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 TXNRD1 7296 broad.mit.edu 37 12 104712772 104712772 + Missense_Mutation SNP G G A TCGA-ER-A196-01A-11D-A197-08 TCGA-ER-A196-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0b4e60a-7023-429a-89c4-2e6782a64a9b 42380b0d-4a82-4698-953c-6277122a00c6 g.chr12:104712772G>A ENST00000526691.1 + 6 974 c.518G>A c.(517-519)cGg>cAg p.R173Q TXNRD1_ENST00000378070.4_Missense_Mutation_p.R220Q|TXNRD1_ENST00000354940.6_Missense_Mutation_p.R121Q|TXNRD1_ENST00000540716.1_Missense_Mutation_p.R83Q|TXNRD1_ENST00000529546.1_Missense_Mutation_p.R83Q|TXNRD1_ENST00000526950.1_Missense_Mutation_p.R190Q|TXNRD1_ENST00000526390.1_Missense_Mutation_p.R165Q|TXNRD1_ENST00000525566.1_Missense_Mutation_p.R271Q|TXNRD1_ENST00000524698.1_Missense_Mutation_p.R121Q|TXNRD1_ENST00000503506.2_Missense_Mutation_p.R121Q|TXNRD1_ENST00000429002.2_Missense_Mutation_p.R271Q|TXNRD1_ENST00000427956.1_Missense_Mutation_p.R236Q|TXNRD1_ENST00000397736.2_Missense_Mutation_p.R165Q|TXNRD1_ENST00000542918.1_Missense_Mutation_p.R171Q|TXNRD1_ENST00000388854.3_Missense_Mutation_p.R173Q NM_001261445.1|NM_003330.3 NP_001248374.1|NP_003321.3 Q16881 TRXR1_HUMAN thioredoxin reductase 1 271 cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport cytosol|nucleolus electron carrier activity|flavin adenine dinucleotide binding|NADP binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1) 16 GTAGCTCTGCGGGAGAAAAAA 0.383000 7 64 0 0 0.000157383 0 0 GALNT15 117248 broad.mit.edu 37 3 16237310 16237310 + Missense_Mutation SNP G G A TCGA-ER-A196-01A-11D-A197-08 TCGA-ER-A196-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0b4e60a-7023-429a-89c4-2e6782a64a9b 42380b0d-4a82-4698-953c-6277122a00c6 g.chr3:16237310G>A ENST00000339732.5 + 2 1086 c.583G>A c.(583-585)Gtc>Atc p.V195I GALNT15_ENST00000437509.1_Missense_Mutation_p.V195I NM_054110.4 NP_473451.3 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15 CACAGCCAGCGTCATCCTCTG 0.587000 5 51 0 0 1.23904e-05 0 0 LPIN2 9663 broad.mit.edu 37 18 2960762 2960762 + Missense_Mutation SNP G G C TCGA-ER-A196-01A-11D-A197-08 TCGA-ER-A196-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0b4e60a-7023-429a-89c4-2e6782a64a9b 42380b0d-4a82-4698-953c-6277122a00c6 g.chr18:2960762G>C ENST00000261596.4 - 2 315 c.77C>G c.(76-78)aCc>aGc p.T26S NM_014646.2 NP_055461.1 Q92539 LPIN2_HUMAN lipin 2 26 N-LIP. fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process cytosol|endoplasmic reticulum membrane|nucleus phosphatidate phosphatase activity|transcription coactivator activity autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 29 READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156) CCCAGAGAGGGTGGCCTGGTT 0.493000 8 41 0 0 3.86212e-05 0 0 TLL1 7092 broad.mit.edu 37 4 166981216 166981216 + Missense_Mutation SNP C C T TCGA-ER-A196-01A-11D-A197-08 TCGA-ER-A196-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0b4e60a-7023-429a-89c4-2e6782a64a9b 42380b0d-4a82-4698-953c-6277122a00c6 g.chr4:166981216C>T ENST00000061240.2 + 15 2530 c.1883C>T c.