HP:0011024: Abnormality of the gastrointestinal tract

Genes 2267

RPS19 PRKRA ND4 SLC1A4 GRHL3 RSPH4A EDNRB LPIN2 MCM6 COG4 PGM3 FANCB LIPA FOXG1 PRNP LBR EEF1A2 IRF1 RHBDF2 NTRK1 GP1BB MAPT EXTL3 GDNF NDUFS1 SEC24C DKK1 PAH CDH11 SYNJ1 CHN1 CTRC ATXN2 PEX11B OFD1 BLK FGF20 WWOX NSD2 FBXL4 TRIP13 FTSJ1 SOX10 ADH1C FOXH1 MCC MAGEL2 GDAP2 MET NEB RAD51 TP53 GFI1B ERCC4 POLG FGB SMARCD1 HNRNPH2 ASXL1 LBR BRCA1 PSTPIP1 SEC31A MLH3 NECAP1 NUP62 SIN3A NSD1 ERCC2 TSC2 PLA2G6 SPINK5 FANCL DDOST STX3 EMC1 XYLT2 NEK1 FLNB VCP BRAF FBLN5 PAX7 MAP2K1 MAN2B1 ARSA TIMM8A PAX3 SEMA3E RASGRP1 TPM2 NEUROD2 TMEM67 FGFR2 LRRC56 SPOP DPYS DNAJC21 TRIP4 PTDSS1 MYF6 ACTG2 PEX19 PANK2 TERF2IP TNFRSF13C GLI3 RPL26 SBDS MGMT RERE KLLN ARNT2 FANCM SLC13A5 AXIN2 TNFAIP3 KIF7 FOXP3 MEFV MYCN TGFBR2 CIITA SLC2A10 UBR1 OSGEP EDNRB IARS1 ENG PDGFRL GLI2 DNAJB13 CACNA1A STAT6 FLT1 RNASEH1 TRAPPC12 NOTCH3 GAS1 ATXN8OS ANKRD11 SPG7 SURF1 HLA-DRB1 SIX6 JAG1 ARL13B EDNRB PALB2 VANGL1 SLC9A6 GBE1 SALL4 PNKD DGUOK FANCG RAD51C ATN1 TGIF1 MYO1H ELANE ND5 RPS19 H19-ICR PIGO SHH F8 ARHGAP31 IDH2 SPG21 CDON CDH1 NEDD4L SIX3 CYP27A1 MITF MST1 RAI1 LAMA2 PHGDH TRNV PDGFRB QDPR DNAAF4 FAT4 ORC4 ZIC2 HFE SDHD BMPR1A GABRG2 SQSTM1 ISL1 TNFRSF13B FGF8 SELENON POLR1D MYOT SFTPA1 SHH SKIV2L COL18A1 STXBP1 SON SLC25A22 GALC HMBS RET RRM2B ABCD4 MMEL1 IGF2R NODAL LRP12 SKI NOS1 BUB1B ERAP1 SMC1A AXIN2 ADD3 GAS1 STAC3 TRIP4 CIITA SLC25A13 PRTN3 PIGN NTRK2 TRNF PKHD1 TDGF1 TIMM22 DYRK1A FLCN UBE3B CHRNG LAMC2 DNM2 TSR2 IL12A ALDH18A1 POLG CDKN1A HCN1 DCTN4 IRF5 CCN2 ARL3 WNT7A DKC1 GMNN BAP1 APC ACD CHCHD10 ROR2 SIX3 CYP7B1 FANCB ZEB2 RPL10 KLF6 FRMPD4 NUP107 SMAD3 F2 CENPT APC REEP1 NRTN COL13A1 IRF9 ACSL4 BUB3 GAS8 WDR35 LIG4 MLH1 CCDC40 GNA11 DYNC2H1 PLEC NF2 SACS TGFB3 SDHD WT1 MRPS34 STAT1 POLR3B PHOX2B TMEM237 FBN1 NRXN1 PTPRJ GLUD2 HPRT1 ABL1 GP9 CDKL5 LMNA SLC35A2 PQBP1 TRNL1 PTS EDNRB ABCC6 PDGFRA VARS1 SETD5 SYNGAP1 PPP3CA NCF4 LRBA DRC1 FERMT1 SNCA COX7B PEX12 GDF2 DNAH5 CASP8 TBK1 PLG MAN2B1 FXN SNCA TP53 LAMC2 BMP4 GP9 KATNIP FANCD2 GBA PYGL HCCS IRF5 APPL1 UPF3B PIGV TRNQ RRM2B APC RFC2 NCF1 HPS1 IRF6 TDGF1 SEMA3C WAS PRKCG TANGO2 USP7 CDKN2A SEMA3E LRRC8A SHANK3 SLC35A2 DDX59 CCNO ZNF711 PHOX2B SOX2 RAD21 CDK8 APC CC2D2A JAK2 CLCN1 CENPF BUB1 RAD51 DKC1 CYBB RAD54B AFF4 FIG4 EPCAM SMG9 SLC6A8 REEP1 SRC CTNND1 ALDH18A1 TTC7A FOXH1 BMP2 EOGT DYSF FREM1 ND1 ITGA8 GPHN GLMN SRP54 MYD88 EIF4G1 ARF1 NPM1 PTEN PHOX2B TP53 SMAD4 MTTP SOX3 REV3L MLH1 WAC AIRE ITGA6 STRA6 NDUFB8 FGFR2 FANCC WFS1 DHCR7 ADAMTS2 PTCH1 MEN1 POLE MMP1 COLQ RPL27 CC2D2A F7 MGME1 ADAM17 CRYAB MID1 CLCN4 MED17 GPC3 PALLD ATXN10 GAS1 WASHC5 MDM2 INTU GALC POLR3B RERE ERLIN2 KBTBD13 TP53 MKS1 TARDBP LIFR SHH MEFV IL10RB ACVRL1 MPL FAT4 PRKRA DNAI2 DNAJB6 AKT1 NFIX NFKB2 DEAF1 DALRD3 XYLT1 PEX12 ITGA2B TAF1 FOXF1 SQSTM1 NALCN TNFRSF13B GRIP1 PIGW TGIF1 SMC3 RPS6KA3 NOP56 EYA1 APC2 CTNS TCTN3 FGFR1 PPOX F10 SLC52A3 PKHD1 MAPT ODC1 TPRKB IL12A KRT18 ASCC1 GLRB TDGF1 GUCY1A1 FARS2 TRNW RPL18 PHOX2B TGIF1 TBP NOTCH3 WDR4 EHMT1 RPGRIP1L TRNK CEP120 CYP7B1 DNMT3B SF3B4 MEOX1 CEP290 LMNB1 PCSK1 WDR26 CFC1 UBTF TANGO2 MSH6 SDHB RARS1 CISD2 TRIM28 AKR1D1 AP1B1 USB1 POLR3A SMC1A RSPH1 AKR1D1 TPM3 COL3A1 ALDOB RMRP DLL1 GNB5 MPZ SDHB NXN CEP57 GP1BB ENG SALL4 SEMA3D MINPP1 CASP10 PTPN22 NTHL1 COL7A1 LMOD1 HLA-DQA1 TERT GLIS3 POGZ F8 FOXH1 TRNL1 NOTCH2 NRXN1 CD81 NODAL DNAH9 DNAJC13 TBC1D23 RAB39B ANTXR2 F13B SCN8A NEB ORC6 C12ORF65 MECR WNT2B TYMP SNCA DSP KCNJ11 MLXIPL HLA-DRB1 CHMP1A SLC37A4 FGFR1 CCND1 CPLX1 SLC5A1 ITGB3 RYR1 ODAD4 FGF8 DMD CYBB STAG1 APC KRAS F9 ZFYVE26 SUFU DISP1 PEX13 GAS1 GPC3 CEL SCN4A TP63 ASCL1 FBLN5 ATP2A2 UFD1 CHEK2 FREM2 AAGAB LMNA CPLANE1 DLL1 POLD1 CARMIL2 EIF2AK3 APC L1CAM CCDC65 GABRB2 FAN1 DAB1 RAD21 FOXG1 G6PC MSH2 CYP7B1 MUC5B EDN3 EWSR1 SPRTN ACTG2 SDHC CDON SLC52A2 ADAR CD79A CFTR MED12 TMEM67 INPP5E CCBE1 USP9X LRP2 MATR3 RPGR TMTC3 FREM1 SPECC1L TTC37 KIF5A RLIM SNAI2 PIK3CD NBN PHOX2B BRAF CACNA1B VAMP1 TCTN1 FANCE PMP22 TJP2 RAD21 GPC4 SCN4A ARL6 SERPINH1 GLI2 NBN HIVEP2 MPI PEX26 DISP1 DNAAF5 BRIP1 POLG NF1 FUS TGFB2 FGF8 PSAP GABRA5 AP1S1 CHST14 WRN BCR POLG SERPINA1 ATAD1 DNAJB6 SRCAP PRPS1 DCX GP1BA TRNS2 NIPBL CEP41 MYO9A ARMC9 ANTXR2 TWIST1 TOP3A ZAP70 TK2 ATXN1 SYP MYRF GNAS ND1 BRCA2 ZEB2 NODAL NEK1 LETM1 CACNA1G USP9X KRAS LAMA3 INAVA APP MAFB BRCA1 ATXN3 PEX3 IL1B FMR1 PANK2 PLAA CD19 UBAC2 RETREG1 COX1 HNF4A CEP104 RAI1 LBR NGLY1 SAMD9 NME8 DDOST SUZ12 PEX1 SIK1 DGUOK RERE ALMS1 HDAC8 KCNQ2 SERPING1 IL21 