyomatosis (LAM), renal angiomyolipoma, HNSCC" "hamartoma, renal cell carcinoma, tuberous sclerosis tuber" Tuberous sclerosis 2 "E, O" Rec TSG "D, Mis, N, F, S" "7249,ENSG00000103197,P49815,TSC2,TSC4" TSHR thyroid stimulating hormone receptor 7253 14:80955681-81144353 1 14q31 yes yes toxic thyroid adenoma thyroid adenoma E Dom oncogene Mis yes "Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism" "7253,ENSG00000165409,TSHR" U2AF1 U2 small nuclear RNA auxiliary factor 1 7307 21:43093102-43107494 1 21q22.3 yes "CLL, MDS" L Dom oncogene Mis "7307,ENSG00000160201,Q01081,U2AF1,U2AFBP" UBR5 ubiquitin protein ligase E3 component n-recognin 5 51366 8:102254302-102412234 1 8q22 yes "mantle cell lymphoma, gastric, colorectal" "L, E" Rec TSG "F, N, Mis, S" "51366,EDD1,ENSG00000104517,O95071,UBR5" USP44 ubiquitin specific peptidase 44 84101 12:95518154-95534256 2 12q21.33 yes "lung cancer, colon cancer" E TSG D "84101,ENSG00000136014,Q9H0E7,USP44" USP6 ubiquitin specific peptidase 6 (Tre-2 oncogene) 9098 17:5130368-5148597 1 17p13 yes aneurysmal bone cyst M Dom "oncogene, fusion" T "COL1A1, CDH11, CNBP, OMD, THRAP3" "9098,ENSG00000129204,HRP1,P35125,TRESMCR,USP6" USP8 ubiquitin specific peptidase 8 9101 15:50439074-50499088 1 Yes 15q21.1 yes corticotroph adenoma E Dom oncogene "Mis, N" "9101,ENSG00000138592,P40818,USP8" VAV1 vav guanine nucleotide exchange factor 1 7409 19:6772808-6857107 2 19p13.3 yes T-cell lymphoma L fusion "T, O" "THAP4, MYO1F, S100A7" "7409,ENSG00000141968,VAV,VAV1" VHL von Hippel-Lindau syndrome gene 7428 3:10141848-10149965 1 Yes 3p25 yes yes "renal, haemangioma, pheochromocytoma" "renal, haemangioma, pheochromocytoma" Von Hippel-Lindau syndrome "E, M, O" Rec TSG "D, Mis, N, F, S" "7428,ENSG00000134086,P40337,VHL" VTI1A vesicle transport through interaction with t-SNAREs homolog 1A 143187 10:112447374-112815383 2 10q25.2 yes colorectal E Dom fusion T TCF7L2 "143187,ENSG00000151532,Q96AJ9,VTI1A" WAS Wiskott-Aldrich syndrome 7454 X:48683854-48691162 1 Yes Xp11.23-p11.22 yes lymphoma Wiskott-Aldrich syndrome L Rec/X oncogene "Mis, N, F, S" "7454,ENSG00000015285,IMD2,P42768,THC,WAS" WHSC1 Wolf-Hirschhorn syndrome candidate 1(MMSET) 7468 4:1900655-1978909 1 4p16.3 yes MM L Dom "oncogene, fusion" T IGH "7468,ENSG00000109685,O96028,WHSC1" WHSC1L1 Wolf-Hirschhorn syndrome candidate 1-like 1 (NSD3) 54904 8:38317956-38348171 1 8p12 yes AML L Dom "oncogene, fusion" "T, A" NUP98 "54904,ENSG00000147548,Q9BZ95,WHSC1L1" WIF1 WNT inhibitory factor 1 11197 12:65051349-65121191 1 Yes 12q14.3 yes pleomorphic salivary gland adenoma E Dom "TSG, fusion" T HMGA2 "11197,ENSG00000156076,Q9Y5W5,WIF1" WNK2 WNK lysine deficient protein kinase 2 65268 9:93184972-93318027 2 9q22.31 yes gastric cancer E TSG Mis "65268,ENSG00000165238,PRKWNK2,Q9Y3S1,WNK2" WRN Werner syndrome (RECQL2) 7486 8:31058448-31173102 1 8p12-p11.2 yes "osteosarcoma, meningioma, other tumour types" Werner syndrome "L, E, M, O" Rec TSG "Mis, N, F, S" "7486,ENSG00000165392,Q14191,WRN" WT1 Wilms tumour 1 gene 7490 11:32389058-32435141 1 11p13 yes yes "Wilms tumour, desmoplastic small round cell tumour" Wilms tumour "Denys-Drash syndrome, Frasier syndrome, familial Wilms tumour" O Rec "oncogene, TSG, fusion" "D, Mis, N, F, S, T" EWSR1 "7490,ENSG00000184937,GUD,WT1" WWTR1 WW