(1882-1884)aCc>aTc p.T628I TLL1_ENST00000507499.1_Missense_Mutation_p.T651I NM_012464.4 NP_036596.3 O43897 TLL1_HUMAN tolloid-like 1 628 CUB 3. cell differentiation|proteolysis|skeletal system development extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 all_hematologic(180;0.221) Melanoma(52;0.0315)|Prostate(90;0.0405) GBM - Glioblastoma multiforme(119;0.103) CTTAACGGCACCATAACCACC 0.463000 6 45 0 0 3.59834e-05 0 0 STRIP1 85369 broad.mit.edu 37 1 110584240 110584240 + Missense_Mutation SNP C C T TCGA-ER-A196-01A-11D-A197-08 TCGA-ER-A196-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0b4e60a-7023-429a-89c4-2e6782a64a9b 42380b0d-4a82-4698-953c-6277122a00c6 g.chr1:110584240C>T ENST00000369795.3 + 7 755 c.733C>T c.(733-735)Cgg>Tgg p.R245W STRIP1_ENST00000369796.1_Missense_Mutation_p.R150W NM_033088.2 NP_149079.2 striatin interacting protein 1 GAGGACCATGCGGCAGACCTT 0.592000 7 65 0 0 0.000274275 0 0 ZNF804B 219578 broad.mit.edu 37 7 88964944 88964944 + Missense_Mutation SNP T T C TCGA-ER-A196-01A-11D-A197-08 TCGA-ER-A196-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0b4e60a-7023-429a-89c4-2e6782a64a9b 42380b0d-4a82-4698-953c-6277122a00c6 g.chr7:88964944T>C ENST00000333190.4 + 4 3257 c.2648T>C c.(2647-2649)cTg>cCg p.L883P NM_181646.2 NP_857597.1 A4D1E1 Z804B_HUMAN zinc finger protein 804B 883 intracellular zinc ion binding NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9) 144 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) ATTTGTGATCTGGGAAAAGTC 0.433000 HNSCC(36;0.09) 7 44 0 0 8.12818e-05 0 0 DSG3 1830 broad.mit.edu 37 18 29041337 29041337 + Missense_Mutation SNP G G A TCGA-ER-A196-01A-11D-A197-08 TCGA-ER-A196-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0b4e60a-7023-429a-89c4-2e6782a64a9b 42380b0d-4a82-4698-953c-6277122a00c6 g.chr18:29041337G>A ENST00000257189.4 + 8 1044 c.961G>A c.(961-963)Gat>Aat p.D321N NM_001944.2 NP_001935.2 P32926 DSG3_HUMAN desmoglein 3 321 Cadherin 3. cellular component disassembly involved in apoptosis|homophilic cell adhesion cytosol|desmosome|integral to membrane calcium ion binding breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(10;0.00504) AATACAAACTGATCCTAGAAC 0.343000 8 52 0 0 3.86212e-05 0 0 GORASP1 64689 broad.mit.edu 37 3 39144332 39144332 + Missense_Mutation SNP T T C TCGA-ER-A196-01A-11D-A197-08 TCGA-ER-A196-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0b4e60a-7023-429a-89c4-2e6782a64a9b 42380b0d-4a82-4698-953c-6277122a00c6 g.chr3:39144332T>C ENST00000319283.3 - 3 1006 c.185A>G c.(184-186)aAt>aGt p.N62S GORASP1_ENST00000479927.1_Intron|GORASP1_ENST00000422110.2_Intron NM_031899.2 NP_114105.1 Q9BQQ3 GORS1_HUMAN golgi reassembly stacking protein 1, 65kDa 62 PDZ. mitotic prophase|protein transport cytosol|Golgi apparatus|membrane central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(1)|ovary(3)|urinary_tract(1) 14 KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653) CTTCTCCACATTGGCTTTCAG 0.592000 14 141 0 0 3.45872e-05 0 0 IGSF9 57549 broad.mit.edu 37 1 159900501 159900501 + Silent SNP G G A TCGA-ER-A196-01A-11D-A197-08 TCGA-ER-A196-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0b4e60a-7023-429a-89c4-2e6782a64a9b 42380b0d-4a82-4698-953c-6277122a00c6 g.chr1:159900501G>A ENST00000368094.1 - 14 1991 c.1794C>T c.