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 WASH2P 375260 broad.mit.edu 37 2 114355097 114355097 + Silent SNP C C T TCGA-DJ-A3VB-01A-11D-A23M-08 TCGA-DJ-A3VB-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8ed773-385b-403c-84c7-b844e09dc4c1 0332cc08-f29e-466a-a43f-a653c565ab06 g.chr2:114355097C>T uc002tkh.3 + 3 532 c.474C>T c.(472-474)tcC>tcT p.S158S WASH2P_uc002tka.3_Non-coding_Transcript|WASH2P_uc002tkd.3_Non-coding_Transcript|WASH2P_uc010fkz.1_Non-coding_Transcript|WASH2P_uc002tkf.2_Non-coding_Transcript Homo sapiens WAS protein family homolog 2 pseudogene (WASH2P), non-coding RNA. TCGACCCCTCCGGTGGCCGGG 0.647000 7 15 0 0 1 0 0 GRK1 6011 broad.mit.edu 37 13 114324127 114324127 + Silent SNP C C T TCGA-DJ-A3VB-01A-11D-A23M-08 TCGA-DJ-A3VB-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8ed773-385b-403c-84c7-b844e09dc4c1 0332cc08-f29e-466a-a43f-a653c565ab06 g.chr13:114324127C>T uc010tkf.2 + 1 930 c.825C>T c.(823-825)atC>atT p.I275I NM_002929 NP_002920 Q15835 RK_HUMAN Homo sapiens G protein-coupled receptor kinase 1 (GRK1), mRNA. 275 Protein kinase. regulation of G-protein coupled receptor protein signaling pathway|rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway membrane ATP binding|G-protein coupled receptor kinase activity|rhodopsin kinase activity|signal transducer activity ovary(2) 2 Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839) all cancers(43;0.234) GAGGTGACATCAGGTAAGGGC 0.597000 7 139 0 0 1 0 0 SLC40A1 30061 broad.mit.edu 37 2 190439928 190439928 + Missense_Mutation SNP G G C rs28939076 TCGA-DJ-A3VB-01A-11D-A23M-08 TCGA-DJ-A3VB-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8ed773-385b-403c-84c7-b844e09dc4c1 0332cc08-f29e-466a-a43f-a653c565ab06 g.chr2:190439928G>C uc002uqp.4 - 2 581 c.230C>G c.(229-231)gCc>gGc p.A77G SLC40A1_uc002uqq.2_Missense_Mutation_p.A77G NM_014585 NP_055400 Q9NP59 S40A1_HUMAN Homo sapiens solute carrier family 40 (iron-regulated transporter), member 1 (SLC40A1), mRNA. 77 A -> D (in HFE4). anatomical structure morphogenesis|cellular iron ion homeostasis cytoplasm|integral to plasma membrane iron ion transmembrane transporter activity|protein binding endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491) ACCGATGATGGCTCCCAGGAC 0.493000 154 304 0 0 1 0 0 MYCBP2 23077 broad.mit.edu 37 13 77763175 77763175 + Missense_Mutation SNP T T C TCGA-DJ-A3VB-01A-11D-A23M-08 TCGA-DJ-A3VB-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8ed773-385b-403c-84c7-b844e09dc4c1 0332cc08-f29e-466a-a43f-a653c565ab06 g.chr13:77763175T>C uc021rks.1 - 29 4429 c.4162A>G c.(4162-4164)Acc>Gcc p.T1388A MYCBP2_uc010aev.3_Missense_Mutation_p.T754A NM_015057 NP_055872 O75592 MYCB2_HUMAN Homo sapiens MYC binding protein 2 (MYCBP2), mRNA. 1350 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) CCATCACTGGTTGGAAGTCTA 0.343000 29 42 0 0 1 0 0 MCM4 4173 broad.mit.edu 37 8 48883923 48883923 + Missense_Mutation SNP A A T TCGA-DJ-A3VB-01A-11D-A23M-08 TCGA-DJ-A3VB-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8ed773-385b-403c-84c7-b844e09dc4c1 0332cc08-f29e-466a-a43f-a653c565ab06 g.chr8:48883923A>T uc003xqk.2 + 12 2649 c.1823A>T c.(1822-1824)aAt>aTt p.N608I MCM4_uc003xql.2_Missense_Mutation_p.N608I|MCM4_uc011ldi.2_Missense_Mutation_p.N595I NM_182746 NP_877423 P33991 MCM4_HUMAN Homo sapiens minichromosome maintenance complex component 4 (MCM4), transcript variant 2, mRNA. 608 MCM. DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint MCM complex ATP binding|DNA binding|helicase activity|protein binding biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2) 44 all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354) TGTCAGCTCAATGCGCGCACC 0.498000 18 69 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-DJ-A3VB-01A-11D-A23M-08 TCGA-DJ-A3VB-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8ed773-385b-403c-84c7-b844e09dc4c1 0332cc08-f29e-466a-a43f-a653c565ab06 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 29 48 0 0 1 0 0 CCDC60 160777 broad.mit.edu 37 12 119916995 119916995 + Silent SNP C C T TCGA-DJ-A3VB-01A-11D-A23M-08 TCGA-DJ-A3VB-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8ed773-385b-403c-84c7-b844e09dc4c1 0332cc08-f29e-466a-a43f-a653c565ab06 g.chr12:119916995C>T uc001txe.3 + 3 903 c.438C>T c.