Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Genome_Change Annotation_Transcript Transcript_Strand cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site Oncomap_Assays_Names Assay.Direction BRAF 673 broad.mit.edu 36 7 140127886 140127886 + Missense_Mutation SNP C A A MDAMB231_BREAST Phase_I g.chr7:140127886C>A uc003vwc.2 - c.1391G>T c.(1390-1392)GGA>GTA p.G464V NM_004333 NP_004324 P15056 BRAF_HUMAN B-Raf 464 ATP (By similarity).|Protein kinase. OM_00035 R BRAF 673 broad.mit.edu 36 7 140127880 140127880 + Missense_Mutation SNP C A A NCIH1666_LUNG Phase_I g.chr7:140127880C>A uc003vwc.2 - c.1397G>T c.(1396-1398)GGA>GTA p.G466V NM_004333 NP_004324 P15056 BRAF_HUMAN B-Raf 466 ATP (By similarity).|Protein kinase. OM_00043A F BRAF 673 broad.mit.edu 36 7 140127880 140127880 + Missense_Mutation SNP C A A CAL12T_LUNG Phase_I g.chr7:140127880C>A uc003vwc.2 - c.1397G>T c.(1396-1398)GGA>GTA p.G466V NM_004333 NP_004324 P15056 BRAF_HUMAN B-Raf 466 ATP (By similarity).|Protein kinase. OM_00043A F BRAF 673 broad.mit.edu 36 7 140127871 140127871 + Missense_Mutation SNP C G G NCIH1755_LUNG Phase_I g.chr7:140127871C>G uc003vwc.2 - c.1406G>C c.(1405-1407)GGA>GCA p.G469A NM_004333 NP_004324 P15056 BRAF_HUMAN B-Raf 469 ATP (By similarity).|Protein kinase. OM_00045 F BRAF 673 broad.mit.edu 36 7 140127871 140127871 + Missense_Mutation SNP C G G NCIH1395_LUNG Phase_I g.chr7:140127871C>G uc003vwc.2 - c.1406G>C c.(1405-1407)GGA>GCA p.G469A NM_004333 NP_004324 P15056 BRAF_HUMAN B-Raf 469 ATP (By similarity).|Protein kinase. OM_00045 F BRAF 673 broad.mit.edu 36 7 140099618 140099618 + Missense_Mutation SNP C G G NCIH508_LARGE_INTESTINE Phase_I g.chr7:140099618C>G uc003vwc.2 - c.1786G>C c.(1786-1788)GGT>CGT p.G596R NM_004333 NP_004324 P15056 BRAF_HUMAN B-Raf 596 Protein kinase. OM_00049 F BRAF 673 broad.mit.edu 36 7 140099615 140099615 + Missense_Mutation SNP G C C NCIH2087_LUNG Phase_I g.chr7:140099615G>C uc003vwc.2 - c.1789C>G c.(1789-1791)CTA>GTA p.L597V NM_004333 NP_004324 P15056 BRAF_HUMAN B-Raf 597 Protein kinase. OM_00050 R BRAF 673 broad.mit.edu 36 7 140099605 140099605 + Missense_Mutation SNP A T T HS695T_SKIN Phase_I g.chr7:140099605A>T uc003vwc.2 - c.1799T>A c.(1798-1800)GTG>GAG p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN B-Raf 600 Protein kinase. OM_00052A F BRAF 673 broad.mit.edu 36 7 140099605 140099605 + Missense_Mutation SNP A T T C32_SKIN Phase_I g.chr7:140099605A>T uc003vwc.2 - c.1799T>A c.(1798-1800)GTG>GAG p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN B-Raf 600 Protein kinase. OM_00052A F BRAF 673 broad.mit.edu 36 7 140099605 140099605 + Missense_Mutation SNP A T T HS294T_SKIN Phase_I g.chr7:140099605A>T uc003vwc.2 - c.1799T>A c.(1798-1800)GTG>GAG p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN B-Raf 600 Protein kinase. OM_00052A F BRAF 673 broad.mit.edu 36 7 140099605 140099605 + Missense_Mutation SNP A T T K029AX_SKIN Phase_I g.chr7:140099605A>T uc003vwc.2 - c.1799T>A c.(1798-1800)GTG>GAG p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN B-Raf 600 Protein kinase. OM_00052A F BRAF 673 broad.mit.edu 36 7 140099605 140099605 + Missense_Mutation SNP A T T RPMI7951_SKIN Phase_I g.chr7:140099605A>T uc003vwc.2 - c.1799T>A c.(1798-1800)GTG>GAG p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN B-Raf 600 Protein kinase. OM_00052A F BRAF 673 broad.mit.edu 36 7 140099605 140099605 + Missense_Mutation SNP A T T COLO800_SKIN Phase_I g.chr7:140099605A>T uc003vwc.2 - c.1799T>A c.(1798-1800)GTG>GAG p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN B-Raf 600 Protein kinase. OM_00052A F BRAF 673 broad.mit.edu 36 7 140099605 140099605 + Missense_Mutation SNP A T T IGR37_SKIN Phase_I g.chr7:140099605A>T uc003vwc.2 - c.1799T>A c.(1798-1800)GTG>GAG p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN B-Raf 600 Protein kinase. OM_00052A F BRAF 673 broad.mit.edu 36 7 140099605 140099605 + Missense_Mutation SNP A T T G361_SKIN Phase_I g.chr7:140099605A>T uc003vwc.2 - c.1799T>A c.(1798-1800)GTG>GAG p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN B-Raf 600 Protein kinase. OM_00052A F BRAF 673 broad.mit.edu 36 7 140099605 140099605 + Missense_Mutation SNP A T T SKMEL28_SKIN Phase_I g.chr7:140099605A>T uc003vwc.2 - c.1799T>A c.(1798-1800)GTG>GAG p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN B-Raf 600 Protein kinase. OM_00052A F BRAF 673 broad.mit.edu 36 7 140099605 140099605 + Missense_Mutation SNP A T T SKHEP1_LIVER Phase_I g.chr7:140099605A>T uc003vwc.2 - c.1799T>A c.(1798-1800)GTG>GAG p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN B-Raf 600 Protein kinase. OM_00052A F BRAF 673 broad.mit.edu 36 7 140099605 140099605 + Missense_Mutation SNP A T T A375_SKIN Phase_I g.chr7:140099605A>T uc003vwc.2 - c.1799T>A c.(1798-1800)GTG>GAG p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN B-Raf 600 Protein kinase. OM_00052A F BRAF 673 broad.mit.edu 36 7 140099605 140099605 + Missense_Mutation SNP A T T SKMEL24_SKIN Phase_I g.chr7:140099605A>T uc003vwc.2 - c.1799T>A c.(1798-1800)GTG>GAG p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN B-Raf 600 Protein kinase. OM_00052A F BRAF 673 broad.mit.edu 36 7 140099605 140099605 + Missense_Mutation SNP A T T LOXIMVI_SKIN Phase_I g.chr7:140099605A>T uc003vwc.2 - c.1799T>A c.(1798-1800)GTG>GAG p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN B-Raf 600 Protein kinase. OM_00052A F BRAF 673 broad.mit.edu 36 7 140099605 140099605 + Missense_Mutation SNP A T T UACC257_SKIN Phase_I g.chr7:140099605A>T uc003vwc.2 - c.1799T>A c.(1798-1800)GTG>GAG p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN B-Raf 600 Protein kinase. OM_00052A F BRAF 673 broad.mit.edu 36 7 140099605 140099605 + Missense_Mutation SNP A T T COLO829_SKIN Phase_I g.chr7:140099605A>T uc003vwc.2 - c.1799T>A c.(1798-1800)GTG>GAG p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN B-Raf 600 Protein kinase. OM_00052A F BRAF 673 broad.mit.edu 36 7 140099605 140099605 + Missense_Mutation SNP A T T A673_BONE Phase_I g.chr7:140099605A>T uc003vwc.2 - c.1799T>A c.(1798-1800)GTG>GAG p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN B-Raf 600 Protein kinase. OM_00052A F BRAF 673 broad.mit.edu 36 7 140099605 140099605 + Missense_Mutation SNP A T T MELHO_SKIN Phase_I g.chr7:140099605A>T uc003vwc.2 - c.1799T>A c.(1798-1800)GTG>GAG p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN B-Raf 600 Protein kinase. OM_00052A F BRAF 673 broad.mit.edu 36 7 140099605 140099605 + Missense_Mutation SNP A T T COLO201_LARGE_INTESTINE Phase_I g.chr7:140099605A>T uc003vwc.2 - c.1799T>A c.(1798-1800)GTG>GAG p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN B-Raf 600 Protein kinase. OM_00052A F BRAF 673 broad.mit.edu 36 7 140099605 140099605 + Missense_Mutation SNP A T T DU4475_BREAST Phase_I g.chr7:140099605A>T uc003vwc.2 - c.1799T>A c.(1798-1800)GTG>GAG p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN B-Raf 600 Protein kinase. OM_00052A F BRAF 673 broad.mit.edu 36 7 140099605 140099605 + Missense_Mutation SNP A T T GCT_SOFT_TISSUE Phase_I g.chr7:140099605A>T uc003vwc.2 - c.1799T>A c.(1798-1800)GTG>GAG p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN B-Raf 600 Protein kinase. OM_00052A F BRAF 673 broad.mit.edu 36 7 140099605 140099605 + Missense_Mutation SNP A T T COLO818_SKIN Phase_I g.chr7:140099605A>T uc003vwc.2 - c.1799T>A c.(1798-1800)GTG>GAG p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN B-Raf 600 Protein kinase. OM_00052A F BRAF 673 broad.mit.edu 36 7 140099605 140099605 + Missense_Mutation SNP A T T COLO849_SKIN Phase_I g.chr7:140099605A>T uc003vwc.2 - c.1799T>A c.(1798-1800)GTG>GAG p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN B-Raf 600 Protein kinase. OM_00052A F BRAF 673 broad.mit.edu 36 7 140099605 140099605 + Missense_Mutation SNP A T T BT474_BREAST Phase_I g.chr7:140099605A>T uc003vwc.2 - c.1799T>A c.(1798-1800)GTG>GAG p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN B-Raf 600 Protein kinase. OM_00052A F BRAF 673 broad.mit.edu 36 7 140099605 140099605 + Missense_Mutation SNP A T T ES2_OVARY Phase_I g.chr7:140099605A>T uc003vwc.2 - c.1799T>A c.(1798-1800)GTG>GAG p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN B-Raf 600 Protein kinase. OM_00052A F BRAF 673 broad.mit.edu 36 7 140099605 140099605 + Missense_Mutation SNP A T T COLO679_SKIN Phase_I g.chr7:140099605A>T uc003vwc.2 - c.1799T>A c.(1798-1800)GTG>GAG p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN B-Raf 600 Protein kinase. OM_00052A F BRAF 673 broad.mit.edu 36 7 140099605 140099605 + Missense_Mutation SNP A T T SH4_SKIN Phase_I g.chr7:140099605A>T uc003vwc.2 - c.1799T>A c.(1798-1800)GTG>GAG p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN B-Raf 600 Protein kinase. OM_00052A F BRAF 673 broad.mit.edu 36 7 140099605 140099605 + Missense_Mutation SNP A T T 8505C_THYROID Phase_I g.chr7:140099605A>T uc003vwc.2 - c.1799T>A c.(1798-1800)GTG>GAG p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN B-Raf 600 Protein kinase. OM_00052A F BRAF 673 broad.mit.edu 36 7 140099605 140099605 + Missense_Mutation SNP A T T UACC62_SKIN Phase_I g.chr7:140099605A>T uc003vwc.2 - c.1799T>A c.(1798-1800)GTG>GAG p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN B-Raf 600 Protein kinase. OM_00052A F BRAF 673 broad.mit.edu 36 7 140099605 140099605 + Missense_Mutation SNP A T T DBTRG05MG_CENTRAL_NERVOUS_SYSTEM Phase_I g.chr7:140099605A>T uc003vwc.2 - c.1799T>A c.(1798-1800)GTG>GAG p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN B-Raf 600 Protein kinase. OM_00052A F BRAF 673 broad.mit.edu 36 7 140099605 140099605 + Missense_Mutation SNP A T T SW1417_LARGE_INTESTINE Phase_I g.chr7:140099605A>T uc003vwc.2 - c.1799T>A c.(1798-1800)GTG>GAG p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN B-Raf 600 Protein kinase. OM_00052A F BRAF 673 broad.mit.edu 36 7 140099605 140099605 + Missense_Mutation SNP A T T A2058_SKIN Phase_I g.chr7:140099605A>T uc003vwc.2 - c.1799T>A c.(1798-1800)GTG>GAG p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN B-Raf 600 Protein kinase. OM_00052A F BRAF 673 broad.mit.edu 36 7 140099605 140099605 + Missense_Mutation SNP A T T SKMEL5_SKIN Phase_I g.chr7:140099605A>T uc003vwc.2 - c.1799T>A c.(1798-1800)GTG>GAG p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN B-Raf 600 Protein kinase. OM_00052A F BRAF 673 broad.mit.edu 36 7 140099605 140099605 + Missense_Mutation SNP A T T COLO783_SKIN Phase_I g.chr7:140099605A>T uc003vwc.2 - c.1799T>A c.(1798-1800)GTG>GAG p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN B-Raf 600 Protein kinase. OM_00052A F BRAF 673 broad.mit.edu 36 7 140099605 140099605 + Missense_Mutation SNP A T T AM38_CENTRAL_NERVOUS_SYSTEM Phase_I g.chr7:140099605A>T uc003vwc.2 - c.1799T>A c.(1798-1800)GTG>GAG p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN B-Raf 600 Protein kinase. OM_00052A F BRAF 673 broad.mit.edu 36 7 140099605 140099605 + Missense_Mutation SNP A T T RKO_LARGE_INTESTINE Phase_I g.chr7:140099605A>T uc003vwc.2 - c.1799T>A c.(1798-1800)GTG>GAG p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN B-Raf 600 Protein kinase. OM_00052A F BRAF 673 broad.mit.edu 36 7 140099605 140099605 + Missense_Mutation SNP A T T KG1C_CENTRAL_NERVOUS_SYSTEM Phase_I g.chr7:140099605A>T uc003vwc.2 - c.1799T>A c.(1798-1800)GTG>GAG p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN B-Raf 600 Protein kinase. OM_00052A F BRAF 673 broad.mit.edu 36 7 140099605 140099605 + Missense_Mutation SNP A T T IGR39_SKIN Phase_I g.chr7:140099605A>T uc003vwc.2 - c.1799T>A c.(1798-1800)GTG>GAG p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN B-Raf 600 Protein kinase. OM_00052A F BRAF 673 broad.mit.edu 36 7 140099605 140099605 + Missense_Mutation SNP A T T WM793_SKIN Phase_I g.chr7:140099605A>T uc003vwc.2 - c.1799T>A c.(1798-1800)GTG>GAG p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN B-Raf 600 Protein kinase. OM_00052A F BRAF 673 broad.mit.edu 36 7 140099605 140099605 + Missense_Mutation SNP A T T OUMS23_LARGE_INTESTINE Phase_I g.chr7:140099605A>T uc003vwc.2 - c.1799T>A c.(1798-1800)GTG>GAG p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN B-Raf 600 Protein kinase. OM_00052A F BRAF 673 broad.mit.edu 36 7 140099605 140099605 + Missense_Mutation SNP A T T IGR1_SKIN Phase_I g.chr7:140099605A>T uc003vwc.2 - c.1799T>A c.(1798-1800)GTG>GAG p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN B-Raf 600 Protein kinase. OM_00052A F BRAF 673 broad.mit.edu 36 7 140099605 140099605 + Missense_Mutation SNP A T T HS939T_SKIN Phase_I g.chr7:140099605A>T uc003vwc.2 - c.1799T>A c.(1798-1800)GTG>GAG p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN B-Raf 600 Protein kinase. OM_00052A F BRAF 673 broad.mit.edu 36 7 140099605 140099605 + Missense_Mutation SNP A T T A101D_SKIN Phase_I g.chr7:140099605A>T uc003vwc.2 - c.1799T>A c.(1798-1800)GTG>GAG p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN B-Raf 600 Protein kinase. OM_00052A F BRAF 673 broad.mit.edu 36 7 140099605 140099605 + Missense_Mutation SNP A T T BHT101_THYROID Phase_I g.chr7:140099605A>T uc003vwc.2 - c.1799T>A c.(1798-1800)GTG>GAG p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN B-Raf 600 Protein kinase. OM_00052A F BRAF 673 broad.mit.edu 36 7 140099605 140099605 + Missense_Mutation SNP A T T SNUC5_LARGE_INTESTINE Phase_I g.chr7:140099605A>T uc003vwc.2 - c.1799T>A c.(1798-1800)GTG>GAG p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN B-Raf 600 Protein kinase. OM_00052A F BRAF 673 broad.mit.edu 36 7 140099605 140099605 + Missense_Mutation SNP A T T SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE Phase_I g.chr7:140099605A>T uc003vwc.2 - c.1799T>A c.(1798-1800)GTG>GAG p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN B-Raf 600 Protein kinase. OM_00052A F BRAF 673 broad.mit.edu 36 7 140099605 140099605 + Missense_Mutation SNP A T T BCPAP_THYROID Phase_I g.chr7:140099605A>T uc003vwc.2 - c.1799T>A c.(1798-1800)GTG>GAG p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN B-Raf 600 Protein kinase. OM_00052A F BRAF 673 broad.mit.edu 36 7 140099605 140099605 + Missense_Mutation SNP A T T NCIH854_LUNG Phase_I g.chr7:140099605A>T uc003vwc.2 - c.1799T>A c.(1798-1800)GTG>GAG p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN B-Raf 600 Protein kinase. OM_00052A F BRAF 673 broad.mit.edu 36 7 140099605 140099605 + Missense_Mutation SNP A T T JHOM2B_OVARY Phase_I g.chr7:140099605A>T uc003vwc.2 - c.1799T>A c.(1798-1800)GTG>GAG p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN B-Raf 600 Protein kinase. OM_00052A F BRAF 673 broad.mit.edu 36 7 140099605 140099605 + Missense_Mutation SNP A T T 8305C_THYROID Phase_I g.chr7:140099605A>T uc003vwc.2 - c.1799T>A c.(1798-1800)GTG>GAG p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN B-Raf 600 Protein kinase. OM_00052A F BRAF 673 broad.mit.edu 36 7 140099605 140099605 + Missense_Mutation SNP A T T WM88_SKIN Phase_I g.chr7:140099605A>T uc003vwc.2 - c.1799T>A c.(1798-1800)GTG>GAG p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN B-Raf 600 Protein kinase. OM_00052A F BRAF 673 broad.mit.edu 36 7 140099605 140099605 + Missense_Mutation SNP A T T HT29_LARGE_INTESTINE Phase_I g.chr7:140099605A>T uc003vwc.2 - c.1799T>A c.(1798-1800)GTG>GAG p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN B-Raf 600 Protein kinase. OM_00052A F BRAF 673 broad.mit.edu 36 7 140099605 140099605 + Missense_Mutation SNP A T T SKMEL1_SKIN Phase_I g.chr7:140099605A>T uc003vwc.2 - c.1799T>A c.(1798-1800)GTG>GAG p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN B-Raf 600 Protein kinase. OM_00052A F BRAF 673 broad.mit.edu 36 7 140099605 140099605 + Missense_Mutation SNP A T T MALME3M_SKIN Phase_I g.chr7:140099605A>T uc003vwc.2 - c.1799T>A c.(1798-1800)GTG>GAG p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN B-Raf 600 Protein kinase. OM_00052A F BRAF 673 broad.mit.edu 36 7 140099605 140099605 + Missense_Mutation SNP A T T MDAMB435S_SKIN Phase_I g.chr7:140099605A>T uc003vwc.2 - c.1799T>A c.(1798-1800)GTG>GAG p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN B-Raf 600 Protein kinase. OM_00052A F BRAF 673 broad.mit.edu 36 7 140099605 140099605 + Missense_Mutation SNP A T T CL34_LARGE_INTESTINE Phase_I g.chr7:140099605A>T uc003vwc.2 - c.1799T>A c.(1798-1800)GTG>GAG p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN B-Raf 600 Protein kinase. OM_00052A F BRAF 673 broad.mit.edu 36 7 140099605 140099605 + Missense_Mutation SNP A T T WM1799_SKIN Phase_I g.chr7:140099605A>T uc003vwc.2 - c.1799T>A c.(1798-1800)GTG>GAG p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN B-Raf 600 Protein kinase. OM_00052A F BRAF 673 broad.mit.edu 36 7 140099605 140099605 + Missense_Mutation SNP A T T COLO205_LARGE_INTESTINE Phase_I g.chr7:140099605A>T uc003vwc.2 - c.1799T>A c.(1798-1800)GTG>GAG p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN B-Raf 600 Protein kinase. OM_00052A F BRAF 673 broad.mit.edu 36 7 140099605 140099605 + Missense_Mutation SNP A T T COLO741_SKIN Phase_I g.chr7:140099605A>T uc003vwc.2 - c.1799T>A c.(1798-1800)GTG>GAG p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN B-Raf 600 Protein kinase. OM_00052A F BRAF 673 broad.mit.edu 36 7 140099605 140099605 + Missense_Mutation SNP A T T WM983B_SKIN Phase_I g.chr7:140099605A>T uc003vwc.2 - c.1799T>A c.(1798-1800)GTG>GAG p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN B-Raf 600 Protein kinase. OM_00052A F BRAF 673 broad.mit.edu 36 7 140099605 140099605 + Missense_Mutation SNP A T T RVH421_SKIN Phase_I g.chr7:140099605A>T uc003vwc.2 - c.1799T>A c.(1798-1800)GTG>GAG p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN B-Raf 600 Protein kinase. OM_00052A F BRAF 673 broad.mit.edu 36 7 140099601 140099601 + Missense_Mutation SNP T A A U266B1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE Phase_I g.chr7:140099601T>A uc003vwc.2 - c.1803A>T c.(1801-1803)AAA>AAT p.K601N NM_004333 NP_004324 P15056 BRAF_HUMAN B-Raf 601 Protein kinase. OM_00055 R EGFR 1956 broad.mit.edu 36 7 55209959 55209973 + In_Frame_Del DEL GGAATTAAGAGAAGC - - PC14_LUNG Phase_I g.chr7:55209959_55209973delGGAATTAAGAGAAGC uc003tqk.1 + c.2235_2249delGGAATTAAGAGAAGC c.(2233-2250)AAGGAATTAAGAGAAGCA>AAA p.ELREA746del EGFR_uc010kzg.1_In_Frame_Del_p.ELREA701del NM_005228 NP_005219 P00533 EGFR_HUMAN epidermal growth factor receptor isoform a 746_750 Cytoplasmic (Potential).|Protein kinase. OM_00069 F EGFR 1956 broad.mit.edu 36 7 55209959 55209973 + In_Frame_Del DEL GGAATTAAGAGAAGC - - NCIH1650_LUNG Phase_I g.chr7:55209959_55209973delGGAATTAAGAGAAGC uc003tqk.1 + c.2235_2249delGGAATTAAGAGAAGC c.(2233-2250)AAGGAATTAAGAGAAGCA>AAA p.ELREA746del EGFR_uc010kzg.1_In_Frame_Del_p.ELREA701del NM_005228 NP_005219 P00533 EGFR_HUMAN epidermal growth factor receptor isoform a 746_750 Cytoplasmic (Potential).|Protein kinase. OM_00069 F EGFR 1956 broad.mit.edu 36 7 55209959 55209973 + In_Frame_Del DEL GGAATTAAGAGAAGC - - HCC2935_LUNG Phase_I g.chr7:55209959_55209973delGGAATTAAGAGAAGC uc003tqk.1 + c.2235_2249delGGAATTAAGAGAAGC c.(2233-2250)AAGGAATTAAGAGAAGCA>AAA p.ELREA746del EGFR_uc010kzg.1_In_Frame_Del_p.ELREA701del NM_005228 NP_005219 P00533 EGFR_HUMAN epidermal growth factor receptor isoform a 746_750 Cytoplasmic (Potential).|Protein kinase. OM_00069 F EGFR 1956 broad.mit.edu 36 7 55216565 55216565 + Missense_Mutation SNP C T T NCIH1975_LUNG Phase_I g.chr7:55216565C>T uc003tqk.1 + c.2369C>T c.(2368-2370)ACG>ATG p.T790M EGFR_uc010kzg.1_Missense_Mutation_p.T745M NM_005228 NP_005219 P00533 EGFR_HUMAN epidermal growth factor receptor isoform a 790 Cytoplasmic (Potential).|Protein kinase. OM_00107A F EGFR 1956 broad.mit.edu 36 7 55216565 55216565 + Missense_Mutation SNP C T T NCIH1975_LUNG Phase_I g.chr7:55216565C>T uc003tqk.1 + c.2369C>T c.(2368-2370)ACG>ATG p.T790M EGFR_uc010kzg.1_Missense_Mutation_p.T745M NM_005228 NP_005219 P00533 EGFR_HUMAN epidermal growth factor receptor isoform a 790 Cytoplasmic (Potential).|Protein kinase. OM_00107B R EGFR 1956 broad.mit.edu 36 7 55227009 55227009 + Missense_Mutation SNP T G G NCIH1975_LUNG Phase_I g.chr7:55227009T>G uc003tqk.1 + c.2573T>G c.(2572-2574)CTG>CGG p.L858R EGFR_uc010kzg.1_Missense_Mutation_p.L813R NM_005228 NP_005219 P00533 EGFR_HUMAN epidermal growth factor receptor isoform a 858 Cytoplasmic (Potential).|Protein kinase. OM_00108A F EGFR 1956 broad.mit.edu 36 7 55227009 55227009 + Missense_Mutation SNP T G G NCIH3255_LUNG Phase_I g.chr7:55227009T>G uc003tqk.1 + c.2573T>G c.(2572-2574)CTG>CGG p.L858R EGFR_uc010kzg.1_Missense_Mutation_p.L813R NM_005228 NP_005219 P00533 EGFR_HUMAN epidermal growth factor receptor isoform a 858 Cytoplasmic (Potential).|Protein kinase. OM_00108A F EGFR 1956 broad.mit.edu 36 7 55227009 55227009 + Missense_Mutation SNP T G G NCIH1975_LUNG Phase_I g.chr7:55227009T>G uc003tqk.1 + c.2573T>G c.(2572-2574)CTG>CGG p.L858R EGFR_uc010kzg.1_Missense_Mutation_p.L813R NM_005228 NP_005219 P00533 EGFR_HUMAN epidermal growth factor receptor isoform a 858 Cytoplasmic (Potential).|Protein kinase. OM_00108B R EGFR 1956 broad.mit.edu 36 7 55209201 55209201 + Missense_Mutation SNP G A A rs28929495 unknown SW48_LARGE_INTESTINE Phase_I g.chr7:55209201G>A uc003tqk.1 + c.2155G>A c.(2155-2157)GGC>AGC p.G719S EGFR_uc010kzg.1_Missense_Mutation_p.G674S NM_005228 NP_005219 P00533 EGFR_HUMAN epidermal growth factor receptor isoform a 719 Cytoplasmic (Potential).|ATP (By similarity).|Protein kinase. OM_00112 F FGFR1 2260 broad.mit.edu 36 8 38405095 38405095 + Missense_Mutation SNP G A A HCC1395_BREAST Phase_I g.chr8:38405095G>A uc010lwg.1 - c.374C>T c.(373-375)TCG>TTG p.S125L FGFR1_uc010lwh.1_Missense_Mutation_p.S125L|FGFR1_uc010lwi.1_Missense_Mutation_p.S36L|FGFR1_uc010lwj.1_Missense_Mutation_p.S36L|FGFR1_uc010lwk.1_Missense_Mutation_p.S117L|FGFR1_uc003xlp.1_Missense_Mutation_p.S125L|FGFR1_uc003xlt.2_5'UTR|FGFR1_uc010lwl.1_Missense_Mutation_p.S158L|FGFR1_uc010lwm.1_Missense_Mutation_p.S125L|FGFR1_uc010lwn.1_Missense_Mutation_p.S36L|FGFR1_uc003xlu.1_Missense_Mutation_p.S36L|FGFR1_uc003xlv.1_Missense_Mutation_p.S36L|FGFR1_uc003xlw.1_Non-coding_Transcript NM_023110 NP_075598 P11362 FGFR1_HUMAN fibroblast growth factor receptor 1 isoform 1 125 Extracellular (Potential). OM_00127 F FGFR3 2261 broad.mit.edu 36 4 1773362 1773362 + Missense_Mutation SNP C T T 639V_URINARY_TRACT Phase_I g.chr4:1773362C>T uc003gdr.2 + c.742C>T c.(742-744)CGC>TGC p.R248C FGFR3_uc003gds.2_Missense_Mutation_p.R248C|FGFR3_uc003gdq.2_Missense_Mutation_p.R248C|FGFR3_uc010icb.1_Missense_Mutation_p.R90C|FGFR3_uc003gdt.1_Missense_Mutation_p.R90C NM_000142 NP_000133 P22607 FGFR3_HUMAN fibroblast growth factor receptor 3 isoform 1 248 Extracellular (Potential). OM_00129A F FGFR3 2261 broad.mit.edu 36 4 1775897 1775897 + Missense_Mutation SNP A G G KMS11_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE Phase_I g.chr4:1775897A>G uc003gdr.2 + c.1118A>G c.(1117-1119)TAT>TGT p.Y373C FGFR3_uc003gds.2_Intron|FGFR3_uc003gdq.2_Missense_Mutation_p.Y373C NM_000142 NP_000133 P22607 FGFR3_HUMAN fibroblast growth factor receptor 3 isoform 1 373 Extracellular (Potential). OM_00132B R HRAS 3265 broad.mit.edu 36 11 524288 524288 + Missense_Mutation SNP C A A T24_URINARY_TRACT Phase_I g.chr11:524288C>A uc001lpv.1 - c.35G>T c.(34-36)GGC>GTC p.G12V HRAS_uc001lpu.1_Missense_Mutation_p.G12V NM_005343 NP_005334 P01112 RASH_HUMAN v-Ha-ras Harvey rat sarcoma viral oncogene 12 GTP. OM_00138A F HRAS 3265 broad.mit.edu 36 11 524288 524288 + Missense_Mutation SNP C T T HS578T_BREAST Phase_I g.chr11:524288C>T uc001lpv.1 - c.35G>A c.(34-36)GGC>GAC p.G12D HRAS_uc001lpu.1_Missense_Mutation_p.G12D NM_005343 NP_005334 P01112 RASH_HUMAN v-Ha-ras Harvey rat sarcoma viral oncogene 12 GTP. OM_00139 F HRAS 3265 broad.mit.edu 36 11 524286 524286 + Missense_Mutation SNP C T T KASUMI2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE Phase_I g.chr11:524286C>T uc001lpv.1 - c.37G>A c.(37-39)GGT>AGT p.G13S HRAS_uc001lpu.1_Missense_Mutation_p.G13S NM_005343 NP_005334 P01112 RASH_HUMAN v-Ha-ras Harvey rat sarcoma viral oncogene 13 GTP. OM_00146 F HRAS 3265 broad.mit.edu 36 11 523873 523873 + Missense_Mutation SNP C A A RL952_ENDOMETRIUM Phase_I g.chr11:523873C>A uc001lpv.1 - c.183G>T c.(181-183)CAG>CAT p.Q61H HRAS_uc001lpu.1_Missense_Mutation_p.Q61H NM_005343 NP_005334 P01112 RASH_HUMAN v-Ha-ras Harvey rat sarcoma viral oncogene 61 GTP. OM_00150 F HRAS 3265 broad.mit.edu 36 11 523874 523874 + Missense_Mutation SNP T A A NCIH1915_LUNG Phase_I g.chr11:523874T>A uc001lpv.1 - c.182A>T c.(181-183)CAG>CTG p.Q61L HRAS_uc001lpu.1_Missense_Mutation_p.Q61L NM_005343 NP_005334 P01112 RASH_HUMAN v-Ha-ras Harvey rat sarcoma viral oncogene 61 GTP. OM_00151A F HRAS 3265 broad.mit.edu 36 11 523874 523874 + Missense_Mutation SNP T A A KYSE30_OESOPHAGUS Phase_I g.chr11:523874T>A uc001lpv.1 - c.182A>T c.(181-183)CAG>CTG p.Q61L HRAS_uc001lpu.1_Missense_Mutation_p.Q61L NM_005343 NP_005334 P01112 RASH_HUMAN v-Ha-ras Harvey rat sarcoma viral oncogene 61 GTP. OM_00151B R HRAS 3265 broad.mit.edu 36 11 523874 523874 + Missense_Mutation SNP T A A CJM_SKIN Phase_I g.chr11:523874T>A uc001lpv.1 - c.182A>T c.(181-183)CAG>CTG p.Q61L HRAS_uc001lpu.1_Missense_Mutation_p.Q61L NM_005343 NP_005334 P01112 RASH_HUMAN v-Ha-ras Harvey rat sarcoma viral oncogene 61 GTP. OM_00151B R HRAS 3265 broad.mit.edu 36 11 523874 523874 + Missense_Mutation SNP T A A KNS62_LUNG Phase_I g.chr11:523874T>A uc001lpv.1 - c.182A>T c.(181-183)CAG>CTG p.Q61L HRAS_uc001lpu.1_Missense_Mutation_p.Q61L NM_005343 NP_005334 P01112 RASH_HUMAN v-Ha-ras Harvey rat sarcoma viral oncogene 61 GTP. OM_00151B R HRAS 3265 broad.mit.edu 36 11 523874 523874 + Missense_Mutation SNP T A A HCC1588_LUNG Phase_I g.chr11:523874T>A uc001lpv.1 - c.182A>T c.(181-183)CAG>CTG p.Q61L HRAS_uc001lpu.1_Missense_Mutation_p.Q61L NM_005343 NP_005334 P01112 RASH_HUMAN v-Ha-ras Harvey rat sarcoma viral oncogene 61 GTP. OM_00151B R HRAS 3265 broad.mit.edu 36 11 523874 523874 + Missense_Mutation SNP T C C G292CLONEA141B1_BONE Phase_I g.chr11:523874T>C uc001lpv.1 - c.182A>G c.(181-183)CAG>CGG p.Q61R HRAS_uc001lpu.1_Missense_Mutation_p.Q61R NM_005343 NP_005334 P01112 RASH_HUMAN v-Ha-ras Harvey rat sarcoma viral oncogene 61 GTP. OM_00152A F JAK2 3717 broad.mit.edu 36 9 5063770 5063770 + Missense_Mutation SNP G T T HEL9217_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE Phase_I g.chr9:5063770G>T uc010mhm.1 + c.1849G>T c.(1849-1851)GTC>TTC p.V617F JAK2_uc003ziw.1_Missense_Mutation_p.V617F NM_004972 NP_004963 O60674 JAK2_HUMAN Janus kinase 2 617 Protein kinase 1. OM_00154A F JAK2 3717 broad.mit.edu 36 9 5063770 5063770 + Missense_Mutation SNP G T T HEL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE Phase_I g.chr9:5063770G>T uc010mhm.1 + c.1849G>T c.(1849-1851)GTC>TTC p.V617F JAK2_uc003ziw.1_Missense_Mutation_p.V617F NM_004972 NP_004963 O60674 JAK2_HUMAN Janus kinase 2 617 Protein kinase 1. OM_00154A F JAK2 3717 broad.mit.edu 36 9 5063770 5063770 + Missense_Mutation SNP G T T SET2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE Phase_I g.chr9:5063770G>T uc010mhm.1 + c.1849G>T c.(1849-1851)GTC>TTC p.V617F JAK2_uc003ziw.1_Missense_Mutation_p.V617F NM_004972 NP_004963 O60674 JAK2_HUMAN Janus kinase 2 617 Protein kinase 1. OM_00154A F KRAS 3845 broad.mit.edu 36 12 25289551 25289551 + Missense_Mutation SNP C A A PATU8988S_PANCREAS Phase_I g.chr12:25289551C>A uc001rgp.1 - c.35G>T c.(34-36)GGT>GTT p.G12V KRAS_uc001rgq.1_Missense_Mutation_p.G12V|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00188A F KRAS 3845 broad.mit.edu 36 12 25289551 25289551 + Missense_Mutation SNP C A A SNU213_PANCREAS Phase_I g.chr12:25289551C>A uc001rgp.1 - c.35G>T c.(34-36)GGT>GTT p.G12V KRAS_uc001rgq.1_Missense_Mutation_p.G12V|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00188A F KRAS 3845 broad.mit.edu 36 12 25289551 25289551 + Missense_Mutation SNP C A A YAPC_PANCREAS Phase_I g.chr12:25289551C>A uc001rgp.1 - c.35G>T c.(34-36)GGT>GTT p.G12V KRAS_uc001rgq.1_Missense_Mutation_p.G12V|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00188A F KRAS 3845 broad.mit.edu 36 12 25289551 25289551 + Missense_Mutation SNP C A A CAPAN1_PANCREAS Phase_I g.chr12:25289551C>A uc001rgp.1 - c.35G>T c.(34-36)GGT>GTT p.G12V KRAS_uc001rgq.1_Missense_Mutation_p.G12V|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00188A F KRAS 3845 broad.mit.edu 36 12 25289551 25289551 + Missense_Mutation SNP C A A SW900_LUNG Phase_I g.chr12:25289551C>A uc001rgp.1 - c.35G>T c.(34-36)GGT>GTT p.G12V KRAS_uc001rgq.1_Missense_Mutation_p.G12V|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00188A F KRAS 3845 broad.mit.edu 36 12 25289551 25289551 + Missense_Mutation SNP C A A DANG_PANCREAS Phase_I g.chr12:25289551C>A uc001rgp.1 - c.35G>T c.(34-36)GGT>GTT p.G12V KRAS_uc001rgq.1_Missense_Mutation_p.G12V|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00188A F KRAS 3845 broad.mit.edu 36 12 25289551 25289551 + Missense_Mutation SNP C A A RKN_SOFT_TISSUE Phase_I g.chr12:25289551C>A uc001rgp.1 - c.35G>T c.(34-36)GGT>GTT p.G12V KRAS_uc001rgq.1_Missense_Mutation_p.G12V|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00188A F KRAS 3845 broad.mit.edu 36 12 25289551 25289551 + Missense_Mutation SNP C A A RERFLCAD2_LUNG Phase_I g.chr12:25289551C>A uc001rgp.1 - c.35G>T c.(34-36)GGT>GTT p.G12V KRAS_uc001rgq.1_Missense_Mutation_p.G12V|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00188A F KRAS 3845 broad.mit.edu 36 12 25289551 25289551 + Missense_Mutation SNP C A A CAPAN2_PANCREAS Phase_I g.chr12:25289551C>A uc001rgp.1 - c.35G>T c.(34-36)GGT>GTT p.G12V KRAS_uc001rgq.1_Missense_Mutation_p.G12V|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00188A F KRAS 3845 broad.mit.edu 36 12 25289551 25289551 + Missense_Mutation SNP C A A CFPAC1_PANCREAS Phase_I g.chr12:25289551C>A uc001rgp.1 - c.35G>T c.(34-36)GGT>GTT p.G12V KRAS_uc001rgq.1_Missense_Mutation_p.G12V|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00188A F KRAS 3845 broad.mit.edu 36 12 25289551 25289551 + Missense_Mutation SNP C A A A498_KIDNEY Phase_I g.chr12:25289551C>A uc001rgp.1 - c.35G>T c.(34-36)GGT>GTT p.G12V KRAS_uc001rgq.1_Missense_Mutation_p.G12V|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00188A F KRAS 3845 broad.mit.edu 36 12 25289551 25289551 + Missense_Mutation SNP C A A COLO668_LUNG Phase_I g.chr12:25289551C>A uc001rgp.1 - c.35G>T c.(34-36)GGT>GTT p.G12V KRAS_uc001rgq.1_Missense_Mutation_p.G12V|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00188A F KRAS 3845 broad.mit.edu 36 12 25289551 25289551 + Missense_Mutation SNP C A A QGP1_PANCREAS Phase_I g.chr12:25289551C>A uc001rgp.1 - c.35G>T c.(34-36)GGT>GTT p.G12V KRAS_uc001rgq.1_Missense_Mutation_p.G12V|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00188A F KRAS 3845 broad.mit.edu 36 12 25289551 25289551 + Missense_Mutation SNP C A A SW480_LARGE_INTESTINE Phase_I g.chr12:25289551C>A uc001rgp.1 - c.35G>T c.(34-36)GGT>GTT p.G12V KRAS_uc001rgq.1_Missense_Mutation_p.G12V|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00188A F KRAS 3845 broad.mit.edu 36 12 25289551 25289551 + Missense_Mutation SNP C A A PATU8902_PANCREAS Phase_I g.chr12:25289551C>A uc001rgp.1 - c.35G>T c.(34-36)GGT>GTT p.G12V KRAS_uc001rgq.1_Missense_Mutation_p.G12V|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00188A F KRAS 3845 broad.mit.edu 36 12 25289551 25289551 + Missense_Mutation SNP C A A NCIH441_LUNG Phase_I g.chr12:25289551C>A uc001rgp.1 - c.35G>T c.(34-36)GGT>GTT p.G12V KRAS_uc001rgq.1_Missense_Mutation_p.G12V|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00188A F KRAS 3845 broad.mit.edu 36 12 25289551 25289551 + Missense_Mutation SNP C A A PANC0327_PANCREAS Phase_I g.chr12:25289551C>A uc001rgp.1 - c.35G>T c.(34-36)GGT>GTT p.G12V KRAS_uc001rgq.1_Missense_Mutation_p.G12V|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00188A F KRAS 3845 broad.mit.edu 36 12 25289551 25289551 + Missense_Mutation SNP C A A SNGM_ENDOMETRIUM Phase_I g.chr12:25289551C>A uc001rgp.1 - c.35G>T c.(34-36)GGT>GTT p.G12V KRAS_uc001rgq.1_Missense_Mutation_p.G12V|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00188A F KRAS 3845 broad.mit.edu 36 12 25289551 25289551 + Missense_Mutation SNP C A A HLC1_LUNG Phase_I g.chr12:25289551C>A uc001rgp.1 - c.35G>T c.(34-36)GGT>GTT p.G12V KRAS_uc001rgq.1_Missense_Mutation_p.G12V|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00188A F KRAS 3845 broad.mit.edu 36 12 25289551 25289551 + Missense_Mutation SNP C A A HCC56_LARGE_INTESTINE Phase_I g.chr12:25289551C>A uc001rgp.1 - c.35G>T c.(34-36)GGT>GTT p.G12V KRAS_uc001rgq.1_Missense_Mutation_p.G12V|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00188A F KRAS 3845 broad.mit.edu 36 12 25289551 25289551 + Missense_Mutation SNP C A A SW620_LARGE_INTESTINE Phase_I g.chr12:25289551C>A uc001rgp.1 - c.35G>T c.(34-36)GGT>GTT p.G12V KRAS_uc001rgq.1_Missense_Mutation_p.G12V|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00188A F KRAS 3845 broad.mit.edu 36 12 25289551 25289551 + Missense_Mutation SNP C A A KP3_PANCREAS Phase_I g.chr12:25289551C>A uc001rgp.1 - c.35G>T c.(34-36)GGT>GTT p.G12V KRAS_uc001rgq.1_Missense_Mutation_p.G12V|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00188A F KRAS 3845 broad.mit.edu 36 12 25289551 25289551 + Missense_Mutation SNP C A A CORL23_LUNG Phase_I g.chr12:25289551C>A uc001rgp.1 - c.35G>T c.(34-36)GGT>GTT p.G12V KRAS_uc001rgq.1_Missense_Mutation_p.G12V|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00188A F KRAS 3845 broad.mit.edu 36 12 25289551 25289551 + Missense_Mutation SNP C A A SH10TC_STOMACH Phase_I g.chr12:25289551C>A uc001rgp.1 - c.35G>T c.(34-36)GGT>GTT p.G12V KRAS_uc001rgq.1_Missense_Mutation_p.G12V|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00188A F KRAS 3845 broad.mit.edu 36 12 25289551 25289551 + Missense_Mutation SNP C A A SW403_LARGE_INTESTINE Phase_I g.chr12:25289551C>A uc001rgp.1 - c.35G>T c.(34-36)GGT>GTT p.G12V KRAS_uc001rgq.1_Missense_Mutation_p.G12V|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00188A F KRAS 3845 broad.mit.edu 36 12 25289551 25289551 + Missense_Mutation SNP C A A HMC18_BREAST Phase_I g.chr12:25289551C>A uc001rgp.1 - c.35G>T c.(34-36)GGT>GTT p.G12V KRAS_uc001rgq.1_Missense_Mutation_p.G12V|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00188A F KRAS 3845 broad.mit.edu 36 12 25289551 25289551 + Missense_Mutation SNP C A A LCLC97TM1_LUNG Phase_I g.chr12:25289551C>A uc001rgp.1 - c.35G>T c.(34-36)GGT>GTT p.G12V KRAS_uc001rgq.1_Missense_Mutation_p.G12V|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00188A F KRAS 3845 broad.mit.edu 36 12 25289551 25289551 + Missense_Mutation SNP C A A HUPT4_PANCREAS Phase_I g.chr12:25289551C>A uc001rgp.1 - c.35G>T c.(34-36)GGT>GTT p.G12V KRAS_uc001rgq.1_Missense_Mutation_p.G12V|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00188A F KRAS 3845 broad.mit.edu 36 12 25289551 25289551 + Missense_Mutation SNP C A A NCIH2444_LUNG Phase_I g.chr12:25289551C>A uc001rgp.1 - c.35G>T c.(34-36)GGT>GTT p.G12V KRAS_uc001rgq.1_Missense_Mutation_p.G12V|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00188A F KRAS 3845 broad.mit.edu 36 12 25289551 25289551 + Missense_Mutation SNP C A A PATU8988T_PANCREAS Phase_I g.chr12:25289551C>A uc001rgp.1 - c.35G>T c.(34-36)GGT>GTT p.G12V KRAS_uc001rgq.1_Missense_Mutation_p.G12V|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00188A F KRAS 3845 broad.mit.edu 36 12 25289551 25289551 + Missense_Mutation SNP C A A CAPAN2_PANCREAS Phase_I g.chr12:25289551C>A uc001rgp.1 - c.35G>T c.(34-36)GGT>GTT p.G12V KRAS_uc001rgq.1_Missense_Mutation_p.G12V|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00188B R KRAS 3845 broad.mit.edu 36 12 25289551 25289551 + Missense_Mutation SNP C A A PATU8902_PANCREAS Phase_I g.chr12:25289551C>A uc001rgp.1 - c.35G>T c.(34-36)GGT>GTT p.G12V KRAS_uc001rgq.1_Missense_Mutation_p.G12V|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00188B R KRAS 3845 broad.mit.edu 36 12 25289551 25289551 + Missense_Mutation SNP C A A LCLC97TM1_LUNG Phase_I g.chr12:25289551C>A uc001rgp.1 - c.35G>T c.(34-36)GGT>GTT p.G12V KRAS_uc001rgq.1_Missense_Mutation_p.G12V|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00188B R KRAS 3845 broad.mit.edu 36 12 25289551 25289551 + Missense_Mutation SNP C A A QGP1_PANCREAS Phase_I g.chr12:25289551C>A uc001rgp.1 - c.35G>T c.