SNPMiner Trials by Shray Alag

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Report for Mutation C10D

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There is one clinical trial.

Clinical Trials

1 Implementing Non-invasive Circulating Tumor DNA Analysis to Optimize the Operative and Postoperative Treatment for Patients With Colorectal Cancer - Intervention Trial 2

IMPROVE-IT2 is a randomized multicenter trial comparing the outcomes of ctDNA guided post-operative surveillance and standard-of-care CT-scan surveillance. The hypothesis of this study is that ctDNA guided post-operative surveillance combining ctDNA and radiological assessments could result in earlier detection of recurrent disease and identify more patients eligible for curative treatment.

NCT04084249 Colorectal Cancer Colo-rectal Cancer ctDNA Gastro-Intestinal Disorder Colorectal Neoplasms Gastrointestinal Cancer Gastrointestinal Neoplasms Digestive System Disease Digestive System Neoplasm Colonic Diseases Colonic Neoplasms Colonic Cancer Rectal Diseases Rectal Neoplasms Rectal Cancer Diagnostic Test: ctDNA-analysis Other: Intensified Follow-up Schedule
MeSH:Colorectal Neoplasms Rectal Neoplasms Gastrointestinal Neoplasms Colonic Neoplasms Digestive System Neoplasms Gastrointestinal Diseases Colonic Diseases Rectal Diseases Intestinal Diseases Neoplasms Digestive System Diseases
HPO:Abnormal intestine morphology Abnormality of the gastrointestinal tract Colon cancer Malignant gastrointestinal tract tumors Neoplasm Neoplasm of the colon Neoplasm of the gastrointestinal tract Neoplasm of the large intestine Neoplasm of the rectum

QoL/Utility weights for the quality-adjusted life years parameter will be QLU-C10D based on EORTC QLQ-C30.. Inclusion Criteria: - Colon or rectal cancer, tumor stage III (pT1-4N1-2,cM0) or stage II high-risk (pT4N0,cM0 and pT3N0, cM0 with risk factors) - Have received curative intend resection and be candidates for adjuvant chemotherapy Exclusion Criteria: - Not treated with adjuvant chemotherapy - Synchronous colorectal and non-colorectal cancer diagnosed per-operative (except skin cancer other than melanoma) - Other cancers (excluding colorectal cancer or skin cancer other than melanoma) within 3 years from screening - Patients who are unlikely to comply with the protocol (e.g. --- C10D ---

Primary Outcomes

Description: Fraction of patients with relapse receiving intended curative resection or local treatment aiming at complete tumor destruction as defined at the relevant MDT conference.

Measure: FCI

Time: 5 years

Secondary Outcomes

Description: Overall survival at 3 years

Measure: 3yr-OS

Time: 3 years

Description: Overall survival at 5 years

Measure: 5yr-OS

Time: 5 years

Description: Time to clinical recurrence

Measure: TTCR

Time: 3 years

Description: Time to molecular recurrence

Measure: TTMR

Time: 2 years

Description: Quality of Life by use of EORTC QLQ-C30, version 3.0. The QoL outcome measure is differences in QLQ-C30 score at 12, 24 and 36 months between the experimental and control arm.

Measure: QoL

Time: 3 years

Description: Fear of Cancer Recurrence Inventory. The FCRI outcome measure is differences in FCRI at 12, 24 and 36 months between the experimental and control arm.

Measure: FCRI

Time: 3 years

Description: Impact of Events Scale Cancer. The IES-C outcome measure is differences in IES-C at 12, 24 and 36 months between the experimental and control arm.

Measure: IES-C

Time: 3 years

Description: Cost-effectiveness. QoL/Utility weights for the quality-adjusted life years parameter will be QLU-C10D based on EORTC QLQ-C30.