(1792-1794)atC>atT p.I598I IGSF9_ENST00000493195.1_5'UTR|IGSF9_ENST00000361509.3_Silent_p.I582I NM_001135050.1 NP_001128522.1 Q9P2J2 TUTLA_HUMAN immunoglobulin superfamily, member 9 598 Fibronectin type-III 1. cell junction|integral to membrane|synapse p.I582I(1) central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_hematologic(112;0.0597) Breast(1374;0.000126) BRCA - Breast invasive adenocarcinoma(70;0.111) CAGACAAGACGATTTCGCTGA 0.607000 7 53 0 0 8.12818e-05 0 0 OR5T3 390154 broad.mit.edu 37 11 56020308 56020308 + Missense_Mutation SNP G G C TCGA-ER-A196-01A-11D-A197-08 TCGA-ER-A196-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0b4e60a-7023-429a-89c4-2e6782a64a9b 42380b0d-4a82-4698-953c-6277122a00c6 g.chr11:56020308G>C ENST00000303059.3 + 1 633 c.633G>C c.(631-633)atG>atC p.M211I NM_001004747.1 NP_001004747.1 Q8NGG3 OR5T3_HUMAN olfactory receptor, family 5, subfamily T, member 3 211 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 39 Esophageal squamous(21;0.00448) TTTGTGATATGCCTCCTCTCC 0.413000 23 190 0 0 4.16121e-05 0 0 NUP62 23636 broad.mit.edu 37 19 50412893 50412893 + Missense_Mutation SNP C C A TCGA-ER-A196-01A-11D-A197-08 TCGA-ER-A196-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0b4e60a-7023-429a-89c4-2e6782a64a9b 42380b0d-4a82-4698-953c-6277122a00c6 g.chr19:50412893C>A ENST00000596217.1 - 2 2059 c.172G>T c.(172-174)Ggc>Tgc p.G58C NUP62_ENST00000597723.1_Missense_Mutation_p.G58C|CTC-326K19.6_ENST00000451973.1_3'UTR|NUP62_ENST00000597029.1_Missense_Mutation_p.G58C|NUP62_ENST00000352066.3_Missense_Mutation_p.G58C|IL4I1_ENST00000595948.1_Intron|NUP62_ENST00000422090.2_Missense_Mutation_p.G58C|IL4I1_ENST00000341114.3_Intron|NUP62_ENST00000413454.1_Missense_Mutation_p.G58C P37198 NUP62_HUMAN nucleoporin 62kDa 58 15 X 9 AA approximate repeats.|Thr-rich. carbohydrate metabolic process|cell death|cell surface receptor linked signaling pathway|glucose transport|hormone-mediated signaling pathway|mRNA transport|negative regulation of apoptosis|negative regulation of cell proliferation|nucleocytoplasmic transport|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|protein transport|regulation of glucose transport|transcription, DNA-dependent|transmembrane transport|viral reproduction cytoplasm|nuclear membrane|nuclear pore|nucleocytoplasmic shuttling complex|ribonucleoprotein complex|spindle pole chromatin binding|protein serine/threonine kinase activity|receptor signaling complex scaffold activity|SH2 domain binding|structural constituent of nuclear pore|thyroid hormone receptor binding|ubiquitin binding breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2) 19 all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481) GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177) GAGAACAGGCCGGTGGAAGGG 0.547000 17 148 1.2644e-06 8.54085e-05 0.000175454 1 0 ATP9A 10079 broad.mit.edu 37 20 50235227 50235227 + Missense_Mutation SNP C C A TCGA-ER-A196-01A-11D-A197-08 TCGA-ER-A196-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0b4e60a-7023-429a-89c4-2e6782a64a9b 42380b0d-4a82-4698-953c-6277122a00c6 g.chr20:50235227C>A ENST00000338821.5 - 21 2588 c.2324G>T c.