(34-36)GGT>GTT p.G12V KRAS_uc001rgq.1_Missense_Mutation_p.G12V|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00188B R KRAS 3845 broad.mit.edu 36 12 25289551 25289551 + Missense_Mutation SNP C A A PANC0327_PANCREAS Phase_I g.chr12:25289551C>A uc001rgp.1 - c.35G>T c.(34-36)GGT>GTT p.G12V KRAS_uc001rgq.1_Missense_Mutation_p.G12V|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00188B R KRAS 3845 broad.mit.edu 36 12 25289551 25289551 + Missense_Mutation SNP C A A SHP77_LUNG Phase_I g.chr12:25289551C>A uc001rgp.1 - c.35G>T c.(34-36)GGT>GTT p.G12V KRAS_uc001rgq.1_Missense_Mutation_p.G12V|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00188B R KRAS 3845 broad.mit.edu 36 12 25289551 25289551 + Missense_Mutation SNP C A A DANG_PANCREAS Phase_I g.chr12:25289551C>A uc001rgp.1 - c.35G>T c.(34-36)GGT>GTT p.G12V KRAS_uc001rgq.1_Missense_Mutation_p.G12V|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00188B R KRAS 3845 broad.mit.edu 36 12 25289551 25289551 + Missense_Mutation SNP C A A SW620_LARGE_INTESTINE Phase_I g.chr12:25289551C>A uc001rgp.1 - c.35G>T c.(34-36)GGT>GTT p.G12V KRAS_uc001rgq.1_Missense_Mutation_p.G12V|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00188B R KRAS 3845 broad.mit.edu 36 12 25289551 25289551 + Missense_Mutation SNP C A A HCC56_LARGE_INTESTINE Phase_I g.chr12:25289551C>A uc001rgp.1 - c.35G>T c.(34-36)GGT>GTT p.G12V KRAS_uc001rgq.1_Missense_Mutation_p.G12V|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00188B R KRAS 3845 broad.mit.edu 36 12 25289551 25289551 + Missense_Mutation SNP C A A HUPT4_PANCREAS Phase_I g.chr12:25289551C>A uc001rgp.1 - c.35G>T c.(34-36)GGT>GTT p.G12V KRAS_uc001rgq.1_Missense_Mutation_p.G12V|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00188B R KRAS 3845 broad.mit.edu 36 12 25289551 25289551 + Missense_Mutation SNP C A A RCM1_LARGE_INTESTINE Phase_I g.chr12:25289551C>A uc001rgp.1 - c.35G>T c.(34-36)GGT>GTT p.G12V KRAS_uc001rgq.1_Missense_Mutation_p.G12V|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00188B R KRAS 3845 broad.mit.edu 36 12 25289551 25289551 + Missense_Mutation SNP C A A NCIH727_LUNG Phase_I g.chr12:25289551C>A uc001rgp.1 - c.35G>T c.(34-36)GGT>GTT p.G12V KRAS_uc001rgq.1_Missense_Mutation_p.G12V|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00188B R KRAS 3845 broad.mit.edu 36 12 25289551 25289551 + Missense_Mutation SNP C A A CFPAC1_PANCREAS Phase_I g.chr12:25289551C>A uc001rgp.1 - c.35G>T c.(34-36)GGT>GTT p.G12V KRAS_uc001rgq.1_Missense_Mutation_p.G12V|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00188B R KRAS 3845 broad.mit.edu 36 12 25289551 25289551 + Missense_Mutation SNP C A A SW403_LARGE_INTESTINE Phase_I g.chr12:25289551C>A uc001rgp.1 - c.35G>T c.(34-36)GGT>GTT p.G12V KRAS_uc001rgq.1_Missense_Mutation_p.G12V|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00188B R KRAS 3845 broad.mit.edu 36 12 25289551 25289551 + Missense_Mutation SNP C A A NCIH441_LUNG Phase_I g.chr12:25289551C>A uc001rgp.1 - c.35G>T c.(34-36)GGT>GTT p.G12V KRAS_uc001rgq.1_Missense_Mutation_p.G12V|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00188B R KRAS 3845 broad.mit.edu 36 12 25289551 25289551 + Missense_Mutation SNP C A A CORL23_LUNG Phase_I g.chr12:25289551C>A uc001rgp.1 - c.35G>T c.(34-36)GGT>GTT p.G12V KRAS_uc001rgq.1_Missense_Mutation_p.G12V|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00188B R KRAS 3845 broad.mit.edu 36 12 25289551 25289551 + Missense_Mutation SNP C A A A498_KIDNEY Phase_I g.chr12:25289551C>A uc001rgp.1 - c.35G>T c.(34-36)GGT>GTT p.G12V KRAS_uc001rgq.1_Missense_Mutation_p.G12V|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00188B R KRAS 3845 broad.mit.edu 36 12 25289552 25289552 + Missense_Mutation SNP C T T A549_LUNG Phase_I g.chr12:25289552C>T uc001rgp.1 - c.34G>A c.(34-36)GGT>AGT p.G12S KRAS_uc001rgq.1_Missense_Mutation_p.G12S|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00189A F KRAS 3845 broad.mit.edu 36 12 25289552 25289552 + Missense_Mutation SNP C T T LS123_LARGE_INTESTINE Phase_I g.chr12:25289552C>T uc001rgp.1 - c.34G>A c.(34-36)GGT>AGT p.G12S KRAS_uc001rgq.1_Missense_Mutation_p.G12S|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00189A F KRAS 3845 broad.mit.edu 36 12 25289552 25289552 + Missense_Mutation SNP C T T KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE Phase_I g.chr12:25289552C>T uc001rgp.1 - c.34G>A c.(34-36)GGT>AGT p.G12S KRAS_uc001rgq.1_Missense_Mutation_p.G12S|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00189A F KRAS 3845 broad.mit.edu 36 12 25289551 25289551 + Missense_Mutation SNP C G G NCIH1573_LUNG Phase_I g.chr12:25289551C>G uc001rgp.1 - c.35G>C c.(34-36)GGT>GCT p.G12A KRAS_uc001rgq.1_Missense_Mutation_p.G12A|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00190A F KRAS 3845 broad.mit.edu 36 12 25289551 25289551 + Missense_Mutation SNP C G G RERFLCAD1_LUNG Phase_I g.chr12:25289551C>G uc001rgp.1 - c.35G>C c.(34-36)GGT>GCT p.G12A KRAS_uc001rgq.1_Missense_Mutation_p.G12A|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00190A F KRAS 3845 broad.mit.edu 36 12 25289551 25289551 + Missense_Mutation SNP C G G MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE Phase_I g.chr12:25289551C>G uc001rgp.1 - c.35G>C c.(34-36)GGT>GCT p.G12A KRAS_uc001rgq.1_Missense_Mutation_p.G12A|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00190A F KRAS 3845 broad.mit.edu 36 12 25289551 25289551 + Missense_Mutation SNP C G G KPNSI9S_AUTONOMIC_GANGLIA Phase_I g.chr12:25289551C>G uc001rgp.1 - c.35G>C c.(34-36)GGT>GCT p.G12A KRAS_uc001rgq.1_Missense_Mutation_p.G12A|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00190A F KRAS 3845 broad.mit.edu 36 12 25289551 25289551 + Missense_Mutation SNP C G G NCIH2009_LUNG Phase_I g.chr12:25289551C>G uc001rgp.1 - c.35G>C c.(34-36)GGT>GCT p.G12A KRAS_uc001rgq.1_Missense_Mutation_p.G12A|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00190A F KRAS 3845 broad.mit.edu 36 12 25289551 25289551 + Missense_Mutation SNP C G G COLO775_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE Phase_I g.chr12:25289551C>G uc001rgp.1 - c.35G>C c.(34-36)GGT>GCT p.G12A KRAS_uc001rgq.1_Missense_Mutation_p.G12A|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00190A F KRAS 3845 broad.mit.edu 36 12 25289551 25289551 + Missense_Mutation SNP C G G RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE Phase_I g.chr12:25289551C>G uc001rgp.1 - c.35G>C c.(34-36)GGT>GCT p.G12A KRAS_uc001rgq.1_Missense_Mutation_p.G12A|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00190A F KRAS 3845 broad.mit.edu 36 12 25289551 25289551 + Missense_Mutation SNP C G G SW1116_LARGE_INTESTINE Phase_I g.chr12:25289551C>G uc001rgp.1 - c.35G>C c.(34-36)GGT>GCT p.G12A KRAS_uc001rgq.1_Missense_Mutation_p.G12A|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00190A F KRAS 3845 broad.mit.edu 36 12 25289551 25289551 + Missense_Mutation SNP C G G KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE Phase_I g.chr12:25289551C>G uc001rgp.1 - c.35G>C c.(34-36)GGT>GCT p.G12A KRAS_uc001rgq.1_Missense_Mutation_p.G12A|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00190A F KRAS 3845 broad.mit.edu 36 12 25289551 25289551 + Missense_Mutation SNP C G G RERFLCAD1_LUNG Phase_I g.chr12:25289551C>G uc001rgp.1 - c.35G>C c.(34-36)GGT>GCT p.G12A KRAS_uc001rgq.1_Missense_Mutation_p.G12A|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00190B R KRAS 3845 broad.mit.edu 36 12 25289551 25289551 + Missense_Mutation SNP C G G RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE Phase_I g.chr12:25289551C>G uc001rgp.1 - c.35G>C c.(34-36)GGT>GCT p.G12A KRAS_uc001rgq.1_Missense_Mutation_p.G12A|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00190B R KRAS 3845 broad.mit.edu 36 12 25289551 25289551 + Missense_Mutation SNP C G G MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE Phase_I g.chr12:25289551C>G uc001rgp.1 - c.35G>C c.(34-36)GGT>GCT p.G12A KRAS_uc001rgq.1_Missense_Mutation_p.G12A|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00190B R KRAS 3845 broad.mit.edu 36 12 25289551 25289551 + Missense_Mutation SNP C T T SNU1033_LARGE_INTESTINE Phase_I g.chr12:25289551C>T uc001rgp.1 - c.35G>A c.(34-36)GGT>GAT p.G12D KRAS_uc001rgq.1_Missense_Mutation_p.G12D|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00191A F KRAS 3845 broad.mit.edu 36 12 25289551 25289551 + Missense_Mutation SNP C T T PANC0203_PANCREAS Phase_I g.chr12:25289551C>T uc001rgp.1 - c.35G>A c.(34-36)GGT>GAT p.G12D KRAS_uc001rgq.1_Missense_Mutation_p.G12D|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00191A F KRAS 3845 broad.mit.edu 36 12 25289551 25289551 + Missense_Mutation SNP C T T SU8686_PANCREAS Phase_I g.chr12:25289551C>T uc001rgp.1 - c.35G>A c.(34-36)GGT>GAT p.G12D KRAS_uc001rgq.1_Missense_Mutation_p.G12D|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00191A F KRAS 3845 broad.mit.edu 36 12 25289551 25289551 + Missense_Mutation SNP C T T KCIMOH1_PANCREAS Phase_I g.chr12:25289551C>T uc001rgp.1 - c.35G>A c.(34-36)GGT>GAT p.G12D KRAS_uc001rgq.1_Missense_Mutation_p.G12D|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00191A F KRAS 3845 broad.mit.edu 36 12 25289551 25289551 + Missense_Mutation SNP C T T PK1_PANCREAS Phase_I g.chr12:25289551C>T uc001rgp.1 - c.35G>A c.(34-36)GGT>GAT p.G12D KRAS_uc001rgq.1_Missense_Mutation_p.G12D|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00191A F KRAS 3845 broad.mit.edu 36 12 25289551 25289551 + Missense_Mutation SNP C T T PANC1_PANCREAS Phase_I g.chr12:25289551C>T uc001rgp.1 - c.35G>A c.(34-36)GGT>GAT p.G12D KRAS_uc001rgq.1_Missense_Mutation_p.G12D|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00191A F KRAS 3845 broad.mit.edu 36 12 25289551 25289551 + Missense_Mutation SNP C T T GSU_STOMACH Phase_I g.chr12:25289551C>T uc001rgp.1 - c.35G>A c.(34-36)GGT>GAT p.G12D KRAS_uc001rgq.1_Missense_Mutation_p.G12D|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00191A F KRAS 3845 broad.mit.edu 36 12 25289551 25289551 + Missense_Mutation SNP C T T LS513_LARGE_INTESTINE Phase_I g.chr12:25289551C>T uc001rgp.1 - c.35G>A c.(34-36)GGT>GAT p.G12D KRAS_uc001rgq.1_Missense_Mutation_p.G12D|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00191A F KRAS 3845 broad.mit.edu 36 12 25289551 25289551 + Missense_Mutation SNP C T T PANC0813_PANCREAS Phase_I g.chr12:25289551C>T uc001rgp.1 - c.35G>A c.(34-36)GGT>GAT p.G12D KRAS_uc001rgq.1_Missense_Mutation_p.G12D|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00191A F KRAS 3845 broad.mit.edu 36 12 25289551 25289551 + Missense_Mutation SNP C T T NCIH684_LIVER Phase_I g.chr12:25289551C>T uc001rgp.1 - c.35G>A c.(34-36)GGT>GAT p.G12D KRAS_uc001rgq.1_Missense_Mutation_p.G12D|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00191A F KRAS 3845 broad.mit.edu 36 12 25289551 25289551 + Missense_Mutation SNP C T T HUCCT1_BILIARY_TRACT Phase_I g.chr12:25289551C>T uc001rgp.1 - c.35G>A c.(34-36)GGT>GAT p.G12D KRAS_uc001rgq.1_Missense_Mutation_p.G12D|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00191A F KRAS 3845 broad.mit.edu 36 12 25289551 25289551 + Missense_Mutation SNP C T T SUIT2_PANCREAS Phase_I g.chr12:25289551C>T uc001rgp.1 - c.35G>A c.(34-36)GGT>GAT p.G12D KRAS_uc001rgq.1_Missense_Mutation_p.G12D|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00191A F KRAS 3845 broad.mit.edu 36 12 25289551 25289551 + Missense_Mutation SNP C T T HCC1588_LUNG Phase_I g.chr12:25289551C>T uc001rgp.1 - c.35G>A c.(34-36)GGT>GAT p.G12D KRAS_uc001rgq.1_Missense_Mutation_p.G12D|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00191A F KRAS 3845 broad.mit.edu 36 12 25289551 25289551 + Missense_Mutation SNP C T T HEC50B_ENDOMETRIUM Phase_I g.chr12:25289551C>T uc001rgp.1 - c.35G>A c.(34-36)GGT>GAT p.G12D KRAS_uc001rgq.1_Missense_Mutation_p.G12D|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00191A F KRAS 3845 broad.mit.edu 36 12 25289551 25289551 + Missense_Mutation SNP C T T SW1990_PANCREAS Phase_I g.chr12:25289551C>T uc001rgp.1 - c.35G>A c.(34-36)GGT>GAT p.G12D KRAS_uc001rgq.1_Missense_Mutation_p.G12D|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00191A F KRAS 3845 broad.mit.edu 36 12 25289551 25289551 + Missense_Mutation SNP C T T PL45_PANCREAS Phase_I g.chr12:25289551C>T uc001rgp.1 - c.35G>A c.(34-36)GGT>GAT p.G12D KRAS_uc001rgq.1_Missense_Mutation_p.G12D|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00191A F KRAS 3845 broad.mit.edu 36 12 25289551 25289551 + Missense_Mutation SNP C T T HEC1A_ENDOMETRIUM Phase_I g.chr12:25289551C>T uc001rgp.1 - c.35G>A c.(34-36)GGT>GAT p.G12D KRAS_uc001rgq.1_Missense_Mutation_p.G12D|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00191A F KRAS 3845 broad.mit.edu 36 12 25289551 25289551 + Missense_Mutation SNP C T T SNUC2A_LARGE_INTESTINE Phase_I g.chr12:25289551C>T uc001rgp.1 - c.35G>A c.(34-36)GGT>GAT p.G12D KRAS_uc001rgq.1_Missense_Mutation_p.G12D|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00191A F KRAS 3845 broad.mit.edu 36 12 25289551 25289551 + Missense_Mutation SNP C T T GP2D_LARGE_INTESTINE Phase_I g.chr12:25289551C>T uc001rgp.1 - c.35G>A c.(34-36)GGT>GAT p.G12D KRAS_uc001rgq.1_Missense_Mutation_p.G12D|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00191A F KRAS 3845 broad.mit.edu 36 12 25289551 25289551 + Missense_Mutation SNP C T T PANC0403_PANCREAS Phase_I g.chr12:25289551C>T uc001rgp.1 - c.35G>A c.(34-36)GGT>GAT p.G12D KRAS_uc001rgq.1_Missense_Mutation_p.G12D|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00191A F KRAS 3845 broad.mit.edu 36 12 25289551 25289551 + Missense_Mutation SNP C T T SNU869_BILIARY_TRACT Phase_I g.chr12:25289551C>T uc001rgp.1 - c.35G>A c.(34-36)GGT>GAT p.G12D KRAS_uc001rgq.1_Missense_Mutation_p.G12D|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00191A F KRAS 3845 broad.mit.edu 36 12 25289551 25289551 + Missense_Mutation SNP C T T SKLU1_LUNG Phase_I g.chr12:25289551C>T uc001rgp.1 - c.35G>A c.(34-36)GGT>GAT p.G12D KRAS_uc001rgq.1_Missense_Mutation_p.G12D|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00191A F KRAS 3845 broad.mit.edu 36 12 25289551 25289551 + Missense_Mutation SNP C T T SNU601_STOMACH Phase_I g.chr12:25289551C>T uc001rgp.1 - c.35G>A c.(34-36)GGT>GAT p.G12D KRAS_uc001rgq.1_Missense_Mutation_p.G12D|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00191A F KRAS 3845 broad.mit.edu 36 12 25289551 25289551 + Missense_Mutation SNP C T T ASPC1_PANCREAS Phase_I g.chr12:25289551C>T uc001rgp.1 - c.35G>A c.(34-36)GGT>GAT p.G12D KRAS_uc001rgq.1_Missense_Mutation_p.G12D|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00191A F KRAS 3845 broad.mit.edu 36 12 25289551 25289551 + Missense_Mutation SNP C T T HPAFII_PANCREAS Phase_I g.chr12:25289551C>T uc001rgp.1 - c.35G>A c.(34-36)GGT>GAT p.G12D KRAS_uc001rgq.1_Missense_Mutation_p.G12D|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00191A F KRAS 3845 broad.mit.edu 36 12 25289551 25289551 + Missense_Mutation SNP C T T HPAC_PANCREAS Phase_I g.chr12:25289551C>T uc001rgp.1 - c.35G>A c.(34-36)GGT>GAT p.G12D KRAS_uc001rgq.1_Missense_Mutation_p.G12D|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00191A F KRAS 3845 broad.mit.edu 36 12 25289551 25289551 + Missense_Mutation SNP C T T KP4_PANCREAS Phase_I g.chr12:25289551C>T uc001rgp.1 - c.35G>A c.(34-36)GGT>GAT p.G12D KRAS_uc001rgq.1_Missense_Mutation_p.G12D|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00191A F KRAS 3845 broad.mit.edu 36 12 25289551 25289551 + Missense_Mutation SNP C T T LS180_LARGE_INTESTINE Phase_I g.chr12:25289551C>T uc001rgp.1 - c.35G>A c.(34-36)GGT>GAT p.G12D KRAS_uc001rgq.1_Missense_Mutation_p.G12D|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00191A F KRAS 3845 broad.mit.edu 36 12 25289551 25289551 + Missense_Mutation SNP C T T PK59_PANCREAS Phase_I g.chr12:25289551C>T uc001rgp.1 - c.35G>A c.(34-36)GGT>GAT p.G12D KRAS_uc001rgq.1_Missense_Mutation_p.G12D|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00191A F KRAS 3845 broad.mit.edu 36 12 25289551 25289551 + Missense_Mutation SNP C T T KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE Phase_I g.chr12:25289551C>T uc001rgp.1 - c.35G>A c.(34-36)GGT>GAT p.G12D KRAS_uc001rgq.1_Missense_Mutation_p.G12D|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00191A F KRAS 3845 broad.mit.edu 36 12 25289551 25289551 + Missense_Mutation SNP C T T HEC1B_ENDOMETRIUM Phase_I g.chr12:25289551C>T uc001rgp.1 - c.35G>A c.(34-36)GGT>GAT p.G12D KRAS_uc001rgq.1_Missense_Mutation_p.G12D|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00191A F KRAS 3845 broad.mit.edu 36 12 25289551 25289551 + Missense_Mutation SNP C T T L33_PANCREAS Phase_I g.chr12:25289551C>T uc001rgp.1 - c.35G>A c.(34-36)GGT>GAT p.G12D KRAS_uc001rgq.1_Missense_Mutation_p.G12D|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00191A F KRAS 3845 broad.mit.edu 36 12 25289551 25289551 + Missense_Mutation SNP C T T PANC0504_PANCREAS Phase_I g.chr12:25289551C>T uc001rgp.1 - c.35G>A c.(34-36)GGT>GAT p.G12D KRAS_uc001rgq.1_Missense_Mutation_p.G12D|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00191A F KRAS 3845 broad.mit.edu 36 12 25289551 25289551 + Missense_Mutation SNP C T T OV7_OVARY Phase_I g.chr12:25289551C>T uc001rgp.1 - c.35G>A c.(34-36)GGT>GAT p.G12D KRAS_uc001rgq.1_Missense_Mutation_p.G12D|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00191A F KRAS 3845 broad.mit.edu 36 12 25289551 25289551 + Missense_Mutation SNP C T T SNU61_LARGE_INTESTINE Phase_I g.chr12:25289551C>T uc001rgp.1 - c.35G>A c.(34-36)GGT>GAT p.G12D KRAS_uc001rgq.1_Missense_Mutation_p.G12D|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00191A F KRAS 3845 broad.mit.edu 36 12 25289551 25289551 + Missense_Mutation SNP C T T KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE Phase_I g.chr12:25289551C>T uc001rgp.1 - c.35G>A c.(34-36)GGT>GAT p.G12D KRAS_uc001rgq.1_Missense_Mutation_p.G12D|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00191A F KRAS 3845 broad.mit.edu 36 12 25289551 25289551 + Missense_Mutation SNP C T T SNU8_OVARY Phase_I g.chr12:25289551C>T uc001rgp.1 - c.35G>A c.(34-36)GGT>GAT p.G12D KRAS_uc001rgq.1_Missense_Mutation_p.G12D|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00191A F KRAS 3845 broad.mit.edu 36 12 25289551 25289551 + Missense_Mutation SNP C T T KLM1_PANCREAS Phase_I g.chr12:25289551C>T uc001rgp.1 - c.35G>A c.(34-36)GGT>GAT p.G12D KRAS_uc001rgq.1_Missense_Mutation_p.G12D|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00191A F KRAS 3845 broad.mit.edu 36 12 25289551 25289551 + Missense_Mutation SNP C T T HEYA8_OVARY Phase_I g.chr12:25289551C>T uc001rgp.1 - c.35G>A c.(34-36)GGT>GAT p.G12D KRAS_uc001rgq.1_Missense_Mutation_p.G12D|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00191A F KRAS 3845 broad.mit.edu 36 12 25289551 25289551 + Missense_Mutation SNP C T T SNU1197_LARGE_INTESTINE Phase_I g.chr12:25289551C>T uc001rgp.1 - c.35G>A c.(34-36)GGT>GAT p.G12D KRAS_uc001rgq.1_Missense_Mutation_p.G12D|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00191A F KRAS 3845 broad.mit.edu 36 12 25289551 25289551 + Missense_Mutation SNP C T T CL40_LARGE_INTESTINE Phase_I g.chr12:25289551C>T uc001rgp.1 - c.35G>A c.(34-36)GGT>GAT p.G12D KRAS_uc001rgq.1_Missense_Mutation_p.G12D|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00191A F KRAS 3845 broad.mit.edu 36 12 25289551 25289551 + Missense_Mutation SNP C T T AGS_STOMACH Phase_I g.chr12:25289551C>T uc001rgp.1 - c.35G>A c.(34-36)GGT>GAT p.G12D KRAS_uc001rgq.1_Missense_Mutation_p.G12D|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00191A F KRAS 3845 broad.mit.edu 36 12 25289551 25289551 + Missense_Mutation SNP C T T MCAS_OVARY Phase_I g.chr12:25289551C>T uc001rgp.1 - c.35G>A c.(34-36)GGT>GAT p.G12D KRAS_uc001rgq.1_Missense_Mutation_p.G12D|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00191A F KRAS 3845 broad.mit.edu 36 12 25289551 25289551 + Missense_Mutation SNP C T T COLO678_LARGE_INTESTINE Phase_I g.chr12:25289551C>T uc001rgp.1 - c.35G>A c.(34-36)GGT>GAT p.G12D KRAS_uc001rgq.1_Missense_Mutation_p.G12D|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00191A F KRAS 3845 broad.mit.edu 36 12 25289551 25289551 + Missense_Mutation SNP C T T TGBC11TKB_STOMACH Phase_I g.chr12:25289551C>T uc001rgp.1 - c.35G>A c.(34-36)GGT>GAT p.G12D KRAS_uc001rgq.1_Missense_Mutation_p.G12D|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00191A F KRAS 3845 broad.mit.edu 36 12 25289551 25289551 + Missense_Mutation SNP C T T PANC1005_PANCREAS Phase_I g.chr12:25289551C>T uc001rgp.1 - c.35G>A c.(34-36)GGT>GAT p.G12D KRAS_uc001rgq.1_Missense_Mutation_p.G12D|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00191A F KRAS 3845 broad.mit.edu 36 12 25289551 25289551 + Missense_Mutation SNP C T T 639V_URINARY_TRACT Phase_I g.chr12:25289551C>T uc001rgp.1 - c.35G>A c.(34-36)GGT>GAT p.G12D KRAS_uc001rgq.1_Missense_Mutation_p.G12D|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00191A F KRAS 3845 broad.mit.edu 36 12 25289551 25289551 + Missense_Mutation SNP C T T SNU407_LARGE_INTESTINE Phase_I g.chr12:25289551C>T uc001rgp.1 - c.35G>A c.(34-36)GGT>GAT p.G12D KRAS_uc001rgq.1_Missense_Mutation_p.G12D|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00191A F KRAS 3845 broad.mit.edu 36 12 25289551 25289551 + Missense_Mutation SNP C T T SNU410_PANCREAS Phase_I g.chr12:25289551C>T uc001rgp.1 - c.35G>A c.(34-36)GGT>GAT p.G12D KRAS_uc001rgq.1_Missense_Mutation_p.G12D|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00191A F KRAS 3845 broad.mit.edu 36 12 25289551 25289551 + Missense_Mutation SNP C T T T3M10_LUNG Phase_I g.chr12:25289551C>T uc001rgp.1 - c.35G>A c.(34-36)GGT>GAT p.G12D KRAS_uc001rgq.1_Missense_Mutation_p.G12D|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00191A F KRAS 3845 broad.mit.edu 36 12 25289551 25289551 + Missense_Mutation SNP C T T HPAC_PANCREAS Phase_I g.chr12:25289551C>T uc001rgp.1 - c.35G>A c.(34-36)GGT>GAT p.G12D KRAS_uc001rgq.1_Missense_Mutation_p.G12D|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00191B R KRAS 3845 broad.mit.edu 36 12 25289551 25289551 + Missense_Mutation SNP C T T AGS_STOMACH Phase_I g.chr12:25289551C>T uc001rgp.1 - c.35G>A c.(34-36)GGT>GAT p.G12D KRAS_uc001rgq.1_Missense_Mutation_p.G12D|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00191B R KRAS 3845 broad.mit.edu 36 12 25289551 25289551 + Missense_Mutation SNP C T T HEYA8_OVARY Phase_I g.chr12:25289551C>T uc001rgp.1 - c.35G>A c.(34-36)GGT>GAT p.G12D KRAS_uc001rgq.1_Missense_Mutation_p.G12D|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00191B R KRAS 3845 broad.mit.edu 36 12 25289551 25289551 + Missense_Mutation SNP C T T MCAS_OVARY Phase_I g.chr12:25289551C>T uc001rgp.1 - c.35G>A c.(34-36)GGT>GAT p.G12D KRAS_uc001rgq.1_Missense_Mutation_p.G12D|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00191B R KRAS 3845 broad.mit.edu 36 12 25289551 25289551 + Missense_Mutation SNP C T T SUIT2_PANCREAS Phase_I g.chr12:25289551C>T uc001rgp.1 - c.35G>A c.(34-36)GGT>GAT p.G12D KRAS_uc001rgq.1_Missense_Mutation_p.G12D|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00191B R KRAS 3845 broad.mit.edu 36 12 25289551 25289551 + Missense_Mutation SNP C T T LS180_LARGE_INTESTINE Phase_I g.chr12:25289551C>T uc001rgp.1 - c.35G>A c.(34-36)GGT>GAT p.G12D KRAS_uc001rgq.1_Missense_Mutation_p.G12D|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00191B R KRAS 3845 broad.mit.edu 36 12 25289551 25289551 + Missense_Mutation SNP C T T HPAFII_PANCREAS Phase_I g.chr12:25289551C>T uc001rgp.1 - c.35G>A c.(34-36)GGT>GAT p.G12D KRAS_uc001rgq.1_Missense_Mutation_p.G12D|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00191B R KRAS 3845 broad.mit.edu 36 12 25289551 25289551 + Missense_Mutation SNP C T T PK59_PANCREAS Phase_I g.chr12:25289551C>T uc001rgp.1 - c.35G>A c.(34-36)GGT>GAT p.G12D KRAS_uc001rgq.1_Missense_Mutation_p.G12D|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00191B R KRAS 3845 broad.mit.edu 36 12 25289551 25289551 + Missense_Mutation SNP C T T PK1_PANCREAS Phase_I g.chr12:25289551C>T uc001rgp.1 - c.35G>A c.(34-36)GGT>GAT p.G12D KRAS_uc001rgq.1_Missense_Mutation_p.G12D|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00191B R KRAS 3845 broad.mit.edu 36 12 25289551 25289551 + Missense_Mutation SNP C T T PANC0203_PANCREAS Phase_I g.chr12:25289551C>T uc001rgp.1 - c.35G>A c.(34-36)GGT>GAT p.G12D KRAS_uc001rgq.1_Missense_Mutation_p.G12D|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00191B R KRAS 3845 broad.mit.edu 36 12 25289551 25289551 + Missense_Mutation SNP C T T PANC0403_PANCREAS Phase_I g.chr12:25289551C>T uc001rgp.1 - c.35G>A c.(34-36)GGT>GAT p.G12D KRAS_uc001rgq.1_Missense_Mutation_p.G12D|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00191B R KRAS 3845 broad.mit.edu 36 12 25289551 25289551 + Missense_Mutation SNP C T T HEC1A_ENDOMETRIUM Phase_I g.chr12:25289551C>T uc001rgp.1 - c.35G>A c.(34-36)GGT>GAT p.G12D KRAS_uc001rgq.1_Missense_Mutation_p.G12D|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00191B R KRAS 3845 broad.mit.edu 36 12 25289551 25289551 + Missense_Mutation SNP C T T PANC1005_PANCREAS Phase_I g.chr12:25289551C>T uc001rgp.1 - c.35G>A c.(34-36)GGT>GAT p.G12D KRAS_uc001rgq.1_Missense_Mutation_p.G12D|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00191B R KRAS 3845 broad.mit.edu 36 12 25289551 25289551 + Missense_Mutation SNP C T T T3M10_LUNG Phase_I g.chr12:25289551C>T uc001rgp.1 - c.35G>A c.(34-36)GGT>GAT p.G12D KRAS_uc001rgq.1_Missense_Mutation_p.G12D|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00191B R KRAS 3845 broad.mit.edu 36 12 25289552 25289552 + Missense_Mutation SNP C A A SW1573_LUNG Phase_I g.chr12:25289552C>A uc001rgp.1 - c.34G>T c.(34-36)GGT>TGT p.G12C KRAS_uc001rgq.1_Missense_Mutation_p.G12C|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00192A F KRAS 3845 broad.mit.edu 36 12 25289552 25289552 + Missense_Mutation SNP C A A NCIH23_LUNG Phase_I g.chr12:25289552C>A uc001rgp.1 - c.34G>T c.(34-36)GGT>TGT p.G12C KRAS_uc001rgq.1_Missense_Mutation_p.G12C|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00192A F KRAS 3845 broad.mit.edu 36 12 25289552 25289552 + Missense_Mutation SNP C A A MIAPACA2_PANCREAS Phase_I g.chr12:25289552C>A uc001rgp.1 - c.34G>T c.(34-36)GGT>TGT p.G12C KRAS_uc001rgq.1_Missense_Mutation_p.G12C|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00192A F KRAS 3845 broad.mit.edu 36 12 25289552 25289552 + Missense_Mutation SNP C A A NCIH1792_LUNG Phase_I g.chr12:25289552C>A uc001rgp.1 - c.34G>T c.(34-36)GGT>TGT p.G12C KRAS_uc001rgq.1_Missense_Mutation_p.G12C|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00192A F KRAS 3845 broad.mit.edu 36 12 25289552 25289552 + Missense_Mutation SNP C A A IALM_LUNG Phase_I g.chr12:25289552C>A uc001rgp.1 - c.34G>T c.(34-36)GGT>TGT p.G12C KRAS_uc001rgq.1_Missense_Mutation_p.G12C|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00192A F KRAS 3845 broad.mit.edu 36 12 25289552 25289552 + Missense_Mutation SNP C A A CALU1_LUNG Phase_I g.chr12:25289552C>A uc001rgp.1 - c.34G>T c.(34-36)GGT>TGT p.G12C KRAS_uc001rgq.1_Missense_Mutation_p.G12C|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00192A F KRAS 3845 broad.mit.edu 36 12 25289552 25289552 + Missense_Mutation SNP C A A KYSE410_OESOPHAGUS Phase_I g.chr12:25289552C>A uc001rgp.1 - c.34G>T c.(34-36)GGT>TGT p.G12C KRAS_uc001rgq.1_Missense_Mutation_p.G12C|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00192A F KRAS 3845 broad.mit.edu 36 12 25289552 25289552 + Missense_Mutation SNP C A A OV56_OVARY Phase_I g.chr12:25289552C>A uc001rgp.1 - c.34G>T c.(34-36)GGT>TGT p.G12C KRAS_uc001rgq.1_Missense_Mutation_p.G12C|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00192A F KRAS 3845 broad.mit.edu 36 12 25289552 25289552 + Missense_Mutation SNP C A A NCIH358_LUNG Phase_I g.chr12:25289552C>A uc001rgp.1 - c.34G>T c.(34-36)GGT>TGT p.G12C KRAS_uc001rgq.1_Missense_Mutation_p.G12C|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00192A F KRAS 3845 broad.mit.edu 36 12 25289552 25289552 + Missense_Mutation SNP C A A SW837_LARGE_INTESTINE Phase_I g.chr12:25289552C>A uc001rgp.1 - c.34G>T c.(34-36)GGT>TGT p.G12C KRAS_uc001rgq.1_Missense_Mutation_p.G12C|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00192A F KRAS 3845 broad.mit.edu 36 12 25289552 25289552 + Missense_Mutation SNP C A A NCIH2030_LUNG Phase_I g.chr12:25289552C>A uc001rgp.1 - c.34G>T c.(34-36)GGT>TGT p.G12C KRAS_uc001rgq.1_Missense_Mutation_p.G12C|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00192A F KRAS 3845 broad.mit.edu 36 12 25289552 25289552 + Missense_Mutation SNP C A A SW1463_LARGE_INTESTINE Phase_I g.chr12:25289552C>A uc001rgp.1 - c.34G>T c.(34-36)GGT>TGT p.G12C KRAS_uc001rgq.1_Missense_Mutation_p.G12C|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00192A F KRAS 3845 broad.mit.edu 36 12 25289552 25289552 + Missense_Mutation SNP C A A NCIH2122_LUNG Phase_I g.chr12:25289552C>A uc001rgp.1 - c.34G>T c.(34-36)GGT>TGT p.G12C KRAS_uc001rgq.1_Missense_Mutation_p.G12C|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00192A F KRAS 3845 broad.mit.edu 36 12 25289552 25289552 + Missense_Mutation SNP C A A NCIH1385_LUNG Phase_I g.chr12:25289552C>A uc001rgp.1 - c.34G>T c.(34-36)GGT>TGT p.G12C KRAS_uc001rgq.1_Missense_Mutation_p.G12C|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00192A F KRAS 3845 broad.mit.edu 36 12 25289552 25289552 + Missense_Mutation SNP C A A KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE Phase_I g.chr12:25289552C>A uc001rgp.1 - c.34G>T c.(34-36)GGT>TGT p.G12C KRAS_uc001rgq.1_Missense_Mutation_p.G12C|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00192A F KRAS 3845 broad.mit.edu 36 12 25289552 25289552 + Missense_Mutation SNP C A A UMUC3_URINARY_TRACT Phase_I g.chr12:25289552C>A uc001rgp.1 - c.34G>T c.(34-36)GGT>TGT p.G12C KRAS_uc001rgq.1_Missense_Mutation_p.G12C|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00192A F KRAS 3845 broad.mit.edu 36 12 25289552 25289552 + Missense_Mutation SNP C A A LU65_LUNG Phase_I g.chr12:25289552C>A uc001rgp.1 - c.34G>T c.(34-36)GGT>TGT p.G12C KRAS_uc001rgq.1_Missense_Mutation_p.G12C|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00192A F KRAS 3845 broad.mit.edu 36 12 25289552 25289552 + Missense_Mutation SNP C A A HCC44_LUNG Phase_I g.chr12:25289552C>A uc001rgp.1 - c.34G>T c.(34-36)GGT>TGT p.G12C KRAS_uc001rgq.1_Missense_Mutation_p.G12C|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00192A F KRAS 3845 broad.mit.edu 36 12 25289552 25289552 + Missense_Mutation SNP C A A LU99_LUNG Phase_I g.chr12:25289552C>A uc001rgp.1 - c.34G>T c.(34-36)GGT>TGT p.G12C KRAS_uc001rgq.1_Missense_Mutation_p.G12C|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00192A F KRAS 3845 broad.mit.edu 36 12 25289552 25289552 + Missense_Mutation SNP C A A NCIH1373_LUNG Phase_I g.chr12:25289552C>A uc001rgp.1 - c.34G>T c.(34-36)GGT>TGT p.G12C KRAS_uc001rgq.1_Missense_Mutation_p.G12C|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00192A F KRAS 3845 broad.mit.edu 36 12 25289552 25289552 + Missense_Mutation SNP C A A HCC1171_LUNG Phase_I g.chr12:25289552C>A uc001rgp.1 - c.34G>T c.(34-36)GGT>TGT p.G12C KRAS_uc001rgq.1_Missense_Mutation_p.G12C|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00192B R KRAS 3845 broad.mit.edu 36 12 25289552 25289552 + Missense_Mutation SNP C A A CALU1_LUNG Phase_I g.chr12:25289552C>A uc001rgp.1 - c.34G>T c.(34-36)GGT>TGT p.G12C KRAS_uc001rgq.1_Missense_Mutation_p.G12C|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00192B R KRAS 3845 broad.mit.edu 36 12 25289552 25289552 + Missense_Mutation SNP C A A NCIH2030_LUNG Phase_I g.chr12:25289552C>A uc001rgp.1 - c.34G>T c.(34-36)GGT>TGT p.G12C KRAS_uc001rgq.1_Missense_Mutation_p.G12C|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00192B R KRAS 3845 broad.mit.edu 36 12 25289552 25289552 + Missense_Mutation SNP C G G CAL62_THYROID Phase_I g.chr12:25289552C>G uc001rgp.1 - c.34G>C c.(34-36)GGT>CGT p.G12R KRAS_uc001rgq.1_Missense_Mutation_p.G12R|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00193A F KRAS 3845 broad.mit.edu 36 12 25289552 25289552 + Missense_Mutation SNP C G G TCCPAN2_PANCREAS Phase_I g.chr12:25289552C>G uc001rgp.1 - c.34G>C c.(34-36)GGT>CGT p.G12R KRAS_uc001rgq.1_Missense_Mutation_p.G12R|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00193A F KRAS 3845 broad.mit.edu 36 12 25289552 25289552 + Missense_Mutation SNP C G G PSN1_PANCREAS Phase_I g.chr12:25289552C>G uc001rgp.1 - c.34G>C c.(34-36)GGT>CGT p.G12R KRAS_uc001rgq.1_Missense_Mutation_p.G12R|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00193A F KRAS 3845 broad.mit.edu 36 12 25289552 25289552 + Missense_Mutation SNP C G G HUPT3_PANCREAS Phase_I g.chr12:25289552C>G uc001rgp.1 - c.34G>C c.(34-36)GGT>CGT p.G12R KRAS_uc001rgq.1_Missense_Mutation_p.G12R|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00193A F KRAS 3845 broad.mit.edu 36 12 25289552 25289552 + Missense_Mutation SNP C G G HS274T_BREAST Phase_I g.chr12:25289552C>G uc001rgp.1 - c.34G>C c.(34-36)GGT>CGT p.G12R KRAS_uc001rgq.1_Missense_Mutation_p.G12R|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00193A F KRAS 3845 broad.mit.edu 36 12 25289552 25289552 + Missense_Mutation SNP C G G KP2_PANCREAS Phase_I g.chr12:25289552C>G uc001rgp.1 - c.34G>C c.(34-36)GGT>CGT p.G12R KRAS_uc001rgq.1_Missense_Mutation_p.G12R|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00193A F KRAS 3845 broad.mit.edu 36 12 25289552 25289552 + Missense_Mutation SNP C G G NCIH1339_LUNG Phase_I g.chr12:25289552C>G uc001rgp.1 - c.34G>C c.(34-36)GGT>CGT p.G12R KRAS_uc001rgq.1_Missense_Mutation_p.G12R|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. OM_00193B R KRAS 3845 broad.mit.edu 36 12 25289549 25289549 + Missense_Mutation SNP C A A NCIH1355_LUNG Phase_I g.chr12:25289549C>A uc001rgp.1 - c.37G>T c.(37-39)GGC>TGC p.G13C KRAS_uc001rgq.1_Missense_Mutation_p.G13C|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 13 GTP. OM_00195A F KRAS 3845 broad.mit.edu 36 12 25289549 25289549 + Missense_Mutation SNP C A A NCIH1734_LUNG Phase_I g.chr12:25289549C>A uc001rgp.1 - c.37G>T c.(37-39)GGC>TGC p.G13C KRAS_uc001rgq.1_Missense_Mutation_p.G13C|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 13 GTP. OM_00195A F KRAS 3845 broad.mit.edu 36 12 25289549 25289549 + Missense_Mutation SNP C A A TOV21G_OVARY Phase_I g.chr12:25289549C>A uc001rgp.1 - c.37G>T c.(37-39)GGC>TGC p.G13C KRAS_uc001rgq.1_Missense_Mutation_p.G13C|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 13 GTP. OM_00195A F KRAS 3845 broad.mit.edu 36 12 25289549 25289549 + Missense_Mutation SNP C A A MORCPR_LUNG Phase_I g.chr12:25289549C>A uc001rgp.1 - c.37G>T c.(37-39)GGC>TGC p.G13C KRAS_uc001rgq.1_Missense_Mutation_p.G13C|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 13 GTP. OM_00195B R KRAS 3845 broad.mit.edu 36 12 25289549 25289549 + Missense_Mutation SNP C A A TOV21G_OVARY Phase_I g.chr12:25289549C>A uc001rgp.1 - c.37G>T c.(37-39)GGC>TGC p.G13C KRAS_uc001rgq.1_Missense_Mutation_p.G13C|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 13 GTP. OM_00195B R KRAS 3845 broad.mit.edu 36 12 25289548 25289548 + Missense_Mutation SNP C T T T84_LARGE_INTESTINE Phase_I g.chr12:25289548C>T uc001rgp.1 - c.38G>A c.(37-39)GGC>GAC p.G13D KRAS_uc001rgq.1_Missense_Mutation_p.G13D|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 13 GTP. OM_00196A F KRAS 3845 broad.mit.edu 36 12 25289548 25289548 + Missense_Mutation SNP C T T HCT8_LARGE_INTESTINE Phase_I g.chr12:25289548C>T uc001rgp.1 - c.38G>A c.(37-39)GGC>GAC p.G13D KRAS_uc001rgq.1_Missense_Mutation_p.G13D|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 13 GTP. OM_00196A F KRAS 3845 broad.mit.edu 36 12 25289548 25289548 + Missense_Mutation SNP C T T TOLEDO_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE Phase_I g.chr12:25289548C>T uc001rgp.1 - c.38G>A c.(37-39)GGC>GAC p.G13D KRAS_uc001rgq.1_Missense_Mutation_p.G13D|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 13 GTP. OM_00196A F KRAS 3845 broad.mit.edu 36 12 25289548 25289548 + Missense_Mutation SNP C T T HCT15_LARGE_INTESTINE Phase_I g.chr12:25289548C>T uc001rgp.1 - c.38G>A c.