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 ASH1L 55870 broad.mit.edu 37 1 155429593 155429593 + Nonsense_Mutation SNP G G C TCGA-EJ-A8FS-01A-11D-A34U-08 TCGA-EJ-A8FS-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d86eaa-de07-46a6-aa08-8906f255ae65 e3c8391f-2734-44a4-b1d4-729d7637f6d6 g.chr1:155429593G>C ENST00000368346.3 - 4 5720 c.5081C>G c.(5080-5082)tCa>tGa p.S1694* ASH1L_ENST00000392403.3_Nonsense_Mutation_p.S1694* Q9NR48 ASH1L_HUMAN ash1 (absent, small, or homeotic)-like (Drosophila) 1694 Ser-rich. cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|Golgi apparatus|nucleus|tight junction DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4) 124 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) CTAGCCTGTTGAAGAAGTACT 0.423 7 16 --- --- --- --- SMG7 9887 broad.mit.edu 37 1 183514379 183514379 + Nonsense_Mutation SNP C C T TCGA-EJ-A8FS-01A-11D-A34U-08 TCGA-EJ-A8FS-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d86eaa-de07-46a6-aa08-8906f255ae65 e3c8391f-2734-44a4-b1d4-729d7637f6d6 g.chr1:183514379C>T ENST00000367537.3 + 17 2446 c.2251C>T c.(2251-2253)Caa>Taa p.Q751* SMG7_ENST00000507469.1_Nonsense_Mutation_p.Q722*|SMG7_ENST00000515829.2_Nonsense_Mutation_p.Q722*|SMG7_ENST00000347615.2_Nonsense_Mutation_p.Q768*|SMG7_ENST00000508461.1_Nonsense_Mutation_p.Q726*|SMG7_ENST00000456731.2_Nonsense_Mutation_p.Q680* Q92540 SMG7_HUMAN SMG7 nonsense mediated mRNA decay factor 768 Gln/Pro-rich. mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation cytoplasm|intermediate filament cytoskeleton|nucleus protein phosphatase 2A binding breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 AACTCAGCAACAACAATCCCC 0.512 4 74 --- --- --- --- LRRN2 10446 broad.mit.edu 37 1 204589109 204589109 + Silent SNP G G A TCGA-EJ-A8FS-01A-11D-A34U-08 TCGA-EJ-A8FS-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d86eaa-de07-46a6-aa08-8906f255ae65 e3c8391f-2734-44a4-b1d4-729d7637f6d6 g.chr1:204589109G>A ENST00000367175.1 - 1 2224 c.12C>T c.(10-12)ctC>ctT p.L4L LRRN2_ENST00000367177.3_Silent_p.L4L|LRRN2_ENST00000496057.1_5'UTR|LRRN2_ENST00000367176.3_Silent_p.L4L O75325 LRRN2_HUMAN leucine rich repeat neuronal 2 4 cell adhesion integral to membrane receptor activity central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 38 all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143) GTGGGGCCACGAGAAGCCTCA 0.617 3 5 --- --- --- --- NUP133 55746 broad.mit.edu 37 1 229580721 229580721 + Missense_Mutation SNP G G A TCGA-EJ-A8FS-01A-11D-A34U-08 TCGA-EJ-A8FS-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d86eaa-de07-46a6-aa08-8906f255ae65 e3c8391f-2734-44a4-b1d4-729d7637f6d6 g.chr1:229580721G>A ENST00000261396.3 - 25 3365 c.3274C>T c.(3274-3276)Cca>Tca p.P1092S NUP133_ENST00000537506.1_Missense_Mutation_p.P1076S NM_018230.2 NP_060700.2 Q8WUM0 NU133_HUMAN nucleoporin 133kDa 1092 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex nucleocytoplasmic transporter activity|protein binding NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4) 56 Breast(184;0.104)|Ovarian(103;0.249) Prostate(94;0.167) ACTTCAATTGGATCATCTTTG 0.318 31 98 --- --- --- --- OTX1 5013 broad.mit.edu 37 2 63282953 63282953 + Silent SNP G G A TCGA-EJ-A8FS-01A-11D-A34U-08 TCGA-EJ-A8FS-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d86eaa-de07-46a6-aa08-8906f255ae65 e3c8391f-2734-44a4-b1d4-729d7637f6d6 g.chr2:63282953G>A ENST00000282549.2 + 5 843 c.567G>A c.