PUF60 PTCH2 TYROBP FLVCR1 KRAS PROKR2 SNAI2 CSPP1 CCBE1 TSPYL1 PIK3CA FAH COLQ SLC6A9 CHEK2 IRAK1 AAAS STAG2 SOX10 TGM6 KIFBP ECE1 KCNQ3 HTT POLA1 FGFR2 SEC23B IRGM GATA6 CLTC ASAH1 ITGB4 NAB2 C1R PIBF1 TERT FOXC1 IRX5 BTK KCNB1 DCLRE1C CDKN2A FTL KNSTRN CBS CDON TCF3 RPL11 FLAD1 ZMPSTE24 MTM1 PACS1 PSEN1 DDIT3 TGFB1 STN1 IGF2 MEGF10 GABBR2 RIPK4 MYH7 PLA2G2A CCDC47 TCF4 SLC10A2 SLC25A1 MLH3 NOTCH1 AARS1 RRAS2 GPC4 HLA-DPA1 CHD7 RSPH3 PTS PEX16 EPRS1 DOCK8 GREM1 HPGD COX7B PIGN ND3 SMC1A SCN3A RIPK1 IDH1 B4GALNT1 SCN4A SUFU DDHD2 NPHS1 FOXF1 KLRC4 CCND1 DNAJC21 COG7 C9ORF72 WWOX TSC1 USP9X TRNK SMC1A MEN1 ASCL1 RNF43 AP2S1 JAK1 HMBS ADA2 RSPO2 CAVIN1 RNF43 RET CCR6 WASHC5 CHRNA1 HLA-B TP63 KRAS STAT4 SETD2 AMER1 VAMP1 TMEM216 TJP2 BMPR1A ZNF423 ARVCF NFKBIA ATRX NFKB1 PMS1 IQSEC2 MSR1 PGAP2 RECQL4 MSH2 MKS1 POGZ F12 GRM1 CACNA1A FUS JAK2 ATRX POLG KLHL7 RECQL4 NCF2 WHCR PLXND1 ALS2 MAP3K7 JAK2 CCDC103 SLC9A6 CEP120 CDCA7 CDKN2A RET AP3B2 CACNA1A CLCA4 AGGF1 MRPS28 MUTYH HRAS FGFR1 DNAH11 SAR1B FLNA FCGR2C ATXN3 TRIM28 CHEK2 RAC2 DLG3 CD79B KDM6A UBB HPCA ALDH18A1 NCF4 SLC25A13 BRCA2 BAX RPS6KA3 PPM1D MAP2K2 EDN3 MKKS EDN3 GLRA1 MCFD2 CAV1 IGH LRRK2 FGG MSH3 IL10 COX3 SMPD1 GJB1 SNAI2 NLRC4 ATP13A2 PAX4 PIK3C2A FGF8 SLC19A3 EP300 PIK3CA EFTUD2 NDUFB11 KIT VAC14 PLVAP NDUFS3 SH3KBP1 FOXH1 ATXN3 ITGB3 GRM7 SRP54 L1CAM TDGF1 IL2RA IARS2 STAT3 ERCC6 F11 SYT14 SLC30A10 PLA2G4A BAAT ZIC2 CHRM3 RAD51D ADCY6 GBA GREB1L NPHP3 CREBBP DHDDS OPTN WIPF1 NEXMIF PIK3CA MAP2K2 HNF4A FAS DYNC2I1 PANK2 TGIF1 FLNA OSGEP BBS1 HNRNPU PALB2 GTF2IRD1 DACT1 LAGE3 PNLIP ELN SLC5A7 CBLIF NUS1 KCNA2 CHAT MYLK EP300 TP53RK ADAT3 SMC3 STAG1 STAT4 SLC29A3 ADA2 ATXN8OS FOXE1 ITGB4 GBA TCOF1 MYH11 FBN2 VPS13A AGTR2 RTEL1 MAD2L2 SZT2 GDNF ALG13 RPGRIP1L EP300 RFWD3 SLC6A5 TLR4 LRRC6 PORCN STUB1 EDN3 PDGFRA NOP56 DICER1 MED12 DNAI1 PEX16 NEK9 CTBP1 TBCD ELANE CXCR4 RAD50 TNFRSF1A BRCA2 ERCC4 MYH8 CHRNA3 ATXN8OS C4A DCHS1 PDE8B ARHGAP29 KANSL1 MMP1 ALG8 FMR1 F13A1 ELN KLHL7 SLC9A7 ENG SETBP1 TET2 SDHC MVK TRAPPC11 FGFR2 TUBB4A LMOD3 ELP1 ERLIN2 SALL4 RRM2B POLR2A GFI1 MECP2 SLC46A1 DDC MCEE HOXB1 TBL2 STK11 RAD51 SLC7A7 MED12 CDKN2B WT1 SRCAP RET PDGFRL JAK3 DMPK ZNF81 NECTIN1 AICDA PLOD1 RPS28 PMS1 AKT1 PRDM16 IDS NBN GCK STAT1 DISP1 TRNE CDC45 KCNA2 ARX COL7A1 CD3E AXIN1 SHANK3 ECM1 LIMK1 CNKSR2 POLG SOX10 HLA-DRB1 EXT2 CFTR FGFR2 USP27X VANGL1 RAD51C HBB SYT1 PIGO ZBTB24 FGFR3 FANCI MITF ABCC6 SALL1 DNAAF2 NOTCH2 EMC1 ZIC3 DAXX EXOSC9 SYNJ1 SPG7 NPHP3 CAMK2B ATP1A3 NPC1 TNFSF15 VAMP1 HLA-DPB1 TTC7A UPB1 WFS1 TP63 PIEZO2 SLC25A24 CTNNB1 GPC1 SOX2 ACTB HELLS DNAAF6 MLH3 GJB6 BARD1 OCRL GPR35 MASP2 CHCHD10 PSPH LRP2 MYC FCSK TUBB6 MSH3 RMRP FCGR2A PRKCD ASPA NEUROD1 ATXN8 FLCN SDHC ATP8B1 CYBA CTLA4 STS CXORF56 MNX1 FOXH1 GABRA2 TCF4 THOC6 IL12RB1 PDX1 TRAK1 SDHC PITX2 GAS1 SMO STAG2 COL13A1 BCOR TRNH NEB PTPN22 SLC46A1 HGSNAT HLA-B COL5A2 RFWD3 GNAO1 RPL15 NODAL HNF1A NUP214 GATA1 EFEMP2 NCF1 RPS15A KMT2A IL2RB DISP1 KLHL40 WRAP53 RBM10 PPP1R12A FGFR2 PITX2 WNT3 COL1A1 PYGM SEC23A ABCC2 BLM ACTA1 POLD1 RPS27 FASLG DMPK SLC6A8 PTEN PLP1 CARS2 PTF1A TDGF1 PPP2R3C NPHP1 GDI1 C12ORF65 FGF8 CCDC39 STXBP1 LAMC2 DDX6 ZIC3 MSH6 SCARB2 NOP10 PAX3 NR4A2 PSAP ACD LARGE1 HABP2 IL6 WDR73 VAMP1 ITGB3 NIPBL ITGA2 HYOU1 APC TARDBP SRPX2 EGFR PITX2 ACOX1 ATP1A3 RPL10 TTBK2 SPINT2 PGM3 RTEL1 WAC STAG2 STXBP1 APC PLEC FLNA DNM1 FLI1 TCIRG1 SMAD4 SCN4A PTPN3 PIK3CA CAMTA1 CHD7 FGFR2 HLA-B SPINK5 TGFBR2 HNF1A PLAA RBM8A CHRND CD55 TTC37 LONP1 TOP3A KIT ABCA3 STK36 RFX5 DPP9 TMEM231 PALB2 NRAS ARV1 DLX4 FREM1 PEX6 TGFBR1 ZMYND10 RRM2B TIMM8A REST ZIC2 WARS2 PTEN CTCF CTLA4 SLC2A3 ZIC2 EFL1 ECE1 KCNC3 PIK3R5 ITGA2B GPC3 SLC9A3 KCNQ1 NDUFAF3 HMGA2 AGA NEUROG3 MAPT MFF FOXP3 HNF1B ASCC1 SPIB PTEN FANCB DMP1 DNM1L ENPP1 DNAH1 TNXB AKT1 KEAP1 INS ACADVL DISP1 PTCH1 CDKN1C LEMD3 TPM3 GLI2 GLI2 MCIDAS SLC6A3 EPCAM IVNS1ABP ATP1A3 NSUN2 JUP ATP7B CHST14 IL23R NDUFA6 PTPN12 CHRM3 CFAP300 SLC25A4 DHODH CTC1 ABCB1 DHCR7 BMPR1A CHD4 FAM13A POLR3A IFNGR1 STK11 OPLAH AK2 TBX3 CHAT ARX TUBB4A GNAQ MYCN KRAS HFE SH2B1 CD3G CYP27A1 SLC18A3 NODAL DACT1 TEK HOXD13 B3GALT6 RPL5 SLC39A4 KIF1A STAT5B GDNF RTTN SMAD4 CDK19 PEX10 COG4 RHBDF2 SPEF2 RREB1 CEP57 RAD51C MLX DLL4 CEP41 TBX1 PIGT RNASEH1 JAK2 GEMIN4 RFXAP GCH1 ERMARD SPG11 KIAA0586 CDH11 GPIHBP1 MAPT SPG7 ZSWIM6 FLNA RELA GCDH KLHL41 NUP88 AFF4 SPG21 KAT6B SMAD4 TBP RPS7 MMP21 PTRH2 EDN3 PIGL SPP1 SOD1 ZFPM2 REPS1 KAT6B MUTYH CISD2 BRIP1 PTCH1 NUP133 GDNF AR IGLL1 PRKCD PTCH1 POMT1 TXN2 SLC18A3 