(37-39)GGC>GAC p.G13D KRAS_uc001rgq.1_Missense_Mutation_p.G13D|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 13 GTP. OM_00196A F KRAS 3845 broad.mit.edu 36 12 25289548 25289548 + Missense_Mutation SNP C T T DV90_LUNG Phase_I g.chr12:25289548C>T uc001rgp.1 - c.38G>A c.(37-39)GGC>GAC p.G13D KRAS_uc001rgq.1_Missense_Mutation_p.G13D|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 13 GTP. OM_00196A F KRAS 3845 broad.mit.edu 36 12 25289548 25289548 + Missense_Mutation SNP C T T NCIH647_LUNG Phase_I g.chr12:25289548C>T uc001rgp.1 - c.38G>A c.(37-39)GGC>GAC p.G13D KRAS_uc001rgq.1_Missense_Mutation_p.G13D|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 13 GTP. OM_00196A F KRAS 3845 broad.mit.edu 36 12 25289548 25289548 + Missense_Mutation SNP C T T NCIH747_LARGE_INTESTINE Phase_I g.chr12:25289548C>T uc001rgp.1 - c.38G>A c.(37-39)GGC>GAC p.G13D KRAS_uc001rgq.1_Missense_Mutation_p.G13D|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 13 GTP. OM_00196A F KRAS 3845 broad.mit.edu 36 12 25289548 25289548 + Missense_Mutation SNP C T T DLD1_LARGE_INTESTINE Phase_I g.chr12:25289548C>T uc001rgp.1 - c.38G>A c.(37-39)GGC>GAC p.G13D KRAS_uc001rgq.1_Missense_Mutation_p.G13D|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 13 GTP. OM_00196A F KRAS 3845 broad.mit.edu 36 12 25289548 25289548 + Missense_Mutation SNP C T T NOMO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE Phase_I g.chr12:25289548C>T uc001rgp.1 - c.38G>A c.(37-39)GGC>GAC p.G13D KRAS_uc001rgq.1_Missense_Mutation_p.G13D|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 13 GTP. OM_00196A F KRAS 3845 broad.mit.edu 36 12 25289548 25289548 + Missense_Mutation SNP C T T HCT116_LARGE_INTESTINE Phase_I g.chr12:25289548C>T uc001rgp.1 - c.38G>A c.(37-39)GGC>GAC p.G13D KRAS_uc001rgq.1_Missense_Mutation_p.G13D|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 13 GTP. OM_00196A F KRAS 3845 broad.mit.edu 36 12 25289548 25289548 + Missense_Mutation SNP C T T LOVO_LARGE_INTESTINE Phase_I g.chr12:25289548C>T uc001rgp.1 - c.38G>A c.(37-39)GGC>GAC p.G13D KRAS_uc001rgq.1_Missense_Mutation_p.G13D|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 13 GTP. OM_00196A F KRAS 3845 broad.mit.edu 36 12 25289548 25289548 + Missense_Mutation SNP C T T MDAMB231_BREAST Phase_I g.chr12:25289548C>T uc001rgp.1 - c.38G>A c.(37-39)GGC>GAC p.G13D KRAS_uc001rgq.1_Missense_Mutation_p.G13D|KRAS_uc001rgr.2_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 13 GTP. OM_00196A F KRAS 3845 broad.mit.edu 36 12 25271550 25271550 + Missense_Mutation SNP C T T SNU175_LARGE_INTESTINE Phase_I g.chr12:25271550C>T uc001rgp.1 - c.175G>A c.(175-177)GCA>ACA p.A59T KRAS_uc001rgq.1_Missense_Mutation_p.A59T NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 59 GTP. OM_00199A F KRAS 3845 broad.mit.edu 36 12 25271550 25271550 + Missense_Mutation SNP C T T 143B_BONE Phase_I g.chr12:25271550C>T uc001rgp.1 - c.175G>A c.(175-177)GCA>ACA p.A59T KRAS_uc001rgq.1_Missense_Mutation_p.A59T NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 59 GTP. OM_00199A F KRAS 3845 broad.mit.edu 36 12 25271542 25271542 + Missense_Mutation SNP T A A rs17851045 unknown NCIH460_LUNG Phase_I g.chr12:25271542T>A uc001rgp.1 - c.183A>T c.(181-183)CAA>CAT p.Q61H KRAS_uc001rgq.1_Missense_Mutation_p.Q61H NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 61 GTP. OM_00201A F KRAS 3845 broad.mit.edu 36 12 25271542 25271542 + Missense_Mutation SNP T A A rs17851045 unknown NCIH1155_LUNG Phase_I g.chr12:25271542T>A uc001rgp.1 - c.183A>T c.(181-183)CAA>CAT p.Q61H KRAS_uc001rgq.1_Missense_Mutation_p.Q61H NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 61 GTP. OM_00201A F KRAS 3845 broad.mit.edu 36 12 25271542 25271542 + Missense_Mutation SNP T G G rs17851045 unknown T3M4_PANCREAS Phase_I g.chr12:25271542T>G uc001rgp.1 - c.183A>C c.(181-183)CAA>CAC p.Q61H KRAS_uc001rgq.1_Missense_Mutation_p.Q61H NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 61 GTP. OM_00202A F KRAS 3845 broad.mit.edu 36 12 25271542 25271542 + Missense_Mutation SNP T G G rs17851045 unknown CL11_LARGE_INTESTINE Phase_I g.chr12:25271542T>G uc001rgp.1 - c.183A>C c.(181-183)CAA>CAC p.Q61H KRAS_uc001rgq.1_Missense_Mutation_p.Q61H NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 61 GTP. OM_00202A F KRAS 3845 broad.mit.edu 36 12 25271542 25271542 + Missense_Mutation SNP T G G rs17851045 unknown HS766T_PANCREAS Phase_I g.chr12:25271542T>G uc001rgp.1 - c.183A>C c.(181-183)CAA>CAC p.Q61H KRAS_uc001rgq.1_Missense_Mutation_p.Q61H NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 61 GTP. OM_00202A F KRAS 3845 broad.mit.edu 36 12 25271542 25271542 + Missense_Mutation SNP T G G rs17851045 unknown HCC2108_LUNG Phase_I g.chr12:25271542T>G uc001rgp.1 - c.183A>C c.(181-183)CAA>CAC p.Q61H KRAS_uc001rgq.1_Missense_Mutation_p.Q61H NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 61 GTP. OM_00202B R KRAS 3845 broad.mit.edu 36 12 25271542 25271542 + Missense_Mutation SNP T G G rs17851045 unknown HS766T_PANCREAS Phase_I g.chr12:25271542T>G uc001rgp.1 - c.183A>C c.(181-183)CAA>CAC p.Q61H KRAS_uc001rgq.1_Missense_Mutation_p.Q61H NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 61 GTP. OM_00202B R KRAS 3845 broad.mit.edu 36 12 25271544 25271544 + Missense_Mutation SNP G T T SNU668_STOMACH Phase_I g.chr12:25271544G>T uc001rgp.1 - c.181C>A c.(181-183)CAA>AAA p.Q61K KRAS_uc001rgq.1_Missense_Mutation_p.Q61K NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 61 GTP. OM_00203A F KRAS 3845 broad.mit.edu 36 12 25271544 25271544 + Missense_Mutation SNP G T T CALU6_LUNG Phase_I g.chr12:25271544G>T uc001rgp.1 - c.181C>A c.(181-183)CAA>AAA p.Q61K KRAS_uc001rgq.1_Missense_Mutation_p.Q61K NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 61 GTP. OM_00203A F KRAS 3845 broad.mit.edu 36 12 25271543 25271543 + Missense_Mutation SNP T A A SW948_LARGE_INTESTINE Phase_I g.chr12:25271543T>A uc001rgp.1 - c.182A>T c.(181-183)CAA>CTA p.Q61L KRAS_uc001rgq.1_Missense_Mutation_p.Q61L NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 61 GTP. OM_00204A F KRAS 3845 broad.mit.edu 36 12 25271543 25271543 + Missense_Mutation SNP T A A NCIH650_LUNG Phase_I g.chr12:25271543T>A uc001rgp.1 - c.182A>T c.(181-183)CAA>CTA p.Q61L KRAS_uc001rgq.1_Missense_Mutation_p.Q61L NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 61 GTP. OM_00204A F KRAS 3845 broad.mit.edu 36 12 25271543 25271543 + Missense_Mutation SNP T A A NCIH650_LUNG Phase_I g.chr12:25271543T>A uc001rgp.1 - c.182A>T c.(181-183)CAA>CTA p.Q61L KRAS_uc001rgq.1_Missense_Mutation_p.Q61L NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 61 GTP. OM_00204B R KRAS 3845 broad.mit.edu 36 12 25271543 25271543 + Missense_Mutation SNP T A A SW948_LARGE_INTESTINE Phase_I g.chr12:25271543T>A uc001rgp.1 - c.182A>T c.(181-183)CAA>CTA p.Q61L KRAS_uc001rgq.1_Missense_Mutation_p.Q61L NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 61 GTP. OM_00204B R KRAS 3845 broad.mit.edu 36 12 25271543 25271543 + Missense_Mutation SNP T C C PANC0213_PANCREAS Phase_I g.chr12:25271543T>C uc001rgp.1 - c.182A>G c.(181-183)CAA>CGA p.Q61R KRAS_uc001rgq.1_Missense_Mutation_p.Q61R NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 61 GTP. OM_00205A F KRAS 3845 broad.mit.edu 36 12 25271543 25271543 + Missense_Mutation SNP T C C PANC0213_PANCREAS Phase_I g.chr12:25271543T>C uc001rgp.1 - c.182A>G c.(181-183)CAA>CGA p.Q61R KRAS_uc001rgq.1_Missense_Mutation_p.Q61R NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 61 GTP. OM_00205B R NRAS 4893 broad.mit.edu 36 1 115060271 115060271 + Missense_Mutation SNP C A A KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE Phase_I g.chr1:115060271C>A uc009wgu.1 - c.34G>T c.(34-36)GGT>TGT p.G12C NM_002524 NP_002515 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene 12 GTP. OM_00213A F NRAS 4893 broad.mit.edu 36 1 115060271 115060271 + Missense_Mutation SNP C A A P31FUJ_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE Phase_I g.chr1:115060271C>A uc009wgu.1 - c.34G>T c.(34-36)GGT>TGT p.G12C NM_002524 NP_002515 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene 12 GTP. OM_00213A F NRAS 4893 broad.mit.edu 36 1 115060271 115060271 + Missense_Mutation SNP C A A MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE Phase_I g.chr1:115060271C>A uc009wgu.1 - c.34G>T c.(34-36)GGT>TGT p.G12C NM_002524 NP_002515 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene 12 GTP. OM_00213A F NRAS 4893 broad.mit.edu 36 1 115060270 115060270 + Missense_Mutation SNP C T T 697_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE Phase_I g.chr1:115060270C>T uc009wgu.1 - c.35G>A c.(34-36)GGT>GAT p.G12D NM_002524 NP_002515 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene 12 GTP. OM_00214A F NRAS 4893 broad.mit.edu 36 1 115060270 115060270 + Missense_Mutation SNP C T T TALL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE Phase_I g.chr1:115060270C>T uc009wgu.1 - c.35G>A c.(34-36)GGT>GAT p.G12D NM_002524 NP_002515 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene 12 GTP. OM_00214A F NRAS 4893 broad.mit.edu 36 1 115060270 115060270 + Missense_Mutation SNP C T T P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE Phase_I g.chr1:115060270C>T uc009wgu.1 - c.35G>A c.(34-36)GGT>GAT p.G12D NM_002524 NP_002515 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene 12 GTP. OM_00214A F NRAS 4893 broad.mit.edu 36 1 115060270 115060270 + Missense_Mutation SNP C T T THP1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE Phase_I g.chr1:115060270C>T uc009wgu.1 - c.35G>A c.(34-36)GGT>GAT p.G12D NM_002524 NP_002515 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene 12 GTP. OM_00214A F NRAS 4893 broad.mit.edu 36 1 115060270 115060270 + Missense_Mutation SNP C T T HEC151_ENDOMETRIUM Phase_I g.chr1:115060270C>T uc009wgu.1 - c.35G>A c.(34-36)GGT>GAT p.G12D NM_002524 NP_002515 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene 12 GTP. OM_00214A F NRAS 4893 broad.mit.edu 36 1 115060270 115060270 + Missense_Mutation SNP C T T TYKNU_OVARY Phase_I g.chr1:115060270C>T uc009wgu.1 - c.35G>A c.(34-36)GGT>GAT p.G12D NM_002524 NP_002515 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene 12 GTP. OM_00214A F NRAS 4893 broad.mit.edu 36 1 115060270 115060270 + Missense_Mutation SNP C T T MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE Phase_I g.chr1:115060270C>T uc009wgu.1 - c.35G>A c.(34-36)GGT>GAT p.G12D NM_002524 NP_002515 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene 12 GTP. OM_00214B R NRAS 4893 broad.mit.edu 36 1 115060270 115060270 + Missense_Mutation SNP C T T KE37_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE Phase_I g.chr1:115060270C>T uc009wgu.1 - c.35G>A c.(34-36)GGT>GAT p.G12D NM_002524 NP_002515 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene 12 GTP. OM_00214B R NRAS 4893 broad.mit.edu 36 1 115060271 115060271 + Missense_Mutation SNP C T T PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE Phase_I g.chr1:115060271C>T uc009wgu.1 - c.34G>A c.(34-36)GGT>AGT p.G12S NM_002524 NP_002515 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene 12 GTP. OM_00215A F NRAS 4893 broad.mit.edu 36 1 115060270 115060270 + Missense_Mutation SNP C A A HS852T_SKIN Phase_I g.chr1:115060270C>A uc009wgu.1 - c.35G>T c.(34-36)GGT>GTT p.G12V NM_002524 NP_002515 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene 12 GTP. OM_00216 F NRAS 4893 broad.mit.edu 36 1 115060267 115060267 + Missense_Mutation SNP C A A AML193_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE Phase_I g.chr1:115060267C>A uc009wgu.1 - c.38G>T c.(37-39)GGT>GTT p.G13V NM_002524 NP_002515 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene 13 GTP. OM_00218A F NRAS 4893 broad.mit.edu 36 1 115060268 115060268 + Missense_Mutation SNP C G G KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE Phase_I g.chr1:115060268C>G uc009wgu.1 - c.37G>C c.(37-39)GGT>CGT p.G13R NM_002524 NP_002515 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene 13 GTP. OM_00219A F NRAS 4893 broad.mit.edu 36 1 115060267 115060267 + Missense_Mutation SNP C T T NCIH929_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE Phase_I g.chr1:115060267C>T uc009wgu.1 - c.38G>A c.(37-39)GGT>GAT p.G13D NM_002524 NP_002515 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene 13 GTP. OM_00220A F NRAS 4893 broad.mit.edu 36 1 115060267 115060267 + Missense_Mutation SNP C T T KMM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE Phase_I g.chr1:115060267C>T uc009wgu.1 - c.38G>A c.(37-39)GGT>GAT p.G13D NM_002524 NP_002515 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene 13 GTP. OM_00220A F NRAS 4893 broad.mit.edu 36 1 115060267 115060267 + Missense_Mutation SNP C T T HDMYZ_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE Phase_I g.chr1:115060267C>T uc009wgu.1 - c.38G>A c.(37-39)GGT>GAT p.G13D NM_002524 NP_002515 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene 13 GTP. OM_00220A F NRAS 4893 broad.mit.edu 36 1 115060267 115060267 + Missense_Mutation SNP C T T MINO_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE Phase_I g.chr1:115060267C>T uc009wgu.1 - c.38G>A c.(37-39)GGT>GAT p.G13D NM_002524 NP_002515 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene 13 GTP. OM_00220A F NRAS 4893 broad.mit.edu 36 1 115060267 115060267 + Missense_Mutation SNP C T T HDMYZ_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE Phase_I g.chr1:115060267C>T uc009wgu.1 - c.38G>A c.(37-39)GGT>GAT p.G13D NM_002524 NP_002515 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene 13 GTP. OM_00220B R NRAS 4893 broad.mit.edu 36 1 115058052 115058052 + Missense_Mutation SNP T G G rs11554290 by-hapmap TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE Phase_I g.chr1:115058052T>G uc009wgu.1 - c.182A>C c.(181-183)CAA>CCA p.Q61P NM_002524 NP_002515 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene 61 GTP. OM_00224 F NRAS 4893 broad.mit.edu 36 1 115058051 115058051 + Missense_Mutation SNP T A A ME1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE Phase_I g.chr1:115058051T>A uc009wgu.1 - c.183A>T c.(181-183)CAA>CAT p.Q61H NM_002524 NP_002515 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene 61 GTP. OM_00225 F NRAS 4893 broad.mit.edu 36 1 115058051 115058051 + Missense_Mutation SNP T A A RD_SOFT_TISSUE Phase_I g.chr1:115058051T>A uc009wgu.1 - c.183A>T c.(181-183)CAA>CAT p.Q61H NM_002524 NP_002515 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene 61 GTP. OM_00225 F NRAS 4893 broad.mit.edu 36 1 115058052 115058052 + Missense_Mutation SNP T A A rs11554290 by-hapmap MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE Phase_I g.chr1:115058052T>A uc009wgu.1 - c.182A>T c.(181-183)CAA>CTA p.Q61L NM_002524 NP_002515 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene 61 GTP. OM_00226A F NRAS 4893 broad.mit.edu 36 1 115058052 115058052 + Missense_Mutation SNP T A A rs11554290 by-hapmap BFTC905_URINARY_TRACT Phase_I g.chr1:115058052T>A uc009wgu.1 - c.182A>T c.(181-183)CAA>CTA p.Q61L NM_002524 NP_002515 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene 61 GTP. OM_00226A F NRAS 4893 broad.mit.edu 36 1 115058052 115058052 + Missense_Mutation SNP T A A rs11554290 by-hapmap C3A_LIVER Phase_I g.chr1:115058052T>A uc009wgu.1 - c.182A>T c.(181-183)CAA>CTA p.Q61L NM_002524 NP_002515 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene 61 GTP. OM_00226A F NRAS 4893 broad.mit.edu 36 1 115058052 115058052 + Missense_Mutation SNP T A A rs11554290 by-hapmap SNU719_STOMACH Phase_I g.chr1:115058052T>A uc009wgu.1 - c.182A>T c.(181-183)CAA>CTA p.Q61L NM_002524 NP_002515 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene 61 GTP. OM_00226A F NRAS 4893 broad.mit.edu 36 1 115058052 115058052 + Missense_Mutation SNP T A A rs11554290 by-hapmap IPC298_SKIN Phase_I g.chr1:115058052T>A uc009wgu.1 - c.182A>T c.(181-183)CAA>CTA p.Q61L NM_002524 NP_002515 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene 61 GTP. OM_00226A F NRAS 4893 broad.mit.edu 36 1 115058052 115058052 + Missense_Mutation SNP T A A rs11554290 by-hapmap MELJUSO_SKIN Phase_I g.chr1:115058052T>A uc009wgu.1 - c.182A>T c.(181-183)CAA>CTA p.Q61L NM_002524 NP_002515 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene 61 GTP. OM_00226A F NRAS 4893 broad.mit.edu 36 1 115058052 115058052 + Missense_Mutation SNP T A A rs11554290 by-hapmap KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE Phase_I g.chr1:115058052T>A uc009wgu.1 - c.182A>T c.(181-183)CAA>CTA p.Q61L NM_002524 NP_002515 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene 61 GTP. OM_00226A F NRAS 4893 broad.mit.edu 36 1 115058052 115058052 + Missense_Mutation SNP T A A rs11554290 by-hapmap HEPG2_LIVER Phase_I g.chr1:115058052T>A uc009wgu.1 - c.182A>T c.(181-183)CAA>CTA p.Q61L NM_002524 NP_002515 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene 61 GTP. OM_00226A F NRAS 4893 broad.mit.edu 36 1 115058052 115058052 + Missense_Mutation SNP T A A rs11554290 by-hapmap HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE Phase_I g.chr1:115058052T>A uc009wgu.1 - c.182A>T c.(181-183)CAA>CTA p.Q61L NM_002524 NP_002515 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene 61 GTP. OM_00226A F NRAS 4893 broad.mit.edu 36 1 115058052 115058052 + Missense_Mutation SNP T A A rs11554290 by-hapmap OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE Phase_I g.chr1:115058052T>A uc009wgu.1 - c.182A>T c.(181-183)CAA>CTA p.Q61L NM_002524 NP_002515 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene 61 GTP. OM_00226A F NRAS 4893 broad.mit.edu 36 1 115058052 115058052 + Missense_Mutation SNP T A A rs11554290 by-hapmap HCC1195_LUNG Phase_I g.chr1:115058052T>A uc009wgu.1 - c.182A>T c.(181-183)CAA>CTA p.Q61L NM_002524 NP_002515 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene 61 GTP. OM_00226A F NRAS 4893 broad.mit.edu 36 1 115058052 115058052 + Missense_Mutation SNP T C C rs11554290 by-hapmap NCIH2347_LUNG Phase_I g.chr1:115058052T>C uc009wgu.1 - c.182A>G c.(181-183)CAA>CGA p.Q61R NM_002524 NP_002515 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene 61 GTP. OM_00227A F NRAS 4893 broad.mit.edu 36 1 115058052 115058052 + Missense_Mutation SNP T C C rs11554290 by-hapmap KU1919_URINARY_TRACT Phase_I g.chr1:115058052T>C uc009wgu.1 - c.182A>G c.(181-183)CAA>CGA p.Q61R NM_002524 NP_002515 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene 61 GTP. OM_00227A F NRAS 4893 broad.mit.edu 36 1 115058052 115058052 + Missense_Mutation SNP T C C rs11554290 by-hapmap ONS76_CENTRAL_NERVOUS_SYSTEM Phase_I g.chr1:115058052T>C uc009wgu.1 - c.182A>G c.(181-183)CAA>CGA p.Q61R NM_002524 NP_002515 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene 61 GTP. OM_00227A F NRAS 4893 broad.mit.edu 36 1 115058052 115058052 + Missense_Mutation SNP T C C rs11554290 by-hapmap KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE Phase_I g.chr1:115058052T>C uc009wgu.1 - c.182A>G c.(181-183)CAA>CGA p.Q61R NM_002524 NP_002515 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene 61 GTP. OM_00227A F NRAS 4893 broad.mit.edu 36 1 115058052 115058052 + Missense_Mutation SNP T C C rs11554290 by-hapmap HT1197_URINARY_TRACT Phase_I g.chr1:115058052T>C uc009wgu.1 - c.182A>G c.(181-183)CAA>CGA p.Q61R NM_002524 NP_002515 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene 61 GTP. OM_00227A F NRAS 4893 broad.mit.edu 36 1 115058052 115058052 + Missense_Mutation SNP T C C rs11554290 by-hapmap SKMEL2_SKIN Phase_I g.chr1:115058052T>C uc009wgu.1 - c.182A>G c.(181-183)CAA>CGA p.Q61R NM_002524 NP_002515 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene 61 GTP. OM_00227A F NRAS 4893 broad.mit.edu 36 1 115058052 115058052 + Missense_Mutation SNP T C C rs11554290 by-hapmap TT2609C02_THYROID Phase_I g.chr1:115058052T>C uc009wgu.1 - c.182A>G c.(181-183)CAA>CGA p.Q61R NM_002524 NP_002515 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene 61 GTP. OM_00227A F NRAS 4893 broad.mit.edu 36 1 115058052 115058052 + Missense_Mutation SNP T C C rs11554290 by-hapmap HT1197_URINARY_TRACT Phase_I g.chr1:115058052T>C uc009wgu.1 - c.182A>G c.(181-183)CAA>CGA p.Q61R NM_002524 NP_002515 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene 61 GTP. OM_00227B R NRAS 4893 broad.mit.edu 36 1 115058052 115058052 + Missense_Mutation SNP T C C rs11554290 by-hapmap SW1271_LUNG Phase_I g.chr1:115058052T>C uc009wgu.1 - c.182A>G c.(181-183)CAA>CGA p.Q61R NM_002524 NP_002515 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene 61 GTP. OM_00227B R NRAS 4893 broad.mit.edu 36 1 115058052 115058052 + Missense_Mutation SNP T C C rs11554290 by-hapmap SKMEL2_SKIN Phase_I g.chr1:115058052T>C uc009wgu.1 - c.182A>G c.(181-183)CAA>CGA p.Q61R NM_002524 NP_002515 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene 61 GTP. OM_00227B R NRAS 4893 broad.mit.edu 36 1 115058053 115058053 + Missense_Mutation SNP G T T HS944T_SKIN Phase_I g.chr1:115058053G>T uc009wgu.1 - c.181C>A c.(181-183)CAA>AAA p.Q61K NM_002524 NP_002515 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene 61 GTP. OM_00228A F NRAS 4893 broad.mit.edu 36 1 115058053 115058053 + Missense_Mutation SNP G T T OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE Phase_I g.chr1:115058053G>T uc009wgu.1 - c.181C>A c.(181-183)CAA>AAA p.Q61K NM_002524 NP_002515 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene 61 GTP. OM_00228A F NRAS 4893 broad.mit.edu 36 1 115058053 115058053 + Missense_Mutation SNP G T T TYKNU_OVARY Phase_I g.chr1:115058053G>T uc009wgu.1 - c.181C>A c.(181-183)CAA>AAA p.Q61K NM_002524 NP_002515 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene 61 GTP. OM_00228A F NRAS 4893 broad.mit.edu 36 1 115058053 115058053 + Missense_Mutation SNP G T T NCIH2087_LUNG Phase_I g.chr1:115058053G>T uc009wgu.1 - c.181C>A c.(181-183)CAA>AAA p.Q61K NM_002524 NP_002515 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene 61 GTP. OM_00228A F NRAS 4893 broad.mit.edu 36 1 115058053 115058053 + Missense_Mutation SNP G T T NCIH1299_LUNG Phase_I g.chr1:115058053G>T uc009wgu.1 - c.181C>A c.(181-183)CAA>AAA p.Q61K NM_002524 NP_002515 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene 61 GTP. OM_00228A F NRAS 4893 broad.mit.edu 36 1 115058053 115058053 + Missense_Mutation SNP G T T M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE Phase_I g.chr1:115058053G>T uc009wgu.1 - c.181C>A c.(181-183)CAA>AAA p.Q61K NM_002524 NP_002515 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene 61 GTP. OM_00228A F NRAS 4893 broad.mit.edu 36 1 115058053 115058053 + Missense_Mutation SNP G T T HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE Phase_I g.chr1:115058053G>T uc009wgu.1 - c.181C>A c.(181-183)CAA>AAA p.Q61K NM_002524 NP_002515 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene 61 GTP. OM_00228A F NRAS 4893 broad.mit.edu 36 1 115058053 115058053 + Missense_Mutation SNP G T T SKMEL30_SKIN Phase_I g.chr1:115058053G>T uc009wgu.1 - c.181C>A c.(181-183)CAA>AAA p.Q61K NM_002524 NP_002515 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene 61 GTP. OM_00228A F NRAS 4893 broad.mit.edu 36 1 115058053 115058053 + Missense_Mutation SNP G T T SKNAS_AUTONOMIC_GANGLIA Phase_I g.chr1:115058053G>T uc009wgu.1 - c.181C>A c.(181-183)CAA>AAA p.Q61K NM_002524 NP_002515 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene 61 GTP. OM_00228A F NRAS 4893 broad.mit.edu 36 1 115058053 115058053 + Missense_Mutation SNP G T T CHP212_AUTONOMIC_GANGLIA Phase_I g.chr1:115058053G>T uc009wgu.1 - c.181C>A c.(181-183)CAA>AAA p.Q61K NM_002524 NP_002515 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene 61 GTP. OM_00228A F NRAS 4893 broad.mit.edu 36 1 115058053 115058053 + Missense_Mutation SNP G T T HT1080_SOFT_TISSUE Phase_I g.chr1:115058053G>T uc009wgu.1 - c.181C>A c.(181-183)CAA>AAA p.Q61K NM_002524 NP_002515 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene 61 GTP. OM_00228A F NRAS 4893 broad.mit.edu 36 1 115058053 115058053 + Missense_Mutation SNP G T T SKNSH_AUTONOMIC_GANGLIA Phase_I g.chr1:115058053G>T uc009wgu.1 - c.181C>A c.(181-183)CAA>AAA p.Q61K NM_002524 NP_002515 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene 61 GTP. OM_00228A F NRAS 4893 broad.mit.edu 36 1 115058053 115058053 + Missense_Mutation SNP G T T HS936T_SKIN Phase_I g.chr1:115058053G>T uc009wgu.1 - c.181C>A c.(181-183)CAA>AAA p.Q61K NM_002524 NP_002515 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene 61 GTP. OM_00228A F NRAS 4893 broad.mit.edu 36 1 115058053 115058053 + Missense_Mutation SNP G T T HS944T_SKIN Phase_I g.chr1:115058053G>T uc009wgu.1 - c.181C>A c.(181-183)CAA>AAA p.Q61K NM_002524 NP_002515 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene 61 GTP. OM_00228B R NRAS 4893 broad.mit.edu 36 1 115058053 115058053 + Missense_Mutation SNP G T T HCC15_LUNG Phase_I g.chr1:115058053G>T uc009wgu.1 - c.181C>A c.(181-183)CAA>AAA p.Q61K NM_002524 NP_002515 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene 61 GTP. OM_00228B R PIK3CA 5290 broad.mit.edu 36 3 180399570 180399570 + Missense_Mutation SNP G A A SKUT1_SOFT_TISSUE Phase_I g.chr3:180399570G>A uc003fjk.1 + c.263G>A c.(262-264)CGA>CAA p.R88Q NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 88 OM_00241 R PIK3CA 5290 broad.mit.edu 36 3 180399570 180399570 + Missense_Mutation SNP G A A JHUEM1_ENDOMETRIUM Phase_I g.chr3:180399570G>A uc003fjk.1 + c.263G>A c.(262-264)CGA>CAA p.R88Q NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 88 OM_00241 R PIK3CA 5290 broad.mit.edu 36 3 180399570 180399570 + Missense_Mutation SNP G A A HT115_LARGE_INTESTINE Phase_I g.chr3:180399570G>A uc003fjk.1 + c.263G>A c.(262-264)CGA>CAA p.R88Q NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 88 OM_00241 R PIK3CA 5290 broad.mit.edu 36 3 180399570 180399570 + Missense_Mutation SNP G A A SNGM_ENDOMETRIUM Phase_I g.chr3:180399570G>A uc003fjk.1 + c.263G>A c.(262-264)CGA>CAA p.R88Q NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 88 OM_00241 R PIK3CA 5290 broad.mit.edu 36 3 180410674 180410674 + Missense_Mutation SNP T C C EFM192A_BREAST Phase_I g.chr3:180410674T>C uc003fjk.1 + c.1258T>C c.(1258-1260)TGT>CGT p.C420R NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 420 C2. OM_00243 R PIK3CA 5290 broad.mit.edu 36 3 180410674 180410674 + Missense_Mutation SNP T C C OVISE_OVARY Phase_I g.chr3:180410674T>C uc003fjk.1 + c.1258T>C c.(1258-1260)TGT>CGT p.C420R NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 420 C2. OM_00243 R PIK3CA 5290 broad.mit.edu 36 3 180410674 180410674 + Missense_Mutation SNP T C C CCK81_LARGE_INTESTINE Phase_I g.chr3:180410674T>C uc003fjk.1 + c.1258T>C c.(1258-1260)TGT>CGT p.C420R NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 420 C2. OM_00243 R PIK3CA 5290 broad.mit.edu 36 3 180410674 180410674 + Missense_Mutation SNP T C C HEC151_ENDOMETRIUM Phase_I g.chr3:180410674T>C uc003fjk.1 + c.1258T>C c.(1258-1260)TGT>CGT p.C420R NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 420 C2. OM_00243 R PIK3CA 5290 broad.mit.edu 36 3 180418768 180418768 + Missense_Mutation SNP C G G BT20_BREAST Phase_I g.chr3:180418768C>G uc003fjk.1 + c.1616C>G c.(1615-1617)CCT>CGT p.P539R NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 539 OM_00244 R PIK3CA 5290 broad.mit.edu 36 3 180418768 180418768 + Missense_Mutation SNP C G G MFE296_ENDOMETRIUM Phase_I g.chr3:180418768C>G uc003fjk.1 + c.1616C>G c.(1615-1617)CCT>CGT p.P539R NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 539 OM_00244 R PIK3CA 5290 broad.mit.edu 36 3 180418776 180418776 + Missense_Mutation SNP G A A HGC27_STOMACH Phase_I g.chr3:180418776G>A uc003fjk.1 + c.1624G>A c.(1624-1626)GAA>AAA p.E542K NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 542 OM_00245A F PIK3CA 5290 broad.mit.edu 36 3 180418776 180418776 + Missense_Mutation SNP G A A VMCUB1_URINARY_TRACT Phase_I g.chr3:180418776G>A uc003fjk.1 + c.1624G>A c.(1624-1626)GAA>AAA p.E542K NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 542 OM_00245A F PIK3CA 5290 broad.mit.edu 36 3 180418776 180418776 + Missense_Mutation SNP G A A NCIH1341_LUNG Phase_I g.chr3:180418776G>A uc003fjk.1 + c.1624G>A c.(1624-1626)GAA>AAA p.E542K NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 542 OM_00245A F PIK3CA 5290 broad.mit.edu 36 3 180418776 180418776 + Missense_Mutation SNP G A A SW948_LARGE_INTESTINE Phase_I g.chr3:180418776G>A uc003fjk.1 + c.1624G>A c.(1624-1626)GAA>AAA p.E542K NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 542 OM_00245A F PIK3CA 5290 broad.mit.edu 36 3 180418776 180418776 + Missense_Mutation SNP G A A BT483_BREAST Phase_I g.chr3:180418776G>A uc003fjk.1 + c.1624G>A c.(1624-1626)GAA>AAA p.E542K NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 542 OM_00245A F PIK3CA 5290 broad.mit.edu 36 3 180418776 180418776 + Missense_Mutation SNP G A A JHUEM1_ENDOMETRIUM Phase_I g.chr3:180418776G>A uc003fjk.1 + c.1624G>A c.(1624-1626)GAA>AAA p.E542K NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 542 OM_00245A F PIK3CA 5290 broad.mit.edu 36 3 180418776 180418776 + Missense_Mutation SNP G A A IM95_STOMACH Phase_I g.chr3:180418776G>A uc003fjk.1 + c.1624G>A c.(1624-1626)GAA>AAA p.E542K NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 542 OM_00245A F PIK3CA 5290 broad.mit.edu 36 3 180418776 180418776 + Missense_Mutation SNP G A A T84_LARGE_INTESTINE Phase_I g.chr3:180418776G>A uc003fjk.1 + c.1624G>A c.(1624-1626)GAA>AAA p.E542K NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 542 OM_00245A F PIK3CA 5290 broad.mit.edu 36 3 180418776 180418776 + Missense_Mutation SNP G A A CAL51_BREAST Phase_I g.chr3:180418776G>A uc003fjk.1 + c.1624G>A c.(1624-1626)GAA>AAA p.E542K NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 542 OM_00245A F PIK3CA 5290 broad.mit.edu 36 3 180418785 180418785 + Missense_Mutation SNP G A A MCF7_BREAST Phase_I g.chr3:180418785G>A uc003fjk.1 + c.1633G>A c.(1633-1635)GAG>AAG p.E545K NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 545 OM_00246A F PIK3CA 5290 broad.mit.edu 36 3 180418785 180418785 + Missense_Mutation SNP G A A HCC202_BREAST Phase_I g.chr3:180418785G>A uc003fjk.1 + c.1633G>A c.(1633-1635)GAG>AAG p.E545K NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 545 OM_00246A F PIK3CA 5290 broad.mit.edu 36 3 180418785 180418785 + Missense_Mutation SNP G A A DLD1_LARGE_INTESTINE Phase_I g.chr3:180418785G>A uc003fjk.1 + c.1633G>A c.(1633-1635)GAG>AAG p.E545K NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 545 OM_00246A F PIK3CA 5290 broad.mit.edu 36 3 180418785 180418785 + Missense_Mutation SNP G A A MKN1_STOMACH Phase_I g.chr3:180418785G>A uc003fjk.1 + c.1633G>A c.(1633-1635)GAG>AAG p.E545K NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 545 OM_00246A F PIK3CA 5290 broad.mit.edu 36 3 180418785 180418785 + Missense_Mutation SNP G A A NCIH596_LUNG Phase_I g.chr3:180418785G>A uc003fjk.1 + c.1633G>A c.(1633-1635)GAG>AAG p.E545K NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 545 OM_00246A F PIK3CA 5290 broad.mit.edu 36 3 180418785 180418785 + Missense_Mutation SNP G A A HCT15_LARGE_INTESTINE Phase_I g.chr3:180418785G>A uc003fjk.1 + c.1633G>A c.(1633-1635)GAG>AAG p.E545K NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 545 OM_00246A F PIK3CA 5290 broad.mit.edu 36 3 180418785 180418785 + Missense_Mutation SNP G A A KYSE510_OESOPHAGUS Phase_I g.chr3:180418785G>A uc003fjk.1 + c.1633G>A c.(1633-1635)GAG>AAG p.E545K NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 545 OM_00246A F PIK3CA 5290 broad.mit.edu 36 3 180418785 180418785 + Missense_Mutation SNP G A A RERFLCSQ1_LUNG Phase_I g.chr3:180418785G>A uc003fjk.1 + c.1633G>A c.(1633-1635)GAG>AAG p.E545K NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 545 OM_00246A F PIK3CA 5290 broad.mit.edu 36 3 180418785 180418785 + Missense_Mutation SNP G A A MDAMB361_BREAST Phase_I g.chr3:180418785G>A uc003fjk.1 + c.1633G>A c.(1633-1635)GAG>AAG p.E545K NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 545 OM_00246A F PIK3CA 5290 broad.mit.edu 36 3 180418785 180418785 + Missense_Mutation SNP G A A HT1197_URINARY_TRACT Phase_I g.chr3:180418785G>A uc003fjk.1 + c.1633G>A c.(1633-1635)GAG>AAG p.E545K NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 545 OM_00246A F PIK3CA 5290 broad.mit.edu 36 3 180418785 180418785 + Missense_Mutation SNP G A A BC3C_URINARY_TRACT Phase_I g.chr3:180418785G>A uc003fjk.1 + c.1633G>A c.(1633-1635)GAG>AAG p.E545K NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 545 OM_00246A F PIK3CA 5290 broad.mit.edu 36 3 180418785 180418785 + Missense_Mutation SNP G A A HSC4_UPPER_AERODIGESTIVE_TRACT Phase_I g.chr3:180418785G>A uc003fjk.1 + c.1633G>A c.(1633-1635)GAG>AAG p.E545K NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 545 OM_00246A F PIK3CA 5290 broad.mit.edu 36 3 180418785 180418785 + Missense_Mutation SNP G A A KPL1_BREAST Phase_I g.chr3:180418785G>A uc003fjk.1 + c.1633G>A c.(1633-1635)GAG>AAG p.E545K NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 545 OM_00246A F PIK3CA 5290 broad.mit.edu 36 3 180418785 180418785 + Missense_Mutation SNP G A A HCT8_LARGE_INTESTINE Phase_I g.chr3:180418785G>A uc003fjk.1 + c.1633G>A c.(1633-1635)GAG>AAG p.E545K NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 545 OM_00246A F PIK3CA 5290 broad.mit.edu 36 3 180418785 180418785 + Missense_Mutation SNP G A A TCCSUP_URINARY_TRACT Phase_I g.chr3:180418785G>A uc003fjk.1 + c.1633G>A c.(1633-1635)GAG>AAG p.E545K NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 545 OM_00246A F PIK3CA 5290 broad.mit.edu 36 3 180418785 180418785 + Missense_Mutation SNP G A A L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE Phase_I g.chr3:180418785G>A uc003fjk.1 + c.1633G>A c.(1633-1635)GAG>AAG p.E545K NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 545 OM_00246A F PIK3CA 5290 broad.mit.edu 36 3 180418785 180418785 + Missense_Mutation SNP G A A NCIH508_LARGE_INTESTINE Phase_I g.chr3:180418785G>A uc003fjk.1 + c.1633G>A c.(1633-1635)GAG>AAG p.E545K NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 545 OM_00246A F PIK3CA 5290 broad.mit.edu 36 3 180418785 180418785 + Missense_Mutation SNP G A A HUH28_BILIARY_TRACT Phase_I g.chr3:180418785G>A uc003fjk.1 + c.1633G>A c.(1633-1635)GAG>AAG p.E545K NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 545 OM_00246A F PIK3CA 5290 broad.mit.edu 36 3 180418785 180418785 + Missense_Mutation SNP G A A BFTC909_KIDNEY Phase_I g.chr3:180418785G>A uc003fjk.1 + c.1633G>A c.(1633-1635)GAG>AAG p.E545K NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 545 OM_00246A F PIK3CA 5290 broad.mit.edu 36 3 180418785 180418785 + Missense_Mutation SNP G A A TE5_OESOPHAGUS Phase_I g.chr3:180418785G>A uc003fjk.1 + c.1633G>A c.(1633-1635)GAG>AAG p.E545K NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 545 OM_00246A F PIK3CA 5290 broad.mit.edu 36 3 180418785 180418785 + Missense_Mutation SNP G A A NCIH460_LUNG Phase_I g.chr3:180418785G>A uc003fjk.1 + c.1633G>A c.(1633-1635)GAG>AAG p.E545K NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 545 OM_00246A F PIK3CA 5290 broad.mit.edu 36 3 180418785 180418785 + Missense_Mutation SNP G A A ESS1_ENDOMETRIUM Phase_I g.chr3:180418785G>A uc003fjk.1 + c.1633G>A c.(1633-1635)GAG>AAG p.E545K NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 545 OM_00246A F PIK3CA 5290 broad.mit.edu 36 3 180418785 180418785 + Missense_Mutation SNP G A A KYSE510_OESOPHAGUS Phase_I g.chr3:180418785G>A uc003fjk.1 + c.1633G>A c.(1633-1635)GAG>AAG p.E545K NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 545 OM_00246B R PIK3CA 5290 broad.mit.edu 36 3 180418785 180418785 + Missense_Mutation SNP G A A NCIH460_LUNG Phase_I g.chr3:180418785G>A uc003fjk.1 + c.1633G>A c.(1633-1635)GAG>AAG p.E545K NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 545 OM_00246B R PIK3CA 5290 broad.mit.edu 36 3 180418785 180418785 + Missense_Mutation SNP G A A MDAMB361_BREAST Phase_I g.chr3:180418785G>A uc003fjk.1 + c.1633G>A c.(1633-1635)GAG>AAG p.E545K NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 545 OM_00246B R PIK3CA 5290 broad.mit.edu 36 3 180418785 180418785 + Missense_Mutation SNP G A A NCIH596_LUNG Phase_I g.chr3:180418785G>A uc003fjk.1 + c.1633G>A c.(1633-1635)GAG>AAG p.E545K NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 545 OM_00246B R PIK3CA 5290 broad.mit.edu 36 3 180418785 180418785 + Missense_Mutation SNP G A A TCCSUP_URINARY_TRACT Phase_I g.chr3:180418785G>A uc003fjk.1 + c.1633G>A c.