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 ITIH4 3700 broad.mit.edu 37 3 52857696 52857696 + Missense_Mutation SNP T T C TCGA-HC-A8D0-01A-11D-A364-08 TCGA-HC-A8D0-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d04bc84-6f8d-4ff3-8044-44e342859531 15291a8d-12a8-4092-914c-995dbb9b607b g.chr3:52857696T>C ENST00000266041.4 - 11 1511 c.1415A>G c.(1414-1416)aAt>aGt p.N472S ITIH4_ENST00000467462.1_5'UTR|ITIH4_ENST00000434759.3_Missense_Mutation_p.N384S|RP5-966M1.6_ENST00000468472.1_3'UTR|ITIH4_ENST00000485816.1_Missense_Mutation_p.N472S|ITIH4_ENST00000406595.1_Missense_Mutation_p.N472S|ITIH4_ENST00000346281.5_Missense_Mutation_p.N472S NM_002218.4 NP_002209.2 Q14624 ITIH4_HUMAN inter-alpha-trypsin inhibitor heavy chain family, member 4 472 acute-phase response|hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 30 BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496) CTCCACGGCATTGCTTGGGTA 0.582 11 73 --- --- --- --- PEX5L 51555 broad.mit.edu 37 3 179529651 179529651 + Missense_Mutation SNP C C A TCGA-HC-A8D0-01A-11D-A364-08 TCGA-HC-A8D0-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d04bc84-6f8d-4ff3-8044-44e342859531 15291a8d-12a8-4092-914c-995dbb9b607b g.chr3:179529651C>A ENST00000467460.1 - 11 1422 c.1092G>T c.(1090-1092)caG>caT p.Q364H PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000468741.1_Missense_Mutation_p.Q172H|PEX5L_ENST00000392649.3_Missense_Mutation_p.Q256H|PEX5L_ENST00000476138.1_Missense_Mutation_p.Q321H|PEX5L_ENST00000485199.1_Missense_Mutation_p.Q329H|PEX5L_ENST00000263962.8_Missense_Mutation_p.Q362H|PEX5L_ENST00000472994.1_Missense_Mutation_p.Q305H|PEX5L_ENST00000464614.1_Missense_Mutation_p.Q256H|PEX5L_ENST00000465751.1_Missense_Mutation_p.Q340H NM_001256751.1|NM_016559.2 NP_001243680.1|NP_057643.1 Q8IYB4 PEX5R_HUMAN peroxisomal biogenesis factor 5-like 364 protein import into peroxisome matrix|regulation of cAMP-mediated signaling cytosol|peroxisomal membrane peroxisome matrix targeting signal-1 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183) OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518) TCCCGAGGAACTGCCATGCCT 0.468 9 65 --- --- --- --- CRIPAK 285464 broad.mit.edu 37 4 1389214 1389214 + Silent SNP C C T rs71299249 TCGA-HC-A8D0-01A-11D-A364-08 TCGA-HC-A8D0-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d04bc84-6f8d-4ff3-8044-44e342859531 15291a8d-12a8-4092-914c-995dbb9b607b g.chr4:1389214C>T ENST00000324803.4 + 1 3875 c.915C>T c.(913-915)tgC>tgT p.C305C NM_175918.3 NP_787114.2 Q8N1N5 CRPAK_HUMAN cysteine-rich PAK1 inhibitor 305 ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus endoplasmic reticulum|nucleus|plasma membrane protein binding NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1) 35 OV - Ovarian serous cystadenocarcinoma(23;0.0106) CTCACACGTGCCGACGTGGAG 0.662 5 228 --- --- --- --- MTTP 4547 broad.mit.edu 37 4 100543849 100543849 + Silent SNP G G A TCGA-HC-A8D0-01A-11D-A364-08 TCGA-HC-A8D0-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d04bc84-6f8d-4ff3-8044-44e342859531 15291a8d-12a8-4092-914c-995dbb9b607b g.chr4:100543849G>A ENST00000457717.1 + 19 2785 c.2529G>A c.(2527-2529)aaG>aaA p.K843K RP11-766F14.1_ENST00000508578.1_RNA|MTTP_ENST00000265517.5_Silent_p.K843K|MTTP_ENST00000511045.1_Silent_p.K870K NM_000253.2 NP_000244.2 P55157 MTP_HUMAN microsomal triglyceride transfer protein 843 lipid metabolic process|lipoprotein metabolic process endoplasmic reticulum lumen lipid binding|lipid transporter activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1) 57 OV - Ovarian serous cystadenocarcinoma(123;6.04e-09) Hesperetin(DB01094) TTGAGAAAAAGTACGAAAGGC 0.418 13 46 --- --- --- --- PCDHA12 56137 broad.mit.edu 37 5 140257255 140257255 + Missense_Mutation SNP C C T TCGA-HC-A8D0-01A-11D-A364-08 TCGA-HC-A8D0-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d04bc84-6f8d-4ff3-8044-44e342859531 15291a8d-12a8-4092-914c-995dbb9b607b g.chr5:140257255C>T ENST00000398631.2 + 1 2198 c.2198C>T c.