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 FOXG1 2290 broad.mit.edu 37 14 29237034 29237034 + Silent SNP G G A TCGA-HT-7684-01A-11D-2253-08 TCGA-HT-7684-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a568f27-c888-41cc-8196-03e138badd58 e5c70770-2bcf-4654-8ed2-c33cd1e09326 g.chr14:29237034G>A ENST00000382535.3 + 2 918 c.549G>A c.(547-549)ccG>ccA p.P183P FOXG1_ENST00000313071.4_Silent_p.P183P P55316 FOXG1_HUMAN forkhead box G1 183 P -> PP (in Ref. 1; CAA52241). axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2) 43 LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575) GBM - Glioblastoma multiforme(265;0.00413) AGAAGCCGCCGTTCAGCTACA 0.637000 8 16 0 0 1 0 0 LYPD4 147719 broad.mit.edu 37 19 42341280 42341280 + Silent SNP T T G TCGA-HT-7684-01A-11D-2253-08 TCGA-HT-7684-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a568f27-c888-41cc-8196-03e138badd58 e5c70770-2bcf-4654-8ed2-c33cd1e09326 g.chr19:42341280T>G ENST00000330743.3 - 5 1889 c.678A>C c.(676-678)gcA>gcC p.A226A LYPD4_ENST00000601246.1_Silent_p.A191A|LYPD4_ENST00000343055.4_Silent_p.A191A NM_173506.4 NP_775777.3 Q6UWN0 LYPD4_HUMAN LY6/PLAUR domain containing 4 226 anchored to membrane|plasma membrane breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2) 12 GCCTGGAGGATGCTGCACCAA 0.493000 3 60 0 0 1 0 0 TRPC7 57113 broad.mit.edu 37 5 135561020 135561020 + Missense_Mutation SNP A A G TCGA-HT-7684-01A-11D-2253-08 TCGA-HT-7684-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a568f27-c888-41cc-8196-03e138badd58 e5c70770-2bcf-4654-8ed2-c33cd1e09326 g.chr5:135561020A>G ENST00000513104.1 - 10 2567 c.2285T>C c.(2284-2286)aTg>aCg p.M762T TRPC7_ENST00000426057.2_Missense_Mutation_p.M646T|TRPC7_ENST00000355180.3_Missense_Mutation_p.M701T NM_020389.2 NP_065122.1 Q9HCX4 TRPC7_HUMAN transient receptor potential cation channel, subfamily C, member 7 762 axon guidance|platelet activation integral to membrane|plasma membrane calcium channel activity|protein binding NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3) 46 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) AGAATTCCTCATGCCAGCCTG 0.453000 6 12 0 0 1 0 0 DIS3 22894 broad.mit.edu 37 13 73346337 73346337 + Missense_Mutation SNP T T C TCGA-HT-7684-01A-11D-2253-08 TCGA-HT-7684-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a568f27-c888-41cc-8196-03e138badd58 e5c70770-2bcf-4654-8ed2-c33cd1e09326 g.chr13:73346337T>C ENST00000377767.4 - 10 1563 c.1463A>G c.(1462-1464)gAt>gGt p.D488G DIS3_ENST00000545453.1_Missense_Mutation_p.D326G|DIS3_ENST00000377780.4_Missense_Mutation_p.D458G NM_014953.3 NP_055768.3 Q9Y2L1 RRP44_HUMAN DIS3 mitotic control homolog (S. cerevisiae) 488 CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing cytosol|exosome (RNase complex)|nucleolus|nucleoplasm 3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1) 35 Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195) GBM - Glioblastoma multiforme(99;0.000181) ATGTAGAGCATCGTCTATATC 0.363000 Multiple Myeloma(4;0.011) 15 23 0 0 1 0 0 TTYH2 94015 broad.mit.edu 37 17 72249349 72249349 + Silent SNP G G A TCGA-HT-7684-01A-11D-2253-08 TCGA-HT-7684-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a568f27-c888-41cc-8196-03e138badd58 e5c70770-2bcf-4654-8ed2-c33cd1e09326 g.chr17:72249349G>A ENST00000441391.2 + 6 1638 c.426G>A c.(424-426)caG>caA p.Q142Q TTYH2_ENST00000529107.1_Silent_p.Q442Q|TTYH2_ENST00000269346.4_Silent_p.Q463Q NM_052869.1 NP_443101.1 Q9BSA4 TTYH2_HUMAN tweety family member 2 463 chloride channel complex|plasma membrane chloride channel activity|protein binding breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1) 36 TGGGAAGTCAGACCAGCCTGC 0.647000 15 54 0 0 1 0 0 NOL8 55035 broad.mit.edu 37 9 95077012 95077012 + Missense_Mutation SNP T T C TCGA-HT-7684-01A-11D-2253-08 TCGA-HT-7684-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a568f27-c888-41cc-8196-03e138badd58 e5c70770-2bcf-4654-8ed2-c33cd1e09326 g.chr9:95077012T>C ENST00000545558.1 - 7 2387 c.1895A>G c.