(1633-1635)GAG>AAG p.E545K NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 545 OM_00246B R PIK3CA 5290 broad.mit.edu 36 3 180418785 180418785 + Missense_Mutation SNP G A A RERFLCSQ1_LUNG Phase_I g.chr3:180418785G>A uc003fjk.1 + c.1633G>A c.(1633-1635)GAG>AAG p.E545K NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 545 OM_00246B R PIK3CA 5290 broad.mit.edu 36 3 180418785 180418785 + Missense_Mutation SNP G A A TE5_OESOPHAGUS Phase_I g.chr3:180418785G>A uc003fjk.1 + c.1633G>A c.(1633-1635)GAG>AAG p.E545K NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 545 OM_00246B R PIK3CA 5290 broad.mit.edu 36 3 180418785 180418785 + Missense_Mutation SNP G A A HCT15_LARGE_INTESTINE Phase_I g.chr3:180418785G>A uc003fjk.1 + c.1633G>A c.(1633-1635)GAG>AAG p.E545K NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 545 OM_00246B R PIK3CA 5290 broad.mit.edu 36 3 180418785 180418785 + Missense_Mutation SNP G A A DLD1_LARGE_INTESTINE Phase_I g.chr3:180418785G>A uc003fjk.1 + c.1633G>A c.(1633-1635)GAG>AAG p.E545K NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 545 OM_00246B R PIK3CA 5290 broad.mit.edu 36 3 180418785 180418785 + Missense_Mutation SNP G A A ESS1_ENDOMETRIUM Phase_I g.chr3:180418785G>A uc003fjk.1 + c.1633G>A c.(1633-1635)GAG>AAG p.E545K NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 545 OM_00246B R PIK3CA 5290 broad.mit.edu 36 3 180434779 180434779 + Missense_Mutation SNP A T T GP2D_LARGE_INTESTINE Phase_I g.chr3:180434779A>T uc003fjk.1 + c.3140A>T c.(3139-3141)CAT>CTT p.H1047L NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 1047 PI3K/PI4K. OM_00249 F PIK3CA 5290 broad.mit.edu 36 3 180434779 180434779 + Missense_Mutation SNP A T T EFM19_BREAST Phase_I g.chr3:180434779A>T uc003fjk.1 + c.3140A>T c.(3139-3141)CAT>CTT p.H1047L NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 1047 PI3K/PI4K. OM_00249 F PIK3CA 5290 broad.mit.edu 36 3 180434779 180434779 + Missense_Mutation SNP A T T OAW42_OVARY Phase_I g.chr3:180434779A>T uc003fjk.1 + c.3140A>T c.(3139-3141)CAT>CTT p.H1047L NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 1047 PI3K/PI4K. OM_00249 F PIK3CA 5290 broad.mit.edu 36 3 180434779 180434779 + Missense_Mutation SNP A G G HCC1954_BREAST Phase_I g.chr3:180434779A>G uc003fjk.1 + c.3140A>G c.(3139-3141)CAT>CGT p.H1047R NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 1047 PI3K/PI4K. OM_00250A F PIK3CA 5290 broad.mit.edu 36 3 180434779 180434779 + Missense_Mutation SNP A G G DETROIT562_UPPER_AERODIGESTIVE_TRACT Phase_I g.chr3:180434779A>G uc003fjk.1 + c.3140A>G c.(3139-3141)CAT>CGT p.H1047R NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 1047 PI3K/PI4K. OM_00250A F PIK3CA 5290 broad.mit.edu 36 3 180434779 180434779 + Missense_Mutation SNP A G G SKOV3_OVARY Phase_I g.chr3:180434779A>G uc003fjk.1 + c.3140A>G c.(3139-3141)CAT>CGT p.H1047R NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 1047 PI3K/PI4K. OM_00250A F PIK3CA 5290 broad.mit.edu 36 3 180434779 180434779 + Missense_Mutation SNP A G G CAL29_URINARY_TRACT Phase_I g.chr3:180434779A>G uc003fjk.1 + c.3140A>G c.(3139-3141)CAT>CGT p.H1047R NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 1047 PI3K/PI4K. OM_00250A F PIK3CA 5290 broad.mit.edu 36 3 180434779 180434779 + Missense_Mutation SNP A G G MCAS_OVARY Phase_I g.chr3:180434779A>G uc003fjk.1 + c.3140A>G c.(3139-3141)CAT>CGT p.H1047R NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 1047 PI3K/PI4K. OM_00250A F PIK3CA 5290 broad.mit.edu 36 3 180434779 180434779 + Missense_Mutation SNP A G G CAL33_UPPER_AERODIGESTIVE_TRACT Phase_I g.chr3:180434779A>G uc003fjk.1 + c.3140A>G c.(3139-3141)CAT>CGT p.H1047R NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 1047 PI3K/PI4K. OM_00250A F PIK3CA 5290 broad.mit.edu 36 3 180434779 180434779 + Missense_Mutation SNP A G G HCT116_LARGE_INTESTINE Phase_I g.chr3:180434779A>G uc003fjk.1 + c.3140A>G c.(3139-3141)CAT>CGT p.H1047R NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 1047 PI3K/PI4K. OM_00250A F PIK3CA 5290 broad.mit.edu 36 3 180434779 180434779 + Missense_Mutation SNP A G G LS180_LARGE_INTESTINE Phase_I g.chr3:180434779A>G uc003fjk.1 + c.3140A>G c.(3139-3141)CAT>CGT p.H1047R NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 1047 PI3K/PI4K. OM_00250A F PIK3CA 5290 broad.mit.edu 36 3 180434779 180434779 + Missense_Mutation SNP A G G RKO_LARGE_INTESTINE Phase_I g.chr3:180434779A>G uc003fjk.1 + c.3140A>G c.(3139-3141)CAT>CGT p.H1047R NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 1047 PI3K/PI4K. OM_00250A F PIK3CA 5290 broad.mit.edu 36 3 180434779 180434779 + Missense_Mutation SNP A G G UACC893_BREAST Phase_I g.chr3:180434779A>G uc003fjk.1 + c.3140A>G c.(3139-3141)CAT>CGT p.H1047R NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 1047 PI3K/PI4K. OM_00250A F PIK3CA 5290 broad.mit.edu 36 3 180434779 180434779 + Missense_Mutation SNP A G G CAL148_BREAST Phase_I g.chr3:180434779A>G uc003fjk.1 + c.3140A>G c.(3139-3141)CAT>CGT p.H1047R NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 1047 PI3K/PI4K. OM_00250A F PIK3CA 5290 broad.mit.edu 36 3 180434779 180434779 + Missense_Mutation SNP A G G BT20_BREAST Phase_I g.chr3:180434779A>G uc003fjk.1 + c.3140A>G c.(3139-3141)CAT>CGT p.H1047R NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 1047 PI3K/PI4K. OM_00250A F PIK3CA 5290 broad.mit.edu 36 3 180434779 180434779 + Missense_Mutation SNP A G G T47D_BREAST Phase_I g.chr3:180434779A>G uc003fjk.1 + c.3140A>G c.(3139-3141)CAT>CGT p.H1047R NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 1047 PI3K/PI4K. OM_00250A F PIK3CA 5290 broad.mit.edu 36 3 180434779 180434779 + Missense_Mutation SNP A G G HSC2_UPPER_AERODIGESTIVE_TRACT Phase_I g.chr3:180434779A>G uc003fjk.1 + c.3140A>G c.(3139-3141)CAT>CGT p.H1047R NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 1047 PI3K/PI4K. OM_00250A F PIK3CA 5290 broad.mit.edu 36 3 180434779 180434779 + Missense_Mutation SNP A G G NCIH1048_LUNG Phase_I g.chr3:180434779A>G uc003fjk.1 + c.3140A>G c.(3139-3141)CAT>CGT p.H1047R NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 1047 PI3K/PI4K. OM_00250A F PIK3CA 5290 broad.mit.edu 36 3 180434779 180434779 + Missense_Mutation SNP A G G MDAMB453_BREAST Phase_I g.chr3:180434779A>G uc003fjk.1 + c.3140A>G c.(3139-3141)CAT>CGT p.H1047R NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 1047 PI3K/PI4K. OM_00250A F PIK3CA 5290 broad.mit.edu 36 3 180434779 180434779 + Missense_Mutation SNP A G G LS180_LARGE_INTESTINE Phase_I g.chr3:180434779A>G uc003fjk.1 + c.3140A>G c.(3139-3141)CAT>CGT p.H1047R NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 1047 PI3K/PI4K. OM_00250B R PIK3CA 5290 broad.mit.edu 36 3 180434779 180434779 + Missense_Mutation SNP A G G HCT116_LARGE_INTESTINE Phase_I g.chr3:180434779A>G uc003fjk.1 + c.3140A>G c.(3139-3141)CAT>CGT p.H1047R NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 1047 PI3K/PI4K. OM_00250B R PIK3CA 5290 broad.mit.edu 36 3 180434779 180434779 + Missense_Mutation SNP A G G SNU840_OVARY Phase_I g.chr3:180434779A>G uc003fjk.1 + c.3140A>G c.(3139-3141)CAT>CGT p.H1047R NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 1047 PI3K/PI4K. OM_00250B R PIK3CA 5290 broad.mit.edu 36 3 180434779 180434779 + Missense_Mutation SNP A G G SNUC5_LARGE_INTESTINE Phase_I g.chr3:180434779A>G uc003fjk.1 + c.3140A>G c.(3139-3141)CAT>CGT p.H1047R NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 1047 PI3K/PI4K. OM_00250B R PIK3CA 5290 broad.mit.edu 36 3 180434779 180434779 + Missense_Mutation SNP A G G DETROIT562_UPPER_AERODIGESTIVE_TRACT Phase_I g.chr3:180434779A>G uc003fjk.1 + c.3140A>G c.(3139-3141)CAT>CGT p.H1047R NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 1047 PI3K/PI4K. OM_00250B R PIK3CA 5290 broad.mit.edu 36 3 180434779 180434779 + Missense_Mutation SNP A G G SNU407_LARGE_INTESTINE Phase_I g.chr3:180434779A>G uc003fjk.1 + c.3140A>G c.(3139-3141)CAT>CGT p.H1047R NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 1047 PI3K/PI4K. OM_00250B R PIK3CA 5290 broad.mit.edu 36 3 180434779 180434779 + Missense_Mutation SNP A G G MCAS_OVARY Phase_I g.chr3:180434779A>G uc003fjk.1 + c.3140A>G c.(3139-3141)CAT>CGT p.H1047R NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 1047 PI3K/PI4K. OM_00250B R PIK3CA 5290 broad.mit.edu 36 3 180434779 180434779 + Missense_Mutation SNP A G G HCC1954_BREAST Phase_I g.chr3:180434779A>G uc003fjk.1 + c.3140A>G c.(3139-3141)CAT>CGT p.H1047R NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 1047 PI3K/PI4K. OM_00250B R PIK3CA 5290 broad.mit.edu 36 3 180434779 180434779 + Missense_Mutation SNP A G G SNU1076_UPPER_AERODIGESTIVE_TRACT Phase_I g.chr3:180434779A>G uc003fjk.1 + c.3140A>G c.(3139-3141)CAT>CGT p.H1047R NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 1047 PI3K/PI4K. OM_00250B R PIK3CA 5290 broad.mit.edu 36 3 180434779 180434779 + Missense_Mutation SNP A G G BT20_BREAST Phase_I g.chr3:180434779A>G uc003fjk.1 + c.3140A>G c.(3139-3141)CAT>CGT p.H1047R NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 1047 PI3K/PI4K. OM_00250B R PIK3CA 5290 broad.mit.edu 36 3 180434778 180434778 + Missense_Mutation SNP C T T TOV21G_OVARY Phase_I g.chr3:180434778C>T uc003fjk.1 + c.3139C>T c.(3139-3141)CAT>TAT p.H1047Y NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 1047 PI3K/PI4K. OM_00251 R PIK3CA 5290 broad.mit.edu 36 3 180434778 180434778 + Missense_Mutation SNP C T T MFE280_ENDOMETRIUM Phase_I g.chr3:180434778C>T uc003fjk.1 + c.3139C>T c.(3139-3141)CAT>TAT p.H1047Y NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 1047 PI3K/PI4K. OM_00251 R RET 5979 broad.mit.edu 36 10 42929956 42929956 + Missense_Mutation SNP C G G TT_THYROID Phase_I g.chr10:42929956C>G uc001jal.1 + c.1902C>G c.(1900-1902)TGC>TGG p.C634W RET_uc001jak.1_Missense_Mutation_p.C634W NM_020975 NP_066124 P07949 RET_HUMAN ret proto-oncogene isoform a 634 Extracellular (Potential). OM_00257 R APC 324 broad.mit.edu 36 5 112202530 112202530 + Nonsense_Mutation SNP C T T SW948_LARGE_INTESTINE Phase_I g.chr5:112202530C>T uc010jby.1 + c.3340C>T c.(3340-3342)CGA>TGA p.R1114* APC_uc003kpz.2_Nonsense_Mutation_p.R1114*|APC_uc003kpy.2_Nonsense_Mutation_p.R1114*|APC_uc010jbz.1_Nonsense_Mutation_p.R831*|APC_uc010jca.1_Nonsense_Mutation_p.R414* NM_001127511 NP_001120983 P25054 APC_HUMAN adenomatous polyposis coli 1114 Ser-rich.|Responsible for down-regulation through a process mediated by direct ubiquitination. OM_00317 R APC 324 broad.mit.edu 36 5 112202530 112202530 + Nonsense_Mutation SNP C T T LOVO_LARGE_INTESTINE Phase_I g.chr5:112202530C>T uc010jby.1 + c.3340C>T c.(3340-3342)CGA>TGA p.R1114* APC_uc003kpz.2_Nonsense_Mutation_p.R1114*|APC_uc003kpy.2_Nonsense_Mutation_p.R1114*|APC_uc010jbz.1_Nonsense_Mutation_p.R831*|APC_uc010jca.1_Nonsense_Mutation_p.R414* NM_001127511 NP_001120983 P25054 APC_HUMAN adenomatous polyposis coli 1114 Ser-rich.|Responsible for down-regulation through a process mediated by direct ubiquitination. OM_00317 R APC 324 broad.mit.edu 36 5 112203202 112203202 + Nonsense_Mutation SNP C T T SW620_LARGE_INTESTINE Phase_I g.chr5:112203202C>T uc010jby.1 + c.4012C>T c.(4012-4014)CAG>TAG p.Q1338* APC_uc003kpz.2_Nonsense_Mutation_p.Q1338*|APC_uc003kpy.2_Nonsense_Mutation_p.Q1338*|APC_uc010jbz.1_Nonsense_Mutation_p.Q1055*|APC_uc010jca.1_Nonsense_Mutation_p.Q638* NM_001127511 NP_001120983 P25054 APC_HUMAN adenomatous polyposis coli 1338 Ser-rich. OM_00318 F APC 324 broad.mit.edu 36 5 112203202 112203202 + Nonsense_Mutation SNP C T T SW480_LARGE_INTESTINE Phase_I g.chr5:112203202C>T uc010jby.1 + c.4012C>T c.(4012-4014)CAG>TAG p.Q1338* APC_uc003kpz.2_Nonsense_Mutation_p.Q1338*|APC_uc003kpy.2_Nonsense_Mutation_p.Q1338*|APC_uc010jbz.1_Nonsense_Mutation_p.Q1055*|APC_uc010jca.1_Nonsense_Mutation_p.Q638* NM_001127511 NP_001120983 P25054 APC_HUMAN adenomatous polyposis coli 1338 Ser-rich. OM_00318 F APC 324 broad.mit.edu 36 5 112203289 112203289 + Nonsense_Mutation SNP C T T C2BBE1_LARGE_INTESTINE Phase_I g.chr5:112203289C>T uc010jby.1 + c.4099C>T c.(4099-4101)CAG>TAG p.Q1367* APC_uc003kpz.2_Nonsense_Mutation_p.Q1367*|APC_uc003kpy.2_Nonsense_Mutation_p.Q1367*|APC_uc010jbz.1_Nonsense_Mutation_p.Q1084*|APC_uc010jca.1_Nonsense_Mutation_p.Q667* NM_001127511 NP_001120983 P25054 APC_HUMAN adenomatous polyposis coli 1367 Ser-rich. OM_00319 F APC 324 broad.mit.edu 36 5 112203289 112203289 + Nonsense_Mutation SNP C T T HCC2935_LUNG Phase_I g.chr5:112203289C>T uc010jby.1 + c.4099C>T c.(4099-4101)CAG>TAG p.Q1367* APC_uc003kpz.2_Nonsense_Mutation_p.Q1367*|APC_uc003kpy.2_Nonsense_Mutation_p.Q1367*|APC_uc010jbz.1_Nonsense_Mutation_p.Q1084*|APC_uc010jca.1_Nonsense_Mutation_p.Q667* NM_001127511 NP_001120983 P25054 APC_HUMAN adenomatous polyposis coli 1367 Ser-rich. OM_00319 F APC 324 broad.mit.edu 36 5 112203538 112203538 + Nonsense_Mutation SNP C T T LS123_LARGE_INTESTINE Phase_I g.chr5:112203538C>T uc010jby.1 + c.4348C>T c.(4348-4350)CGA>TGA p.R1450* APC_uc003kpz.2_Nonsense_Mutation_p.R1450*|APC_uc003kpy.2_Nonsense_Mutation_p.R1450*|APC_uc010jbz.1_Nonsense_Mutation_p.R1167*|APC_uc010jca.1_Nonsense_Mutation_p.R750* NM_001127511 NP_001120983 P25054 APC_HUMAN adenomatous polyposis coli 1450 Ser-rich. OM_00320A F APC 324 broad.mit.edu 36 5 112203538 112203538 + Nonsense_Mutation SNP C T T SNU81_LARGE_INTESTINE Phase_I g.chr5:112203538C>T uc010jby.1 + c.4348C>T c.(4348-4350)CGA>TGA p.R1450* APC_uc003kpz.2_Nonsense_Mutation_p.R1450*|APC_uc003kpy.2_Nonsense_Mutation_p.R1450*|APC_uc010jbz.1_Nonsense_Mutation_p.R1167*|APC_uc010jca.1_Nonsense_Mutation_p.R750* NM_001127511 NP_001120983 P25054 APC_HUMAN adenomatous polyposis coli 1450 Ser-rich. OM_00320A F APC 324 broad.mit.edu 36 5 112203538 112203538 + Nonsense_Mutation SNP C T T SW1417_LARGE_INTESTINE Phase_I g.chr5:112203538C>T uc010jby.1 + c.4348C>T c.(4348-4350)CGA>TGA p.R1450* APC_uc003kpz.2_Nonsense_Mutation_p.R1450*|APC_uc003kpy.2_Nonsense_Mutation_p.R1450*|APC_uc010jbz.1_Nonsense_Mutation_p.R1167*|APC_uc010jca.1_Nonsense_Mutation_p.R750* NM_001127511 NP_001120983 P25054 APC_HUMAN adenomatous polyposis coli 1450 Ser-rich. OM_00320A F APC 324 broad.mit.edu 36 5 112203538 112203538 + Nonsense_Mutation SNP C T T SW837_LARGE_INTESTINE Phase_I g.chr5:112203538C>T uc010jby.1 + c.4348C>T c.(4348-4350)CGA>TGA p.R1450* APC_uc003kpz.2_Nonsense_Mutation_p.R1450*|APC_uc003kpy.2_Nonsense_Mutation_p.R1450*|APC_uc010jbz.1_Nonsense_Mutation_p.R1167*|APC_uc010jca.1_Nonsense_Mutation_p.R750* NM_001127511 NP_001120983 P25054 APC_HUMAN adenomatous polyposis coli 1450 Ser-rich. OM_00320A F APC 324 broad.mit.edu 36 5 112203538 112203538 + Nonsense_Mutation SNP C T T MKN74_STOMACH Phase_I g.chr5:112203538C>T uc010jby.1 + c.4348C>T c.(4348-4350)CGA>TGA p.R1450* APC_uc003kpz.2_Nonsense_Mutation_p.R1450*|APC_uc003kpy.2_Nonsense_Mutation_p.R1450*|APC_uc010jbz.1_Nonsense_Mutation_p.R1167*|APC_uc010jca.1_Nonsense_Mutation_p.R750* NM_001127511 NP_001120983 P25054 APC_HUMAN adenomatous polyposis coli 1450 Ser-rich. OM_00320A F APC 324 broad.mit.edu 36 5 112203538 112203538 + Nonsense_Mutation SNP C T T SNU61_LARGE_INTESTINE Phase_I g.chr5:112203538C>T uc010jby.1 + c.4348C>T c.(4348-4350)CGA>TGA p.R1450* APC_uc003kpz.2_Nonsense_Mutation_p.R1450*|APC_uc003kpy.2_Nonsense_Mutation_p.R1450*|APC_uc010jbz.1_Nonsense_Mutation_p.R1167*|APC_uc010jca.1_Nonsense_Mutation_p.R750* NM_001127511 NP_001120983 P25054 APC_HUMAN adenomatous polyposis coli 1450 Ser-rich. OM_00320A F BRAF 673 broad.mit.edu 36 7 140099606 140099606 + Missense_Mutation SNP C T T IGR1_SKIN Phase_I g.chr7:140099606C>T uc003vwc.2 - c.1798G>A c.(1798-1800)GTG>ATG p.V600M NM_004333 NP_004324 P15056 BRAF_HUMAN B-Raf 600 Protein kinase. OM_00344 R BRAF 673 broad.mit.edu 36 7 140099606 140099606 + Missense_Mutation SNP C T T MDST8_LARGE_INTESTINE Phase_I g.chr7:140099606C>T uc003vwc.2 - c.1798G>A c.(1798-1800)GTG>ATG p.V600M NM_004333 NP_004324 P15056 BRAF_HUMAN B-Raf 600 Protein kinase. OM_00344 R BRAF 673 broad.mit.edu 36 7 140099604 140099605 + Missense_Mutation DNP CA AT AT K029AX_SKIN Phase_I g.chr7:140099604_140099605CA>AT uc003vwc.2 - c.1799_1800TG>AT c.(1798-1800)GTG>GAT p.V600D NM_004333 NP_004324 P15056 BRAF_HUMAN B-Raf 600 Protein kinase. OM_00355 F BRAF 673 broad.mit.edu 36 7 140099604 140099605 + Missense_Mutation DNP CA AT AT WM2664_SKIN Phase_I g.chr7:140099604_140099605CA>AT uc003vwc.2 - c.1799_1800TG>AT c.(1798-1800)GTG>GAT p.V600D NM_004333 NP_004324 P15056 BRAF_HUMAN B-Raf 600 Protein kinase. OM_00355 F BRAF 673 broad.mit.edu 36 7 140099604 140099605 + Missense_Mutation DNP CA AT AT WM115_SKIN Phase_I g.chr7:140099604_140099605CA>AT uc003vwc.2 - c.1799_1800TG>AT c.(1798-1800)GTG>GAT p.V600D NM_004333 NP_004324 P15056 BRAF_HUMAN B-Raf 600 Protein kinase. OM_00355 F CDKN2A 1029 broad.mit.edu 36 9 21961177 21961177 + Missense_Mutation SNP C A A A375_SKIN Phase_I g.chr9:21961177C>A uc003zpl.1 - c.347G>T c.(346-348)GGA>GTA p.G116V MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpk.1_Nonsense_Mutation_p.E61*|CDKN2A_uc003zpj.1_3'UTR|CDKN2A_uc010miu.1_Non-coding_Transcript NM_058195 NP_478102 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A isoform 4 51 ANK 2. OM_00373A F CDKN2A 1029 broad.mit.edu 36 9 21961153 21961153 + Missense_Mutation SNP C A A A375_SKIN Phase_I g.chr9:21961153C>A uc003zpl.1 - c.371G>T c.(370-372)GGA>GTA p.G124V MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpk.1_Nonsense_Mutation_p.E69*|CDKN2A_uc003zpj.1_3'UTR|CDKN2A_uc010miu.1_Non-coding_Transcript NM_058195 NP_478102 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A isoform 4 59 ANK 2. OM_00374A F CDKN2A 1029 broad.mit.edu 36 9 21961153 21961153 + Missense_Mutation SNP C A A NCIH1975_LUNG Phase_I g.chr9:21961153C>A uc003zpl.1 - c.371G>T c.(370-372)GGA>GTA p.G124V MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpk.1_Nonsense_Mutation_p.E69*|CDKN2A_uc003zpj.1_3'UTR|CDKN2A_uc010miu.1_Non-coding_Transcript NM_058195 NP_478102 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A isoform 4 59 ANK 2. OM_00374A F CDKN2A 1029 broad.mit.edu 36 9 21961153 21961153 + Missense_Mutation SNP C A A SUIT2_PANCREAS Phase_I g.chr9:21961153C>A uc003zpl.1 - c.371G>T c.(370-372)GGA>GTA p.G124V MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpk.1_Nonsense_Mutation_p.E69*|CDKN2A_uc003zpj.1_3'UTR|CDKN2A_uc010miu.1_Non-coding_Transcript NM_058195 NP_478102 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A isoform 4 59 ANK 2. OM_00374A F CDKN2A 1029 broad.mit.edu 36 9 21961153 21961153 + Missense_Mutation SNP C A A CAL27_UPPER_AERODIGESTIVE_TRACT Phase_I g.chr9:21961153C>A uc003zpl.1 - c.371G>T c.(370-372)GGA>GTA p.G124V MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpk.1_Nonsense_Mutation_p.E69*|CDKN2A_uc003zpj.1_3'UTR|CDKN2A_uc010miu.1_Non-coding_Transcript NM_058195 NP_478102 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A isoform 4 59 ANK 2. OM_00374A F CDKN2A 1029 broad.mit.edu 36 9 21961153 21961153 + Missense_Mutation SNP C A A NCIH1339_LUNG Phase_I g.chr9:21961153C>A uc003zpl.1 - c.371G>T c.(370-372)GGA>GTA p.G124V MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpk.1_Nonsense_Mutation_p.E69*|CDKN2A_uc003zpj.1_3'UTR|CDKN2A_uc010miu.1_Non-coding_Transcript NM_058195 NP_478102 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A isoform 4 59 ANK 2. OM_00374A F CDKN2A 1029 broad.mit.edu 36 9 21961153 21961153 + Missense_Mutation SNP C A A CAL27_UPPER_AERODIGESTIVE_TRACT Phase_I g.chr9:21961153C>A uc003zpl.1 - c.371G>T c.(370-372)GGA>GTA p.G124V MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpk.1_Nonsense_Mutation_p.E69*|CDKN2A_uc003zpj.1_3'UTR|CDKN2A_uc010miu.1_Non-coding_Transcript NM_058195 NP_478102 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A isoform 4 59 ANK 2. OM_00374B R CDKN2A 1029 broad.mit.edu 36 9 21961153 21961153 + Missense_Mutation SNP C A A SUIT2_PANCREAS Phase_I g.chr9:21961153C>A uc003zpl.1 - c.371G>T c.(370-372)GGA>GTA p.G124V MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpk.1_Nonsense_Mutation_p.E69*|CDKN2A_uc003zpj.1_3'UTR|CDKN2A_uc010miu.1_Non-coding_Transcript NM_058195 NP_478102 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A isoform 4 59 ANK 2. OM_00374B R CDKN2A 1029 broad.mit.edu 36 9 21961111 21961111 + Missense_Mutation SNP G A A JHH2_LIVER Phase_I g.chr9:21961111G>A uc003zpl.1 - c.413C>T c.(412-414)GCA>GTA p.A138V MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpk.1_Missense_Mutation_p.H83Y|CDKN2A_uc003zpj.1_3'UTR|CDKN2A_uc010miu.1_Non-coding_Transcript NM_058195 NP_478102 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A isoform 4 Error:Variant_position_missing_in_P42771_after_alignment OM_00375A F CDKN2A 1029 broad.mit.edu 36 9 21961111 21961111 + Missense_Mutation SNP G A A SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE Phase_I g.chr9:21961111G>A uc003zpl.1 - c.413C>T c.(412-414)GCA>GTA p.A138V MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpk.1_Missense_Mutation_p.H83Y|CDKN2A_uc003zpj.1_3'UTR|CDKN2A_uc010miu.1_Non-coding_Transcript NM_058195 NP_478102 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A isoform 4 Error:Variant_position_missing_in_P42771_after_alignment OM_00375A F CDKN2A 1029 broad.mit.edu 36 9 21961111 21961111 + Missense_Mutation SNP G A A CALU3_LUNG Phase_I g.chr9:21961111G>A uc003zpl.1 - c.413C>T c.(412-414)GCA>GTA p.A138V MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpk.1_Missense_Mutation_p.H83Y|CDKN2A_uc003zpj.1_3'UTR|CDKN2A_uc010miu.1_Non-coding_Transcript NM_058195 NP_478102 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A isoform 4 Error:Variant_position_missing_in_P42771_after_alignment OM_00375A F CDKN2A 1029 broad.mit.edu 36 9 21961111 21961111 + Missense_Mutation SNP G A A HS944T_SKIN Phase_I g.chr9:21961111G>A uc003zpl.1 - c.413C>T c.(412-414)GCA>GTA p.A138V MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpk.1_Missense_Mutation_p.H83Y|CDKN2A_uc003zpj.1_3'UTR|CDKN2A_uc010miu.1_Non-coding_Transcript NM_058195 NP_478102 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A isoform 4 Error:Variant_position_missing_in_P42771_after_alignment OM_00375A F CDKN2A 1029 broad.mit.edu 36 9 21961111 21961111 + Missense_Mutation SNP G A A HS944T_SKIN Phase_I g.chr9:21961111G>A uc003zpl.1 - c.413C>T c.(412-414)GCA>GTA p.A138V MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpk.1_Missense_Mutation_p.H83Y|CDKN2A_uc003zpj.1_3'UTR|CDKN2A_uc010miu.1_Non-coding_Transcript NM_058195 NP_478102 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A isoform 4 Error:Variant_position_missing_in_P42771_after_alignment OM_00375B R CDKN2A 1029 broad.mit.edu 36 9 21961111 21961111 + Missense_Mutation SNP G A A OPM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE Phase_I g.chr9:21961111G>A uc003zpl.1 - c.413C>T c.(412-414)GCA>GTA p.A138V MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpk.1_Missense_Mutation_p.H83Y|CDKN2A_uc003zpj.1_3'UTR|CDKN2A_uc010miu.1_Non-coding_Transcript NM_058195 NP_478102 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A isoform 4 Error:Variant_position_missing_in_P42771_after_alignment OM_00375B R CDKN2A 1029 broad.mit.edu 36 9 21961111 21961111 + Missense_Mutation SNP G A A JHH2_LIVER Phase_I g.chr9:21961111G>A uc003zpl.1 - c.413C>T c.(412-414)GCA>GTA p.A138V MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpk.1_Missense_Mutation_p.H83Y|CDKN2A_uc003zpj.1_3'UTR|CDKN2A_uc010miu.1_Non-coding_Transcript NM_058195 NP_478102 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A isoform 4 Error:Variant_position_missing_in_P42771_after_alignment OM_00375B R CDKN2A 1029 broad.mit.edu 36 9 21961108 21961108 + Missense_Mutation SNP C A A rs11552822 by-cluster LK2_LUNG Phase_I g.chr9:21961108C>A uc003zpl.1 - c.416G>T c.(415-417)CGA>CTA p.R139L MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpk.1_Missense_Mutation_p.D84Y|CDKN2A_uc003zpj.1_3'UTR|CDKN2A_uc010miu.1_Non-coding_Transcript NM_058195 NP_478102 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A isoform 4 Error:Variant_position_missing_in_P42771_after_alignment OM_00376 F CDKN2A 1029 broad.mit.edu 36 9 21961108 21961108 + Missense_Mutation SNP C A A rs11552822 by-cluster DU145_PROSTATE Phase_I g.chr9:21961108C>A uc003zpl.1 - c.416G>T c.(415-417)CGA>CTA p.R139L MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpk.1_Missense_Mutation_p.D84Y|CDKN2A_uc003zpj.1_3'UTR|CDKN2A_uc010miu.1_Non-coding_Transcript NM_058195 NP_478102 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A isoform 4 Error:Variant_position_missing_in_P42771_after_alignment OM_00376 F CDKN2A 1029 broad.mit.edu 36 9 21961120 21961120 + Missense_Mutation SNP G A A HSC4_UPPER_AERODIGESTIVE_TRACT Phase_I g.chr9:21961120G>A uc003zpl.1 - c.404C>T c.(403-405)CCG>CTG p.P135L MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpk.1_Nonsense_Mutation_p.R80*|CDKN2A_uc003zpj.1_3'UTR|CDKN2A_uc010miu.1_Non-coding_Transcript NM_058195 NP_478102 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A isoform 4 Error:Variant_position_missing_in_P42771_after_alignment OM_00377 F CDKN2A 1029 broad.mit.edu 36 9 21961120 21961120 + Missense_Mutation SNP G A A MDST8_LARGE_INTESTINE Phase_I g.chr9:21961120G>A uc003zpl.1 - c.404C>T c.(403-405)CCG>CTG p.P135L MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpk.1_Nonsense_Mutation_p.R80*|CDKN2A_uc003zpj.1_3'UTR|CDKN2A_uc010miu.1_Non-coding_Transcript NM_058195 NP_478102 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A isoform 4 Error:Variant_position_missing_in_P42771_after_alignment OM_00377 F CDKN2A 1029 broad.mit.edu 36 9 21961017 21961017 + Silent SNP G A A SKMEL30_SKIN Phase_I g.chr9:21961017G>A uc003zpl.1 - c.507C>T c.(505-507)GCC>GCT p.A169A MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpk.1_Missense_Mutation_p.P114L|CDKN2A_uc003zpj.1_3'UTR|CDKN2A_uc010miu.1_Non-coding_Transcript NM_058195 NP_478102 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A isoform 4 Error:Variant_position_missing_in_P42771_after_alignment OM_00380 F CDKN2A 1029 broad.mit.edu 36 9 21961017 21961017 + Silent SNP G A A WM983B_SKIN Phase_I g.chr9:21961017G>A uc003zpl.1 - c.507C>T c.(505-507)GCC>GCT p.A169A MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpk.1_Missense_Mutation_p.P114L|CDKN2A_uc003zpj.1_3'UTR|CDKN2A_uc010miu.1_Non-coding_Transcript NM_058195 NP_478102 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A isoform 4 Error:Variant_position_missing_in_P42771_after_alignment OM_00380 F CDKN2A 1029 broad.mit.edu 36 9 21961120 21961121 + Missense_Mutation DNP GG AA AA MEWO_SKIN Phase_I g.chr9:21961120_21961121GG>AA uc003zpl.1 - c.403_404CC>TT c.(403-405)CCG>TTG p.P135L MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpk.1_Nonsense_Mutation_p.R80*|CDKN2A_uc003zpj.1_3'UTR|CDKN2A_uc010miu.1_Non-coding_Transcript NM_058195 NP_478102 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A isoform 4 Error:Variant_position_missing_in_P42771_after_alignment OM_00381 R MYC 4609 broad.mit.edu 36 8 128819821 128819821 + Missense_Mutation SNP C T T RAJI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE Phase_I g.chr8:128819821C>T uc003ysi.1 + c.176C>T c.(175-177)GCG>GTG p.A59V MYC_uc003ysh.1_Missense_Mutation_p.A44V NM_002467 NP_002458 P01106 MYC_HUMAN myc proto-oncogene protein 44 OM_00404 R MYC 4609 broad.mit.edu 36 8 128819821 128819821 + Missense_Mutation SNP C T T TOLEDO_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE Phase_I g.chr8:128819821C>T uc003ysi.1 + c.176C>T c.(175-177)GCG>GTG p.A59V MYC_uc003ysh.1_Missense_Mutation_p.A44V NM_002467 NP_002458 P01106 MYC_HUMAN myc proto-oncogene protein 44 OM_00404 R MYC 4609 broad.mit.edu 36 8 128819863 128819864 + Missense_Mutation DNP CC TT TT RAJI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE Phase_I g.chr8:128819863_128819864CC>TT uc003ysi.1 + c.218_219CC>TT c.(217-219)ACC>ATT p.T73I MYC_uc003ysh.1_Missense_Mutation_p.T58I NM_002467 NP_002458 P01106 MYC_HUMAN myc proto-oncogene protein 58 OM_00409 F CTNNB1 1499 broad.mit.edu 36 3 41241101 41241101 + Missense_Mutation SNP G A A rs28931588 unknown KE39_STOMACH Phase_I g.chr3:41241101G>A uc010hia.1 + c.94G>A c.(94-96)GAC>AAC p.D32N CTNNB1_uc003ckp.2_Missense_Mutation_p.D32N|CTNNB1_uc003ckq.2_Missense_Mutation_p.D32N|CTNNB1_uc003ckr.2_Missense_Mutation_p.D32N NM_001904 NP_001895 P35222 CTNB1_HUMAN catenin (cadherin-associated protein), beta 1, 32 OM_00416 R CTNNB1 1499 broad.mit.edu 36 3 41241102 41241102 + Missense_Mutation SNP A T T HEC6_ENDOMETRIUM Phase_I g.chr3:41241102A>T uc010hia.1 + c.95A>T c.(94-96)GAC>GTC p.D32V CTNNB1_uc003ckp.2_Missense_Mutation_p.D32V|CTNNB1_uc003ckq.2_Missense_Mutation_p.D32V|CTNNB1_uc003ckr.2_Missense_Mutation_p.D32V NM_001904 NP_001895 P35222 CTNB1_HUMAN catenin (cadherin-associated protein), beta 1, 32 OM_00420 R CTNNB1 1499 broad.mit.edu 36 3 41241102 41241102 + Missense_Mutation SNP A T T HEC265_ENDOMETRIUM Phase_I g.chr3:41241102A>T uc010hia.1 + c.95A>T c.(94-96)GAC>GTC p.D32V CTNNB1_uc003ckp.2_Missense_Mutation_p.D32V|CTNNB1_uc003ckq.2_Missense_Mutation_p.D32V|CTNNB1_uc003ckr.2_Missense_Mutation_p.D32V NM_001904 NP_001895 P35222 CTNB1_HUMAN catenin (cadherin-associated protein), beta 1, 32 OM_00420 R CTNNB1 1499 broad.mit.edu 36 3 41241105 41241105 + Missense_Mutation SNP C G G SKMEL1_SKIN Phase_I g.chr3:41241105C>G uc010hia.1 + c.98C>G c.(97-99)TCT>TGT p.S33C CTNNB1_uc003ckp.2_Missense_Mutation_p.S33C|CTNNB1_uc003ckq.2_Missense_Mutation_p.S33C|CTNNB1_uc003ckr.2_Missense_Mutation_p.S33C NM_001904 NP_001895 P35222 CTNB1_HUMAN catenin (cadherin-associated protein), beta 1, 33 OM_00423B R CTNNB1 1499 broad.mit.edu 36 3 41241105 41241105 + Missense_Mutation SNP C T T SW1573_LUNG Phase_I g.chr3:41241105C>T uc010hia.1 + c.98C>T c.(97-99)TCT>TTT p.S33F CTNNB1_uc003ckp.2_Missense_Mutation_p.S33F|CTNNB1_uc003ckq.2_Missense_Mutation_p.S33F|CTNNB1_uc003ckr.2_Missense_Mutation_p.S33F NM_001904 NP_001895 P35222 CTNB1_HUMAN catenin (cadherin-associated protein), beta 1, 33 OM_00424A F CTNNB1 1499 broad.mit.edu 36 3 41241105 41241105 + Missense_Mutation SNP C T T SW1573_LUNG Phase_I g.chr3:41241105C>T uc010hia.1 + c.98C>T c.(97-99)TCT>TTT p.S33F CTNNB1_uc003ckp.2_Missense_Mutation_p.S33F|CTNNB1_uc003ckq.2_Missense_Mutation_p.S33F|CTNNB1_uc003ckr.2_Missense_Mutation_p.S33F NM_001904 NP_001895 P35222 CTNB1_HUMAN catenin (cadherin-associated protein), beta 1, 33 OM_00424B R CTNNB1 1499 broad.mit.edu 36 3 41241105 41241105 + Missense_Mutation SNP C A A SW48_LARGE_INTESTINE Phase_I g.chr3:41241105C>A uc010hia.1 + c.98C>A c.(97-99)TCT>TAT p.S33Y CTNNB1_uc003ckp.2_Missense_Mutation_p.S33Y|CTNNB1_uc003ckq.2_Missense_Mutation_p.S33Y|CTNNB1_uc003ckr.2_Missense_Mutation_p.S33Y NM_001904 NP_001895 P35222 CTNB1_HUMAN catenin (cadherin-associated protein), beta 1, 33 OM_00425A F CTNNB1 1499 broad.mit.edu 36 3 41241105 41241105 + Missense_Mutation SNP C A A SW48_LARGE_INTESTINE Phase_I g.chr3:41241105C>A uc010hia.1 + c.98C>A c.(97-99)TCT>TAT p.S33Y CTNNB1_uc003ckp.2_Missense_Mutation_p.S33Y|CTNNB1_uc003ckq.2_Missense_Mutation_p.S33Y|CTNNB1_uc003ckr.2_Missense_Mutation_p.S33Y NM_001904 NP_001895 P35222 CTNB1_HUMAN catenin (cadherin-associated protein), beta 1, 33 OM_00425B R CTNNB1 1499 broad.mit.edu 36 3 41241108 41241108 + Missense_Mutation SNP G T T rs28931589 unknown SNU719_STOMACH Phase_I g.chr3:41241108G>T uc010hia.1 + c.101G>T c.(100-102)GGA>GTA p.G34V CTNNB1_uc003ckp.2_Missense_Mutation_p.G34V|CTNNB1_uc003ckq.2_Missense_Mutation_p.G34V|CTNNB1_uc003ckr.2_Missense_Mutation_p.G34V NM_001904 NP_001895 P35222 CTNB1_HUMAN catenin (cadherin-associated protein), beta 1, 34 OM_00428A F CTNNB1 1499 broad.mit.edu 36 3 41241108 41241108 + Missense_Mutation SNP G T T rs28931589 unknown HUH6_LIVER Phase_I g.chr3:41241108G>T uc010hia.1 + c.101G>T c.(100-102)GGA>GTA p.G34V CTNNB1_uc003ckp.2_Missense_Mutation_p.G34V|CTNNB1_uc003ckq.2_Missense_Mutation_p.G34V|CTNNB1_uc003ckr.2_Missense_Mutation_p.G34V NM_001904 NP_001895 P35222 CTNB1_HUMAN catenin (cadherin-associated protein), beta 1, 34 OM_00428A F CTNNB1 1499 broad.mit.edu 36 3 41241108 41241108 + Missense_Mutation SNP G A A rs28931589 unknown AGS_STOMACH Phase_I g.chr3:41241108G>A uc010hia.1 + c.101G>A c.(100-102)GGA>GAA p.G34E CTNNB1_uc003ckp.2_Missense_Mutation_p.G34E|CTNNB1_uc003ckq.2_Missense_Mutation_p.G34E|CTNNB1_uc003ckr.2_Missense_Mutation_p.G34E NM_001904 NP_001895 P35222 CTNB1_HUMAN catenin (cadherin-associated protein), beta 1, 34 OM_00429 R CTNNB1 1499 broad.mit.edu 36 3 41241116 41241116 + Missense_Mutation SNP T G G HS571T_OVARY Phase_I g.chr3:41241116T>G uc010hia.1 + c.109T>G c.(109-111)TCT>GCT p.S37A CTNNB1_uc003ckp.2_Missense_Mutation_p.S37A|CTNNB1_uc003ckq.2_Missense_Mutation_p.S37A|CTNNB1_uc003ckr.2_Missense_Mutation_p.S37A NM_001904 NP_001895 P35222 CTNB1_HUMAN catenin (cadherin-associated protein), beta 1, 37 OM_00433 F CTNNB1 1499 broad.mit.edu 36 3 41241116 41241116 + Missense_Mutation SNP T G G TOV112D_OVARY Phase_I g.chr3:41241116T>G uc010hia.1 + c.109T>G c.(109-111)TCT>GCT p.S37A CTNNB1_uc003ckp.2_Missense_Mutation_p.S37A|CTNNB1_uc003ckq.2_Missense_Mutation_p.S37A|CTNNB1_uc003ckr.2_Missense_Mutation_p.S37A NM_001904 NP_001895 P35222 CTNB1_HUMAN catenin (cadherin-associated protein), beta 1, 37 OM_00433 F CTNNB1 1499 broad.mit.edu 36 3 41241116 41241116 + Missense_Mutation SNP T C C SNGM_ENDOMETRIUM Phase_I g.chr3:41241116T>C uc010hia.1 + c.109T>C c.(109-111)TCT>CCT p.S37P CTNNB1_uc003ckp.2_Missense_Mutation_p.S37P|CTNNB1_uc003ckq.2_Missense_Mutation_p.S37P|CTNNB1_uc003ckr.2_Missense_Mutation_p.S37P NM_001904 NP_001895 P35222 CTNB1_HUMAN catenin (cadherin-associated protein), beta 1, 37 OM_00434 F CTNNB1 1499 broad.mit.edu 36 3 41241116 41241116 + Missense_Mutation SNP T C C HEC108_ENDOMETRIUM Phase_I g.chr3:41241116T>C uc010hia.1 + c.109T>C c.(109-111)TCT>CCT p.S37P CTNNB1_uc003ckp.2_Missense_Mutation_p.S37P|CTNNB1_uc003ckq.2_Missense_Mutation_p.S37P|CTNNB1_uc003ckr.2_Missense_Mutation_p.S37P NM_001904 NP_001895 P35222 CTNB1_HUMAN catenin (cadherin-associated protein), beta 1, 37 OM_00434 F CTNNB1 1499 broad.mit.edu 36 3 41241117 41241117 + Missense_Mutation SNP C T T HUTU80_SMALL_INTESTINE Phase_I g.chr3:41241117C>T uc010hia.1 + c.110C>T c.(109-111)TCT>TTT p.S37F CTNNB1_uc003ckp.2_Missense_Mutation_p.S37F|CTNNB1_uc003ckq.2_Missense_Mutation_p.S37F|CTNNB1_uc003ckr.2_Missense_Mutation_p.S37F NM_001904 NP_001895 P35222 CTNB1_HUMAN catenin (cadherin-associated protein), beta 1, 37 OM_00435 F CTNNB1 1499 broad.mit.edu 36 3 41241117 41241117 + Missense_Mutation SNP C T T AZ521_STOMACH Phase_I g.chr3:41241117C>T uc010hia.1 + c.110C>T c.(109-111)TCT>TTT p.S37F CTNNB1_uc003ckp.2_Missense_Mutation_p.S37F|CTNNB1_uc003ckq.2_Missense_Mutation_p.S37F|CTNNB1_uc003ckr.2_Missense_Mutation_p.S37F NM_001904 NP_001895 P35222 CTNB1_HUMAN catenin (cadherin-associated protein), beta 1, 37 OM_00435 F CTNNB1 1499 broad.mit.edu 36 3 41241117 41241117 + Missense_Mutation SNP C G G JHUEM2_ENDOMETRIUM Phase_I g.chr3:41241117C>G uc010hia.1 + c.110C>G c.(109-111)TCT>TGT p.S37C CTNNB1_uc003ckp.2_Missense_Mutation_p.S37C|CTNNB1_uc003ckq.2_Missense_Mutation_p.S37C|CTNNB1_uc003ckr.2_Missense_Mutation_p.S37C NM_001904 NP_001895 P35222 CTNB1_HUMAN catenin (cadherin-associated protein), beta 1, 37 OM_00436A F CTNNB1 1499 broad.mit.edu 36 3 41241117 41241117 + Missense_Mutation SNP C G G SNU398_LIVER Phase_I g.chr3:41241117C>G uc010hia.1 + c.110C>G c.(109-111)TCT>TGT p.S37C CTNNB1_uc003ckp.2_Missense_Mutation_p.S37C|CTNNB1_uc003ckq.2_Missense_Mutation_p.S37C|CTNNB1_uc003ckr.2_Missense_Mutation_p.S37C NM_001904 NP_001895 P35222 CTNB1_HUMAN catenin (cadherin-associated protein), beta 1, 37 OM_00436A F CTNNB1 1499 broad.mit.edu 36 3 41241128 41241128 + Missense_Mutation SNP A G G SNU407_LARGE_INTESTINE Phase_I g.chr3:41241128A>G uc010hia.1 + c.121A>G c.(121-123)ACC>GCC p.T41A CTNNB1_uc003ckp.2_Missense_Mutation_p.T41A|CTNNB1_uc003ckq.2_Missense_Mutation_p.T41A|CTNNB1_uc003ckr.2_Missense_Mutation_p.T41A NM_001904 NP_001895 P35222 CTNB1_HUMAN catenin (cadherin-associated protein), beta 1, 41 OM_00440A F CTNNB1 1499 broad.mit.edu 36 3 41241128 41241128 + Missense_Mutation SNP A G G CCK81_LARGE_INTESTINE Phase_I g.chr3:41241128A>G uc010hia.1 + c.121A>G c.