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 MS4A3 932 broad.mit.edu 37 11 59830060 59830060 + Silent SNP G G A TCGA-HT-8108-01A-11D-2395-08 TCGA-HT-8108-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83398327-b05a-4e54-ae4b-1cffc6bde4da 657f8664-082c-411b-92f1-2e5e82ad5bd5 g.chr11:59830060G>A ENST00000278865.3 + 3 349 c.276G>A c.(274-276)ccG>ccA p.P92P MS4A3_ENST00000358152.2_Intron|MS4A3_ENST00000534744.1_Intron|MS4A3_ENST00000395032.2_Intron NM_006138.4 NP_006129.4 Q96HJ5 MS4A3_HUMAN membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific) 92 endomembrane system|integral to membrane|perinuclear region of cytoplasm protein binding|receptor activity endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 21 all_epithelial(135;0.245) CAGGCTACCCGATTTGGGGTG 0.423000 47 57 0 0 1 0 0 TENM1 10178 broad.mit.edu 37 X 123518058 123518058 + Silent SNP C C T TCGA-HT-8108-01A-11D-2395-08 TCGA-HT-8108-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83398327-b05a-4e54-ae4b-1cffc6bde4da 657f8664-082c-411b-92f1-2e5e82ad5bd5 g.chrX:123518058C>T ENST00000422452.2 - 30 6786 c.6723G>A c.(6721-6723)ctG>ctA p.L2241L TENM1_ENST00000371130.3_Silent_p.L2234L|STAG2_ENST00000469481.1_Intron NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 AGGCTTTCTGCAGCAGGCCAT 0.458000 47 65 0 0 1 0 0 CDK10 8558 broad.mit.edu 37 16 89755723 89755723 + Missense_Mutation SNP G G A TCGA-HT-8108-01A-11D-2395-08 TCGA-HT-8108-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83398327-b05a-4e54-ae4b-1cffc6bde4da 657f8664-082c-411b-92f1-2e5e82ad5bd5 g.chr16:89755723G>A ENST00000353379.7 + 2 194 c.151G>A c.(151-153)Ggc>Agc p.G51S CDK10_ENST00000514965.1_3'UTR|CDK10_ENST00000505473.1_5'UTR|CDK10_ENST00000331006.8_Intron NM_001098533.2|NM_001160367.1|NM_052988.4 NP_001092003.2|NP_001153839.1|NP_443714.3 Q15131 CDK10_HUMAN cyclin-dependent kinase 10 51 Protein kinase. negative regulation of cell proliferation|traversing start control point of mitotic cell cycle ATP binding|cyclin-dependent protein kinase activity|protein binding ovary(1) 1 Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256) BRCA - Breast invasive adenocarcinoma(80;0.0276) GGGTACCTACGGCATTGTGTG 0.582000 28 41 0 0 1 0 0 LRRC43 254050 broad.mit.edu 37 12 122684844 122684844 + Silent SNP G G A TCGA-HT-8108-01A-11D-2395-08 TCGA-HT-8108-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83398327-b05a-4e54-ae4b-1cffc6bde4da 657f8664-082c-411b-92f1-2e5e82ad5bd5 g.chr12:122684844G>A ENST00000339777.4 + 8 1486 c.1458G>A c.(1456-1458)ctG>ctA p.L486L LRRC43_ENST00000425921.1_Silent_p.L301L NM_152759.4 NP_689972.3 Q8N309 LRC43_HUMAN leucine rich repeat containing 43 486 NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2) 19 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225) CCTTCCTGCTGGCGGGGACCA 0.627000 6 108 0 0 1 0 0 CADM1 23705 broad.mit.edu 37 11 115109342 115109342 + Missense_Mutation SNP T T C TCGA-HT-8108-01A-11D-2395-08 TCGA-HT-8108-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83398327-b05a-4e54-ae4b-1cffc6bde4da 657f8664-082c-411b-92f1-2e5e82ad5bd5 g.chr11:115109342T>C ENST00000542447.2 - 3 430 c.302A>G c.