(1894-1896)cAt>cGt p.H632R NOL8_ENST00000535387.1_Missense_Mutation_p.H632R|NOL8_ENST00000542053.1_Missense_Mutation_p.H564R|NOL8_ENST00000442668.2_Missense_Mutation_p.H632R|NOL8_ENST00000358855.4_Missense_Mutation_p.H564R Q76FK4 NOL8_HUMAN nucleolar protein 8 632 DNA replication|positive regulation of cell growth nucleolus nucleotide binding|protein binding|RNA binding endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1) 16 CTTCTTTGCATGTTGGCATGG 0.453000 5 10 0 0 1 0 0 SETD2 29072 broad.mit.edu 37 3 47103767 47103767 + Nonsense_Mutation SNP G G C TCGA-HT-7684-01A-11D-2253-08 TCGA-HT-7684-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a568f27-c888-41cc-8196-03e138badd58 e5c70770-2bcf-4654-8ed2-c33cd1e09326 g.chr3:47103767G>C ENST00000409792.3 - 14 6221 c.6179C>G c.(6178-6180)tCa>tGa p.S2060* SETD2_ENST00000492397.1_5'UTR NM_014159.6 NP_054878.5 Q9BYW2 SETD2_HUMAN SET domain containing 2 2060 regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5) 141 Acute lymphoblastic leukemia(5;0.0169) BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844) TCTCTCTCTTGACCTATTAGG 0.463000 """N, F, S, Mis""" clear cell renal carcinoma 6 128 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132547141 132547141 + Silent SNP G G A TCGA-HT-7684-01A-11D-2253-08 TCGA-HT-7684-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a568f27-c888-41cc-8196-03e138badd58 e5c70770-2bcf-4654-8ed2-c33cd1e09326 g.chr12:132547141G>A ENST00000333577.4 + 48 8446 c.8337G>A c.(8335-8337)caG>caA p.Q2779Q EP400_ENST00000332482.4_Silent_p.Q2706Q|EP400_ENST00000389562.2_Silent_p.Q2742Q|EP400_ENST00000389561.2_Silent_p.Q2743Q|EP400_ENST00000330386.6_Silent_p.Q2662Q Q96L91 EP400_HUMAN E1A binding protein p400 2779 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2742Q(2) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcaacagcagcagcagc 0.597000 3 27 0 0 1 0 0 SERPING1 710 broad.mit.edu 37 11 57367766 57367766 + Missense_Mutation SNP G G A rs139035354 by1000genomes TCGA-HT-7684-01A-11D-2253-08 TCGA-HT-7684-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a568f27-c888-41cc-8196-03e138badd58 e5c70770-2bcf-4654-8ed2-c33cd1e09326 g.chr11:57367766G>A ENST00000403558.1 + 2 934 c.568G>A c.(568-570)Gcc>Acc p.A190T SERPING1_ENST00000378324.2_Missense_Mutation_p.A104T|SERPING1_ENST00000278407.4_Missense_Mutation_p.A156T|SERPING1_ENST00000340687.6_Missense_Mutation_p.A156T|SERPING1_ENST00000378323.4_Missense_Mutation_p.A161T NM_001032295.1 NP_001027466.1 P05155 IC1_HUMAN serpin peptidase inhibitor, clade G (C1 inhibitor), member 1 156 blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation extracellular space|platelet alpha granule lumen protein binding|serine-type endopeptidase inhibitor activity p.A156T(1) central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1) 27 GCTCTACCACGCCTTCTCAGC 0.542000 49 62 0 0 1 0 0 DST 667 broad.mit.edu 37 6 56483529 56483529 + Missense_Mutation SNP G G A TCGA-HT-7684-01A-11D-2253-08 TCGA-HT-7684-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a568f27-c888-41cc-8196-03e138badd58 e5c70770-2bcf-4654-8ed2-c33cd1e09326 g.chr6:56483529G>A ENST00000370765.6 - 23 5410 c.5303C>T c.(5302-5304)aCt>aTt p.T1768I DST_ENST00000370769.4_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000446842.2_Intron NM_001723.5 NP_001714.1 Q03001 DYST_HUMAN dystonin 1162 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) ATCATTTTCAGTGATGACTTT 0.358000 17 49 0 0 1 0 0 ANKAR 150709 broad.mit.edu 37 2 190585366 190585366 + Missense_Mutation SNP A A C TCGA-HT-7684-01A-11D-2253-08 TCGA-HT-7684-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a568f27-c888-41cc-8196-03e138badd58 e5c70770-2bcf-4654-8ed2-c33cd1e09326 g.chr2:190585366A>C ENST00000520309.1 + 12 2576 c.2488A>C c.(2488-2490)Aat>Cat p.N830H ANKAR_ENST00000313581.4_Missense_Mutation_p.N830H|ANKAR_ENST00000281412.6_Missense_Mutation_p.N594H|ANKAR_ENST00000438402.2_Missense_Mutation_p.N830H|ANKAR_ENST00000431575.2_Missense_Mutation_p.N759H NM_144708.3 NP_653309.3 Q7Z5J8 ANKAR_HUMAN ankyrin and armadillo repeat containing 830 integral to membrane binding breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2) 46 OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744) AAGCCTGATAAATCTATTGAA 0.284000 16 44 0 0 1 0 0 EVPL 2125 broad.mit.edu 37 17 74003681 74003681 + Missense_Mutation SNP C C T TCGA-HT-7684-01A-11D-2253-08 TCGA-HT-7684-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a568f27-c888-41cc-8196-03e138badd58 e5c70770-2bcf-4654-8ed2-c33cd1e09326 g.chr17:74003681C>T ENST00000301607.3 - 22 5858 c.5605G>A c.