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 DNM1P47 0 broad.mit.edu 37 15 102293008 102293008 + RNA SNP A A G TCGA-EM-A2P0-01A-11D-A202-08 TCGA-EM-A2P0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c54088d-e00c-470f-af79-71c1dae9b4d6 1de7e8e6-34d9-405f-91f0-94ca4b582450 g.chr15:102293008A>G ENST00000561463.1 + 0 1054 p.K171E(1) GCGTGGGAACAAGAAGACACT 0.582000 2 10 0 0 0.004672 0 0 CROCCP2 0 broad.mit.edu 37 1 16946434 16946434 + RNA SNP C C T rs367060 TCGA-EM-A2P0-01A-11D-A202-08 TCGA-EM-A2P0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c54088d-e00c-470f-af79-71c1dae9b4d6 1de7e8e6-34d9-405f-91f0-94ca4b582450 g.chr1:16946434C>T ENST00000412962.1 - 0 1085 CTCAGCCTTCCGCCGGGCCAG 0.672000 9 30 0 0 0.010729 0 0 NETO2 81831 broad.mit.edu 37 16 47117466 47117466 + Missense_Mutation SNP A A C TCGA-EM-A2P0-01A-11D-A202-08 TCGA-EM-A2P0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c54088d-e00c-470f-af79-71c1dae9b4d6 1de7e8e6-34d9-405f-91f0-94ca4b582450 g.chr16:47117466A>C ENST00000562435.1 - 9 1628 c.1244T>G c.(1243-1245)tTg>tGg p.L415W NETO2_ENST00000303155.5_Missense_Mutation_p.L408W NM_018092.4 NP_060562.3 Q8NC67 NETO2_HUMAN neuropilin (NRP) and tolloid (TLL)-like 2 415 integral to membrane receptor activity breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 29 all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174) TTCTTCCGACAAGTCTGCCAG 0.517000 HNSCC(25;0.065) 3 145 0 0 0.009096 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-EM-A2P0-01A-11D-A202-08 TCGA-EM-A2P0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c54088d-e00c-470f-af79-71c1dae9b4d6 1de7e8e6-34d9-405f-91f0-94ca4b582450 g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 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(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(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 22 42 0 0 0.014323 0 0 ZFHX3 463 broad.mit.edu 37 16 72829160 72829160 + Missense_Mutation SNP A A C TCGA-EM-A2P0-01A-11D-A202-08 TCGA-EM-A2P0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c54088d-e00c-470f-af79-71c1dae9b4d6 1de7e8e6-34d9-405f-91f0-94ca4b582450 g.chr16:72829160A>C ENST00000268489.5 - 9 8093 c.7421T>G c.(7420-7422)cTg>cGg p.L2474R ZFHX3_ENST00000397992.5_Missense_Mutation_p.L1560R NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 2474 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) CAGGGACACCAGCTGGGGGAG 0.617000 4 84 0 0 0.014758 0 0 MUC17 140453 broad.mit.edu 37 7 100675605 100675605 + Missense_Mutation SNP A A G TCGA-EM-A2P0-01A-11D-A202-08 TCGA-EM-A2P0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c54088d-e00c-470f-af79-71c1dae9b4d6 1de7e8e6-34d9-405f-91f0-94ca4b582450 g.chr7:100675605A>G ENST00000306151.4 + 3 972 c.908A>G c.(907-909)aAc>aGc p.N303S NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 303 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) GCTGCCACCAACATTCCTGTG 0.493000 11 355 0 0 0.013537 0 0 ALDH1L1 10840 broad.mit.edu 37 3 125824683 125824683 + Missense_Mutation SNP G G T TCGA-EM-A2P0-01A-11D-A202-08 TCGA-EM-A2P0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c54088d-e00c-470f-af79-71c1dae9b4d6 1de7e8e6-34d9-405f-91f0-94ca4b582450 g.chr3:125824683G>T ENST00000393434.2 - 22 2888 c.2539C>A c.(2539-2541)Ctg>Atg p.L847M ALDH1L1_ENST00000472186.1_Missense_Mutation_p.L847M|ALDH1L1_ENST00000452905.2_Missense_Mutation_p.L746M|ALDH1L1_ENST00000393431.2_3'UTR|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.L857M|ALDH1L1-AS1_ENST00000512384.1_RNA NM_012190.3 NP_036322.2 O75891 AL1L1_HUMAN aldehyde dehydrogenase 1 family, member L1 847 Aldehyde dehydrogenase. 