(565-567)gcG>gcA p.A189A OTX1_ENST00000366671.3_Silent_p.A189A NM_014562.3 NP_055377.1 P32242 OTX1_HUMAN orthodenticle homeobox 1 189 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 20 Lung NSC(7;0.121)|all_lung(7;0.211) CAGCGCCCGCGTCCGTGTCGG 0.682 7 11 --- --- --- --- MLPH 79083 broad.mit.edu 37 2 238402143 238402143 + Missense_Mutation SNP A A T TCGA-EJ-A8FS-01A-11D-A34U-08 TCGA-EJ-A8FS-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d86eaa-de07-46a6-aa08-8906f255ae65 e3c8391f-2734-44a4-b1d4-729d7637f6d6 g.chr2:238402143A>T ENST00000264605.3 + 2 368 c.74A>T c.(73-75)gAt>gTt p.D25V MLPH_ENST00000338530.4_Missense_Mutation_p.D25V|MLPH_ENST00000409373.1_Missense_Mutation_p.D25V|MLPH_ENST00000410032.1_Missense_Mutation_p.D25V|MLPH_ENST00000468178.1_3'UTR|MLPH_ENST00000445024.2_Missense_Mutation_p.D25V NM_024101.5 NP_077006.1 Q9BV36 MELPH_HUMAN melanophilin 25 RabBD. metal ion binding NS(1)|breast(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1) 25 Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203) Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316) GTTCAACGAGATTTTGACCTC 0.542 22 74 --- --- --- --- CHRNA9 55584 broad.mit.edu 37 4 40351353 40351353 + Missense_Mutation SNP A A G TCGA-EJ-A8FS-01A-11D-A34U-08 TCGA-EJ-A8FS-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d86eaa-de07-46a6-aa08-8906f255ae65 e3c8391f-2734-44a4-b1d4-729d7637f6d6 g.chr4:40351353A>G ENST00000310169.2 + 4 959 c.820A>G c.(820-822)Acc>Gcc p.T274A NM_017581.3 NP_060051.2 Q9UGM1 ACHA9_HUMAN cholinergic receptor, nicotinic, alpha 9 (neuronal) 274 elevation of cytosolic calcium ion concentration|synaptic transmission cell junction|postsynaptic membrane calcium channel activity|receptor activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1) 33 Nicotine(DB00184) CCTGGGAGTGACCATCCTGTT 0.507 84 151 --- --- --- --- ELF2 1998 broad.mit.edu 37 4 139980684 139980684 + Nonsense_Mutation SNP G G C TCGA-EJ-A8FS-01A-11D-A34U-08 TCGA-EJ-A8FS-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d86eaa-de07-46a6-aa08-8906f255ae65 e3c8391f-2734-44a4-b1d4-729d7637f6d6 g.chr4:139980684G>C ENST00000394235.2 - 10 1701 c.1199C>G c.(1198-1200)tCa>tGa p.S400* ELF2_ENST00000379549.2_Nonsense_Mutation_p.S323*|ELF2_ENST00000358635.3_Nonsense_Mutation_p.S352*|ELF2_ENST00000265495.4_Nonsense_Mutation_p.S400*|ELF2_ENST00000379550.1_Nonsense_Mutation_p.S412*|ELF2_ENST00000510408.1_Nonsense_Mutation_p.S340*|ELF2_ENST00000515489.1_Intron NM_001276458.1 NP_001263387.1 Q15723 ELF2_HUMAN E74-like factor 2 (ets domain transcription factor) 412 negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter cytoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|ovary(1)|skin(1) 19 all_hematologic(180;0.162) TGCATTAACTGACTGAACTGC 0.433 4 105 --- --- --- --- FAT1 2195 broad.mit.edu 37 4 187540591 187540591 + Silent SNP G G A TCGA-EJ-A8FS-01A-11D-A34U-08 TCGA-EJ-A8FS-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d86eaa-de07-46a6-aa08-8906f255ae65 e3c8391f-2734-44a4-b1d4-729d7637f6d6 g.chr4:187540591G>A ENST00000441802.2 - 10 7358 c.7149C>T c.(7147-7149)ctC>ctT p.L2383L NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 2383 Cadherin 21. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 GATTATCATTGAGGTCGGTAA 0.502 HNSCC(5;0.00058) 18 44 --- --- --- --- PDZD2 23037 broad.mit.edu 37 5 32089032 32089032 + Silent SNP T T C TCGA-EJ-A8FS-01A-11D-A34U-08 TCGA-EJ-A8FS-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d86eaa-de07-46a6-aa08-8906f255ae65 e3c8391f-2734-44a4-b1d4-729d7637f6d6 g.chr5:32089032T>C ENST00000438447.1 + 20 5866 c.5478T>C c.(5476-5478)ccT>ccC p.P1826P PDZD2_ENST00000282493.3_Silent_p.P1826P O15018 PDZD2_HUMAN PDZ domain containing 2 1826 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 CTCTAATGCCTGCCAGAAGTC 0.468 29 46 --- --- --- --- EGR1 1958 broad.mit.edu 37 5 137802637 137802637 + Missense_Mutation SNP C C G TCGA-EJ-A8FS-01A-11D-A34U-08 TCGA-EJ-A8FS-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d86eaa-de07-46a6-aa08-8906f255ae65 e3c8391f-2734-44a4-b1d4-729d7637f6d6 g.chr5:137802637C>G ENST00000239938.4 + 2 771 c.499C>G c.(499-501)Cca>Gca p.P167A NM_001964.2 NP_001955.1 P18146 EGR1_HUMAN early growth response 1 167 cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway cytoplasm|nucleus histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) CATGACCAACCCACCGGCCTC 0.652 48 74 --- --- --- --- PCDHA7 56141 broad.mit.edu 37 5 140215504 140215504 + Silent SNP G G T TCGA-EJ-A8FS-01A-11D-A34U-08 TCGA-EJ-A8FS-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d86eaa-de07-46a6-aa08-8906f255ae65 e3c8391f-2734-44a4-b1d4-729d7637f6d6 g.chr5:140215504G>T ENST00000525929.1 + 1 1536 c.1536G>T c.(1534-1536)gcG>gcT p.A512A PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000378125.3_Silent_p.A512A|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron NM_018910.2 NP_061733.1 NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAGTGCACGCGGAGAGCGGCA 0.701 61 101 --- --- --- --- GTF3C6 112495 broad.mit.edu 37 6 111288987 111288987 + Silent SNP G G A TCGA-EJ-A8FS-01A-11D-A34U-08 TCGA-EJ-A8FS-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d86eaa-de07-46a6-aa08-8906f255ae65 e3c8391f-2734-44a4-b1d4-729d7637f6d6 g.chr6:111288987G>A ENST00000329970.7 + 6 846 c.636G>A c.(634-636)ctG>ctA p.L212L GTF3C6_ENST00000480191.1_3'UTR NM_138408.3 NP_612417.1 Q969F1 TF3C6_HUMAN general transcription factor IIIC, polypeptide 6, alpha 35kDa 212 transcription factor TFIIIC complex DNA binding|protein binding NS(1)|kidney(1)|large_intestine(1)|lung(1) 4 all_cancers(87;0.00328)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|Colorectal(196;0.0466)|all_epithelial(87;0.0575) OV - Ovarian serous cystadenocarcinoma(136;0.105)|all cancers(137;0.179)|Epithelial(106;0.186) CTCAAATGCTGCCTTAGAAAT 0.338 3 29 --- --- --- --- TIAM2 26230 broad.mit.edu 37 6 155565186 155565186 + Missense_Mutation SNP G G C TCGA-EJ-A8FS-01A-11D-A34U-08 TCGA-EJ-A8FS-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d86eaa-de07-46a6-aa08-8906f255ae65 e3c8391f-2734-44a4-b1d4-729d7637f6d6 g.chr6:155565186G>C ENST00000461783.3 + 19 4663 c.3390G>C c.