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 CSMD2 114784 broad.mit.edu 37 1 34011735 34011735 + Missense_Mutation SNP A A G TCGA-EL-A3GO-01A-11D-A202-08 TCGA-EL-A3GO-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx bab12837-68d0-46ce-aa87-dd90e0c39b96 3a4370da-15f0-4613-86b2-1cb033d7dd6e g.chr1:34011735A>G uc001bxm.1 - 56 9179 c.9002T>C c.(9001-9003)aTg>aCg p.M3001T CSMD2_uc001bxn.1_Missense_Mutation_p.M2857T NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA. 2974 Sushi 22. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) GCTGAAGCGCATCACAGTGCC 0.617000 34 24 0 0 1 0 0 HEATR6 63897 broad.mit.edu 37 17 58143675 58143675 + Missense_Mutation SNP T T A TCGA-EL-A3GO-01A-11D-A202-08 TCGA-EL-A3GO-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx bab12837-68d0-46ce-aa87-dd90e0c39b96 3a4370da-15f0-4613-86b2-1cb033d7dd6e g.chr17:58143675T>A uc002iyk.1 - 8 1328 c.1311A>T c.(1309-1311)aaA>aaT p.K437N HEATR6_uc010ddk.1_5'UTR|HEATR6_uc010wos.1_Missense_Mutation_p.K269N NM_022070 NP_071353 Q6AI08 HEAT6_HUMAN Homo sapiens HEAT repeat containing 6 (HEATR6), mRNA. 437 binding NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 44 all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922) BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10) CATAAAGAACTTTTTTTTCTA 0.383000 16 40 0 0 1 0 0 ARHGEF6 9459 broad.mit.edu 37 X 135767911 135767911 + Missense_Mutation SNP C C A TCGA-EL-A3GO-01A-11D-A202-08 TCGA-EL-A3GO-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx bab12837-68d0-46ce-aa87-dd90e0c39b96 3a4370da-15f0-4613-86b2-1cb033d7dd6e g.chrX:135767911C>A uc004fab.3 - 11 1779 c.1317G>T c.(1315-1317)tgG>tgT p.W439C ARHGEF6_uc011mwd.2_Missense_Mutation_p.W312C|ARHGEF6_uc011mwe.2_Missense_Mutation_p.W285C NM_004840 NP_004831 Q15052 ARHG6_HUMAN Homo sapiens Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6 (ARHGEF6), mRNA. 439 JNK cascade|apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|Rho guanyl-nucleotide exchange factor activity cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1) 38 Acute lymphoblastic leukemia(192;0.000127) CTTCTCCTTCCCATGCCTGAA 0.393000 13 121 0 0 1 0 0 DNAH1 25981 broad.mit.edu 37 3 52433173 52433173 + Missense_Mutation SNP C C A TCGA-EL-A3GO-01A-11D-A202-08 TCGA-EL-A3GO-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx bab12837-68d0-46ce-aa87-dd90e0c39b96 3a4370da-15f0-4613-86b2-1cb033d7dd6e g.chr3:52433173C>A uc011bef.2 + 75 12658 c.12397C>A c.(12397-12399)Cgc>Agc p.R4133S DNAH1_uc003ddv.3_Missense_Mutation_p.R991S NM_015512 NP_056327 Q9P2D7 DYH1_HUMAN Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA. 4198 ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.R4197S(1)|p.R4133S(1) cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1) 62 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) GAATTTTGCCCGCAAATTTGT 0.537000 5 444 0 0 1 0 0 CCDC24 149473 broad.mit.edu 37 1 44457888 44457888 + Missense_Mutation SNP C C T TCGA-EL-A3GO-01A-11D-A202-08 TCGA-EL-A3GO-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx bab12837-68d0-46ce-aa87-dd90e0c39b96 3a4370da-15f0-4613-86b2-1cb033d7dd6e g.chr1:44457888C>T uc001clj.3 + 2 302 c.131C>T c.(130-132)gCg>gTg p.A44V SLC6A9_uc009vxe.2_Intron|SLC6A9_uc010okm.1_Intron|CCDC24_uc009vxc.3_Intron NM_152499 NP_689712 Q8N4L8 CCD24_HUMAN Homo sapiens coiled-coil domain containing 24 (CCDC24), mRNA. 44 endometrium(3)|large_intestine(2)|lung(3)|stomach(1) 9 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0821) TTGCAGGTGGCGATGTTACGG 0.642000 12 120 0 0 1 0 0 SHQ1 55164 broad.mit.edu 37 3 72897455 72897455 + Missense_Mutation SNP C C G TCGA-EL-A3GO-01A-11D-A202-08 TCGA-EL-A3GO-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx bab12837-68d0-46ce-aa87-dd90e0c39b96 3a4370da-15f0-4613-86b2-1cb033d7dd6e g.chr3:72897455C>G uc003dpf.3 - 0 144 c.37G>C c.