(5605-5607)Gtg>Atg p.V1869M EVPL_ENST00000586740.1_Missense_Mutation_p.V1891M NM_001988.2 NP_001979.2 Q92817 EVPL_HUMAN envoplakin 1869 Globular 2. keratinization|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural molecule activity breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 54 AGCAGGTCCACGATGCCCCCT 0.617000 4 45 0 0 1 0 0 EFTUD2 9343 broad.mit.edu 37 17 42931994 42931994 + Missense_Mutation SNP C C T TCGA-HT-7684-01A-11D-2253-08 TCGA-HT-7684-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a568f27-c888-41cc-8196-03e138badd58 e5c70770-2bcf-4654-8ed2-c33cd1e09326 g.chr17:42931994C>T ENST00000426333.2 - 22 2486 c.2189G>A c.(2188-2190)cGt>cAt p.R730H EFTUD2_ENST00000591382.1_Missense_Mutation_p.R730H|EFTUD2_ENST00000402521.3_Missense_Mutation_p.R695H|EFTUD2_ENST00000592576.1_Missense_Mutation_p.R720H NM_001142605.1|NM_001258354.1|NM_004247.3 NP_001136077.1|NP_001245283.1|NP_004238.3 Q15029 U5S1_HUMAN elongation factor Tu GTP binding domain containing 2 730 Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck GTP binding|GTPase activity|protein binding breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 32 Prostate(33;0.109) CCAGATGGAACGGGCAGCCAG 0.567000 17 29 0 0 1 0 0 SSPO 23145 broad.mit.edu 37 7 149482723 149482723 + RNA SNP C C G TCGA-HT-7684-01A-11D-2253-08 TCGA-HT-7684-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a568f27-c888-41cc-8196-03e138badd58 e5c70770-2bcf-4654-8ed2-c33cd1e09326 g.chr7:149482723C>G ENST00000378016.2 + 0 3139 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) GGCCAGTGGCCTATTCACAGT 0.627000 4 7 0 0 1 0 0 PCSK5 5125 broad.mit.edu 37 9 78790136 78790136 + Missense_Mutation SNP T T C rs62556589 TCGA-HT-7684-01A-11D-2253-08 TCGA-HT-7684-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a568f27-c888-41cc-8196-03e138badd58 e5c70770-2bcf-4654-8ed2-c33cd1e09326 g.chr9:78790136T>C ENST00000376767.3 + 14 2503 c.1991T>C c.(1990-1992)aTg>aCg p.M664T PCSK5_ENST00000376752.4_Intron|PCSK5_ENST00000545128.1_Intron Q92824 PCSK5_HUMAN proprotein convertase subtilisin/kexin type 5 0 CRM (Cys-rich motif). anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release extracellular space|Golgi lumen|stored secretory granule peptide binding|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 tggaatggaatgaaatggaat 0.423000 4 13 0 0 1 0 0 OR13D1 286365 broad.mit.edu 37 9 107456818 107456818 + Missense_Mutation SNP C C G TCGA-HT-7684-01A-11D-2253-08 TCGA-HT-7684-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a568f27-c888-41cc-8196-03e138badd58 e5c70770-2bcf-4654-8ed2-c33cd1e09326 g.chr9:107456818C>G ENST00000318763.5 + 1 159 c.116C>G c.(115-117)tCt>tGt p.S39C NM_001004484.1 NP_001004484.1 Q8NGV5 O13D1_HUMAN olfactory receptor, family 13, subfamily D, member 1 39 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2) 19 AGAAATTACTCTGCCATGACT 0.423000 7 24 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-HT-7684-01A-11D-2253-08 TCGA-HT-7684-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a568f27-c888-41cc-8196-03e138badd58 e5c70770-2bcf-4654-8ed2-c33cd1e09326 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 28 34 0 0 1 0 0 HCCS 3052 broad.mit.edu 37 X 11135492 11135492 + Missense_Mutation SNP T T C TCGA-HT-7684-01A-11D-2253-08 TCGA-HT-7684-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a568f27-c888-41cc-8196-03e138badd58 e5c70770-2bcf-4654-8ed2-c33cd1e09326 g.chrX:11135492T>C ENST00000321143.4 + 4 560 c.358T>C c.(358-360)Tac>Cac p.Y120H HCCS_ENST00000380762.4_Missense_Mutation_p.Y120H|HCCS_ENST00000380763.3_Missense_Mutation_p.Y120H NM_001122608.2|NM_001171991.2|NM_005333.4 NP_001116080.1|NP_001165462.1|NP_005324.3 P53701 CCHL_HUMAN holocytochrome c synthase 120 organ morphogenesis|oxidation-reduction process mitochondrial inner membrane holocytochrome-c synthase activity|metal ion binding kidney(1)|large_intestine(3)|lung(3) 7 AAAGTGGGTTTACCCTTCTGA 0.383000 37 21 0 0 1 0 0 C2orf16 84226 broad.mit.edu 37 2 27799838 27799838 + Silent SNP A A T TCGA-HT-7684-01A-11D-2253-08 TCGA-HT-7684-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a568f27-c888-41cc-8196-03e138badd58 e5c70770-2bcf-4654-8ed2-c33cd1e09326 g.chr2:27799838A>T ENST00000408964.2 + 1 450 c.399A>T c.