Measure: CE

Time: 5 years

HPO Nodes

HP:0011024: Abnormality of the gastrointestinal tract
Genes 2032
SMC1A FUS WHCR COL13A1 CTC1 MYO5B SYNJ1 COL1A1 COL5A1 TCF4 PTS REPS1 RRM2B C12ORF65 CFC1 CHRND EFL1 SDHC SETD5 SMO OCRL FOXP3 PACS1 PMS2 PNKD RET PTPN3 SETBP1 KY FCGR2C GLUD2 ASXL1 USP9X RAD51C MAFB KIF7 RECQL4 MAP2K1 PTCH2 ERAP1 POLG TP53 TGFB3 TSPAN7 PIEZO1 CLMP NFIX NDUFA6 PRKCG CTRC CHAMP1 EIF2AK3 EFEMP2 GLI2 ACTA1 MAPT GP9 VAMP1 TNFSF12 PITX2 KIAA0556 SMG9 ND3 XRCC2 ACOX1 CDKN2B ACTA1 DNM1 SOX10 ATXN3 MLH1 ACTA1 POLG RPL10 VAMP1 ERLIN2 CHRND TIMM8A NHP2 OPTN NFKB1 F13B FBLN5 TRNS1 H19 MSH3 TEK MNX1 MLH3 CDK4 SDHC VPS13A SLC9A6 SSR4 ZIC2 ACVRL1 MFF ANKRD11 SQSTM1 APC USP9X DNMT3B TPM2 UPF3B PAK3 HLA-DPA1 CHCHD10 GATA6 SDHB MAPT GBA2 ARL13B GCH1 MSH2 SLC25A13 AKR1D1 TOP3A BAAT CHEK2 FOXF1 STAT1 CYP7B1 SEMA3D ASPA AMACR GP1BB APC CCDC22 SLC52A2 SPG7 CTNS SOX2 BRCA1 RERE ZBTB24 RFWD3 NDUFS2 ASXL1 COL7A1 JAK2 MPI HMBS AGTR2 UROD F12 DKC1 ITGB3 ND5 PEX3 ACADVL PRPS1 GPC3 AGRN FTL XRCC1 UBA5 ERCC2 CAV1 RPGRIP1L ADAT3 MYC DMD CEP57 LMAN1 NUS1 FGF20 SDHB ALDH18A1 JAK2 EXT2 NTHL1 MEGF10 ACOX2 CCR6 MTOR DEAF1 MYLK KBTBD13 MAPT PANK2 HDAC8 LEMD3 TRAPPC12 COG4 SPINK5 BRCA2 DDHD2 F13A1 GLI3 GFI1B GPC3 RARB PIEZO2 MAPK1 KIFBP NSUN2 PHKG2 NBN PLXND1 STAT3 FAT4 PEX1 EOGT PHGDH SYT1 MKKS CDC6 EDN3 TANGO2 RET SCN4A ZFP57 GDNF COL7A1 AKT1 MUTYH ARMC9 SDHB CYP27A1 GABRA2 TERT SALL4 APC OSGEP ALDH18A1 PAX3 ITGA2 USP7 SLC2A2 LPIN2 SMC3 RB1 TBCE VAMP1 CD3G GLRA1 H19 PSEN1 NDUFAF3 MECP2 WNK1 TWIST2 RBM10 SRCAP PIK3CA LMNB1 KIFBP SHROOM4 SLC46A1 CHRM3 TXN2 TBX4 UBE2T SETX COL7A1 TPM3 SLC9A3 FLAD1 SMAD4 F10 ZSWIM6 SH3KBP1 CD79B PIGO LMNA FREM1 SLC9A7 ABCB1 FBN2 FUZ ASCL1 JUP GREB1L FAH KIT RIPK4 GDNF GATA6 ALG13 MRPS34 TRAPPC11 ARF1 DHCR24 RFX5 KLHL40 HNF1A KEAP1 CHD7 SLC52A3 TERC RRM2B EDNRB MITF PIK3C2A STAT6 SH2B1 C19ORF12 FGFR1 ARNT2 HTRA2 SLC19A2 IRF1 SEC23B PYROXD1 PARN SETD5 MGMT RPL10 DLX4 GP9 TCF3 NRXN1 MYO9A MECP2 HLA-B NOTCH2 GRIP1 DACT1 BUB1B MC1R ARID2 BRAF GAS1 MBTPS2 SOX10 PLG PARN SRC TRAPPC11 GDNF TPM2 TRMT10C RFXANK CAV1 SLC25A24 BMPR1A CASP8 DHCR7 TSPYL1 HNF1A ST3GAL5 RNASEH1 GRM1 TRIP13 IL23R MTTP PMS1 RFXAP KCNA2 ACTA1 ATXN1 FLNA ADNP FANCA MSH6 TTBK2 RRM2B TMPRSS6 POU6F2 APC SON PIK3CA FANCM ATP6V1A RET ARHGAP31 RBM8A FBXO7 HELLS EPCAM MEN1 TERT UBA5 HESX1 FA2H TRIP13 ZAP70 UBR1 CDKL5 AKT1 APC MYF6 NXN TBK1 RASGRP1 PPP2R3C MYORG MRE11 TCF4 ND5 IL10RA LRP2 HLA-B GTF2I DLC1 IRF5 KCNJ11 SYNGAP1 BTNL2 SLX4 OPA1 CYBA TP63 RAD21 KLHL7 DKC1 ORC4 VANGL1 ARPC1B PPP2R5D TCOF1 PCSK1 SRCAP CTNNB1 PLG PTCHD1 VWF USP27X ATXN3 PGAP2 WDR26 FANCI PYCR1 LYST TP53 UPB1 MUTYH ANTXR2 MMP1 PDX1 TANGO2 ATXN8OS KIF5A FIG4 BMPR1A WWOX RPL10 ERLIN2 CIITA SI GPC3 TPM3 PEX16 FOXG1 CYP7B1 PALLD VAMP1 PLCG2 GATA6 OSGEP ZNF711 TRNE PARS2 TTC7A FLNA OTX2 FARSB DDHD2 VAPB ARL3 NONO MED12 HNF4A NUP107 MLH3 SPG11 TMEM231 FMR1 AHI1 CHN1 CBLIF MYOD1 SEMA3E RERE CCN2 KLHL40 LAGE3 WT1 SRP54 ABCC8 DYNC2H1 ATRX GPC4 ALS2 IGHM ATP1A3 PHOX2B FGF12 BCR SPINK1 SDHD DDX59 IL6 MAP3K7 GABRD CTBP1 NOTCH1 ATP8B1 LAMC2 ADH1C PEX12 MKS1 IRAK1 EDN3 HCFC1 SACS DAXX TBK1 MST1 SLC6A9 TGFBR2 EXOC6B TCTN1 TNFSF12 FTL DOK7 TCF4 ITGB4 APC TRIM28 DNAJC21 MED17 NECTIN1 NAB2 RECQL4 KRAS CLCN4 EDN3 FLNA MVK C12ORF65 PIK3R5 FAM13A SFTPC CDKN1C TYMP KRAS GDAP2 PALB2 MED12 TK2 TMEM67 TEK RYR1 NHP2 MCM6 FGF8 IL1RAPL1 TDGF1 SNRPB QDPR CDCA7 CACNA1A IGH RET CAMTA1 SOX10 PGAP3 F8 CACNA1G ATP6 TRNQ LONP1 SIN3A PAX4 COL7A1 FGFR2 VPS35 PAK1 CC2D2A MDM2 SNCA NEK1 PQBP1 WAS ATXN3 CHMP2B CFTR KDM6A TGFBR1 FANCE ICOS RFX6 IL12A LIG4 KIF23 PARK7 HLA-DRB1 MKS1 CACNA1G DMP1 COQ4 ADA2 SMC1A GMPPA MLH1 GFI1 RET RNF125 COX7B FANCD2 SOX2 ACTB DYNC2H1 NEK1 DDX59 PALB2 GLA IL1B DSP TERT FOXE1 MAP1B IQSEC2 WDR73 ABL1 STXBP1 RFWD3 DLG1 NEUROG3 ND1 ERLIN2 TGM6 FXN CDKN1B NEK9 TNFRSF13B FANCL FRAS1 SPG21 ND6 WDR73 HIVEP2 SKI UBTF EXT2 SLC5A7 STAG1 FLT1 COMT GBA ACTB ATXN8 WASHC5 NAA10 WAS AK2 TRMT5 TMTC3 SOX10 TGFBR2 L1CAM MYO1H POLG PIGY CARS2 DDOST CHEK2 COX1 LIPA SQSTM1 AHI1 REST BMPR1A ACTG2 SIX3 ND4 PCNA SDHD SEC23B ZNF423 OPLAH FKRP CHRNA1 CNKSR2 PRKRA FANCB HMBS PTPN22 RAI1 HYOU1 HPGD C1QA ELN SLC25A1 CYP27A1 RPS6KA3 USF3 CAV1 ARV1 BUB3 H19-ICR AP2S1 FUS CCN2 CCR1 MTMR14 MAD2L2 EMC1 TMEM237 MSX1 PSPH FOXP3 CD19 TRNV WASHC5 SLC18A3 KIT HMGA2 CLCN1 AARS1 CEP57 TREX1 WNT4 WIPF1 SLC25A13 PEX12 TERC CHMP1A TGFB1 HTT