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 RP11-156P1.3 0 broad.mit.edu 37 17 45127107 45127107 + RNA SNP C C G rs147409399 by1000genomes TCGA-WB-A814-01A-11D-A35I-08 TCGA-WB-A814-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ee7bbf0-8fb1-474a-a8ce-357c0c9cc53e 34552440-20c8-4b1b-a73a-00916e34f67c g.chr17:45127107C>G ENST00000575173.1 - 0 418 CCTTCGTTCACCCAAGAGCAT 0.592000 3 71 0 0 1 0 0 TNS3 64759 broad.mit.edu 37 7 47344521 47344521 + Missense_Mutation SNP G G A TCGA-WB-A814-01A-11D-A35I-08 TCGA-WB-A814-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ee7bbf0-8fb1-474a-a8ce-357c0c9cc53e 34552440-20c8-4b1b-a73a-00916e34f67c g.chr7:47344521G>A ENST00000398879.1 - 21 3097 c.2731C>T c.(2731-2733)Cgg>Tgg p.R911W TNS3_ENST00000355730.3_Missense_Mutation_p.R671W|TNS3_ENST00000311160.9_Missense_Mutation_p.R911W Q68CZ2 TENS3_HUMAN tensin 3 911 focal adhesion protein binding NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 64 GCATCAGCCCGGAGCATCGTG 0.587000 3 29 0 0 1 0 0 RBM24 221662 broad.mit.edu 37 6 17283076 17283076 + Missense_Mutation SNP A A T TCGA-WB-A814-01A-11D-A35I-08 TCGA-WB-A814-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ee7bbf0-8fb1-474a-a8ce-357c0c9cc53e 34552440-20c8-4b1b-a73a-00916e34f67c g.chr6:17283076A>T ENST00000379052.5 + 2 445 c.209A>T c.(208-210)aAg>aTg p.K70M RBM24_ENST00000425446.2_Missense_Mutation_p.K12M|RBM24_ENST00000318204.5_Missense_Mutation_p.K25M NM_001143942.1 NP_001137414.1 Q9BX46 RBM24_HUMAN RNA binding motif protein 24 70 RRM. cell differentiation|regulation of mRNA stability|regulation of myotube differentiation cytoplasm|nucleus mRNA 3'-UTR binding|nucleotide binding endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1) 13 Breast(50;0.0615)|Ovarian(93;0.0733) all_hematologic(90;0.062) all cancers(50;0.131)|Epithelial(50;0.15) AGGGCCTGCAAGGATCCCAAT 0.483000 3 43 0 0 1 0 0 PKP4 8502 broad.mit.edu 37 2 159517885 159517885 + Missense_Mutation SNP C C T TCGA-WB-A814-01A-11D-A35I-08 TCGA-WB-A814-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ee7bbf0-8fb1-474a-a8ce-357c0c9cc53e 34552440-20c8-4b1b-a73a-00916e34f67c g.chr2:159517885C>T ENST00000389757.3 + 13 2259 c.2134C>T c.(2134-2136)Cgg>Tgg p.R712W AC005042.4_ENST00000342892.4_RNA|PKP4_ENST00000389759.3_Missense_Mutation_p.R712W NM_001005476.1 NP_001005476.1 Q99569 PKP4_HUMAN plakophilin 4 712 cell adhesion desmosome protein binding breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 61 GAAGCAAATGCGGTCCTGCGA 0.577000 HNSCC(62;0.18) 3 47 0 0 1 0 0 AHNAK 79026 broad.mit.edu 37 11 62288421 62288421 + Missense_Mutation SNP C C T TCGA-WB-A814-01A-11D-A35I-08 TCGA-WB-A814-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ee7bbf0-8fb1-474a-a8ce-357c0c9cc53e 34552440-20c8-4b1b-a73a-00916e34f67c g.chr11:62288421C>T ENST00000378024.4 - 5 13742 c.13468G>A c.(13468-13470)Ggg>Agg p.G4490R AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 4490 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) ACCTCTGGCCCTTTCAGATCA 0.453000 36 53 0 0 1 0 0 EPAS1 2034 broad.mit.edu 37 2 46607400 46607400 + Missense_Mutation SNP C C T TCGA-WB-A814-01A-11D-A35I-08 TCGA-WB-A814-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ee7bbf0-8fb1-474a-a8ce-357c0c9cc53e 34552440-20c8-4b1b-a73a-00916e34f67c g.chr2:46607400C>T ENST00000263734.3 + 12 2099 c.1589C>T c.