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 SIRPB1 10326 broad.mit.edu 37 20 1592193 1592193 + Silent SNP C C T TCGA-TT-A6YN-01A-12D-A35I-08 TCGA-TT-A6YN-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx d224cf56-a405-4a62-8d91-2f05ddd11e7e c83f5b88-bf6d-41a2-8b57-ad688bd5cc97 g.chr20:1592193C>T ENST00000279477.7 - 2 307 c.243G>A c.(241-243)caG>caA p.Q81Q SIRPB1_ENST00000568365.1_Silent_p.Q81Q|RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000381605.4_Intron|SIRPB1_ENST00000381596.1_5'UTR|SIRPB1_ENST00000381603.3_Intron NM_001135844.2 NP_001129316.1 O00241 SIRB1_HUMAN signal-regulatory protein beta 1 81 Ig-like V-type. cell junction assembly|cell surface receptor linked signaling pathway integral to plasma membrane protein binding central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 31 GGCCTTCTTTCTGATTGTAGA 0.522000 4 76 0 0 1 0 0 NBPF1 55672 broad.mit.edu 37 1 16918653 16918653 + Splice_Site SNP C C T TCGA-TT-A6YN-01A-12D-A35I-08 TCGA-TT-A6YN-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx d224cf56-a405-4a62-8d91-2f05ddd11e7e c83f5b88-bf6d-41a2-8b57-ad688bd5cc97 g.chr1:16918653C>T ENST00000430580.2 - 6 853 c.e6+1 NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TCTTAACTTACTGTTGTGAAA 0.418000 5 20 0 0 1 0 0 CHD6 84181 broad.mit.edu 37 20 40076589 40076589 + Silent SNP G G A TCGA-TT-A6YN-01A-12D-A35I-08 TCGA-TT-A6YN-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx d224cf56-a405-4a62-8d91-2f05ddd11e7e c83f5b88-bf6d-41a2-8b57-ad688bd5cc97 g.chr20:40076589G>A ENST00000373233.3 - 24 3883 c.3706C>T c.(3706-3708)Ctg>Ttg p.L1236L CHD6_ENST00000309279.7_Silent_p.L719L NM_032221.3 NP_115597.3 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 1236 chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9) 129 Myeloproliferative disorder(115;0.00425) AGGTAGTACAGCATCCGGACT 0.403000 4 143 0 0 1 0 0 FBXO10 26267 broad.mit.edu 37 9 37518298 37518298 + Missense_Mutation SNP G G A TCGA-TT-A6YN-01A-12D-A35I-08 TCGA-TT-A6YN-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx d224cf56-a405-4a62-8d91-2f05ddd11e7e c83f5b88-bf6d-41a2-8b57-ad688bd5cc97 g.chr9:37518298G>A ENST00000432825.2 - 9 2386 c.2338C>T c.(2338-2340)Cgg>Tgg p.R780W RP11-613M10.8_ENST00000544475.1_5'UTR|FBXO10_ENST00000541829.1_Missense_Mutation_p.R305W NM_012166.2 NP_036298.2 Q9UK96 FBX10_HUMAN F-box protein 10 780 ubiquitin ligase complex ubiquitin-protein ligase activity breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1) 34 GBM - Glioblastoma multiforme(29;0.0107) CCACTTTGCCGGTTGCAGGAG 0.572000 3 62 0 0 1 0 0 SDK1 221935 broad.mit.edu 37 7 4009006 4009006 + Missense_Mutation SNP C C T TCGA-TT-A6YN-01A-12D-A35I-08 TCGA-TT-A6YN-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx d224cf56-a405-4a62-8d91-2f05ddd11e7e c83f5b88-bf6d-41a2-8b57-ad688bd5cc97 g.chr7:4009006C>T ENST00000404826.2 + 11 1803 c.1664C>T c.(1663-1665)gCg>gTg p.A555V SDK1_ENST00000389531.3_Missense_Mutation_p.A555V NM_152744.3 NP_689957.3 Q7Z5N4 SDK1_HUMAN sidekick cell adhesion molecule 1 555 Ig-like C2-type 5. cell adhesion integral to membrane NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4) 153 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) ACCTGCTATGCGGCCAACACA 0.577000 4 167 0 0 1 0 0 UBE3C 9690 broad.mit.edu 37 7 157060410 157060410 + Silent SNP C C G TCGA-TT-A6YN-01A-12D-A35I-08 TCGA-TT-A6YN-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx d224cf56-a405-4a62-8d91-2f05ddd11e7e c83f5b88-bf6d-41a2-8b57-ad688bd5cc97 g.chr7:157060410C>G ENST00000348165.5 + 23 3573 c.3213C>G c.