CHRNE PORCN TK2 MACF1 SLCO2A1 CHRNE FAH RAI1 XIAP PI4KA BRCA2 ARID2 HDAC8 EPCAM CDC6 TDGF1 DVL3 MATR3 ABCB4 UBA5 BMPR1A ATM SHROOM4 COL5A1 ATRX POLG2 GDF6 SERPING1 SOX2 TGIF1 UBR1 POLG2 ACTA1 PIGN ERLIN2 BCOR CSPP1 TERT ARFGEF2 IKZF1 UBE2T MUSK GFPT1 VPS51 HCCS BDNF HMGA2 TTC7A LTBP4 SKI RPS20 RUNX1 TTC12 DCC MSH2 RPS24 WT1 INPP5E FKTN NDUFS2 TFAP2A RPL35 SLC2A10 RPS17 COMT ITGA6 INPP5E CDC73 NEB SBDS MYH3 BRAF PIGV SETX LAMB3 PIEZO2 MAPT KCNQ1OT1 PTCH1 UBA5 PHKA2 POU2AF1 FOXH1 CCDC28B TREM2 GP1BB VAPB ABCC8 MBTPS2 FLII PHKG2 SALL1 ARPC1B SP110 TCTN2 MUTYH STN1 FANCA NEFH ATXN3 POLG RPL31 DLL1 WNT4 HFE CCN2 SHH RET DLC1 SDHB EP300 SOX10 ATP7A MSH6 ALS2 C2CD3 FGFR1 SIN3A HLA-DQB1 SRP54 CCNQ TINF2 BUB1 CACNA1G SMAD4 SHPK POMT2 DHCR24 ARID1B WAS NEK10 MAPK1 PABPN1 MYOT SOX5 ATP6V1A PQBP1 BIN1 PSTPIP1 COL7A1 SYT2 TWIST2 ACTB DOCK6 EDN3 QDPR PIK3CA IGF2 H19-ICR B3GLCT DLL1 CCR1 MYCN SAR1B COQ2 COX4I2 ERGIC1 FH HIRA TNFSF12 PIK3R1 RELA MITF F5 GMPPA EPHX1 CTNNB1 KIAA0319L TLR2 TGFB1 CDKN1B LIPA SSR4 COQ4 TPM3 PRPH ARX DACT1 MKS1 HLA-DRB1 PYCR1 SH2B1 ZIC2 TBX3 NONO FAT4 MID2 COL5A1 PRKAR1A ZNF41 MSH2 POLG DLL4 UBTF ERCC8 CTHRC1 GBA2 COL7A1 NUP62 FANCB FTL SIX3 SALL4 SDHC GJB2 LIG4 ACTL6B MDM2 LAMA3 MYO5B MTOR ALS2 CDON DGAT1 KAT6A ALG3 TAF1 SERPING1 SYT1 BMPR1A PAK1 SI TWIST2 LRP5 RNF125 TPM2 PTEN DYNC2I2 CTNNB1 SNRPB SLX4 KY ACTA1 FGF8 HCFC1 PKD1 XRCC4 TRIP13 CDC73 MECP2 ELN CFTR NOTCH3 NECTIN1 KMT2D DIS3L2 PPP2R5D SYT14 SLC44A1 TRNL1 KLHL41 WNT3 RYR1 JMJD1C ODAD1 CREBBP CCR6 HYLS1 SETX COX2 BRCA2 KIAA0586 SIX3 ORC1 GTF2I POT1 ABCB11 AURKA VWF DCTN1 IRF2BPL KIF3B ATXN8 MFF SETD5 ATP6 TWNK TAF1 IGHM LAMB2 EDNRB KLHL41 TCF4 NALCN MBTPS2 GATA1 OTX2 DOK7 SCN3A MPI VPS33A GDF3 RET OTC SEC23B APC PEX2 TET2 SETBP1 PMS2 DSP POLR1C SIX3 CYFIP2 FKRP GLA AP1S1 ACTA1 HYDIN RPL35A RET FGG SHH MNX1 MECP2 DSE ND6 PSAP HLA-B TRMT10C KIT RFX6 B3GLCT ATXN2 MYORG CPOX ITCH SPAG1 LMNB1 TSPYL1 TWNK FREM1 DLL1 ATXN7 SLC2A2 SAA1 ARHGEF6 TEK ABCC6 CHMP2B SLC19A2 TRNS1 CDON KLHL40 NCAPG2 COL14A1 CLMP YY1 RPL11 LINGO1 AHI1 MSX1 MECP2 FGFR1 CREBBP NDUFAF2 TBX4 RFXANK OPA1 RARB GBA HBB MBTPS2 ERBB2 FGB GATA6 WFS1 ND4 CDKL5 TBCE GBA NDUFA9 NAA10 ATP7A F5 FAS DCHS1 TSPAN7 FLVCR1 PLCG2 GRIN2D MS4A1 SPINK1 UBQLN2 ATP11A PUS3 PYROXD1 KIT NEFH MYOD1 VAC14 BUB1B ATRX LIPA TRAPPC11 TBK1 FOXJ1 CDH1 ITGB2 TWNK RPL10 ATP7A LCT CYBC1 CNTNAP2 JAK3 CD109 XRCC1 ZC4H2 PCGF2 CHRND SLC1A2 IRF5 PTCH1 DLL1 LMX1B ASAH1 TK2 GAS1 CNTNAP1 FGA DYNC2H1 FRAS1 TCF4 NEU1 HESX1 GP1BA FANCL BTNL2 NEXMIF PGAP3 NOP10 PLEC RPS29 KIF23 MECP2 TGIF1 PLA2G6 TYMP PTCHD1 HSPA9 TECPR2 PIGA MEIS2 FIG4 CDK4 ACVRL1 POLG DDX59 MSL3 FBXO7 GP1BB CAV1 MAP3K7 MAPT PIGY KLF11 FARSB SNCAIP SALL4 PACS1 GLI2 AHI1 FUZ PEX14 SRP54 TNFSF12 IGHM CRKL IL10RA SCN9A BCL10 RPS26 GLI3 SDHA RBPJ AFG3L2 TRMT5 DNAL1 FLNA RB1 MLH1 GMPPA KIT SPART GIGYF2 AXIN2 POLR3A HSD3B7 DYRK1A IL12A-AS1 RECQL4 EXOC6B MKKS CDKN1B KIFBP GRHL2 TP53 PFN1 DDHD2 PAK3 ACTG2 SDHB ITGB4 FA2H RNF6 ZAP70 TMEM138 ADNP DNMT3B PERCC1 COL7A1 SLC5A7 SCO2 CFAP221 C11ORF95 GP1BA CD96 PANK2 KCND3 MCOLN1 NEPRO SMAD7 SLC52A3 PRSS1 CLIP2 FANCF SFTPC POR PRKCSH ODC1 CEP120 BAZ1B GYS2 DNAAF3 GAS2L2 MTTP TPM3 IL1RN STOX1 ICOS SIX3 EBF3 XRCC2 CDKN2C SLC6A3 STX1A SIX1 ATRX FGF12 EP300 GRIN2D POU6F2 SFTPA2 ITGA2B ATXN7 DLG1 MIR17HG B9D1 CDON ADGRG1 ASXL1 CDKN2B B2M NHP2 KMT2A AMACR CCDC22 MAGEL2 TBC1D24 INSR PARN MAP1B NPC2 PARS2 BLNK DIS3L2 MED12L CORIN PDP1 TNXB MYPN ZIC2 FGA ALDH18A1 AHCY GUCY2C ACOX1 PRSS2 ALS2 NONO IFT80 EXT2 CLMP CLCN4 MEN1 MYMK PARN VPS35 NOD2 TP53 NUTM2B-AS1 CDK4 ACTA1 HBB GABRD TGFBR2 APC BRCA1 KCNAB2 CRLF1 USF3 RAPSN NOTCH1 H19 HDAC4 AMACR UROD ND5 PTCH1 LAMB3 NCF2 CR2 HRAS CDH1 TNPO3 F5 AGRN RFXANK SDHD MEFV ODAD3 NDUFB11 CYBC1 SNAP25 SHH HSD3B7 FIG4 WNK1 TREX1 ELP1 POLE TWNK ASXL1 GLI2 SLC25A13 PNP TMPRSS6 BACH2 SRSF2 SDHB FOXG1 FGFR3 GATA6 CASP10 CTC1 KITLG TBX1 RFX5 ENPP1 PIK3CA FAS AFG3L2 BMPR1A CCNQ CNTNAP1 SLC6A19 SKI COG6 TERC CBL ADAMTS3 EDNRB YWHAG COG8 KCNK9 ODAD2 DVL3 TGFBR2 SOX10 CNKSR2 TMEM237 CDH1 SEMA4A SLC37A4 VPS13A NGLY1 ACOX2 PIEZO2 CYBA PPP2R5D PIEZO1 SDHB STUB1 TERT NHP2 SEC63 FRG1 DZIP1L TRNW RTEL1 PEX5 SDHD CCND1 PCNA KRT8 FRAS1 MLH1 ITCH YARS2 WDR73 FLCN DLEC1 ADAMTS3 ND6 MYO9A MYO5B DNAAF1 ATXN1 TGFB1 TMEM237 FGFRL1 IL1RAPL1 RFXAP KCNK9 MTMR14 ND2 POLG IL12B CREBBP HTT APC DISP1 CHAMP1 TERT AAAS MC1R RPS10 NTNG1 KDM3B NODAL PLG ADAM17 ATP6 ARNT2 SMO CHRNA1 MRE11 RSPH9 TERC CFAP298 ACTA2 SKIV2L IQSEC2 C19ORF12 IRF6 TRAPPC12 GNAS PMS2 MSX1 LMAN1 ZEB2 EFL1 GNS