CDKN2A GJB2 MET F5 BUB1 CTLA4 CDKN2C GPC1 GLMN HNF1B HLA-B BRCA1 SF3B4 FLCN SLC6A3 TNFAIP3 JAK3 PRKCD CDKL5 SUFU ABCD4 NGLY1 SNCAIP ATXN7 IRF2BPL COLQ PIGT L1CAM ARHGEF6 PEX26 GLRB POLR1D TK2 SIN3A CARMIL2 PITX2 WFS1 CISD2 LRRC8A LIMK1 SNCA WNT2B IRF6 SERPING1 TBL2 TWNK PMPCA TGIF1 POLR3B WDR4 CDC45 ENPP1 DGAT1 TWIST1 MEIS2 CPLANE1 STRA6 YY1 FCGR2A FBXL4 AFF4 SCN4A KIAA0586 FKTN SOX2 GREM1 RTEL1 NEUROD2 MMP1 ALG3 TP53 SLC6A8 ARNT2 HIRA ARSA EXOSC9 REV3L CCBE1 APP ELANE SLC35A2 COL18A1 RAD21 GDI1 DGUOK KMT2D ATXN2 POLG EDN3 SEC63 CHD4 PIGO NBN FANCF PLA2G6 DACT1 TP63 PLVAP FAS SIX1 TP53 HLA-DPB1 MATR3 PTRH2 ELN GNA11 RLIM TMEM138 SLC35A2 PANK2 RFXANK IRF5 ITGB4 ALS2 POLR1C KCNJ11 SCN3A DPP9 DNMT3B PIK3CA NLRC4 ASCC1 PTDSS1 IGF2R MPZ HNRNPU BTK TRNL1 EPCAM NDUFA9 FLNA ERGIC1 ATRX PRKCSH F9 PIK3R1 COL3A1 CHST14 ALS2 GRIN2D ECE1 NDUFAF2 GUCY2C KLF6 IQSEC2 SAA1 SPG7 CEP120 ATRX NEXMIF GJB6 ATM TNXB RTEL1 IRX5 GDF2 PMS2 HBB PUS3 PIGV GP1BB SALL4 LETM1 PNP COMP TRIM28 DCTN1 RAD51C CDC73 IL21 MYMK PIGL PIK3CA CEP120 KLHL41 FH HNF4A BCOR SLC30A2 MYD88 ABCA3 JAG1 TMEM70 NPM1 IKZF1 SCN9A PHKA2 DICER1 GNAQ CDH11 NOD2 LRRK2 WNT3 DNAJB6 FLVCR1 ZEB2 B3GALT6 TNXB PABPN1 MLXIPL COL13A1 VAC14 NEB SIK1 GUCY1A1 AP1S1 TRIP4 FGFR2 ECM1 TGFBR2 ALDOB KCNQ1OT1 POGZ TBP ARX PACS1 CAVIN1 PPARG ELP1 BAZ1B FRG1 IL12B TPRKB CHRNG TGFBR2 SCN8A ABCC6 IDH1 CPLX1 BCL10 KRAS HPCA SPP1 CYBB PTEN PMP22 CCND1 NOP10 MSH2 MUC5B GPHN NEXMIF PDP1 JAK2 MMEL1 MBTPS2 SYT2 IGHM MPI EDNRB POGZ RAB39B SYT1 GRIN2D MSX1 SCN3A LBR SPIB NIPBL SYNJ1 CISD2 TET2 PTPRJ MECP2 MPL GTF2IRD1 CREBBP MSR1 GP1BA PRKAR1A MID2 CSPP1 MYOT ATP7A PORCN IDH2 MYO5B ADAMTS3 CXORF56 MLX GATA1 TCTN3 SMAD7 NUP133 MAP2K2 SKIV2L TWNK TTC37 GBA KCNB1 CACNA1A SIX6 SPART TP53 SCN4A DOCK6 RBPJ RNF43 HSD3B7 VPS33A CTRC TRNL1 TGFB1 ANTXR2 STN1 TP53 TINF2 LINGO1 PHOX2B CR2 C11ORF95 PIEZO2 ABCB11 DSE KRT8 ZMPSTE24 LMOD1 GBA TOP3A AGA RPS20 GLIS3 BMPR1A BMPR1A ALDH18A1 CHST14 TRNK TBX1 SLC19A3 PEX11B EPCAM B2M ND1 MAP2K2 GRHL2 ELP1 INS SLC6A5 HBB MEN1 HFE COX2 EYA1 KRT18 MID1 PAX3 HABP2 CORIN CD81 ATXN3 MYH11 LRRK2 TP63 NCF2 H19 SDHD SH2B1 TBC1D23 NBN COG8 ACTG2 EDNRB DCC SPINK5 TJP2 GJB1 HRAS FCSK WDR60 DNM2 LCT CBS SNAI2 ACTG2 LMX1B NDUFB8 COX7B LAMB3 ERBB2 ADCY6 CEP41 FGG MEFV NCAPG2 INPP5E PIGN CDKN1A CCBE1 TMEM216 ACSL4 HMGA2 DCLRE1C AP1S1 SMC3 KANSL1 FGFR1 FREM1 F5 FGA FBN1 SOX5 CENPF UBQLN2 POLG2 SEC24C TSC1 FLNA NUP62 C1R B3GLCT NF1 POMT1 BRCA2 POLG ADAMTS3 PIGN HLA-DRB1 SLCO2A1 FREM1 HCN1 MMP21 APC SDHB LMNA ACVRL1 LMOD3 DIS3L2 PIGA VARS1 COL5A2 RET KIAA0319L FGFR2 CCR6 BMP2 MKKS APC IL1RN MITF LTBP4 FGFR1 TERT PSAP ERCC4 DLEC1 TSPYL1 LRP2 CLMP ARX BRCA2 SZT2 SBDS BRCA1 VPS13A MSH6 HFE TREM2 POLR3A SLC1A4 NPC1 DISP1 PEX5 ERCC4 SLC25A13 FIG4 HPS1 LARGE1 MTTP ELN ITGA6 YWHAG PTEN DCTN4 FBLN5 PEX10 AR RIPK1 DNAJC6 CHRM3 AXIN2 SNAP25 MUSK RAD51 HGSNAT SALL4 NONO KIAA0586 SLC2A10 AFG3L2 RREB1 TWNK ASAH1 REEP1 RPGRIP1L TARDBP FANCC PGM3 SMO EBF3 GYS2 KLLN POMT2 STXBP1 G6PC F11 RAI1 ABCC2 HLA-DRB1 DLL1 EPHX1 WRN SBDS OTC GP1BB EFL1 COX4I2 NOP56 ATP13A2 CYFIP2 CDKN2B DIS3L2 RAD51C ABCC6 NRTN FRMPD4 POLA1 CYBC1 HYLS1 SP110 UBR1 CASP10 C1R PRTN3 MSH2 RECQL4 SALL4 IL2RB RAC2 ITGA6 ATP7B PNLIP PDGFRL CCND1 STUB1 AXIN2 XYLT1 HOXD13 ENG CHAT CD109 IRGM CEL ZNF81 SLCO1B3 SETX NEFH FRAS1 TRNF ACTL6B TRAK1 PTEN SMPD1 MITF SDHC CLTC PRDM16 ATXN10 FLI1 STK11 COLQ ITCH CNTNAP2 FOXG1 SKI DHODH PKHD1 CHAT SYT14 CC2D2A CTCF ADD3 GLI3 ATRX SCO2 BAP1 ND4 SLC29A3 CD3E RELA UCHL1 B4GALNT1 ARFGEF2 SFTPA2 LBR DDC SRP54 SRP54 SMAD3 EPRS1 AKR1D1 KITLG PEX16 WWOX RERE BACH2 UBB MSH3 TYROBP ABCC6 WNT7A BIN1 FANCL PEX14 ATRX WFS1 POLE DDOST PIGW MYCN DDIT3 PMS1 KCNK9 SERPING1 NSD2 MNX1 GABRB2 POU2AF1 F7 SERPING1 CLIP2 QDPR CACNA1A GFPT1 CAVIN1 RFXAP NRXN1 MUTYH ACD MEOX1 NDUFS3 GNAS GNS CHRNA1 ATXN8 ARX NDUFB11 DACT1 MATR3 POLG2 SHH TUBB4A FOXH1 ATP11A SNAI2 CRYAB TNFRSF13C CEP120 ATAD1 TBC1D24 PROKR2 MAP3K7 UBAC2 POLG NOTCH2 USB1 TSC2 TMEM67 EDN3 UBE3B HSD3B7 RMRP PRSS1 KCNQ1 SCN4A COQ2 HLA-B NGLY1 DNAJC13 NTNG1 BCOR NCF1 ROR2 ACD SLC6A8 ERMARD TGFB2 INTU LIFR ATN1 FGA PIGV ITGB2 B9D1 KRAS NFKBIA LRP12 RNASEH1 POLG PLEC APC ITGB4 USP9X PIGN SDHA XIAP PPP3CA SMAD4 COL7A1 GMPPA BRCA2 DLL4 MYPN DSP SDHB NUP214 RMRP SDHC DNAJB6 MGME1 SLC39A4 TRNW CHEK2 RPL11 EMC1 IL2RA SLC37A4 ATXN8OS STUB1 ARID1B KMT2A SAMD9 TRNH ATP1A3 ATXN7 AXIN2 RPS19 GPR35 