(3211-3213)ctC>ctG p.L1071L NM_014671.2 NP_055486.2 Q15386 UBE3C_HUMAN ubiquitin protein ligase E3C 1071 HECT. protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus|proteasome complex protein binding|ubiquitin-protein ligase activity central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1) 63 all_hematologic(28;0.0185)|all_epithelial(9;0.0664) OV - Ovarian serous cystadenocarcinoma(82;0.00448) UCEC - Uterine corpus endometrioid carcinoma (81;0.19) GTAAACTTCTCTATGCGATTG 0.567000 30 35 0 0 1 0 0 TUBE1 51175 broad.mit.edu 37 6 112397154 112397154 + Silent SNP G G A TCGA-TT-A6YN-01A-12D-A35I-08 TCGA-TT-A6YN-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx d224cf56-a405-4a62-8d91-2f05ddd11e7e c83f5b88-bf6d-41a2-8b57-ad688bd5cc97 g.chr6:112397154G>A ENST00000368662.5 - 8 876 c.798C>T c.(796-798)ctC>ctT p.L266L TUBE1_ENST00000604814.1_5'UTR NM_016262.4 NP_057346.1 Q9UJT0 TBE_HUMAN tubulin, epsilon 1 266 centrosome cycle|microtubule-based movement|protein polymerization microtubule|pericentriolar material GTP binding|GTPase activity|structural constituent of cytoskeleton cervix(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 12 all_cancers(87;0.0101)|all_hematologic(75;0.000258)|Colorectal(196;0.0466)|all_epithelial(87;0.1) all cancers(137;0.0217)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0636)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246) TTAGGTTGAGGAGCAAATTTG 0.353000 51 78 0 0 1 0 0 ITIH1 3697 broad.mit.edu 37 3 52819188 52819188 + Silent SNP C C T TCGA-TT-A6YN-01A-12D-A35I-08 TCGA-TT-A6YN-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx d224cf56-a405-4a62-8d91-2f05ddd11e7e c83f5b88-bf6d-41a2-8b57-ad688bd5cc97 g.chr3:52819188C>T ENST00000273283.2 + 12 1560 c.1536C>T c.(1534-1536)gcC>gcT p.A512A ITIH1_ENST00000542827.1_Silent_p.A512A|ITIH1_ENST00000540715.1_Silent_p.A370A|ITIH1_ENST00000537050.1_Silent_p.A224A NM_002215.3 NP_002206.2 P19827 ITIH1_HUMAN inter-alpha-trypsin inhibitor heavy chain 1 512 Hyaluronan-binding. hyaluronan metabolic process|leukocyte activation extracellular region calcium ion binding|serine-type endopeptidase inhibitor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 52 BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498) TTGTGGTGGCCGGGCGCATTG 0.577000 4 84 0 0 1 0 0 TPR 7175 broad.mit.edu 37 1 186315295 186315295 + Missense_Mutation SNP C C T TCGA-TT-A6YN-01A-12D-A35I-08 TCGA-TT-A6YN-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx d224cf56-a405-4a62-8d91-2f05ddd11e7e c83f5b88-bf6d-41a2-8b57-ad688bd5cc97 g.chr1:186315295C>T ENST00000367478.3 - 23 3364 c.3068G>A c.(3067-3069)aGa>aAa p.R1023K NM_003292.2 NP_003283.2 P12270 TPR_HUMAN translocated promoter region, nuclear basket protein 1023 carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm ATP binding|protein binding|serine-tRNA ligase activity autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8) 123 Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157) Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553) TATGGCTCTTCTTTTATCATC 0.323000 T NTRK1 papillary thyroid 15 42 0 0 1 0 0 FRG1BP 284802 broad.mit.edu 37 20 29625877 29625877 + Missense_Mutation SNP G G A rs7266938 by1000genomes TCGA-TT-A6YN-01A-12D-A35I-08 TCGA-TT-A6YN-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx d224cf56-a405-4a62-8d91-2f05ddd11e7e c83f5b88-bf6d-41a2-8b57-ad688bd5cc97 g.chr20:29625877G>A ENST00000278882.3 + 5 501 c.121G>A c.(121-123)Gcc>Acc p.A41T FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T p.A41T(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GTACAGAATCGCCCTGAAATC 0.358000 6 95 0 0 1 0 0 PLG 5340 broad.mit.edu 37 6 161137789 161137789 + Missense_Mutation SNP C C T TCGA-TT-A6YN-01A-12D-A35I-08 TCGA-TT-A6YN-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx d224cf56-a405-4a62-8d91-2f05ddd11e7e c83f5b88-bf6d-41a2-8b57-ad688bd5cc97 g.chr6:161137789C>T ENST00000308192.9 + 7 844 c.781C>T c.(781-783)Cgc>Tgc p.R261C NM_000301.3 NP_000292.1 P00747 PLMN_HUMAN plasminogen 261 Kringle 2. R -> H (in dbSNP:rs4252187). extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen apolipoprotein binding|cell surface binding|serine-type endopeptidase activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1) 59 OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06) Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013) TGACATCCCCCGCTGCAGTGA 0.522000 3 42 0 0 1 0 0 LIPT1 51601 broad.mit.edu 37 2 99778810 99778810 + Silent SNP G G A TCGA-TT-A6YN-01A-12D-A35I-08 TCGA-TT-A6YN-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx d224cf56-a405-4a62-8d91-2f05ddd11e7e c83f5b88-bf6d-41a2-8b57-ad688bd5cc97 g.chr2:99778810G>A ENST00000393477.3 + 4 742 c.390G>A c.