(121-123)ACC>GCC p.T41A CTNNB1_uc003ckp.2_Missense_Mutation_p.T41A|CTNNB1_uc003ckq.2_Missense_Mutation_p.T41A|CTNNB1_uc003ckr.2_Missense_Mutation_p.T41A NM_001904 NP_001895 P35222 CTNB1_HUMAN catenin (cadherin-associated protein), beta 1, 41 OM_00440A F CTNNB1 1499 broad.mit.edu 36 3 41241140 41241140 + Missense_Mutation SNP T C C SNU869_BILIARY_TRACT Phase_I g.chr3:41241140T>C uc010hia.1 + c.133T>C c.(133-135)TCT>CCT p.S45P CTNNB1_uc003ckp.2_Missense_Mutation_p.S45P|CTNNB1_uc003ckq.2_Missense_Mutation_p.S45P|CTNNB1_uc003ckr.2_Missense_Mutation_p.S45P NM_001904 NP_001895 P35222 CTNB1_HUMAN catenin (cadherin-associated protein), beta 1, 45 OM_00451B R CTNNB1 1499 broad.mit.edu 36 3 41241141 41241141 + Missense_Mutation SNP C T T HCC15_LUNG Phase_I g.chr3:41241141C>T uc010hia.1 + c.134C>T c.(133-135)TCT>TTT p.S45F CTNNB1_uc003ckp.2_Missense_Mutation_p.S45F|CTNNB1_uc003ckq.2_Missense_Mutation_p.S45F|CTNNB1_uc003ckr.2_Missense_Mutation_p.S45F NM_001904 NP_001895 P35222 CTNB1_HUMAN catenin (cadherin-associated protein), beta 1, 45 OM_00453A F CTNNB1 1499 broad.mit.edu 36 3 41241141 41241141 + Missense_Mutation SNP C T T LS180_LARGE_INTESTINE Phase_I g.chr3:41241141C>T uc010hia.1 + c.134C>T c.(133-135)TCT>TTT p.S45F CTNNB1_uc003ckp.2_Missense_Mutation_p.S45F|CTNNB1_uc003ckq.2_Missense_Mutation_p.S45F|CTNNB1_uc003ckr.2_Missense_Mutation_p.S45F NM_001904 NP_001895 P35222 CTNB1_HUMAN catenin (cadherin-associated protein), beta 1, 45 OM_00453A F EGFR 1956 broad.mit.edu 36 7 55209960 55209960 + Missense_Mutation SNP G A A HCC827_LUNG Phase_I g.chr7:55209960G>A uc003tqk.1 + c.2236G>A c.(2236-2238)GAA>AAA p.E746K EGFR_uc010kzg.1_Missense_Mutation_p.E701K NM_005228 NP_005219 P00533 EGFR_HUMAN epidermal growth factor receptor isoform a 746 Cytoplasmic (Potential).|Protein kinase. OM_00497 F EGFR 1956 broad.mit.edu 36 7 55209981 55209981 + Missense_Mutation SNP C T T SKMEL28_SKIN Phase_I g.chr7:55209981C>T uc003tqk.1 + c.2257C>T c.(2257-2259)CCG>TCG p.P753S EGFR_uc010kzg.1_Missense_Mutation_p.P708S NM_005228 NP_005219 P00533 EGFR_HUMAN epidermal growth factor receptor isoform a 753 Cytoplasmic (Potential).|Protein kinase. OM_00502 R EGFR 1956 broad.mit.edu 36 7 55209963 55209982 + In_Frame_Del DEL TTAAGAGAAGCAACATCTCC CA CA HCC4006_LUNG Phase_I g.chr7:55209963_55209982TTAAGAGAAGCAACATCTCC>CA uc003tqk.1 + c.2239_2258TTAAGAGAAGCAACATCTCC>CA c.(2239-2259)TTAAGAGAAGCAACATCTCCG>CAG p.747_753LREATSP>Q EGFR_uc010kzg.1_In_Frame_Del_p.702_708LREATSP>Q NM_005228 NP_005219 P00533 EGFR_HUMAN epidermal growth factor receptor isoform a 747_753 Cytoplasmic (Potential).|Protein kinase. OM_00571 R ERBB2 2064 broad.mit.edu 36 17 35133746 35133746 + Missense_Mutation SNP T C C CW2_LARGE_INTESTINE Phase_I g.chr17:35133746T>C uc002hso.1 + c.2264T>C c.(2263-2265)TTG>TCG p.L755S ERBB2_uc002hsm.1_Missense_Mutation_p.L725S|ERBB2_uc002hsp.1_Missense_Mutation_p.L558S|ERBB2_uc010cwb.1_Missense_Mutation_p.L755S NM_004448 NP_001005862 P04626 ERBB2_HUMAN erbB-2 isoform a 755 Cytoplasmic (Potential).|Protein kinase. OM_00608 F ERBB2 2064 broad.mit.edu 36 17 35133746 35133746 + Missense_Mutation SNP T C C ECC10_STOMACH Phase_I g.chr17:35133746T>C uc002hso.1 + c.2264T>C c.(2263-2265)TTG>TCG p.L755S ERBB2_uc002hsm.1_Missense_Mutation_p.L725S|ERBB2_uc002hsp.1_Missense_Mutation_p.L558S|ERBB2_uc010cwb.1_Missense_Mutation_p.L755S NM_004448 NP_001005862 P04626 ERBB2_HUMAN erbB-2 isoform a 755 Cytoplasmic (Potential).|Protein kinase. OM_00608 F ERBB2 2064 broad.mit.edu 36 17 35133746 35133746 + Missense_Mutation SNP T C C LN229_CENTRAL_NERVOUS_SYSTEM Phase_I g.chr17:35133746T>C uc002hso.1 + c.2264T>C c.(2263-2265)TTG>TCG p.L755S ERBB2_uc002hsm.1_Missense_Mutation_p.L725S|ERBB2_uc002hsp.1_Missense_Mutation_p.L558S|ERBB2_uc010cwb.1_Missense_Mutation_p.L755S NM_004448 NP_001005862 P04626 ERBB2_HUMAN erbB-2 isoform a 755 Cytoplasmic (Potential).|Protein kinase. OM_00608 F FGFR2 2263 broad.mit.edu 36 10 123269667 123269667 + Missense_Mutation SNP G C C MFE280_ENDOMETRIUM Phase_I g.chr10:123269667G>C uc009xzo.1 - c.755C>G c.(754-756)TCG>TGG p.S252W FGFR2_uc009xzp.1_Missense_Mutation_p.S252W|FGFR2_uc009xzq.1_Missense_Mutation_p.S271W|FGFR2_uc001lfj.2_Missense_Mutation_p.S156W|FGFR2_uc001lfm.1_Missense_Mutation_p.S182W|FGFR2_uc009xzr.1_Intron|FGFR2_uc009xzs.1_Missense_Mutation_p.S156W|FGFR2_uc001lfn.2_Non-coding_Transcript|FGFR2_uc009xzt.1_Missense_Mutation_p.S182W|FGFR2_uc001lfo.1_Missense_Mutation_p.S271W|FGFR2_uc001lfg.2_5'Flank NM_022970 NP_075259 P21802 FGFR2_HUMAN fibroblast growth factor receptor 2 isoform 2 252 Extracellular (Potential). OM_00634 R JAK3 3718 broad.mit.edu 36 19 17809009 17809009 + Missense_Mutation SNP G A A CMK115_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE Phase_I g.chr19:17809009G>A uc002nhn.2 - c.1715C>T c.(1714-1716)GCA>GTA p.A572V JAK3_uc010ebh.1_Non-coding_Transcript|JAK3_uc002nho.2_Missense_Mutation_p.A572V NM_000215 NP_000206 P52333 JAK3_HUMAN Janus kinase 3 572 Protein kinase 1. OM_00714 F JAK3 3718 broad.mit.edu 36 19 17809009 17809009 + Missense_Mutation SNP G A A CMK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE Phase_I g.chr19:17809009G>A uc002nhn.2 - c.1715C>T c.(1714-1716)GCA>GTA p.A572V JAK3_uc010ebh.1_Non-coding_Transcript|JAK3_uc002nho.2_Missense_Mutation_p.A572V NM_000215 NP_000206 P52333 JAK3_HUMAN Janus kinase 3 572 Protein kinase 1. OM_00714 F JAK3 3718 broad.mit.edu 36 19 17809009 17809009 + Missense_Mutation SNP G A A CMK86_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE Phase_I g.chr19:17809009G>A uc002nhn.2 - c.1715C>T c.(1714-1716)GCA>GTA p.A572V JAK3_uc010ebh.1_Non-coding_Transcript|JAK3_uc002nho.2_Missense_Mutation_p.A572V NM_000215 NP_000206 P52333 JAK3_HUMAN Janus kinase 3 572 Protein kinase 1. OM_00714 F PTEN 5728 broad.mit.edu 36 10 89682884 89682884 + Nonsense_Mutation SNP C T T FTC133_THYROID Phase_I g.chr10:89682884C>T uc001kfb.1 + c.388C>T c.(388-390)CGA>TGA p.R130* NM_000314 NP_000305 P60484 PTEN_HUMAN phosphatase and tensin homolog 130 Phosphatase tensin-type. OM_00836 R PTEN 5728 broad.mit.edu 36 10 89682884 89682884 + Nonsense_Mutation SNP C T T FTC238_THYROID Phase_I g.chr10:89682884C>T uc001kfb.1 + c.388C>T c.(388-390)CGA>TGA p.R130* NM_000314 NP_000305 P60484 PTEN_HUMAN phosphatase and tensin homolog 130 Phosphatase tensin-type. OM_00836 R PTEN 5728 broad.mit.edu 36 10 89682884 89682884 + Nonsense_Mutation SNP C T T COLO704_OVARY Phase_I g.chr10:89682884C>T uc001kfb.1 + c.388C>T c.(388-390)CGA>TGA p.R130* NM_000314 NP_000305 P60484 PTEN_HUMAN phosphatase and tensin homolog 130 Phosphatase tensin-type. OM_00836 R PTEN 5728 broad.mit.edu 36 10 89682884 89682884 + Missense_Mutation SNP C G G KMBC2_URINARY_TRACT Phase_I g.chr10:89682884C>G uc001kfb.1 + c.388C>G c.(388-390)CGA>GGA p.R130G NM_000314 NP_000305 P60484 PTEN_HUMAN phosphatase and tensin homolog 130 Phosphatase tensin-type. OM_00837 F PTEN 5728 broad.mit.edu 36 10 89682884 89682884 + Missense_Mutation SNP C G G OV56_OVARY Phase_I g.chr10:89682884C>G uc001kfb.1 + c.388C>G c.(388-390)CGA>GGA p.R130G NM_000314 NP_000305 P60484 PTEN_HUMAN phosphatase and tensin homolog 130 Phosphatase tensin-type. OM_00837 F PTEN 5728 broad.mit.edu 36 10 89682885 89682885 + Missense_Mutation SNP G A A JHUEM1_ENDOMETRIUM Phase_I g.chr10:89682885G>A uc001kfb.1 + c.389G>A c.(388-390)CGA>CAA p.R130Q NM_000314 NP_000305 P60484 PTEN_HUMAN phosphatase and tensin homolog 130 Phosphatase tensin-type. OM_00838 R PTEN 5728 broad.mit.edu 36 10 89682885 89682885 + Missense_Mutation SNP G A A SNU81_LARGE_INTESTINE Phase_I g.chr10:89682885G>A uc001kfb.1 + c.389G>A c.(388-390)CGA>CAA p.R130Q NM_000314 NP_000305 P60484 PTEN_HUMAN phosphatase and tensin homolog 130 Phosphatase tensin-type. OM_00838 R PTEN 5728 broad.mit.edu 36 10 89682885 89682885 + Missense_Mutation SNP G A A 639V_URINARY_TRACT Phase_I g.chr10:89682885G>A uc001kfb.1 + c.389G>A c.(388-390)CGA>CAA p.R130Q NM_000314 NP_000305 P60484 PTEN_HUMAN phosphatase and tensin homolog 130 Phosphatase tensin-type. OM_00838 R PTEN 5728 broad.mit.edu 36 10 89682885 89682885 + Missense_Mutation SNP G A A MFE296_ENDOMETRIUM Phase_I g.chr10:89682885G>A uc001kfb.1 + c.389G>A c.(388-390)CGA>CAA p.R130Q NM_000314 NP_000305 P60484 PTEN_HUMAN phosphatase and tensin homolog 130 Phosphatase tensin-type. OM_00838 R PTEN 5728 broad.mit.edu 36 10 89682885 89682885 + Missense_Mutation SNP G A A MDAPCA2B_PROSTATE Phase_I g.chr10:89682885G>A uc001kfb.1 + c.389G>A c.(388-390)CGA>CAA p.R130Q NM_000314 NP_000305 P60484 PTEN_HUMAN phosphatase and tensin homolog 130 Phosphatase tensin-type. OM_00838 R PTEN 5728 broad.mit.edu 36 10 89701879 89701879 + Missense_Mutation SNP C T T REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE Phase_I g.chr10:89701879C>T uc001kfb.1 + c.517C>T c.(517-519)CGC>TGC p.R173C NM_000314 NP_000305 P60484 PTEN_HUMAN phosphatase and tensin homolog 173 Phosphatase tensin-type. OM_00839 F PTEN 5728 broad.mit.edu 36 10 89701879 89701879 + Missense_Mutation SNP C T T 639V_URINARY_TRACT Phase_I g.chr10:89701879C>T uc001kfb.1 + c.517C>T c.(517-519)CGC>TGC p.R173C NM_000314 NP_000305 P60484 PTEN_HUMAN phosphatase and tensin homolog 173 Phosphatase tensin-type. OM_00839 F PTEN 5728 broad.mit.edu 36 10 89701880 89701880 + Missense_Mutation SNP G A A RL952_ENDOMETRIUM Phase_I g.chr10:89701880G>A uc001kfb.1 + c.518G>A c.(517-519)CGC>CAC p.R173H NM_000314 NP_000305 P60484 PTEN_HUMAN phosphatase and tensin homolog 173 Phosphatase tensin-type. OM_00840 F PTEN 5728 broad.mit.edu 36 10 89707652 89707652 + Nonsense_Mutation SNP C T T SW1783_CENTRAL_NERVOUS_SYSTEM Phase_I g.chr10:89707652C>T uc001kfb.1 + c.697C>T c.(697-699)CGA>TGA p.R233* NM_000314 NP_000305 P60484 PTEN_HUMAN phosphatase and tensin homolog 233 C2 tensin-type. OM_00841 F PTEN 5728 broad.mit.edu 36 10 89707652 89707652 + Nonsense_Mutation SNP C T T JHUEM1_ENDOMETRIUM Phase_I g.chr10:89707652C>T uc001kfb.1 + c.697C>T c.(697-699)CGA>TGA p.R233* NM_000314 NP_000305 P60484 PTEN_HUMAN phosphatase and tensin homolog 233 C2 tensin-type. OM_00841 F PTEN 5728 broad.mit.edu 36 10 89707652 89707652 + Nonsense_Mutation SNP C T T SF295_CENTRAL_NERVOUS_SYSTEM Phase_I g.chr10:89707652C>T uc001kfb.1 + c.697C>T c.(697-699)CGA>TGA p.R233* NM_000314 NP_000305 P60484 PTEN_HUMAN phosphatase and tensin homolog 233 C2 tensin-type. OM_00841 F PTEN 5728 broad.mit.edu 36 10 89707652 89707652 + Nonsense_Mutation SNP C T T HEC59_ENDOMETRIUM Phase_I g.chr10:89707652C>T uc001kfb.1 + c.697C>T c.(697-699)CGA>TGA p.R233* NM_000314 NP_000305 P60484 PTEN_HUMAN phosphatase and tensin homolog 233 C2 tensin-type. OM_00841 F PTEN 5728 broad.mit.edu 36 10 89707652 89707652 + Nonsense_Mutation SNP C T T NCIH1155_LUNG Phase_I g.chr10:89707652C>T uc001kfb.1 + c.697C>T c.(697-699)CGA>TGA p.R233* NM_000314 NP_000305 P60484 PTEN_HUMAN phosphatase and tensin homolog 233 C2 tensin-type. OM_00841 F PTEN 5728 broad.mit.edu 36 10 89710832 89710832 + Nonsense_Mutation SNP C T T SNU1040_LARGE_INTESTINE Phase_I g.chr10:89710832C>T uc001kfb.1 + c.1003C>T c.(1003-1005)CGA>TGA p.R335* NM_000314 NP_000305 P60484 PTEN_HUMAN phosphatase and tensin homolog 335 C2 tensin-type. OM_00842 F PTEN 5728 broad.mit.edu 36 10 89710791 89710792 + Frame_Shift_Ins INS - A A SKUT1_SOFT_TISSUE Phase_I g.chr10:89710791_89710792insA uc001kfb.1 + c.962_963insA c.(961-963)ACAfs p.T321fs NM_000314 NP_000305 P60484 PTEN_HUMAN phosphatase and tensin homolog 321 C2 tensin-type. OM_00844 R PTEN 5728 broad.mit.edu 36 10 89710791 89710792 + Frame_Shift_Ins INS - A A RL952_ENDOMETRIUM Phase_I g.chr10:89710791_89710792insA uc001kfb.1 + c.962_963insA c.(961-963)ACAfs p.T321fs NM_000314 NP_000305 P60484 PTEN_HUMAN phosphatase and tensin homolog 321 C2 tensin-type. OM_00844 R PTEN 5728 broad.mit.edu 36 10 89710791 89710792 + Frame_Shift_Ins INS - A A MFE319_ENDOMETRIUM Phase_I g.chr10:89710791_89710792insA uc001kfb.1 + c.962_963insA c.(961-963)ACAfs p.T321fs NM_000314 NP_000305 P60484 PTEN_HUMAN phosphatase and tensin homolog 321 C2 tensin-type. OM_00844 R PTEN 5728 broad.mit.edu 36 10 89710797 89710797 + Frame_Shift_Del DEL A - - RL952_ENDOMETRIUM Phase_I g.chr10:89710797_89710797delA uc001kfb.1 + c.968_968delA c.(967-969)AATfs p.N323fs NM_000314 NP_000305 P60484 PTEN_HUMAN phosphatase and tensin homolog 323 C2 tensin-type. OM_00845 R PTEN 5728 broad.mit.edu 36 10 89710797 89710797 + Frame_Shift_Del DEL A - - MFE296_ENDOMETRIUM Phase_I g.chr10:89710797_89710797delA uc001kfb.1 + c.968_968delA c.(967-969)AATfs p.N323fs NM_000314 NP_000305 P60484 PTEN_HUMAN phosphatase and tensin homolog 323 C2 tensin-type. OM_00845 R RB1 5925 broad.mit.edu 36 13 47839649 47839649 + Nonsense_Mutation SNP C T T ISHIKAWAHERAKLIO02ER_ENDOMETRIUM Phase_I g.chr13:47839649C>T uc001vcb.1 + c.958C>T c.(958-960)CGA>TGA p.R320* RB1_uc010act.1_Nonsense_Mutation_p.R21* NM_000321 NP_000312 P06400 RB_HUMAN retinoblastoma 1 320 OM_00864A F RB1 5925 broad.mit.edu 36 13 47839649 47839649 + Nonsense_Mutation SNP C T T GMS10_CENTRAL_NERVOUS_SYSTEM Phase_I g.chr13:47839649C>T uc001vcb.1 + c.958C>T c.(958-960)CGA>TGA p.R320* RB1_uc010act.1_Nonsense_Mutation_p.R21* NM_000321 NP_000312 P06400 RB_HUMAN retinoblastoma 1 320 OM_00864A F RB1 5925 broad.mit.edu 36 13 47839649 47839649 + Nonsense_Mutation SNP C T T FTC238_THYROID Phase_I g.chr13:47839649C>T uc001vcb.1 + c.958C>T c.(958-960)CGA>TGA p.R320* RB1_uc010act.1_Nonsense_Mutation_p.R21* NM_000321 NP_000312 P06400 RB_HUMAN retinoblastoma 1 320 OM_00864A F RB1 5925 broad.mit.edu 36 13 47925169 47925169 + Nonsense_Mutation SNP C T T SW1783_CENTRAL_NERVOUS_SYSTEM Phase_I g.chr13:47925169C>T uc001vcb.1 + c.1735C>T c.(1735-1737)CGA>TGA p.R579* NM_000321 NP_000312 P06400 RB_HUMAN retinoblastoma 1 579 Domain A.|Pocket; binds T and E1A. OM_00868 R RB1 5925 broad.mit.edu 36 13 47935878 47935878 + Missense_Mutation SNP G T T NCIH209_LUNG Phase_I g.chr13:47935878G>T uc001vcb.1 + c.2117G>T c.(2116-2118)TGT>TTT p.C706F NM_000321 NP_000312 P06400 RB_HUMAN retinoblastoma 1 706 Pocket; binds T and E1A.|Domain B. OM_00870 R RB1 5925 broad.mit.edu 36 13 47937165 47937165 + Nonsense_Mutation SNP G T T NCIH69_LUNG Phase_I g.chr13:47937165G>T uc001vcb.1 + c.2242G>T c.(2242-2244)GAG>TAG p.E748* NM_000321 NP_000312 P06400 RB_HUMAN retinoblastoma 1 748 Pocket; binds T and E1A.|Domain B. OM_00871 F STK11 6794 broad.mit.edu 36 19 1158021 1158021 + Nonsense_Mutation SNP C T T A549_LUNG Phase_I g.chr19:1158021C>T uc002lrl.1 + c.109C>T c.(109-111)CAG>TAG p.Q37* NM_000455 NP_000446 Q15831 STK11_HUMAN serine/threonine protein kinase 11 37 OM_00921 R STK11 6794 broad.mit.edu 36 19 1158021 1158021 + Nonsense_Mutation SNP C T T NCIH460_LUNG Phase_I g.chr19:1158021C>T uc002lrl.1 + c.109C>T c.(109-111)CAG>TAG p.Q37* NM_000455 NP_000446 Q15831 STK11_HUMAN serine/threonine protein kinase 11 37 OM_00921 R STK11 6794 broad.mit.edu 36 19 1174059 1174059 + Nonsense_Mutation SNP G A A NCIH23_LUNG Phase_I g.chr19:1174059G>A uc002lrl.1 + c.996G>A c.(994-996)TGG>TGA p.W332* NM_000455 NP_000446 Q15831 STK11_HUMAN serine/threonine protein kinase 11 332 OM_00924 R STK11 6794 broad.mit.edu 36 19 1158077 1158077 + Frame_Shift_Del DEL G - - T3M10_LUNG Phase_I g.chr19:1158077_1158077delG uc002lrl.1 + c.165_165delG c.(163-165)CTGfs p.L55fs NM_000455 NP_000446 Q15831 STK11_HUMAN serine/threonine protein kinase 11 55 ATP (By similarity).|Protein kinase. OM_00925 R STK11 6794 broad.mit.edu 36 19 1158077 1158077 + Frame_Shift_Del DEL G - - NCIH1395_LUNG Phase_I g.chr19:1158077_1158077delG uc002lrl.1 + c.165_165delG c.(163-165)CTGfs p.L55fs NM_000455 NP_000446 Q15831 STK11_HUMAN serine/threonine protein kinase 11 55 ATP (By similarity).|Protein kinase. OM_00925 R STK11 6794 broad.mit.edu 36 19 1172319 1172319 + Frame_Shift_Del DEL C - - 2313287_STOMACH Phase_I g.chr19:1172319_1172319delC uc002lrl.1 + c.842_842delC c.(841-843)CCGfs p.P281fs NM_000455 NP_000446 Q15831 STK11_HUMAN serine/threonine protein kinase 11 281 Protein kinase. OM_00931 F STK11 6794 broad.mit.edu 36 19 1172319 1172319 + Frame_Shift_Del DEL C - - SNU324_PANCREAS Phase_I g.chr19:1172319_1172319delC uc002lrl.1 + c.842_842delC c.(841-843)CCGfs p.P281fs NM_000455 NP_000446 Q15831 STK11_HUMAN serine/threonine protein kinase 11 281 Protein kinase. OM_00931 F STK11 6794 broad.mit.edu 36 19 1172319 1172319 + Frame_Shift_Del DEL C - - TE4_OESOPHAGUS Phase_I g.chr19:1172319_1172319delC uc002lrl.1 + c.842_842delC c.(841-843)CCGfs p.P281fs NM_000455 NP_000446 Q15831 STK11_HUMAN serine/threonine protein kinase 11 281 Protein kinase. OM_00931 F STK11 6794 broad.mit.edu 36 19 1172319 1172319 + Frame_Shift_Del DEL C - - HEC151_ENDOMETRIUM Phase_I g.chr19:1172319_1172319delC uc002lrl.1 + c.842_842delC c.(841-843)CCGfs p.P281fs NM_000455 NP_000446 Q15831 STK11_HUMAN serine/threonine protein kinase 11 281 Protein kinase. OM_00931 F STK11 6794 broad.mit.edu 36 19 1172319 1172319 + Frame_Shift_Del DEL C - - NCIH2122_LUNG Phase_I g.chr19:1172319_1172319delC uc002lrl.1 + c.842_842delC c.(841-843)CCGfs p.P281fs NM_000455 NP_000446 Q15831 STK11_HUMAN serine/threonine protein kinase 11 281 Protein kinase. OM_00931 F STK11 6794 broad.mit.edu 36 19 1172319 1172319 + Frame_Shift_Del DEL C - - G361_SKIN Phase_I g.chr19:1172319_1172319delC uc002lrl.1 + c.842_842delC c.(841-843)CCGfs p.P281fs NM_000455 NP_000446 Q15831 STK11_HUMAN serine/threonine protein kinase 11 281 Protein kinase. OM_00931 F STK11 6794 broad.mit.edu 36 19 1172319 1172319 + Frame_Shift_Del DEL C - - TOV21G_OVARY Phase_I g.chr19:1172319_1172319delC uc002lrl.1 + c.842_842delC c.(841-843)CCGfs p.P281fs NM_000455 NP_000446 Q15831 STK11_HUMAN serine/threonine protein kinase 11 281 Protein kinase. OM_00931 F TP53 7157 broad.mit.edu 36 17 7519131 7519131 + Missense_Mutation SNP C T T rs28934578 unknown SKBR3_BREAST Phase_I g.chr17:7519131C>T uc002gim.2 - c.524G>A c.(523-525)CGC>CAC p.R175H TP53_uc002gig.1_Missense_Mutation_p.R175H|TP53_uc002gih.1_Missense_Mutation_p.R175H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R43H|TP53_uc010cng.1_Missense_Mutation_p.R43H|TP53_uc002gii.1_Missense_Mutation_p.R43H|TP53_uc010cnh.1_Missense_Mutation_p.R175H|TP53_uc010cni.1_Missense_Mutation_p.R175H|TP53_uc002gij.2_Missense_Mutation_p.R175H|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R82H|TP53_uc002gio.2_Missense_Mutation_p.R43H NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 175 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). OM_00946 R TP53 7157 broad.mit.edu 36 17 7519131 7519131 + Missense_Mutation SNP C T T rs28934578 unknown AU565_BREAST Phase_I g.chr17:7519131C>T uc002gim.2 - c.524G>A c.(523-525)CGC>CAC p.R175H TP53_uc002gig.1_Missense_Mutation_p.R175H|TP53_uc002gih.1_Missense_Mutation_p.R175H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R43H|TP53_uc010cng.1_Missense_Mutation_p.R43H|TP53_uc002gii.1_Missense_Mutation_p.R43H|TP53_uc010cnh.1_Missense_Mutation_p.R175H|TP53_uc010cni.1_Missense_Mutation_p.R175H|TP53_uc002gij.2_Missense_Mutation_p.R175H|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R82H|TP53_uc002gio.2_Missense_Mutation_p.R43H NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 175 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). OM_00946 R TP53 7157 broad.mit.edu 36 17 7519131 7519131 + Missense_Mutation SNP C T T rs28934578 unknown HS571T_OVARY Phase_I g.chr17:7519131C>T uc002gim.2 - c.524G>A c.(523-525)CGC>CAC p.R175H TP53_uc002gig.1_Missense_Mutation_p.R175H|TP53_uc002gih.1_Missense_Mutation_p.R175H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R43H|TP53_uc010cng.1_Missense_Mutation_p.R43H|TP53_uc002gii.1_Missense_Mutation_p.R43H|TP53_uc010cnh.1_Missense_Mutation_p.R175H|TP53_uc010cni.1_Missense_Mutation_p.R175H|TP53_uc002gij.2_Missense_Mutation_p.R175H|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R82H|TP53_uc002gio.2_Missense_Mutation_p.R43H NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 175 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). OM_00946 R TP53 7157 broad.mit.edu 36 17 7519131 7519131 + Missense_Mutation SNP C T T rs28934578 unknown SKUT1_SOFT_TISSUE Phase_I g.chr17:7519131C>T uc002gim.2 - c.524G>A c.(523-525)CGC>CAC p.R175H TP53_uc002gig.1_Missense_Mutation_p.R175H|TP53_uc002gih.1_Missense_Mutation_p.R175H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R43H|TP53_uc010cng.1_Missense_Mutation_p.R43H|TP53_uc002gii.1_Missense_Mutation_p.R43H|TP53_uc010cnh.1_Missense_Mutation_p.R175H|TP53_uc010cni.1_Missense_Mutation_p.R175H|TP53_uc002gij.2_Missense_Mutation_p.R175H|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R82H|TP53_uc002gio.2_Missense_Mutation_p.R43H NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 175 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). OM_00946 R TP53 7157 broad.mit.edu 36 17 7519131 7519131 + Missense_Mutation SNP C T T rs28934578 unknown TYKNU_OVARY Phase_I g.chr17:7519131C>T uc002gim.2 - c.524G>A c.(523-525)CGC>CAC p.R175H TP53_uc002gig.1_Missense_Mutation_p.R175H|TP53_uc002gih.1_Missense_Mutation_p.R175H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R43H|TP53_uc010cng.1_Missense_Mutation_p.R43H|TP53_uc002gii.1_Missense_Mutation_p.R43H|TP53_uc010cnh.1_Missense_Mutation_p.R175H|TP53_uc010cni.1_Missense_Mutation_p.R175H|TP53_uc002gij.2_Missense_Mutation_p.R175H|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R82H|TP53_uc002gio.2_Missense_Mutation_p.R43H NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 175 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). OM_00946 R TP53 7157 broad.mit.edu 36 17 7519131 7519131 + Missense_Mutation SNP C T T rs28934578 unknown SNU1197_LARGE_INTESTINE Phase_I g.chr17:7519131C>T uc002gim.2 - c.524G>A c.(523-525)CGC>CAC p.R175H TP53_uc002gig.1_Missense_Mutation_p.R175H|TP53_uc002gih.1_Missense_Mutation_p.R175H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R43H|TP53_uc010cng.1_Missense_Mutation_p.R43H|TP53_uc002gii.1_Missense_Mutation_p.R43H|TP53_uc010cnh.1_Missense_Mutation_p.R175H|TP53_uc010cni.1_Missense_Mutation_p.R175H|TP53_uc002gij.2_Missense_Mutation_p.R175H|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R82H|TP53_uc002gio.2_Missense_Mutation_p.R43H NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 175 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). OM_00946 R TP53 7157 broad.mit.edu 36 17 7519131 7519131 + Missense_Mutation SNP C T T rs28934578 unknown SNU245_BILIARY_TRACT Phase_I g.chr17:7519131C>T uc002gim.2 - c.524G>A c.(523-525)CGC>CAC p.R175H TP53_uc002gig.1_Missense_Mutation_p.R175H|TP53_uc002gih.1_Missense_Mutation_p.R175H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R43H|TP53_uc010cng.1_Missense_Mutation_p.R43H|TP53_uc002gii.1_Missense_Mutation_p.R43H|TP53_uc010cnh.1_Missense_Mutation_p.R175H|TP53_uc010cni.1_Missense_Mutation_p.R175H|TP53_uc002gij.2_Missense_Mutation_p.R175H|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R82H|TP53_uc002gio.2_Missense_Mutation_p.R43H NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 175 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). OM_00946 R TP53 7157 broad.mit.edu 36 17 7519131 7519131 + Missense_Mutation SNP C T T rs28934578 unknown NCIH196_LUNG Phase_I g.chr17:7519131C>T uc002gim.2 - c.524G>A c.(523-525)CGC>CAC p.R175H TP53_uc002gig.1_Missense_Mutation_p.R175H|TP53_uc002gih.1_Missense_Mutation_p.R175H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R43H|TP53_uc010cng.1_Missense_Mutation_p.R43H|TP53_uc002gii.1_Missense_Mutation_p.R43H|TP53_uc010cnh.1_Missense_Mutation_p.R175H|TP53_uc010cni.1_Missense_Mutation_p.R175H|TP53_uc002gij.2_Missense_Mutation_p.R175H|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R82H|TP53_uc002gio.2_Missense_Mutation_p.R43H NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 175 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). OM_00946 R TP53 7157 broad.mit.edu 36 17 7519131 7519131 + Missense_Mutation SNP C T T rs28934578 unknown TOV112D_OVARY Phase_I g.chr17:7519131C>T uc002gim.2 - c.524G>A c.(523-525)CGC>CAC p.R175H TP53_uc002gig.1_Missense_Mutation_p.R175H|TP53_uc002gih.1_Missense_Mutation_p.R175H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R43H|TP53_uc010cng.1_Missense_Mutation_p.R43H|TP53_uc002gii.1_Missense_Mutation_p.R43H|TP53_uc010cnh.1_Missense_Mutation_p.R175H|TP53_uc010cni.1_Missense_Mutation_p.R175H|TP53_uc002gij.2_Missense_Mutation_p.R175H|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R82H|TP53_uc002gio.2_Missense_Mutation_p.R43H NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 175 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). OM_00946 R TP53 7157 broad.mit.edu 36 17 7519131 7519131 + Missense_Mutation SNP C T T rs28934578 unknown KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE Phase_I g.chr17:7519131C>T uc002gim.2 - c.524G>A c.(523-525)CGC>CAC p.R175H TP53_uc002gig.1_Missense_Mutation_p.R175H|TP53_uc002gih.1_Missense_Mutation_p.R175H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R43H|TP53_uc010cng.1_Missense_Mutation_p.R43H|TP53_uc002gii.1_Missense_Mutation_p.R43H|TP53_uc010cnh.1_Missense_Mutation_p.R175H|TP53_uc010cni.1_Missense_Mutation_p.R175H|TP53_uc002gij.2_Missense_Mutation_p.R175H|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R82H|TP53_uc002gio.2_Missense_Mutation_p.R43H NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 175 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). OM_00946 R TP53 7157 broad.mit.edu 36 17 7519131 7519131 + Missense_Mutation SNP C T T rs28934578 unknown HCC1395_BREAST Phase_I g.chr17:7519131C>T uc002gim.2 - c.524G>A c.(523-525)CGC>CAC p.R175H TP53_uc002gig.1_Missense_Mutation_p.R175H|TP53_uc002gih.1_Missense_Mutation_p.R175H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R43H|TP53_uc010cng.1_Missense_Mutation_p.R43H|TP53_uc002gii.1_Missense_Mutation_p.R43H|TP53_uc010cnh.1_Missense_Mutation_p.R175H|TP53_uc010cni.1_Missense_Mutation_p.R175H|TP53_uc002gij.2_Missense_Mutation_p.R175H|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R82H|TP53_uc002gio.2_Missense_Mutation_p.R43H NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 175 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). OM_00946 R TP53 7157 broad.mit.edu 36 17 7519131 7519131 + Missense_Mutation SNP C T T rs28934578 unknown CAL33_UPPER_AERODIGESTIVE_TRACT Phase_I g.chr17:7519131C>T uc002gim.2 - c.524G>A c.(523-525)CGC>CAC p.R175H TP53_uc002gig.1_Missense_Mutation_p.R175H|TP53_uc002gih.1_Missense_Mutation_p.R175H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R43H|TP53_uc010cng.1_Missense_Mutation_p.R43H|TP53_uc002gii.1_Missense_Mutation_p.R43H|TP53_uc010cnh.1_Missense_Mutation_p.R175H|TP53_uc010cni.1_Missense_Mutation_p.R175H|TP53_uc002gij.2_Missense_Mutation_p.R175H|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R82H|TP53_uc002gio.2_Missense_Mutation_p.R43H NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 175 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). OM_00946 R TP53 7157 broad.mit.edu 36 17 7519131 7519131 + Missense_Mutation SNP C T T rs28934578 unknown OPM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE Phase_I g.chr17:7519131C>T uc002gim.2 - c.524G>A c.(523-525)CGC>CAC p.R175H TP53_uc002gig.1_Missense_Mutation_p.R175H|TP53_uc002gih.1_Missense_Mutation_p.R175H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R43H|TP53_uc010cng.1_Missense_Mutation_p.R43H|TP53_uc002gii.1_Missense_Mutation_p.R43H|TP53_uc010cnh.1_Missense_Mutation_p.R175H|TP53_uc010cni.1_Missense_Mutation_p.R175H|TP53_uc002gij.2_Missense_Mutation_p.R175H|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R82H|TP53_uc002gio.2_Missense_Mutation_p.R43H NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 175 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). OM_00946 R TP53 7157 broad.mit.edu 36 17 7519131 7519131 + Missense_Mutation SNP C T T rs28934578 unknown HUCCT1_BILIARY_TRACT Phase_I g.chr17:7519131C>T uc002gim.2 - c.524G>A c.(523-525)CGC>CAC p.R175H TP53_uc002gig.1_Missense_Mutation_p.R175H|TP53_uc002gih.1_Missense_Mutation_p.R175H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R43H|TP53_uc010cng.1_Missense_Mutation_p.R43H|TP53_uc002gii.1_Missense_Mutation_p.R43H|TP53_uc010cnh.1_Missense_Mutation_p.R175H|TP53_uc010cni.1_Missense_Mutation_p.R175H|TP53_uc002gij.2_Missense_Mutation_p.R175H|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R82H|TP53_uc002gio.2_Missense_Mutation_p.R43H NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 175 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). OM_00946 R TP53 7157 broad.mit.edu 36 17 7519131 7519131 + Missense_Mutation SNP C T T rs28934578 unknown RKN_SOFT_TISSUE Phase_I g.chr17:7519131C>T uc002gim.2 - c.524G>A c.(523-525)CGC>CAC p.R175H TP53_uc002gig.1_Missense_Mutation_p.R175H|TP53_uc002gih.1_Missense_Mutation_p.R175H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R43H|TP53_uc010cng.1_Missense_Mutation_p.R43H|TP53_uc002gii.1_Missense_Mutation_p.R43H|TP53_uc010cnh.1_Missense_Mutation_p.R175H|TP53_uc010cni.1_Missense_Mutation_p.R175H|TP53_uc002gij.2_Missense_Mutation_p.R175H|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R82H|TP53_uc002gio.2_Missense_Mutation_p.R43H NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 175 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). OM_00946 R TP53 7157 broad.mit.edu 36 17 7519131 7519131 + Missense_Mutation SNP C T T rs28934578 unknown VMCUB1_URINARY_TRACT Phase_I g.chr17:7519131C>T uc002gim.2 - c.524G>A c.(523-525)CGC>CAC p.R175H TP53_uc002gig.1_Missense_Mutation_p.R175H|TP53_uc002gih.1_Missense_Mutation_p.R175H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R43H|TP53_uc010cng.1_Missense_Mutation_p.R43H|TP53_uc002gii.1_Missense_Mutation_p.R43H|TP53_uc010cnh.1_Missense_Mutation_p.R175H|TP53_uc010cni.1_Missense_Mutation_p.R175H|TP53_uc002gij.2_Missense_Mutation_p.R175H|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R82H|TP53_uc002gio.2_Missense_Mutation_p.R43H NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 175 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). OM_00946 R TP53 7157 broad.mit.edu 36 17 7519131 7519131 + Missense_Mutation SNP C T T rs28934578 unknown DETROIT562_UPPER_AERODIGESTIVE_TRACT Phase_I g.chr17:7519131C>T uc002gim.2 - c.524G>A c.(523-525)CGC>CAC p.R175H TP53_uc002gig.1_Missense_Mutation_p.R175H|TP53_uc002gih.1_Missense_Mutation_p.R175H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R43H|TP53_uc010cng.1_Missense_Mutation_p.R43H|TP53_uc002gii.1_Missense_Mutation_p.R43H|TP53_uc010cnh.1_Missense_Mutation_p.R175H|TP53_uc010cni.1_Missense_Mutation_p.R175H|TP53_uc002gij.2_Missense_Mutation_p.R175H|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R82H|TP53_uc002gio.2_Missense_Mutation_p.R43H NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 175 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). OM_00946 R TP53 7157 broad.mit.edu 36 17 7519131 7519131 + Missense_Mutation SNP C T T rs28934578 unknown SNU61_LARGE_INTESTINE Phase_I g.chr17:7519131C>T uc002gim.2 - c.524G>A c.(523-525)CGC>CAC p.R175H TP53_uc002gig.1_Missense_Mutation_p.R175H|TP53_uc002gih.1_Missense_Mutation_p.R175H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R43H|TP53_uc010cng.1_Missense_Mutation_p.R43H|TP53_uc002gii.1_Missense_Mutation_p.R43H|TP53_uc010cnh.1_Missense_Mutation_p.R175H|TP53_uc010cni.1_Missense_Mutation_p.R175H|TP53_uc002gij.2_Missense_Mutation_p.R175H|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R82H|TP53_uc002gio.2_Missense_Mutation_p.R43H NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 175 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). OM_00946 R TP53 7157 broad.mit.edu 36 17 7519131 7519131 + Missense_Mutation SNP C T T rs28934578 unknown KLE_ENDOMETRIUM Phase_I g.chr17:7519131C>T uc002gim.2 - c.524G>A c.(523-525)CGC>CAC p.R175H TP53_uc002gig.1_Missense_Mutation_p.R175H|TP53_uc002gih.1_Missense_Mutation_p.R175H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R43H|TP53_uc010cng.1_Missense_Mutation_p.R43H|TP53_uc002gii.1_Missense_Mutation_p.R43H|TP53_uc010cnh.1_Missense_Mutation_p.R175H|TP53_uc010cni.1_Missense_Mutation_p.R175H|TP53_uc002gij.2_Missense_Mutation_p.R175H|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R82H|TP53_uc002gio.2_Missense_Mutation_p.R43H NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 175 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). OM_00946 R TP53 7157 broad.mit.edu 36 17 7519131 7519131 + Missense_Mutation SNP C T T rs28934578 unknown LS123_LARGE_INTESTINE Phase_I g.chr17:7519131C>T uc002gim.2 - c.524G>A c.(523-525)CGC>CAC p.R175H TP53_uc002gig.1_Missense_Mutation_p.R175H|TP53_uc002gih.1_Missense_Mutation_p.R175H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R43H|TP53_uc010cng.1_Missense_Mutation_p.R43H|TP53_uc002gii.1_Missense_Mutation_p.R43H|TP53_uc010cnh.1_Missense_Mutation_p.R175H|TP53_uc010cni.1_Missense_Mutation_p.R175H|TP53_uc002gij.2_Missense_Mutation_p.R175H|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R82H|TP53_uc002gio.2_Missense_Mutation_p.R43H NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 175 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). OM_00946 R TP53 7157 broad.mit.edu 36 17 7519131 7519131 + Missense_Mutation SNP C T T rs28934578 unknown RT11284_URINARY_TRACT Phase_I g.chr17:7519131C>T uc002gim.2 - c.524G>A c.(523-525)CGC>CAC p.R175H TP53_uc002gig.1_Missense_Mutation_p.R175H|TP53_uc002gih.1_Missense_Mutation_p.R175H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R43H|TP53_uc010cng.1_Missense_Mutation_p.R43H|TP53_uc002gii.1_Missense_Mutation_p.R43H|TP53_uc010cnh.1_Missense_Mutation_p.R175H|TP53_uc010cni.1_Missense_Mutation_p.R175H|TP53_uc002gij.2_Missense_Mutation_p.R175H|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R82H|TP53_uc002gio.2_Missense_Mutation_p.R43H NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 175 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). OM_00946 R TP53 7157 broad.mit.edu 36 17 7519131 7519131 + Missense_Mutation SNP C T T rs28934578 unknown LMSU_STOMACH Phase_I g.chr17:7519131C>T uc002gim.2 - c.524G>A c.(523-525)CGC>CAC p.R175H TP53_uc002gig.1_Missense_Mutation_p.R175H|TP53_uc002gih.1_Missense_Mutation_p.R175H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R43H|TP53_uc010cng.1_Missense_Mutation_p.R43H|TP53_uc002gii.1_Missense_Mutation_p.R43H|TP53_uc010cnh.1_Missense_Mutation_p.R175H|TP53_uc010cni.1_Missense_Mutation_p.R175H|TP53_uc002gij.2_Missense_Mutation_p.R175H|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R82H|TP53_uc002gio.2_Missense_Mutation_p.R43H NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 175 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). OM_00946 R TP53 7157 broad.mit.edu 36 17 7519131 7519131 + Missense_Mutation SNP C T T rs28934578 unknown VMRCLCD_LUNG Phase_I g.chr17:7519131C>T uc002gim.2 - c.524G>A c.(523-525)CGC>CAC p.R175H TP53_uc002gig.1_Missense_Mutation_p.R175H|TP53_uc002gih.1_Missense_Mutation_p.R175H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R43H|TP53_uc010cng.1_Missense_Mutation_p.R43H|TP53_uc002gii.1_Missense_Mutation_p.R43H|TP53_uc010cnh.1_Missense_Mutation_p.R175H|TP53_uc010cni.1_Missense_Mutation_p.R175H|TP53_uc002gij.2_Missense_Mutation_p.R175H|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R82H|TP53_uc002gio.2_Missense_Mutation_p.R43H NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 175 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). OM_00946 R TP53 7157 broad.mit.edu 36 17 7518273 7518273 + Missense_Mutation SNP C T T rs28934575 unknown NUGC2_STOMACH Phase_I g.chr17:7518273C>T uc002gim.2 - c.733G>A c.(733-735)GGC>AGC p.G245S TP53_uc002gig.1_Missense_Mutation_p.G245S|TP53_uc002gih.1_Missense_Mutation_p.G245S|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.G113S|TP53_uc010cng.1_Missense_Mutation_p.G113S|TP53_uc002gii.1_Missense_Mutation_p.G113S|TP53_uc010cnh.1_Missense_Mutation_p.G245S|TP53_uc010cni.1_Missense_Mutation_p.G245S|TP53_uc002gij.2_Missense_Mutation_p.G245S|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.G152S|TP53_uc002gio.2_Missense_Mutation_p.G113S NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 245 |Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity). OM_00947 R TP53 7157 broad.mit.edu 36 17 7518273 7518273 + Missense_Mutation SNP C T T rs28934575 unknown PANC0403_PANCREAS Phase_I g.chr17:7518273C>T uc002gim.2 - c.733G>A c.