(2323-2325)cGc>cTc p.R775L ATP9A_ENST00000311637.5_Missense_Mutation_p.R639L|ATP9A_ENST00000402822.1_Missense_Mutation_p.R654L NM_006045.1 NP_006036.1 O75110 ATP9A_HUMAN ATPase, class II, type 9A 775 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 CTTGCCCGTGCGCTCCTGAAG 0.647000 6 132 2.7689e-08 1.93269e-06 8.12818e-05 1 0 SLC17A6 57084 broad.mit.edu 37 11 22391731 22391731 + Silent SNP C C T TCGA-ER-A196-01A-11D-A197-08 TCGA-ER-A196-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0b4e60a-7023-429a-89c4-2e6782a64a9b 42380b0d-4a82-4698-953c-6277122a00c6 g.chr11:22391731C>T ENST00000263160.3 + 8 1475 c.1038C>T c.(1036-1038)agC>agT p.S346S NM_020346.2 NP_065079.1 Q9P2U8 VGLU2_HUMAN solute carrier family 17 (vesicular glutamate transporter), member 6 346 sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3) 50 TTGAAATTAGCAAGGTATGTA 0.279000 6 52 0 0 0.000274275 0 0 NONO 4841 broad.mit.edu 37 X 70514152 70514152 + Missense_Mutation SNP C C T TCGA-ER-A196-01A-11D-A197-08 TCGA-ER-A196-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0b4e60a-7023-429a-89c4-2e6782a64a9b 42380b0d-4a82-4698-953c-6277122a00c6 g.chrX:70514152C>T ENST00000535149.1 + 3 800 c.157C>T c.(157-159)Cgc>Tgc p.R53C NONO_ENST00000490044.1_3'UTR|NONO_ENST00000276079.8_Missense_Mutation_p.R142C|NONO_ENST00000373841.1_Missense_Mutation_p.R142C|NONO_ENST00000373856.3_Missense_Mutation_p.R142C NM_001145410.1 NP_001138882.1 Q15233 NONO_HUMAN non-POU domain containing, octamer-binding 142 DNA recombination|DNA repair|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent nuclear matrix|paraspeckles DNA binding|identical protein binding|nucleotide binding|RNA binding NONO/TFE3(2) endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1) 19 Renal(35;0.156) GCTGCGTGTGCGCTTTGCCTG 0.507000 T TFE3 papillary renal cancer 9 77 0 0 2.17888e-05 0 0 TTN 7273 broad.mit.edu 37 2 179504471 179504471 + Missense_Mutation SNP G G A TCGA-ER-A196-01A-11D-A197-08 TCGA-ER-A196-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0b4e60a-7023-429a-89c4-2e6782a64a9b 42380b0d-4a82-4698-953c-6277122a00c6 g.chr2:179504471G>A ENST00000589042.1 - 223 41055 c.40831C>T c.(40831-40833)Ccc>Tcc p.P13611S TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P4738S|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000418062.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P4671S|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P11970S|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P11043S|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P4546S NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 11970 Ig-like 92. 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) GCAGCGATGGGGGTTGGTTCA 0.403000 7 40 0 0 2.17888e-05 0 0 USP54 159195 broad.mit.edu 37 10 75302825 75302825 + Missense_Mutation SNP G G A TCGA-ER-A196-01A-11D-A197-08 TCGA-ER-A196-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0b4e60a-7023-429a-89c4-2e6782a64a9b 42380b0d-4a82-4698-953c-6277122a00c6 g.chr10:75302825G>A ENST00000339859.4 - 5 540 c.440C>T c.