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 PER2 8864 broad.mit.edu 37 2 239186523 239186523 + Missense_Mutation SNP C C A TCGA-QR-A70G-01B-11D-A35D-08 TCGA-QR-A70G-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 464e014a-8df6-4ba6-b0f7-128a1030f757 b19a1c1b-4ef5-4159-a158-e1c3ae0cc556 g.chr2:239186523C>A ENST00000254657.3 - 2 334 c.55G>T c.(55-57)Gtg>Ttg p.V19L PER2_ENST00000254658.3_Missense_Mutation_p.V19L|PER2_ENST00000355768.2_Missense_Mutation_p.V19L|PER2_ENST00000440245.1_Missense_Mutation_p.V19L NM_022817.2 NP_073728.1 O15055 PER2_HUMAN period circadian clock 2 19 circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus protein binding|signal transducer activity NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244) Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161) TGGGGCTCCACGGGCTCCTTG 0.612000 3 27 6.4e-05 7.168e-05 1 1 0 SLC22A2 6582 broad.mit.edu 37 6 160645781 160645781 + Silent SNP C C T TCGA-QR-A70G-01B-11D-A35D-08 TCGA-QR-A70G-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 464e014a-8df6-4ba6-b0f7-128a1030f757 b19a1c1b-4ef5-4159-a158-e1c3ae0cc556 g.chr6:160645781C>T ENST00000366953.3 - 10 1815 c.1557G>A c.(1555-1557)ggG>ggA p.G519G SLC22A2_ENST00000491092.1_5'UTR NM_003058.3 NP_003049.2 O15244 S22A2_HUMAN solute carrier family 22 (organic cation transporter), member 2 519 body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion integral to plasma membrane|membrane fraction neurotransmitter transporter activity|organic cation transmembrane transporter activity breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1) 27 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06) GCAAAGCTTTCCCTTTAGTTT 0.418000 23 70 0 0 1 0 0 GLTSCR1L 23506 broad.mit.edu 37 6 42832767 42832767 + Silent SNP G G T TCGA-QR-A70G-01B-11D-A35D-08 TCGA-QR-A70G-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 464e014a-8df6-4ba6-b0f7-128a1030f757 b19a1c1b-4ef5-4159-a158-e1c3ae0cc556 g.chr6:42832767G>T ENST00000314073.5 + 13 2999 c.2823G>T c.(2821-2823)cgG>cgT p.R941R GLTSCR1L_ENST00000394168.1_Silent_p.R941R GLTSCR1-like AGGGGCACCGGAAAACCTCAT 0.547000 3 34 0.00024832 0.000257517 1 1 0 FRG1BP 284802 broad.mit.edu 37 20 29623239 29623239 + Missense_Mutation SNP G G A TCGA-QR-A70G-01B-11D-A35D-08 TCGA-QR-A70G-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 464e014a-8df6-4ba6-b0f7-128a1030f757 b19a1c1b-4ef5-4159-a158-e1c3ae0cc556 g.chr20:29623239G>A ENST00000439954.2 + 3 401 c.55G>A c.(55-57)Gct>Act p.A19T FRG1B_ENST00000358464.4_Silent_p.E17E|FRG1B_ENST00000278882.3_Silent_p.E17E endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TACCCTGGGAGCTCCACACAA 0.408000 6 309 0 0 1 0 0 KCNH5 27133 broad.mit.edu 37 14 63174996 63174996 + Nonsense_Mutation SNP G G A TCGA-QR-A70G-01B-11D-A35D-08 TCGA-QR-A70G-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 464e014a-8df6-4ba6-b0f7-128a1030f757 b19a1c1b-4ef5-4159-a158-e1c3ae0cc556 g.chr14:63174996G>A ENST00000322893.7 - 11 2465 c.2197C>T c.(2197-2199)Caa>Taa p.Q733* KCNH5_ENST00000420622.2_3'UTR NM_139318.3 NP_647479.2 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 5 733 regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2) 99 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) ACCTGGAGTTGGTTCCTCTCA 0.557000 19 60 0 0 1 0 0 MUC5B 727897 broad.mit.edu 37 11 1272055 1272055 + Missense_Mutation SNP G G A TCGA-QR-A70G-01B-11D-A35D-08 TCGA-QR-A70G-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 464e014a-8df6-4ba6-b0f7-128a1030f757 b19a1c1b-4ef5-4159-a158-e1c3ae0cc556 g.chr11:1272055G>A ENST00000447027.1 + 31 14012 c.13954G>A c.