(3388-3390)caG>caC p.Q1130H TIAM2_ENST00000367174.2_Missense_Mutation_p.Q506H|TIAM2_ENST00000529824.2_Missense_Mutation_p.Q1130H|TIAM2_ENST00000456144.1_Missense_Mutation_p.Q1130H|TIAM2_ENST00000456877.2_Missense_Mutation_p.Q442H|TIAM2_ENST00000360366.4_Missense_Mutation_p.Q1154H|TIAM2_ENST00000528391.2_Missense_Mutation_p.Q466H|TIAM2_ENST00000275246.7_Missense_Mutation_p.Q55H|TIAM2_ENST00000318981.5_Missense_Mutation_p.Q1130H Q8IVF5 TIAM2_HUMAN T-cell lymphoma invasion and metastasis 2 1130 DH. apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|filopodium|growth cone|lamellipodium receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 65 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053) AGCCACTTCAGAATGAGACCT 0.398 39 65 --- --- --- --- PPP1R3A 5506 broad.mit.edu 37 7 113519779 113519779 + Silent SNP G G C TCGA-EJ-A8FS-01A-11D-A34U-08 TCGA-EJ-A8FS-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d86eaa-de07-46a6-aa08-8906f255ae65 e3c8391f-2734-44a4-b1d4-729d7637f6d6 g.chr7:113519779G>C ENST00000284601.3 - 4 1436 c.1368C>G c.(1366-1368)ccC>ccG p.P456P NM_002711.3 NP_002702.2 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory subunit 3A 456 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 GATCTGAAGAGGGGCAAGGTA 0.398 5 103 --- --- --- --- KIAA1147 57189 broad.mit.edu 37 7 141385300 141385300 + Missense_Mutation SNP G G C TCGA-EJ-A8FS-01A-11D-A34U-08 TCGA-EJ-A8FS-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d86eaa-de07-46a6-aa08-8906f255ae65 e3c8391f-2734-44a4-b1d4-729d7637f6d6 g.chr7:141385300G>C ENST00000536163.1 - 3 504 c.505C>G c.(505-507)Cac>Gac p.H169D KIAA1147_ENST00000482493.1_Missense_Mutation_p.H78D NM_001080392.1 NP_001073861.1 A4D1U4 LCHN_HUMAN KIAA1147 169 breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|ovary(1)|skin(1) 12 Melanoma(164;0.0171) TCCAAGAAGTGCATGTAGCGG 0.592 51 77 --- --- --- --- ADHFE1 137872 broad.mit.edu 37 8 67356974 67356974 + Missense_Mutation SNP C C T TCGA-EJ-A8FS-01A-11D-A34U-08 TCGA-EJ-A8FS-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d86eaa-de07-46a6-aa08-8906f255ae65 e3c8391f-2734-44a4-b1d4-729d7637f6d6 g.chr8:67356974C>T ENST00000396623.3 + 5 375 c.344C>T c.(343-345)aCg>aTg p.T115M ADHFE1_ENST00000496501.1_3'UTR|ADHFE1_ENST00000379385.4_Missense_Mutation_p.T115M|ADHFE1_ENST00000415254.1_Missense_Mutation_p.T67M NM_144650.2 NP_653251.2 Q8IWW8 HOT_HUMAN alcohol dehydrogenase, iron containing, 1 115 2-oxoglutarate metabolic process|molecular hydrogen transport mitochondrial matrix hydroxyacid-oxoacid transhydrogenase activity|metal ion binding p.T67M(1)|p.T115M(1) breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2) 29 Lung NSC(129;0.197) Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226) GTGGAACCAACGGATTCAAGG 0.438 4 195 --- --- --- --- SMC2 10592 broad.mit.edu 37 9 106876995 106876995 + Missense_Mutation SNP G G C TCGA-EJ-A8FS-01A-11D-A34U-08 TCGA-EJ-A8FS-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d86eaa-de07-46a6-aa08-8906f255ae65 e3c8391f-2734-44a4-b1d4-729d7637f6d6 g.chr9:106876995G>C ENST00000286398.7 + 13 1844 c.1556G>C c.