(733-735)GGC>AGC p.G245S TP53_uc002gig.1_Missense_Mutation_p.G245S|TP53_uc002gih.1_Missense_Mutation_p.G245S|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.G113S|TP53_uc010cng.1_Missense_Mutation_p.G113S|TP53_uc002gii.1_Missense_Mutation_p.G113S|TP53_uc010cnh.1_Missense_Mutation_p.G245S|TP53_uc010cni.1_Missense_Mutation_p.G245S|TP53_uc002gij.2_Missense_Mutation_p.G245S|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.G152S|TP53_uc002gio.2_Missense_Mutation_p.G113S NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 245 |Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity). OM_00947 R TP53 7157 broad.mit.edu 36 17 7518273 7518273 + Missense_Mutation SNP C T T rs28934575 unknown SKLMS1_SOFT_TISSUE Phase_I g.chr17:7518273C>T uc002gim.2 - c.733G>A c.(733-735)GGC>AGC p.G245S TP53_uc002gig.1_Missense_Mutation_p.G245S|TP53_uc002gih.1_Missense_Mutation_p.G245S|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.G113S|TP53_uc010cng.1_Missense_Mutation_p.G113S|TP53_uc002gii.1_Missense_Mutation_p.G113S|TP53_uc010cnh.1_Missense_Mutation_p.G245S|TP53_uc010cni.1_Missense_Mutation_p.G245S|TP53_uc002gij.2_Missense_Mutation_p.G245S|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.G152S|TP53_uc002gio.2_Missense_Mutation_p.G113S NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 245 |Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity). OM_00947 R TP53 7157 broad.mit.edu 36 17 7518273 7518273 + Missense_Mutation SNP C T T rs28934575 unknown SKMEL2_SKIN Phase_I g.chr17:7518273C>T uc002gim.2 - c.733G>A c.(733-735)GGC>AGC p.G245S TP53_uc002gig.1_Missense_Mutation_p.G245S|TP53_uc002gih.1_Missense_Mutation_p.G245S|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.G113S|TP53_uc010cng.1_Missense_Mutation_p.G113S|TP53_uc002gii.1_Missense_Mutation_p.G113S|TP53_uc010cnh.1_Missense_Mutation_p.G245S|TP53_uc010cni.1_Missense_Mutation_p.G245S|TP53_uc002gij.2_Missense_Mutation_p.G245S|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.G152S|TP53_uc002gio.2_Missense_Mutation_p.G113S NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 245 |Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity). OM_00947 R TP53 7157 broad.mit.edu 36 17 7518273 7518273 + Missense_Mutation SNP C T T rs28934575 unknown SNUC4_LARGE_INTESTINE Phase_I g.chr17:7518273C>T uc002gim.2 - c.733G>A c.(733-735)GGC>AGC p.G245S TP53_uc002gig.1_Missense_Mutation_p.G245S|TP53_uc002gih.1_Missense_Mutation_p.G245S|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.G113S|TP53_uc010cng.1_Missense_Mutation_p.G113S|TP53_uc002gii.1_Missense_Mutation_p.G113S|TP53_uc010cnh.1_Missense_Mutation_p.G245S|TP53_uc010cni.1_Missense_Mutation_p.G245S|TP53_uc002gij.2_Missense_Mutation_p.G245S|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.G152S|TP53_uc002gio.2_Missense_Mutation_p.G113S NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 245 |Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity). OM_00947 R TP53 7157 broad.mit.edu 36 17 7518273 7518273 + Missense_Mutation SNP C T T rs28934575 unknown NCIH684_LIVER Phase_I g.chr17:7518273C>T uc002gim.2 - c.733G>A c.(733-735)GGC>AGC p.G245S TP53_uc002gig.1_Missense_Mutation_p.G245S|TP53_uc002gih.1_Missense_Mutation_p.G245S|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.G113S|TP53_uc010cng.1_Missense_Mutation_p.G113S|TP53_uc002gii.1_Missense_Mutation_p.G113S|TP53_uc010cnh.1_Missense_Mutation_p.G245S|TP53_uc010cni.1_Missense_Mutation_p.G245S|TP53_uc002gij.2_Missense_Mutation_p.G245S|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.G152S|TP53_uc002gio.2_Missense_Mutation_p.G113S NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 245 |Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity). OM_00947 R TP53 7157 broad.mit.edu 36 17 7518273 7518273 + Missense_Mutation SNP C T T rs28934575 unknown LS1034_LARGE_INTESTINE Phase_I g.chr17:7518273C>T uc002gim.2 - c.733G>A c.(733-735)GGC>AGC p.G245S TP53_uc002gig.1_Missense_Mutation_p.G245S|TP53_uc002gih.1_Missense_Mutation_p.G245S|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.G113S|TP53_uc010cng.1_Missense_Mutation_p.G113S|TP53_uc002gii.1_Missense_Mutation_p.G113S|TP53_uc010cnh.1_Missense_Mutation_p.G245S|TP53_uc010cni.1_Missense_Mutation_p.G245S|TP53_uc002gij.2_Missense_Mutation_p.G245S|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.G152S|TP53_uc002gio.2_Missense_Mutation_p.G113S NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 245 |Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity). OM_00947 R TP53 7157 broad.mit.edu 36 17 7518264 7518264 + Missense_Mutation SNP G A A SNU1040_LARGE_INTESTINE Phase_I g.chr17:7518264G>A uc002gim.2 - c.742C>T c.(742-744)CGG>TGG p.R248W TP53_uc002gig.1_Missense_Mutation_p.R248W|TP53_uc002gih.1_Missense_Mutation_p.R248W|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116W|TP53_uc010cng.1_Missense_Mutation_p.R116W|TP53_uc002gii.1_Missense_Mutation_p.R116W|TP53_uc010cnh.1_Missense_Mutation_p.R248W|TP53_uc010cni.1_Missense_Mutation_p.R248W|TP53_uc002gij.2_Missense_Mutation_p.R248W|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R155W|TP53_uc002gio.2_Missense_Mutation_p.R116W NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 248 |Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity). OM_00948 R TP53 7157 broad.mit.edu 36 17 7518264 7518264 + Missense_Mutation SNP G A A LUDLU1_LUNG Phase_I g.chr17:7518264G>A uc002gim.2 - c.742C>T c.(742-744)CGG>TGG p.R248W TP53_uc002gig.1_Missense_Mutation_p.R248W|TP53_uc002gih.1_Missense_Mutation_p.R248W|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116W|TP53_uc010cng.1_Missense_Mutation_p.R116W|TP53_uc002gii.1_Missense_Mutation_p.R116W|TP53_uc010cnh.1_Missense_Mutation_p.R248W|TP53_uc010cni.1_Missense_Mutation_p.R248W|TP53_uc002gij.2_Missense_Mutation_p.R248W|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R155W|TP53_uc002gio.2_Missense_Mutation_p.R116W NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 248 |Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity). OM_00948 R TP53 7157 broad.mit.edu 36 17 7518264 7518264 + Missense_Mutation SNP G A A HCC2157_BREAST Phase_I g.chr17:7518264G>A uc002gim.2 - c.742C>T c.(742-744)CGG>TGG p.R248W TP53_uc002gig.1_Missense_Mutation_p.R248W|TP53_uc002gih.1_Missense_Mutation_p.R248W|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116W|TP53_uc010cng.1_Missense_Mutation_p.R116W|TP53_uc002gii.1_Missense_Mutation_p.R116W|TP53_uc010cnh.1_Missense_Mutation_p.R248W|TP53_uc010cni.1_Missense_Mutation_p.R248W|TP53_uc002gij.2_Missense_Mutation_p.R248W|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R155W|TP53_uc002gio.2_Missense_Mutation_p.R116W NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 248 |Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity). OM_00948 R TP53 7157 broad.mit.edu 36 17 7518264 7518264 + Missense_Mutation SNP G A A CAS1_CENTRAL_NERVOUS_SYSTEM Phase_I g.chr17:7518264G>A uc002gim.2 - c.742C>T c.(742-744)CGG>TGG p.R248W TP53_uc002gig.1_Missense_Mutation_p.R248W|TP53_uc002gih.1_Missense_Mutation_p.R248W|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116W|TP53_uc010cng.1_Missense_Mutation_p.R116W|TP53_uc002gii.1_Missense_Mutation_p.R116W|TP53_uc010cnh.1_Missense_Mutation_p.R248W|TP53_uc010cni.1_Missense_Mutation_p.R248W|TP53_uc002gij.2_Missense_Mutation_p.R248W|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R155W|TP53_uc002gio.2_Missense_Mutation_p.R116W NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 248 |Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity). OM_00948 R TP53 7157 broad.mit.edu 36 17 7518264 7518264 + Missense_Mutation SNP G A A SNUC5_LARGE_INTESTINE Phase_I g.chr17:7518264G>A uc002gim.2 - c.742C>T c.(742-744)CGG>TGG p.R248W TP53_uc002gig.1_Missense_Mutation_p.R248W|TP53_uc002gih.1_Missense_Mutation_p.R248W|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116W|TP53_uc010cng.1_Missense_Mutation_p.R116W|TP53_uc002gii.1_Missense_Mutation_p.R116W|TP53_uc010cnh.1_Missense_Mutation_p.R248W|TP53_uc010cni.1_Missense_Mutation_p.R248W|TP53_uc002gij.2_Missense_Mutation_p.R248W|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R155W|TP53_uc002gio.2_Missense_Mutation_p.R116W NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 248 |Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity). OM_00948 R TP53 7157 broad.mit.edu 36 17 7518264 7518264 + Missense_Mutation SNP G A A JIMT1_BREAST Phase_I g.chr17:7518264G>A uc002gim.2 - c.742C>T c.(742-744)CGG>TGG p.R248W TP53_uc002gig.1_Missense_Mutation_p.R248W|TP53_uc002gih.1_Missense_Mutation_p.R248W|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116W|TP53_uc010cng.1_Missense_Mutation_p.R116W|TP53_uc002gii.1_Missense_Mutation_p.R116W|TP53_uc010cnh.1_Missense_Mutation_p.R248W|TP53_uc010cni.1_Missense_Mutation_p.R248W|TP53_uc002gij.2_Missense_Mutation_p.R248W|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R155W|TP53_uc002gio.2_Missense_Mutation_p.R116W NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 248 |Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity). OM_00948 R TP53 7157 broad.mit.edu 36 17 7518264 7518264 + Missense_Mutation SNP G A A 786O_KIDNEY Phase_I g.chr17:7518264G>A uc002gim.2 - c.742C>T c.(742-744)CGG>TGG p.R248W TP53_uc002gig.1_Missense_Mutation_p.R248W|TP53_uc002gih.1_Missense_Mutation_p.R248W|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116W|TP53_uc010cng.1_Missense_Mutation_p.R116W|TP53_uc002gii.1_Missense_Mutation_p.R116W|TP53_uc010cnh.1_Missense_Mutation_p.R248W|TP53_uc010cni.1_Missense_Mutation_p.R248W|TP53_uc002gij.2_Missense_Mutation_p.R248W|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R155W|TP53_uc002gio.2_Missense_Mutation_p.R116W NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 248 |Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity). OM_00948 R TP53 7157 broad.mit.edu 36 17 7518264 7518264 + Missense_Mutation SNP G A A DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE Phase_I g.chr17:7518264G>A uc002gim.2 - c.742C>T c.(742-744)CGG>TGG p.R248W TP53_uc002gig.1_Missense_Mutation_p.R248W|TP53_uc002gih.1_Missense_Mutation_p.R248W|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116W|TP53_uc010cng.1_Missense_Mutation_p.R116W|TP53_uc002gii.1_Missense_Mutation_p.R116W|TP53_uc010cnh.1_Missense_Mutation_p.R248W|TP53_uc010cni.1_Missense_Mutation_p.R248W|TP53_uc002gij.2_Missense_Mutation_p.R248W|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R155W|TP53_uc002gio.2_Missense_Mutation_p.R116W NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 248 |Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity). OM_00948 R TP53 7157 broad.mit.edu 36 17 7518264 7518264 + Missense_Mutation SNP G A A COLO680N_OESOPHAGUS Phase_I g.chr17:7518264G>A uc002gim.2 - c.742C>T c.(742-744)CGG>TGG p.R248W TP53_uc002gig.1_Missense_Mutation_p.R248W|TP53_uc002gih.1_Missense_Mutation_p.R248W|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116W|TP53_uc010cng.1_Missense_Mutation_p.R116W|TP53_uc002gii.1_Missense_Mutation_p.R116W|TP53_uc010cnh.1_Missense_Mutation_p.R248W|TP53_uc010cni.1_Missense_Mutation_p.R248W|TP53_uc002gij.2_Missense_Mutation_p.R248W|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R155W|TP53_uc002gio.2_Missense_Mutation_p.R116W NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 248 |Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity). OM_00948 R TP53 7157 broad.mit.edu 36 17 7518264 7518264 + Missense_Mutation SNP G A A GCT_SOFT_TISSUE Phase_I g.chr17:7518264G>A uc002gim.2 - c.742C>T c.(742-744)CGG>TGG p.R248W TP53_uc002gig.1_Missense_Mutation_p.R248W|TP53_uc002gih.1_Missense_Mutation_p.R248W|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116W|TP53_uc010cng.1_Missense_Mutation_p.R116W|TP53_uc002gii.1_Missense_Mutation_p.R116W|TP53_uc010cnh.1_Missense_Mutation_p.R248W|TP53_uc010cni.1_Missense_Mutation_p.R248W|TP53_uc002gij.2_Missense_Mutation_p.R248W|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R155W|TP53_uc002gio.2_Missense_Mutation_p.R116W NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 248 |Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity). OM_00948 R TP53 7157 broad.mit.edu 36 17 7518264 7518264 + Missense_Mutation SNP G A A VCAP_PROSTATE Phase_I g.chr17:7518264G>A uc002gim.2 - c.742C>T c.(742-744)CGG>TGG p.R248W TP53_uc002gig.1_Missense_Mutation_p.R248W|TP53_uc002gih.1_Missense_Mutation_p.R248W|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116W|TP53_uc010cng.1_Missense_Mutation_p.R116W|TP53_uc002gii.1_Missense_Mutation_p.R116W|TP53_uc010cnh.1_Missense_Mutation_p.R248W|TP53_uc010cni.1_Missense_Mutation_p.R248W|TP53_uc002gij.2_Missense_Mutation_p.R248W|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R155W|TP53_uc002gio.2_Missense_Mutation_p.R116W NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 248 |Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity). OM_00948 R TP53 7157 broad.mit.edu 36 17 7518264 7518264 + Missense_Mutation SNP G A A SW837_LARGE_INTESTINE Phase_I g.chr17:7518264G>A uc002gim.2 - c.742C>T c.(742-744)CGG>TGG p.R248W TP53_uc002gig.1_Missense_Mutation_p.R248W|TP53_uc002gih.1_Missense_Mutation_p.R248W|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116W|TP53_uc010cng.1_Missense_Mutation_p.R116W|TP53_uc002gii.1_Missense_Mutation_p.R116W|TP53_uc010cnh.1_Missense_Mutation_p.R248W|TP53_uc010cni.1_Missense_Mutation_p.R248W|TP53_uc002gij.2_Missense_Mutation_p.R248W|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R155W|TP53_uc002gio.2_Missense_Mutation_p.R116W NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 248 |Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity). OM_00948 R TP53 7157 broad.mit.edu 36 17 7518264 7518264 + Missense_Mutation SNP G A A COLO320_LARGE_INTESTINE Phase_I g.chr17:7518264G>A uc002gim.2 - c.742C>T c.(742-744)CGG>TGG p.R248W TP53_uc002gig.1_Missense_Mutation_p.R248W|TP53_uc002gih.1_Missense_Mutation_p.R248W|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116W|TP53_uc010cng.1_Missense_Mutation_p.R116W|TP53_uc002gii.1_Missense_Mutation_p.R116W|TP53_uc010cnh.1_Missense_Mutation_p.R248W|TP53_uc010cni.1_Missense_Mutation_p.R248W|TP53_uc002gij.2_Missense_Mutation_p.R248W|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R155W|TP53_uc002gio.2_Missense_Mutation_p.R116W NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 248 |Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity). OM_00948 R TP53 7157 broad.mit.edu 36 17 7518264 7518264 + Missense_Mutation SNP G A A KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE Phase_I g.chr17:7518264G>A uc002gim.2 - c.742C>T c.(742-744)CGG>TGG p.R248W TP53_uc002gig.1_Missense_Mutation_p.R248W|TP53_uc002gih.1_Missense_Mutation_p.R248W|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116W|TP53_uc010cng.1_Missense_Mutation_p.R116W|TP53_uc002gii.1_Missense_Mutation_p.R116W|TP53_uc010cnh.1_Missense_Mutation_p.R248W|TP53_uc010cni.1_Missense_Mutation_p.R248W|TP53_uc002gij.2_Missense_Mutation_p.R248W|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R155W|TP53_uc002gio.2_Missense_Mutation_p.R116W NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 248 |Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity). OM_00948 R TP53 7157 broad.mit.edu 36 17 7518264 7518264 + Missense_Mutation SNP G A A MIAPACA2_PANCREAS Phase_I g.chr17:7518264G>A uc002gim.2 - c.742C>T c.(742-744)CGG>TGG p.R248W TP53_uc002gig.1_Missense_Mutation_p.R248W|TP53_uc002gih.1_Missense_Mutation_p.R248W|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116W|TP53_uc010cng.1_Missense_Mutation_p.R116W|TP53_uc002gii.1_Missense_Mutation_p.R116W|TP53_uc010cnh.1_Missense_Mutation_p.R248W|TP53_uc010cni.1_Missense_Mutation_p.R248W|TP53_uc002gij.2_Missense_Mutation_p.R248W|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R155W|TP53_uc002gio.2_Missense_Mutation_p.R116W NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 248 |Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity). OM_00948 R TP53 7157 broad.mit.edu 36 17 7518264 7518264 + Missense_Mutation SNP G A A RD_SOFT_TISSUE Phase_I g.chr17:7518264G>A uc002gim.2 - c.742C>T c.(742-744)CGG>TGG p.R248W TP53_uc002gig.1_Missense_Mutation_p.R248W|TP53_uc002gih.1_Missense_Mutation_p.R248W|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116W|TP53_uc010cng.1_Missense_Mutation_p.R116W|TP53_uc002gii.1_Missense_Mutation_p.R116W|TP53_uc010cnh.1_Missense_Mutation_p.R248W|TP53_uc010cni.1_Missense_Mutation_p.R248W|TP53_uc002gij.2_Missense_Mutation_p.R248W|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R155W|TP53_uc002gio.2_Missense_Mutation_p.R116W NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 248 |Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity). OM_00948 R TP53 7157 broad.mit.edu 36 17 7518264 7518264 + Missense_Mutation SNP G A A LXF289_LUNG Phase_I g.chr17:7518264G>A uc002gim.2 - c.742C>T c.(742-744)CGG>TGG p.R248W TP53_uc002gig.1_Missense_Mutation_p.R248W|TP53_uc002gih.1_Missense_Mutation_p.R248W|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116W|TP53_uc010cng.1_Missense_Mutation_p.R116W|TP53_uc002gii.1_Missense_Mutation_p.R116W|TP53_uc010cnh.1_Missense_Mutation_p.R248W|TP53_uc010cni.1_Missense_Mutation_p.R248W|TP53_uc002gij.2_Missense_Mutation_p.R248W|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R155W|TP53_uc002gio.2_Missense_Mutation_p.R116W NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 248 |Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity). OM_00948 R TP53 7157 broad.mit.edu 36 17 7518264 7518264 + Missense_Mutation SNP G A A SET2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE Phase_I g.chr17:7518264G>A uc002gim.2 - c.742C>T c.(742-744)CGG>TGG p.R248W TP53_uc002gig.1_Missense_Mutation_p.R248W|TP53_uc002gih.1_Missense_Mutation_p.R248W|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116W|TP53_uc010cng.1_Missense_Mutation_p.R116W|TP53_uc002gii.1_Missense_Mutation_p.R116W|TP53_uc010cnh.1_Missense_Mutation_p.R248W|TP53_uc010cni.1_Missense_Mutation_p.R248W|TP53_uc002gij.2_Missense_Mutation_p.R248W|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R155W|TP53_uc002gio.2_Missense_Mutation_p.R116W NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 248 |Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity). OM_00948 R TP53 7157 broad.mit.edu 36 17 7518263 7518263 + Missense_Mutation SNP C T T rs11540652 by-hapmap TE6_OESOPHAGUS Phase_I g.chr17:7518263C>T uc002gim.2 - c.743G>A c.(742-744)CGG>CAG p.R248Q TP53_uc002gig.1_Missense_Mutation_p.R248Q|TP53_uc002gih.1_Missense_Mutation_p.R248Q|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116Q|TP53_uc010cng.1_Missense_Mutation_p.R116Q|TP53_uc002gii.1_Missense_Mutation_p.R116Q|TP53_uc010cnh.1_Missense_Mutation_p.R248Q|TP53_uc010cni.1_Missense_Mutation_p.R248Q|TP53_uc002gij.2_Missense_Mutation_p.R248Q|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R155Q|TP53_uc002gio.2_Missense_Mutation_p.R116Q NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 248 |Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity). OM_00949 R TP53 7157 broad.mit.edu 36 17 7518263 7518263 + Missense_Mutation SNP C T T rs11540652 by-hapmap SF295_CENTRAL_NERVOUS_SYSTEM Phase_I g.chr17:7518263C>T uc002gim.2 - c.743G>A c.(742-744)CGG>CAG p.R248Q TP53_uc002gig.1_Missense_Mutation_p.R248Q|TP53_uc002gih.1_Missense_Mutation_p.R248Q|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116Q|TP53_uc010cng.1_Missense_Mutation_p.R116Q|TP53_uc002gii.1_Missense_Mutation_p.R116Q|TP53_uc010cnh.1_Missense_Mutation_p.R248Q|TP53_uc010cni.1_Missense_Mutation_p.R248Q|TP53_uc002gij.2_Missense_Mutation_p.R248Q|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R155Q|TP53_uc002gio.2_Missense_Mutation_p.R116Q NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 248 |Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity). OM_00949 R TP53 7157 broad.mit.edu 36 17 7518263 7518263 + Missense_Mutation SNP C T T rs11540652 by-hapmap ONCODG1_OVARY Phase_I g.chr17:7518263C>T uc002gim.2 - c.743G>A c.(742-744)CGG>CAG p.R248Q TP53_uc002gig.1_Missense_Mutation_p.R248Q|TP53_uc002gih.1_Missense_Mutation_p.R248Q|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116Q|TP53_uc010cng.1_Missense_Mutation_p.R116Q|TP53_uc002gii.1_Missense_Mutation_p.R116Q|TP53_uc010cnh.1_Missense_Mutation_p.R248Q|TP53_uc010cni.1_Missense_Mutation_p.R248Q|TP53_uc002gij.2_Missense_Mutation_p.R248Q|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R155Q|TP53_uc002gio.2_Missense_Mutation_p.R116Q NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 248 |Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity). OM_00949 R TP53 7157 broad.mit.edu 36 17 7518263 7518263 + Missense_Mutation SNP C T T rs11540652 by-hapmap NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE Phase_I g.chr17:7518263C>T uc002gim.2 - c.743G>A c.(742-744)CGG>CAG p.R248Q TP53_uc002gig.1_Missense_Mutation_p.R248Q|TP53_uc002gih.1_Missense_Mutation_p.R248Q|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116Q|TP53_uc010cng.1_Missense_Mutation_p.R116Q|TP53_uc002gii.1_Missense_Mutation_p.R116Q|TP53_uc010cnh.1_Missense_Mutation_p.R248Q|TP53_uc010cni.1_Missense_Mutation_p.R248Q|TP53_uc002gij.2_Missense_Mutation_p.R248Q|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R155Q|TP53_uc002gio.2_Missense_Mutation_p.R116Q NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 248 |Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity). OM_00949 R TP53 7157 broad.mit.edu 36 17 7518263 7518263 + Missense_Mutation SNP C T T rs11540652 by-hapmap P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE Phase_I g.chr17:7518263C>T uc002gim.2 - c.743G>A c.(742-744)CGG>CAG p.R248Q TP53_uc002gig.1_Missense_Mutation_p.R248Q|TP53_uc002gih.1_Missense_Mutation_p.R248Q|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116Q|TP53_uc010cng.1_Missense_Mutation_p.R116Q|TP53_uc002gii.1_Missense_Mutation_p.R116Q|TP53_uc010cnh.1_Missense_Mutation_p.R248Q|TP53_uc010cni.1_Missense_Mutation_p.R248Q|TP53_uc002gij.2_Missense_Mutation_p.R248Q|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R155Q|TP53_uc002gio.2_Missense_Mutation_p.R116Q NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 248 |Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity). OM_00949 R TP53 7157 broad.mit.edu 36 17 7518263 7518263 + Missense_Mutation SNP C T T rs11540652 by-hapmap SKUT1_SOFT_TISSUE Phase_I g.chr17:7518263C>T uc002gim.2 - c.743G>A c.(742-744)CGG>CAG p.R248Q TP53_uc002gig.1_Missense_Mutation_p.R248Q|TP53_uc002gih.1_Missense_Mutation_p.R248Q|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116Q|TP53_uc010cng.1_Missense_Mutation_p.R116Q|TP53_uc002gii.1_Missense_Mutation_p.R116Q|TP53_uc010cnh.1_Missense_Mutation_p.R248Q|TP53_uc010cni.1_Missense_Mutation_p.R248Q|TP53_uc002gij.2_Missense_Mutation_p.R248Q|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R155Q|TP53_uc002gio.2_Missense_Mutation_p.R116Q NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 248 |Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity). OM_00949 R TP53 7157 broad.mit.edu 36 17 7518263 7518263 + Missense_Mutation SNP C T T rs11540652 by-hapmap SW1463_LARGE_INTESTINE Phase_I g.chr17:7518263C>T uc002gim.2 - c.743G>A c.(742-744)CGG>CAG p.R248Q TP53_uc002gig.1_Missense_Mutation_p.R248Q|TP53_uc002gih.1_Missense_Mutation_p.R248Q|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116Q|TP53_uc010cng.1_Missense_Mutation_p.R116Q|TP53_uc002gii.1_Missense_Mutation_p.R116Q|TP53_uc010cnh.1_Missense_Mutation_p.R248Q|TP53_uc010cni.1_Missense_Mutation_p.R248Q|TP53_uc002gij.2_Missense_Mutation_p.R248Q|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R155Q|TP53_uc002gio.2_Missense_Mutation_p.R116Q NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 248 |Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity). OM_00949 R TP53 7157 broad.mit.edu 36 17 7518263 7518263 + Missense_Mutation SNP C T T rs11540652 by-hapmap HSC4_UPPER_AERODIGESTIVE_TRACT Phase_I g.chr17:7518263C>T uc002gim.2 - c.743G>A c.(742-744)CGG>CAG p.R248Q TP53_uc002gig.1_Missense_Mutation_p.R248Q|TP53_uc002gih.1_Missense_Mutation_p.R248Q|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116Q|TP53_uc010cng.1_Missense_Mutation_p.R116Q|TP53_uc002gii.1_Missense_Mutation_p.R116Q|TP53_uc010cnh.1_Missense_Mutation_p.R248Q|TP53_uc010cni.1_Missense_Mutation_p.R248Q|TP53_uc002gij.2_Missense_Mutation_p.R248Q|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R155Q|TP53_uc002gio.2_Missense_Mutation_p.R116Q NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 248 |Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity). OM_00949 R TP53 7157 broad.mit.edu 36 17 7518263 7518263 + Missense_Mutation SNP C T T rs11540652 by-hapmap PC14_LUNG Phase_I g.chr17:7518263C>T uc002gim.2 - c.743G>A c.(742-744)CGG>CAG p.R248Q TP53_uc002gig.1_Missense_Mutation_p.R248Q|TP53_uc002gih.1_Missense_Mutation_p.R248Q|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116Q|TP53_uc010cng.1_Missense_Mutation_p.R116Q|TP53_uc002gii.1_Missense_Mutation_p.R116Q|TP53_uc010cnh.1_Missense_Mutation_p.R248Q|TP53_uc010cni.1_Missense_Mutation_p.R248Q|TP53_uc002gij.2_Missense_Mutation_p.R248Q|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R155Q|TP53_uc002gio.2_Missense_Mutation_p.R116Q NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 248 |Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity). OM_00949 R TP53 7157 broad.mit.edu 36 17 7518263 7518263 + Missense_Mutation SNP C T T rs11540652 by-hapmap CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE Phase_I g.chr17:7518263C>T uc002gim.2 - c.743G>A c.(742-744)CGG>CAG p.R248Q TP53_uc002gig.1_Missense_Mutation_p.R248Q|TP53_uc002gih.1_Missense_Mutation_p.R248Q|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116Q|TP53_uc010cng.1_Missense_Mutation_p.R116Q|TP53_uc002gii.1_Missense_Mutation_p.R116Q|TP53_uc010cnh.1_Missense_Mutation_p.R248Q|TP53_uc010cni.1_Missense_Mutation_p.R248Q|TP53_uc002gij.2_Missense_Mutation_p.R248Q|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R155Q|TP53_uc002gio.2_Missense_Mutation_p.R116Q NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 248 |Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity). OM_00949 R TP53 7157 broad.mit.edu 36 17 7518263 7518263 + Missense_Mutation SNP C T T rs11540652 by-hapmap SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE Phase_I g.chr17:7518263C>T uc002gim.2 - c.743G>A c.(742-744)CGG>CAG p.R248Q TP53_uc002gig.1_Missense_Mutation_p.R248Q|TP53_uc002gih.1_Missense_Mutation_p.R248Q|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116Q|TP53_uc010cng.1_Missense_Mutation_p.R116Q|TP53_uc002gii.1_Missense_Mutation_p.R116Q|TP53_uc010cnh.1_Missense_Mutation_p.R248Q|TP53_uc010cni.1_Missense_Mutation_p.R248Q|TP53_uc002gij.2_Missense_Mutation_p.R248Q|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R155Q|TP53_uc002gio.2_Missense_Mutation_p.R116Q NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 248 |Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity). OM_00949 R TP53 7157 broad.mit.edu 36 17 7518263 7518263 + Missense_Mutation SNP C T T rs11540652 by-hapmap RT112_URINARY_TRACT Phase_I g.chr17:7518263C>T uc002gim.2 - c.743G>A c.(742-744)CGG>CAG p.R248Q TP53_uc002gig.1_Missense_Mutation_p.R248Q|TP53_uc002gih.1_Missense_Mutation_p.R248Q|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116Q|TP53_uc010cng.1_Missense_Mutation_p.R116Q|TP53_uc002gii.1_Missense_Mutation_p.R116Q|TP53_uc010cnh.1_Missense_Mutation_p.R248Q|TP53_uc010cni.1_Missense_Mutation_p.R248Q|TP53_uc002gij.2_Missense_Mutation_p.R248Q|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R155Q|TP53_uc002gio.2_Missense_Mutation_p.R116Q NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 248 |Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity). OM_00949 R TP53 7157 broad.mit.edu 36 17 7518263 7518263 + Missense_Mutation SNP C T T rs11540652 by-hapmap HCC70_BREAST Phase_I g.chr17:7518263C>T uc002gim.2 - c.743G>A c.(742-744)CGG>CAG p.R248Q TP53_uc002gig.1_Missense_Mutation_p.R248Q|TP53_uc002gih.1_Missense_Mutation_p.R248Q|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116Q|TP53_uc010cng.1_Missense_Mutation_p.R116Q|TP53_uc002gii.1_Missense_Mutation_p.R116Q|TP53_uc010cnh.1_Missense_Mutation_p.R248Q|TP53_uc010cni.1_Missense_Mutation_p.R248Q|TP53_uc002gij.2_Missense_Mutation_p.R248Q|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R155Q|TP53_uc002gio.2_Missense_Mutation_p.R116Q NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 248 |Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity). OM_00949 R TP53 7157 broad.mit.edu 36 17 7518263 7518263 + Missense_Mutation SNP C T T rs11540652 by-hapmap PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE Phase_I g.chr17:7518263C>T uc002gim.2 - c.743G>A c.(742-744)CGG>CAG p.R248Q TP53_uc002gig.1_Missense_Mutation_p.R248Q|TP53_uc002gih.1_Missense_Mutation_p.R248Q|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116Q|TP53_uc010cng.1_Missense_Mutation_p.R116Q|TP53_uc002gii.1_Missense_Mutation_p.R116Q|TP53_uc010cnh.1_Missense_Mutation_p.R248Q|TP53_uc010cni.1_Missense_Mutation_p.R248Q|TP53_uc002gij.2_Missense_Mutation_p.R248Q|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R155Q|TP53_uc002gio.2_Missense_Mutation_p.R116Q NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 248 |Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity). OM_00949 R TP53 7157 broad.mit.edu 36 17 7518263 7518263 + Missense_Mutation SNP C T T rs11540652 by-hapmap NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE Phase_I g.chr17:7518263C>T uc002gim.2 - c.743G>A c.(742-744)CGG>CAG p.R248Q TP53_uc002gig.1_Missense_Mutation_p.R248Q|TP53_uc002gih.1_Missense_Mutation_p.R248Q|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116Q|TP53_uc010cng.1_Missense_Mutation_p.R116Q|TP53_uc002gii.1_Missense_Mutation_p.R116Q|TP53_uc010cnh.1_Missense_Mutation_p.R248Q|TP53_uc010cni.1_Missense_Mutation_p.R248Q|TP53_uc002gij.2_Missense_Mutation_p.R248Q|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R155Q|TP53_uc002gio.2_Missense_Mutation_p.R116Q NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 248 |Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity). OM_00949 R TP53 7157 broad.mit.edu 36 17 7518263 7518263 + Missense_Mutation SNP C T T rs11540652 by-hapmap EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE Phase_I g.chr17:7518263C>T uc002gim.2 - c.743G>A c.(742-744)CGG>CAG p.R248Q TP53_uc002gig.1_Missense_Mutation_p.R248Q|TP53_uc002gih.1_Missense_Mutation_p.R248Q|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116Q|TP53_uc010cng.1_Missense_Mutation_p.R116Q|TP53_uc002gii.1_Missense_Mutation_p.R116Q|TP53_uc010cnh.1_Missense_Mutation_p.R248Q|TP53_uc010cni.1_Missense_Mutation_p.R248Q|TP53_uc002gij.2_Missense_Mutation_p.R248Q|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R155Q|TP53_uc002gio.2_Missense_Mutation_p.R116Q NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 248 |Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity). OM_00949 R TP53 7157 broad.mit.edu 36 17 7518263 7518263 + Missense_Mutation SNP C T T rs11540652 by-hapmap NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE Phase_I g.chr17:7518263C>T uc002gim.2 - c.743G>A c.(742-744)CGG>CAG p.R248Q TP53_uc002gig.1_Missense_Mutation_p.R248Q|TP53_uc002gih.1_Missense_Mutation_p.R248Q|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116Q|TP53_uc010cng.1_Missense_Mutation_p.R116Q|TP53_uc002gii.1_Missense_Mutation_p.R116Q|TP53_uc010cnh.1_Missense_Mutation_p.R248Q|TP53_uc010cni.1_Missense_Mutation_p.R248Q|TP53_uc002gij.2_Missense_Mutation_p.R248Q|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R155Q|TP53_uc002gio.2_Missense_Mutation_p.R116Q NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 248 |Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity). OM_00949 R TP53 7157 broad.mit.edu 36 17 7518263 7518263 + Missense_Mutation SNP C T T rs11540652 by-hapmap HS683_CENTRAL_NERVOUS_SYSTEM Phase_I g.chr17:7518263C>T uc002gim.2 - c.743G>A c.(742-744)CGG>CAG p.R248Q TP53_uc002gig.1_Missense_Mutation_p.R248Q|TP53_uc002gih.1_Missense_Mutation_p.R248Q|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116Q|TP53_uc010cng.1_Missense_Mutation_p.R116Q|TP53_uc002gii.1_Missense_Mutation_p.R116Q|TP53_uc010cnh.1_Missense_Mutation_p.R248Q|TP53_uc010cni.1_Missense_Mutation_p.R248Q|TP53_uc002gij.2_Missense_Mutation_p.R248Q|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R155Q|TP53_uc002gio.2_Missense_Mutation_p.R116Q NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 248 |Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity). OM_00949 R TP53 7157 broad.mit.edu 36 17 7518263 7518263 + Missense_Mutation SNP C T T rs11540652 by-hapmap DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE Phase_I g.chr17:7518263C>T uc002gim.2 - c.743G>A c.(742-744)CGG>CAG p.R248Q TP53_uc002gig.1_Missense_Mutation_p.R248Q|TP53_uc002gih.1_Missense_Mutation_p.R248Q|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116Q|TP53_uc010cng.1_Missense_Mutation_p.R116Q|TP53_uc002gii.1_Missense_Mutation_p.R116Q|TP53_uc010cnh.1_Missense_Mutation_p.R248Q|TP53_uc010cni.1_Missense_Mutation_p.R248Q|TP53_uc002gij.2_Missense_Mutation_p.R248Q|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R155Q|TP53_uc002gio.2_Missense_Mutation_p.R116Q NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 248 |Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity). OM_00949 R TP53 7157 broad.mit.edu 36 17 7518263 7518263 + Missense_Mutation SNP C T T rs11540652 by-hapmap 639V_URINARY_TRACT Phase_I g.chr17:7518263C>T uc002gim.2 - c.743G>A c.(742-744)CGG>CAG p.R248Q TP53_uc002gig.1_Missense_Mutation_p.R248Q|TP53_uc002gih.1_Missense_Mutation_p.R248Q|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116Q|TP53_uc010cng.1_Missense_Mutation_p.R116Q|TP53_uc002gii.1_Missense_Mutation_p.R116Q|TP53_uc010cnh.1_Missense_Mutation_p.R248Q|TP53_uc010cni.1_Missense_Mutation_p.R248Q|TP53_uc002gij.2_Missense_Mutation_p.R248Q|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R155Q|TP53_uc002gio.2_Missense_Mutation_p.R116Q NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 248 |Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity). OM_00949 R TP53 7157 broad.mit.edu 36 17 7518263 7518263 + Missense_Mutation SNP C T T rs11540652 by-hapmap PANC0203_PANCREAS Phase_I g.chr17:7518263C>T uc002gim.2 - c.743G>A c.(742-744)CGG>CAG p.R248Q TP53_uc002gig.1_Missense_Mutation_p.R248Q|TP53_uc002gih.1_Missense_Mutation_p.R248Q|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116Q|TP53_uc010cng.1_Missense_Mutation_p.R116Q|TP53_uc002gii.1_Missense_Mutation_p.R116Q|TP53_uc010cnh.1_Missense_Mutation_p.R248Q|TP53_uc010cni.1_Missense_Mutation_p.R248Q|TP53_uc002gij.2_Missense_Mutation_p.R248Q|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R155Q|TP53_uc002gio.2_Missense_Mutation_p.R116Q NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 248 |Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity). OM_00949 R TP53 7157 broad.mit.edu 36 17 7518263 7518263 + Missense_Mutation SNP C T T rs11540652 by-hapmap NCIH211_LUNG Phase_I g.chr17:7518263C>T uc002gim.2 - c.743G>A c.(742-744)CGG>CAG p.R248Q TP53_uc002gig.1_Missense_Mutation_p.R248Q|TP53_uc002gih.1_Missense_Mutation_p.R248Q|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116Q|TP53_uc010cng.1_Missense_Mutation_p.R116Q|TP53_uc002gii.1_Missense_Mutation_p.R116Q|TP53_uc010cnh.1_Missense_Mutation_p.R248Q|TP53_uc010cni.1_Missense_Mutation_p.R248Q|TP53_uc002gij.2_Missense_Mutation_p.R248Q|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R155Q|TP53_uc002gio.2_Missense_Mutation_p.R116Q NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 248 |Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity). OM_00949 R TP53 7157 broad.mit.edu 36 17 7518263 7518263 + Missense_Mutation SNP C T T rs11540652 by-hapmap KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE Phase_I g.chr17:7518263C>T uc002gim.2 - c.743G>A c.