(439-441)gCc>gTc p.A147V USP54_ENST00000497106.1_5'UTR|USP54_ENST00000408019.1_Missense_Mutation_p.A147V|USP54_ENST00000319786.7_Missense_Mutation_p.A147V|USP54_ENST00000428547.1_Intron|USP54_ENST00000394811.2_5'UTR Q70EL1 UBP54_HUMAN ubiquitin specific peptidase 54 147 ubiquitin-dependent protein catabolic process protein binding|ubiquitin thiolesterase activity p.A147V(1) breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1) 30 Prostate(51;0.0112) GCAGTGTTGGGCAGTACATAT 0.388000 11 85 0 0 2.31682e-05 0 0 PARP14 54625 broad.mit.edu 37 3 122419866 122419866 + Missense_Mutation SNP C C G TCGA-ER-A196-01A-11D-A197-08 TCGA-ER-A196-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0b4e60a-7023-429a-89c4-2e6782a64a9b 42380b0d-4a82-4698-953c-6277122a00c6 g.chr3:122419866C>G ENST00000474629.2 + 6 2731 c.2465C>G c.(2464-2466)gCa>gGa p.A822G NM_017554.2 NP_060024.2 Q460N5 PAR14_HUMAN poly (ADP-ribose) polymerase family, member 14 822 Macro 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane NAD+ ADP-ribosyltransferase activity NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 50 GBM - Glioblastoma multiforme(114;0.0531) GTGGTGAATGCATCTAATGAG 0.572000 11 62 0 0 6.40141e-05 0 0 BTN3A3 10384 broad.mit.edu 37 6 26444257 26444257 + Missense_Mutation SNP A A C TCGA-ER-A196-01A-11D-A197-08 TCGA-ER-A196-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0b4e60a-7023-429a-89c4-2e6782a64a9b 42380b0d-4a82-4698-953c-6277122a00c6 g.chr6:26444257A>C ENST00000244519.2 + 4 401 c.158A>C c.(157-159)cAc>cCc p.H53P BTN3A3_ENST00000361232.3_Missense_Mutation_p.H11P|BTN3A3_ENST00000339789.4_Missense_Mutation_p.H11P NM_006994.4 NP_008925.1 O00478 BT3A3_HUMAN butyrophilin, subfamily 3, member A3 53 Ig-like V-type 1. integral to membrane cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 30 CTGCCCTGTCACCTGTTCCCG 0.567000 17 114 0 0 9.7654e-05 0 0 FAM211B 388886 broad.mit.edu 37 22 24982184 24982184 + Silent SNP C C T TCGA-ER-A196-01A-11D-A197-08 TCGA-ER-A196-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0b4e60a-7023-429a-89c4-2e6782a64a9b 42380b0d-4a82-4698-953c-6277122a00c6 g.chr22:24982184C>T ENST00000318753.8 - 4 641 c.618G>A c.(616-618)gcG>gcA p.A206A GGT1_ENST00000248923.4_Intron NM_207644.2 NP_997527.2 Q2VPJ9 LRC6X_HUMAN family with sequence similarity 211, member B 206 GGCGGGGCAGCGCCCACAGGC 0.657000 8 79 0 0 2.17888e-05 0 0 FXR2 9513 broad.mit.edu 37 17 7497597 7497597 + Nonsense_Mutation SNP G G A TCGA-ER-A196-01A-11D-A197-08 TCGA-ER-A196-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0b4e60a-7023-429a-89c4-2e6782a64a9b 42380b0d-4a82-4698-953c-6277122a00c6 g.chr17:7497597G>A ENST00000250113.7 - 10 1313 c.979C>T c.