(397-399)gcA>gcT p.A133A NM_032266.3 NP_115642.3 Q68DN1 CB016_HUMAN chromosome 2 open reading frame 16 133 breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1) 47 Acute lymphoblastic leukemia(172;0.155) CAAAATATGCAGAGATGATCC 0.383000 4 74 0 0 1 0 0 IQGAP1 8826 broad.mit.edu 37 15 91034589 91034589 + Nonsense_Mutation SNP C C T TCGA-HT-7684-01A-11D-2253-08 TCGA-HT-7684-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a568f27-c888-41cc-8196-03e138badd58 e5c70770-2bcf-4654-8ed2-c33cd1e09326 g.chr15:91034589C>T ENST00000268182.5 + 34 4397 c.4273C>T c.(4273-4275)Cag>Tag p.Q1425* IQGAP1_ENST00000560738.1_Nonsense_Mutation_p.Q853* NM_003870.3 NP_003861.1 P46940 IQGA1_HUMAN IQ motif containing GTPase activating protein 1 1425 C2. energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction actin filament|cytoplasm|midbody|nucleus|plasma membrane calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488) BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194) GAGAGCCATGCAGAGACGTGC 0.398000 4 23 0 0 1 0 0 SYNE2 23224 broad.mit.edu 37 14 64676802 64676802 + Missense_Mutation SNP A A G TCGA-HT-7684-01A-11D-2253-08 TCGA-HT-7684-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a568f27-c888-41cc-8196-03e138badd58 e5c70770-2bcf-4654-8ed2-c33cd1e09326 g.chr14:64676802A>G ENST00000357395.3 + 104 18982 c.7838A>G c.(7837-7839)aAc>aGc p.N2613S SYNE2_ENST00000344113.4_Missense_Mutation_p.N6228S|SYNE2_ENST00000554805.1_Missense_Mutation_p.N11S|SYNE2_ENST00000554584.1_Missense_Mutation_p.N6187S|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Missense_Mutation_p.N2613S|SYNE2_ENST00000358025.3_Missense_Mutation_p.N6228S|SYNE2_ENST00000555022.1_Missense_Mutation_p.N106S|SYNE2_ENST00000555002.1_Missense_Mutation_p.N2862S Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 6228 centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) CGCTGGGACAACCTTCAGAGG 0.622000 7 15 0 0 1 0 0 TBC1D2 55357 broad.mit.edu 37 9 100991314 100991314 + Missense_Mutation SNP G G A TCGA-HT-7684-01A-11D-2253-08 TCGA-HT-7684-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a568f27-c888-41cc-8196-03e138badd58 e5c70770-2bcf-4654-8ed2-c33cd1e09326 g.chr9:100991314G>A ENST00000375066.5 - 5 989 c.898C>T c.(898-900)Cgg>Tgg p.R300W TBC1D2_ENST00000493589.2_5'UTR|TBC1D2_ENST00000375064.1_Missense_Mutation_p.R300W|TBC1D2_ENST00000342112.5_Missense_Mutation_p.R82W NM_018421.3 NP_060891.3 Q9BYX2 TBD2A_HUMAN TBC1 domain family, member 2 300 Interaction with RAC1. cell junction|cytoplasmic membrane-bounded vesicle|nucleus Rab GTPase activator activity breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 24 Myeloproliferative disorder(762;0.0255) OV - Ovarian serous cystadenocarcinoma(323;2.55e-37) GTTCGGTTCCGTGTGATTCCT 0.522000 11 34 0 0 1 0 0 PTGS1 5742 broad.mit.edu 37 9 125154668 125154668 + Missense_Mutation SNP T T G TCGA-HT-7684-01A-11D-2253-08 TCGA-HT-7684-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a568f27-c888-41cc-8196-03e138badd58 e5c70770-2bcf-4654-8ed2-c33cd1e09326 g.chr9:125154668T>G ENST00000362012.2 + 11 1650 c.1645T>G c.(1645-1647)Ttt>Gtt p.F549V PTGS1_ENST00000373698.5_Missense_Mutation_p.F440V|PTGS1_ENST00000223423.4_Missense_Mutation_p.F512V|PTGS1_ENST00000540753.1_Missense_Mutation_p.F487V NM_000962.2|NM_001271164.1|NM_080591.1 NP_000953.2|NP_001258093.1|NP_542158.1 P23219 PGH1_HUMAN prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase) 549 cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 8 Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500) GCCGAGCACATTTGGCGGCGA 0.537000 20 53 0 0 1 0 0 RP11-248G5.8 0 broad.mit.edu 37 13 52864028 52864028 + RNA SNP C C T rs138483057 by1000genomes TCGA-HT-7684-01A-11D-2253-08 TCGA-HT-7684-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a568f27-c888-41cc-8196-03e138badd58 e5c70770-2bcf-4654-8ed2-c33cd1e09326 g.chr13:52864028C>T ENST00000451298.1 - 0 141 RP11-64P12.8_ENST00000606031.1_RNA TAGAATGATACTCCAAAGGAA 0.313000 3 22 0 0 1 0 0 NSUN5P1 0 broad.mit.edu 37 7 75045031 75045031 + RNA SNP C C T TCGA-HT-7684-01A-11D-2253-08 TCGA-HT-7684-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a568f27-c888-41cc-8196-03e138badd58 e5c70770-2bcf-4654-8ed2-c33cd1e09326 g.chr7:75045031C>T ENST00000393633.2 + 0 3842 large_intestine(1)|lung(1) 2 CTGCTGGATCCTTCCTGCAGT 0.587000 5 19 0 0 1 0 0 ALG6 29929 broad.mit.edu 37 1 63876858 63876858 + Missense_Mutation SNP T T C TCGA-HT-7684-01A-11D-2253-08 TCGA-HT-7684-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a568f27-c888-41cc-8196-03e138badd58 e5c70770-2bcf-4654-8ed2-c33cd1e09326 g.chr1:63876858T>C ENST00000371108.4 + 8 841 c.536T>C c.(535-537)cTt>cCt p.L179P ALG6_ENST00000263440.4_Missense_Mutation_p.L181P NM_013339.3 NP_037471.2 Q9Y672 ALG6_HUMAN ALG6, alpha-1,3-glucosyltransferase 179 dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 TGGGGTGTTCTTGGAATATCT 0.363000 40 109 0 0 1 0 0 SEC1P 0 broad.mit.edu 37 19 49183610 49183610 + RNA SNP G G A TCGA-HT-7684-01A-11D-2253-08 TCGA-HT-7684-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a568f27-c888-41cc-8196-03e138badd58 e5c70770-2bcf-4654-8ed2-c33cd1e09326 g.chr19:49183610G>A ENST00000430145.2 + 0 697 NR_004401.2 TGCCGGTGCTGCACAGCGCCA 0.667000 15 18 0 0 1 0 0 MEGT1 0 broad.mit.edu 37 6 31685399 31685399 + Missense_Mutation SNP G G A TCGA-HT-7684-01A-11D-2253-08 TCGA-HT-7684-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a568f27-c888-41cc-8196-03e138badd58 e5c70770-2bcf-4654-8ed2-c33cd1e09326 g.chr6:31685399G>A ENST00000503322.1 + 6 970 c.967G>A c.(967-969)Gcc>Acc p.A323T LY6G6F_ENST00000556581.1_Missense_Mutation_p.A323T|LY6G6D_ENST00000375825.3_Missense_Mutation_p.A74T CTGCGTCGCAGCCCATCATTG 0.577000 74 141 0 0 1 0 0 DLGAP4 22839 broad.mit.edu 37 20 35060961 35060961 + Missense_Mutation SNP G G T TCGA-HT-7684-01A-11D-2253-08 TCGA-HT-7684-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a568f27-c888-41cc-8196-03e138badd58 e5c70770-2bcf-4654-8ed2-c33cd1e09326 g.chr20:35060961G>T ENST00000373913.3 + 3 1321 c.841G>T c.(841-843)Ggg>Tgg p.G281W DLGAP4_ENST00000373907.2_Missense_Mutation_p.G281W|DLGAP4_ENST00000401952.2_Missense_Mutation_p.G281W|DLGAP4_ENST00000339266.5_Missense_Mutation_p.G281W Q9Y2H0 DLGP4_HUMAN discs, large (Drosophila) homolog-associated protein 4 281 cell-cell signaling membrane protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 37 Breast(12;0.0192) Myeloproliferative disorder(115;0.00878) CCCCAGCCTTGGGGTGGGCAC 0.632000 11 7 0.00010058 0.000102514 1 1 0 AKAP13 11214 broad.mit.edu 37 15 86287025 86287025 + Silent SNP G G A TCGA-HT-7684-01A-11D-2253-08 TCGA-HT-7684-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a568f27-c888-41cc-8196-03e138badd58 e5c70770-2bcf-4654-8ed2-c33cd1e09326 g.chr15:86287025G>A ENST00000394518.2 + 36 8456 c.8361G>A c.(8359-8361)aaG>aaA p.K2787K AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000361243.2_Silent_p.K2791K|AKAP13_ENST00000394510.2_Silent_p.K1032K NM_001270546.1|NM_007200.3 NP_001257475.1|NP_009131.2 Q12802 AKP13_HUMAN A kinase (PRKA) anchor protein 13 2787 Interaction with ESR1.|Poly-Lys. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane|membrane fraction|nucleus cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 98 AGAAAAAAAAGAAGAACAAAA 0.532000 5 27 0 0 1 0 0 CD36 948 broad.mit.edu 37 7 80286000 80286000 + Missense_Mutation SNP G G A TCGA-HT-7684-01A-11D-2253-08 TCGA-HT-7684-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a568f27-c888-41cc-8196-03e138badd58 e5c70770-2bcf-4654-8ed2-c33cd1e09326 g.chr7:80286000G>A ENST00000435819.1 + 7 949 c.265G>A c.