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 Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position 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 UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut RC3H2 54542 broad.mit.edu 37 9 125639844 125639844 + Missense_Mutation SNP A A G TCGA-EM-A22I-01A-11D-A17V-08 TCGA-EM-A22I-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0636a7b-490a-44e0-8512-062c989896ce db5dcc71-4c5c-4843-9048-3c25cf68feb4 g.chr9:125639844A>G uc010mwc.1 - 8 1472 c.1231T>C c.(1231-1233)Tac>Cac p.Y411H RC3H2_uc004bnc.2_Non-coding_Transcript|RC3H2_uc004bnd.1_Missense_Mutation_p.Y411H|RC3H2_uc004bne.4_Missense_Mutation_p.Y411H|RC3H2_uc011lzf.2_Missense_Mutation_p.Y148H|RC3H2_uc011lzg.2_Missense_Mutation_p.Y411H NM_001100588 NP_001094058 Q9HBD1 RC3H2_HUMAN Homo sapiens ring finger and CCCH-type domains 2 (RC3H2), transcript variant 1, mRNA. 411 cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm DNA binding|zinc ion binding p.Y411*(1) breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 33 CTAGTCTTGTATTTGCTGTTT 0.418000 7 176 0 0 1 0 0 CACNB1 782 broad.mit.edu 37 17 37333738 37333738 + Silent SNP C C T TCGA-EM-A22I-01A-11D-A17V-08 TCGA-EM-A22I-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0636a7b-490a-44e0-8512-062c989896ce db5dcc71-4c5c-4843-9048-3c25cf68feb4 g.chr17:37333738C>T uc002hrm.2 - 12 1405 c.1197G>A c.(1195-1197)gaG>gaA p.E399E CACNB1_uc002hrl.1_Silent_p.E171E|CACNB1_uc002hrn.3_Silent_p.E399E|CACNB1_uc002hro.3_Silent_p.E444E NM_000723 NP_000714 Q02641 CACB1_HUMAN Homo sapiens calcium channel, voltage-dependent, beta 1 subunit (CACNB1), transcript variant 1, mRNA. 399 axon guidance voltage-gated calcium channel complex breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1) 16 Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Verapamil(DB00661) CCGCCAGATGCTCGCAGGCAT 0.607000 16 27 0 0 1 0 0 ARFGEF2 10564 broad.mit.edu 37 20 47621731 47621731 + Missense_Mutation SNP C C T TCGA-EM-A22I-01A-11D-A17V-08 TCGA-EM-A22I-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0636a7b-490a-44e0-8512-062c989896ce db5dcc71-4c5c-4843-9048-3c25cf68feb4 g.chr20:47621731C>T uc002xtx.4 + 25 3709 c.3557C>T c.(3556-3558)cCc>cTc p.P1186L ARFGEF2_uc010zyf.2_Missense_Mutation_p.P479L NM_006420 NP_006411 Q9Y6D5 BIG2_HUMAN Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) (ARFGEF2), mRNA. 1186 exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction Golgi membrane|cytosol ARF guanyl-nucleotide exchange factor activity breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 63 BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198) TTTCTGAGGCCCTTTGAGCAT 0.448000 12 91 0 0 1 0 0 ZFHX3 463 broad.mit.edu 37 16 72831798 72831798 + Missense_Mutation SNP G G C TCGA-EM-A22I-01A-11D-A17V-08 TCGA-EM-A22I-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0636a7b-490a-44e0-8512-062c989896ce db5dcc71-4c5c-4843-9048-3c25cf68feb4 g.chr16:72831798G>C uc002fck.3 - 8 5456 c.4783C>G c.(4783-4785)Cct>Gct p.P1595A ZFHX3_uc002fcl.3_Missense_Mutation_p.P681A NM_006885 NP_008816 Q15911 ZFHX3_HUMAN Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA. 1595 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding p.P1595L(1) NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) CACTTAAAAGGTTTGTTGTCT 0.488000 21 48 0 0 1 0 0 PKD1L1 168507 broad.mit.edu 37 7 47944122 47944122 + Missense_Mutation SNP C C T TCGA-EM-A22I-01A-11D-A17V-08 TCGA-EM-A22I-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0636a7b-490a-44e0-8512-062c989896ce db5dcc71-4c5c-4843-9048-3c25cf68feb4 g.chr7:47944122C>T uc003tny.2 - 11 1818 c.1784G>A c.(1783-1785)cGg>cAg p.R595Q NM_138295 NP_612152 Q8TDX9 PK1L1_HUMAN Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA. 595 PKD 2. cell-cell adhesion integral to membrane p.R595W(1) BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 GGACGTGAGCCGATTGGCCAC 0.537000 15 39 0 0 1 0 0 RBM11 54033 broad.mit.edu 37 21 15599326 15599326 + Silent SNP A A G TCGA-EM-A22I-01A-11D-A17V-08 TCGA-EM-A22I-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0636a7b-490a-44e0-8512-062c989896ce db5dcc71-4c5c-4843-9048-3c25cf68feb4 g.chr21:15599326A>G uc002yjo.4 + 4 600 c.558A>G c.