TBX1 GDF6 ATP6 TFAP2A AP3B2 HCCS PRKCD NEB JAK2 IFNGR1 TBX3 RAPSN FLVCR1 SCARB2 SEMA3C FMR1 AKT1 CCDC47 TBX3 TCIRG1 KAT6A TIMM8A NEFH PTCH1 AP1B1 SERPINA1 FAN1 CDC73 IRF5 FAS FERMT1 CYP7B1 ADAM17 APC CTC1 PLEC NTRK2 VAC14 NPHP3 MDM2 CFTR MYH8 KCND3 XRCC4 SOX3 PLA2G4A BDNF KLF11 ADAR RPS6KA3 IGLL1 CRKL GABBR2 FREM2 VCP POLG ENG PRSS1 TBP NECAP1 PTCH1 SMC1A MACF1 TARDBP MEFV SPG7 DKK1 NCF4 RELA CTHRC1 ATP7A PLA2G6 PEX13 POLR3A CLCA4 JAK3 ABCB4 TNFSF15 CEP104 APPL1 ARHGAP29 PEX6 YARS2 BSCL2 AHCY RAD51D SOX10 SKI IL12A MCOLN1 WT1 FASLG RSPO2 FOXF1 STOX1 PHOX2B BUB1 SOD1 PLAA ENG SDHD CTNNB1 CNTNAP1 HSPA9 ORC1 COG7 THOC6 MYH7 POLR3A VPS13C TRNL1 SLC2A10 KCNA2 GPIHBP1 STS FGFR3 IL12A-AS1 CDH1 WFS1 MYH3 GPC4 SMAD4 RAD50 SUFU MKS1 IL10RB AMER1 GRHL3 HDAC8 RHBDF2 PEX2 BRAF NEB SETBP1 KMT2A ORC6 MASP2 SLC5A7 ASCL1 KRAS ZFYVE26 DCHS1 NEDD4L POLD1 DVL3 STN1 SLC52A3 PTEN SEMA4A UFD1 RARS1 PODXL SMAD4 LRBA FLNB B3GLCT FGFRL1 FGFR2 DNAJC21 ITGA2B FOS EDN3 SERPINH1 DGUOK BRCA2 NFKB2 SNCA NOP10 NDUFB11 JMJD1C FGB PALB2 FAT4 TTC7A ITGA2B C9ORF72 C2CD3 HPRT1 GABRA5 SLC18A3 RAD21 SLC25A22 REEP1 RTTN TK2 CDK4 NCF1 RAD51 EWSR1 AAAS GIGYF2 INHBA FARS2 PEX19 PORCN SEMA3E FGB ZIC3 NEB HYMAI TAF1 NPHP3 IRF6 LBR TNPO3 SLC25A4 CHRNE LRP5 DPYS SYT14 HOXB1 MLH1 SDHC LAMB2 WDR34 SLC52A2 SPECC1L LAMA3 FLCN TRAPPC12 KLHL41 TCF4 GDNF SPG21 STAT4 CTNNB1 STK11 CSPP1 EP300 FGFR2 FGG ASCC1 AMACR GMNN SYP ND2 CDH1 LAMA2 ATXN2 ADAMTS2 GBA FAT4 ZNF41 BLM CDKN2A TNFRSF1A MTM1 SNCA POLD1 ISL1 TPM3 FGFR3 MSH2 TUBB4A NUP88 SLC6A19 ABCC8 PITX2 AGGF1 NALCN PTS SALL4 CDH1 CDKN1B ATXN1 KIT FGFR2 LMNB1 UBTF TECPR2 PPP2R5D MECR TGFB1 PSAP BMPR1A CYBB FANCB STAC3 RNF43 AICDA TERF2IP NDUFS1 SLC6A3 ACTA2 CHRNE HLA-DRB1 ITGA8 MSH6 EIF4G1 WRAP53 PANK2 STXBP1 RFC2 PDGFRA KIT ATP2A2 CEP41 SPINT2 CFTR ZIC3 CCNQ IDS F2 ND6 NOTCH3 TUBB6 FOXC1 INPP5E PIEZO2 EP300 XYLT2 TRNW DLL4 NODAL DOCK8 PFN1 MBTPS2 PHOX2B PRPH ZFPM2 SPINK1 LIPA PAH KLRC4 ALS2 TMEM237 SLC30A10 MYOT POLE NECTIN1 PLAGL1 KCNAB2 PRKN CHD7 BRAF AGPAT2 ENPP1 POLG KIT PPM1D FGFR2 LAMB3 SHANK3 SLC37A4 SLC1A2 MCFD2 CEP290 KIF1A MAPT ALDH18A1 TAF1 SHPK SLCO1B1 DNM1L EP300 SPRTN WNT3 PIBF1 TCTN2 GNAO1 COL14A1 RHBDF2 DAB1 TWNK RETREG1 RYR1 CTNND1 CNTNAP1 HNRNPH2 WT1 NCF2 RAI1 AFF4 LIG4 SURF1 MAPT SELENON TRIP4 GDF3 ITGB3 SHANK3 BBS1 STAG1 ATP1A3 NPHP1 CD79A EFTUD2 CDH1 BRIP1 TWIST2 SLC5A1 IGF2 NIPBL PDGFRA PRKRA BLNK ALG8 PCGF2 MEN1 BRIP1 RNF6 DHCR7 BUB1B RET CNKSR2 POLR3B ACTA1 DYSF AFG3L2 SLC10A2 GCK NOTCH1 KCNK9 NCF4 SMAD4 STAT1 TTC37 TAF1 IL12RB1 CAMK2B C4A TNFRSF13B NR4A2 EDNRB POT1 INPP5E MINPP1 PTPN22 TRNK ATP7A CIITA CLCN4 MAGEL2 STX1A EHMT1 BARD1 IGF2 LIPA MYO9A EEF1A2 FLII TMEM237 PKD1 NOP56 SKIV2L PRNP SFTPA1 CXCR4 SAR1B RTEL1 POLG SLC46A1 CACNA1B DLG3 CD55 TPM3 GBE1 CCDC28B TJP2 TLR4 PLP1 PIK3CA NPC2 FANCB COG4 SDHB CCND1 IL10 ITGB3 EDNRB NALCN NOTCH3 SAR1B F5 PTEN GEMIN4 CASP10 EXTL3 MCEE MAPT STAT4 NPHS1 PLEC ARVCF FTSJ1 RAD51 GBA COX3 ZAP70 AAAS PDGFRB PLAA NUP62 CCNQ PHOX2B TYMP COL5A1 PTF1A IARS2 SEC23A COG6 PIK3CA SLC7A7 CYBA LAMC2 HFE RFX5 MS4A1 PUF60 DHDDS DMPK AIRE TRNS2 HRAS HDAC4 FANCG WDR35 KLHL7 AXIN1 EDNRB FLCN BLK NRAS SLC9A6 RRM2B IFT80 AAGAB GABRG2 ATXN8OS FAH BMP4 ITGA2B CDH11 NEUROD1 PINK1 MLH1 FANCB PSTPIP1 SLC13A5 KLHL41 GP1BB KAT6B MYRF SLC52A3 STX3 DCHS1 TTC7A ECE1 HCCS MECP2 APC PRSS2 PLOD1 SALL1 KAT6B GP1BA PANK2 LAMA3 FAS PDE8B SALL1 TP53RK TBCD FREM1 CDON MECP2 GP1BA CHCHD10 CD96 KCNC3 SNAI2 MED12 VANGL1 CDKN2A
Protein Mutations 1
C10D
SNP 1
rs738409
HP:0003003: Colon cancer
Genes 59
APC PIK3CA KRAS PALB2 MLH1 TP53 HABP2 FOXE1 BMPR1A APC NTHL1 BUB3 EPCAM SMAD7 KRAS AAGAB BMPR1A TRIP13 FAN1 MSH2 MLH1 PMS2 APC APC BUB1B MSH6 APC SMAD4 PALLD BUB1 MLH1 BRCA2 MSH2 CEP57 APC TGFBR2 APC MINPP1 SMAD4 SH3KBP1 CDKN2A BMPR1A PMS1 MLH3 MSH3 MSH2 GREM1 MSH2 RPS19 AXIN2 TP53 MLH1 MSH6 MUTYH COL14A1 BRCA1 FLCN PMS1 PRKAR1A
Protein Mutations 9
A1298C C10D C677T I1370K P13K R451C S492R V600E V600K
SNP 2
rs18011131 rs1801133
HP:0100743: Neoplasm of the rectum
Genes 46
POLD1 KIT PIK3CA MLH1 KIT MSH2 SEMA4A MUTYH BMPR1A TGFBR2 USF3 SMAD4 SDHB NTHL1 RPS20 PIK3CA EPCAM SEC23B BMPR1A SDHB KRAS PDGFRA PMS1 MLH3 FAN1 POLD1 MSH3 POLE STK11 DICER1 SDHD GREM1 RNF43 AKT1 KLLN SDHA PMS2 PTEN SDHC AXIN2 SDHC BMPR1A ENG MSH6 KEAP1 POLE
Protein Mutations 5
C10D R451C S492R S9304A V600E
SNP 0
HP:0002242: Abnormal intestine morphology