(265-267)Ggt>Agt p.G89S CD36_ENST00000534394.1_Missense_Mutation_p.G13S|CD36_ENST00000447544.2_Missense_Mutation_p.G89S|CD36_ENST00000394788.3_Missense_Mutation_p.G89S|CD36_ENST00000538969.1_Missense_Mutation_p.G89S|CD36_ENST00000433696.2_Missense_Mutation_p.G89S|CD36_ENST00000544133.1_Missense_Mutation_p.G89S|CD36_ENST00000309881.7_Missense_Mutation_p.G89S|CD36_ENST00000432207.1_Missense_Mutation_p.G89S P16671 CD36_HUMAN CD36 molecule (thrombospondin receptor) 89 cell adhesion|cGMP-mediated signaling|cholesterol transport|lipid metabolic process|lipid storage|lipoprotein transport|low-density lipoprotein particle clearance|nitric oxide mediated signal transduction|plasma membrane long-chain fatty acid transport|platelet activation|platelet degranulation|positive regulation of cell-matrix adhesion|positive regulation of macrophage derived foam cell differentiation integral to plasma membrane|membrane fraction|platelet alpha granule membrane lipid binding|low-density lipoprotein receptor activity|thrombospondin receptor activity|transforming growth factor beta binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(1)|lung(6)|ovary(1) 21 TAAGCAAAGAGGTCCTTATAC 0.398000 3 70 0 0 1 0 0 MS4A14 84689 broad.mit.edu 37 11 60183353 60183353 + Silent SNP T T C TCGA-HT-7684-01A-11D-2253-08 TCGA-HT-7684-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a568f27-c888-41cc-8196-03e138badd58 e5c70770-2bcf-4654-8ed2-c33cd1e09326 g.chr11:60183353T>C ENST00000300187.6 + 5 1189 c.912T>C c.(910-912)ttT>ttC p.F304F MS4A14_ENST00000531783.1_Silent_p.F337F|MS4A14_ENST00000531787.1_Silent_p.F192F|MS4A14_ENST00000395005.2_Silent_p.F287F|MS4A14_ENST00000395001.1_3'UTR NM_032597.4 NP_115986.3 Q96JA4 M4A14_HUMAN membrane-spanning 4-domains, subfamily A, member 14 304 integral to membrane receptor activity autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 62 TCCAAGTTTTTCCATCCCATT 0.423000 23 26 0 0 1 0 0 DCLK1 9201 broad.mit.edu 37 13 36686247 36686247 + Missense_Mutation SNP C C T TCGA-HT-7684-01A-11D-2253-08 TCGA-HT-7684-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a568f27-c888-41cc-8196-03e138badd58 e5c70770-2bcf-4654-8ed2-c33cd1e09326 g.chr13:36686247C>T ENST00000255448.4 - 3 693 c.482G>A c.(481-483)cGg>cAg p.R161Q DCLK1_ENST00000379892.4_Missense_Mutation_p.R161Q|DCLK1_ENST00000360631.3_Missense_Mutation_p.R161Q NM_004734.4 NP_004725.1 O15075 DCLK1_HUMAN doublecortin-like kinase 1 161 cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus integral to plasma membrane ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1) 64 Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638) AGACACTGCCCGAGAAGCCGA 0.522000 13 36 0 0 1 0 0 TMTC1 83857 broad.mit.edu 37 12 29659825 29659825 + Missense_Mutation SNP C C T rs35279918 TCGA-HT-7684-01A-11D-2253-08 TCGA-HT-7684-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a568f27-c888-41cc-8196-03e138badd58 e5c70770-2bcf-4654-8ed2-c33cd1e09326 g.chr12:29659825C>T ENST00000256062.5 - 18 2752 c.2279G>A c.(2278-2280)cGc>cAc p.R760H TMTC1_ENST00000552618.1_Missense_Mutation_p.R892H|TMTC1_ENST00000539277.1_Missense_Mutation_p.R868H|TMTC1_ENST00000551659.1_Missense_Mutation_p.R930H|TMTC1_ENST00000319685.8_5'UTR NM_175861.3 NP_787057.2 Q8IUR5 TMTC1_HUMAN transmembrane and tetratricopeptide repeat containing 1 868 integral to membrane binding breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032) TTTTTCTAGGCGATCCAATTT 0.453000 25 59 0 0 1 0 0 MYCBP2 23077 broad.mit.edu 37 13 77807397 77807397 + Splice_Site SNP G G C TCGA-HT-7684-01A-11D-2253-08 TCGA-HT-7684-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a568f27-c888-41cc-8196-03e138badd58 e5c70770-2bcf-4654-8ed2-c33cd1e09326 g.chr13:77807397G>C ENST00000407578.2 - 18 2897 c.2629_splice c.e18-1 p.G877_splice MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000544440.2_Splice_Site_p.G839_splice|MYCBP2_ENST00000357337.6_Splice_Site_p.G839_splice NM_015057.4 NP_055872.4 O75592 MYCB2_HUMAN MYC binding protein 2, E3 ubiquitin protein ligase 839 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) ATACAAGGGGGCCTGAGGAGA 0.363000 3 31 0 0 1 0 0 SLC9C1 285335 broad.mit.edu 37 3 111887770 111887770 + Missense_Mutation SNP C C T TCGA-HT-7684-01A-11D-2253-08 TCGA-HT-7684-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a568f27-c888-41cc-8196-03e138badd58 e5c70770-2bcf-4654-8ed2-c33cd1e09326 g.chr3:111887770C>T ENST00000305815.5 - 25 3443 c.3191G>A c.