(1555-1557)aGa>aCa p.R519T SMC2_ENST00000303219.8_Missense_Mutation_p.R519T|SMC2_ENST00000374787.3_Missense_Mutation_p.R519T|SMC2_ENST00000374793.3_Missense_Mutation_p.R519T NM_001042551.1|NM_001265602.1|NM_006444.2 NP_001036016.1|NP_001252531.1|NP_006435.2 O95347 SMC2_HUMAN structural maintenance of chromosomes 2 519 Flexible hinge. cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism condensin complex|cytoplasm|nuclear chromosome ATP binding|protein heterodimerization activity breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2) 48 AACTGGAATAGAAATTGTGTG 0.358 26 54 --- --- --- --- ITIH2 3698 broad.mit.edu 37 10 7745433 7745433 + Missense_Mutation SNP T T A TCGA-EJ-A8FS-01A-11D-A34U-08 TCGA-EJ-A8FS-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d86eaa-de07-46a6-aa08-8906f255ae65 e3c8391f-2734-44a4-b1d4-729d7637f6d6 g.chr10:7745433T>A ENST00000358415.4 + 1 202 c.36T>A c.(34-36)ttT>ttA p.F12L ITIH2_ENST00000480387.1_3'UTR|ITIH2_ENST00000379587.4_Missense_Mutation_p.F12L NM_002216.2 NP_002207.2 P19823 ITIH2_HUMAN inter-alpha-trypsin inhibitor heavy chain 2 12 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 TCTGCTTCTTTCTTTCTGAAG 0.428 37 95 --- --- --- --- FAM178A 55719 broad.mit.edu 37 10 102684014 102684014 + Missense_Mutation SNP C C G TCGA-EJ-A8FS-01A-11D-A34U-08 TCGA-EJ-A8FS-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d86eaa-de07-46a6-aa08-8906f255ae65 e3c8391f-2734-44a4-b1d4-729d7637f6d6 g.chr10:102684014C>G ENST00000238961.4 + 5 1798 c.1256C>G c.(1255-1257)tCt>tGt p.S419C FAM178A_ENST00000370269.3_Missense_Mutation_p.S419C|FAM178A_ENST00000370271.3_Missense_Mutation_p.S419C NM_018121.3 NP_060591.3 Q8IX21 F178A_HUMAN family with sequence similarity 178, member A GGCCACCATTCTACCAGGAAT 0.443 48 65 --- --- --- --- PPP1R13B 23368 broad.mit.edu 37 14 104212714 104212714 + Silent SNP T T C TCGA-EJ-A8FS-01A-11D-A34U-08 TCGA-EJ-A8FS-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d86eaa-de07-46a6-aa08-8906f255ae65 e3c8391f-2734-44a4-b1d4-729d7637f6d6 g.chr14:104212714T>C ENST00000202556.9 - 9 1428 c.1146A>G c.(1144-1146)aaA>aaG p.K382K PPP1R13B_ENST00000423488.2_5'UTR NM_015316.2 NP_056131.2 Q96KQ4 ASPP1_HUMAN protein phosphatase 1, regulatory subunit 13B 382 apoptosis|induction of apoptosis|negative regulation of cell cycle cytoplasm|nucleus|plasma membrane protein binding endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1) 33 all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155) ACTCACCGGATTTGGATCTTC 0.607 15 17 --- --- --- --- EPB42 2038 broad.mit.edu 37 15 43500934 43500934 + Missense_Mutation SNP G G A TCGA-EJ-A8FS-01A-11D-A34U-08 TCGA-EJ-A8FS-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d86eaa-de07-46a6-aa08-8906f255ae65 e3c8391f-2734-44a4-b1d4-729d7637f6d6 g.chr15:43500934G>A ENST00000300215.3 - 7 1419 c.962C>T c.(961-963)aCg>aTg p.T321M EPB42_ENST00000441366.2_Missense_Mutation_p.T291M|EPB42_ENST00000540029.1_Missense_Mutation_p.T213M P16452 EPB42_HUMAN erythrocyte membrane protein band 4.2 291 erythrocyte maturation|peptide cross-linking|regulation of cell shape cytoplasm|cytoskeleton|plasma membrane ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;8.7e-07) TGAGGCAAACGTGGTCACCAC 0.612 31 54 --- --- --- --- TRAP1 10131 broad.mit.edu 37 16 3713497 3713497 + Missense_Mutation SNP T T G rs143144399 TCGA-EJ-A8FS-01A-11D-A34U-08 TCGA-EJ-A8FS-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d86eaa-de07-46a6-aa08-8906f255ae65 e3c8391f-2734-44a4-b1d4-729d7637f6d6 g.chr16:3713497T>G ENST00000575671.1 - 9 1738 c.1009A>C c.