Genes 879
MID2 WHCR CTC1 PORCN MYO5B MYO5B COL5A1 ADAMTS3 CXORF56 GATA1 TCF4 TCTN3 SMAD7 SKIV2L TTC37 C12ORF65 CFC1 RNF43 HSD3B7 EFL1 CTRC TRNL1 SDHC SETD5 TGFB1 ANTXR2 SMO OCRL TP53 TINF2 FOXP3 PACS1 PMS2 PHOX2B RET ABCB11 DSE SETBP1 ZMPSTE24 LMOD1 ASXL1 USP9X KIF7 AGA PTCH2 ERAP1 RPS20 BMPR1A BMPR1A CHST14 TP53 TSPAN7 TBX1 PEX11B PIEZO1 EPCAM B2M CLMP ND1 COX2 EYA1 EIF2AK3 EFEMP2 GLI2 PAX3 HABP2 MYH11 TP63 NCF2 KIAA0556 XRCC2 COG8 ACTG2 EDNRB DCC SPINK5 LCT SNAI2 ACTG2 SOX10 COX7B MLH1 CEP41 MEFV PIGN CCBE1 TMEM216 ACSL4 HMGA2 F13B FBLN5 TRNS1 AP1S1 FREM1 F5 TEK CENPF MNX1 SEC24C MLH3 FLNA SDHC ADAMTS3 HLA-DRB1 ZIC2 SLCO2A1 MMP21 DNMT3B APC SDHB UPF3B PAK3 HLA-DPA1 ACVRL1 GATA6 SDHB ARL13B RET MSH2 AKR1D1 MKKS APC LTBP4 FGFR1 BAAT ERCC4 LRP2 CLMP ARX FOXF1 BRCA2 STAT1 SBDS VPS13A SEMA3D MSH6 AMACR APC CCDC22 DISP1 PEX5 BRCA1 ZBTB24 RFWD3 HPS1 MTTP ASXL1 ELN JAK2 MPI HMBS AGTR2 PTEN DCTN4 F12 DKC1 ND5 PEX3 FBLN5 GPC3 PEX10 RIPK1 ERCC2 AXIN2 MUSK RPGRIP1L MYC DMD CEP57 FGF20 KIAA0586 NTHL1 RREB1 ACOX2 TWNK CCR6 MTOR FANCC PGM3 MYLK SMO KLLN LEMD3 SPINK5 HLA-DRB1 DLL1 EPHX1 F13A1 SBDS GP1BB EFL1 COX4I2 RARB KIFBP DIS3L2 RAD51C NRTN NSUN2 FRMPD4 POLA1 CYBC1 STAT3 HYLS1 UBR1 PEX1 C1R PRTN3 MSH2 RECQL4 SALL4 IL2RB MKKS RAC2 EDN3 ITGA6 RET PNLIP ZFP57 AXIN2 GDNF AKT1 MUTYH ARMC9 IRGM ZNF81 TERT TRNF SALL4 PAX3 PTEN MITF SDHC PRDM16 FLI1 STK11 SLC2A2 ITCH LPIN2 SMC3 TBCE CD3G SKI DHODH RBM10 SRCAP KIFBP ATRX CHRM3 UBE2T SLC29A3 SLC9A3 SMAD4 SH3KBP1 CD79B SRP54 PIGO LMNA AKR1D1 KITLG RERE BACH2 MSH3 SLC9A7 ABCB1 FBN2 ASCL1 GREB1L FAH KIT GDNF GATA6 ALG13 FANCL DHCR24 PEX14 KEAP1 CHD7 POLE PIGW EDNRB MYCN PMS1 SERPING1 MITF NSD2 PIK3C2A SH2B1 MNX1 FGFR1 POU2AF1 SERPING1 CLIP2 SEC23B SETD5 CAVIN1 RFXAP TCF3 HLA-B GNAS NOTCH2 DACT1 BUB1B GAS1 MBTPS2 SOX10 PLG PARN SHH SRC GDNF FOXH1 SNAI2 RFXANK CAV1 BMPR1A UBAC2 DHCR7 POLG NOTCH2 USB1 IL23R MTTP EDN3 PMS1 UBE3B HSD3B7 RMRP HLA-B FLNA FANCA MSH6 TMPRSS6 BCOR NCF1 SLC6A8 APC PIK3CA FANCM RET PIGV RBM8A HELLS ITGB2 EPCAM B9D1 KRAS POLG TRIP13 ZAP70 UBR1 APC AKT1 PIGN SDHA APC XIAP RASGRP1 SMAD4 BRCA2 SDHB RMRP SDHC IL10RA LRP2 GTF2I SLC39A4 DLC1 TRNW IL2RA ARID1B SLX4 TRNH CYBA VANGL1 AXIN2 ARPC1B TCOF1 RPS19 GPR35 TBX1 TFAP2A HCCS PRKCD PCSK1 SRCAP PLG PTCHD1 USP27X RAPSN PGAP2 FANCI TP53 MUTYH SEMA3C AKT1 CCDC47 KAT6A PTCH1 AP1B1 BMPR1A FAN1 IRF5 FAS FERMT1 CYP7B1 CIITA SI ADAM17 PEX16 APC PALLD PLCG2 GATA6 ZNF711 TRNE CTC1 TTC7A FARSB NPHP3 CFTR ARL3 XRCC4 MED12 PLA2G4A BDNF MLH3 TMEM231 RPS6KA3 IGLL1 AHI1 CBLIF MYOD1 POLG RERE ENG PRSS1 PTCH1 MEFV NCF4 RELA ATP7A SRP54 PEX13 CLCA4 JAK3 ABCB4 TNFSF15 CEP104 PEX6 PHOX2B SDHD DDX59 IL6 SOX10 MAP3K7 IL12A GABRD WT1 FASLG FOXF1 CTBP1 ATP8B1 PHOX2B BUB1 PEX12 ENG SDHD CTNNB1 MKS1 EDN3 HCFC1 MST1 TRNL1 GPIHBP1 FGFR3 EXOC6B IL12A-AS1 WFS1 TCTN1 GPC4 SMAD4 SUFU MKS1 IL10RB AMER1 HDAC8 DOK7 PEX2 TCF4 APC DNAJC21 KMT2A MASP2 ASCL1 RECQL4 EDN3 MVK POLD1 C12ORF65 TYMP KRAS PTEN PALB2 SEMA4A MED12 TMEM67 TEK UFD1 NHP2 MCM6 FGF8 SMAD4 IL1RAPL1 LRBA TDGF1 FLNB B3GLCT FGFRL1 FGFR2 CDCA7 DNAJC21 RET SOX10 EDN3 PGAP3 TRNQ LONP1 SIN3A NDUFB11 JMJD1C FGFR2 PALB2 FAT4 CC2D2A MDM2 TTC7A WAS SLC18A3 CFTR KDM6A FANCE RAD21 RFX6 IL12A LIG4 RTTN NCF1 MKS1 RAD51 EWSR1 INHBA DMP1 PEX19 PORCN SEMA3E SMC1A HYMAI MLH1 NPHP3 RET FANCD2 LBR TNPO3 DYNC2H1 NEK1 DDX59 GLA MLH1 FOXE1 FLCN IQSEC2 ABL1 TCF4 RFWD3 GDNF NEUROG3 STAT4 CTNNB1 FRAS1 STK11 CSPP1 EP300 AMACR SYP COMT NAA10 WAS AK2 TRMT5 SOX10 TGFBR2 L1CAM MYO1H FAT4 ZNF41 POLG PIGY TNFRSF1A POLD1 CHEK2 COX1 LIPA ISL1 MSH2 NUP88 AHI1 SLC6A19 ABCC8 BMPR1A ACTG2 SIX3 ND4 SEC23B SALL4 ZNF423 OPLAH PTPN22 KIT HYOU1 HPGD ELN CYP27A1 TGFB1 BMPR1A RPS6KA3 USF3 CYBB BUB3 RNF43 CCN2 ACTA2 CCR1 MAD2L2 TMEM237 ITGA8 MSH6 FOXP3 WASHC5 KIT WRAP53 CEP57 RFC2 PDGFRA KIT WNT4 WIPF1 CEP41 SPINT2 PEX12 TERC CFTR TGFB1 CDKN2A GJB2 IDS BUB1 ND6 CTLA4 INPP5E EP300 GPC1 BRCA1 SF3B4 FLCN TNFAIP3 NODAL JAK3 DOCK8 MBTPS2 PHOX2B ZFPM2 SPINK1 LIPA SUFU KLRC4 TMEM237 L1CAM ARHGEF6 POLE PEX26 PLAGL1 POLR1D KCNAB2 CARMIL2 POLG CISD2 LRRC8A KIT LIMK1 WNT2B SERPING1 TBL2 PMPCA TGIF1 CEP290 CDC45 ENPP1 ALDH18A1 DGAT1 SHPK CPLANE1 STRA6 EP300 FCGR2A PIBF1 GREM1 TCTN2 ALG3 TP53 COL14A1 SLC6A8 RHBDF2 TWNK HIRA NCF2 LIG4 CCBE1 RAD21 GDI1 BBS1 KMT2D NPHP1 CD79A EDN3 BRIP1 SLC5A1 PIGO NIPBL FANCF PDGFRA BLNK ALG8 DACT1 PLVAP FAS SIX1 DHCR7 BUB1B RET HLA-DPB1 