(979-981)Cga>Tga p.R327* NM_004860.3 NP_004851.2 P51116 FXR2_HUMAN fragile X mental retardation, autosomal homolog 2 327 cytosolic large ribosomal subunit protein binding|RNA binding NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1) 26 READ - Rectum adenocarcinoma(115;0.17) CCTTCCACTCGAACCCTCACC 0.468000 6 26 0 0 0.000274275 0 0 CACNG3 10368 broad.mit.edu 37 16 24366269 24366269 + Silent SNP C C T TCGA-ER-A196-01A-11D-A197-08 TCGA-ER-A196-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0b4e60a-7023-429a-89c4-2e6782a64a9b 42380b0d-4a82-4698-953c-6277122a00c6 g.chr16:24366269C>T ENST00000005284.3 + 3 1613 c.411C>T c.(409-411)agC>agT p.S137S NM_006539.3 NP_006530.1 O60359 CCG3_HUMAN calcium channel, voltage-dependent, gamma subunit 3 137 regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2) 40 GBM - Glioblastoma multiforme(48;0.0809) TCATTCTCAGCGCGGGCATCT 0.577000 6 38 0 0 8.12818e-05 0 0 ARHGAP17 55114 broad.mit.edu 37 16 24981829 24981829 + Splice_Site SNP C C A TCGA-ER-A196-01A-11D-A197-08 TCGA-ER-A196-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0b4e60a-7023-429a-89c4-2e6782a64a9b 42380b0d-4a82-4698-953c-6277122a00c6 g.chr16:24981829C>A ENST00000289968.6 - 4 340 c.272_splice c.e4+1 p.G91_splice ARHGAP17_ENST00000441763.2_Splice_Site_p.G91_splice|ARHGAP17_ENST00000575975.1_5'UTR|ARHGAP17_ENST00000303665.5_Splice_Site_p.G91_splice NM_001006634.1 NP_001006635.1 Q68EM7 RHG17_HUMAN Rho GTPase activating protein 17 91 BAR. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|tight junction GTPase activator activity|SH3 domain binding breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2) 30 GBM - Glioblastoma multiforme(48;0.0407) AACTCTTACCCCAGGAGAGAG 0.498000 6 140 8.12818e-05 0.00531888 8.12818e-05 1 0 FRY 10129 broad.mit.edu 37 13 32768296 32768296 + Missense_Mutation SNP G G A TCGA-ER-A196-01A-11D-A197-08 TCGA-ER-A196-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0b4e60a-7023-429a-89c4-2e6782a64a9b 42380b0d-4a82-4698-953c-6277122a00c6 g.chr13:32768296G>A ENST00000380250.3 + 29 4104 c.3608G>A c.(3607-3609)tGc>tAc p.C1203Y NM_023037.2 NP_075463.2 Q5TBA9 FRY_HUMAN furry homolog (Drosophila) 1203 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 132 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) CAACTTGGCTGCGAAGTTGTT 0.368000 16 86 0 0 7.07596e-05 0 0 ZNF804B 219578 broad.mit.edu 37 7 88966031 88966031 + Silent SNP T T C TCGA-ER-A196-01A-11D-A197-08 TCGA-ER-A196-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0b4e60a-7023-429a-89c4-2e6782a64a9b 42380b0d-4a82-4698-953c-6277122a00c6 g.chr7:88966031T>C ENST00000333190.4 + 4 4344 c.3735T>C c.(3733-3735)ccT>ccC p.P1245P NM_181646.2 NP_857597.1 A4D1E1 Z804B_HUMAN zinc finger protein 804B 1245 intracellular zinc ion binding NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9) 144 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) ATTTCAGTCCTATTTCATTTT 0.473000 HNSCC(36;0.09) 23 82 0 0 5.49717e-05 0 0 ZNF275 10838 broad.mit.edu 37 X 152612596 152612596 + Silent SNP C C T TCGA-ER-A196-01A-11D-A197-08 TCGA-ER-A196-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0b4e60a-7023-429a-89c4-2e6782a64a9b 42380b0d-4a82-4698-953c-6277122a00c6 g.chrX:152612596C>T ENST00000421401.3 + 4 630 c.453C>T c.