domain containing transcription regulator 1 25937 3:149520805-149657306 1 3q23-q24 yes epithelioid haemangioendothelioma M Dom "oncogene, fusion" T CAMTA1 "25937,ENSG00000018408,Q9GZV5,WWTR1" XPA "xeroderma pigmentosum, complementation group A" 7507 9:97675439-97697292 1 9q22.3 yes "skin basal cell, skin squamous cell, melanoma" xeroderma pigmentosum (A) E Rec TSG "Mis, N, F, S" "7507,ENSG00000136936,P23025,XPA" XPC "xeroderma pigmentosum, complementation group C" 7508 3:14145941-14178568 1 3p25 yes "skin basal cell, skin squamous cell, melanoma" xeroderma pigmentosum (C) E Rec TSG "Mis, N, F, S" "7508,ENSG00000154767,Q01831,XPC" XPO1 "exportin 1 (CRM1 homolog, yeast)" 7514 2:61478820-61533897 1 Yes 2p15 yes CLL L Dom oncogene Mis "7514,ENSG00000082898,O14980,XPO1" YWHAE "tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide (14-3-3 epsilon)" 7531 17:1345447-1400110 1 17p13.3 yes endometrial stromal sarcoma M Dom "TSG, fusion" T "NUTM2A, NUTM2B" yes Miller-Dieker lissencephaly syndrome "7531,ENSG00000108953,P62258,YWHAE" ZBTB16 zinc finger and BTB domain containing 16 7704 11:114063302-114250556 1 Yes 11q23.1 yes APL L Dom "TSG, fusion" T RARA "7704,ENSG00000109906,Q05516,ZBTB16,ZNF145" ZCCHC8 "zinc finger, CCHC domain containing 8" 55596 12:122473497-122500840 2 12q24.31 yes Spitzoid tumour E Dom fusion T ROS1 "55596,ENSG00000033030,Q6NZY4,ZCCHC8" ZEB1 zinc finger E-box binding homeobox 1 6935 10:31319235-31527264 2 10p11.22 yes "CCRCC, melanoma" E oncogene Mis "6935,ENSG00000148516,P37275,PPCD3,TCF8,ZEB1" ZFHX3 zinc finger homeobox 3 463 16:72787164-72960145 1 Yes 16q22.3 yes "endometrial, gastric, prostate" E Dom TSG "Mis, N" "463,ATBF1,ENSG00000140836,Q15911,ZFHX3" ZMYM3 zinc finger MYM-type containing 3 9203 X:71240916-71253255 2 Xq13.1 yes "CRC, breast cancer" E TSG F "9203,ENSG00000147130,Q14202,ZMYM3,ZNF261" ZNF198 zinc finger protein 198 7750 13:19993073-20086014 1 13q11-q12 yes "MPN, NHL" L Dom fusion T FGFR1 "7750,ENSG00000121741,Q9UBW7,ZMYM2,ZNF198" ZNF278 zinc finger protein 278 (ZSG) 23598 22:31326891-31345602 1 22q12-q14 yes Ewing sarcoma M Dom "TSG, fusion" T EWSR1 "23598,ENSG00000100105,PATZ1,Q9HBE1,ZNF278" ZNF331 zinc finger protein 331 55422 19:53569378-53577953 1 19q13.3-q13.4 yes follicular thyroid adenoma E Dom "TSG, fusion" T ? "55422,ENSG00000130844,Q9NQX6,ZNF331" ZNF384 zinc finger protein 384 (CIZ/NMP4) 171017 12:6667714-6679520 1 12p13 yes ALL L Dom fusion T "EWSR1, TAF15" "171017,ENSG00000126746,Q8TF68,TNRC1,ZNF384" ZNF429 zinc finger protein 429 353088 19:21505772-21538078 2 19p12 yes GBM O Mis "353088,ENSG00000197013,Q86V71,ZNF429" ZNF479 zinc finger protein 479 90827 7:57119840-57132324 2 7p11.2 yes "lung cancer, bladder carcinoma, prostate carcinoma" E Mis "90827,ENSG00000185177,Q96JC4,ZNF479" ZNF521 zinc finger protein 521 25925 18:25062712-25350946 1 18q11.2 yes ALL L Dom "oncogene, fusion" T PAX5 "25925,ENSG00000198795,Q96K83,ZNF521" ZNRF3 zinc and ring finger 3 84133 22:28987076-29053622 2 22q12.1 yes "colorectal cancer, adrenocortical carcinoma, gastric cancer" E TSG "N, F, Mis" "84133,ENSG00000183579,Q9ULT6,ZNRF3" ZRSR2 "zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2" 8233 X:15790496-15823242 1 Xp22.1 yes "MDS, CLL" L Rec TSG "F, S, Mis" "8233,ENSG00000169249,Q15696,U2AF1L2,ZRSR2"