CNKSR2 SLC10A2 PTRH2 ELN TMEM138 NCF4 SMAD4 STAT1 TTC37 IL12RB1 IRF5 ITGB4 C4A EDNRB INPP5E MINPP1 POLR1C TRNK KCNJ11 CLCN4 DNMT3B PIK3CA NLRC4 STX1A HNRNPU BTK EPCAM TMEM237 PKD1 FLNA ERGIC1 SKIV2L CXCR4 PIK3R1 SAR1B RTEL1 COL3A1 CHST14 SLC46A1 DLG3 CD55 CCDC28B ECE1 TJP2 TLR4 PIK3CA GUCY2C SDHB SAA1 CEP120 CCND1 IL10 GJB6 EDNRB NOTCH3 SAR1B RTEL1 GDF2 PMS2 HBB PIGV CASP10 SALL4 LETM1 COMP RAD51C ARVCF FTSJ1 IL21 COX3 PIGL ZAP70 PIK3CA PDGFRB CEP120 CCNQ PHOX2B BCOR TYMP SLC30A2 MYD88 PTF1A NPM1 COG6 DICER1 SLC7A7 CYBA NOD2 RFX5 ZEB2 AIRE B3GALT6 TRNS2 MLXIPL FANCG KLHL7 AP1S1 TGFBR2 EDNRB ARX NRAS RRM2B AAGAB BAZ1B MLH1 FANCB CPLX1 KRAS MYRF CYBB STX3 PTEN TTC7A NOP10 MSH2 ECE1 APC PRSS2 MMEL1 MBTPS2 SALL1 IGHM MPI EDNRB FAS RAB39B SALL1 LBR SPIB CDON MECP2 NIPBL PTPRJ GTF2IRD1 SNAI2 CREBBP MED12 CDKN2A PRKAR1A
Protein Mutations 1
C10D
SNP 8
rs1217414 rs12760457 rs1310182 rs2097432 rs2476601 rs2488457 rs33996649 rs3789604
HP:0100834: Neoplasm of the large intestine
Genes 122
APC PIK3CA DOCK8 MLH1 FOXE1 PTEN APC FLCN SDHB TCF4 PIK3CA EPCAM SMAD7 SDHB KRAS CCND1 TRIP13 APC POLE STK11 SDHD RNF43 MSH2 AKT1 SDHA PMS2 APC APC SDHC SMAD4 BUB1 TP53 PMS2 CTNNB1 BRCA2 DLC1 MST1 MSH6 TGFBR2 PIK3CA APC SMAD4 FGFR3 SH3KBP1 RPS20 BMPR1A BMPR1A EP300 POLD1 CHEK2 MSH3 TP53 DICER1 GREM1 MSH2 AXIN2 RPS19 PTEN TP53 BMPR1A GPR35 KEAP1 COL14A1 POLE PMS1 POLD1 AXIN2 KRAS KIT PALB2 SEMA4A TP53 HABP2 MUTYH BMPR1A USF3 TGFBR2 AKT1 SMAD4 NTHL1 BUB3 SEC23B NRAS AAGAB BMPR1A PDGFRA FAN1 MLH1 KLLN BUB1B DCC MSH6 APC PALLD BUB1B MDM2 KIT MLH1 SRC MSH2 CEP57 APC BMPR1A MINPP1 CDKN2A PMS1 MLH3 BUB1 MSH2 MLH3 PTPRJ SDHC AXIN2 MLH1 ENG MSH6 MUTYH BRCA1 FLCN CDKN2A EPCAM PRKAR1A
Protein Mutations 16
C10D C377T G12A G12C G12D G12S G12V G13D I10A L858R P13K R451C S492R T1482I V600E V600K
SNP 1
rs603965
HP:0007378: Neoplasm of the gastrointestinal tract
Genes 342
DOCK8 CTHRC1 WT1 APC ABCC8 GPC4 PTEN TNFSF15 SMPD1 PRKCD SDHC APPL1 SUFU TCF4 STK11 SMAD7 TTC37 TP53 AHCY POLE H19 RAD51D SDHD RNF43 FASLG CC2D2A SDHC BUB1 PIK3CA TP53 BAP1 ENG SDHD PMS2 CTNNB1 CR2 C11ORF95 PTPN3 PIEZO2 ABCB11 SETBP1 SLC37A4 RELA DAXX MST1 RAD51C SMAD4 FGFR3 PTCH2 SH3KBP1 RPS20 BMPR1A TNFSF12 BMPR1A SMAD4 RAD50 WWOX EP300 SPRTN MSH3 RHBDF2 TP53 FAH GREM1 APC TRIM28 SETBP1 TP53 HNF1A KEAP1 COL14A1 RHBDF2 POLE INS HBB MEN1 NAB2 PMS1 WT1 HFE KRAS EDN3 POLD1 ARSA STAT6 CDKN1C KRAS PTEN PALB2 SEMA4A HABP2 CD81 POU2AF1 TNFSF12 SMAD4 CDH1 IRF1 SEC23B MGMT H19 SDHD IGF2 PDGFRA RET MUTYH NBN MEN1 BRCA2 FAS BRIP1 NFKB2 GNAS RNF6 EDNRB BUB1B CDKN2B DCC TJP2 TP53 PAX4 BUB1B MC1R GCK MDM2 ERBB2 SMAD4 MLH1 STAT1 SRC IL12RB1 IRF5 TNFRSF13C TNFRSF13B ICOS BMPR1A CASP8 INPP5E RAD21 NFKB1 CDKN1A POT1 MINPP1 HNF1A IL12A H19 TRIP13 TMEM67 PMS1 MSH3 PIK3CA KCNQ1 ASCC1 IGF2R BARD1 MLH3 CDK4 SDHC IGF2 MLH1 MSH6 BRCA2 POU6F2 EPCAM ACD TNPO3 APC ATRX PIK3CA SKIV2L PALB2 IL1B MLH1 APC SDHC FOXE1 APC FLCN SDHB PIK3CA EPCAM MEN1 KLF6 TERT SDHB KRAS GDNF LMNA ACVRL1 CTNNB1 CDKN1B CCND1 TRIP13 SDHB DIS3L2 APC STK11 MSH2 AKT1 SLC25A13 BMP2 SDHA GDF2 F5 PMS2 APC APC PTEN IL1RN HBB MITF RASGRP1 CASP10 SMAD4 MRE11 COMP DLEC1 TRIM28 SDHB CHEK2 SDHC BRCA2 BRCA1 SEMA3D DLC1 CHEK2 MSH6 TGFBR2 PIK3CA HFE APC SLC37A4 BLM CDKN2A FH KCNJ11 SLC25A13 JAG1 POLD1 CHEK2 PHKA2 DICER1 PIK3CA HFE MSH2 REST AXIN2 HMBS MS4A1 RPS19 PTEN UROD BMPR1A GPR35 PRKCD JAK2 SDHD SEC23B CTNNB1 CDKN1B AXIN2 HMBS KIT RAD51 TP53 MUTYH SDHB AXIN1 SEMA3C PSAP FGFR2 BMPR1A USF3 TGFBR2 AKT1 PDX1 NTHL1 BUB3 H19-ICR KCNQ1OT1 BLK RPGRIP1L RNF43 NRAS MTOR AAGAB BMPR1A TERF2IP SERPINA1 FAH FAN1 NEUROD1 TGFBR2 MLH1 KLLN GPC3 MSH6 APC G6PC PALLD BCL10 CD19 WRN PTEN KIT GPC3 MSH2 ECE1 CEP57 TREX1 CDKN2B APC PDGFRA KIT MMEL1 NRTN PHKG2 CDKN2A HNF4A KLF11 FAS MET MLH3 BUB1 CASP10 CDKN2C MSH2 SPIB ATP7B PDGFRL PTPRJ AXIN2 AKT1 ENG MUTYH BRCA1 FLCN PTCH1 CEL CDKN2A SDHB MSR1 PRKAR1A
Protein Mutations 5
C10D G12D G12V G34A V600E
SNP 2
rs2231137 rs3114018
HP:0002664: Neoplasm
Genes 1489