Protein Mutations 2

C10D V30M

SNP 1

rs738409

HP:0003003: Colon cancer

Genes 64

TGFBR2 SH3KBP1 MLH1 APC SMAD4 MLH3 MLH1 FLCN COL14A1 FAN1 CDKN2A BUB1B PRKAR1A MSH6 MSH2 MSH2 MLH1 MSH6 AXIN2 PALLD BRCA2 HABP2 MSH2 BUB1 MDM2 BRCA1 PALB2 RPS19 APC CEP57 APC EPCAM PMS1 SMAD4 KRAS SMAD7 MSH2 PIK3CA FOXE1 TRIP13 APC DMPK TP53 BMPR1A TP53 TP53 PMS2 PMS1 APC MUTYH MLH1 BMPR1A APC CHEK2 KRAS AAGAB BMPR1A GREM1 APC MINPP1 MSH3 CDKN2A BUB3 NTHL1

Protein Mutations 9

A1298C C10D C677T I1370K P13K R451C S492R V600E V600K

SNP 2

rs18011131 rs1801133

HP:0100743: Neoplasm of the rectum

Genes 50

TGFBR2 POLD1 PIK3CA MLH1 MLH3 SDHD POLE FAN1 DICER1 SEC23B MUTYH MSH2 POLE MSH6 AXIN2 RPS20 SDHC SDHC MDM2 SMAD4 ENG RNF43 SDHB BMPR1A AKT1 KEAP1 BMPR1A EPCAM PMS1 STK11 PDGFRA PIK3CA KIT PTEN BMPR1A SEMA4A KIT TP53 PMS2 SDHB POLD1 KLLN CHEK2 USF3 KRAS GREM1 SDHA MSH3 CDKN2A NTHL1