10-formyltetrahydrofolate catabolic process|biosynthetic process acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 52 GBM - Glioblastoma multiforme(114;0.0462) Tetrahydrofolic acid(DB00116) CTGACATACAGGGCCTTGTTG 0.552000 5 181 0.00116845 0.00501744 0.001168 1 0 DNM1P47 0 broad.mit.edu 37 15 102292785 102292785 + RNA SNP C C G rs61084368 TCGA-EM-A2P0-01A-11D-A202-08 TCGA-EM-A2P0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c54088d-e00c-470f-af79-71c1dae9b4d6 1de7e8e6-34d9-405f-91f0-94ca4b582450 g.chr15:102292785C>G ENST00000561463.1 + 0 831 p.Q125E(1) TGCTGCTTCTCAGAGCTGCTG 0.602000 4 32 0 0 0.003080 0 0 DNAH8 1769 broad.mit.edu 37 6 38980292 38980292 + Nonsense_Mutation SNP G G A TCGA-EM-A2P0-01A-11D-A202-08 TCGA-EM-A2P0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c54088d-e00c-470f-af79-71c1dae9b4d6 1de7e8e6-34d9-405f-91f0-94ca4b582450 g.chr6:38980292G>A ENST00000359357.3 + 89 13196 c.12942G>A c.(12940-12942)tgG>tgA p.W4314* DNAH8_ENST00000441566.1_Nonsense_Mutation_p.W4278* dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 GAGTGTCTTGGGATTCGTCCA 0.413000 4 159 0 0 0.009096 0 0 SYNE1 23345 broad.mit.edu 37 6 152737750 152737750 + Missense_Mutation SNP C C A TCGA-EM-A2P0-01A-11D-A202-08 TCGA-EM-A2P0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c54088d-e00c-470f-af79-71c1dae9b4d6 1de7e8e6-34d9-405f-91f0-94ca4b582450 g.chr6:152737750C>A ENST00000367255.5 - 41 6423 c.5822G>T c.(5821-5823)aGc>aTc p.S1941I SYNE1_ENST00000265368.4_Missense_Mutation_p.S1941I|SYNE1_ENST00000341594.5_Missense_Mutation_p.S1978I|SYNE1_ENST00000448038.1_Missense_Mutation_p.S1948I|SYNE1_ENST00000423061.1_Missense_Mutation_p.S1948I NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 1941 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TTGCTCAGAGCTCCCGATTTT 0.498000 HNSCC(10;0.0054) 4 112 2.56e-06 1.24587e-05 0.009096 1 0 AC023347.1 0 broad.mit.edu 37 2 127069021 127069022 + RNA INS - - T rs140927368 by1000genomes TCGA-EM-A2P0-01A-11D-A202-08 TCGA-EM-A2P0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c54088d-e00c-470f-af79-71c1dae9b4d6 1de7e8e6-34d9-405f-91f0-94ca4b582450 g.chr2:127069021_127069022insT ENST00000435352.1 + 0 136 TAGGAATTTCCTGGTCAAGTCT 0.386 3 3 --- --- --- --- DLX6 1750 broad.mit.edu 37 7 96635421 96635429 + In_Frame_Del DEL GCCGCCGCC GCCGCCGCC - TCGA-EM-A2P0-01A-11D-A202-08 TCGA-EM-A2P0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c54088d-e00c-470f-af79-71c1dae9b4d6 1de7e8e6-34d9-405f-91f0-94ca4b582450 g.chr7:96635421_96635429delGCCGCCGCC ENST00000518156.2 + 1 562_570 c.132_140delGCCGCCGCC c.(130-141)cag>ca p.QPPP44del DLX6-AS1_ENST00000605417.1_RNA|DLX6_ENST00000007660.5_Intron|DLX6-AS1_ENST00000452769.2_RNA|DLX6-AS1_ENST00000430404.2_RNA|DLX6-AS1_ENST00000437541.1_RNA|DLX6-AS1_ENST00000437331.2_RNA|DLX6-AS1_ENST00000458352.2_RNA|DLX6-AS1_ENST00000430027.2_RNA P56179 DLX6_HUMAN distal-less homeobox 6 0 nervous system development|skeletal system development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1) 12 all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858) aacagcaacagccgccgccgccgccgccg 0.713 3 6 --- --- --- --- ABCC4 10257 broad.mit.edu 37 13 95727771 95727773 + In_Frame_Del DEL AGA AGA - TCGA-EM-A2P0-01A-11D-A202-08 TCGA-EM-A2P0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c54088d-e00c-470f-af79-71c1dae9b4d6 1de7e8e6-34d9-405f-91f0-94ca4b582450 g.chr13:95727771_95727773delAGA ENST00000376887.4 - 22 2833_2835 c.2719_2721delTCT c.(2719-2721)del p.S907del ABCC4_ENST00000412704.1_In_Frame_Del_p.S860del NM_005845.3 NP_005836.2 O15439 MRP4_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 4 907 ABC transmembrane type-1 2. platelet activation|platelet degranulation integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane 15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 43 all_neural(89;0.0878)|Medulloblastoma(90;0.163) Cefazolin(DB01327) GCCCCTGGAGAGAAGATGATAAG 0.512 37 117 --- --- --- --- NCOR1P1 0 broad.mit.edu 37 20 26084428 26084428 + RNA DEL C C - TCGA-EM-A2P0-01A-11D-A202-08 TCGA-EM-A2P0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c54088d-e00c-470f-af79-71c1dae9b4d6 1de7e8e6-34d9-405f-91f0-94ca4b582450 g.chr20:26084428delC ENST00000478176.1 - 0 150 NR_003678.1 TCTAATGAAACCTTTAGTAGT 0.313 5 10 --- --- --- ---