(1588-1590)gCa>gTa p.A530V NM_001430.4 NP_001421.2 Q99814 EPAS1_HUMAN endothelial PAS domain protein 1 530 NTAD. angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia transcription factor complex histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18) LUSC - Lung squamous cell carcinoma(58;0.151) GAGACACTGGCACCCTATATC 0.592000 34 80 0 0 1 0 0 MRVI1 10335 broad.mit.edu 37 11 10602002 10602002 + Splice_Site SNP C C T TCGA-WB-A814-01A-11D-A35I-08 TCGA-WB-A814-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ee7bbf0-8fb1-474a-a8ce-357c0c9cc53e 34552440-20c8-4b1b-a73a-00916e34f67c g.chr11:10602002C>T ENST00000547195.1 - 19 2722 c.2222_splice c.e19+1 p.S741_splice MRVI1_ENST00000545852.1_Splice_Site_p.S517_splice|MRVI1-AS1_ENST00000529979.1_RNA|MRVI1_ENST00000558540.1_Splice_Site_p.S517_splice|MRVI1_ENST00000423302.2_Splice_Site_p.S832_splice|LYVE1_ENST00000531706.1_Intron|MRVI1_ENST00000552103.1_Splice_Site_p.S741_splice|MRVI1_ENST00000541483.1_Splice_Site_p.S626_splice|MRVI1_ENST00000531107.1_Splice_Site_p.S824_splice|MRVI1_ENST00000527509.2_Splice_Site_p.S741_splice|MRVI1_ENST00000436272.1_Splice_Site_p.S805_splice|MRVI1_ENST00000421747.1_Splice_Site_p.S823_splice|MRVI1_ENST00000534266.2_Splice_Site_p.S517_splice|MRVI1-AS1_ENST00000529829.1_RNA|MRVI1_ENST00000424001.1_Splice_Site_p.S517_splice NM_001100163.2|NM_001206881.1 NP_001093633.1|NP_001193810.1 Q9Y6F6 MRVI1_HUMAN murine retrovirus integration site 1 homolog 805 platelet activation endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2) 22 all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723) GGCTTCCCACCTGCTTCTTGG 0.488000 4 169 0 0 1 0 0 RNF168 165918 broad.mit.edu 37 3 196199525 196199525 + Missense_Mutation SNP A A G TCGA-WB-A814-01A-11D-A35I-08 TCGA-WB-A814-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ee7bbf0-8fb1-474a-a8ce-357c0c9cc53e 34552440-20c8-4b1b-a73a-00916e34f67c g.chr3:196199525A>G ENST00000318037.3 - 6 1475 c.881T>C c.(880-882)aTa>aCa p.I294T NM_152617.3 NP_689830.2 Q8IYW5 RN168_HUMAN ring finger protein 168, E3 ubiquitin protein ligase 294 double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation nucleus|ubiquitin ligase complex chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1) 20 all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00348) AGGGGACTCTATTGAAGAATC 0.458000 13 37 0 0 1 0 0 IGHV1OR16-3 28313 broad.mit.edu 37 16 32070612 32070612 + RNA SNP A A C TCGA-WB-A814-01A-11D-A35I-08 TCGA-WB-A814-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ee7bbf0-8fb1-474a-a8ce-357c0c9cc53e 34552440-20c8-4b1b-a73a-00916e34f67c g.chr16:32070612A>C ENST00000566806.1 - 0 499 GGTCTCCTGCAAGGCTTCTGG 0.552000 6 80 0 0 1 0 0 TGFBR3 7049 broad.mit.edu 37 1 92174280 92174280 + Nonsense_Mutation SNP G G A TCGA-WB-A814-01A-11D-A35I-08 TCGA-WB-A814-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ee7bbf0-8fb1-474a-a8ce-357c0c9cc53e 34552440-20c8-4b1b-a73a-00916e34f67c g.chr1:92174280G>A ENST00000212355.4 - 14 2692 c.2227C>T c.(2227-2229)Cag>Tag p.Q743* TGFBR3_ENST00000370399.2_Nonsense_Mutation_p.Q742*|TGFBR3_ENST00000525962.1_Nonsense_Mutation_p.Q743* NM_001195683.1|NM_003243.4 NP_001182612.1|NP_003234.2 Q03167 TGBR3_HUMAN transforming growth factor, beta receptor III 743 BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3) 55 all_lung(203;0.00719)|Lung NSC(277;0.0268) all cancers(265;0.0108)|Epithelial(280;0.0825) TTCTTATTCTGCATCATGGCC 0.547000 9 38 0 0 1 0 0 ALMS1 7840 broad.mit.edu 37 2 73717628 73717628 + Missense_Mutation SNP G G A TCGA-WB-A814-01A-11D-A35I-08 TCGA-WB-A814-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ee7bbf0-8fb1-474a-a8ce-357c0c9cc53e 34552440-20c8-4b1b-a73a-00916e34f67c g.chr2:73717628G>A ENST00000264448.6 + 10 8650 c.8539G>A c.(8539-8541)Ggc>Agc p.G2847S ALMS1_ENST00000409009.1_Missense_Mutation_p.G2805S NM_015120.4 NP_055935.4 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 2847 G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 147 TATTAGCATGGGCAGACCAAG 0.403000 13 31 0 0 1 0 0 HNRNPM 4670 broad.mit.edu 37 19 8550640 8550640 + Missense_Mutation SNP G G A TCGA-WB-A814-01A-11D-A35I-08 TCGA-WB-A814-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ee7bbf0-8fb1-474a-a8ce-357c0c9cc53e 34552440-20c8-4b1b-a73a-00916e34f67c g.chr19:8550640G>A ENST00000348943.3 + 15 1443 c.1211G>A c.