(451-453)caC>caT p.H151H ZNF275_ENST00000440091.1_Silent_p.H181H|ZNF275_ENST00000370251.2_Silent_p.H151H|ZNF275_ENST00000370249.2_Silent_p.H98H NM_001080485.3 NP_001073954.3 A6NFS0 A6NFS0_HUMAN zinc finger protein 275 151 intracellular nucleic acid binding|zinc ion binding endometrium(5)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1) 16 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GGAAAAGCCACGTAGCTGCGG 0.627000 8 35 0 0 0.000274275 0 0 VPS13B 157680 broad.mit.edu 37 8 100568870 100568870 + Missense_Mutation SNP T T G TCGA-ER-A196-01A-11D-A197-08 TCGA-ER-A196-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0b4e60a-7023-429a-89c4-2e6782a64a9b 42380b0d-4a82-4698-953c-6277122a00c6 g.chr8:100568870T>G ENST00000358544.2 + 31 5124 c.5013T>G c.(5011-5013)aaT>aaG p.N1671K VPS13B_ENST00000357162.2_Missense_Mutation_p.N1646K|VPS13B_ENST00000395996.1_3'UTR NM_017890.4 NP_060360.3 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 1671 protein transport NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) TTGAGTGGAATATGGCCAGCA 0.428000 23 30 0 0 7.16444e-05 0 0 CSNK1A1 1452 broad.mit.edu 37 5 148891414 148891414 + Silent SNP T T C TCGA-ER-A196-01A-11D-A197-08 TCGA-ER-A196-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0b4e60a-7023-429a-89c4-2e6782a64a9b 42380b0d-4a82-4698-953c-6277122a00c6 g.chr5:148891414T>C ENST00000261798.5 - 6 1050 c.618A>G c.(616-618)tcA>tcG p.S206S CSNK1A1_ENST00000515768.1_Silent_p.S234S|CSNK1A1_ENST00000504676.1_Silent_p.S117S|CSNK1A1_ENST00000606299.1_Intron|CSNK1A1_ENST00000515435.1_Silent_p.S145S|CSNK1A1_ENST00000606719.1_Silent_p.S3S|CSNK1A1_ENST00000377843.2_Silent_p.S206S NM_001271741.1 NP_001258670.1 P48729 KC1A_HUMAN casein kinase 1, alpha 1 206 Protein kinase. cell division|mitosis|Wnt receptor signaling pathway centrosome|condensed chromosome kinetochore|cytosol|nuclear speck ATP binding|protein binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(4) 14 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;0.0407) CATATCCTAATGATTCCATGT 0.338000 5 116 0 0 1.23904e-05 0 0 TMEM54 113452 broad.mit.edu 37 1 33361571 33361572 + Splice_Site INS - - TG TCGA-ER-A196-01A-11D-A197-08 TCGA-ER-A196-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0b4e60a-7023-429a-89c4-2e6782a64a9b 42380b0d-4a82-4698-953c-6277122a00c6 g.chr1:33361571_33361572insTG ENST00000373463.3 - 3 330 c.e3-1 TMEM54_ENST00000475208.1_Intron|TMEM54_ENST00000329151.5_Intron NM_033504.2 NP_277039.1 Q969K7 TMM54_HUMAN transmembrane protein 54 integral to membrane endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1) 6 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186) AAGTGATGACCTGTAGGGAAGG 0.609 9 29 --- --- --- --- EIF4A2 1974 broad.mit.edu 37 3 186507006 186507007 + Frame_Shift_Del DEL TC TC - TCGA-ER-A196-01A-11D-A197-08 TCGA-ER-A196-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0b4e60a-7023-429a-89c4-2e6782a64a9b 42380b0d-4a82-4698-953c-6277122a00c6 g.chr3:186507006_186507007delTC ENST00000323963.5 + 11 1236_1237 c.1172_1173delTC c.