Protein Mutations 5

C10D R451C S492R S9304A V600E

HP:0002242: Abnormal intestine morphology

Genes 999

CDC45 RPS19 RSPH4A EDNRB ARX LPIN2 MCM6 PGM3 LIMK1 CNKSR2 SOX10 HLA-DRB1 LIPA CFTR USP27X LBR VANGL1 RHBDF2 PIGO ZBTB24 GP1BB FANCI SALL1 GDNF DNAAF2 NOTCH2 SEC24C NPHP3 TNFSF15 CTRC HLA-DPB1 TTC7A PEX11B OFD1 FGF20 NSD2 CTNNB1 GPC1 TRIP13 FTSJ1 SOX10 HELLS DNAAF6 MLH3 MCC GJB6 OCRL GPR35 MASP2 RAD51 LRP2 ERCC4 MYC ASXL1 LBR MSH3 RMRP FCGR2A MLH3 SIN3A NSD1 ERCC2 FLCN SDHC ATP8B1 CYBA SPINK5 FANCL CTLA4 CXORF56 MNX1 TCF4 STX3 IL12RB1 NEK1 FLNB FBLN5 SMO STAG2 BCOR TRNH PTPN22 PAX3 SEMA3E RASGRP1 HLA-B COL5A2 RFWD3 TMEM67 RPL15 LRRC56 DNAJC21 GATA1 EFEMP2 NCF1 RPS15A KMT2A ACTG2 IL2RB PEX19 WRAP53 RBM10 PPP1R12A COL1A1 RPL26 SBDS RERE BLM POLD1 RPS27 KLLN FANCM FASLG AXIN2 TNFAIP3 SLC6A8 PTEN KIF7 FOXP3 PTF1A MYCN TGFBR2 CIITA UBR1 NPHP1 GDI1 EDNRB PDGFRL C12ORF65 DNAJB13 CCDC39 MSH6 NOP10 PAX3 HLA-DRB1 ARL13B EDNRB HABP2 IL6 SALL4 NIPBL FANCG RAD51C HYOU1 MYO1H ND5 RPS19 PIGO SPINT2 RTEL1 WAC APC FLNA FLI1 SMAD4 MITF MST1 PIK3CA PDGFRB DNAAF4 CHD7 HLA-B SPINK5 FAT4 TGFBR2 RBM8A CD55 BMPR1A TTC37 LONP1 ISL1 KIT POLR1D STK36 TMEM231 PALB2 SKIV2L NRAS HMBS RET PEX6 MMEL1 ZMYND10 RRM2B BUB1B ERAP1 SMC1A PTEN AXIN2 CTLA4 ZIC2 EFL1 ECE1 PRTN3 SLC9A3 PIGN AGA TRNF NEUROG3 TDGF1 FOXP3 SPIB UBE3B FANCB DMP1 ENPP1 DNAH1 TSR2 IL12A AKT1 KEAP1 ALDH18A1 POLG CDKN1A DISP1 DCTN4 IRF5 ARL3 LEMD3 DKC1 MCIDAS APC EPCAM IVNS1ABP NSUN2 ZEB2 CHST14 IL23R FRMPD4 PTPN12 CFAP300 DHODH APC CTC1 ABCB1 NRTN DHCR7 BMPR1A ACSL4 BUB3 GAS8 LIG4 STK11 OPLAH AK2 MLH1 CCDC40 MYCN CD3G CYP27A1 DACT1 TEK B3GALT6 RPL5 SLC39A4 SDHD STAT1 PHOX2B TMEM237 STAT5B GDNF RTTN SMAD4 PTPRJ ABL1 PEX10 SPEF2 RREB1 CEP57 RAD51C TRNL1 EDNRB CEP41 PDGFRA TBX1 SETD5 NCF4 LRBA DRC1 FERMT1 COX7B PEX12 GPIHBP1 GDF2 DNAH5 PLG TP53 FLNA KATNIP FANCD2 UPF3B PIGV NUP88 TRNQ APC RFC2 NCF1 HPS1 SEMA3C SMAD4 WAS RPS7 MMP21 CDKN2A PTRH2 EDN3 PIGL ZFPM2 LRRC8A DDX59 CCNO ZNF711 PHOX2B BRIP1 PTCH1 GDNF IGLL1 PRKCD SLC18A3 CDK8 APC CC2D2A PORCN CENPF BUB1 SLCO2A1 FAH XIAP CYBB RAD54B EPCAM EPCAM SLC6A8 SRC TTC7A ABCB4 ND1 ITGA8 SRP54 MYD88 NPM1 PTEN BMPR1A PHOX2B TP53 SMAD4 COL5A1 MTTP SERPING1 MLH1 AIRE UBR1 ITGA6 STRA6 PIGN FGFR2 FANCC BCOR CSPP1 DHCR7 PTCH1 UBE2T MUSK POLE VPS51 HCCS RPL27 BDNF HMGA2 TTC7A LTBP4 SKI RPS20 PALLD RUNX1 TTC12 WASHC5 DCC MSH2 RPS24 WT1 INPP5E TFAP2A RPL35 RPS17 COMT INPP5E SBDS MKS1 SHH MEFV IL10RB FAT4 DNAI2 PIGV AKT1 POU2AF1 CCDC28B PEX12 FOXF1 MBTPS2 PIGW SALL1 ARPC1B RPS6KA3 EYA1 TCTN2 MUTYH APC2 FANCA TCTN3 PPOX PKHD1 ODC1 IL12A POLG RPL31 WNT4 RPL18 CCN2 RET PHOX2B DLC1 EP300 CEP120 SOX10 MSH6 DNMT3B SRP54 SF3B4 TINF2 BUB1 SMAD4 SHPK CEP290 PCSK1 DHCR24 ARID1B CFC1 WAS NEK10 MSH6 SDHB PSTPIP1 CISD2 AKR1D1 AP1B1 EDN3 USB1 PIK3CA B3GLCT CCR1 MYCN SAR1B COX4I2 ERGIC1 HIRA RSPH1 PIK3R1 AKR1D1 RELA MITF EPHX1 COL3A1 RMRP TLR2 TGFB1 LIPA SDHB CEP57 ARX ENG SALL4 DACT1 SEMA3D MKS1 MINPP1 CASP10 SH2B1 NTHL1 LMOD1 FOXH1 TRNL1 NOTCH2 MID2 DNAH9 COL5A1 PRKAR1A ZNF41 MSH2 POLG RAB39B ANTXR2 F13B C12ORF65 SALL4 SDHC GJB2 LIG4 WNT2B TYMP MDM2 MYO5B MTOR MLXIPL CDON DGAT1 KAT6A ALG3 SERPING1 FGFR1 CPLX1 SLC5A1 BMPR1A SI ODAD4 DMD CYBB PTEN KRAS CTNNB1 SLX4 SUFU FGF8 HCFC1 PEX13 PKD1 XRCC4 GPC3 ELN CFTR NOTCH3 KMT2D ASCL1 FBLN5 JMJD1C UFD1 ODAD1 CHEK2 CREBBP CCR6 AAGAB HYLS1 LMNA COX2 CPLANE1 KIAA0586 POLD1 CARMIL2 EIF2AK3 APC GTF2I L1CAM ABCB11 CCDC65 AURKA FAN1 RAD21 MSH2 SETD5 CYP7B1 EDN3 EWSR1 ACTG2 SDHC TWNK IGHM EDNRB TCF4 CD79A CFTR MED12 MBTPS2 GATA1 DOK7 CCBE1 USP9X LRP2 MPI RPGR RET SEC23B APC PEX2 TTC37 TET2 PMS2 SNAI2 POLR1C SIX3 GLA AP1S1 PHOX2B HYDIN RPL35A RET TCTN1 FANCE MNX1 TJP2 RAD21 DSE ARL6 KIT RFX6 CPOX MPI PEX26 SPAG1 DNAAF5 POLG FREM1 DLL1 SLC2A2 SAA1 ARHGEF6 AP1S1 CHST14 TEK SRCAP TRNS2 TRNS1 NIPBL COL14A1 CLMP CEP41 ARMC9 AHI1 ZAP70 SYP CREBBP MYRF BRCA2 RFXANK ZEB2 NODAL LETM1 RARB MBTPS2 KRAS GATA6 WFS1 ND4 TBCE INAVA BRCA1 PEX3 NAA10 ATP7A F5 FAS TSPAN7 PLCG2 SPINK1 UBAC2 COX1 CEP104 NME8 KIT PEX1 RERE MYOD1 HDAC8 BUB1B SERPING1 IL21 PTCH2 FOXJ1 ITGB2 TWNK KRAS LCT CYBC1 SNAI2 CCBE1 PIK3CA JAK3 SOX10 KIFBP ECE1 POLA1 IRF5 SEC23B IRGM GATA6 C1R PIBF1 GAS1 DYNC2H1 BTK FRAS1 PGAP3 RPS29 MECP2 TGIF1 TYMP PTCHD1 TCF3 RPL11 ZMPSTE24 PACS1 ACVRL1 POLG DDX59 TGFB1 PIGY PLA2G2A CCDC47 TCF4 SLC10A2 FARSB MLH3 GPC4 GLI2 AHI1 HLA-DPA1 PEX14 RSPH3 IL10RA PEX16 DOCK8 RPS26 GREM1 HPGD SDHA TRMT5 DNAL1 FLNA RIPK1 MLH1 KIT SUFU FOXF1 KLRC4 AXIN2 DNAJC21 HSD3B7 DYRK1A IL12A-AS1 EXOC6B TRNK MKKS CDKN1B MEN1 ASCL1 KIFBP RNF43 TP53 JAK1 PAK3 HMBS ADA2 ACTG2 CAVIN1 SDHB ITGB4 ZAP70 TMEM138 RNF43 DNMT3B RET PERCC1 TP63 SETD2 CFAP221 AMER1 TMEM216 BMPR1A ZNF423 ARVCF PMS1 IQSEC2 SMAD7 PGAP2 PRSS1 CLIP2 RECQL4 MSH2 MKS1 F12 FANCF KLHL7 RECQL4 NCF2 ODC1 CEP120 BAZ1B WHCR MAP3K7 JAK2 DNAAF3 GAS2L2 CCDC103 MTTP CDCA7 CDKN2A RET XRCC2 CDKN2C CLCA4 STX1A SIX1 ATRX EP300 MUTYH FGFR1 DNAH11 MIR17HG B9D1 SAR1B ASXL1 RAC2 DLG3 CD79B KDM6A B2M NHP2 AMACR NCF4 CCDC22 BAX RPS6KA3 INSR BLNK EDN3 DIS3L2 MKKS EDN3 CAV1 GUCY2C IL10 COX3 PRSS2 SNAI2 NLRC4 CLMP CLCN4 PARN NOD2 TP53 PIK3C2A GABRD EP300 PIK3CA APC BRCA1 KCNAB2 KIT USF3 PLVAP RAPSN AMACR NCF2 SH3KBP1 TNPO3 SRP54 L1CAM SDHD IL2RA MEFV STAT3 ODAD3 NDUFB11 CYBC1 HSD3B7 PLA2G4A BAAT POLE ASXL1 CHRM3 GREB1L TMPRSS6 BACH2 SRSF2 NPHP3 SDHB FGFR3 WIPF1 GATA6 CTC1 FAS KITLG TBX1 RFX5 BBS1 HNRNPU PALB2 GTF2IRD1 FAS PNLIP BMPR1A CCNQ ELN CBLIF SLC6A19 COG6 TERC CBL ADAMTS3 MYLK EDNRB EP300 SMC3 COG8 ODAD2 STAT4 SLC29A3 FOXE1 TCOF1 SOX10 MYH11 TMEM237 SEMA4A FBN2 AGTR2 ACOX2 CYBA PIEZO1 MAD2L2 GDNF ALG13 RPGRIP1L EP300 RFWD3 DZIP1L TLR4 TRNW LRRC6 RTEL1 PORCN PEX5 CCND1 EDN3 PDGFRA DICER1 MED12 DNAI1 CTBP1 MLH1 ITCH ELANE CXCR4 FLCN TNFRSF1A BRCA2 ADAMTS3 ND6 MYO5B DNAAF1 TGFB1 TMEM237 FGFRL1 IL1RAPL1 RFXAP C4A CREBBP ALG8 F13A1 ELN SLC9A7 ENG SETBP1 APC SDHC MVK TERT FGFR2 RPS10 SALL4 KDM3B PLG SLC46A1 ADAM17 TBL2 STK11 SMO SLC7A7 MED12 RSPH9 CDKN2B CFAP298 ACTA2 SRCAP RET SKIV2L JAK3 DMPK ZNF81 GNAS PMS2 RPS28 PMS1 AKT1 PRDM16 IDS ZEB2 EFL1 STAT1 TRNE

