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 HIGD1A 25994 broad.mit.edu 37 3 42845665 42845665 + Splice_Site SNP C C T TCGA-ET-A25G-01A-11D-A16O-08 TCGA-ET-A25G-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5fe7249-10b3-4a0b-96dc-be4c7d3e5c8c 41324b55-de97-4320-b264-4073c08443e1 g.chr3:42845665C>T uc010hid.3 - 1 271 c.20_splice c.e1+1 p.E7_splice CCBP2_uc003cmc.1_5'Flank|HIGD1A_uc003cma.4_Intron|HIGD1A_uc003cmb.4_Intron NM_001099668 NP_054775 Q9Y241 HIG1A_HUMAN Homo sapiens HIG1 hypoxia inducible domain family, member 1A (HIGD1A), transcript variant 1, mRNA. 0 HIG1. response to stress integral to membrane|protein complex protein binding lung(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.217) GCAACTCACTCCACAAGCTTC 0.672000 46 109 0 0 1 0 0 ZMIZ2 83637 broad.mit.edu 37 7 44805072 44805072 + Silent SNP C C G TCGA-ET-A25G-01A-11D-A16O-08 TCGA-ET-A25G-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5fe7249-10b3-4a0b-96dc-be4c7d3e5c8c 41324b55-de97-4320-b264-4073c08443e1 g.chr7:44805072C>G uc003tlr.3 + 15 2259 c.2136C>G c.(2134-2136)ctC>ctG p.L712L ZMIZ2_uc003tlq.3_Silent_p.L654L|ZMIZ2_uc003tls.3_Silent_p.L686L|ZMIZ2_uc003tlt.3_Silent_p.L335L|ZMIZ2_uc010kyj.3_Silent_p.L234L|ZMIZ2_uc003tlu.3_5'Flank NM_031449 NP_113637 Q8NF64 ZMIZ2_HUMAN Homo sapiens zinc finger, MIZ-type containing 2 (ZMIZ2), transcript variant 1, mRNA. 712 positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear replication fork ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 CCCACGTGCTCATGCCCAGCG 0.701000 13 23 0 0 1 0 0 CLCA1 1179 broad.mit.edu 37 1 86959123 86959123 + Silent SNP C C T TCGA-ET-A25G-01A-11D-A16O-08 TCGA-ET-A25G-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5fe7249-10b3-4a0b-96dc-be4c7d3e5c8c 41324b55-de97-4320-b264-4073c08443e1 g.chr1:86959123C>T uc001dlt.3 + 9 1781 c.1521C>T c.(1519-1521)atC>atT p.I507I CLCA1_uc001dls.1_Silent_p.I446I NM_001285 NP_001276 A8K7I4 CLCA1_HUMAN Homo sapiens chloride channel accessory 1 (CLCA1), mRNA. 507 calcium ion transport extracellular space|integral to plasma membrane chloride channel activity NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 Lung NSC(277;0.239) all cancers(265;0.0249)|Epithelial(280;0.0476) GCACAGTGATCGTGGACAGCA 0.493000 8 86 0 0 1 0 0 C11orf63 79864 broad.mit.edu 37 11 122805462 122805462 + Missense_Mutation SNP C C T TCGA-ET-A25G-01A-11D-A16O-08 TCGA-ET-A25G-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5fe7249-10b3-4a0b-96dc-be4c7d3e5c8c 41324b55-de97-4320-b264-4073c08443e1 g.chr11:122805462C>T uc001pym.3 + 4 1610 c.1313C>T c.(1312-1314)aCc>aTc p.T438I NM_024806 NP_079082 Q6NUN7 CK063_HUMAN Homo sapiens chromosome 11 open reading frame 63 (C11orf63), transcript variant 1, mRNA. 438 breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1) 47 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311) CTCAAAGAAACCTCCAATACA 0.398000 30 40 0 0 1 0 0 O3FAR1 338557 broad.mit.edu 37 10 95347003 95347003 + Silent SNP C C T TCGA-ET-A25G-01A-11D-A16O-08 TCGA-ET-A25G-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5fe7249-10b3-4a0b-96dc-be4c7d3e5c8c 41324b55-de97-4320-b264-4073c08443e1 g.chr10:95347003C>T uc010qnt.2 + 3 827 c.771C>T c.(769-771)ctC>ctT p.L257L O3FAR1_uc010qnu.2_Silent_p.L241L NM_181745 NP_859529 Q5NUL3 O3FA1_HUMAN Homo sapiens omega-3 fatty acid receptor 1 (O3FAR1), transcript variant 1, mRNA. 257 negative regulation of cytokine secretion|negative regulation of inflammatory response|regulation of glucose transport integral to membrane|plasma membrane fatty acid binding breast(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2) 12 GGAAGAGGCTCACGGTAAGCC 0.567000 4 68 0 0 1 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110396357 110396357 + Splice_Site SNP G G A TCGA-ET-A25G-01A-11D-A16O-08 TCGA-ET-A25G-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5fe7249-10b3-4a0b-96dc-be4c7d3e5c8c 41324b55-de97-4320-b264-4073c08443e1 g.chr8:110396357G>A uc003yne.3 + 5 579 c.475_splice c.e5+1 p.G159_splice NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA. 159 IPT/TIG 2. immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) GGAACTCCAGGTCTGTTATAT 0.279000 HNSCC(38;0.096) 8 171 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-ET-A25G-01A-11D-A16O-08 TCGA-ET-A25G-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5fe7249-10b3-4a0b-96dc-be4c7d3e5c8c 41324b55-de97-4320-b264-4073c08443e1 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 34 53 0 0 1 0 0 PABPC3 5042 broad.mit.edu 37 13 25670442 25670442 + Missense_Mutation SNP C C T TCGA-ET-A25G-01A-11D-A16O-08 TCGA-ET-A25G-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5fe7249-10b3-4a0b-96dc-be4c7d3e5c8c 41324b55-de97-4320-b264-4073c08443e1 g.chr13:25670442C>T uc001upy.3 + 0 167 c.106C>T c.