(1171-1173)tfs p.F391fs EIF4A2_ENST00000440191.2_Frame_Shift_Del_p.F392fs|EIF4A2_ENST00000356531.5_Frame_Shift_Del_p.F296fs Q14240 IF4A2_HUMAN eukaryotic translation initiation factor 4A2 391 Helicase C-terminal. 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) ATTGAGACTTTCTACAATACTA 0.446 T BCL6 NHL 23 222 --- --- --- --- ZNF518B 85460 broad.mit.edu 37 4 10445874 10445874 + Frame_Shift_Del DEL C C - TCGA-ER-A196-01A-11D-A197-08 TCGA-ER-A196-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0b4e60a-7023-429a-89c4-2e6782a64a9b 42380b0d-4a82-4698-953c-6277122a00c6 g.chr4:10445874delC ENST00000326756.3 - 3 2517 c.2079delG c.(2077-2079)ggfs p.G693fs NM_053042.2 NP_444270.2 Q9C0D4 Z518B_HUMAN zinc finger protein 518B 693 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 42 TTGATGCCTGCCCTACAGAGC 0.458 15 72 --- --- --- --- POU4F2 5458 broad.mit.edu 37 4 147560457 147560458 + In_Frame_Ins INS - - GGC rs67907220 TCGA-ER-A196-01A-11D-A197-08 TCGA-ER-A196-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0b4e60a-7023-429a-89c4-2e6782a64a9b 42380b0d-4a82-4698-953c-6277122a00c6 g.chr4:147560457_147560458insGGC ENST00000281321.3 + 1 413_414 c.165_166insGGC c.(163-168)gggcgg>ggGGCgcgg p.55_56GR>GAR AC093887.1_ENST00000584185.1_RNA NM_004575.2 NP_004566.2 Q12837 PO4F2_HUMAN POU class 4 homeobox 2 55 Poly-Gly. estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter nuclear speck RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1) 33 all_hematologic(180;0.151) ACGCTggtggtggcggcggcgg 0.762 5 5 --- --- --- --- UBQLN3 50613 broad.mit.edu 37 11 5529918 5529920 + In_Frame_Del DEL TGG TGG - rs2234451 byFrequency TCGA-ER-A196-01A-11D-A197-08 TCGA-ER-A196-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0b4e60a-7023-429a-89c4-2e6782a64a9b 42380b0d-4a82-4698-953c-6277122a00c6 g.chr11:5529918_5529920delTGG ENST00000311659.4 - 2 1016_1018 c.869_871delCCA c.(868-873)agc>a p.TS290del HBG2_ENST00000380259.2_Intron NM_017481.2 NP_059509.1 Q9H347 UBQL3_HUMAN ubiquilin 3 290 T -> S (in dbSNP:rs2234451). NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2) 39 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GAAGGTTGGCTGGTGGTGGTGGT 0.537 9 160 --- --- --- --- EMG1 10436 broad.mit.edu 37 12 7080210 7080211 + RNA INS - - G rs141646579 by1000genomes TCGA-ER-A196-01A-11D-A197-08 TCGA-ER-A196-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0b4e60a-7023-429a-89c4-2e6782a64a9b 42380b0d-4a82-4698-953c-6277122a00c6 g.chr12:7080210_7080211insG ENST00000546220.1 + 0 155_156 U47924.19_ENST00000564245.1_RNA|U47924.28_ENST00000261406.6_lincRNA Q92979 NEP1_HUMAN EMG1 N1-specific pseudouridine methyltransferase ribosomal small subunit biogenesis cytoplasm|nucleolus rRNA (pseudouridine) methyltransferase activity|rRNA binding CGGAGGCCGTAGTTTATTGTGG 0.569 3 6 --- --- --- --- RP13-329D4.3 0 broad.mit.edu 37 20 26113543 26113543 + RNA DEL A A - TCGA-ER-A196-01A-11D-A197-08 TCGA-ER-A196-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0b4e60a-7023-429a-89c4-2e6782a64a9b 42380b0d-4a82-4698-953c-6277122a00c6 g.chr20:26113543delA ENST00000416563.1 - 0 250 TCTTTGCCTTAACAACATTAT 0.363 2 4 --- --- --- ---