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 PDZD11 51248 broad.mit.edu 37 X 69508002 69508002 + Missense_Mutation SNP C C T TCGA-EM-A3AR-01A-12D-A20C-08 TCGA-EM-A3AR-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26896f50-4aff-406e-91d5-d18ada7ae17a 92d7e25d-a9de-49e2-800c-0ab703ae1582 g.chrX:69508002C>T uc004dye.1 - 3 534 c.289G>A c.(289-291)Gga>Aga p.G97R KIF4A_uc004dyg.3_5'Flank|KIF4A_uc010nkw.3_5'Flank|PDZD11_uc004dyd.1_Missense_Mutation_p.G65R|KIF4A_uc004dyf.2_5'Flank NM_016484 NP_057568 Q5EBL8 PDZ11_HUMAN Homo sapiens PDZ domain containing 11 (PDZD11), mRNA. 65 PDZ. basolateral plasma membrane|cytosol|extracellular region protein C-terminus binding breast(1)|endometrium(2)|large_intestine(3)|lung(3) 9 GAGGCCTTTCCTCCTCGGATG 0.438000 3 21 0 0 1 0 0 COL27A1 85301 broad.mit.edu 37 9 116930153 116930153 + Silent SNP C C T TCGA-EM-A3AR-01A-12D-A20C-08 TCGA-EM-A3AR-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26896f50-4aff-406e-91d5-d18ada7ae17a 92d7e25d-a9de-49e2-800c-0ab703ae1582 g.chr9:116930153C>T uc011lxl.2 + 2 318 c.318C>T c.(316-318)tcC>tcT p.S106S COL27A1_uc004bii.3_Non-coding_Transcript|COL27A1_uc010mvd.2_5'UTR NM_032888 NP_116277 Q8IZC6 CORA1_HUMAN Homo sapiens collagen, type XXVII, alpha 1 (COL27A1), mRNA. 106 Laminin G-like.|TSP N-terminal. cell adhesion extracellular matrix structural constituent central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3) 80 GCCTCTGCTCCCACCGGGTGA 0.662000 24 129 0 0 1 0 0 LRP1 4035 broad.mit.edu 37 12 57605751 57605751 + Missense_Mutation SNP C C G TCGA-EM-A3AR-01A-12D-A20C-08 TCGA-EM-A3AR-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26896f50-4aff-406e-91d5-d18ada7ae17a 92d7e25d-a9de-49e2-800c-0ab703ae1582 g.chr12:57605751C>G uc001snd.3 + 86 13766 c.13300C>G c.(13300-13302)Ctg>Gtg p.L4434V NM_002332 NP_002323 Q07954 LRP1_HUMAN Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA. 4434 aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) GCTGCTGCTGCTGGTTCTGGT 0.547000 4 225 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-EM-A3AR-01A-12D-A20C-08 TCGA-EM-A3AR-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26896f50-4aff-406e-91d5-d18ada7ae17a 92d7e25d-a9de-49e2-800c-0ab703ae1582 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 8 64 0 0 1 0 0 MYLK3 91807 broad.mit.edu 37 16 46764581 46764581 + Nonsense_Mutation SNP C C A TCGA-EM-A3AR-01A-12D-A20C-08 TCGA-EM-A3AR-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26896f50-4aff-406e-91d5-d18ada7ae17a 92d7e25d-a9de-49e2-800c-0ab703ae1582 g.chr16:46764581C>A uc002eei.4 - 4 1608 c.1492G>T c.(1492-1494)Gaa>Taa p.E498* MYLK3_uc010vge.2_Nonsense_Mutation_p.E157*|MYLK3_uc002eej.1_Nonsense_Mutation_p.E157* NM_182493 NP_872299 Q32MK0 MYLK3_HUMAN Homo sapiens myosin light chain kinase 3 (MYLK3), mRNA. 498 cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis cytosol ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3) 37 all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116) ACCCGGTGTTCAAAAGGAGCT 0.597000 5 178 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179412318 179412318 + Missense_Mutation SNP T T C TCGA-EM-A3AR-01A-12D-A20C-08 TCGA-EM-A3AR-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26896f50-4aff-406e-91d5-d18ada7ae17a 92d7e25d-a9de-49e2-800c-0ab703ae1582 g.chr2:179412318T>C uc021vsy.1 - 287 86556 c.86331A>G c.