(301-303)aAt>aGt p.N101S CADM1_ENST00000452722.2_Missense_Mutation_p.N101S|CADM1_ENST00000536727.1_Missense_Mutation_p.N101S|CADM1_ENST00000537058.1_Missense_Mutation_p.N101S|CADM1_ENST00000331581.6_Missense_Mutation_p.N101S|CADM1_ENST00000537140.1_5'UTR NM_001098517.1 NP_001091987.1 Q9BY67 CADM1_HUMAN cell adhesion molecule 1 101 Ig-like V-type. adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity basolateral plasma membrane|cell-cell junction|integral to membrane PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1) 32 all_hematologic(175;0.0628) all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237) BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303) GCTAGAAAAATTCAGCAACTG 0.393000 27 27 0 0 1 0 0 CIDECP 0 broad.mit.edu 37 3 10059658 10059658 + RNA SNP G G T rs9862221 by1000genomes TCGA-HT-8108-01A-11D-2395-08 TCGA-HT-8108-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83398327-b05a-4e54-ae4b-1cffc6bde4da 657f8664-082c-411b-92f1-2e5e82ad5bd5 g.chr3:10059658G>T ENST00000432401.1 - 0 505 GGGGATGCCCGTCCTCTGTGG 0.597000 5 102 0.184627 0.184627 1 1 0 BBS7 0 broad.mit.edu 37 4 122756377 122756377 + Missense_Mutation SNP G G T TCGA-HT-8108-01A-11D-2395-08 TCGA-HT-8108-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83398327-b05a-4e54-ae4b-1cffc6bde4da 657f8664-082c-411b-92f1-2e5e82ad5bd5 g.chr4:122756377G>T ENST00000264499.4 - 14 1616 c.1433C>A c.(1432-1434)cCc>cAc p.P478H BBS7_ENST00000506636.1_Missense_Mutation_p.P478H NM_176824.2 NP_789794.1 Q8IWZ6 BBS7_HUMAN Bardet-Biedl syndrome 7 478 cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception BBSome|centrosome|cilium membrane protein binding central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2) 30 ACAGGTTTTGGGTTGAATTCT 0.393000 Bardet-Biedl syndrome 18 44 5.3912e-06 5.81683e-06 1 1 0 IL18 3606 broad.mit.edu 37 11 112014361 112014361 + Missense_Mutation SNP C C A TCGA-HT-8108-01A-11D-2395-08 TCGA-HT-8108-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83398327-b05a-4e54-ae4b-1cffc6bde4da 657f8664-082c-411b-92f1-2e5e82ad5bd5 g.chr11:112014361C>A ENST00000280357.7 - 6 759 c.540G>T c.(538-540)ttG>ttT p.L180F SDHD_ENST00000532699.1_Intron|IL18_ENST00000524595.1_Missense_Mutation_p.L176F|IL18_ENST00000528832.1_Missense_Mutation_p.L180F NM_001562.3 NP_001553.1 Q14116 IL18_HUMAN interleukin 18 (interferon-gamma-inducing factor) 180 angiogenesis|cell-cell signaling|chemokine biosynthetic process|granulocyte macrophage colony-stimulating factor biosynthetic process|interferon-gamma biosynthetic process|interleukin-13 biosynthetic process|interleukin-2 biosynthetic process|positive regulation of activated T cell proliferation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma production|positive regulation of interleukin-17 production|positive regulation of natural killer cell proliferation|positive regulation of NK T cell proliferation|regulation of cell adhesion|sleep|T-helper 1 type immune response|type 2 immune response cytosol|extracellular space cytokine activity|signal transducer activity all_cancers(61;5.7e-14)|all_epithelial(67;3.4e-08)|Melanoma(852;8.81e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|Epithelial(105;8.15e-07)|all cancers(92;1.43e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.055) ATCTATCCCCCAATTCATCCT 0.388000 6 10 0.0215528 0.0220916 1 1 0 DCP1B 196513 broad.mit.edu 37 12 2062350 2062350 + Missense_Mutation SNP C C G TCGA-HT-8108-01A-11D-2395-08 TCGA-HT-8108-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83398327-b05a-4e54-ae4b-1cffc6bde4da 657f8664-082c-411b-92f1-2e5e82ad5bd5 g.chr12:2062350C>G ENST00000280665.6 - 7 835 c.756G>C c.