(1210-1212)cGc>cAc p.R404H HNRNPM_ENST00000325495.4_Missense_Mutation_p.R443H NM_031203.3 NP_112480.2 P52272 HNRPM_HUMAN heterogeneous nuclear ribonucleoprotein M 443 27 X 6 AA repeats of [GEVSTPAN]-[ILMV]- [DE]-[RH]-[MLVI]-[GAV]. alternative nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles nucleotide binding|protein domain specific binding|RNA binding endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1) 25 GTCATGGACCGCATGGGCTCC 0.711000 5 154 0 0 1 0 0 EMC1 23065 broad.mit.edu 37 1 19559123 19559123 + Missense_Mutation SNP C C T TCGA-WB-A814-01A-11D-A35I-08 TCGA-WB-A814-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ee7bbf0-8fb1-474a-a8ce-357c0c9cc53e 34552440-20c8-4b1b-a73a-00916e34f67c g.chr1:19559123C>T ENST00000477853.1 - 15 1819 c.1777G>A c.(1777-1779)Gac>Aac p.D593N RP1-43E13.2_ENST00000437898.1_RNA|EMC1_ENST00000375199.3_Missense_Mutation_p.D592N|EMC1_ENST00000375208.3_Missense_Mutation_p.D571N NM_001271428.1|NM_015047.1 NP_001258357.1|NP_055862.1 ER membrane protein complex subunit 1 CTCACCTTGTCCTTCACCAGC 0.488000 30 71 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100682744 100682744 + Missense_Mutation SNP C C T rs71286275 TCGA-WB-A814-01A-11D-A35I-08 TCGA-WB-A814-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ee7bbf0-8fb1-474a-a8ce-357c0c9cc53e 34552440-20c8-4b1b-a73a-00916e34f67c g.chr7:100682744C>T ENST00000306151.4 + 3 8111 c.8047C>T c.(8047-8049)Cca>Tca p.P2683S NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 2683 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity p.P2683S(1) 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) TAGCAGCATGCCAACCTCAAC 0.493000 5 293 0 0 1 0 0 H3F3AP4 440926 broad.mit.edu 37 2 175585079 175585079 + RNA DEL A A - TCGA-WB-A814-01A-11D-A35I-08 TCGA-WB-A814-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ee7bbf0-8fb1-474a-a8ce-357c0c9cc53e 34552440-20c8-4b1b-a73a-00916e34f67c g.chr2:175585079delA ENST00000442996.1 + 0 217 TTTCATTCTCAAAAAAAAAAA 0.368 OREG0015078 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 6 --- --- --- --- CLIP3 25999 broad.mit.edu 37 19 36523167 36523167 + Frame_Shift_Del DEL G G - TCGA-WB-A814-01A-11D-A35I-08 TCGA-WB-A814-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ee7bbf0-8fb1-474a-a8ce-357c0c9cc53e 34552440-20c8-4b1b-a73a-00916e34f67c g.chr19:36523167delG ENST00000360535.4 - 2 320 c.93delC c.(91-93)ccfs p.P31fs AC002116.7_ENST00000586962.1_RNA|CLIP3_ENST00000593074.1_Frame_Shift_Del_p.P31fs NM_015526.2 NP_056341.1 Q96DZ5 CLIP3_HUMAN CAP-GLY domain containing linker protein 3 31 chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation early endosome membrane|Golgi stack|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane ganglioside binding|microtubule binding cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 23 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) GGGTGGGGCTGGGGGCCTCGG 0.662 2 4 --- --- --- --- RP13-329D4.3 0 broad.mit.edu 37 20 26113543 26113543 + RNA DEL A A - TCGA-WB-A814-01A-11D-A35I-08 TCGA-WB-A814-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ee7bbf0-8fb1-474a-a8ce-357c0c9cc53e 34552440-20c8-4b1b-a73a-00916e34f67c g.chr20:26113543delA ENST00000416563.1 - 0 250 TCTTTGCCTTAACAACATTAT 0.363 2 4 --- --- --- --- AMMECR1 9949 broad.mit.edu 37 X 109561058 109561060 + In_Frame_Del DEL CCG CCG - TCGA-WB-A814-01A-11D-A35I-08 TCGA-WB-A814-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ee7bbf0-8fb1-474a-a8ce-357c0c9cc53e 34552440-20c8-4b1b-a73a-00916e34f67c g.chrX:109561058_109561060delCCG ENST00000262844.5 - 1 407_409 c.240_242delCGG c.(238-243)ggg>gg p.GG80del AMMECR1_ENST00000372059.2_In_Frame_Del_p.GG80del|AMMECR1_ENST00000372057.1_5'UTR NM_015365.2 NP_056180.1 Q9Y4X0 AMER1_HUMAN Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1 80 Gly/Ser-rich. large_intestine(1)|lung(4)|ovary(1)|stomach(1) 7 GGCGATCCCCCCGCCGCCGCCGC 0.734 2 4 --- --- --- ---