(1009-1011)Aag>Cag p.K337Q DNASE1_ENST00000575152.1_3'UTR|DNASE1_ENST00000414110.2_3'UTR|TRAP1_ENST00000246957.5_Missense_Mutation_p.K546Q|TRAP1_ENST00000538171.1_Missense_Mutation_p.K493Q Q12931 TRAP1_HUMAN TNF receptor-associated protein 1 546 cellular response to oxidative stress|protein folding mitochondrion ATP binding|tumor necrosis factor receptor binding|unfolded protein binding central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 19 Ovarian(90;0.0261) GAGATCAGCTTCTTCTTGTCA 0.552 22 53 --- --- --- --- MYH11 4629 broad.mit.edu 37 16 15808890 15808890 + Missense_Mutation SNP C C T TCGA-EJ-A8FS-01A-11D-A34U-08 TCGA-EJ-A8FS-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d86eaa-de07-46a6-aa08-8906f255ae65 e3c8391f-2734-44a4-b1d4-729d7637f6d6 g.chr16:15808890C>T ENST00000452625.2 - 41 5770 c.5683G>A c.(5683-5685)Gag>Aag p.E1895K NDE1_ENST00000396355.1_Intron|MYH11_ENST00000396324.3_Missense_Mutation_p.E1895K|NDE1_ENST00000396354.1_Intron|NDE1_ENST00000342673.5_Intron|MYH11_ENST00000576790.2_Missense_Mutation_p.E1888K|MYH11_ENST00000300036.5_Missense_Mutation_p.E1888K NM_001040113.1 NP_001035202.1 P35749 MYH11_HUMAN myosin, heavy chain 11, smooth muscle 1888 axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction cytosol|melanosome|muscle myosin complex|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1) 123 TCCTCTGCCTCCTCCAGCTGC 0.667 T CBFB AML 62 179 --- --- --- --- SPOP 8405 broad.mit.edu 37 17 47696643 47696643 + Missense_Mutation SNP A A G TCGA-EJ-A8FS-01A-11D-A34U-08 TCGA-EJ-A8FS-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d86eaa-de07-46a6-aa08-8906f255ae65 e3c8391f-2734-44a4-b1d4-729d7637f6d6 g.chr17:47696643A>G ENST00000393331.3 - 6 775 c.305T>C c.(304-306)tTc>tCc p.F102S SPOP_ENST00000504102.1_Missense_Mutation_p.F102S|SPOP_ENST00000503676.1_Missense_Mutation_p.F102S|SPOP_ENST00000393328.2_Missense_Mutation_p.F102S|SPOP_ENST00000347630.2_Missense_Mutation_p.F102S NM_001007226.1|NM_001007227.1 NP_001007227.1|NP_001007228.1 O43791 SPOP_HUMAN speckle-type POZ protein 102 MATH.|Required for nuclear localization. mRNA processing nucleus protein binding p.F102C(2) endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33) 63 GGAGAATTTGAATTTTGCCCG 0.408 Prostate(2;0.17) 55 72 --- --- --- --- ALPK2 115701 broad.mit.edu 37 18 56246451 56246451 + Missense_Mutation SNP T T A TCGA-EJ-A8FS-01A-11D-A34U-08 TCGA-EJ-A8FS-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d86eaa-de07-46a6-aa08-8906f255ae65 e3c8391f-2734-44a4-b1d4-729d7637f6d6 g.chr18:56246451T>A ENST00000361673.3 - 4 1770 c.1557A>T c.(1555-1557)agA>agT p.R519S NM_052947.3 NP_443179.3 Q86TB3 ALPK2_HUMAN alpha-kinase 2 519 ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2) 84 TTCCCCCCACTCTCTTGTCAG 0.522 OREG0025011 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 48 105 --- --- --- --- DNASE2 1777 broad.mit.edu 37 19 12986907 12986907 + Missense_Mutation SNP C C A TCGA-EJ-A8FS-01A-11D-A34U-08 TCGA-EJ-A8FS-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d86eaa-de07-46a6-aa08-8906f255ae65 e3c8391f-2734-44a4-b1d4-729d7637f6d6 g.chr19:12986907C>A ENST00000222219.3 - 6 1072 c.980G>T c.