(754-756)caG>caC p.Q252H DCP1B_ENST00000397173.4_Missense_Mutation_p.Q150H|DCP1B_ENST00000541700.1_5'UTR|DCP1B_ENST00000540622.1_Missense_Mutation_p.Q126H NM_152640.3 NP_689853.3 Q8IZD4 DCP1B_HUMAN decapping mRNA 1B 252 Poly-Gln. exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytosol|nucleus hydrolase activity|protein binding p.Q252H(8) NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1) 24 OV - Ovarian serous cystadenocarcinoma(31;0.00193) gctgctgctgctgGTGGAGAG 0.552000 4 72 0 0 1 0 0 KERA 11081 broad.mit.edu 37 12 91445220 91445220 + Missense_Mutation SNP T T C TCGA-HT-8108-01A-11D-2395-08 TCGA-HT-8108-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83398327-b05a-4e54-ae4b-1cffc6bde4da 657f8664-082c-411b-92f1-2e5e82ad5bd5 g.chr12:91445220T>C ENST00000266719.3 - 3 1209 c.962A>G c.(961-963)cAt>cGt p.H321R NM_007035.3 NP_008966.1 O60938 KERA_HUMAN keratocan 321 response to stimulus|visual perception proteinaceous extracellular matrix breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2) 19 GTAGCGAAGATGAGGTCCATA 0.438000 12 28 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152485384 152485384 + Missense_Mutation SNP C C T TCGA-HT-8108-01A-11D-2395-08 TCGA-HT-8108-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83398327-b05a-4e54-ae4b-1cffc6bde4da 657f8664-082c-411b-92f1-2e5e82ad5bd5 g.chr6:152485384C>T ENST00000367255.5 - 131 24305 c.23704G>A c.(23704-23706)Gct>Act p.A7902T SYNE1_ENST00000341594.5_Missense_Mutation_p.A7514T|SYNE1_ENST00000265368.4_Missense_Mutation_p.A7902T|SYNE1_ENST00000448038.1_Missense_Mutation_p.A7831T|SYNE1_ENST00000354674.4_Missense_Mutation_p.A57T|SYNE1_ENST00000539504.1_Missense_Mutation_p.A57T|SYNE1_ENST00000356820.4_Missense_Mutation_p.A2426T|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000423061.1_Missense_Mutation_p.A7831T NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 7902 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) TCGATGTGAGCGAGCCAGGTC 0.502000 HNSCC(10;0.0054) 58 25 0 0 1 0 0 RENBP 5973 broad.mit.edu 37 X 153208518 153208518 + Missense_Mutation SNP T T G TCGA-HT-8108-01A-11D-2395-08 TCGA-HT-8108-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83398327-b05a-4e54-ae4b-1cffc6bde4da 657f8664-082c-411b-92f1-2e5e82ad5bd5 g.chrX:153208518T>G ENST00000393700.3 - 6 556 c.476A>C c.(475-477)gAg>gCg p.E159A RENBP_ENST00000462086.1_5'UTR|RENBP_ENST00000412763.1_Missense_Mutation_p.E159A|RENBP_ENST00000369997.3_Missense_Mutation_p.E145A NM_002910.5 NP_002901.2 P51606 RENBP_HUMAN renin binding protein 159 mannose metabolic process|regulation of blood pressure endopeptidase inhibitor activity|mannose-6-phosphate isomerase activity|N-acylglucosamine 2-epimerase activity breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 20 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) N-Acetyl-D-glucosamine(DB00141) ATCCATCATCTCCACCGCTTC 0.711000 21 20 0 0 1 0 0 RGAG4 340526 broad.mit.edu 37 X 71350844 71350844 + Missense_Mutation SNP C C T TCGA-HT-8108-01A-11D-2395-08 TCGA-HT-8108-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83398327-b05a-4e54-ae4b-1cffc6bde4da 657f8664-082c-411b-92f1-2e5e82ad5bd5 g.chrX:71350844C>T ENST00000545866.1 - 1 914 c.547G>A c.(547-549)Ggg>Agg p.G183R RGAG4_ENST00000479991.1_Missense_Mutation_p.G183R|NHSL2_ENST00000540800.1_Intron Q5HYW3 RGAG4_HUMAN retrotransposon gag domain containing 4 183 cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1) 24 Renal(35;0.156) TCGGCGCCCCCGGGGAAATGA 0.582000 4 69 0 0 1 0 0 OPHN1 4983 broad.mit.edu 37 X 67414334 67414334 + Missense_Mutation SNP G G C TCGA-HT-8108-01A-11D-2395-08 TCGA-HT-8108-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83398327-b05a-4e54-ae4b-1cffc6bde4da 657f8664-082c-411b-92f1-2e5e82ad5bd5 g.chrX:67414334G>C ENST00000355520.5 - 13 1752 c.1111C>G c.