(13954-13956)Gcc>Acc p.A4652T MUC5B_ENST00000529681.1_Missense_Mutation_p.A4649T Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 4649 23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding p.A4649T(1)|p.A4604T(1) cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) cacccacaccgccagagtgct 0.612000 11 11 0 0 1 0 0 GABRA2 2555 broad.mit.edu 37 4 46252463 46252463 + Missense_Mutation SNP T T G TCGA-QR-A70G-01B-11D-A35D-08 TCGA-QR-A70G-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 464e014a-8df6-4ba6-b0f7-128a1030f757 b19a1c1b-4ef5-4159-a158-e1c3ae0cc556 g.chr4:46252463T>G ENST00000510861.1 - 10 1391 c.1218A>C c.(1216-1218)gaA>gaC p.E406D GABRA2_ENST00000507069.1_Missense_Mutation_p.E466D|GABRA2_ENST00000356504.1_Missense_Mutation_p.E406D|GABRA2_ENST00000381620.4_Missense_Mutation_p.E406D|GABRA2_ENST00000514090.1_Missense_Mutation_p.E406D|GABRA2_ENST00000540012.1_Missense_Mutation_p.E411D P47869 GBRA2_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 2 406 gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 56 Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) TTTTCTTTGCTTCAGCTGGCT 0.403000 25 144 0 0 1 0 0 FNDC7 163479 broad.mit.edu 37 1 109270464 109270464 + Missense_Mutation SNP G G T rs142706173 byFrequency TCGA-QR-A70G-01B-11D-A35D-08 TCGA-QR-A70G-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 464e014a-8df6-4ba6-b0f7-128a1030f757 b19a1c1b-4ef5-4159-a158-e1c3ae0cc556 g.chr1:109270464G>T ENST00000370017.3 + 7 1423 c.1146G>T c.(1144-1146)ttG>ttT p.L382F FNDC7_ENST00000271311.2_Missense_Mutation_p.L383F NM_001144937.1 NP_001138409.1 Q5VTL7 FNDC7_HUMAN fibronectin type III domain containing 7 383 Fibronectin type-III 5. extracellular region breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1) 20 all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728) Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244) ACCCCGTGTTGGTGTCCAGTG 0.522000 18 112 1.45105e-14 1.69289e-14 1 1 0 STRN4 29888 broad.mit.edu 37 19 47228840 47228840 + Silent SNP G G A rs148663953 byFrequency TCGA-QR-A70G-01B-11D-A35D-08 TCGA-QR-A70G-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 464e014a-8df6-4ba6-b0f7-128a1030f757 b19a1c1b-4ef5-4159-a158-e1c3ae0cc556 g.chr19:47228840G>A ENST00000391910.3 - 10 1785 c.1335C>T c.(1333-1335)taC>taT p.Y445Y STRN4_ENST00000539396.1_Silent_p.Y319Y|STRN4_ENST00000594357.2_5'UTR|STRN4_ENST00000263280.6_Silent_p.Y438Y Q9NRL3 STRN4_HUMAN striatin, calmodulin binding protein 4 438 cytoplasm|membrane armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212) OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035) GAATGCCGTCGTAGTGCGAGC 0.607000 16 23 0 0 1 0 0 DNAH3 55567 broad.mit.edu 37 16 21098274 21098274 + Missense_Mutation SNP G G C TCGA-QR-A70G-01B-11D-A35D-08 TCGA-QR-A70G-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 464e014a-8df6-4ba6-b0f7-128a1030f757 b19a1c1b-4ef5-4159-a158-e1c3ae0cc556 g.chr16:21098274G>C ENST00000261383.3 - 19 2772 c.2773C>G c.