Protein Mutations 1

C10D

SNP 8

rs1217414 rs12760457 rs1310182 rs2097432 rs2476601 rs2488457 rs33996649 rs3789604

HP:0100834: Neoplasm of the large intestine

Genes 156

TGFBR2 SH3KBP1 MLH1 RPS19 MLH1 SDHD PDGFRL AXIN2 POLE COL14A1 RPL27 PRKAR1A MSH6 MSH2 POLE RPS20 PALLD BRCA2 RPL5 FGFR3 TP53 HABP2 DCC SDHC MSH2 RPS24 ADA2 RPL35 MDM2 RPS17 BRCA1 RNF43 PTPRJ PALB2 RPS19 BMPR1A BMPR1A CEP57 BMPR1A APC PMS1 PTEN EP300 SMAD4 KRAS SMAD7 CTNNB1 PDGFRA MSH2 MST1 PIK3CA FOXE1 TRIP13 KIT TGFBR2 MLH3 MCC SEMA4A TP53 BUB1B GPR35 MUTYH BMPR1A CHEK2 KRAS AAGAB APC MSH3 CDKN2A ODC1 POLD1 PIK3CA NRAS APC RPL31 SMAD4 MLH3 RPS7 FLCN AURKA RPL18 CCND1 FAN1 CDKN2A DLC1 DICER1 BUB1B SEC23B MUTYH MSH2 MLH1 TCF4 MSH6 FLCN AXIN2 SDHC BUB1 GATA1 SMAD4 BAX ENG APC RPS29 BUB1 MSH6 SDHB TSR2 RPS10 APC RPL11 AKT1 KEAP1 RAD54B PMS2 EPCAM RPL15 EPCAM SRC RPL35A STK11 RPS15A APC PLA2G2A MLH3 DMPK TP53 PTEN BMPR1A KIT TP53 PMS2 RPL26 TLR2 RPS28 PMS1 PIK3CA APC PTPN12 BLM AKT1 MLH1 SDHB POLD1 RPS27 KLLN APC AXIN2 USF3 DOCK8 RPS26 BMPR1A GREM1 SDHA MINPP1 BUB3 NTHL1

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 380

MLH1 STK11 RPS19 KIT MLH1 AXIN2 CD81 AXIN1 HFE PRKAR1A WWOX MSH2 CTHRC1 CDKN1B MEN1 RAD51C RPL5 IRF1 RHBDF2 SDHD RNF43 TP53 WT1 HBB STAT1 SDHC HMBS ADA2 MDM2 MTOR SDHB MITF KCNJ11 RNF6 SMAD4 RNF43 SLC37A4 PTPRJ KRAS DAXX RHBDF2 LMNA C11ORF95 BMPR1A TJP2 CEP57 TNFSF15 BMPR1A NFKB1 BLK PMS1 PTEN EDNRB APC MSR1 KRAS SMAD7 CTNNB1 PDGFRA MSH2 CTNNB1 SUFU TRIP13 JAK2 ATRX TRIP13 GDF2 MLH3 CASP8 CEL MCC DIS3L2 BARD1 TP53 GPR35 MET RELA PYGL TP53 APPL1 CHEK2 IL1RN AAGAB APC ICOS MSH3 CDKN2A BRCA2 PRKCD BRCA1 POLD1 APC SEMA3C POT1 ABCB11 SMAD4 NEUROD1 MLH3 RPS7 CDKN2C FLCN SDHC AURKA FAN1 CDKN2A RAD21 G6PC POU6F2 MUTYH MSH2 TCF4 SPRTN MUTYH SDHC PTCH1 IL12RB1 TRIM28 CDKN2B CHEK2 TMEM67 GDNF PDX1 GATA1 SDHC INPP5E PRKCD BAX ARSA APC EDN3 BUB1 RASGRP1 FAH RAD51 SEC23B APC RAD54B SETBP1 AHCY BRCA2 PMS2 EPCAM MSH3 RPL15 EPCAM SRC HNF1A SMPD1 RPL35A BMP2 RET MEN1 RPS15A PAX4 GPC4 TP53 PTEN TERF2IP BMPR1A TNFRSF13C KIT HBB TP53 NBN SMAD4 RPL26 PIK3CA APC CPOX MGMT BLM MLH1 POLD1 RPS27 KLLN BRIP1 FASLG AXIN2 USF3 PTEN H19 UROD TGFBR2 WRN SH3KBP1 CR2 CDH1 SERPINA1 TNPO3 MEN1 SDHD PDGFRL STAT6 POLE COL14A1 RPL27 CC2D2A MSH6 TREX1 POLE SLC25A13 RAD51D PSAP GPC3 RPS20 JAG1 GNAS PALLD SDHB BRCA2 PALB2 ACD FGFR3 HABP2 DCC PIK3CA MSH2 RPS24 CASP10 HBB RPL35 RPS17 FAS ERBB2 APC TP53 BRCA1 PALB2 RPS19 H19-ICR PIK3CA IL1B FAS AKT1 BMPR1A PIEZO2 MS4A1 NFKB2 KCNQ1OT1 APC CD19 PHKA2 HNF4A EP300 SMAD4 POU2AF1 PTPN3 MST1 PIK3CA ABCC8 FOXE1 TGFBR2 KIT TNFRSF13B FGFR2 TGFBR2 HNF1A PHKG2 SEMA4A BUB1B HFE SLC37A4 SDHD MUTYH PTCH2 BMPR1A TTC37 SDHB TERT PPOX KRAS PKHD1 ODC1 IL12A PIK3CA SKIV2L DZIP1L NRAS FAH RPL31 HMBS CHEK2 HFE MMEL1 IGF2R RPL18 SDHD CCND1 PDGFRA DLC1 DICER1 IRF5 BUB1B SEC23B SDHB REST RPGRIP1L MLH1 PTEN MSH6 RAD50 NAB2 FLCN AXIN2 DLEC1 ECE1 SLC25A13 BUB1 GPC3 KCNQ1 SMAD4 CDKN2A ENG SETBP1 APC ASCC1 RPS29 SPIB SDHC PTEN MC1R MSH6 SDHB TSR2 RPS10 RPL11 AKT1 KEAP1 TRIM28 CDK4 INS ACVRL1 CDKN1A PIK3CA IGF2 H19-ICR STK11 CDKN1C IGF2 MRE11 CDKN2B FH BAP1 TNFSF12 WT1 APC F5 PLA2G2A PDGFRL KLF11 MLH3 DMPK GNAS PMS2 CTNNB1 ATP7B KLF6 TLR2 RPS28 PMS1 CDKN1B PTPN12 TNFSF12 AKT1 SDHB APC ENG NRTN BCL10 SEMA3D DOCK8 RPS26 GCK BMPR1A GREM1 SDHA MINPP1 CASP10 BUB3 NTHL1