(86329-86331)atA>atG p.I28777M MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.I22472M|TTN_uc021vta.1_Missense_Mutation_p.I22405M|TTN_uc021vtb.1_Missense_Mutation_p.I22280M NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 29704 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GCTTTTCAACTATGTAATTAG 0.443000 3 87 0 0 1 0 0 KCNIP3 30818 broad.mit.edu 37 2 96047380 96047380 + Missense_Mutation SNP A A G TCGA-EM-A3AR-01A-12D-A20C-08 TCGA-EM-A3AR-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26896f50-4aff-406e-91d5-d18ada7ae17a 92d7e25d-a9de-49e2-800c-0ab703ae1582 g.chr2:96047380A>G uc002sup.3 + 5 599 c.484A>G c.(484-486)Aca>Gca p.T162A KCNIP3_uc002suq.3_Missense_Mutation_p.T136A NM_013434 NP_038462 Q9Y2W7 CSEN_HUMAN Homo sapiens Kv channel interacting protein 3, calsenilin (KCNIP3), transcript variant 1, mRNA. 162 EF-hand 3. apoptosis|signal transduction|transcription, DNA-dependent Golgi apparatus|endoplasmic reticulum|nucleus|plasma membrane DNA binding|calcium ion binding|potassium channel activity|transcription corepressor activity|voltage-gated ion channel activity NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 16 READ - Rectum adenocarcinoma(193;0.13) GCTGCGGGGCACAGTCCACGA 0.542000 9 81 0 0 1 0 0 ZMIZ2 83637 broad.mit.edu 37 7 44797683 44797683 + Missense_Mutation SNP G G C TCGA-EM-A3AR-01A-12D-A20C-08 TCGA-EM-A3AR-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26896f50-4aff-406e-91d5-d18ada7ae17a 92d7e25d-a9de-49e2-800c-0ab703ae1582 g.chr7:44797683G>C uc003tlr.3 + 5 912 c.789G>C c.(787-789)caG>caC p.Q263H ZMIZ2_uc003tlq.3_Missense_Mutation_p.Q231H|ZMIZ2_uc003tls.3_Missense_Mutation_p.Q263H|ZMIZ2_uc003tlt.3_5'Flank|ZMIZ2_uc010kyj.3_5'Flank NM_031449 NP_113637 Q8NF64 ZMIZ2_HUMAN Homo sapiens zinc finger, MIZ-type containing 2 (ZMIZ2), transcript variant 1, mRNA. 263 Pro-rich. 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 TGCCCCGACAGGGGGTCAAGA 0.612000 18 91 0 0 1 0 0 ABCG8 64241 broad.mit.edu 37 2 44099167 44099167 + Silent SNP G G A TCGA-EM-A3AR-01A-12D-A20C-08 TCGA-EM-A3AR-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26896f50-4aff-406e-91d5-d18ada7ae17a 92d7e25d-a9de-49e2-800c-0ab703ae1582 g.chr2:44099167G>A uc002rtq.3 + 6 1107 c.1017G>A c.(1015-1017)agG>agA p.R339R ABCG8_uc010yoa.2_Silent_p.R339R NM_022437 NP_071882 Q9H221 ABCG8_HUMAN Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 8 (ABCG8), mRNA. 339 cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption apical plasma membrane|integral to membrane ATP binding|ATPase activity|protein heterodimerization activity NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 45 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) TGGCCACCAGGGAGAAGGCTC 0.547000 11 93 0 0 1 0 0 C15orf37 283687 broad.mit.edu 37 15 80215424 80215425 + Frame_Shift_Del DEL CC CC - TCGA-EM-A3AR-01A-12D-A20C-08 TCGA-EM-A3AR-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26896f50-4aff-406e-91d5-d18ada7ae17a 92d7e25d-a9de-49e2-800c-0ab703ae1582 g.chr15:80215424_80215425delCC uc002bfb.2 + 0 312_313 c.309_310delCC c.(307-312)ctccggfs p.L103fs MTHFS_uc021sru.1_Intron|MTHFS_uc002bfa.4_Intron|MTHFS_uc021srr.1_5'UTR|MTHFS_uc021srs.1_Intron|MTHFS_uc021srt.1_Intron Homo sapiens chromosome 15 open reading frame 37 (C15orf37), non-coding RNA. kidney(1)|lung(1)|stomach(1) 3 GAGGGATCCTCCGGGACGTCCT 0.718 2 4 --- --- --- ---