(3190-3192)cGa>cAa p.R1064Q SLC9C1_ENST00000487372.1_Missense_Mutation_p.R1016Q NM_183061.1 NP_898884.1 Q4G0N8 S9A10_HUMAN solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1 1064 cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis cilium|flagellar membrane|integral to membrane solute:hydrogen antiporter activity p.R1064Q(1) ATAAGTTTTTCGTAACAGACA 0.323000 19 48 0 0 1 0 0 ISM2 145501 broad.mit.edu 37 14 77942239 77942239 + Missense_Mutation SNP G G A TCGA-HT-7684-01A-11D-2253-08 TCGA-HT-7684-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a568f27-c888-41cc-8196-03e138badd58 e5c70770-2bcf-4654-8ed2-c33cd1e09326 g.chr14:77942239G>A ENST00000393684.3 - 8 1542 c.1151C>T c.(1150-1152)gCg>gTg p.A384V ISM2_ENST00000429906.1_Missense_Mutation_p.A391V|ISM2_ENST00000412904.1_Missense_Mutation_p.A391V|ISM2_ENST00000493585.1_3'UTR|ISM2_ENST00000342219.4_Missense_Mutation_p.A472V Q6H9L7 ISM2_HUMAN isthmin 2 472 extracellular region endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1) 21 GCAGAAGCGCGCCGTGGGCTG 0.677000 7 22 0 0 1 0 0 MUSK 4593 broad.mit.edu 37 9 113562782 113562782 + Missense_Mutation SNP G G C TCGA-HT-7684-01A-11D-2253-08 TCGA-HT-7684-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a568f27-c888-41cc-8196-03e138badd58 e5c70770-2bcf-4654-8ed2-c33cd1e09326 g.chr9:113562782G>C ENST00000416899.2 + 13 2226 c.2100G>C c.(2098-2100)caG>caC p.Q700H MUSK_ENST00000374448.4_Missense_Mutation_p.Q708H|MUSK_ENST00000189978.5_Missense_Mutation_p.Q708H O15146 MUSK_HUMAN muscle, skeletal, receptor tyrosine kinase 708 Protein kinase. transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 49 TTGCCAGGCAGGTGGCAGCTG 0.567000 28 94 0 0 1 0 0 LRP2 4036 broad.mit.edu 37 2 170038748 170038748 + Silent SNP C C T TCGA-HT-7684-01A-11D-2253-08 TCGA-HT-7684-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a568f27-c888-41cc-8196-03e138badd58 e5c70770-2bcf-4654-8ed2-c33cd1e09326 g.chr2:170038748C>T ENST00000263816.3 - 51 10212 c.9927G>A c.(9925-9927)caG>caA p.Q3309Q LRP2_ENST00000461418.1_5'UTR NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 3309 hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) CCACACAGTGCTGGGCCAGCA 0.532000 31 69 0 0 1 0 0 KIF13B 23303 broad.mit.edu 37 8 29039519 29039519 + Missense_Mutation SNP G G A TCGA-HT-7684-01A-11D-2253-08 TCGA-HT-7684-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a568f27-c888-41cc-8196-03e138badd58 e5c70770-2bcf-4654-8ed2-c33cd1e09326 g.chr8:29039519G>A ENST00000524189.1 - 7 540 c.502C>T c.(502-504)Cgt>Tgt p.R168C KIF13B_ENST00000521515.1_Missense_Mutation_p.R168C NM_015254.3 NP_056069.2 Q9NQT8 KI13B_HUMAN kinesin family member 13B 168 Kinesin-motor. microtubule-based movement|protein targeting|signal transduction|T cell activation cytoplasm|microtubule ATP binding|microtubule motor activity|protein kinase binding endometrium(6)|kidney(1)|lung(20)|urinary_tract(1) 28 Ovarian(32;0.000536) KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181) AACGTCTGACGGCTTCTGTTC 0.373000 3 39 0 0 1 0 0 EEF1A1 1915 broad.mit.edu 37 6 74229668 74229668 + Missense_Mutation SNP T T C TCGA-HT-7684-01A-11D-2253-08 TCGA-HT-7684-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a568f27-c888-41cc-8196-03e138badd58 e5c70770-2bcf-4654-8ed2-c33cd1e09326 g.chr6:74229668T>C ENST00000316292.9 - 1 1073 c.82A>G c.(82-84)Atc>Gtc p.I28V EEF1A1_ENST00000309268.6_Missense_Mutation_p.I28V|EEF1A1_ENST00000331523.2_Missense_Mutation_p.I28V NM_001402.5 NP_001393.1 P68104 EF1A1_HUMAN eukaryotic translation elongation factor 1 alpha 1 28 cytosol|eukaryotic translation elongation factor 1 complex GTP binding|GTPase activity|protein binding|translation elongation factor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3) 18 CATTTATAGATCAGATGGCCA 0.413000 13 36 0 0 1 0 0 CCDC54 84692 broad.mit.edu 37 3 107097101 107097101 + Missense_Mutation SNP C C T TCGA-HT-7684-01A-11D-2253-08 TCGA-HT-7684-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a568f27-c888-41cc-8196-03e138badd58 e5c70770-2bcf-4654-8ed2-c33cd1e09326 g.chr3:107097101C>T ENST00000261058.1 + 1 914 c.667C>T c.(667-669)Cgt>Tgt p.R223C NM_032600.2 NP_115989.1 Q8NEL0 CCD54_HUMAN coiled-coil domain containing 54 223 NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 19 TCTGAAGAAACGTAACCATCA 0.378000 27 36 0 0 1 0 0 CHORDC1 26973 broad.mit.edu 37 11 89947220 89947220 + Missense_Mutation SNP C C T TCGA-HT-7684-01A-11D-2253-08 TCGA-HT-7684-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a568f27-c888-41cc-8196-03e138badd58 e5c70770-2bcf-4654-8ed2-c33cd1e09326 g.chr11:89947220C>T ENST00000320585.6 - 4 704 c.295G>A c.