(2197-2199)gCg>gTg p.A733V PCDHA7_ENST00000525929.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA8_ENST00000531613.1_Intron NM_018903.2|NM_031864.2 NP_061726.1|NP_114070.1 NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGCCGGTGCGCGCCGGGCAAG 0.677 8 24 --- --- --- --- PCDHB12 56124 broad.mit.edu 37 5 140590067 140590067 + Missense_Mutation SNP C C T TCGA-HC-A8D0-01A-11D-A364-08 TCGA-HC-A8D0-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d04bc84-6f8d-4ff3-8044-44e342859531 15291a8d-12a8-4092-914c-995dbb9b607b g.chr5:140590067C>T ENST00000239450.2 + 1 1777 c.1588C>T c.(1588-1590)Cgc>Tgc p.R530C PCDHB12_ENST00000541609.1_Missense_Mutation_p.R193C NM_018932.3 NP_061755.1 Q9Y5F1 PCDBC_HUMAN 530 Cadherin 5. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GTTCCAGTTCCGCGTGGGCGC 0.677 22 59 --- --- --- --- CACNA2D1 781 broad.mit.edu 37 7 81667507 81667507 + Silent SNP G G A TCGA-HC-A8D0-01A-11D-A364-08 TCGA-HC-A8D0-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d04bc84-6f8d-4ff3-8044-44e342859531 15291a8d-12a8-4092-914c-995dbb9b607b g.chr7:81667507G>A ENST00000356860.3 - 11 1262 c.924C>T c.(922-924)gtC>gtT p.V308V CACNA2D1_ENST00000356253.5_Silent_p.V308V NM_000722.2 NP_000713.2 P54289 CA2D1_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 1 308 VWFA. voltage-gated calcium channel complex metal ion binding breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115) CATTTGCTTGGACAAGGTGCT 0.313 4 86 --- --- --- --- MUC17 140453 broad.mit.edu 37 7 100680623 100680623 + Missense_Mutation SNP C C T TCGA-HC-A8D0-01A-11D-A364-08 TCGA-HC-A8D0-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d04bc84-6f8d-4ff3-8044-44e342859531 15291a8d-12a8-4092-914c-995dbb9b607b g.chr7:100680623C>T ENST00000306151.4 + 3 5990 c.5926C>T c.(5926-5928)Cca>Tca p.P1976S NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 1976 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) TACCAGCATGCCAACCCCAGC 0.498 6 362 --- --- --- --- PPP1R3A 5506 broad.mit.edu 37 7 113519011 113519011 + Silent SNP T T C TCGA-HC-A8D0-01A-11D-A364-08 TCGA-HC-A8D0-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d04bc84-6f8d-4ff3-8044-44e342859531 15291a8d-12a8-4092-914c-995dbb9b607b g.chr7:113519011T>C ENST00000284601.3 - 4 2204 c.2136A>G c.(2134-2136)gaA>gaG p.E712E NM_002711.3 NP_002702.2 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory subunit 3A 712 glycogen metabolic process integral to membrane NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2) 121 GAGAAGACAGTTCACAGCACA 0.403 24 156 --- --- --- --- ADCK2 90956 broad.mit.edu 37 7 140373323 140373323 + Silent SNP C C T TCGA-HC-A8D0-01A-11D-A364-08 TCGA-HC-A8D0-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d04bc84-6f8d-4ff3-8044-44e342859531 15291a8d-12a8-4092-914c-995dbb9b607b g.chr7:140373323C>T ENST00000072869.4 + 1 371 c.193C>T c.(193-195)Ctg>Ttg p.L65L ADCK2_ENST00000476491.1_Silent_p.L65L NM_052853.3 NP_443085.2 Q7Z695 ADCK2_HUMAN aarF domain containing kinase 2 65 integral to membrane ATP binding|protein serine/threonine kinase activity cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4) 15 Melanoma(164;0.00956) CCCTGACGTTCTGAGTCGGCG 0.726 4 16 --- --- --- --- CNTNAP2 26047 broad.mit.edu 37 7 146829413 146829413 + Missense_Mutation SNP C C T TCGA-HC-A8D0-01A-11D-A364-08 TCGA-HC-A8D0-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d04bc84-6f8d-4ff3-8044-44e342859531 15291a8d-12a8-4092-914c-995dbb9b607b g.chr7:146829413C>T ENST00000361727.3 + 8 1676 c.1160C>T c.