(2773-2775)Cgc>Ggc p.R925G DNAH3_ENST00000415178.1_Missense_Mutation_p.R925G NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 925 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) TCTGCTAAGCGCCTGGGTGCA 0.463000 4 211 0 0 1 0 0 PIKFYVE 200576 broad.mit.edu 37 2 209150561 209150561 + Missense_Mutation SNP C C T TCGA-QR-A70G-01B-11D-A35D-08 TCGA-QR-A70G-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 464e014a-8df6-4ba6-b0f7-128a1030f757 b19a1c1b-4ef5-4159-a158-e1c3ae0cc556 g.chr2:209150561C>T ENST00000264380.4 + 6 883 c.725C>T c.(724-726)tCt>tTt p.S242F PIKFYVE_ENST00000407449.1_Missense_Mutation_p.S242F|PIKFYVE_ENST00000308862.6_Missense_Mutation_p.S156F|PIKFYVE_ENST00000392202.3_Missense_Mutation_p.S145F NM_015040.3 NP_055855.2 Q9Y2I7 FYV1_HUMAN phosphoinositide kinase, FYVE finger containing 242 cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi early endosome membrane|membrane raft 1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 107 TCTGCTTGCTCTGTGTCTGTG 0.428000 4 88 0 0 1 0 0 NCR1 9437 broad.mit.edu 37 19 55421398 55421398 + Missense_Mutation SNP C C T TCGA-QR-A70G-01B-11D-A35D-08 TCGA-QR-A70G-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 464e014a-8df6-4ba6-b0f7-128a1030f757 b19a1c1b-4ef5-4159-a158-e1c3ae0cc556 g.chr19:55421398C>T ENST00000594765.1 + 5 680 c.655C>T c.(655-657)Ctt>Ttt p.L219F NCR1_ENST00000338835.5_Missense_Mutation_p.L219F|NCR1_ENST00000350790.5_Missense_Mutation_p.L124F|NCR1_ENST00000291890.4_Missense_Mutation_p.L219F|NCR1_ENST00000357397.5_Missense_Mutation_p.L112F|NCR1_ENST00000447255.1_Missense_Mutation_p.L219F|NCR1_ENST00000598576.1_Missense_Mutation_p.L207F O76036 NCTR1_HUMAN natural cytotoxicity triggering receptor 1 219 cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity integral to plasma membrane|SWI/SNF complex receptor activity|receptor signaling protein activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1) 18 GBM - Glioblastoma multiforme(193;0.0449) GAACACCAGCCTTGCACCTGA 0.433000 16 135 0 0 1 0 0 PTPN3 5774 broad.mit.edu 37 9 112182720 112182720 + Silent SNP G G T TCGA-QR-A70G-01B-11D-A35D-08 TCGA-QR-A70G-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 464e014a-8df6-4ba6-b0f7-128a1030f757 b19a1c1b-4ef5-4159-a158-e1c3ae0cc556 g.chr9:112182720G>T ENST00000412145.1 - 9 3457 c.904C>A c.(904-906)Cga>Aga p.R302R PTPN3_ENST00000374541.2_Silent_p.R433R|PTPN3_ENST00000262539.3_Silent_p.R279R|PTPN3_ENST00000446349.1_Silent_p.R257R NM_001145369.1|NM_001145371.1 NP_001138841.1|NP_001138843.1 P26045 PTN3_HUMAN protein tyrosine phosphatase, non-receptor type 3 433 FERM. negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle cytoplasm|cytoskeleton|internal side of plasma membrane ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 TGCGGGCTTCGGTTCTGAGAA 0.453000 4 47 0.00909568 0.00909568 1 1 0 CCDC88C 440193 broad.mit.edu 37 14 91875056 91875056 + Missense_Mutation SNP G G A TCGA-QR-A70G-01B-11D-A35D-08 TCGA-QR-A70G-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 464e014a-8df6-4ba6-b0f7-128a1030f757 b19a1c1b-4ef5-4159-a158-e1c3ae0cc556 g.chr14:91875056G>A ENST00000389857.6 - 3 303 c.217C>T c.