(979-981)tGt>tTt p.C327F DNASE2_ENST00000538460.1_Missense_Mutation_p.C272F NM_001375.2 NP_001366.1 O00115 DNS2A_HUMAN deoxyribonuclease II, lysosomal 327 apoptosis lysosome deoxyribonuclease II activity|DNA binding|protein binding breast(1)|large_intestine(1)|lung(4)|ovary(1) 7 CAGCTGGGCACACAGTGTGCC 0.602 37 59 --- --- --- --- CYP2A13 1553 broad.mit.edu 37 19 41595990 41595990 + Missense_Mutation SNP C C T TCGA-EJ-A8FS-01A-11D-A34U-08 TCGA-EJ-A8FS-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d86eaa-de07-46a6-aa08-8906f255ae65 e3c8391f-2734-44a4-b1d4-729d7637f6d6 g.chr19:41595990C>T ENST00000330436.3 + 3 382 c.382C>T c.(382-384)Cgg>Tgg p.R128W NM_000766.4 NP_000757.2 Q16696 CP2AD_HUMAN cytochrome P450, family 2, subfamily A, polypeptide 13 128 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2) 42 Clomipramine(DB01242)|Nicotine(DB00184) CAAGCAGCTCCGGCGCTTCTC 0.701 3 23 --- --- --- --- PDE9A 5152 broad.mit.edu 37 21 44190855 44190855 + Nonsense_Mutation SNP G G T TCGA-EJ-A8FS-01A-11D-A34U-08 TCGA-EJ-A8FS-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d86eaa-de07-46a6-aa08-8906f255ae65 e3c8391f-2734-44a4-b1d4-729d7637f6d6 g.chr21:44190855G>T ENST00000291539.6 + 18 1693 c.1633G>T c.(1633-1635)Gaa>Taa p.E545* PDE9A_ENST00000398227.3_Nonsense_Mutation_p.E385*|PDE9A_ENST00000328862.6_Nonsense_Mutation_p.E519*|PDE9A_ENST00000398224.3_Nonsense_Mutation_p.E418*|PDE9A_ENST00000398232.3_Nonsense_Mutation_p.E478*|PDE9A_ENST00000349112.3_Nonsense_Mutation_p.E417*|PDE9A_ENST00000335440.6_Nonsense_Mutation_p.E443*|PDE9A_ENST00000539837.1_Nonsense_Mutation_p.E417*|PDE9A_ENST00000398229.3_Nonsense_Mutation_p.E411*|PDE9A_ENST00000335512.4_Nonsense_Mutation_p.E485*|PDE9A_ENST00000380328.2_Nonsense_Mutation_p.E492*|PDE9A_ENST00000398234.3_Nonsense_Mutation_p.E444*|PDE9A_ENST00000398236.3_Nonsense_Mutation_p.E459*|PDE9A_ENST00000470987.1_3'UTR|PDE9A_ENST00000398225.3_Nonsense_Mutation_p.E504* NM_002606.2 NP_002597.1 O76083 PDE9A_HUMAN phosphodiesterase 9A 545 Catalytic (By similarity). platelet activation|signal transduction cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 27 GCCACTTTGGGAATCCCGAGA 0.527 21 6 --- --- --- --- NKAP 79576 broad.mit.edu 37 X 119077407 119077407 + Silent SNP A A G TCGA-EJ-A8FS-01A-11D-A34U-08 TCGA-EJ-A8FS-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d86eaa-de07-46a6-aa08-8906f255ae65 e3c8391f-2734-44a4-b1d4-729d7637f6d6 g.chrX:119077407A>G ENST00000371410.3 - 1 328 c.162T>C c.(160-162)aaT>aaC p.N54N NM_024528.3 NP_078804.2 Q8N5F7 NKAP_HUMAN NFKB activating protein 54 Ser-rich. negative regulation of transcription, DNA-dependent|Notch signaling pathway|positive regulation of alpha-beta T cell differentiation|transcription, DNA-dependent cytoplasm|nucleus chromatin binding|protein binding breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1) 20 GGGTGAGTCCATTCCGGTCCC 0.682 5 1 --- --- --- --- RFPL4B 442247 broad.mit.edu 37 6 112671567 112671568 + Frame_Shift_Ins INS - - T TCGA-EJ-A8FS-01A-11D-A34U-08 TCGA-EJ-A8FS-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d86eaa-de07-46a6-aa08-8906f255ae65 e3c8391f-2734-44a4-b1d4-729d7637f6d6 g.chr6:112671567_112671568insT ENST00000441065.2 + 3 969_970 c.657_658insT c.(658-660)tttfs p.F220fs NM_001013734.2 NP_001013756.2 Q6ZWI9 RFPLB_HUMAN ret finger protein-like 4B 220 B30.2/SPRY. zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1) 14 all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209) all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244) AAGAAATCCAGTTTTTTGATGT 0.455 17 25 --- --- --- ---