(1111-1113)Cac>Gac p.H371D OPHN1_ENST00000540071.1_Missense_Mutation_p.H371D NM_002547.2 NP_002538.1 O60890 OPHN1_HUMAN oligophrenin 1 371 axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension axon|cell junction|cytosol|dendritic spine|synapse cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2) 31 ATAGGGCTGTGGTAGATCTAC 0.348000 19 25 0 0 1 0 0 IRS4 8471 broad.mit.edu 37 X 107979043 107979043 + Missense_Mutation SNP C C G TCGA-HT-8108-01A-11D-2395-08 TCGA-HT-8108-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83398327-b05a-4e54-ae4b-1cffc6bde4da 657f8664-082c-411b-92f1-2e5e82ad5bd5 g.chrX:107979043C>G ENST00000372129.2 - 1 608 c.532G>C c.(532-534)Gcg>Ccg p.A178P NM_003604.2 NP_003595.1 O14654 IRS4_HUMAN insulin receptor substrate 4 178 PH. plasma membrane insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1) 78 GCCACCATCGCGAAGTATTCG 0.612000 27 68 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179593263 179593263 + Missense_Mutation SNP C C T TCGA-HT-8108-01A-11D-2395-08 TCGA-HT-8108-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83398327-b05a-4e54-ae4b-1cffc6bde4da 657f8664-082c-411b-92f1-2e5e82ad5bd5 g.chr2:179593263C>T ENST00000589042.1 - 66 19614 c.19390G>A c.(19390-19392)Gga>Aga p.G6464R TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.G5220R|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.G6147R|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 6147 Ig-like 46. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CTACTGCTTCCGAAGTCATTT 0.398000 5 14 0 0 1 0 0 SIM1 6492 broad.mit.edu 37 6 100911318 100911318 + Silent SNP C C T TCGA-HT-8108-01A-11D-2395-08 TCGA-HT-8108-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83398327-b05a-4e54-ae4b-1cffc6bde4da 657f8664-082c-411b-92f1-2e5e82ad5bd5 g.chr6:100911318C>T ENST00000369208.3 - 2 809 c.27G>A c.(25-27)gcG>gcA p.A9A SIM1_ENST00000262901.4_Silent_p.A9A P81133 SIM1_HUMAN single-minded family bHLH transcription factor 1 9 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5) 79 all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0774) TCCTAGTCCGCGCAGCATTTT 0.423000 24 148 0 0 1 0 0 IL1R2 7850 broad.mit.edu 37 2 102641101 102641101 + Silent SNP G G A TCGA-HT-8108-01A-11D-2395-08 TCGA-HT-8108-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83398327-b05a-4e54-ae4b-1cffc6bde4da 657f8664-082c-411b-92f1-2e5e82ad5bd5 g.chr2:102641101G>A ENST00000332549.3 + 7 1087 c.858G>A c.(856-858)ccG>ccA p.P286P IL1R2_ENST00000441002.1_Silent_p.P286P|IL1R2_ENST00000485335.1_3'UTR|IL1R2_ENST00000393414.2_Silent_p.P286P NM_004633.3 NP_004624.1 P27930 IL1R2_HUMAN interleukin 1 receptor, type II 286 Ig-like C2-type 3. immune response integral to membrane|plasma membrane interleukin-1, Type II, blocking receptor activity breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1) 28 Anakinra(DB00026) GCGCCTACCCGGGAGGCCGCG 0.572000 4 75 0 0 1 0 0 IL36B 27177 broad.mit.edu 37 2 113788702 113788702 + Missense_Mutation SNP C C T TCGA-HT-8108-01A-11D-2395-08 TCGA-HT-8108-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83398327-b05a-4e54-ae4b-1cffc6bde4da 657f8664-082c-411b-92f1-2e5e82ad5bd5 g.chr2:113788702C>T ENST00000259213.4 - 3 151 c.44G>A c.