(217-219)Ctt>Ttt p.L73F CCDC88C_ENST00000389856.5_Missense_Mutation_p.L65F|CCDC88C_ENST00000553403.1_Missense_Mutation_p.L73F|CCDC88C_ENST00000554165.1_5'UTR NM_001080414.3 NP_001073883.2 Q9P219 DAPLE_HUMAN coiled-coil domain containing 88C 73 L -> F (in Ref. 1; CQ719279). microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway cytoplasm|insoluble fraction microtubule binding|PDZ domain binding|protein self-association central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1) 24 all_cancers(154;0.0468) TGAATGCGAAGGTTCACATCA 0.458000 4 30 0 0 1 0 0 MMP14 4323 broad.mit.edu 37 14 23311796 23311796 + Missense_Mutation SNP T T A TCGA-QR-A70G-01B-11D-A35D-08 TCGA-QR-A70G-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 464e014a-8df6-4ba6-b0f7-128a1030f757 b19a1c1b-4ef5-4159-a158-e1c3ae0cc556 g.chr14:23311796T>A ENST00000311852.6 + 4 819 c.558T>A c.(556-558)caT>caA p.H186Q MMP14_ENST00000548162.1_3'UTR NM_004995.2 NP_004986.1 P50281 MMP14_HUMAN matrix metallopeptidase 14 (membrane-inserted) 186 extracellular matrix|integral to plasma membrane|melanosome calcium ion binding|metalloendopeptidase activity|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1) 20 all_cancers(95;9.47e-05) GBM - Glioblastoma multiforme(265;0.00551) AGGGCTTCCATGGCGACAGCA 0.617000 11 32 0 0 1 0 0 NPY1R 4886 broad.mit.edu 37 4 164246696 164246696 + Missense_Mutation SNP C C G TCGA-QR-A70G-01B-11D-A35D-08 TCGA-QR-A70G-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 464e014a-8df6-4ba6-b0f7-128a1030f757 b19a1c1b-4ef5-4159-a158-e1c3ae0cc556 g.chr4:164246696C>G ENST00000296533.2 - 3 1445 c.914G>C c.(913-915)tGc>tCc p.C305S NPY1R_ENST00000509586.1_Missense_Mutation_p.C62S NM_000909.5 NP_000900.1 P25929 NPY1R_HUMAN neuropeptide Y receptor Y1 305 inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis integral to plasma membrane protein binding breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4) 30 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) TGTGAGGTGGCAGAGCAGGAA 0.423000 6 47 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179596174 179596174 + Silent SNP G G A TCGA-QR-A70G-01B-11D-A35D-08 TCGA-QR-A70G-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 464e014a-8df6-4ba6-b0f7-128a1030f757 b19a1c1b-4ef5-4159-a158-e1c3ae0cc556 g.chr2:179596174G>A ENST00000589042.1 - 59 17543 c.17319C>T c.(17317-17319)gaC>gaT p.D5773D TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.D4529D|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Silent_p.D5456D NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 5456 Ig-like 38. 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) TTATATTATCGTCTTCAGTGA 0.483000 23 51 0 0 1 0 0 BOC 91653 broad.mit.edu 37 3 112987285 112987285 + Silent SNP C C A TCGA-QR-A70G-01B-11D-A35D-08 TCGA-QR-A70G-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 464e014a-8df6-4ba6-b0f7-128a1030f757 b19a1c1b-4ef5-4159-a158-e1c3ae0cc556 g.chr3:112987285C>A ENST00000495514.1 + 5 1220 c.516C>A c.(514-516)gcC>gcA p.A172A BOC_ENST00000273395.4_Silent_p.A172A|BOC_ENST00000355385.3_Silent_p.A172A Q9BWV1 BOC_HUMAN BOC cell adhesion associated, oncogene regulated 172 Ig-like C2-type 2. cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation integral to membrane|plasma membrane protein binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 Epithelial(53;0.227) GGCTGGAGGCCTCCAGAGGTG 0.617000 3 15 0.00024832 0.000257517 1 1 0 MACROD2 140733 broad.mit.edu 37 20 15480461 15480461 + Missense_Mutation SNP T T C TCGA-QR-A70G-01B-11D-A35D-08 TCGA-QR-A70G-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 464e014a-8df6-4ba6-b0f7-128a1030f757 b19a1c1b-4ef5-4159-a158-e1c3ae0cc556 g.chr20:15480461T>C ENST00000217246.4 + 8 1009 c.614T>C c.