Protein Mutations 5

C10D G12D G12V G34A V600E

SNP 2

rs2231137 rs3114018

HP:0002664: Neoplasm

Genes 1537

H19 RPS19 WT1 GPR101 CHEK2 MYD88 VEGFC PGM3 CTNNB1 PDGFRA IRF1 RHBDF2 PICALM FANCC GDNF RET PRKAR1A NELFA BCL10 KRT10 BLK TINF2 SMARCD2 NSD2 BRCA1 KRAS TRIP13 KCNH1 PERP CDH23 IKBKG MCC JAK2 MET GTF2E2 FOXC2 NF1 RAD51 TP53 ERCC4 WNT10A ASXL1 CTLA4 FLT4 DVL3 BRCA1 MLH3 NSD1 ERCC2 TSC2 FANCL RPS14 CDC73 TNFRSF4 STAG3 MSTO1 AIP EVC RET PLCD1 SDHB NEK1 POLH ASXL1 BRAF IL7 MAP2K1 ARSA BRAF COL4A5 CYLD KRT14 MLLT10 RASGRP1 H19 XIAP NTHL1 FGFR2 IGH DNAJC21 LETM1 MCM4 MYF6 CD70 FAM149B1 FGFR3 TERF2IP TNFRSF13C GLI3 DDX41 RPL26 PRLR SBDS LIG4 MGMT RERE KLLN FANCM WT1 PHB AXIN2 KIT PTEN TGFBR2 GJA1 PDGFRL STAT6 TYR CPLANE1 IFNG SIX6 JAG1 PALB2 SSX1 FANCG KIT MYO1H ELANE RPS19 H19-ICR KRT6B IDH2 PLCB4 FGFR1 BAP1 MINPP1 MST1 SMARCB1 PDGFRB RB1 FAT4 NF1 HFE SDHD WT1 TET2 BMPR1A RAF1 POLR1D CBFB SKIV2L IRF1 COL18A1 HMBS RET MMEL1 IGF2R JAK2 SEC23A BUB1B XPC ING1 AXIN2 KIT PALB2 MAGT1 STAC3 ALK SLC25A13 TMEM231 SHOX TDGF1 REST SMO SMARCA4 DNM2 TSR2 LIN28B GNAS WT1 CDKN1A DNAJC21 DKC1 BAP1 SRGAP1 ALX1 PTPN11 CBL APC SCN11A MAP3K1 RPL10 KLF6 PAX7 APC C1S NRTN BUB3 KRT5 LIG4 CARD14 GNAS MLH1 CDKN2A GNA11 TMEM127 ESR1 IL2RG KRT1 MET NF2 SDHAF2 SDHD WT1 MAP3K8 STAT1 PHOX2B PTPRJ PTCH2 CHD7 TERT LMNA ERCC6 EDNRB XPA PDGFRA OFD1 VHL SAMD9L SF3B1 FERMT1 BRCA1 GDF2 CASP8 TP53 LAMC2 GFI1B FANCD2 PYGL CR2 AR REST APPL1 APC CYP2A6 SEMA3C WT1 CDKN2A CTSA LRRC8A PHOX2B SMARCB1 NAGS FLI1 SOX2 RAD21 TMEM127 APC FGF3 BAP1 BUB1 RAD51 DKC1 RAD54B VHL EPCAM ASXL1 SRC HRAS BMP2 SLC25A11 PTH1R KRAS MYD88 NPM1 PTEN SH3GL1 PHOX2B TP53 SMAD4 XPA GATA4 MLH1 PMS2 STK11 FANCC DHCR7 PTCH1 CDC73 CYLD MEN1 CLCNKB CHEK2 RNF139 HABP2 POLE H19-ICR MMP1 RPL27 CC2D2A PIK3CA GPC3 ABL1 PALLD WASHC5 INTU ERCC5 DYNC2LI1 SLC22A18 TP53 CDH1 SHH MPL AKT1 NFKB2 NRAS PIGL CASP8 MYC KCNE3 DLST TAF15 TNFRSF13B GDNF EYA1 APC2 TNFRSF1B TCTN3 PPOX PNP PKHD1 BLM ODC1 IL12A TERT STK11 KRT17 IDH1 CIB1 RPL18 DVL1 ARHGAP26 PHOX2B CASP8 RPGRIP1L KRT6A SDHB FGFR2 VAMP7 JAK2 SRY DNMT3A EPAS1 KCNQ1OT1 MSH6 KRAS SDHB WNT5A DNMT3A RUNX1 TRIM28 DHCR24 USB1 VANGL2 GCM2 LIG4 KRAS SDHB ENG SEMA3D TRNS2 MINPP1 CASP10 NTHL1 LMOD1 SUFU FOXH1 CD81 ALX4 F13B BMPR1B RB1 CACNA1S CHIC2 VHL HRAS KIF11 KCNJ11 WRN SLC37A4 GNAQ LZTR1 CCND1 CPLX1 NR4A3 RYR1 NBEAL2 GATA2 TP63 APC KRAS HNF1B SUFU GNB1 MSX2 GPC3 CEL TCTN3 OCA2 MDM4 RB1 TMC6 ASCL1 AR BRIP1 CHEK2 AAGAB TSC1 TXNRD2 POLD1 CARMIL2 APC PIK3CA AKT1 POLE FAN1 RAD21 G6PC BRD4 PTCH2 MSH2 DHH EWSR1 SPRTN SDHC PTCH1 ALX3 CD79A TMEM67 INPP5E CCBE1 KRT6B BRCA2 ITK GINS1 HLA-DRB1 SNAI2 NBN PHOX2B BRAF CDH1 FANCE TYR GPC4 NF1 CD19 MVD AIP AR NBN TMEM107 BRIP1 ATRX BCHE MITF WRN BCR BCR NF2 SERPINA1 SDHB RABL3 PARN ANTXR2 TERT DPM1 IFIH1 GDF5 ZAP70 MEN1 TP53 GNAS BRCA2 TMC8 NODAL LETM1 VANGL1 TBXT BRCA1 FIBP FLT4 IL1B CCL2 FGFR3 SUFU MTAP ELANE CD19 HNF4A SAMD9 BUB1B KLHDC8B SLC26A2 FGFR3 FOXP1 PUF60 RUNX1 PTCH2 TRNK FLT4 TYROBP MPL KRAS RAD54L PIK3CA FAH CHEK2 CPLANE1 FAM20C CXCR4 DDR2 POU6F2 TMC6 SEC23B RET TRNP TFE3 TP53 NAB2 ANTXR1 MYSM1 SDHAF2 BTK TNFRSF10B DCLRE1C L2HGDH CDKN2A CYP11B2 BRCA2 SDHD TET2 TMEM216 BRAF PTCH2 TCF3 RPL11 NNT FLT3 BAX HAX1 IGF2 AKT1 FGFR3 MLH3 PLA2G2A TCF4 MLH3 NOTCH1 ERCC4 RRAS2 GPC4 DICER1 LZTS1 DOCK8 CASP10 GREM1 HPGD COL1A1 DCLRE1C IDH1 XRCC3 SUFU DNAJC21 PDGFRB TP53 NLRP1 WWOX TSC1 CTSC USP9X PDCD10 MEN1 ASCL1 RNF43 TNFRSF13C ESCO2 ZFPM2 AP2S1 PRCC HMBS ADA2 GANAB WT1 RNF43 HRAS KRAS SETD2 ATP6V1B2 FLT3 TJP2 BMPR1A PDGFB KIAA0753 PTEN STK4 NFKB1 BAP1 PMS1 MSR1 SLC26A2 RECQL4 MSH2 JAK2 ATRX FH RECQL4 FCN3 CD28 ASPSCR1 ADAR WHCR NOTCH3 GATA2 SMARCE1 CDKN2A RET ESCO2 EXT1 ERCC5 TET2 MBTPS2 NF1 OFD1 AGGF1 MVK KIT MUTYH HRAS KRIT1 FGFR1 TRIM28 CHEK2 CD79B GNAS BRCA2 KDSR BAX HACE1 MAP2K2 EDN3 ERCC2 CTNNB1 IL6 IGH PIK3CA MSH3 FZD2 SMPD1 SNAI2 PHOX2B SLC26A2 OFD1 PAX4 RB1 TRIP13 EWSR1 SCN9A PIK3R1 GBA EP300 PIK3CA HMMR KIT PDE6D ZSWIM6 SH3KBP1 SRP54 FUZ USP8 WT1 TERT MAFA FOXO1 GJB3 RAD51D POT1 SDHC PRKAR1A CREB1 SH2D1A WIPF1 WWOX PIK3CA NF2 HNF4A FAS RNASEH2A CD27 ATRX SPRED1 RPS14 FDPS RNR1 PALB2 NF1 MN1 TET2 GPC4 KDR SOX9 RAD51 MAX MYLK EP300 SHOX FOXE1 TCOF1 ESCO2 MYH11 HSPA9 MAD2L2 KRT9 CYP2D6 RFWD3 FANCE KRAS CCND1 LMO1 PTCH1 PORCN EDN3 PDGFRA DICER1 FANCA TERC CTBP1 SDHD ANTXR1 CXCR4 RAD50 BRCA2 MC1R MPL SLC22A18 MMP1 KRT16 F13A1 TSC2 ENG SETBP1 WT1 TET2 SDHC SMAD4 ZFHX3 GFI1 RNF113A STK11 KARS1 FOXE1 CDKN2B WT1 ERBB3 SMARCAD1 PDGFRL DMPK GTF2H5 NF2 CEBPA RPS28 PMS1 AKT1 PRDM16 NBN GCK SPINK1 ERBB2 JAK2 KIT DKC1 EXT1 JAK2 COL7A1 AXIN1 SLC22A18 NRAS ECM1 GNPTAB ABCA5 CDH1 NRAS ERCC6 VANGL1 RAD51C MYCN