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 TOPORS 10210 broad.mit.edu 37 9 32542338 32542338 + Missense_Mutation SNP G G A TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr9:32542338G>A ENST00000360538.2 - 3 2301 c.2185C>T c.(2185-2187)Cat>Tat p.H729Y TOPORS_ENST00000379858.1_Missense_Mutation_p.H664Y NM_005802.4 NP_005793.2 Q9NS56 TOPRS_HUMAN topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase 729 Arg-rich.|Interaction with TOP1.|Interaction with p53/TP53. DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent nuclear speck|PML body antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 12 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.0018) CTAGAATAATGAGCTCTGGAC 0.378000 10 154 0 0 0.006214 0 0 NPSR1 387129 broad.mit.edu 37 7 34888178 34888178 + Missense_Mutation SNP T T C TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr7:34888178T>C ENST00000360581.1 + 8 1056 c.928T>C c.(928-930)Tat>Cat p.Y310H NPSR1_ENST00000359791.1_Missense_Mutation_p.Y310H|NPSR1_ENST00000531252.1_Missense_Mutation_p.Y299H|NPSR1_ENST00000381539.3_Missense_Mutation_p.Y310H|NPSR1_ENST00000381542.1_Missense_Mutation_p.Y244H NM_207172.1 NP_997055.1 Q6W5P4 NPSR1_HUMAN neuropeptide S receptor 1 310 cytoplasm|integral to membrane|plasma membrane vasopressin receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7) 31 Halothane(DB01159) GGAGCGTTTCTATGCCTCTGT 0.498000 11 203 0 0 0.008291 0 0 NUP62 23636 broad.mit.edu 37 19 50412820 50412820 + Missense_Mutation SNP G G A TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr19:50412820G>A ENST00000596217.1 - 2 2132 c.245C>T c.(244-246)gCt>gTt p.A82V NUP62_ENST00000422090.2_Missense_Mutation_p.A82V|NUP62_ENST00000413454.1_Missense_Mutation_p.A82V|NUP62_ENST00000597029.1_Missense_Mutation_p.A82V|NUP62_ENST00000352066.3_Missense_Mutation_p.A82V|IL4I1_ENST00000595948.1_Intron|IL4I1_ENST00000341114.3_Intron|CTC-326K19.6_ENST00000451973.1_3'UTR|NUP62_ENST00000597723.1_Missense_Mutation_p.A82V P37198 NUP62_HUMAN nucleoporin 62kDa 82 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) TCCCCCCGAAGCAAGAGTCGC 0.577000 14 131 0 0 0.001855 0 0 KIF4B 285643 broad.mit.edu 37 5 154393632 154393632 + Silent SNP G G A TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr5:154393632G>A ENST00000435029.4 + 1 373 c.213G>A c.(211-213)ccG>ccA p.P71P NM_001099293.1 NP_001092763.1 Q2VIQ3 KIF4B_HUMAN kinesin family member 4B 71 Kinesin-motor. axon guidance|blood coagulation|microtubule-based movement cytosol|microtubule|nuclear matrix ATP binding|DNA binding|microtubule motor activity p.P71P(2) breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1) 58 Renal(175;0.00488) Medulloblastoma(196;0.0523) KIRC - Kidney renal clear cell carcinoma(527;0.00112) CAGTAGCGCCGCTCATAAAAG 0.463000 9 62 0 0 0.004482 0 0 CLSTN2 64084 broad.mit.edu 37 3 140277533 140277533 + Silent SNP G G C TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr3:140277533G>C ENST00000458420.3 + 12 2065 c.1875G>C c.(1873-1875)gtG>gtC p.V625V NM_022131.2 NP_071414.2 Q9H4D0 CSTN2_HUMAN calsyntenin 2 625 homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 87 ATGCCTATGTGATGGTCCTCC 0.547000 HNSCC(16;0.037) 5 65 0 0 0.000602 0 0 PTPRC 5788 broad.mit.edu 37 1 198668699 198668699 + Missense_Mutation SNP C C T TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr1:198668699C>T ENST00000367376.2 + 5 470 c.299C>T c.