(436-438)acC>acT p.T146T AF086288_uc001txf.3_Intron NM_178499 NP_848594 Q8IWA6 CCD60_HUMAN Homo sapiens coiled-coil domain containing 60 (CCDC60), mRNA. 146 endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.207) CCTCGCTAACCGAGGCTCACG 0.478000 32 43 0 0 1 0 0 FPGT-TNNI3K 100526835 broad.mit.edu 37 1 74715180 74715180 + Missense_Mutation SNP C C T rs79045456 TCGA-DJ-A3VB-01A-11D-A23M-08 TCGA-DJ-A3VB-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8ed773-385b-403c-84c7-b844e09dc4c1 0332cc08-f29e-466a-a43f-a653c565ab06 g.chr1:74715180C>T uc001dge.2 + 4 557 c.490C>T c.(490-492)Cgc>Tgc p.R164C FPGT-TNNI3K_uc001dgc.2_Missense_Mutation_p.R164C|FPGT-TNNI3K_uc001dgd.3_Missense_Mutation_p.R164C|FPGT-TNNI3K_uc001dgf.2_Missense_Mutation_p.R63C NM_001112808 NP_001106279 Q59H18 TNI3K_HUMAN Homo sapiens FPGT-TNNI3K readthrough (FPGT-TNNI3K), transcript variant 1, mRNA. 63 cytoplasm|nucleus ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding TTTAAATTACCGCACTGAAAA 0.333000 7 50 0 0 1 0 0 LRPAP1 4043 broad.mit.edu 37 4 3516526 3516526 + Missense_Mutation SNP C C T TCGA-DJ-A3VB-01A-11D-A23M-08 TCGA-DJ-A3VB-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8ed773-385b-403c-84c7-b844e09dc4c1 0332cc08-f29e-466a-a43f-a653c565ab06 g.chr4:3516526C>T uc003ghh.4 - 6 1049 c.964G>A c.(964-966)Gag>Aag p.E322K NM_002337 NP_002328 P30533 AMRP_HUMAN Homo sapiens low density lipoprotein receptor-related protein associated protein 1 (LRPAP1), mRNA. 322 LDL receptor binding (Potential). negative regulation of protein binding|negative regulation of very-low-density lipoprotein particle clearance|protein folding|vesicle-mediated transport cell surface|integral to membrane|plasma membrane asialoglycoprotein receptor activity|heparin binding|low-density lipoprotein particle receptor binding|receptor antagonist activity|unfolded protein binding|very-low-density lipoprotein particle receptor binding breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2) 14 UCEC - Uterine corpus endometrioid carcinoma (64;0.165) GCGTGCTTCTCGCGGCTGCGG 0.662000 42 87 0 0 1 0 0 ZNF630 57232 broad.mit.edu 37 X 47918136 47918136 + Silent SNP A A G TCGA-DJ-A3VB-01A-11D-A23M-08 TCGA-DJ-A3VB-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8ed773-385b-403c-84c7-b844e09dc4c1 0332cc08-f29e-466a-a43f-a653c565ab06 g.chrX:47918136A>G uc004div.4 - 4 1947 c.1695T>C c.(1693-1695)caT>caC p.H565H ZNF630_uc010nhz.1_Intron|ZNF630_uc022bvr.1_Silent_p.H551H|ZNF630_uc022bvs.1_Silent_p.H565H NM_001037735 NP_001032824 Q2M218 ZN630_HUMAN Homo sapiens zinc finger protein 630 (ZNF630), transcript variant 1, mRNA. 565 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|large_intestine(6)|lung(11)|ovary(1) 19 TCTCTCCAGTATGACCTCTCT 0.453000 4 15 0 0 1 0 0 EXOC3L2 90332 broad.mit.edu 37 19 45721473 45721473 + Missense_Mutation SNP C C T TCGA-DJ-A3VB-01A-11D-A23M-08 TCGA-DJ-A3VB-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8ed773-385b-403c-84c7-b844e09dc4c1 0332cc08-f29e-466a-a43f-a653c565ab06 g.chr19:45721473C>T uc002pay.1 - 6 686 c.645G>A c.(643-645)atG>atA p.M215I NM_138568 NP_612635 Q2M3D2 EX3L2_HUMAN Homo sapiens exocyst complex component 3-like 2 (EXOC3L2), mRNA. 215 endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 12 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00883) GCTCGTCCTGCATTCTGCGCA 0.667000 5 8 0 0 1 0 0 GPR139 124274 broad.mit.edu 37 16 20043241 20043241 + Missense_Mutation SNP C C T TCGA-DJ-A3VB-01A-11D-A23M-08 TCGA-DJ-A3VB-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8ed773-385b-403c-84c7-b844e09dc4c1 0332cc08-f29e-466a-a43f-a653c565ab06 g.chr16:20043241C>T uc002dgu.1 - 1 1040 c.878G>A c.(877-879)cGc>cAc p.R293H GPR139_uc010vaw.1_Missense_Mutation_p.R200H NM_001002911 NP_001002911 Q6DWJ6 GP139_HUMAN Homo sapiens G protein-coupled receptor 139 (GPR139), mRNA. 293 integral to membrane|plasma membrane p.R293R(1) autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 30 TGCCATGGTGCGGAACCGCTT 0.512000 75 141 0 0 1 0 0