HBB TP53 SRY FANCI AKT1 MITF LEMD3 TARS1 TET2 NSD2 DAXX DYNC2LI1 OGG1 EXT1 TNFSF15 TERT ERCC6 DMRT3 SLC25A11 CTNNB1 VHL KLLN MLH3 EIF2AK4 GJB6 BARD1 OCRL GPR35 MYC DLST KRAS MSH3 RMRP PRKCD KLF6 NEUROD1 FANCG SLC17A9 BMPER FLCN SDHC SF3B1 STS GNA14 TERC MNX1 CAT TCF4 TUBB TRNQ BRCA2 IL12RB1 PDX1 CDKN2A SLC26A4 SDHC PPM1D NRAS PRKAR1A NRAS TAL1 KIF1B DNMT3A PDGFB MRAP ERCC3 CDC73 PRF1 RFWD3 PMVK RPL15 FGFR1 TP53 BICC1 HNF1A GATA1 RTEL1 RPS15A ERCC4 WRAP53 NR0B1 BCR FGFR2 SEC23A KRT17 NR5A1 VHL BLM BRAF ICOS POLD1 RPS27 FASLG CYSLTR2 PTEN PRKN THPO KIF7 NRAS TAL2 BRAF WDPCP DCC MSH6 NOP10 WNT10A PSAP ERCC2 CALR ACD SLX4 ACAN HABP2 GJB4 TET2 PHF21A ERCC3 MDH2 APC PALB2 RPL10 KRT17 PGM3 IL7R ARL6IP6 APC TCIRG1 NF1 SMAD4 PTPN3 PIK3CA ABCA5 FGFR2 TGFBR2 BRCA2 HNF1A RNASEH2C PAX6 IGH TTC37 DICER1 SRY GPC6 TOP2A KIT OFD1 PALB2 NRAS MC1R SDHD TFAP2A FGFR3 TNFRSF1B REST PTEN MST1R SCN4A BRCA2 CDKN2A FGFR2 ZIC2 EFL1 ECE1 NUP214 DDB2 GPC3 KCNQ1 PTEN HNF1B FN1 ASCC1 SPIB SRP72 PTEN FANCB KCNJ10 AKT1 KRAS KEAP1 INS DISP1 PTEN SASH1 CDKN1C ACTB TNFRSF13B MYH8 EDN1 IVNS1ABP NSUN2 TSC1 RAD51C MSH3 ATP7B RET PTPN12 STIM1 DHCR7 KRAS SFTPC BMPR1A XPC TMC8 KCNJ10 KDM6B STK11 KRAS GNAQ KRAS HFE HOXD13 B3GALT6 RPL5 KAT6B GATA2 MUC5B PIK3CA USP8 GDNF SMAD4 MVK RHBDF2 SSX2 CEP57 RAD51C NEK9 JAK2 PDGFB NRAS KRT1 PIK3CA MFN2 DOCK8 PTEN IL7 SDHC ATM AKT1 BRCA1 RELA GCDH PIK3CA IDH2 HRAS CTLA4 GPR143 ERCC2 GATA2 PTPN11 IGF2 SMAD4 NDUFAF6 CDH23 RPS7 RAD54B TP53 MUTYH GLI3 PTPN11 BRIP1 CDKN1B SF3B1 PTCH1 CIB1 ERCC3 PTPN11 TRPV3 GDNF IGLL1 PRKCD CTNNB1 PIK3CA PTPN11 SLCO2A1 FAH BRCA1 ETV6 BRCA2 EPCAM TP53 EXT1 BCL10 TRPS1 BMPR1A ATM MPL KRT17 MAX SLC12A3 ADA TERT UBE2T TSC2 TCTN3 MSH2 BDNF BTK SKI RPS20 NRAS RUNX1 DCC MSH2 RPS24 WT1 TRNF TFAP2A RPL35 RPS17 SDHA RARA CDC73 SBDS POLH BRAF LAMB3 RNF6 PIEZO2 KCNQ1OT1 CCM2 PHKA2 POU2AF1 TP53 TREM2 ABCC8 EXT2 ALK PHKG2 NUTM1 SLC26A4 PTCH1 MUTYH PALLD NBN FANCA SQSTM1 ELMO2 ACP5 TWIST1 TRIM37 RPL31 HFE RET DLC1 SDHB EP300 TREX1 HSPG2 ATP7A MSH6 C2CD3 CHRNG SRP54 TINF2 BUB1 PSENEN SMAD4 NF1 ERCC3 ARID1B RMRP WAS GATA2 MAPK1 BIN1 COL7A1 EDN3 PIK3CA IGF2 H19-ICR TUBB FH MLH1 TNFSF12 PIK3R1 RASA1 F5 SH2B3 CTNNB1 FOXI1 SUFU TLR2 SRSF2 CDKN1B GJC2 OPCML LEMD3 FIBP TRNS1 HNF1A VHL PTEN PRKAR1A MSH2 CYLD CTHRC1 COL7A1 DDB2 SDHC GJB2 LIG4 MDM2 LAMA3 CHEK2 MTOR CDON SMARCE1 TAF1 GNAQ TP53 RAD54L WWOX BMPR1A CCND1 GFI1 BCL10 PTEN CTNNB1 DHX37 SLX4 FGF8 XRCC4 TRIP13 CDC73 BIRC3 NOTCH3 DIS3L2 PKD2 KIF1B GNA11 ARMC5 CREBBP DIS3L2 HRAS LMX1B BAP1 BRCA2 POT1 ABCB11 AURKA RASA1 SMARCB1 ALX4 GPC3 MGAT2 PAX3 IGHM LMNA TCF4 GATA1 TRNK IDH1 LRP5 CALR FH RET SEC23B APC TET2 SETBP1 WT1 PMS2 POLR1C SIX3 EPHB2 RPL35A RET TINF2 CD28 CYP26C1 MNX1 ALX3 KIT CPOX GJB2 DLL1 MSTO1 RSPO1 TEK EXT2 ABCC6 COL2A1 GNAS FH FASLG BAP1 COL14A1 YY1 RAG2 RB1CC1 MAP2K1 RHOH STAR CREBBP RECQL4 EVC2 HBB ERBB2 ABL1 NDP SUFU NF2 MSH6 ATP7A TSC1 FAS SLC6A17 MS4A1 NQO2 FLCN EXTL3 SOS1 RNASEL NPM1 KIT GNAI3 TRNH RAG1 HRAS BUB1B IGF2 PLAG1 FANCD2 BCL2 NEK1 KIT ATP7A PIK3CA SMARCB1 PCGF2 LIG4 BCL6 NUP214 FLNA IRF5 ACVR1 GAS1 DYNC2H1 RSPRY1 TRAF7 RNASEH2B REST RPS29 TGIF1 TERT PIGA TP53 CDK4 GPR101 ACVRL1 SAMHD1 MSL3 MAPRE2 SLC45A2 CTNNB1 ADA KLF11 NKX2-1 GLI2 PKD1 MAP3K1 SRP54 TNFSF12 ND5 CRKL RASGRP1 BCL10 RPS26 GLI3 TRNL1 AR SDHA RB1 MLH1 MC2R TGFBR1 KIT CYP11B1 AXIN2 EGFR PIK3CA RECQL4 EXOC6B SMO SFTPA2 NRAS CDKN1B TP53 PIK3CA MSH6 ACTG2 POT1 SDHB RNF6 CALR KCNN3 C11ORF95 TSC2 CD96 SOS1 COL2A1 SMAD7 GLI1 FANCF MPL CDH1 BRCA2 BRAF ATR SDHA FLCN DICER1 IL1RN ICOS AIP RSPO1 DICER1 GCM2 XRCC2 DNASE1L3 PPP2R1B TGFBR2 MTM1 CDKN2C SIX1 MEN1 POU6F2 SRD5A3 STAT3 ERCC3 TG ASXL1 CDKN2B CYLD NHP2 CCDC22 TBC1D24 BLNK DIS3L2 SH2B3 MPLKIP AHCY PCNA EXT2 EXT2 MEN1 PARN WRAP53 TP53 HBB GABRD NUMA1 APC ZSWIM6 BRCA1 GJB2 KCNAB2 AIP USF3 RUNX1 H19 HDAC4 SDHD UROD PDGFRB CR2 HRAS CDH1 ERBB2 TNPO3 LPP SDHD IL2RG ATM BARD1 TREX1 POLE C2CD3 ERCC4 SLC25A13 PNP KRAS SRSF2 SDHB FGFR3 CASR CASP10 TET2 CTC1 ENPP1 SOX6 PIK3CA BMPR1A ERCC2 TERC CBL ADAMTS3 PIGL BCR SAMD9L NOD2 CBL TGFBR2 MALT1 SEMA4A ANTXR2 SLC37A4 TBX2 DHH STS SDHB TERT KRT16 DZIP1L RTEL1 SDHD CCND1 AKT1 FOXI1 CDK4 NSD1 MLH1 FLCN DLEC1 FGFRL1 MTMR14 GCGR TBX18 CREBBP MXI1 APC BCL10 COL11A2 TERT MC1R SCN10A RPS10 SMO BRCA2 KIT ATM PRKN MRE11 KIF1B KCNH1 VHL GPR101 GNAS PMS2 ACD WDPCP MAD1L1

Protein Mutations 79

C10D C377T C677T C797S D816V D835V D842V E10A E17K E542K E545K F1174L F11N F31I G12C G12D G12V G13D G156A G20210A G719A G719C H1047R H1112L H1112Y H1124D I638F K652E L1213V L239R 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 S768R 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