(37-39)Gac>Cac p.D13H SHQ1_uc010hod.3_5'UTR NM_018130 NP_060600 Q6PI26 SHQ1_HUMAN Homo sapiens SHQ1 homolog (S. cerevisiae) (SHQ1), mRNA. 13 CS. ribonucleoprotein complex assembly cytosol|nucleoplasm protein binding p.P12S(1) NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 27 Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204) BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213) GTCAGGAAGTCCGGATCCTGG 0.657000 3 120 0 0 1 0 0 OR51F1 256892 broad.mit.edu 37 11 4790251 4790251 + Missense_Mutation SNP T T A TCGA-EL-A3GO-01A-11D-A202-08 TCGA-EL-A3GO-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx bab12837-68d0-46ce-aa87-dd90e0c39b96 3a4370da-15f0-4613-86b2-1cb033d7dd6e g.chr11:4790251T>A uc010qyl.2 - 0 897 c.897A>T c.(895-897)aaA>aaT p.K299N NM_001004752 NP_001004752 A6NLW9 A6NLW9_HUMAN Homo sapiens olfactory receptor, family 51, subfamily F, member 1 (OR51F1), mRNA. 299 integral to membrane olfactory receptor activity kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 22 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778) Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192) TGCGGATTTGTTTTGTTTTTA 0.438000 37 50 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140481431 140481431 + Silent SNP C C G TCGA-EL-A3GO-01A-11D-A202-08 TCGA-EL-A3GO-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx bab12837-68d0-46ce-aa87-dd90e0c39b96 3a4370da-15f0-4613-86b2-1cb033d7dd6e g.chr7:140481431C>G uc003vwc.4 - 10 1438 c.1377G>C c.(1375-1377)gtG>gtC p.V459V NM_004333 NP_004324 P15056 BRAF_HUMAN Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA. 459 Protein kinase. 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.V459L(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) TTCTTTGTCCCACTGTAATCT 0.403000 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 3 122 0 0 1 0 0 SBF2 81846 broad.mit.edu 37 11 9812167 9812167 + Missense_Mutation SNP A A C TCGA-EL-A3GO-01A-11D-A202-08 TCGA-EL-A3GO-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx bab12837-68d0-46ce-aa87-dd90e0c39b96 3a4370da-15f0-4613-86b2-1cb033d7dd6e g.chr11:9812167A>C uc001mib.2 - 33 4772 c.4634T>G c.(4633-4635)aTt>aGt p.I1545S LOC283104_uc001mhz.1_Intron|SBF2_uc001mid.2_Missense_Mutation_p.I189S|SBF2_uc001mic.2_5'Flank|BC073899_uc001mie.3_Intron NM_030962 NP_112224 Q86WG5 MTMRD_HUMAN Homo sapiens SET binding factor 2 (SBF2), mRNA. 1545 Myotubularin phosphatase. myelination cytoplasm|membrane phosphatase activity|protein binding breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887) CATTCTGTCAATACATTCCCA 0.294000 3 155 0 0 1 0 0 DICER1 23405 broad.mit.edu 37 14 95557639 95557639 + Missense_Mutation SNP C C G TCGA-EL-A3GO-01A-11D-A202-08 TCGA-EL-A3GO-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx bab12837-68d0-46ce-aa87-dd90e0c39b96 3a4370da-15f0-4613-86b2-1cb033d7dd6e g.chr14:95557639C>G uc001ydw.2 - 25 5640 c.5428G>C c.