(1159-1161)cCc>cTc p.P387L NM_014141.5 NP_054860.1 Q9UHC6 CNTP2_HUMAN contactin associated protein-like 2 387 behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) CTGGAGGTGCCCGGACGGCTT 0.478 HNSCC(39;0.1) 27 82 --- --- --- --- OR51L1 119682 broad.mit.edu 37 11 5020428 5020428 + Missense_Mutation SNP C C A TCGA-HC-A8D0-01A-11D-A364-08 TCGA-HC-A8D0-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d04bc84-6f8d-4ff3-8044-44e342859531 15291a8d-12a8-4092-914c-995dbb9b607b g.chr11:5020428C>A ENST00000321543.1 + 1 216 c.216C>A c.(214-216)gaC>gaA p.D72E NM_001004755.1 NP_001004755.1 Q8NGJ5 O51L1_HUMAN olfactory receptor, family 51, subfamily L, member 1 72 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1) 31 Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086) Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) CAGTGAATGACCTGGGGATGT 0.453 4 148 --- --- --- --- MPHOSPH9 10198 broad.mit.edu 37 12 123661278 123661278 + Missense_Mutation SNP G G A TCGA-HC-A8D0-01A-11D-A364-08 TCGA-HC-A8D0-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d04bc84-6f8d-4ff3-8044-44e342859531 15291a8d-12a8-4092-914c-995dbb9b607b g.chr12:123661278G>A ENST00000606320.1 - 16 2619 c.2413C>T c.(2413-2415)Ctt>Ttt p.L805F MPHOSPH9_ENST00000302349.5_Missense_Mutation_p.L653F|MPHOSPH9_ENST00000392425.3_Missense_Mutation_p.L653F|MPHOSPH9_ENST00000541076.2_Missense_Mutation_p.L775F Q99550 MPP9_HUMAN M-phase phosphoprotein 9 653 M phase of mitotic cell cycle centriole|Golgi membrane NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1) 33 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169) TTATGACGAAGGCTTAACATA 0.323 8 66 --- --- --- --- FBN3 84467 broad.mit.edu 37 19 8137034 8137034 + Silent SNP C C T rs144060152 byFrequency TCGA-HC-A8D0-01A-11D-A364-08 TCGA-HC-A8D0-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d04bc84-6f8d-4ff3-8044-44e342859531 15291a8d-12a8-4092-914c-995dbb9b607b g.chr19:8137034C>T ENST00000600128.1 - 63 8400 c.7986G>A c.(7984-7986)ccG>ccA p.P2662P FBN3_ENST00000270509.2_Silent_p.P2662P|FBN3_ENST00000601739.1_Silent_p.P2662P Q75N90 FBN3_HUMAN fibrillin 3 2662 proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 132 CCTCTTTGTCCGGGGTGTCCT 0.667 10 116 --- --- --- --- TMPRSS2 7113 broad.mit.edu 37 21 42866285 42866285 + Nonsense_Mutation SNP G G C TCGA-HC-A8D0-01A-11D-A364-08 TCGA-HC-A8D0-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d04bc84-6f8d-4ff3-8044-44e342859531 15291a8d-12a8-4092-914c-995dbb9b607b g.chr21:42866285G>C ENST00000398585.3 - 3 407 c.347C>G c.(346-348)tCa>tGa p.S116* TMPRSS2_ENST00000497881.1_Intron|TMPRSS2_ENST00000458356.1_Nonsense_Mutation_p.S79*|TMPRSS2_ENST00000332149.5_Nonsense_Mutation_p.S79* NM_001135099.1 NP_001128571.1 O15393 TMPS2_HUMAN transmembrane protease, serine 2 79 LDL-receptor class A. proteolysis cytoplasm|extracellular region|integral to plasma membrane scavenger receptor activity|serine-type endopeptidase activity TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13) central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 4 Prostate(19;4.48e-07)|all_epithelial(19;0.031) AATCCTACTTGAGGTGCACAC 0.617 T """ERG, ETV1, ETV4, ETV5""" prostate 3 18 --- --- --- --- AKAP17A 8227 broad.mit.edu 37 X 1712837 1712837 + Missense_Mutation SNP T T A TCGA-HC-A8D0-01A-11D-A364-08 TCGA-HC-A8D0-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d04bc84-6f8d-4ff3-8044-44e342859531 15291a8d-12a8-4092-914c-995dbb9b607b g.chrX:1712837T>A ENST00000313871.3 + 2 678 c.482T>A c.(481-483)cTg>cAg p.L161Q AKAP17A_ENST00000381261.3_Missense_Mutation_p.L161Q NM_005088.2 NP_005079.2 Q02040 AK17A_HUMAN A kinase (PRKA) anchor protein 17A 161 RRM. B cell activation|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|signal transduction nuclear speck|spliceosomal complex nucleotide binding|protein binding|RNA binding breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3) 26 TGGTTCGCCCTGAAGGAGTCG 0.642 23 117 --- --- --- ---