(388-390)ctG>ctA p.L130L LIPT1_ENST00000393474.3_Silent_p.L130L|MRPL30_ENST00000410042.1_Intron|LIPT1_ENST00000393473.2_Silent_p.L130L|LIPT1_ENST00000393471.2_Silent_p.L130L|LIPT1_ENST00000340066.1_Silent_p.L130L NM_145197.2 NP_660198.1 Q9Y234 LIPT_HUMAN lipoyltransferase 1 130 lipid metabolic process|protein lipoylation mitochondrion acyltransferase activity large_intestine(6)|lung(1) 7 Lipoic Acid(DB00166) TGGAAAATCTGAAATTAATTG 0.383000 5 70 0 0 1 0 0 PCSK7 9159 broad.mit.edu 37 11 117090363 117090363 + Missense_Mutation SNP G G A TCGA-TT-A6YN-01A-12D-A35I-08 TCGA-TT-A6YN-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx d224cf56-a405-4a62-8d91-2f05ddd11e7e c83f5b88-bf6d-41a2-8b57-ad688bd5cc97 g.chr11:117090363G>A ENST00000320934.3 - 10 1897 c.1267C>T c.(1267-1269)Cgg>Tgg p.R423W PCSK7_ENST00000540028.1_Missense_Mutation_p.R64W NM_004716.2 NP_004707.2 Q16549 PCSK7_HUMAN proprotein convertase subtilisin/kexin type 7 423 Catalytic. peptide hormone processing integral to Golgi membrane serine-type endopeptidase activity NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1) 16 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537) AGGCAGGGCCGCACCTGCAGC 0.627000 T IGH@ MLCLS 9 23 0 0 1 0 0 PPP1R12B 4660 broad.mit.edu 37 1 202407189 202407190 + Frame_Shift_Ins INS - - T TCGA-TT-A6YN-01A-12D-A35I-08 TCGA-TT-A6YN-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx d224cf56-a405-4a62-8d91-2f05ddd11e7e c83f5b88-bf6d-41a2-8b57-ad688bd5cc97 g.chr1:202407189_202407190insT ENST00000480184.1 + 10 1627_1628 c.1495_1496insT c.(1495-1497)tttfs p.F499fs PPP1R12B_ENST00000356764.2_3'UTR|PPP1R12B_ENST00000406302.3_Intron|PPP1R12B_ENST00000336894.4_Intron NM_001167857.1 NP_001161329.1 O60237 MYPT2_HUMAN protein phosphatase 1, regulatory subunit 12B 499 regulation of muscle contraction|signal transduction cytoplasm enzyme activator activity central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1) 41 BRCA - Breast invasive adenocarcinoma(75;0.166) TTCCAAGGCAGTTTTTTTTTTC 0.391 7 35 --- --- --- --- HSPD1P6 645548 broad.mit.edu 37 3 36810380 36810381 + RNA INS - - T TCGA-TT-A6YN-01A-12D-A35I-08 TCGA-TT-A6YN-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx d224cf56-a405-4a62-8d91-2f05ddd11e7e c83f5b88-bf6d-41a2-8b57-ad688bd5cc97 g.chr3:36810380_36810381insT ENST00000424886.1 - 0 405_406 TGAGTGAGGCCttttttttttt 0.540 6 6 --- --- --- --- TRDN 10345 broad.mit.edu 37 6 123786033 123786033 + Frame_Shift_Del DEL A A - TCGA-TT-A6YN-01A-12D-A35I-08 TCGA-TT-A6YN-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx d224cf56-a405-4a62-8d91-2f05ddd11e7e c83f5b88-bf6d-41a2-8b57-ad688bd5cc97 g.chr6:123786033delA ENST00000546248.1 - 9 1022 c.889delT c.(889-891)ctfs p.S297fs RP11-532N4.2_ENST00000589182.1_RNA|TRDN_ENST00000398178.3_Intron|RP11-532N4.2_ENST00000587106.1_RNA|RP11-532N4.2_ENST00000434768.1_RNA|RP11-532N4.2_ENST00000418467.2_RNA|RP11-532N4.2_ENST00000427828.1_RNA|TRDN_ENST00000334268.4_Intron NM_001256020.1 NP_001242949.1 Q13061 TRDN_HUMAN triadin 0 muscle contraction integral to membrane|plasma membrane|sarcoplasmic reticulum membrane receptor binding NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 41 GBM - Glioblastoma multiforme(226;0.184) GATCTTTAAGAAAAAAAAAAG 0.388 2 4 --- --- --- --- LA16c-23H5.4 0 broad.mit.edu 37 22 16419352 16419352 + RNA DEL T T - TCGA-TT-A6YN-01A-12D-A35I-08 TCGA-TT-A6YN-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx d224cf56-a405-4a62-8d91-2f05ddd11e7e c83f5b88-bf6d-41a2-8b57-ad688bd5cc97 g.chr22:16419352delT ENST00000444162.1 + 0 279 GAATCGACGATTTTTTTTTTG 0.398 2 4 --- --- --- ---