(298-300)tCa>tTa p.S100L PTPRC_ENST00000594404.1_Intron|PTPRC_ENST00000391970.3_3'UTR|PTPRC_ENST00000348564.6_Intron|PTPRC_ENST00000352140.3_Missense_Mutation_p.S100L|PTPRC_ENST00000442510.2_Missense_Mutation_p.S102L NM_002838.4 NP_002829.3 P08575 PTPRC_HUMAN protein tyrosine phosphatase, receptor type, C 100 axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway focal adhesion|integral to plasma membrane|membrane raft protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 111 TTAGGTGTTTCATCAGTACAG 0.488000 OREG0014061 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 72 0 0 0.009096 0 0 CELSR2 1952 broad.mit.edu 37 1 109806318 109806318 + Silent SNP C C T TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr1:109806318C>T ENST00000271332.3 + 9 4981 c.4920C>T c.(4918-4920)ctC>ctT p.L1640L NM_001408.2 NP_001399.1 Q9HCU4 CELR2_HUMAN cadherin, EGF LAG seven-pass G-type receptor 2 1640 Laminin G-like 2. dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2) 82 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) CCTGGTACCTCAGCCTCATGT 0.652000 OREG0013632 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 120 0 0 0.001984 0 0 ZNF391 346157 broad.mit.edu 37 6 27368887 27368887 + Missense_Mutation SNP G G C TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr6:27368887G>C ENST00000244576.4 + 3 1283 c.738G>C c.(736-738)gaG>gaC p.E246D NM_001076781.1 NP_001070249.1 Q9UJN7 ZN391_HUMAN zinc finger protein 391 246 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|large_intestine(6)|lung(7)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1) 21 ACACTGGAGAGAATCCCTATG 0.433000 3 44 0 0 0.004672 0 0 BMPR2 659 broad.mit.edu 37 2 203420620 203420620 + Silent SNP T T G TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr2:203420620T>G ENST00000374580.4 + 12 2771 c.2232T>G c.(2230-2232)ccT>ccG p.P744P BMPR2_ENST00000374574.2_Intron NM_001204.6 NP_001195.2 Q13873 BMPR2_HUMAN bone morphogenetic protein receptor, type II (serine/threonine kinase) 744 anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway integral to plasma membrane ATP binding|metal ion binding|transforming growth factor beta receptor activity autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2) 42 AGATCTATCCTCTCCCCAAGC 0.458000 5 72 0 0 0.001168 0 0 TRAP1 10131 broad.mit.edu 37 16 3736066 3736066 + Silent SNP G G A TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr16:3736066G>A ENST00000246957.5 - 4 490 c.402C>T c.(400-402)gaC>gaT p.D134D TRAP1_ENST00000538171.1_Silent_p.D81D NM_016292.2 NP_057376.2 Q12931 TRAP1_HUMAN TNF receptor-associated protein 1 134 cellular response to oxidative stress|protein folding mitochondrion ATP binding|tumor necrosis factor receptor binding|unfolded protein binding central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 19 Ovarian(90;0.0261) GTGCTTGGCCGTCAGACACCA 0.532000 4 58 0 0 0.009096 0 0 OR5B12 390191 broad.mit.edu 37 11 58207492 58207492 + Missense_Mutation SNP C C G TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr11:58207492C>G ENST00000302572.2 - 1 154 c.133G>C c.(133-135)Gaa>Caa p.E45Q NM_001004733.2 NP_001004733.1 Q96R08 OR5BC_HUMAN olfactory receptor, family 5, subfamily B, member 12 45 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1) 40 Esophageal squamous(5;0.0027) Breast(21;0.0778) AGAATCAATTCAATCATCCCC 0.488000 5 49 0 0 0.000602 0 0 PHC3 80012 broad.mit.edu 37 3 169835109 169835109 + Missense_Mutation SNP T T C TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr3:169835109T>C ENST00000494943.1 - 10 2130 c.2062A>G c.