(742-744)CGG>CAG p.R248Q TP53_uc002gig.1_Missense_Mutation_p.R248Q|TP53_uc002gih.1_Missense_Mutation_p.R248Q|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116Q|TP53_uc010cng.1_Missense_Mutation_p.R116Q|TP53_uc002gii.1_Missense_Mutation_p.R116Q|TP53_uc010cnh.1_Missense_Mutation_p.R248Q|TP53_uc010cni.1_Missense_Mutation_p.R248Q|TP53_uc002gij.2_Missense_Mutation_p.R248Q|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R155Q|TP53_uc002gio.2_Missense_Mutation_p.R116Q NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 248 |Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity). OM_00949 R TP53 7157 broad.mit.edu 36 17 7518263 7518263 + Missense_Mutation SNP C T T rs11540652 by-hapmap COLO699_LUNG Phase_I g.chr17:7518263C>T uc002gim.2 - c.743G>A c.(742-744)CGG>CAG p.R248Q TP53_uc002gig.1_Missense_Mutation_p.R248Q|TP53_uc002gih.1_Missense_Mutation_p.R248Q|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116Q|TP53_uc010cng.1_Missense_Mutation_p.R116Q|TP53_uc002gii.1_Missense_Mutation_p.R116Q|TP53_uc010cnh.1_Missense_Mutation_p.R248Q|TP53_uc010cni.1_Missense_Mutation_p.R248Q|TP53_uc002gij.2_Missense_Mutation_p.R248Q|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R155Q|TP53_uc002gio.2_Missense_Mutation_p.R116Q NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 248 |Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity). OM_00949 R TP53 7157 broad.mit.edu 36 17 7518263 7518263 + Missense_Mutation SNP C T T rs11540652 by-hapmap CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE Phase_I g.chr17:7518263C>T uc002gim.2 - c.743G>A c.(742-744)CGG>CAG p.R248Q TP53_uc002gig.1_Missense_Mutation_p.R248Q|TP53_uc002gih.1_Missense_Mutation_p.R248Q|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116Q|TP53_uc010cng.1_Missense_Mutation_p.R116Q|TP53_uc002gii.1_Missense_Mutation_p.R116Q|TP53_uc010cnh.1_Missense_Mutation_p.R248Q|TP53_uc010cni.1_Missense_Mutation_p.R248Q|TP53_uc002gij.2_Missense_Mutation_p.R248Q|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R155Q|TP53_uc002gio.2_Missense_Mutation_p.R116Q NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 248 |Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity). OM_00949 R TP53 7157 broad.mit.edu 36 17 7518263 7518263 + Missense_Mutation SNP C T T rs11540652 by-hapmap NCCSTCK140_STOMACH Phase_I g.chr17:7518263C>T uc002gim.2 - c.743G>A c.(742-744)CGG>CAG p.R248Q TP53_uc002gig.1_Missense_Mutation_p.R248Q|TP53_uc002gih.1_Missense_Mutation_p.R248Q|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116Q|TP53_uc010cng.1_Missense_Mutation_p.R116Q|TP53_uc002gii.1_Missense_Mutation_p.R116Q|TP53_uc010cnh.1_Missense_Mutation_p.R248Q|TP53_uc010cni.1_Missense_Mutation_p.R248Q|TP53_uc002gij.2_Missense_Mutation_p.R248Q|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R155Q|TP53_uc002gio.2_Missense_Mutation_p.R116Q NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 248 |Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity). OM_00949 R TP53 7157 broad.mit.edu 36 17 7518263 7518263 + Missense_Mutation SNP C T T rs11540652 by-hapmap HEC1B_ENDOMETRIUM Phase_I g.chr17:7518263C>T uc002gim.2 - c.743G>A c.(742-744)CGG>CAG p.R248Q TP53_uc002gig.1_Missense_Mutation_p.R248Q|TP53_uc002gih.1_Missense_Mutation_p.R248Q|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116Q|TP53_uc010cng.1_Missense_Mutation_p.R116Q|TP53_uc002gii.1_Missense_Mutation_p.R116Q|TP53_uc010cnh.1_Missense_Mutation_p.R248Q|TP53_uc010cni.1_Missense_Mutation_p.R248Q|TP53_uc002gij.2_Missense_Mutation_p.R248Q|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R155Q|TP53_uc002gio.2_Missense_Mutation_p.R116Q NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 248 |Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity). OM_00949 R TP53 7157 broad.mit.edu 36 17 7518263 7518263 + Missense_Mutation SNP C T T rs11540652 by-hapmap KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE Phase_I g.chr17:7518263C>T uc002gim.2 - c.743G>A c.(742-744)CGG>CAG p.R248Q TP53_uc002gig.1_Missense_Mutation_p.R248Q|TP53_uc002gih.1_Missense_Mutation_p.R248Q|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116Q|TP53_uc010cng.1_Missense_Mutation_p.R116Q|TP53_uc002gii.1_Missense_Mutation_p.R116Q|TP53_uc010cnh.1_Missense_Mutation_p.R248Q|TP53_uc010cni.1_Missense_Mutation_p.R248Q|TP53_uc002gij.2_Missense_Mutation_p.R248Q|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R155Q|TP53_uc002gio.2_Missense_Mutation_p.R116Q NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 248 |Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity). OM_00949 R TP53 7157 broad.mit.edu 36 17 7518263 7518263 + Missense_Mutation SNP C T T rs11540652 by-hapmap KYSE150_OESOPHAGUS Phase_I g.chr17:7518263C>T uc002gim.2 - c.743G>A c.(742-744)CGG>CAG p.R248Q TP53_uc002gig.1_Missense_Mutation_p.R248Q|TP53_uc002gih.1_Missense_Mutation_p.R248Q|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116Q|TP53_uc010cng.1_Missense_Mutation_p.R116Q|TP53_uc002gii.1_Missense_Mutation_p.R116Q|TP53_uc010cnh.1_Missense_Mutation_p.R248Q|TP53_uc010cni.1_Missense_Mutation_p.R248Q|TP53_uc002gij.2_Missense_Mutation_p.R248Q|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R155Q|TP53_uc002gio.2_Missense_Mutation_p.R116Q NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 248 |Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity). OM_00949 R TP53 7157 broad.mit.edu 36 17 7518263 7518263 + Missense_Mutation SNP C T T rs11540652 by-hapmap NIHOVCAR3_OVARY Phase_I g.chr17:7518263C>T uc002gim.2 - c.743G>A c.(742-744)CGG>CAG p.R248Q TP53_uc002gig.1_Missense_Mutation_p.R248Q|TP53_uc002gih.1_Missense_Mutation_p.R248Q|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116Q|TP53_uc010cng.1_Missense_Mutation_p.R116Q|TP53_uc002gii.1_Missense_Mutation_p.R116Q|TP53_uc010cnh.1_Missense_Mutation_p.R248Q|TP53_uc010cni.1_Missense_Mutation_p.R248Q|TP53_uc002gij.2_Missense_Mutation_p.R248Q|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R155Q|TP53_uc002gio.2_Missense_Mutation_p.R116Q NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 248 |Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity). OM_00949 R TP53 7157 broad.mit.edu 36 17 7518263 7518263 + Missense_Mutation SNP C T T rs11540652 by-hapmap TALL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE Phase_I g.chr17:7518263C>T uc002gim.2 - c.743G>A c.(742-744)CGG>CAG p.R248Q TP53_uc002gig.1_Missense_Mutation_p.R248Q|TP53_uc002gih.1_Missense_Mutation_p.R248Q|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116Q|TP53_uc010cng.1_Missense_Mutation_p.R116Q|TP53_uc002gii.1_Missense_Mutation_p.R116Q|TP53_uc010cnh.1_Missense_Mutation_p.R248Q|TP53_uc010cni.1_Missense_Mutation_p.R248Q|TP53_uc002gij.2_Missense_Mutation_p.R248Q|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R155Q|TP53_uc002gio.2_Missense_Mutation_p.R116Q NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 248 |Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity). OM_00949 R TP53 7157 broad.mit.edu 36 17 7518263 7518263 + Missense_Mutation SNP C T T rs11540652 by-hapmap BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE Phase_I g.chr17:7518263C>T uc002gim.2 - c.743G>A c.(742-744)CGG>CAG p.R248Q TP53_uc002gig.1_Missense_Mutation_p.R248Q|TP53_uc002gih.1_Missense_Mutation_p.R248Q|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116Q|TP53_uc010cng.1_Missense_Mutation_p.R116Q|TP53_uc002gii.1_Missense_Mutation_p.R116Q|TP53_uc010cnh.1_Missense_Mutation_p.R248Q|TP53_uc010cni.1_Missense_Mutation_p.R248Q|TP53_uc002gij.2_Missense_Mutation_p.R248Q|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R155Q|TP53_uc002gio.2_Missense_Mutation_p.R116Q NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 248 |Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity). OM_00949 R TP53 7157 broad.mit.edu 36 17 7518263 7518263 + Missense_Mutation SNP C T T rs11540652 by-hapmap KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE Phase_I g.chr17:7518263C>T uc002gim.2 - c.743G>A c.(742-744)CGG>CAG p.R248Q TP53_uc002gig.1_Missense_Mutation_p.R248Q|TP53_uc002gih.1_Missense_Mutation_p.R248Q|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116Q|TP53_uc010cng.1_Missense_Mutation_p.R116Q|TP53_uc002gii.1_Missense_Mutation_p.R116Q|TP53_uc010cnh.1_Missense_Mutation_p.R248Q|TP53_uc010cni.1_Missense_Mutation_p.R248Q|TP53_uc002gij.2_Missense_Mutation_p.R248Q|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R155Q|TP53_uc002gio.2_Missense_Mutation_p.R116Q NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 248 |Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity). OM_00949 R TP53 7157 broad.mit.edu 36 17 7518263 7518263 + Missense_Mutation SNP C T T rs11540652 by-hapmap NCIN87_STOMACH Phase_I g.chr17:7518263C>T uc002gim.2 - c.743G>A c.(742-744)CGG>CAG p.R248Q TP53_uc002gig.1_Missense_Mutation_p.R248Q|TP53_uc002gih.1_Missense_Mutation_p.R248Q|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116Q|TP53_uc010cng.1_Missense_Mutation_p.R116Q|TP53_uc002gii.1_Missense_Mutation_p.R116Q|TP53_uc010cnh.1_Missense_Mutation_p.R248Q|TP53_uc010cni.1_Missense_Mutation_p.R248Q|TP53_uc002gij.2_Missense_Mutation_p.R248Q|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R155Q|TP53_uc002gio.2_Missense_Mutation_p.R116Q NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 248 |Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity). OM_00949 R TP53 7157 broad.mit.edu 36 17 7518263 7518263 + Missense_Mutation SNP C T T rs11540652 by-hapmap SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE Phase_I g.chr17:7518263C>T uc002gim.2 - c.743G>A c.(742-744)CGG>CAG p.R248Q TP53_uc002gig.1_Missense_Mutation_p.R248Q|TP53_uc002gih.1_Missense_Mutation_p.R248Q|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116Q|TP53_uc010cng.1_Missense_Mutation_p.R116Q|TP53_uc002gii.1_Missense_Mutation_p.R116Q|TP53_uc010cnh.1_Missense_Mutation_p.R248Q|TP53_uc010cni.1_Missense_Mutation_p.R248Q|TP53_uc002gij.2_Missense_Mutation_p.R248Q|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R155Q|TP53_uc002gio.2_Missense_Mutation_p.R116Q NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 248 |Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity). OM_00949 R TP53 7157 broad.mit.edu 36 17 7518263 7518263 + Missense_Mutation SNP C T T rs11540652 by-hapmap HEC1A_ENDOMETRIUM Phase_I g.chr17:7518263C>T uc002gim.2 - c.743G>A c.(742-744)CGG>CAG p.R248Q TP53_uc002gig.1_Missense_Mutation_p.R248Q|TP53_uc002gih.1_Missense_Mutation_p.R248Q|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116Q|TP53_uc010cng.1_Missense_Mutation_p.R116Q|TP53_uc002gii.1_Missense_Mutation_p.R116Q|TP53_uc010cnh.1_Missense_Mutation_p.R248Q|TP53_uc010cni.1_Missense_Mutation_p.R248Q|TP53_uc002gij.2_Missense_Mutation_p.R248Q|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R155Q|TP53_uc002gio.2_Missense_Mutation_p.R116Q NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 248 |Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity). OM_00949 R TP53 7157 broad.mit.edu 36 17 7518263 7518263 + Missense_Mutation SNP C T T rs11540652 by-hapmap WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE Phase_I g.chr17:7518263C>T uc002gim.2 - c.743G>A c.(742-744)CGG>CAG p.R248Q TP53_uc002gig.1_Missense_Mutation_p.R248Q|TP53_uc002gih.1_Missense_Mutation_p.R248Q|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116Q|TP53_uc010cng.1_Missense_Mutation_p.R116Q|TP53_uc002gii.1_Missense_Mutation_p.R116Q|TP53_uc010cnh.1_Missense_Mutation_p.R248Q|TP53_uc010cni.1_Missense_Mutation_p.R248Q|TP53_uc002gij.2_Missense_Mutation_p.R248Q|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R155Q|TP53_uc002gio.2_Missense_Mutation_p.R116Q NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 248 |Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity). OM_00949 R TP53 7157 broad.mit.edu 36 17 7518263 7518263 + Missense_Mutation SNP C T T rs11540652 by-hapmap NUDUL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE Phase_I g.chr17:7518263C>T uc002gim.2 - c.743G>A c.(742-744)CGG>CAG p.R248Q TP53_uc002gig.1_Missense_Mutation_p.R248Q|TP53_uc002gih.1_Missense_Mutation_p.R248Q|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116Q|TP53_uc010cng.1_Missense_Mutation_p.R116Q|TP53_uc002gii.1_Missense_Mutation_p.R116Q|TP53_uc010cnh.1_Missense_Mutation_p.R248Q|TP53_uc010cni.1_Missense_Mutation_p.R248Q|TP53_uc002gij.2_Missense_Mutation_p.R248Q|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R155Q|TP53_uc002gio.2_Missense_Mutation_p.R116Q NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 248 |Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity). OM_00949 R TP53 7157 broad.mit.edu 36 17 7518263 7518263 + Missense_Mutation SNP C T T rs11540652 by-hapmap MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE Phase_I g.chr17:7518263C>T uc002gim.2 - c.743G>A c.(742-744)CGG>CAG p.R248Q TP53_uc002gig.1_Missense_Mutation_p.R248Q|TP53_uc002gih.1_Missense_Mutation_p.R248Q|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116Q|TP53_uc010cng.1_Missense_Mutation_p.R116Q|TP53_uc002gii.1_Missense_Mutation_p.R116Q|TP53_uc010cnh.1_Missense_Mutation_p.R248Q|TP53_uc010cni.1_Missense_Mutation_p.R248Q|TP53_uc002gij.2_Missense_Mutation_p.R248Q|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R155Q|TP53_uc002gio.2_Missense_Mutation_p.R116Q NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 248 |Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity). OM_00949 R TP53 7157 broad.mit.edu 36 17 7518263 7518263 + Missense_Mutation SNP C T T rs11540652 by-hapmap PECAPJ15_UPPER_AERODIGESTIVE_TRACT Phase_I g.chr17:7518263C>T uc002gim.2 - c.743G>A c.(742-744)CGG>CAG p.R248Q TP53_uc002gig.1_Missense_Mutation_p.R248Q|TP53_uc002gih.1_Missense_Mutation_p.R248Q|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116Q|TP53_uc010cng.1_Missense_Mutation_p.R116Q|TP53_uc002gii.1_Missense_Mutation_p.R116Q|TP53_uc010cnh.1_Missense_Mutation_p.R248Q|TP53_uc010cni.1_Missense_Mutation_p.R248Q|TP53_uc002gij.2_Missense_Mutation_p.R248Q|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R155Q|TP53_uc002gio.2_Missense_Mutation_p.R116Q NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 248 |Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity). OM_00949 R TP53 7157 broad.mit.edu 36 17 7518263 7518263 + Missense_Mutation SNP C T T rs11540652 by-hapmap HCC1143_BREAST Phase_I g.chr17:7518263C>T uc002gim.2 - c.743G>A c.(742-744)CGG>CAG p.R248Q TP53_uc002gig.1_Missense_Mutation_p.R248Q|TP53_uc002gih.1_Missense_Mutation_p.R248Q|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116Q|TP53_uc010cng.1_Missense_Mutation_p.R116Q|TP53_uc002gii.1_Missense_Mutation_p.R116Q|TP53_uc010cnh.1_Missense_Mutation_p.R248Q|TP53_uc010cni.1_Missense_Mutation_p.R248Q|TP53_uc002gij.2_Missense_Mutation_p.R248Q|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R155Q|TP53_uc002gio.2_Missense_Mutation_p.R116Q NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 248 |Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity). OM_00949 R TP53 7157 broad.mit.edu 36 17 7518263 7518263 + Missense_Mutation SNP C T T rs11540652 by-hapmap DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE Phase_I g.chr17:7518263C>T uc002gim.2 - c.743G>A c.(742-744)CGG>CAG p.R248Q TP53_uc002gig.1_Missense_Mutation_p.R248Q|TP53_uc002gih.1_Missense_Mutation_p.R248Q|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116Q|TP53_uc010cng.1_Missense_Mutation_p.R116Q|TP53_uc002gii.1_Missense_Mutation_p.R116Q|TP53_uc010cnh.1_Missense_Mutation_p.R248Q|TP53_uc010cni.1_Missense_Mutation_p.R248Q|TP53_uc002gij.2_Missense_Mutation_p.R248Q|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R155Q|TP53_uc002gio.2_Missense_Mutation_p.R116Q NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 248 |Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity). OM_00949 R TP53 7157 broad.mit.edu 36 17 7518263 7518263 + Missense_Mutation SNP C T T rs11540652 by-hapmap CL40_LARGE_INTESTINE Phase_I g.chr17:7518263C>T uc002gim.2 - c.743G>A c.(742-744)CGG>CAG p.R248Q TP53_uc002gig.1_Missense_Mutation_p.R248Q|TP53_uc002gih.1_Missense_Mutation_p.R248Q|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116Q|TP53_uc010cng.1_Missense_Mutation_p.R116Q|TP53_uc002gii.1_Missense_Mutation_p.R116Q|TP53_uc010cnh.1_Missense_Mutation_p.R248Q|TP53_uc010cni.1_Missense_Mutation_p.R248Q|TP53_uc002gij.2_Missense_Mutation_p.R248Q|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R155Q|TP53_uc002gio.2_Missense_Mutation_p.R116Q NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 248 |Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity). OM_00949 R TP53 7157 broad.mit.edu 36 17 7518263 7518263 + Missense_Mutation SNP C T T rs11540652 by-hapmap PCM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE Phase_I g.chr17:7518263C>T uc002gim.2 - c.743G>A c.(742-744)CGG>CAG p.R248Q TP53_uc002gig.1_Missense_Mutation_p.R248Q|TP53_uc002gih.1_Missense_Mutation_p.R248Q|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116Q|TP53_uc010cng.1_Missense_Mutation_p.R116Q|TP53_uc002gii.1_Missense_Mutation_p.R116Q|TP53_uc010cnh.1_Missense_Mutation_p.R248Q|TP53_uc010cni.1_Missense_Mutation_p.R248Q|TP53_uc002gij.2_Missense_Mutation_p.R248Q|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R155Q|TP53_uc002gio.2_Missense_Mutation_p.R116Q NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 248 |Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity). OM_00949 R TP53 7157 broad.mit.edu 36 17 7517846 7517846 + Missense_Mutation SNP G A A TGBC11TKB_STOMACH Phase_I g.chr17:7517846G>A uc002gim.2 - c.817C>T c.(817-819)CGT>TGT p.R273C TP53_uc002gig.1_Intron|TP53_uc002gih.1_Missense_Mutation_p.R273C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R141C|TP53_uc010cng.1_Missense_Mutation_p.R141C|TP53_uc002gii.1_Missense_Mutation_p.R141C|TP53_uc010cnh.1_Missense_Mutation_p.R273C|TP53_uc010cni.1_Missense_Mutation_p.R273C|TP53_uc002gij.2_Missense_Mutation_p.R273C NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 273 Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). OM_00950 F TP53 7157 broad.mit.edu 36 17 7517846 7517846 + Missense_Mutation SNP G A A SW1710_URINARY_TRACT Phase_I g.chr17:7517846G>A uc002gim.2 - c.817C>T c.(817-819)CGT>TGT p.R273C TP53_uc002gig.1_Intron|TP53_uc002gih.1_Missense_Mutation_p.R273C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R141C|TP53_uc010cng.1_Missense_Mutation_p.R141C|TP53_uc002gii.1_Missense_Mutation_p.R141C|TP53_uc010cnh.1_Missense_Mutation_p.R273C|TP53_uc010cni.1_Missense_Mutation_p.R273C|TP53_uc002gij.2_Missense_Mutation_p.R273C NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 273 Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). OM_00950 F TP53 7157 broad.mit.edu 36 17 7517846 7517846 + Missense_Mutation SNP G A A 8305C_THYROID Phase_I g.chr17:7517846G>A uc002gim.2 - c.817C>T c.(817-819)CGT>TGT p.R273C TP53_uc002gig.1_Intron|TP53_uc002gih.1_Missense_Mutation_p.R273C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R141C|TP53_uc010cng.1_Missense_Mutation_p.R141C|TP53_uc002gii.1_Missense_Mutation_p.R141C|TP53_uc010cnh.1_Missense_Mutation_p.R273C|TP53_uc010cni.1_Missense_Mutation_p.R273C|TP53_uc002gij.2_Missense_Mutation_p.R273C NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 273 Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). OM_00950 F TP53 7157 broad.mit.edu 36 17 7517846 7517846 + Missense_Mutation SNP G A A MFE319_ENDOMETRIUM Phase_I g.chr17:7517846G>A uc002gim.2 - c.817C>T c.(817-819)CGT>TGT p.R273C TP53_uc002gig.1_Intron|TP53_uc002gih.1_Missense_Mutation_p.R273C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R141C|TP53_uc010cng.1_Missense_Mutation_p.R141C|TP53_uc002gii.1_Missense_Mutation_p.R141C|TP53_uc010cnh.1_Missense_Mutation_p.R273C|TP53_uc010cni.1_Missense_Mutation_p.R273C|TP53_uc002gij.2_Missense_Mutation_p.R273C NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 273 Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). OM_00950 F TP53 7157 broad.mit.edu 36 17 7517846 7517846 + Missense_Mutation SNP G A A CL14_LARGE_INTESTINE Phase_I g.chr17:7517846G>A uc002gim.2 - c.817C>T c.(817-819)CGT>TGT p.R273C TP53_uc002gig.1_Intron|TP53_uc002gih.1_Missense_Mutation_p.R273C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R141C|TP53_uc010cng.1_Missense_Mutation_p.R141C|TP53_uc002gii.1_Missense_Mutation_p.R141C|TP53_uc010cnh.1_Missense_Mutation_p.R273C|TP53_uc010cni.1_Missense_Mutation_p.R273C|TP53_uc002gij.2_Missense_Mutation_p.R273C NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 273 Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). OM_00950 F TP53 7157 broad.mit.edu 36 17 7517846 7517846 + Missense_Mutation SNP G A A TT2609C02_THYROID Phase_I g.chr17:7517846G>A uc002gim.2 - c.817C>T c.(817-819)CGT>TGT p.R273C TP53_uc002gig.1_Intron|TP53_uc002gih.1_Missense_Mutation_p.R273C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R141C|TP53_uc010cng.1_Missense_Mutation_p.R141C|TP53_uc002gii.1_Missense_Mutation_p.R141C|TP53_uc010cnh.1_Missense_Mutation_p.R273C|TP53_uc010cni.1_Missense_Mutation_p.R273C|TP53_uc002gij.2_Missense_Mutation_p.R273C NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 273 Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). OM_00950 F TP53 7157 broad.mit.edu 36 17 7517846 7517846 + Missense_Mutation SNP G A A RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE Phase_I g.chr17:7517846G>A uc002gim.2 - c.817C>T c.(817-819)CGT>TGT p.R273C TP53_uc002gig.1_Intron|TP53_uc002gih.1_Missense_Mutation_p.R273C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R141C|TP53_uc010cng.1_Missense_Mutation_p.R141C|TP53_uc002gii.1_Missense_Mutation_p.R141C|TP53_uc010cnh.1_Missense_Mutation_p.R273C|TP53_uc010cni.1_Missense_Mutation_p.R273C|TP53_uc002gij.2_Missense_Mutation_p.R273C NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 273 Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). OM_00950 F TP53 7157 broad.mit.edu 36 17 7517846 7517846 + Missense_Mutation SNP G A A PANC0213_PANCREAS Phase_I g.chr17:7517846G>A uc002gim.2 - c.817C>T c.(817-819)CGT>TGT p.R273C TP53_uc002gig.1_Intron|TP53_uc002gih.1_Missense_Mutation_p.R273C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R141C|TP53_uc010cng.1_Missense_Mutation_p.R141C|TP53_uc002gii.1_Missense_Mutation_p.R141C|TP53_uc010cnh.1_Missense_Mutation_p.R273C|TP53_uc010cni.1_Missense_Mutation_p.R273C|TP53_uc002gij.2_Missense_Mutation_p.R273C NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 273 Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). OM_00950 F TP53 7157 broad.mit.edu 36 17 7517846 7517846 + Missense_Mutation SNP G A A KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE Phase_I g.chr17:7517846G>A uc002gim.2 - c.817C>T c.(817-819)CGT>TGT p.R273C TP53_uc002gig.1_Intron|TP53_uc002gih.1_Missense_Mutation_p.R273C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R141C|TP53_uc010cng.1_Missense_Mutation_p.R141C|TP53_uc002gii.1_Missense_Mutation_p.R141C|TP53_uc010cnh.1_Missense_Mutation_p.R273C|TP53_uc010cni.1_Missense_Mutation_p.R273C|TP53_uc002gij.2_Missense_Mutation_p.R273C NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 273 Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). OM_00950 F TP53 7157 broad.mit.edu 36 17 7517846 7517846 + Missense_Mutation SNP G A A PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE Phase_I g.chr17:7517846G>A uc002gim.2 - c.817C>T c.(817-819)CGT>TGT p.R273C TP53_uc002gig.1_Intron|TP53_uc002gih.1_Missense_Mutation_p.R273C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R141C|TP53_uc010cng.1_Missense_Mutation_p.R141C|TP53_uc002gii.1_Missense_Mutation_p.R141C|TP53_uc010cnh.1_Missense_Mutation_p.R273C|TP53_uc010cni.1_Missense_Mutation_p.R273C|TP53_uc002gij.2_Missense_Mutation_p.R273C NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 273 Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). OM_00950 F TP53 7157 broad.mit.edu 36 17 7517846 7517846 + Missense_Mutation SNP G A A SJRH30_SOFT_TISSUE Phase_I g.chr17:7517846G>A uc002gim.2 - c.817C>T c.(817-819)CGT>TGT p.R273C TP53_uc002gig.1_Intron|TP53_uc002gih.1_Missense_Mutation_p.R273C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R141C|TP53_uc010cng.1_Missense_Mutation_p.R141C|TP53_uc002gii.1_Missense_Mutation_p.R141C|TP53_uc010cnh.1_Missense_Mutation_p.R273C|TP53_uc010cni.1_Missense_Mutation_p.R273C|TP53_uc002gij.2_Missense_Mutation_p.R273C NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 273 Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). OM_00950 F TP53 7157 broad.mit.edu 36 17 7517846 7517846 + Missense_Mutation SNP G A A SH10TC_STOMACH Phase_I g.chr17:7517846G>A uc002gim.2 - c.817C>T c.(817-819)CGT>TGT p.R273C TP53_uc002gig.1_Intron|TP53_uc002gih.1_Missense_Mutation_p.R273C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R141C|TP53_uc010cng.1_Missense_Mutation_p.R141C|TP53_uc002gii.1_Missense_Mutation_p.R141C|TP53_uc010cnh.1_Missense_Mutation_p.R273C|TP53_uc010cni.1_Missense_Mutation_p.R273C|TP53_uc002gij.2_Missense_Mutation_p.R273C NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 273 Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). OM_00950 F TP53 7157 broad.mit.edu 36 17 7517846 7517846 + Missense_Mutation SNP G A A 8MGBA_CENTRAL_NERVOUS_SYSTEM Phase_I g.chr17:7517846G>A uc002gim.2 - c.817C>T c.(817-819)CGT>TGT p.R273C TP53_uc002gig.1_Intron|TP53_uc002gih.1_Missense_Mutation_p.R273C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R141C|TP53_uc010cng.1_Missense_Mutation_p.R141C|TP53_uc002gii.1_Missense_Mutation_p.R141C|TP53_uc010cnh.1_Missense_Mutation_p.R273C|TP53_uc010cni.1_Missense_Mutation_p.R273C|TP53_uc002gij.2_Missense_Mutation_p.R273C NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 273 Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). OM_00950 F TP53 7157 broad.mit.edu 36 17 7517846 7517846 + Missense_Mutation SNP G A A NCIH1048_LUNG Phase_I g.chr17:7517846G>A uc002gim.2 - c.817C>T c.(817-819)CGT>TGT p.R273C TP53_uc002gig.1_Intron|TP53_uc002gih.1_Missense_Mutation_p.R273C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R141C|TP53_uc010cng.1_Missense_Mutation_p.R141C|TP53_uc002gii.1_Missense_Mutation_p.R141C|TP53_uc010cnh.1_Missense_Mutation_p.R273C|TP53_uc010cni.1_Missense_Mutation_p.R273C|TP53_uc002gij.2_Missense_Mutation_p.R273C NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 273 Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). OM_00950 F TP53 7157 broad.mit.edu 36 17 7517846 7517846 + Missense_Mutation SNP G A A SW1783_CENTRAL_NERVOUS_SYSTEM Phase_I g.chr17:7517846G>A uc002gim.2 - c.817C>T c.(817-819)CGT>TGT p.R273C TP53_uc002gig.1_Intron|TP53_uc002gih.1_Missense_Mutation_p.R273C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R141C|TP53_uc010cng.1_Missense_Mutation_p.R141C|TP53_uc002gii.1_Missense_Mutation_p.R141C|TP53_uc010cnh.1_Missense_Mutation_p.R273C|TP53_uc010cni.1_Missense_Mutation_p.R273C|TP53_uc002gij.2_Missense_Mutation_p.R273C NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 273 Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). OM_00950 F TP53 7157 broad.mit.edu 36 17 7517846 7517846 + Missense_Mutation SNP G A A SNU1196_BILIARY_TRACT Phase_I g.chr17:7517846G>A uc002gim.2 - c.817C>T c.(817-819)CGT>TGT p.R273C TP53_uc002gig.1_Intron|TP53_uc002gih.1_Missense_Mutation_p.R273C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R141C|TP53_uc010cng.1_Missense_Mutation_p.R141C|TP53_uc002gii.1_Missense_Mutation_p.R141C|TP53_uc010cnh.1_Missense_Mutation_p.R273C|TP53_uc010cni.1_Missense_Mutation_p.R273C|TP53_uc002gij.2_Missense_Mutation_p.R273C NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 273 Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). OM_00950 F TP53 7157 broad.mit.edu 36 17 7517846 7517846 + Missense_Mutation SNP G A A EFO27_OVARY Phase_I g.chr17:7517846G>A uc002gim.2 - c.817C>T c.(817-819)CGT>TGT p.R273C TP53_uc002gig.1_Intron|TP53_uc002gih.1_Missense_Mutation_p.R273C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R141C|TP53_uc010cng.1_Missense_Mutation_p.R141C|TP53_uc002gii.1_Missense_Mutation_p.R141C|TP53_uc010cnh.1_Missense_Mutation_p.R273C|TP53_uc010cni.1_Missense_Mutation_p.R273C|TP53_uc002gij.2_Missense_Mutation_p.R273C NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 273 Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). OM_00950 F TP53 7157 broad.mit.edu 36 17 7517846 7517846 + Missense_Mutation SNP G A A SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE Phase_I g.chr17:7517846G>A uc002gim.2 - c.817C>T c.(817-819)CGT>TGT p.R273C TP53_uc002gig.1_Intron|TP53_uc002gih.1_Missense_Mutation_p.R273C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R141C|TP53_uc010cng.1_Missense_Mutation_p.R141C|TP53_uc002gii.1_Missense_Mutation_p.R141C|TP53_uc010cnh.1_Missense_Mutation_p.R273C|TP53_uc010cni.1_Missense_Mutation_p.R273C|TP53_uc002gij.2_Missense_Mutation_p.R273C NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 273 Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). OM_00950 F TP53 7157 broad.mit.edu 36 17 7517846 7517846 + Missense_Mutation SNP G A A BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE Phase_I g.chr17:7517846G>A uc002gim.2 - c.817C>T c.(817-819)CGT>TGT p.R273C TP53_uc002gig.1_Intron|TP53_uc002gih.1_Missense_Mutation_p.R273C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R141C|TP53_uc010cng.1_Missense_Mutation_p.R141C|TP53_uc002gii.1_Missense_Mutation_p.R141C|TP53_uc010cnh.1_Missense_Mutation_p.R273C|TP53_uc010cni.1_Missense_Mutation_p.R273C|TP53_uc002gij.2_Missense_Mutation_p.R273C NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 273 Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). OM_00950 F TP53 7157 broad.mit.edu 36 17 7517846 7517846 + Missense_Mutation SNP G A A RDES_BONE Phase_I g.chr17:7517846G>A uc002gim.2 - c.817C>T c.(817-819)CGT>TGT p.R273C TP53_uc002gig.1_Intron|TP53_uc002gih.1_Missense_Mutation_p.R273C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R141C|TP53_uc010cng.1_Missense_Mutation_p.R141C|TP53_uc002gii.1_Missense_Mutation_p.R141C|TP53_uc010cnh.1_Missense_Mutation_p.R273C|TP53_uc010cni.1_Missense_Mutation_p.R273C|TP53_uc002gij.2_Missense_Mutation_p.R273C NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 273 Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). OM_00950 F TP53 7157 broad.mit.edu 36 17 7517846 7517846 + Missense_Mutation SNP G A A RH30_SOFT_TISSUE Phase_I g.chr17:7517846G>A uc002gim.2 - c.817C>T c.(817-819)CGT>TGT p.R273C TP53_uc002gig.1_Intron|TP53_uc002gih.1_Missense_Mutation_p.R273C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R141C|TP53_uc010cng.1_Missense_Mutation_p.R141C|TP53_uc002gii.1_Missense_Mutation_p.R141C|TP53_uc010cnh.1_Missense_Mutation_p.R273C|TP53_uc010cni.1_Missense_Mutation_p.R273C|TP53_uc002gij.2_Missense_Mutation_p.R273C NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 273 Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). OM_00950 F TP53 7157 broad.mit.edu 36 17 7517845 7517845 + Missense_Mutation SNP C T T rs28934576 unknown FTC133_THYROID Phase_I g.chr17:7517845C>T uc002gim.2 - c.818G>A c.(817-819)CGT>CAT p.R273H TP53_uc002gig.1_Intron|TP53_uc002gih.1_Missense_Mutation_p.R273H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R141H|TP53_uc010cng.1_Missense_Mutation_p.R141H|TP53_uc002gii.1_Missense_Mutation_p.R141H|TP53_uc010cnh.1_Missense_Mutation_p.R273H|TP53_uc010cni.1_Missense_Mutation_p.R273H|TP53_uc002gij.2_Missense_Mutation_p.R273H NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 273 Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). OM_00951 R TP53 7157 broad.mit.edu 36 17 7517845 7517845 + Missense_Mutation SNP C T T rs28934576 unknown MDAMB468_BREAST Phase_I g.chr17:7517845C>T uc002gim.2 - c.818G>A c.(817-819)CGT>CAT p.R273H TP53_uc002gig.1_Intron|TP53_uc002gih.1_Missense_Mutation_p.R273H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R141H|TP53_uc010cng.1_Missense_Mutation_p.R141H|TP53_uc002gii.1_Missense_Mutation_p.R141H|TP53_uc010cnh.1_Missense_Mutation_p.R273H|TP53_uc010cni.1_Missense_Mutation_p.R273H|TP53_uc002gij.2_Missense_Mutation_p.R273H NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 273 Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). OM_00951 R TP53 7157 broad.mit.edu 36 17 7517845 7517845 + Missense_Mutation SNP C T T rs28934576 unknown SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE Phase_I g.chr17:7517845C>T uc002gim.2 - c.818G>A c.(817-819)CGT>CAT p.R273H TP53_uc002gig.1_Intron|TP53_uc002gih.1_Missense_Mutation_p.R273H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R141H|TP53_uc010cng.1_Missense_Mutation_p.R141H|TP53_uc002gii.1_Missense_Mutation_p.R141H|TP53_uc010cnh.1_Missense_Mutation_p.R273H|TP53_uc010cni.1_Missense_Mutation_p.R273H|TP53_uc002gij.2_Missense_Mutation_p.R273H NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 273 Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). OM_00951 R TP53 7157 broad.mit.edu 36 17 7517845 7517845 + Missense_Mutation SNP C T T rs28934576 unknown NCIH1155_LUNG Phase_I g.chr17:7517845C>T uc002gim.2 - c.818G>A c.(817-819)CGT>CAT p.R273H TP53_uc002gig.1_Intron|TP53_uc002gih.1_Missense_Mutation_p.R273H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R141H|TP53_uc010cng.1_Missense_Mutation_p.R141H|TP53_uc002gii.1_Missense_Mutation_p.R141H|TP53_uc010cnh.1_Missense_Mutation_p.R273H|TP53_uc010cni.1_Missense_Mutation_p.R273H|TP53_uc002gij.2_Missense_Mutation_p.R273H NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 273 Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). OM_00951 R TP53 7157 broad.mit.edu 36 17 7517845 7517845 + Missense_Mutation SNP C T T rs28934576 unknown U251MG_CENTRAL_NERVOUS_SYSTEM Phase_I g.chr17:7517845C>T uc002gim.2 - c.818G>A c.(817-819)CGT>CAT p.R273H TP53_uc002gig.1_Intron|TP53_uc002gih.1_Missense_Mutation_p.R273H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R141H|TP53_uc010cng.1_Missense_Mutation_p.R141H|TP53_uc002gii.1_Missense_Mutation_p.R141H|TP53_uc010cnh.1_Missense_Mutation_p.R273H|TP53_uc010cni.1_Missense_Mutation_p.R273H|TP53_uc002gij.2_Missense_Mutation_p.R273H NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 273 Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). OM_00951 R TP53 7157 broad.mit.edu 36 17 7517845 7517845 + Missense_Mutation SNP C T T rs28934576 unknown SUIT2_PANCREAS Phase_I g.chr17:7517845C>T uc002gim.2 - c.818G>A c.(817-819)CGT>CAT p.R273H TP53_uc002gig.1_Intron|TP53_uc002gih.1_Missense_Mutation_p.R273H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R141H|TP53_uc010cng.1_Missense_Mutation_p.R141H|TP53_uc002gii.1_Missense_Mutation_p.R141H|TP53_uc010cnh.1_Missense_Mutation_p.R273H|TP53_uc010cni.1_Missense_Mutation_p.R273H|TP53_uc002gij.2_Missense_Mutation_p.R273H NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 273 Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). OM_00951 R TP53 7157 broad.mit.edu 36 17 7517845 7517845 + Missense_Mutation SNP C T T rs28934576 unknown OC316_OVARY Phase_I g.chr17:7517845C>T uc002gim.2 - c.818G>A c.(817-819)CGT>CAT p.R273H TP53_uc002gig.1_Intron|TP53_uc002gih.1_Missense_Mutation_p.R273H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R141H|TP53_uc010cng.1_Missense_Mutation_p.R141H|TP53_uc002gii.1_Missense_Mutation_p.R141H|TP53_uc010cnh.1_Missense_Mutation_p.R273H|TP53_uc010cni.1_Missense_Mutation_p.R273H|TP53_uc002gij.2_Missense_Mutation_p.R273H NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 273 Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). OM_00951 R TP53 7157 broad.mit.edu 36 17 7517845 7517845 + Missense_Mutation SNP C T T rs28934576 unknown EN_ENDOMETRIUM Phase_I g.chr17:7517845C>T uc002gim.2 - c.818G>A c.(817-819)CGT>CAT p.R273H TP53_uc002gig.1_Intron|TP53_uc002gih.1_Missense_Mutation_p.R273H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R141H|TP53_uc010cng.1_Missense_Mutation_p.R141H|TP53_uc002gii.1_Missense_Mutation_p.R141H|TP53_uc010cnh.1_Missense_Mutation_p.R273H|TP53_uc010cni.1_Missense_Mutation_p.R273H|TP53_uc002gij.2_Missense_Mutation_p.R273H NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 273 Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). OM_00951 R TP53 7157 broad.mit.edu 36 17 7517845 7517845 + Missense_Mutation SNP C T T rs28934576 unknown OC314_OVARY Phase_I g.chr17:7517845C>T uc002gim.2 - c.818G>A c.