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 AMPD2 271 broad.mit.edu 37 1 110170763 110170763 + Missense_Mutation SNP T T C TCGA-DJ-A1QD-01A-11D-A14W-08 TCGA-DJ-A1QD-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02432cdc-0578-4137-a58f-1283ba3cff5b c370d1ca-9037-4ff8-98a8-201c758d33a5 g.chr1:110170763T>C uc009wfh.1 + 10 1843 c.1301T>C c.(1300-1302)aTc>aCc p.I434T AMPD2_uc009wfg.1_Non-coding_Transcript|AMPD2_uc001dyb.1_Missense_Mutation_p.I353T|AMPD2_uc001dyc.1_Missense_Mutation_p.I434T|AMPD2_uc010ovr.1_Missense_Mutation_p.I359T|AMPD2_uc010ovs.1_Missense_Mutation_p.I316T|AMPD2_uc001dyd.1_Missense_Mutation_p.I315T|AMPD2_uc001dye.1_5'Flank NM_004037 NP_004028 Q01433 AMPD2_HUMAN Homo sapiens adenosine monophosphate deaminase 2 (AMPD2), transcript variant 1, mRNA. 434 purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding breast(1)|large_intestine(3)|ovary(2)|skin(1) 7 all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244) Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228) CTGCGCTTCATCAAGCGGGCA 0.597000 4 20 0 0 1 0 0 KLHL10 317719 broad.mit.edu 37 17 40001678 40001678 + Missense_Mutation SNP C C A TCGA-DJ-A1QD-01A-11D-A14W-08 TCGA-DJ-A1QD-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02432cdc-0578-4137-a58f-1283ba3cff5b c370d1ca-9037-4ff8-98a8-201c758d33a5 g.chr17:40001678C>A uc010cxr.3 + 2 1127 c.985C>A c.(985-987)Cgt>Agt p.R329S KLHL10_uc010wfv.1_Missense_Mutation_p.R323S|KLHL10_uc010wfw.2_Missense_Mutation_p.R241S NM_152467 NP_689680 Q6JEL2 KLH10_HUMAN Homo sapiens kelch-like 10 (Drosophila) (KLHL10), mRNA. 329 cytoplasm breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 26 Breast(137;0.000162) AGAGAGTCCCCGTGCCTACCA 0.493000 3 54 0 0 1 0 0 SPINK9 643394 broad.mit.edu 37 5 147716006 147716006 + Missense_Mutation SNP C C T TCGA-DJ-A1QD-01A-11D-A14W-08 TCGA-DJ-A1QD-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02432cdc-0578-4137-a58f-1283ba3cff5b c370d1ca-9037-4ff8-98a8-201c758d33a5 g.chr5:147716006C>T uc003lpe.1 + 1 132 c.77C>T c.(76-78)aCg>aTg p.T26M AK054753_uc003lpb.1_Intron NM_001040433 NP_001035523 Q5DT21 ISK9_HUMAN Homo sapiens serine peptidase inhibitor, Kazal type 9 (SPINK9), mRNA. 26 Kazal-like. extracellular region protein binding|serine-type endopeptidase inhibitor activity ovary(1)|urinary_tract(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCCAAACAGACGAAACAGATG 0.303000 24 88 0 0 1 0 0 KIAA1432 57589 broad.mit.edu 37 9 5765543 5765543 + Missense_Mutation SNP G G A TCGA-DJ-A1QD-01A-11D-A14W-08 TCGA-DJ-A1QD-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02432cdc-0578-4137-a58f-1283ba3cff5b c370d1ca-9037-4ff8-98a8-201c758d33a5 g.chr9:5765543G>A uc003zjl.4 + 18 3051 c.2860G>A c.(2860-2862)Gag>Aag p.E954K KIAA1432_uc003zjh.3_Missense_Mutation_p.E912K|KIAA1432_uc003zji.3_Missense_Mutation_p.E912K|KIAA1432_uc003zjj.1_Missense_Mutation_p.E454K NM_001206557 NP_001193486 Q4ADV7 RIC1_HUMAN Homo sapiens KIAA1432 (KIAA1432), transcript variant 3, mRNA. 991 integral to membrane breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1) 45 Acute lymphoblastic leukemia(23;0.154) GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122) TGGAGAATCTGAGACACCTCC 0.458000 17 168 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-DJ-A1QD-01A-11D-A14W-08 TCGA-DJ-A1QD-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02432cdc-0578-4137-a58f-1283ba3cff5b c370d1ca-9037-4ff8-98a8-201c758d33a5 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 18 41 0 0 1 0 0 VNN2 8875 broad.mit.edu 37 6 133070907 133070907 + Missense_Mutation SNP C C T TCGA-DJ-A1QD-01A-11D-A14W-08 TCGA-DJ-A1QD-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02432cdc-0578-4137-a58f-1283ba3cff5b c370d1ca-9037-4ff8-98a8-201c758d33a5 g.chr6:133070907C>T uc003qdt.3 - 5 1309 c.1298G>A c.