(5428-5430)Gat>Cat p.D1810H DICER1_uc010avh.1_Missense_Mutation_p.D708H|DICER1_uc021sbc.1_Intron|DICER1_uc001ydv.2_Missense_Mutation_p.D1800H|DICER1_uc001ydx.2_Missense_Mutation_p.D1810H NM_030621 NP_803187 Q9UPY3 DICER_HUMAN Homo sapiens dicer 1, ribonuclease type III (DICER1), transcript variant 2, mRNA. 1810 RNase III 2. negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of Schwann cell differentiation|positive regulation of myelination|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference RNA-induced silencing complex|cytosol ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity p.D1810A(1) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3) 75 all_cancers(154;0.0621)|all_epithelial(191;0.223) Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215) TCAAAAATATCCCCCATGGCC 0.458000 """Mis F, N""" """sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma""" pleuropulmonary blastoma Familial Multinodular Goiter ;DICER 1 syndrome 92 167 0 0 1 0 0 STAC2 342667 broad.mit.edu 37 17 37371255 37371255 + Missense_Mutation SNP C C T TCGA-EL-A3GO-01A-11D-A202-08 TCGA-EL-A3GO-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx bab12837-68d0-46ce-aa87-dd90e0c39b96 3a4370da-15f0-4613-86b2-1cb033d7dd6e g.chr17:37371255C>T uc002hrs.3 - 5 1006 c.721G>A c.(721-723)Gag>Aag p.E241K STAC2_uc010cvt.3_Missense_Mutation_p.E99K NM_198993 NP_945344 Q6ZMT1 STAC2_HUMAN Homo sapiens SH3 and cysteine rich domain 2 (STAC2), mRNA. 241 intracellular signal transduction metal ion binding NS(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(2) 17 TCCCCATCCTCGGTCAGCTCA 0.632000 87 154 0 0 1 0 0 SLITRK3 22865 broad.mit.edu 37 3 164906194 164906194 + Missense_Mutation SNP G G A TCGA-EL-A3GO-01A-11D-A202-08 TCGA-EL-A3GO-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx bab12837-68d0-46ce-aa87-dd90e0c39b96 3a4370da-15f0-4613-86b2-1cb033d7dd6e g.chr3:164906194G>A uc003fej.4 - 1 2869 c.2425C>T c.(2425-2427)Cgg>Tgg p.R809W SLITRK3_uc003fek.3_Missense_Mutation_p.R809W|SLITRK3_uc021xgy.1_Missense_Mutation_p.R809W NM_014926 NP_055741 O94933 SLIK3_HUMAN Homo sapiens SLIT and NTRK-like family, member 3 (SLITRK3), mRNA. 809 integral to membrane NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5) 119 AGCAAGGTCCGGTAGTTACTA 0.557000 HNSCC(40;0.11) 4 117 0 0 1 0 0 TECPR1 25851 broad.mit.edu 37 7 97858474 97858474 + Frame_Shift_Del DEL A A - TCGA-EL-A3GO-01A-11D-A202-08 TCGA-EL-A3GO-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx bab12837-68d0-46ce-aa87-dd90e0c39b96 3a4370da-15f0-4613-86b2-1cb033d7dd6e g.chr7:97858474delA uc003upg.3 - 15 2492 c.2287delT c.(2287-2289)tggfs p.W763fs TECPR1_uc003uph.1_Frame_Shift_Del_p.W693fs NM_015395 NP_056210 Q7Z6L1 TCPR1_HUMAN Homo sapiens tectonin beta-propeller repeat containing 1 (TECPR1), mRNA. 763 integral to membrane protein binding central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 ATCTGCCGCCAAAACCTGGAA 0.642 2 4 --- --- --- --- DYNC2H1 79659 broad.mit.edu 37 11 103029464 103029464 + Frame_Shift_Del DEL G G - TCGA-EL-A3GO-01A-11D-A202-08 TCGA-EL-A3GO-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx bab12837-68d0-46ce-aa87-dd90e0c39b96 3a4370da-15f0-4613-86b2-1cb033d7dd6e g.chr11:103029464delG uc001phn.1 + 26 4330 c.4186delG c.(4186-4188)ggafs p.G1396fs DYNC2H1_uc009yxe.1_Intron|DYNC2H1_uc001pho.2_Frame_Shift_Del_p.G1396fs NM_001080463 NP_001073932 Q8NCM8 DYHC2_HUMAN Homo sapiens dynein, cytoplasmic 2, heavy chain 1 (DYNC2H1), transcript variant 2, mRNA. 1396 Stem (By similarity). Golgi organization|cell projection organization|microtubule-based movement|multicellular organismal development Golgi apparatus|cilium axoneme|dynein complex|microtubule|plasma membrane ATP binding|ATPase activity|microtubule motor activity NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 33 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) TACTCATGCTGGAATAAGAAA 0.269 2 4 --- --- --- ---