(106-108)Ccc>Tcc p.P36S NM_030979 NP_112241 Q9H361 PABP3_HUMAN Homo sapiens poly(A) binding protein, cytoplasmic 3 (PABPC3), mRNA. 36 RRM 1. mRNA metabolic process cytoplasm nucleotide binding|poly(A) RNA binding breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3) 47 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241) CCCGGCAGGGCCCATCCTCTC 0.627000 30 45 0 0 1 0 0 MIR1275 100302123 broad.mit.edu 37 6 33967792 33967792 + RNA SNP C C T TCGA-ET-A25G-01A-11D-A16O-08 TCGA-ET-A25G-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5fe7249-10b3-4a0b-96dc-be4c7d3e5c8c 41324b55-de97-4320-b264-4073c08443e1 g.chr6:33967792C>T uc021yyr.1 - 0 c.37G>A Homo sapiens microRNA 1275 (MIR1275), microRNA. CTTACAGACACAAGACAGCCT 0.522000 24 42 0 0 1 0 0 MPDZ 8777 broad.mit.edu 37 9 13217196 13217196 + Missense_Mutation SNP A A G TCGA-ET-A25G-01A-11D-A16O-08 TCGA-ET-A25G-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5fe7249-10b3-4a0b-96dc-be4c7d3e5c8c 41324b55-de97-4320-b264-4073c08443e1 g.chr9:13217196A>G uc010mhy.3 - 7 1241 c.1184T>C c.(1183-1185)aTt>aCt p.I395T MPDZ_uc010mhz.3_Missense_Mutation_p.I395T|MPDZ_uc011lmn.2_Missense_Mutation_p.I395T|MPDZ_uc003zlb.4_Missense_Mutation_p.I395T|MPDZ_uc010mia.1_Missense_Mutation_p.I395T NM_003829 NP_003820 O75970 MPDZ_HUMAN Homo sapiens multiple PDZ domain protein (MPDZ), mRNA. 395 PDZ 3. interspecies interaction between organisms apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction protein C-terminus binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2) 61 GBM - Glioblastoma multiforme(50;2.03e-06) TTTATCTCCAATGTAGCCAGC 0.303000 15 17 0 0 1 0 0 ARHGAP18 93663 broad.mit.edu 37 6 129920497 129920497 + Missense_Mutation SNP G G A TCGA-ET-A25G-01A-11D-A16O-08 TCGA-ET-A25G-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5fe7249-10b3-4a0b-96dc-be4c7d3e5c8c 41324b55-de97-4320-b264-4073c08443e1 g.chr6:129920497G>A uc003qbr.3 - 11 1666 c.1577C>T c.(1576-1578)cCc>cTc p.P526L ARHGAP18_uc011ebw.2_Missense_Mutation_p.P526L NM_033515 NP_277050 Q8N392 RHG18_HUMAN Homo sapiens Rho GTPase activating protein 18 (ARHGAP18), mRNA. 526 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3) 18 OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074) AATAAACTTGGGAATCTATAG 0.294000 12 36 0 0 1 0 0 ZSCAN20 7579 broad.mit.edu 37 1 33944900 33944900 + Missense_Mutation SNP C C T TCGA-ET-A25G-01A-11D-A16O-08 TCGA-ET-A25G-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5fe7249-10b3-4a0b-96dc-be4c7d3e5c8c 41324b55-de97-4320-b264-4073c08443e1 g.chr1:33944900C>T uc001bxj.4 + 1 178 c.11C>T c.(10-12)gCc>gTc p.A4V ZSCAN20_uc001bxk.2_Missense_Mutation_p.A4V|ZSCAN20_uc009vui.3_Missense_Mutation_p.A4V NM_145238 NP_660281 P17040 ZSC20_HUMAN Homo sapiens zinc finger and SCAN domain containing 20 (ZSCAN20), mRNA. 4 viral reproduction mitochondrion|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1) 31 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211) ATGGCTATGGCCCTGGAATTG 0.512000 38 56 0 0 1 0 0 COL6A2 1292 broad.mit.edu 37 21 47538972 47538972 + Missense_Mutation SNP G G A TCGA-ET-A25G-01A-11D-A16O-08 TCGA-ET-A25G-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5fe7249-10b3-4a0b-96dc-be4c7d3e5c8c 41324b55-de97-4320-b264-4073c08443e1 g.chr21:47538972G>A uc002zia.1 + 13 1290 c.1208G>A c.(1207-1209)gGa>gAa p.G403E COL6A2_uc002zhz.1_Missense_Mutation_p.G403E|COL6A2_uc002zhy.1_Missense_Mutation_p.G403E NM_001849 NP_001840 P12110 CO6A2_HUMAN Homo sapiens collagen, type VI, alpha 2 (COL6A2), transcript variant 2C2, mRNA. 403 Triple-helical region. axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization collagen|extracellular space|protein complex extracellular matrix structural constituent|protein binding, bridging NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 43 Breast(49;0.245) Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649) GGAGCCCCAGGAAGTCCTGGT 0.677000 10 17 0 0 1 0 0