WHCR ATP7A PHOX2B KRT17 IL2RG HMGA2 PORCN KRAS TET2 IDH2 FLT3 ERCC4 AR BRCA1 BRCA2 GATA1 TCF4 TCTN3 GPR101 SMAD7 KRT6B PIK3CA KCNJ10 MAP2K2 REST TTC37 MC2R TRPS1 SIX6 ALX4 PIK3CA BRAF TP53 STK11 TSR2 EXT2 EDN1 RNF43 TRNL1 ATM SDHC EXT1 BCL10 BAP1 NF1 OCRL TP53 CHD7 TINF2 ERCC6 NF1 MAFA PMS2 ASXL1 PHOX2B CTNNB1 CR2 RET TCTN3 C11ORF95 PTPN3 PIEZO2 ABCB11 SETBP1 PDCD10 LRP5 LMOD1 MALT1 ASXL1 LZTR1 TINF2 RAD51C RECQL4 MAP2K1 FOXO1 PTCH2 RPS20 FLI1 BMPR1A SMARCAD1 BMPR1A MAP3K8 DNASE1L3 SUFU TP53 FOXP1 PTCH1 PDGFRB ND1 PIK3CA ZSWIM6 SETD2 INS NRAS HBB MEN1 AIP CLCNKB RPS10 HFE COX2 TSC2 DHH CTRC MEN1 EYA1 BRCA1 GINS1 MSH3 GLI2 TRNS1 HABP2 SSX1 SUFU PRKN CD81 TNFSF12 MYH11 KIT VEGFC WWOX H19 SDHD FGF3 TNFRSF1B RMRP XRCC2 HRAS MTM1 EPHB2 PLCD1 NBN CDKN1B TUBB RECQL4 EDNRB VHL ACAN MSH6 CDKN2B DCC TJP2 HRAS CDKN2A VHL REST NKX2-1 ANTXR1 RPL35 DNM2 FGFR3 SNAI2 NLRP1 ACTG2 GNB1 EWSR1 CBFB NSD1 FLCN ERBB2 MLH1 H19 EIF2AK4 RPL10 TMEM107 TRNK RAD54L RAD51C INPP5E NFKB1 CDKN1A KDM6B F13B SLC26A2 TRNS1 RPL26 CYLD H19 PTEN PTPN11 DCLRE1C MPL FLCN NEK1 MITF MSH3 NUTM1 IL7 STAT3 TRNS2 TG ERCC3 MNX1 NRAS MLH3 TSC1 GLI3 CDK4 SDHC NF1 BRCA2 CIB1 ATRX BRCA2 ADAMTS3 ZFPM2 COL2A1 TET2 ZIC2 SLCO2A1 BLM GJA1 MAP3K1 PIK3CA SDHA RTEL1 CDK4 KCNH1 SH2B3 APC ESCO2 FANCC TERT USP9X APC RAD54B NF2 SDHB RPS14 PPP2R1B RPS19 RPL35A MSH2 WRAP53 RASA1 LMNA ACVRL1 POLH SDHB DIS3L2 PIGA GNPTAB CXCR4 MSH2 SLC25A13 BMP2 NNT PSENEN FOXI1 APC IL1RN MITF ACD PTEN MPL RUNX1 ERCC3 ERCC4 DLEC1 CHEK2 BRCA2 JAK2 SBDS BRCA1 SDHD SEMA3D MSH6 HFE TREM2 APC CCDC22 MINPP1 DISP1 FAM20C MAP2K1 ALK BRCA1 STIM1 SLC25A13 RFWD3 HRAS GLI1 TET2 DVL3 COL7A1 HMBS TFAP2A ICOS CALR PTEN UROD DKC1 FDPS LIG4 TXNRD2 SRSF2 ND5 SDHD CHEK2 NRAS BCL6 GPC3 XPC MEN1 ERCC2 AXIN2 MYC RAD51 GBA KIF1B SDHB EXT2 EXT2 NTHL1 SRY RPGRIP1L MPL MTOR CASP8 RB1CC1 IGF2 FANCC ERCC4 WRN PGM3 VHL ING1 PLAG1 WT1 MYLK KLLN PIK3CA G6PC RPS7 MCM4 ANTXR1 POLH BRCA2 DLL1 OGG1 WRN F13A1 SBDS EFL1 TAF15 GLI3 GPC3 KRAS CDKN2B MAPK1 DIS3L2 GPR101 NRTN DKC1 KLLN NSUN2 MAP3K1 ERBB2 PHKG2 SRGAP1 CYLD NBN ALK MAX WT1 ACTB PALB2 TBX18 FIBP CASP10 DVL1 TYR MSH2 RECQL4 PIGL EDN3 WT1 ATP7B RPL27 RET USP8 FGFR2 PDGFRL H19 CCND1 ATM AXIN2 COL7A1 AKT1 TERT MUTYH HOXD13 DICER1 THPO GDF5 CEL SDHB EXT2 SRP72 TERT TRNF TP53 LIN28B APC NPM1 FGFR3 PTEN SMPD1 SLC22A18 SDHC PRDM16 KIT STK11 RPL11 LETM1 CALR SDHC RB1 PIK3CA PLCB4 COL4A5 CASP8 SKI H19 COL1A1 CC2D2A CASP10 GCGR GLI3 PIK3CA RPS29 RSPO1 PTEN MYSM1 BAP1 SRY UBE2T BRCA1 USP8 COL7A1 RNASEH2B KIF1B MN1 RELA SMAD4 VHL SH3KBP1 BCR CD79B SRP54 SRP54 SSX2 CHRNG RPL18 NF1 WWOX RERE LZTS1 WT1 MSH3 TYROBP ASCL1 IKBKG ABCC6 FAH KIT GDNF FANCE TERT BIN1 FANCL KIF11 SDHB WDPCP SLC6A17 TP53 HNF1A KEAP1 POLE HSPA9 SMO PTCH2 PTCH1 PMS1 ELMO2 BCL2 NSD2 EXT1 SRD5A3 STAT6 MVD TERC SF3B1 MNX1 FGFR1 CYSLTR2 POU2AF1 SMARCB1 NOD2 GJB2 SDHC FLT4 KRT9 CDH1 IRF1 SEC23B MYCN MGMT RPL10 RPL5 KIF7 TCF3 KRAS MUTYH TMEM127 KRAS IGH CTSC GNAS CD28 WWOX HNF1A BUB1B MC1R WNT10A CBL WT1 BRAF ADAR GAS1 GTF2E2 SMARCB1 RPS17 PARN TMEM127 BRIP1 SHH SRC GNAI3 STAR GDNF SLC22A18 FOXH1 SNAI2 GPC4 TNFRSF13C KARS1 TBC1D24 BMPR1A TET2 CD27 CASP8 DHCR7 KDSR HNF1A SH3GL1 PNP USB1 TSC2 TRIP13 TMEM67 EDN3 PMS1 PTPN11 GNA11 CREB1 ADA RAG2 PRSS1 KCNQ1 GPR101 PRF1 MTAP FANCA MSH6 TRNQ BRCA2 KRT1 RNASEL POU6F2 ACD SCN9A APC NSD2 INTU BRAF POU6F2 BRCA2 RB1 GTF2H5 PIK3CA FANCM TARS1 BRAF CASR RET VHL GPR143 TRNP GCM2 TMEM231 CPLANE1 RPS15A SOX9 GFI1B EPCAM MEN1 TERT KRAS SDHAF2 NF1 TRIP13 GATA2 SLC26A4 APC MPLKIP SAMD9L IL6 GNAS IGH AKT1 FANCD2 ESR1 SDHA APC MYF6 RASGRP1 SMAD4 MLLT10 LIG4 CPLANE1 BRCA2 MC1R MRE11 DLST SUFU LMO1 SDHB ABCA5 RMRP SDHC NUP214 AKT1 SMARCD2 DLC1 C1S TRNW THPO CHEK2 KIT SLC37A4 BCHE KCNJ11 ARID1B APC2 SAMD9 TMC6 SLX4 TNFRSF13B FGFR1 TRNH RAD21 KCNN3 DKC1 VANGL1 AXIN2 TCOF1 RPS19 SLC26A2 GPR35 CR2 TFAP2A KRAS FGFR3 PRKCD JAK2 EGFR AIP CTNNB1 KCNJ10 FANCI LYST TET2 SLC25A11 TP53 TCTN3 MUTYH ANTXR2 SEMA3C MMP1 AKT1 PDX1 JAK2 TCIRG1 PTCH1 MUC5B EXT1 DNMT3A BMPR1A SERPINA1 FAN1 CDC73 PTCH2 PIK3CA H19 FERMT1 GPC3 RET RET APC PALLD LPP BRD4 GNAS BMPR1B MAPRE2 DICER1 CTC1 TAL1 DICER1 STK11 HRAS GATA1 BCL10 KCNE3 XRCC4 HNF4A BDNF KLF11 SF3B1 MLH3 GNAQ TRPV3 IGLL1 PAX7 CRKL GDNF GATA2 ARL6IP6 ENG PTCH1 NEK9 TSC1 RNF139 ERCC3 PDGFRA IL2RG CTHRC1 WT1 BAP1 ATP7A SRP54 ABCC8 ESCO2 GPC4 OFD1 TNFSF15 APPL1 RNF6 CTSA TNFRSF1B TP53 PHOX2B DCLRE1C DDB2 BCL10 BCR KRT14 ALX3 EVC2 CD70 SMARCB1 AHCY SDHAF2 RAD51D SPINK1 SDHD ATM GABRD WT1 FASLG CTBP1 NOTCH1 NF2 DPM1 ERCC6 STS PHOX2B BUB1 FLT4 L2HGDH LAMC2 NTHL1 STAG3 ENG SDHD CTNNB1 DAXX NRAS MST1 MSTO1 SLC26A4 RAF1 STS FGFR3 EXOC6B VAMP7 NELFA HRAS ANTXR2 LEMD3 TNFSF12 GPC4 MLH1 SMAD4 RAD50 SUFU TRIP13 REST GNAS CBL RHBDF2 ASXL1 SMAD4 TCF4 ERCC6 WT1 BRAF APC TRIM28 TERT DNAJC21 