(613-615)aTt>aCt p.I205T MACROD2_ENST00000310348.4_Missense_Mutation_p.I205T|MACROD2_ENST00000402914.1_5'UTR NM_080676.5 NP_542407.2 A1Z1Q3 MACD2_HUMAN MACRO domain containing 2 205 Macro. breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1) 20 all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175) CTCAACACCATTAAGGAATGG 0.448000 20 26 0 0 1 0 0 POLE2 5427 broad.mit.edu 37 14 50146494 50146494 + Missense_Mutation SNP G G C TCGA-QR-A70G-01B-11D-A35D-08 TCGA-QR-A70G-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 464e014a-8df6-4ba6-b0f7-128a1030f757 b19a1c1b-4ef5-4159-a158-e1c3ae0cc556 g.chr14:50146494G>C ENST00000539565.2 - 3 412 c.194C>G c.(193-195)tCt>tGt p.S65C POLE2_ENST00000553805.2_Missense_Mutation_p.S65C|POLE2_ENST00000216367.5_Missense_Mutation_p.S65C|POLE2_ENST00000554396.1_Missense_Mutation_p.S65C|POLE2_ENST00000556584.1_5'UTR NM_001197330.1 NP_001184259.1 P56282 DPOE2_HUMAN polymerase (DNA directed), epsilon 2, accessory subunit 65 DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm DNA binding|DNA-directed DNA polymerase activity kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 10 all_epithelial(31;0.0021)|Breast(41;0.0124) TTCCACCACAGATCGTTCAAT 0.368000 12 20 0 0 1 0 0 IGFBP3 3486 broad.mit.edu 37 7 45956263 45956263 + Missense_Mutation SNP G G A TCGA-QR-A70G-01B-11D-A35D-08 TCGA-QR-A70G-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 464e014a-8df6-4ba6-b0f7-128a1030f757 b19a1c1b-4ef5-4159-a158-e1c3ae0cc556 g.chr7:45956263G>A ENST00000275521.6 - 3 767 c.634C>T c.(634-636)Ccc>Tcc p.P212S IGFBP3_ENST00000381086.5_Missense_Mutation_p.P115S|IGFBP3_ENST00000465642.1_5'UTR|IGFBP3_ENST00000381083.4_Missense_Mutation_p.P218S NM_000598.4|NM_001013398.1 NP_000589.2|NP_001013416.1 P17936 IBP3_HUMAN insulin-like growth factor binding protein 3 212 Thyroglobulin type-1. negative regulation of protein phosphorylation|negative regulation of signal transduction|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|positive regulation of apoptosis|positive regulation of myoblast differentiation|protein phosphorylation|regulation of cell growth nucleus insulin-like growth factor I binding|metal ion binding|protein tyrosine phosphatase activator activity large_intestine(6)|lung(7)|pancreas(1)|prostate(3) 17 Mecasermin(DB01277) CTACGGCAGGGACCCTGGGGA 0.468000 5 83 0 0 1 0 0 PODNL1 79883 broad.mit.edu 37 19 14043665 14043665 + Silent SNP C C T TCGA-QR-A70G-01B-11D-A35D-08 TCGA-QR-A70G-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 464e014a-8df6-4ba6-b0f7-128a1030f757 b19a1c1b-4ef5-4159-a158-e1c3ae0cc556 g.chr19:14043665C>T ENST00000538517.2 - 6 1363 c.1119G>A c.(1117-1119)cgG>cgA p.R373R PODNL1_ENST00000339560.5_Silent_p.R464R|PODNL1_ENST00000538371.2_Silent_p.R462R|PODNL1_ENST00000254320.3_Silent_p.R382R NM_001146255.1 NP_001139727.1 Q6PEZ8 PONL1_HUMAN podocan-like 1 464 Leu-rich. proteinaceous extracellular matrix central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1) 8 OV - Ovarian serous cystadenocarcinoma(19;5.26e-23) CGACCCGGAGCCGGTTGTGCG 0.692000 5 13 0 0 1 0 0 TEKT4P2 100132288 broad.mit.edu 37 21 9912066 9912068 + RNA DEL CAG CAG - TCGA-QR-A70G-01B-11D-A35D-08 TCGA-QR-A70G-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 464e014a-8df6-4ba6-b0f7-128a1030f757 b19a1c1b-4ef5-4159-a158-e1c3ae0cc556 g.chr21:9912066_9912068delCAG ENST00000416067.1 - 0 129 NR_037872.1|NR_038327.1 GCTTCTGGGCCAGCAGCAGGTCG 0.660 3 5 --- --- --- ---