(43-45)cGt>cAt p.R15H IL36B_ENST00000327407.2_Missense_Mutation_p.R15H NM_014438.3 NP_055253.2 Q9NZH7 IL36B_HUMAN interleukin 36, beta 15 immune response extracellular space cytokine activity|interleukin-1 receptor binding kidney(1)|ovary(1)|pancreas(1) 3 TCGAGAATCACGAATAGCATA 0.478000 17 40 0 0 1 0 0 EIF4A2 1974 broad.mit.edu 37 3 186501406 186501406 + Missense_Mutation SNP G G T TCGA-HT-8108-01A-11D-2395-08 TCGA-HT-8108-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83398327-b05a-4e54-ae4b-1cffc6bde4da 657f8664-082c-411b-92f1-2e5e82ad5bd5 g.chr3:186501406G>T ENST00000323963.5 + 1 71 c.7G>T c.(7-9)Ggt>Tgt p.G3C RP11-573D15.9_ENST00000577781.1_RNA|EIF4A2_ENST00000356531.5_5'UTR|EIF4A2_ENST00000440191.2_Missense_Mutation_p.G3C Q14240 IF4A2_HUMAN eukaryotic translation initiation factor 4A2 3 interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex ATP binding|ATP-dependent helicase activity|protein binding|translation initiation factor activity breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|urinary_tract(1) 28 all_cancers(143;2.68e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.07e-20) GBM - Glioblastoma multiforme(93;0.0704) GATCATGTCTGGTGGCTCCGC 0.572000 T BCL6 NHL 53 86 7.89702e-26 8.75075e-26 1 1 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-HT-8108-01A-11D-2395-08 TCGA-HT-8108-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83398327-b05a-4e54-ae4b-1cffc6bde4da 657f8664-082c-411b-92f1-2e5e82ad5bd5 g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) ATAAGCATGACGACCTATGAT 0.393000 Mis gliobastoma 29 44 0 0 1 0 0 GNAL 2774 broad.mit.edu 37 18 11880999 11880999 + Silent SNP G G A TCGA-HT-8108-01A-11D-2395-08 TCGA-HT-8108-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83398327-b05a-4e54-ae4b-1cffc6bde4da 657f8664-082c-411b-92f1-2e5e82ad5bd5 g.chr18:11880999G>A ENST00000334049.6 + 12 1850 c.1242G>A c.(1240-1242)acG>acA p.T414T GNAL_ENST00000602628.1_Silent_p.T130T|GNAL_ENST00000535980.1_3'UTR|GNAL_ENST00000535121.1_Silent_p.T337T|GNAL_ENST00000423027.3_Silent_p.T337T|GNAL_ENST00000269162.5_Silent_p.T337T NM_182978.3 NP_892023.1 P38405 GNAL_HUMAN guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type 337 activation of adenylate cyclase activity by dopamine receptor signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception of smell|synaptic transmission heterotrimeric G-protein complex adenylate cyclase activity|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1) 12 GGATCAGCACGGCCACCGGTG 0.622000 26 47 0 0 1 0 0 ROPN1L 83853 broad.mit.edu 37 5 10461352 10461352 + Silent SNP C C T TCGA-HT-8108-01A-11D-2395-08 TCGA-HT-8108-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83398327-b05a-4e54-ae4b-1cffc6bde4da 657f8664-082c-411b-92f1-2e5e82ad5bd5 g.chr5:10461352C>T ENST00000503804.1 + 5 995 c.474C>T c.(472-474)ggC>ggT p.G158G ROPN1L_ENST00000274134.4_Silent_p.G158G|ROPN1L_ENST00000510520.1_3'UTR Q96C74 ROP1L_HUMAN rhophilin associated tail protein 1-like 158 ciliary or flagellar motility|signal transduction cytoplasm|motile cilium cAMP-dependent protein kinase regulator activity|protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1) 14 ATCCGGAGGGCGGGCCCGCTC 0.567000 53 87 0 0 1 0 0 CYP2C9 1559 broad.mit.edu 37 10 96698494 96698494 + Missense_Mutation SNP C C A rs67807361 TCGA-HT-8108-01A-11D-2395-08 TCGA-HT-8108-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83398327-b05a-4e54-ae4b-1cffc6bde4da 657f8664-082c-411b-92f1-2e5e82ad5bd5 g.chr10:96698494C>A ENST00000260682.6 + 1 67 c.55C>A c.