(1297-1299)gGc>gAc p.G433D VNN2_uc003qds.3_Missense_Mutation_p.G142D|VNN2_uc010kgb.3_Missense_Mutation_p.G212D|VNN2_uc003qdv.3_Missense_Mutation_p.G380D NM_004665 NP_004656 O95498 VNN2_HUMAN Homo sapiens vanin 2 (VNN2), transcript variant 1, mRNA. 433 cellular component movement|pantothenate metabolic process anchored to membrane|plasma membrane pantetheine hydrolase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267) TCCAAATGTGCCACTGAGGGA 0.393000 3 40 0 0 1 0 0 TMEM176B 28959 broad.mit.edu 37 7 150493471 150493471 + Missense_Mutation SNP C C T rs141592438 byFrequency TCGA-DJ-A1QD-01A-11D-A14W-08 TCGA-DJ-A1QD-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02432cdc-0578-4137-a58f-1283ba3cff5b c370d1ca-9037-4ff8-98a8-201c758d33a5 g.chr7:150493471C>T uc022apx.1 - 0 313 c.187G>A c.(187-189)Gag>Aag p.E63K TMEM176B_uc003whu.4_Missense_Mutation_p.E63K|TMEM176B_uc003whv.4_Missense_Mutation_p.E63K|TMEM176B_uc003whw.4_Missense_Mutation_p.E63K NM_014020 NP_054739 Q3YBM2 T176B_HUMAN Homo sapiens transmembrane protein 176B (TMEM176B), transcript variant 1, mRNA. 63 cell differentiation|organ morphogenesis integral to membrane|nuclear membrane p.E63Q(2) cervix(1)|large_intestine(4)|lung(10)|ovary(1)|skin(3) 19 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GCCAGCTGCTCATAACCAATC 0.498000 21 36 0 0 1 0 0 BIN2 51411 broad.mit.edu 37 12 51696492 51696492 + Missense_Mutation SNP T T C TCGA-DJ-A1QD-01A-11D-A14W-08 TCGA-DJ-A1QD-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02432cdc-0578-4137-a58f-1283ba3cff5b c370d1ca-9037-4ff8-98a8-201c758d33a5 g.chr12:51696492T>C uc001ryg.3 - 3 342 c.290A>G c.(289-291)gAg>gGg p.E97G BIN2_uc009zlz.3_Missense_Mutation_p.E97G|BIN2_uc001ryh.3_5'UTR|BIN2_uc010sng.2_Missense_Mutation_p.E71G NM_016293 NP_057377 Q9UBW5 BIN2_HUMAN Homo sapiens bridging integrator 2 (BIN2), mRNA. 97 BAR. cytoplasm protein binding NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3) 31 CTTCAGCTCCTCATGACCGTC 0.468000 3 164 0 0 1 0 0 ACAN 176 broad.mit.edu 37 15 89401667 89401667 + Missense_Mutation SNP G G A TCGA-DJ-A1QD-01A-11D-A14W-08 TCGA-DJ-A1QD-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02432cdc-0578-4137-a58f-1283ba3cff5b c370d1ca-9037-4ff8-98a8-201c758d33a5 g.chr15:89401667G>A uc010upo.1 + 11 6225 c.5851G>A c.(5851-5853)Gcc>Acc p.A1951T ACAN_uc010upp.1_Missense_Mutation_p.A1951T|ACAN_uc002bna.2_Non-coding_Transcript NM_013227 NP_037359 E7EX88 E7EX88_HUMAN Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA. 1951 cell adhesion hyaluronic acid binding|sugar binding NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) GGCTCCAACAGCCCAAGAGGC 0.517000 13 64 0 0 1 0 0 CCDC132 55610 broad.mit.edu 37 7 92869233 92869233 + Missense_Mutation SNP C C T TCGA-DJ-A1QD-01A-11D-A14W-08 TCGA-DJ-A1QD-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02432cdc-0578-4137-a58f-1283ba3cff5b c370d1ca-9037-4ff8-98a8-201c758d33a5 g.chr7:92869233C>T uc003umo.3 + 1 216 c.88C>T c.(88-90)Cgg>Tgg p.R30W CCDC132_uc003ump.3_5'UTR|CCDC132_uc003umr.3_Non-coding_Transcript|CCDC132_uc011khz.2_Missense_Mutation_p.R30W|CCDC132_uc003umn.3_Missense_Mutation_p.R30W NM_017667 NP_060137 Q96JG6 CC132_HUMAN Homo sapiens coiled-coil domain containing 132 (CCDC132), transcript variant 1, mRNA. 30 endometrium(1)|large_intestine(2)|lung(5) 8 all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837) STAD - Stomach adenocarcinoma(171;0.000302) AGAGAGTCTCCGGGTCCCTGG 0.393000 3 79 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228437938 228437938 + Missense_Mutation SNP G G A TCGA-DJ-A1QD-01A-11D-A14W-08 TCGA-DJ-A1QD-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02432cdc-0578-4137-a58f-1283ba3cff5b c370d1ca-9037-4ff8-98a8-201c758d33a5 g.chr1:228437938G>A uc009xez.1 + 13 4350 c.4306G>A c.(4306-4308)Gca>Aca p.A1436T OBSCN_uc001hsn.3_Missense_Mutation_p.A1436T NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA. 1436 apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction M band|Z disc|cytosol ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) CCTGGACGTGGCAGGTCAGTG 0.632000 4 106 0 0 1 0 0