(295-297)Gcc>Acc p.A99T CHORDC1_ENST00000530765.1_Missense_Mutation_p.A99T|CHORDC1_ENST00000457199.2_Missense_Mutation_p.A80T NM_012124.2 NP_036256.2 Q9UHD1 CHRD1_HUMAN cysteine and histidine-rich domain (CHORD) containing 1 99 Interaction with HSP90AA1 and HSP90AB1 (By similarity). chaperone-mediated protein folding|regulation of response to stress|response to stress Hsp90 protein binding|identical protein binding endometrium(2)|large_intestine(2)|liver(1)|lung(6) 11 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.00915) GGCTTAGGGGCTTGAATGATG 0.393000 5 104 0 0 1 0 0 C3 718 broad.mit.edu 37 19 6712560 6712560 + Missense_Mutation SNP T T C TCGA-HT-7684-01A-11D-2253-08 TCGA-HT-7684-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a568f27-c888-41cc-8196-03e138badd58 e5c70770-2bcf-4654-8ed2-c33cd1e09326 g.chr19:6712560T>C ENST00000245907.6 - 10 1170 c.1078A>G c.(1078-1080)Aca>Gca p.T360A NM_000064.2 NP_000055.2 P01024 CO3_HUMAN complement component 3 360 complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3) 72 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) TACTTGGGTGTCTTGGTGAAG 0.622000 13 171 0 0 1 0 0 KLHL28 54813 broad.mit.edu 37 14 45415078 45415078 + Frame_Shift_Del DEL A A - TCGA-HT-7684-01A-11D-2253-08 TCGA-HT-7684-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a568f27-c888-41cc-8196-03e138badd58 e5c70770-2bcf-4654-8ed2-c33cd1e09326 g.chr14:45415078delA ENST00000396128.4 - 2 173 c.54delT c.(52-54)tcfs p.S18fs KLHL28_ENST00000355081.2_Frame_Shift_Del_p.S32fs NM_017658.3 NP_060128.2 Q9NXS3 KLH28_HUMAN kelch-like family member 28 18 breast(2)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 GAAGTTGTTCAGAATGCAAGT 0.403 21 60 --- --- --- --- USP32 84669 broad.mit.edu 37 17 58378974 58378975 + Frame_Shift_Del DEL TC TC - TCGA-HT-7684-01A-11D-2253-08 TCGA-HT-7684-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a568f27-c888-41cc-8196-03e138badd58 e5c70770-2bcf-4654-8ed2-c33cd1e09326 g.chr17:58378974_58378975delTC ENST00000300896.4 - 3 471_472 c.277_278delGA c.(277-279)afs p.E94fs USP32_ENST00000393003.3_Frame_Shift_Del_p.E94fs|USP32_ENST00000586881.1_5'UTR NM_032582.3 NP_115971.2 Q8NFA0 UBP32_HUMAN ubiquitin specific peptidase 32 94 EF-hand 1. protein deubiquitination|ubiquitin-dependent protein catabolic process Golgi apparatus|membrane calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1) 62 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198) TGCTTTCTCTTCATCTTTGCCT 0.332 8 22 --- --- --- --- RP4-738P15.1 0 broad.mit.edu 37 20 25128040 25128040 + RNA DEL C C - TCGA-HT-7684-01A-11D-2253-08 TCGA-HT-7684-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a568f27-c888-41cc-8196-03e138badd58 e5c70770-2bcf-4654-8ed2-c33cd1e09326 g.chr20:25128040delC ENST00000454676.1 - 0 834 NR_027091.1|NR_027092.1|NR_027093.1 tgcacccagtcctacccatcg 0.547 2 4 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11085863 11085864 + RNA INS - - C TCGA-HT-7684-01A-11D-2253-08 TCGA-HT-7684-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a568f27-c888-41cc-8196-03e138badd58 e5c70770-2bcf-4654-8ed2-c33cd1e09326 g.chr21:11085863_11085864insC ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) catcaccaccaccaccatcacc 0.579 4 4 --- --- --- --- NUDT11 0 broad.mit.edu 37 X 51239296 51239309 + Translation_Start_Site DEL TCCTCGAGGCAGCC TCCTCGAGGCAGCC - rs78182391 TCGA-HT-7684-01A-11D-2253-08 TCGA-HT-7684-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a568f27-c888-41cc-8196-03e138badd58 e5c70770-2bcf-4654-8ed2-c33cd1e09326 g.chrX:51239296_51239309delTCCTCGAGGCAGCC ENST00000375992.3 - 0 139_152 NM_018159.3 NP_060629.2 Q96G61 NUD11_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 11 cytoplasm diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding p.?(5) breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2) 9 Ovarian(276;0.236) TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC 0.692 HNSCC(48;0.14) 2 4 --- --- --- ---