(817-819)CGT>CAT p.R273H TP53_uc002gig.1_Intron|TP53_uc002gih.1_Missense_Mutation_p.R273H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R141H|TP53_uc010cng.1_Missense_Mutation_p.R141H|TP53_uc002gii.1_Missense_Mutation_p.R141H|TP53_uc010cnh.1_Missense_Mutation_p.R273H|TP53_uc010cni.1_Missense_Mutation_p.R273H|TP53_uc002gij.2_Missense_Mutation_p.R273H NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 273 Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). OM_00951 R TP53 7157 broad.mit.edu 36 17 7517845 7517845 + Missense_Mutation SNP C T T rs28934576 unknown PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE Phase_I g.chr17:7517845C>T uc002gim.2 - c.818G>A c.(817-819)CGT>CAT p.R273H TP53_uc002gig.1_Intron|TP53_uc002gih.1_Missense_Mutation_p.R273H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R141H|TP53_uc010cng.1_Missense_Mutation_p.R141H|TP53_uc002gii.1_Missense_Mutation_p.R141H|TP53_uc010cnh.1_Missense_Mutation_p.R273H|TP53_uc010cni.1_Missense_Mutation_p.R273H|TP53_uc002gij.2_Missense_Mutation_p.R273H NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 273 Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). OM_00951 R TP53 7157 broad.mit.edu 36 17 7517845 7517845 + Missense_Mutation SNP C T T rs28934576 unknown SNB19_CENTRAL_NERVOUS_SYSTEM Phase_I g.chr17:7517845C>T uc002gim.2 - c.818G>A c.(817-819)CGT>CAT p.R273H TP53_uc002gig.1_Intron|TP53_uc002gih.1_Missense_Mutation_p.R273H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R141H|TP53_uc010cng.1_Missense_Mutation_p.R141H|TP53_uc002gii.1_Missense_Mutation_p.R141H|TP53_uc010cnh.1_Missense_Mutation_p.R273H|TP53_uc010cni.1_Missense_Mutation_p.R273H|TP53_uc002gij.2_Missense_Mutation_p.R273H NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 273 Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). OM_00951 R TP53 7157 broad.mit.edu 36 17 7517845 7517845 + Missense_Mutation SNP C T T rs28934576 unknown YD8_UPPER_AERODIGESTIVE_TRACT Phase_I g.chr17:7517845C>T uc002gim.2 - c.818G>A c.(817-819)CGT>CAT p.R273H TP53_uc002gig.1_Intron|TP53_uc002gih.1_Missense_Mutation_p.R273H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R141H|TP53_uc010cng.1_Missense_Mutation_p.R141H|TP53_uc002gii.1_Missense_Mutation_p.R141H|TP53_uc010cnh.1_Missense_Mutation_p.R273H|TP53_uc010cni.1_Missense_Mutation_p.R273H|TP53_uc002gij.2_Missense_Mutation_p.R273H NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 273 Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). OM_00951 R TP53 7157 broad.mit.edu 36 17 7517845 7517845 + Missense_Mutation SNP C T T rs28934576 unknown PANC1_PANCREAS Phase_I g.chr17:7517845C>T uc002gim.2 - c.818G>A c.(817-819)CGT>CAT p.R273H TP53_uc002gig.1_Intron|TP53_uc002gih.1_Missense_Mutation_p.R273H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R141H|TP53_uc010cng.1_Missense_Mutation_p.R141H|TP53_uc002gii.1_Missense_Mutation_p.R141H|TP53_uc010cnh.1_Missense_Mutation_p.R273H|TP53_uc010cni.1_Missense_Mutation_p.R273H|TP53_uc002gij.2_Missense_Mutation_p.R273H NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 273 Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). OM_00951 R TP53 7157 broad.mit.edu 36 17 7517845 7517845 + Missense_Mutation SNP C T T rs28934576 unknown SNU601_STOMACH Phase_I g.chr17:7517845C>T uc002gim.2 - c.818G>A c.(817-819)CGT>CAT p.R273H TP53_uc002gig.1_Intron|TP53_uc002gih.1_Missense_Mutation_p.R273H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R141H|TP53_uc010cng.1_Missense_Mutation_p.R141H|TP53_uc002gii.1_Missense_Mutation_p.R141H|TP53_uc010cnh.1_Missense_Mutation_p.R273H|TP53_uc010cni.1_Missense_Mutation_p.R273H|TP53_uc002gij.2_Missense_Mutation_p.R273H NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 273 Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). OM_00951 R TP53 7157 broad.mit.edu 36 17 7517845 7517845 + Missense_Mutation SNP C T T rs28934576 unknown SW480_LARGE_INTESTINE Phase_I g.chr17:7517845C>T uc002gim.2 - c.818G>A c.(817-819)CGT>CAT p.R273H TP53_uc002gig.1_Intron|TP53_uc002gih.1_Missense_Mutation_p.R273H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R141H|TP53_uc010cng.1_Missense_Mutation_p.R141H|TP53_uc002gii.1_Missense_Mutation_p.R141H|TP53_uc010cnh.1_Missense_Mutation_p.R273H|TP53_uc010cni.1_Missense_Mutation_p.R273H|TP53_uc002gij.2_Missense_Mutation_p.R273H NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 273 Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). OM_00951 R TP53 7157 broad.mit.edu 36 17 7517845 7517845 + Missense_Mutation SNP C T T rs28934576 unknown FTC238_THYROID Phase_I g.chr17:7517845C>T uc002gim.2 - c.818G>A c.(817-819)CGT>CAT p.R273H TP53_uc002gig.1_Intron|TP53_uc002gih.1_Missense_Mutation_p.R273H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R141H|TP53_uc010cng.1_Missense_Mutation_p.R141H|TP53_uc002gii.1_Missense_Mutation_p.R141H|TP53_uc010cnh.1_Missense_Mutation_p.R273H|TP53_uc010cni.1_Missense_Mutation_p.R273H|TP53_uc002gij.2_Missense_Mutation_p.R273H NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 273 Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). OM_00951 R TP53 7157 broad.mit.edu 36 17 7517845 7517845 + Missense_Mutation SNP C T T rs28934576 unknown MONOMAC6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE Phase_I g.chr17:7517845C>T uc002gim.2 - c.818G>A c.(817-819)CGT>CAT p.R273H TP53_uc002gig.1_Intron|TP53_uc002gih.1_Missense_Mutation_p.R273H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R141H|TP53_uc010cng.1_Missense_Mutation_p.R141H|TP53_uc002gii.1_Missense_Mutation_p.R141H|TP53_uc010cnh.1_Missense_Mutation_p.R273H|TP53_uc010cni.1_Missense_Mutation_p.R273H|TP53_uc002gij.2_Missense_Mutation_p.R273H NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 273 Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). OM_00951 R TP53 7157 broad.mit.edu 36 17 7517845 7517845 + Missense_Mutation SNP C T T rs28934576 unknown SKMEL30_SKIN Phase_I g.chr17:7517845C>T uc002gim.2 - c.818G>A c.(817-819)CGT>CAT p.R273H TP53_uc002gig.1_Intron|TP53_uc002gih.1_Missense_Mutation_p.R273H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R141H|TP53_uc010cng.1_Missense_Mutation_p.R141H|TP53_uc002gii.1_Missense_Mutation_p.R141H|TP53_uc010cnh.1_Missense_Mutation_p.R273H|TP53_uc010cni.1_Missense_Mutation_p.R273H|TP53_uc002gij.2_Missense_Mutation_p.R273H NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 273 Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). OM_00951 R TP53 7157 broad.mit.edu 36 17 7517845 7517845 + Missense_Mutation SNP C T T rs28934576 unknown NCIH2405_LUNG Phase_I g.chr17:7517845C>T uc002gim.2 - c.818G>A c.(817-819)CGT>CAT p.R273H TP53_uc002gig.1_Intron|TP53_uc002gih.1_Missense_Mutation_p.R273H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R141H|TP53_uc010cng.1_Missense_Mutation_p.R141H|TP53_uc002gii.1_Missense_Mutation_p.R141H|TP53_uc010cnh.1_Missense_Mutation_p.R273H|TP53_uc010cni.1_Missense_Mutation_p.R273H|TP53_uc002gij.2_Missense_Mutation_p.R273H NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 273 Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). OM_00951 R TP53 7157 broad.mit.edu 36 17 7517845 7517845 + Missense_Mutation SNP C T T rs28934576 unknown SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE Phase_I g.chr17:7517845C>T uc002gim.2 - c.818G>A c.(817-819)CGT>CAT p.R273H TP53_uc002gig.1_Intron|TP53_uc002gih.1_Missense_Mutation_p.R273H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R141H|TP53_uc010cng.1_Missense_Mutation_p.R141H|TP53_uc002gii.1_Missense_Mutation_p.R141H|TP53_uc010cnh.1_Missense_Mutation_p.R273H|TP53_uc010cni.1_Missense_Mutation_p.R273H|TP53_uc002gij.2_Missense_Mutation_p.R273H NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 273 Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). OM_00951 R TP53 7157 broad.mit.edu 36 17 7517845 7517845 + Missense_Mutation SNP C T T rs28934576 unknown NCIH1793_LUNG Phase_I g.chr17:7517845C>T uc002gim.2 - c.818G>A c.(817-819)CGT>CAT p.R273H TP53_uc002gig.1_Intron|TP53_uc002gih.1_Missense_Mutation_p.R273H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R141H|TP53_uc010cng.1_Missense_Mutation_p.R141H|TP53_uc002gii.1_Missense_Mutation_p.R141H|TP53_uc010cnh.1_Missense_Mutation_p.R273H|TP53_uc010cni.1_Missense_Mutation_p.R273H|TP53_uc002gij.2_Missense_Mutation_p.R273H NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 273 Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). OM_00951 R TP53 7157 broad.mit.edu 36 17 7517845 7517845 + Missense_Mutation SNP C T T rs28934576 unknown MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE Phase_I g.chr17:7517845C>T uc002gim.2 - c.818G>A c.(817-819)CGT>CAT p.R273H TP53_uc002gig.1_Intron|TP53_uc002gih.1_Missense_Mutation_p.R273H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R141H|TP53_uc010cng.1_Missense_Mutation_p.R141H|TP53_uc002gii.1_Missense_Mutation_p.R141H|TP53_uc010cnh.1_Missense_Mutation_p.R273H|TP53_uc010cni.1_Missense_Mutation_p.R273H|TP53_uc002gij.2_Missense_Mutation_p.R273H NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 273 Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). OM_00951 R TP53 7157 broad.mit.edu 36 17 7517845 7517845 + Missense_Mutation SNP C T T rs28934576 unknown HT29_LARGE_INTESTINE Phase_I g.chr17:7517845C>T uc002gim.2 - c.818G>A c.(817-819)CGT>CAT p.R273H TP53_uc002gig.1_Intron|TP53_uc002gih.1_Missense_Mutation_p.R273H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R141H|TP53_uc010cng.1_Missense_Mutation_p.R141H|TP53_uc002gii.1_Missense_Mutation_p.R141H|TP53_uc010cnh.1_Missense_Mutation_p.R273H|TP53_uc010cni.1_Missense_Mutation_p.R273H|TP53_uc002gij.2_Missense_Mutation_p.R273H NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 273 Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). OM_00951 R TP53 7157 broad.mit.edu 36 17 7517845 7517845 + Missense_Mutation SNP C T T rs28934576 unknown HEC59_ENDOMETRIUM Phase_I g.chr17:7517845C>T uc002gim.2 - c.818G>A c.(817-819)CGT>CAT p.R273H TP53_uc002gig.1_Intron|TP53_uc002gih.1_Missense_Mutation_p.R273H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R141H|TP53_uc010cng.1_Missense_Mutation_p.R141H|TP53_uc002gii.1_Missense_Mutation_p.R141H|TP53_uc010cnh.1_Missense_Mutation_p.R273H|TP53_uc010cni.1_Missense_Mutation_p.R273H|TP53_uc002gij.2_Missense_Mutation_p.R273H NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 273 Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). OM_00951 R TP53 7157 broad.mit.edu 36 17 7517845 7517845 + Missense_Mutation SNP C T T rs28934576 unknown NCIH508_LARGE_INTESTINE Phase_I g.chr17:7517845C>T uc002gim.2 - c.818G>A c.(817-819)CGT>CAT p.R273H TP53_uc002gig.1_Intron|TP53_uc002gih.1_Missense_Mutation_p.R273H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R141H|TP53_uc010cng.1_Missense_Mutation_p.R141H|TP53_uc002gii.1_Missense_Mutation_p.R141H|TP53_uc010cnh.1_Missense_Mutation_p.R273H|TP53_uc010cni.1_Missense_Mutation_p.R273H|TP53_uc002gij.2_Missense_Mutation_p.R273H NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 273 Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). OM_00951 R TP53 7157 broad.mit.edu 36 17 7517845 7517845 + Missense_Mutation SNP C T T rs28934576 unknown OC315_OVARY Phase_I g.chr17:7517845C>T uc002gim.2 - c.818G>A c.(817-819)CGT>CAT p.R273H TP53_uc002gig.1_Intron|TP53_uc002gih.1_Missense_Mutation_p.R273H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R141H|TP53_uc010cng.1_Missense_Mutation_p.R141H|TP53_uc002gii.1_Missense_Mutation_p.R141H|TP53_uc010cnh.1_Missense_Mutation_p.R273H|TP53_uc010cni.1_Missense_Mutation_p.R273H|TP53_uc002gij.2_Missense_Mutation_p.R273H NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 273 Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). OM_00951 R TP53 7157 broad.mit.edu 36 17 7517845 7517845 + Missense_Mutation SNP C T T rs28934576 unknown SW1783_CENTRAL_NERVOUS_SYSTEM Phase_I g.chr17:7517845C>T uc002gim.2 - c.818G>A c.(817-819)CGT>CAT p.R273H TP53_uc002gig.1_Intron|TP53_uc002gih.1_Missense_Mutation_p.R273H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R141H|TP53_uc010cng.1_Missense_Mutation_p.R141H|TP53_uc002gii.1_Missense_Mutation_p.R141H|TP53_uc010cnh.1_Missense_Mutation_p.R273H|TP53_uc010cni.1_Missense_Mutation_p.R273H|TP53_uc002gij.2_Missense_Mutation_p.R273H NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 273 Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). OM_00951 R TP53 7157 broad.mit.edu 36 17 7517845 7517845 + Missense_Mutation SNP C T T rs28934576 unknown MONOMAC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE Phase_I g.chr17:7517845C>T uc002gim.2 - c.818G>A c.(817-819)CGT>CAT p.R273H TP53_uc002gig.1_Intron|TP53_uc002gih.1_Missense_Mutation_p.R273H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R141H|TP53_uc010cng.1_Missense_Mutation_p.R141H|TP53_uc002gii.1_Missense_Mutation_p.R141H|TP53_uc010cnh.1_Missense_Mutation_p.R273H|TP53_uc010cni.1_Missense_Mutation_p.R273H|TP53_uc002gij.2_Missense_Mutation_p.R273H NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 273 Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). OM_00951 R TP53 7157 broad.mit.edu 36 17 7517845 7517845 + Missense_Mutation SNP C T T rs28934576 unknown NCIH1975_LUNG Phase_I g.chr17:7517845C>T uc002gim.2 - c.818G>A c.(817-819)CGT>CAT p.R273H TP53_uc002gig.1_Intron|TP53_uc002gih.1_Missense_Mutation_p.R273H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R141H|TP53_uc010cng.1_Missense_Mutation_p.R141H|TP53_uc002gii.1_Missense_Mutation_p.R141H|TP53_uc010cnh.1_Missense_Mutation_p.R273H|TP53_uc010cni.1_Missense_Mutation_p.R273H|TP53_uc002gij.2_Missense_Mutation_p.R273H NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 273 Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). OM_00951 R TP53 7157 broad.mit.edu 36 17 7517845 7517845 + Missense_Mutation SNP C T T rs28934576 unknown SW620_LARGE_INTESTINE Phase_I g.chr17:7517845C>T uc002gim.2 - c.818G>A c.(817-819)CGT>CAT p.R273H TP53_uc002gig.1_Intron|TP53_uc002gih.1_Missense_Mutation_p.R273H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R141H|TP53_uc010cng.1_Missense_Mutation_p.R141H|TP53_uc002gii.1_Missense_Mutation_p.R141H|TP53_uc010cnh.1_Missense_Mutation_p.R273H|TP53_uc010cni.1_Missense_Mutation_p.R273H|TP53_uc002gij.2_Missense_Mutation_p.R273H NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 273 Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). OM_00951 R TP53 7157 broad.mit.edu 36 17 7517845 7517845 + Missense_Mutation SNP C T T rs28934576 unknown HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE Phase_I g.chr17:7517845C>T uc002gim.2 - c.818G>A c.(817-819)CGT>CAT p.R273H TP53_uc002gig.1_Intron|TP53_uc002gih.1_Missense_Mutation_p.R273H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R141H|TP53_uc010cng.1_Missense_Mutation_p.R141H|TP53_uc002gii.1_Missense_Mutation_p.R141H|TP53_uc010cnh.1_Missense_Mutation_p.R273H|TP53_uc010cni.1_Missense_Mutation_p.R273H|TP53_uc002gij.2_Missense_Mutation_p.R273H NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 273 Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). OM_00951 R TP53 7157 broad.mit.edu 36 17 7517845 7517845 + Missense_Mutation SNP C T T rs28934576 unknown HEC6_ENDOMETRIUM Phase_I g.chr17:7517845C>T uc002gim.2 - c.818G>A c.(817-819)CGT>CAT p.R273H TP53_uc002gig.1_Intron|TP53_uc002gih.1_Missense_Mutation_p.R273H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R141H|TP53_uc010cng.1_Missense_Mutation_p.R141H|TP53_uc002gii.1_Missense_Mutation_p.R141H|TP53_uc010cnh.1_Missense_Mutation_p.R273H|TP53_uc010cni.1_Missense_Mutation_p.R273H|TP53_uc002gij.2_Missense_Mutation_p.R273H NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 273 Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). OM_00951 R VHL 7428 broad.mit.edu 36 3 10158797 10158797 + Missense_Mutation SNP T A A rs5030807 unknown NCIH28_PLEURA Phase_I g.chr3:10158797T>A uc003bvc.1 + c.266T>A c.(265-267)CTC>CAC p.L89H VHL_uc003bvd.1_Missense_Mutation_p.L89H NM_000551 NP_000542 P40337 VHL_HUMAN von Hippel-Lindau tumor suppressor isoform 1 89 OM_00961 R AKT1 207 broad.mit.edu 36 14 104317596 104317596 + Missense_Mutation SNP C T T rs34409589 unknown KU1919_URINARY_TRACT Phase_I g.chr14:104317596C>T uc001ypk.1 - c.49G>A c.(49-51)GAG>AAG p.E17K AKT1_uc001ypl.1_Missense_Mutation_p.E17K|AKT1_uc010axa.1_Missense_Mutation_p.E17K|AKT1_uc001ypm.1_Missense_Mutation_p.E17K|AKT1_uc001ypn.1_Missense_Mutation_p.E17K NM_005163 NP_005154 P31749 AKT1_HUMAN AKT1 kinase 17 PH. OM_00970 F PIK3CA 5290 broad.mit.edu 36 3 180418786 180418786 + Missense_Mutation SNP A C C AGS_STOMACH Phase_I g.chr3:180418786A>C uc003fjk.1 + c.1634A>C c.(1633-1635)GAG>GCG p.E545A NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 545 OM_01017 R PIK3CA 5290 broad.mit.edu 36 3 180418786 180418786 + Missense_Mutation SNP A C C SNU869_BILIARY_TRACT Phase_I g.chr3:180418786A>C uc003fjk.1 + c.1634A>C c.(1633-1635)GAG>GCG p.E545A NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 545 OM_01017 R PIK3CA 5290 broad.mit.edu 36 3 180418786 180418786 + Missense_Mutation SNP A G G 253JBV_URINARY_TRACT Phase_I g.chr3:180418786A>G uc003fjk.1 + c.1634A>G c.(1633-1635)GAG>GGG p.E545G NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 545 OM_01019 R PIK3CA 5290 broad.mit.edu 36 3 180418786 180418786 + Missense_Mutation SNP A G G 253J_URINARY_TRACT Phase_I g.chr3:180418786A>G uc003fjk.1 + c.1634A>G c.(1633-1635)GAG>GGG p.E545G NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 545 OM_01019 R PIK3CA 5290 broad.mit.edu 36 3 180418786 180418786 + Missense_Mutation SNP A G G KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE Phase_I g.chr3:180418786A>G uc003fjk.1 + c.1634A>G c.(1633-1635)GAG>GGG p.E545G NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 545 OM_01019 R PIK3CA 5290 broad.mit.edu 36 3 180418786 180418786 + Missense_Mutation SNP A G G SNUC4_LARGE_INTESTINE Phase_I g.chr3:180418786A>G uc003fjk.1 + c.1634A>G c.(1633-1635)GAG>GGG p.E545G NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 545 OM_01019 R KRAS 3845 broad.mit.edu 36 12 25269829 25269829 + Missense_Mutation SNP C T T AMO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE Phase_I g.chr12:25269829C>T uc001rgp.1 - c.436G>A c.(436-438)GCA>ACA p.A146T KRAS_uc001rgq.1_Missense_Mutation_p.A146T NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 146 OM_01026A F KRAS 3845 broad.mit.edu 36 12 25269829 25269829 + Missense_Mutation SNP C T T SNU81_LARGE_INTESTINE Phase_I g.chr12:25269829C>T uc001rgp.1 - c.436G>A c.(436-438)GCA>ACA p.A146T KRAS_uc001rgq.1_Missense_Mutation_p.A146T NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 146 OM_01026A F KRAS 3845 broad.mit.edu 36 12 25269829 25269829 + Missense_Mutation SNP C T T NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE Phase_I g.chr12:25269829C>T uc001rgp.1 - c.436G>A c.(436-438)GCA>ACA p.A146T KRAS_uc001rgq.1_Missense_Mutation_p.A146T NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 146 OM_01026A F KRAS 3845 broad.mit.edu 36 12 25269829 25269829 + Missense_Mutation SNP C T T LS1034_LARGE_INTESTINE Phase_I g.chr12:25269829C>T uc001rgp.1 - c.436G>A c.(436-438)GCA>ACA p.A146T KRAS_uc001rgq.1_Missense_Mutation_p.A146T NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 146 OM_01026A F CDKN2A 1029 broad.mit.edu 36 9 21961096 21961096 + Missense_Mutation SNP C A A CAL33_UPPER_AERODIGESTIVE_TRACT Phase_I g.chr9:21961096C>A uc003zpl.1 - c.428G>T c.(427-429)GGA>GTA p.G143V MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpk.1_Nonsense_Mutation_p.E88*|CDKN2A_uc003zpj.1_3'UTR|CDKN2A_uc010miu.1_Non-coding_Transcript NM_058195 NP_478102 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A isoform 4 Error:Variant_position_missing_in_P42771_after_alignment OM_01030A F PTEN 5728 broad.mit.edu 36 10 89707755 89707755 + Frame_Shift_Del DEL A - - TOV21G_OVARY Phase_I g.chr10:89707755_89707755delA uc001kfb.1 + c.800_800delA c.(799-801)AAGfs p.K267fs NM_000314 NP_000305 P60484 PTEN_HUMAN phosphatase and tensin homolog 267 C2 tensin-type. OM_01038 R PTEN 5728 broad.mit.edu 36 10 89707755 89707755 + Frame_Shift_Del DEL A - - EFO27_OVARY Phase_I g.chr10:89707755_89707755delA uc001kfb.1 + c.800_800delA c.(799-801)AAGfs p.K267fs NM_000314 NP_000305 P60484 PTEN_HUMAN phosphatase and tensin homolog 267 C2 tensin-type. OM_01038 R PTEN 5728 broad.mit.edu 36 10 89707755 89707755 + Frame_Shift_Del DEL A - - EN_ENDOMETRIUM Phase_I g.chr10:89707755_89707755delA uc001kfb.1 + c.800_800delA c.(799-801)AAGfs p.K267fs NM_000314 NP_000305 P60484 PTEN_HUMAN phosphatase and tensin homolog 267 C2 tensin-type. OM_01038 R PTEN 5728 broad.mit.edu 36 10 89707755 89707755 + Frame_Shift_Del DEL A - - KM12_LARGE_INTESTINE Phase_I g.chr10:89707755_89707755delA uc001kfb.1 + c.800_800delA c.(799-801)AAGfs p.K267fs NM_000314 NP_000305 P60484 PTEN_HUMAN phosphatase and tensin homolog 267 C2 tensin-type. OM_01038 R PTEN 5728 broad.mit.edu 36 10 89707755 89707755 + Frame_Shift_Del DEL A - - HEC59_ENDOMETRIUM Phase_I g.chr10:89707755_89707755delA uc001kfb.1 + c.800_800delA c.(799-801)AAGfs p.K267fs NM_000314 NP_000305 P60484 PTEN_HUMAN phosphatase and tensin homolog 267 C2 tensin-type. OM_01038 R PTEN 5728 broad.mit.edu 36 10 89707755 89707755 + Frame_Shift_Del DEL A - - HCC1569_BREAST Phase_I g.chr10:89707755_89707755delA uc001kfb.1 + c.800_800delA c.(799-801)AAGfs p.K267fs NM_000314 NP_000305 P60484 PTEN_HUMAN phosphatase and tensin homolog 267 C2 tensin-type. OM_01038 R PTEN 5728 broad.mit.edu 36 10 89707755 89707755 + Frame_Shift_Del DEL A - - MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE Phase_I g.chr10:89707755_89707755delA uc001kfb.1 + c.800_800delA c.(799-801)AAGfs p.K267fs NM_000314 NP_000305 P60484 PTEN_HUMAN phosphatase and tensin homolog 267 C2 tensin-type. OM_01038 R PTEN 5728 broad.mit.edu 36 10 89707755 89707755 + Frame_Shift_Del DEL A - - SNU520_STOMACH Phase_I g.chr10:89707755_89707755delA uc001kfb.1 + c.800_800delA c.(799-801)AAGfs p.K267fs NM_000314 NP_000305 P60484 PTEN_HUMAN phosphatase and tensin homolog 267 C2 tensin-type. OM_01038 R PTEN 5728 broad.mit.edu 36 10 89710779 89710782 + Frame_Shift_Del DEL TACT - - SKUT1_SOFT_TISSUE Phase_I g.chr10:89710779_89710782delTACT uc001kfb.1 + c.950_953delTACT c.(949-954)GTACTTfs p.V317fs NM_000314 NP_000305 P60484 PTEN_HUMAN phosphatase and tensin homolog 317_318 C2 tensin-type. OM_01039 R PTEN 5728 broad.mit.edu 36 10 89710779 89710782 + Frame_Shift_Del DEL TACT - - ISHIKAWAHERAKLIO02ER_ENDOMETRIUM Phase_I g.chr10:89710779_89710782delTACT uc001kfb.1 + c.950_953delTACT c.(949-954)GTACTTfs p.V317fs NM_000314 NP_000305 P60484 PTEN_HUMAN phosphatase and tensin homolog 317_318 C2 tensin-type. OM_01039 R PTEN 5728 broad.mit.edu 36 10 89710779 89710782 + Frame_Shift_Del DEL TACT - - EVSAT_BREAST Phase_I g.chr10:89710779_89710782delTACT uc001kfb.1 + c.950_953delTACT c.(949-954)GTACTTfs p.V317fs NM_000314 NP_000305 P60484 PTEN_HUMAN phosphatase and tensin homolog 317_318 C2 tensin-type. OM_01039 R PTEN 5728 broad.mit.edu 36 10 89710779 89710782 + Frame_Shift_Del DEL TACT - - IGROV1_OVARY Phase_I g.chr10:89710779_89710782delTACT uc001kfb.1 + c.950_953delTACT c.(949-954)GTACTTfs p.V317fs NM_000314 NP_000305 P60484 PTEN_HUMAN phosphatase and tensin homolog 317_318 C2 tensin-type. OM_01039 R PTEN 5728 broad.mit.edu 36 10 89707697 89707698 + Frame_Shift_Ins INS - A A UACC62_SKIN Phase_I g.chr10:89707697_89707698insA uc001kfb.1 + c.742_743insA c.(742-744)CCTfs p.P248fs NM_000314 NP_000305 P60484 PTEN_HUMAN phosphatase and tensin homolog 248 C2 tensin-type. OM_01041A F PTEN 5728 broad.mit.edu 36 10 89682885 89682885 + Frame_Shift_Del DEL G - - AN3CA_ENDOMETRIUM Phase_I g.chr10:89682885_89682885delG uc001kfb.1 + c.389_389delG c.(388-390)CGAfs p.R130fs NM_000314 NP_000305 P60484 PTEN_HUMAN phosphatase and tensin homolog 130 Phosphatase tensin-type. OM_01042 R RB1 5925 broad.mit.edu 36 13 47853539 47853539 + Nonsense_Mutation SNP C T T NCIH1048_LUNG Phase_I g.chr13:47853539C>T uc001vcb.1 + c.1654C>T c.(1654-1656)CGA>TGA p.R552* NM_000321 NP_000312 P06400 RB_HUMAN retinoblastoma 1 552 Domain A.|Pocket; binds T and E1A. OM_01048 R PTEN 5728 broad.mit.edu 36 10 89614223 89614224 + Frame_Shift_Del DEL AA - - LNCAPCLONEFGC_PROSTATE Phase_I g.chr10:89614223_89614224delAA uc001kfb.1 + c.17_18delAA c.(16-18)AAAfs p.K6fs KILLIN_uc009xti.1_5'Flank NM_000314 NP_000305 P60484 PTEN_HUMAN phosphatase and tensin homolog 6 OM_01069 F PTEN 5728 broad.mit.edu 36 10 89614223 89614224 + Frame_Shift_Del DEL AA - - HEC108_ENDOMETRIUM Phase_I g.chr10:89614223_89614224delAA uc001kfb.1 + c.17_18delAA c.(16-18)AAAfs p.K6fs KILLIN_uc009xti.1_5'Flank NM_000314 NP_000305 P60484 PTEN_HUMAN phosphatase and tensin homolog 6 OM_01069 F NRAS 4893 broad.mit.edu 36 1 115058051 115058051 + Missense_Mutation SNP T G G DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE Phase_I g.chr1:115058051T>G uc009wgu.1 - c.183A>C c.(181-183)CAA>CAC p.Q61H NM_002524 NP_002515 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene 61 GTP. OM_01071 F NRAS 4893 broad.mit.edu 36 1 115058051 115058051 + Missense_Mutation SNP T G G L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE Phase_I g.chr1:115058051T>G uc009wgu.1 - c.183A>C c.(181-183)CAA>CAC p.Q61H NM_002524 NP_002515 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene 61 GTP. OM_01071 F TP53 7157 broad.mit.edu 36 17 7517747 7517747 + Nonsense_Mutation SNP G A A MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE Phase_I g.chr17:7517747G>A uc002gim.2 - c.916C>T c.(916-918)CGA>TGA p.R306* TP53_uc002gig.1_Intron|TP53_uc002gih.1_Nonsense_Mutation_p.R306*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.R174*|TP53_uc010cng.1_Nonsense_Mutation_p.R174*|TP53_uc002gii.1_Nonsense_Mutation_p.R174*|TP53_uc010cnh.1_Nonsense_Mutation_p.R306*|TP53_uc010cni.1_Nonsense_Mutation_p.R306*|TP53_uc002gij.2_Nonsense_Mutation_p.R306* NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 306 Bipartite nuclear localization signal.|Interaction with HIPK1 (By similarity).|Interaction with CARM1. OM_01074 F TP53 7157 broad.mit.edu 36 17 7517747 7517747 + Nonsense_Mutation SNP G A A MFE296_ENDOMETRIUM Phase_I g.chr17:7517747G>A uc002gim.2 - c.916C>T c.(916-918)CGA>TGA p.R306* TP53_uc002gig.1_Intron|TP53_uc002gih.1_Nonsense_Mutation_p.R306*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.R174*|TP53_uc010cng.1_Nonsense_Mutation_p.R174*|TP53_uc002gii.1_Nonsense_Mutation_p.R174*|TP53_uc010cnh.1_Nonsense_Mutation_p.R306*|TP53_uc010cni.1_Nonsense_Mutation_p.R306*|TP53_uc002gij.2_Nonsense_Mutation_p.R306* NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 306 Bipartite nuclear localization signal.|Interaction with HIPK1 (By similarity).|Interaction with CARM1. OM_01074 F TP53 7157 broad.mit.edu 36 17 7517747 7517747 + Nonsense_Mutation SNP G A A CORL47_LUNG Phase_I g.chr17:7517747G>A uc002gim.2 - c.916C>T c.(916-918)CGA>TGA p.R306* TP53_uc002gig.1_Intron|TP53_uc002gih.1_Nonsense_Mutation_p.R306*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.R174*|TP53_uc010cng.1_Nonsense_Mutation_p.R174*|TP53_uc002gii.1_Nonsense_Mutation_p.R174*|TP53_uc010cnh.1_Nonsense_Mutation_p.R306*|TP53_uc010cni.1_Nonsense_Mutation_p.R306*|TP53_uc002gij.2_Nonsense_Mutation_p.R306* NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 306 Bipartite nuclear localization signal.|Interaction with HIPK1 (By similarity).|Interaction with CARM1. OM_01074 F TP53 7157 broad.mit.edu 36 17 7517747 7517747 + Nonsense_Mutation SNP G A A JURLMK1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE Phase_I g.chr17:7517747G>A uc002gim.2 - c.916C>T c.(916-918)CGA>TGA p.R306* TP53_uc002gig.1_Intron|TP53_uc002gih.1_Nonsense_Mutation_p.R306*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.R174*|TP53_uc010cng.1_Nonsense_Mutation_p.R174*|TP53_uc002gii.1_Nonsense_Mutation_p.R174*|TP53_uc010cnh.1_Nonsense_Mutation_p.R306*|TP53_uc010cni.1_Nonsense_Mutation_p.R306*|TP53_uc002gij.2_Nonsense_Mutation_p.R306* NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 306 Bipartite nuclear localization signal.|Interaction with HIPK1 (By similarity).|Interaction with CARM1. OM_01074 F TP53 7157 broad.mit.edu 36 17 7517747 7517747 + Nonsense_Mutation SNP G A A RCM1_LARGE_INTESTINE Phase_I g.chr17:7517747G>A uc002gim.2 - c.916C>T c.(916-918)CGA>TGA p.R306* TP53_uc002gig.1_Intron|TP53_uc002gih.1_Nonsense_Mutation_p.R306*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.R174*|TP53_uc010cng.1_Nonsense_Mutation_p.R174*|TP53_uc002gii.1_Nonsense_Mutation_p.R174*|TP53_uc010cnh.1_Nonsense_Mutation_p.R306*|TP53_uc010cni.1_Nonsense_Mutation_p.R306*|TP53_uc002gij.2_Nonsense_Mutation_p.R306* NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 306 Bipartite nuclear localization signal.|Interaction with HIPK1 (By similarity).|Interaction with CARM1. OM_01074 F TP53 7157 broad.mit.edu 36 17 7517747 7517747 + Nonsense_Mutation SNP G A A HCC1937_BREAST Phase_I g.chr17:7517747G>A uc002gim.2 - c.916C>T c.(916-918)CGA>TGA p.R306* TP53_uc002gig.1_Intron|TP53_uc002gih.1_Nonsense_Mutation_p.R306*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.R174*|TP53_uc010cng.1_Nonsense_Mutation_p.R174*|TP53_uc002gii.1_Nonsense_Mutation_p.R174*|TP53_uc010cnh.1_Nonsense_Mutation_p.R306*|TP53_uc010cni.1_Nonsense_Mutation_p.R306*|TP53_uc002gij.2_Nonsense_Mutation_p.R306* NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 306 Bipartite nuclear localization signal.|Interaction with HIPK1 (By similarity).|Interaction with CARM1. OM_01074 F STK11 6794 broad.mit.edu 36 19 1171487 1171487 + Missense_Mutation SNP G A A PLCPRF5_LIVER Phase_I g.chr19:1171487G>A uc002lrl.1 + c.580G>A c.(580-582)GAC>AAC p.D194N NM_000455 NP_000446 Q15831 STK11_HUMAN serine/threonine protein kinase 11 194 Protein kinase. OM_01075 F STK11 6794 broad.mit.edu 36 19 1171487 1171487 + Missense_Mutation SNP G A A ALEXANDERCELLS_LIVER Phase_I g.chr19:1171487G>A uc002lrl.1 + c.580G>A c.(580-582)GAC>AAC p.D194N NM_000455 NP_000446 Q15831 STK11_HUMAN serine/threonine protein kinase 11 194 Protein kinase. OM_01075 F STK11 6794 broad.mit.edu 36 19 1171502 1171502 + Nonsense_Mutation SNP G T T NCIH2073_LUNG Phase_I g.chr19:1171502G>T uc002lrl.1 + c.595G>T c.(595-597)GAG>TAG p.E199* NM_000455 NP_000446 Q15831 STK11_HUMAN serine/threonine protein kinase 11 199 Protein kinase. OM_01078 R STK11 6794 broad.mit.edu 36 19 1172319 1172319 + Missense_Mutation SNP C T T PSN1_PANCREAS Phase_I g.chr19:1172319C>T uc002lrl.1 + c.842C>T c.(841-843)CCG>CTG p.P281L NM_000455 NP_000446 Q15831 STK11_HUMAN serine/threonine protein kinase 11 281 Protein kinase. OM_01079 R STK11 6794 broad.mit.edu 36 19 1172319 1172319 + Missense_Mutation SNP C T T NALM19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE Phase_I g.chr19:1172319C>T uc002lrl.1 + c.842C>T c.(841-843)CCG>CTG p.P281L NM_000455 NP_000446 Q15831 STK11_HUMAN serine/threonine protein kinase 11 281 Protein kinase. OM_01079 R MLH1 4292 broad.mit.edu 36 3 37042244 37042244 + Missense_Mutation SNP T A A rs63750447 unknown MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE Phase_I g.chr3:37042244T>A uc003cgl.1 + c.1151T>A c.(1150-1152)GTT>GAT p.V384D MLH1_uc010hge.1_Missense_Mutation_p.V384D|MLH1_uc003cgn.2_Missense_Mutation_p.V143D|MLH1_uc010hgg.1_Missense_Mutation_p.V43D|MLH1_uc010hgh.1_Missense_Mutation_p.V43D|MLH1_uc010hgi.1_Missense_Mutation_p.V26D|MLH1_uc010hgj.1_Missense_Mutation_p.V26D|MLH1_uc010hgk.1_Missense_Mutation_p.V26D|MLH1_uc010hgl.1_Intron|MLH1_uc010hgm.1_Non-coding_Transcript|MLH1_uc010hgn.1_Missense_Mutation_p.V26D|MLH1_uc010hgo.1_Missense_Mutation_p.V26D NM_000249 NP_000240 P40692 MLH1_HUMAN MutL protein homolog 1 384 OM_01080 F KIT 3815 broad.mit.edu 36 4 55294097 55294097 + Missense_Mutation SNP T A A KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE Phase_I g.chr4:55294097T>A uc010igr.1 + c.2466T>A c.(2464-2466)AAT>AAA p.N822K KIT_uc010igs.1_Missense_Mutation_p.N818K NM_000222 NP_000213 P10721 KIT_HUMAN v-kit Hardy-Zuckerman 4 feline sarcoma viral 822 Protein kinase.|Cytoplasmic (Potential). OM_01085 R APC 324 broad.mit.edu 36 5 112201816 112201816 + Nonsense_Mutation SNP C T T CL40_LARGE_INTESTINE Phase_I g.chr5:112201816C>T uc010jby.1 + c.2626C>T c.(2626-2628)CGA>TGA p.R876* APC_uc003kpz.2_Nonsense_Mutation_p.R876*|APC_uc003kpy.2_Nonsense_Mutation_p.R876*|APC_uc010jbz.1_Nonsense_Mutation_p.R593*|APC_uc010jca.1_Nonsense_Mutation_p.R176* NM_001127511 NP_001120983 P25054 APC_HUMAN adenomatous polyposis coli 876 Ser-rich. OM_01087 R APC 324 broad.mit.edu 36 5 112203117 112203121 + Frame_Shift_Del DEL AAAGA - - LS1034_LARGE_INTESTINE Phase_I g.chr5:112203117_112203121delAAAGA uc010jby.1 + c.3927_3931delAAAGA c.(3925-3933)GAAAAGATTfs p.E1309fs APC_uc003kpz.2_Frame_Shift_Del_p.E1309fs|APC_uc003kpy.2_Frame_Shift_Del_p.E1309fs|APC_uc010jbz.1_Frame_Shift_Del_p.E1026fs|APC_uc010jca.1_Frame_Shift_Del_p.E609fs NM_001127511 NP_001120983 P25054 APC_HUMAN adenomatous polyposis coli 1309_1311 Ser-rich.|Responsible for down-regulation through a process mediated by direct ubiquitination. OM_01091 F APC 324 broad.mit.edu 36 5 112203475 112203475 + Nonsense_Mutation SNP C T T SW948_LARGE_INTESTINE Phase_I g.chr5:112203475C>T uc010jby.1 + c.4285C>T c.(4285-4287)CAA>TAA p.Q1429* APC_uc003kpz.2_Nonsense_Mutation_p.Q1429*|APC_uc003kpy.2_Nonsense_Mutation_p.Q1429*|APC_uc010jbz.1_Nonsense_Mutation_p.Q1146*|APC_uc010jca.1_Nonsense_Mutation_p.Q729* NM_001127511 NP_001120983 P25054 APC_HUMAN adenomatous polyposis coli 1429 Ser-rich. OM_01094 R APC 324 broad.mit.edu 36 5 112203475 112203475 + Nonsense_Mutation SNP C T T NCIH747_LARGE_INTESTINE Phase_I g.chr5:112203475C>T uc010jby.1 + c.4285C>T c.(4285-4287)CAA>TAA p.Q1429* APC_uc003kpz.2_Nonsense_Mutation_p.Q1429*|APC_uc003kpy.2_Nonsense_Mutation_p.Q1429*|APC_uc010jbz.1_Nonsense_Mutation_p.Q1146*|APC_uc010jca.1_Nonsense_Mutation_p.Q729* NM_001127511 NP_001120983 P25054 APC_HUMAN adenomatous polyposis coli 1429 Ser-rich. OM_01094 R FGFR2 2263 broad.mit.edu 36 10 123248024 123248024 + Missense_Mutation SNP A C C MFE296_ENDOMETRIUM Phase_I g.chr10:123248024A>C uc009xzo.1 - c.1650T>G c.(1648-1650)AAT>AAG p.N550K FGFR2_uc009xzp.1_Missense_Mutation_p.N549K|FGFR2_uc009xzq.1_Missense_Mutation_p.N452K|FGFR2_uc001lfj.2_Missense_Mutation_p.N451K|FGFR2_uc001lfm.1_Missense_Mutation_p.N478K|FGFR2_uc001lfg.2_Missense_Mutation_p.N157K|FGFR2_uc001lfl.2_Missense_Mutation_p.N112K NM_022970 NP_075259 P21802 FGFR2_HUMAN fibroblast growth factor receptor 2 isoform 2 549 Cytoplasmic (Potential).|Protein kinase. OM_01106 R FGFR2 2263 broad.mit.edu 36 10 123248024 123248024 + Missense_Mutation SNP A C C AN3CA_ENDOMETRIUM Phase_I g.chr10:123248024A>C uc009xzo.1 - c.1650T>G c.(1648-1650)AAT>AAG p.N550K FGFR2_uc009xzp.1_Missense_Mutation_p.N549K|FGFR2_uc009xzq.1_Missense_Mutation_p.N452K|FGFR2_uc001lfj.2_Missense_Mutation_p.N451K|FGFR2_uc001lfm.1_Missense_Mutation_p.N478K|FGFR2_uc001lfg.2_Missense_Mutation_p.N157K|FGFR2_uc001lfl.2_Missense_Mutation_p.N112K NM_022970 NP_075259 P21802 FGFR2_HUMAN fibroblast growth factor receptor 2 isoform 2 549 Cytoplasmic (Potential).|Protein kinase. OM_01106 R FGFR2 2263 broad.mit.edu 36 10 123269493 123269493 + Missense_Mutation SNP T C C AN3CA_ENDOMETRIUM Phase_I g.chr10:123269493T>C uc009xzo.1 - c.929A>G c.(928-930)AAG>AGG p.K310R FGFR2_uc009xzp.1_Missense_Mutation_p.K310R|FGFR2_uc009xzq.1_Missense_Mutation_p.K329R|FGFR2_uc001lfj.2_Missense_Mutation_p.K214R|FGFR2_uc001lfm.1_Missense_Mutation_p.K240R|FGFR2_uc009xzr.1_Intron|FGFR2_uc009xzs.1_Missense_Mutation_p.K214R|FGFR2_uc001lfn.2_Non-coding_Transcript|FGFR2_uc009xzt.1_Missense_Mutation_p.K240R|FGFR2_uc001lfo.1_Missense_Mutation_p.K329R|FGFR2_uc001lfg.2_5'Flank NM_022970 NP_075259 P21802 FGFR2_HUMAN fibroblast growth factor receptor 2 isoform 2 310 Ig-like C2-type 3.|Extracellular (Potential). OM_01108 F FGFR2 2263 broad.mit.edu 36 10 123264764 123264764 + Missense_Mutation SNP A G G JHUEM2_ENDOMETRIUM Phase_I g.chr10:123264764A>G uc009xzo.1 - c.1147T>C c.(1147-1149)TGC>CGC p.C383R FGFR2_uc009xzp.1_Missense_Mutation_p.C382R|FGFR2_uc009xzq.1_Intron|FGFR2_uc001lfj.2_Missense_Mutation_p.C286R|FGFR2_uc001lfm.1_Missense_Mutation_p.C313R|FGFR2_uc009xzr.1_Missense_Mutation_p.C289R|FGFR2_uc009xzs.1_Missense_Mutation_p.C286R|FGFR2_uc001lfn.2_Non-coding_Transcript|FGFR2_uc009xzt.1_Missense_Mutation_p.C313R|FGFR2_uc001lfg.2_5'UTR NM_022970 NP_075259 P21802 FGFR2_HUMAN fibroblast growth factor receptor 2 isoform 2 382 Helical; (Potential). OM_01111 R