(556-558)tcA>tcG p.S186S RBM11_uc002yjn.4_Silent_p.S72S|RBM11_uc002yjp.4_Silent_p.S72S NM_144770 NP_658983 P57052 RBM11_HUMAN Homo sapiens RNA binding motif protein 11 (RBM11), mRNA. 186 RNA binding|nucleotide binding endometrium(3)|kidney(3)|lung(7)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 16 Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141) GACCCAGCTCATATAAATGGA 0.453000 7 199 0 0 1 0 0 C10orf99 387695 broad.mit.edu 37 10 85944480 85944480 + Silent SNP G G A TCGA-EM-A22I-01A-11D-A17V-08 TCGA-EM-A22I-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0636a7b-490a-44e0-8512-062c989896ce db5dcc71-4c5c-4843-9048-3c25cf68feb4 g.chr10:85944480G>A uc001kcu.3 + 2 258 c.204G>A c.(202-204)gaG>gaA p.E68E NM_207373 NP_997256 Q6UWK7 CJ099_HUMAN Homo sapiens chromosome 10 open reading frame 99 (C10orf99), mRNA. 68 extracellular region p.P67>?(1) endometrium(1)|lung(1)|pancreas(1)|prostate(1) 4 TTGAGCCAGAGCCCCGCCTTT 0.577000 5 60 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-EM-A22I-01A-11D-A17V-08 TCGA-EM-A22I-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0636a7b-490a-44e0-8512-062c989896ce db5dcc71-4c5c-4843-9048-3c25cf68feb4 g.chr7:140453136A>T uc003vwc.4 - 14 1860 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA. 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 9 25 0 0 1 0 0 HCFC1 3054 broad.mit.edu 37 X 153228845 153228845 + Silent SNP G G A TCGA-EM-A22I-01A-11D-A17V-08 TCGA-EM-A22I-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0636a7b-490a-44e0-8512-062c989896ce db5dcc71-4c5c-4843-9048-3c25cf68feb4 g.chrX:153228845G>A uc004fjp.3 - 3 1071 c.543C>T c.(541-543)ggC>ggT p.G181G NM_005334 NP_005325 P51610 HCFC1_HUMAN Homo sapiens host cell factor C1 (VP16-accessory protein) (HCFC1), mRNA. 181 cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter MLL1 complex|MLL5-L complex|Set1C/COMPASS complex|mitochondrion chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CCACTCCAGAGCCTGGCCGTA 0.527000 24 44 0 0 1 0 0 LRRCC1 85444 broad.mit.edu 37 8 86050374 86050374 + Missense_Mutation SNP T T A TCGA-EM-A22I-01A-11D-A17V-08 TCGA-EM-A22I-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0636a7b-490a-44e0-8512-062c989896ce db5dcc71-4c5c-4843-9048-3c25cf68feb4 g.chr8:86050374T>A uc003ycw.3 + 15 2806 c.2598T>A c.(2596-2598)gaT>gaA p.D866E LRRCC1_uc022awx.1_Missense_Mutation_p.D773E|LRRCC1_uc010maa.2_Missense_Mutation_p.D567E|LRRCC1_uc003ycy.3_Missense_Mutation_p.D846E NM_033402 NP_208325 Q9C099 LRCC1_HUMAN Homo sapiens leucine rich repeat and coiled-coil domain containing 1 (LRRCC1), mRNA. 866 cell division|mitosis centriole|nucleus breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2) 43 CACAACTGGATGAGGTACTTG 0.318000 11 12 0 0 1 0 0 ANAPC2 29882 broad.mit.edu 37 9 140074764 140074765 + Missense_Mutation DNP GC GC AT TCGA-EM-A22I-01A-11D-A17V-08 TCGA-EM-A22I-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0636a7b-490a-44e0-8512-062c989896ce db5dcc71-4c5c-4843-9048-3c25cf68feb4 g.chr9:140074764_140074765GC>AT uc004clr.1 - 9 1831_1832 c.1758_1759GC>AT c.(1756-1761)cagcca>caATca p.P587S ANAPC2_uc004clq.1_Missense_Mutation_p.P443S NM_013366 NP_037498 Q9UJX6 ANC2_HUMAN Homo sapiens anaphase promoting complex subunit 2 (ANAPC2), mRNA. 587 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity anaphase-promoting complex|cytosol|nucleoplasm ubiquitin protein ligase binding|ubiquitin-protein ligase activity breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1) 15 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0698) OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858) CCGAACGGTGGCTGCTCCTCTG 0.644000 4 77 0 0 1 0 0 OPLAH 26873 broad.mit.edu 37 8 145113595 145113595 + Splice_Site SNP C C T TCGA-EM-A22I-01A-11D-A17V-08 TCGA-EM-A22I-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0636a7b-490a-44e0-8512-062c989896ce db5dcc71-4c5c-4843-9048-3c25cf68feb4 g.chr8:145113595C>T uc003zar.3 - 6 670 c.588_splice c.e6-1 p.T196_splice OPLAH_uc003zat.1_Splice_Site NM_017570 NP_060040 O14841 OPLA_HUMAN Homo sapiens 5-oxoprolinase (ATP-hydrolysing) (OPLAH), mRNA. 196 5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 20 all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) L-Glutamic Acid(DB00142) CTGGGCCCACCTATGACAAAA 0.657000 4 21 0 0 1 0 0