(55-57)Ctc>Atc p.L19I CYP2C9_ENST00000461906.1_3'UTR NM_000771.3 NP_000762.2 P11712 CP2C9_HUMAN cytochrome P450, family 2, subfamily C, polypeptide 9 19 L -> I (in allele CYP2C9*7). exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 Colorectal(252;0.0902) all cancers(201;6.93e-05) Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744) TCTCCTTTCACTCTGGAGACA 0.473000 5 119 3.59834e-05 3.78287e-05 1 1 0 CTD-2324F15.2 0 broad.mit.edu 37 5 6337066 6337067 + RNA DEL AC AC - TCGA-HT-8108-01A-11D-2395-08 TCGA-HT-8108-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83398327-b05a-4e54-ae4b-1cffc6bde4da 657f8664-082c-411b-92f1-2e5e82ad5bd5 g.chr5:6337066_6337067delAC ENST00000507444.1 - 0 143 NR_028351.1 acacatacatacacacacacac 0.475 4 7 --- --- --- --- HERC2P9 0 broad.mit.edu 37 15 28913366 28913367 + RNA INS - - T TCGA-HT-8108-01A-11D-2395-08 TCGA-HT-8108-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83398327-b05a-4e54-ae4b-1cffc6bde4da 657f8664-082c-411b-92f1-2e5e82ad5bd5 g.chr15:28913366_28913367insT ENST00000528584.1 + 0 1224 NR_036443.1 TTGAGTTCTCCTTTTTTTTTTT 0.307 2 4 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7578471 7578471 + Frame_Shift_Del DEL G G - rs137852790 TCGA-HT-8108-01A-11D-2395-08 TCGA-HT-8108-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83398327-b05a-4e54-ae4b-1cffc6bde4da 657f8664-082c-411b-92f1-2e5e82ad5bd5 g.chr17:7578471delG ENST00000420246.2 - 5 591 c.459delC c.(457-459)ccfs p.P153fs TP53_ENST00000455263.2_Frame_Shift_Del_p.P153fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.P153fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.P153fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.P153fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.P153fs NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 153 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. P -> A (in sporadic cancers; somatic mutation).|P -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in a sporadic cancer; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in a sporadic cancer; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.0?(8)|p.P153P(7)|p.T150fs*16(6)|p.?(5)|p.P152fs*14(5)|p.P153fs*26(2)|p.G154fs*27(2)|p.P153fs*22(2)|p.D148_T155delDSTPPPGT(1)|p.Q144_G154del11(1)|p.P151_V173del23(1)|p.P153_G154insX(1)|p.D148fs*23(1)|p.T150_P153delTPPP(1)|p.T18fs*16(1)|p.Q144fs*16(1)|p.S149fs*72(1)|p.T57fs*16(1)|p.P152fs*27(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CGCGGGTGCCGGGCGGGGGTG 0.612 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 70 28 --- --- --- --- ATRX 546 broad.mit.edu 37 X 76813062 76813063 + Frame_Shift_Ins INS - - AG TCGA-HT-8108-01A-11D-2395-08 TCGA-HT-8108-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83398327-b05a-4e54-ae4b-1cffc6bde4da 657f8664-082c-411b-92f1-2e5e82ad5bd5 g.chrX:76813062_76813063insAG ENST00000373344.5 - 30 6772_6773 c.6558_6559insCT c.(6556-6561)tcttcgfs p.S2187fs ATRX_ENST00000395603.3_Frame_Shift_Ins_p.S2149fs|ATRX_ENST00000480283.1_5'UTR NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 2187 Helicase C-terminal. DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.?(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) ACAACTCGAAAAGACAGTGACT 0.347 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 65 100 --- --- --- ---