RPL15 PAX3 SETBP1 CDH1 GNAS SMARCB1 AKT1 ASCL1 KRAS NAB2 ERCC5 RECQL4 KRAS DNMT3A EDN3 POLD1 FAM149B1 CDKN1C KRAS TP53 SMARCE1 PTEN PALB2 SEMA4A TEK NBN NHP2 GPC3 ETV6 FGF8 COL11A2 SMAD4 RNASEH2A NRAS MC1R TDGF1 FGFRL1 FGFR1 CTNNB1 IGH DNAJC21 CCND1 RET DIS3L2 DHCR24 CARD14 BRCA2 SQSTM1 NFKB2 TRNQ NDP SFTPA2 PAX4 COL7A1 TP53 RSPRY1 IFNG HMMR PALB2 FAT4 MBTPS2 MDM2 KRAS GNAS C2CD3 POT1 ABL1 WNT5A FANCE ABL1 ICOS SDHD RAD21 NSD1 SOS1 IL12A LIG4 PIK3CA TBXT RAD51 EWSR1 FZD2 FLNA BRCA2 NRAS TWIST1 TET2 TSC1 INHBA CAT CTNNB1 PIGL IRF1 PTCH2 TRNH MLH1 GFI1 CDC73 RET FANCD2 EVC NF2 TNPO3 SOX2 DYNC2H1 HRAS NEK1 CCND1 KRT10 AKT1 KIT PALB2 VHL CYLD IL1B GJC2 MLH1 SDHC FGFR2 CYP2A6 FOXE1 ARMC5 ERCC2 SLC25A11 LAMA3 FLCN BRCA1 BIRC3 MVK TOP2A PDGFB TCF4 RFWD3 ATP6V1B2 GDNF GATA4 CTNNB1 CDKN1B C2CD3 BRCA2 FUZ STK11 AKT1 FGFR2 SHOX TGFBR1 BTK LEMD3 FIBP SF3B1 SUFU PRLR NR5A1 FN1 ERBB2 CD19 RNR1 PTPN11 KIT RAD51 WAS PTEN TGFBR2 RPS24 CYLD RNF113A MYO1H ALX3 JAK2 BLM CTNNB1 CDKN2A PARN SH2B3 POLD1 CHEK2 COX1 KRT1 EXT1 BRAF PRCC MSH2 GATA2 REST NRAS RB1 TINF2 BMPR1A NR4A3 AGGF1 SIX3 RAG1 ND4 COL2A1 CDKN2A SDHD TREX1 WNT10A SEC23B XPA MET TP53 CDKN1B RPS27 PCNA HMBS RPS26 KIT FGFR2 TRIM37 HPGD ERCC5 PAX6 SLX4 PICALM PSAP FCN3 BMPR1A USF3 XPC DNAJC21 KRT16 BUB3 H19-ICR GPC6 STAC3 RPS28 FANCA RNF43 AP2S1 PDGFB DYNC2LI1 CYP11B1 ABCA5 PTCH1 TERF2IP KRAS DYNC2LI1 CDH1 CDC73 TERC SPRED1 PDGFB TRNF MTMR14 MAD2L2 FOXI1 ERCC2 GJB4 KAT6B MSH6 FASLG KRAS SEC23A RUNX1 CD19 WASHC5 KIT HLA-DRB1 WRAP53 FLT3 CEP57 KDR TREX1 TMEM216 PDGFRA ERCC3 KIT NOTCH3 WIPF1 TERC CTLA4 NQO2 CDKN2A RSPO1 STK4 PTPN11 GJB2 KRAS MET SPINK1 PDGFRB RHOH BUB1 ND6 CDKN2C TFE3 EP300 CHIC2 HNF1B NUMA1 BRCA1 SRY FLCN MLH3 SCN10A GNPTAB KRAS NODAL TGFBR2 PPM1D DOCK8 EPAS1 PHOX2B OCA2 KCNQ1OT1 CYP2D6 ITK DICER1 PRKCD ASPSCR1 SUFU IDH1 RUNX1 ATRX FOXC2 MFN2 SAMD9L SCN4A KIF1B DHH POLE VHL POLR1D KCNAB2 BRAF SLC12A3 CARMIL2 ENPP1 NRAS LRRC8A KIT SH2B3 MST1R CEBPA NRAS MRAP TP53 ND5 FH LAMB3 CALR SLC37A4 PERP KLHDC8B FH SFTPC TGIF1 CHEK2 SLC17A9 SLC22A18 TERT CDH23 MDH2 KRT17 PTEN FGFR3 RB1 YY1 ELANE EP300 SPRTN GJB3 XPA IDH2 MAGT1 ATR GNA14 OFD1 IL7R GREM1 ESCO2 HRAS PRKAR1A MMP1 TP53 KRT17 COL14A1 RHBDF2 MPL OFD1 RYR1 IFIH1 SCN11A IDH1 JAK2 WT1 TP53 ARSA LIG4 CCBE1 FANCG KCNH1 ELANE COL18A1 HACE1 NUP214 MYC CD79A AR CDH1 BRIP1 WT1 BCR BUB1B ERCC3 KRIT1 NBN IGF2 FANCF PDGFRA BLNK PCGF2 MSH6 MEN1 FAS BRIP1 PTH1R SIX1 RNF6 BRAF DHCR7 BMPER BUB1B TP53 RET CTLA4 HABP2 ARHGAP26 DLST GCK ERCC2 RAD54L POLE HSPG2 GNA11 ADA SMAD4 BCL10 RB1 STAT1 TAF1 RPS14 BCR IL12RB1 IRF5 TMC8 TNFRSF13B CYP26C1 CALR POT1 MINPP1 POLR1C CD28 ATP7A HNF1B ERCC2 ACVR1 RPL31 VANGL1 TP63 ERCC4 SLC45A2 OFD1 LMX1B PIK3CA ASCC1 TET2 IGF2R BARD1 TUBB IGF2 BTK MSTO1 CIB1 PHB CDKN2A TNFRSF10B KIAA0753 TBX2 FOXE1 EPCAM TNFRSF13C SLC26A2 ATRX MGAT2 SKIV2L CXCR4 PIK3R1 RTEL1 TSC1 HAX1 SDHB PRKAR1A DDB2 GFI1 CDH23 XRCC3 PMVK TP53 PIK3CA GJB2 NF2 KLF6 AR ZSWIM6 SDHB CDC73 PIK3CA CCND1 GJB6 ATM SOS1 NOTCH3 DDX41 TSC2 FLT4 FGFR3 RASA1 GDF2 F5 PMS2 PTEN HBB TSC2 CASP10 ADA2 AIP WT1 LETM1 PNP COMP TRIM28 TP53 PALB2 RAD51C CCL2 CDC73 SH2D1A COX3 ZAP70 PIK3CA CYP11B2 PDGFRB PTPN11 PHOX2B FH KIT HNF4A RNASEH2C MYD88 PDE6D JAG1 TYR SEC23A FH NPM1 PHKA2 DICER1 PIK3CA HFE GNAQ DMRT3 MS4A1 MYH8 VANGL2 SHOX PUF60 GATA2 BAP1 B3GALT6 TRNS2 HRAS HDAC4 FANCG SAMHD1 GATA2 LIG4 AXIN1 TNFRSF4 OPCML PRKN FGFR2 ECM1 TGFBR2 LMNA WDPCP KCNQ1OT1 BLK GCM2 ALX1 NRAS KIT AAGAB FAH MAX RARA NEUROD1 TGFBR2 MYD88 PHF21A IDH1 MLH1 FANCB CPLX1 SMARCA4 EXTL3 AIP TERT BCL10 XIAP IGF2 SASH1 PIK3R1 PTEN NAGS TMC6 NBEAL2 NOP10 JAK2 SDHB MSH2 ECE1 BARD1 APC PMS2 CCM2 JAK2 MMEL1 RET SDHA SDHD IGHM CACNA1S FAS NR0B1 POT1 SPIB TAL2 NF2 CDON WT1 TET2 PTPRJ CD96 TRNL1 DOCK8 DCC MPL GNAQ CREBBP CDKN2A TRNK MSR1 KRT5 PRKAR1A ERBB3
Protein Mutations 75
C10D C377T C677T C797S D816V D835V D842V E10A E17K E542K E545K F1174L F31I G12C G12D G12V G13D G156A G20210A G719A G719C H1047R H1112L H1112Y H1124D K652E L1213V L265P L858R L861Q M1149T M1268T P1009S P13K P1446A P286R P4503A Q12H Q21D R132C R132G R132H R132L R132S R132V R140L R140Q R140W R172G R172K R172M R172S R172W R988C T1010I T1191I T315I T790M V1110L V1206L V1238I V411L V57I V600D V600E V600K V600M V600R V617F V941L Y1248C Y1248D Y1248H Y1253D Y842C
SNP 8
rs1045642 rs11615 rs13181 rs1695 rs25487 rs34489327 rs34743033 rs619824