(2062-2064)Ata>Gta p.I688V PHC3_ENST00000467570.1_Missense_Mutation_p.I647V|PHC3_ENST00000495893.1_Missense_Mutation_p.I700V Q8NDX5 PHC3_HUMAN polyhomeotic homolog 3 (Drosophila) 688 multicellular organismal development PcG protein complex DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2) 26 all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655) TTGTTCTCTATACTGGGAATG 0.448000 7 42 0 0 0.001984 0 0 TLN2 83660 broad.mit.edu 37 15 62942335 62942335 + Nonsense_Mutation SNP G G A TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr15:62942335G>A ENST00000561311.1 + 4 419 c.189G>A c.(187-189)tgG>tgA p.W63* TLN2_ENST00000306829.6_Nonsense_Mutation_p.W63* Q9Y4G6 TLN2_HUMAN talin 2 63 cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse actin binding|insulin receptor binding|structural constituent of cytoskeleton NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5) 99 AAGGGATTTGGCTGGAAGCGG 0.478000 7 87 0 0 0.003080 0 0 IFT81 28981 broad.mit.edu 37 12 110574583 110574583 + Silent SNP A A G TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr12:110574583A>G ENST00000242591.5 + 8 1205 c.699A>G c.(697-699)ctA>ctG p.L233L IFT81_ENST00000552912.1_Silent_p.L233L|IFT81_ENST00000361948.4_Silent_p.L233L NM_014055.3 NP_054774.2 Q8WYA0 IFT81_HUMAN intraflagellar transport 81 homolog (Chlamydomonas) 233 cell differentiation|multicellular organismal development|spermatogenesis intraflagellar transport particle B|microtubule-based flagellum endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1) 10 TTTTAAAGCTATTTCATGCAG 0.348000 3 21 0 0 0.004672 0 0 AKAP6 9472 broad.mit.edu 37 14 33292535 33292535 + Missense_Mutation SNP C C G TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr14:33292535C>G ENST00000280979.4 + 13 5686 c.5516C>G c.(5515-5517)cCc>cGc p.P1839R AKAP6_ENST00000557272.1_Intron NM_004274.4 NP_004265.3 Q13023 AKAP6_HUMAN A kinase (PRKA) anchor protein 6 1839 P -> T (in a colorectal cancer sample; somatic mutation). protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2) 122 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) ATGACCAATCCCTCTGATACT 0.373000 4 75 0 0 0.000602 0 0 FAT1 2195 broad.mit.edu 37 4 187530345 187530345 + Nonsense_Mutation SNP G G A TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr4:187530345G>A ENST00000441802.2 - 16 10407 c.10198C>T c.(10198-10200)Cga>Tga p.R3400* NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 3400 Cadherin 31. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 ACCGTTTCTCGGTCGAGAAGT 0.453000 HNSCC(5;0.00058) 8 33 0 0 0.006214 0 0 TP63 8626 broad.mit.edu 37 3 189526137 189526137 + Missense_Mutation SNP A A G TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr3:189526137A>G ENST00000264731.3 + 4 490 c.401A>G c.(400-402)tAt>tGt p.Y134C TP63_ENST00000392463.2_Missense_Mutation_p.Y40C|TP63_ENST00000392460.3_Missense_Mutation_p.Y134C|TP63_ENST00000392461.3_Missense_Mutation_p.Y40C|TP63_ENST00000320472.5_Missense_Mutation_p.Y134C|TP63_ENST00000437221.1_Missense_Mutation_p.Y40C|TP63_ENST00000440651.2_Missense_Mutation_p.Y134C|TP63_ENST00000354600.5_Missense_Mutation_p.Y40C|TP63_ENST00000418709.2_Missense_Mutation_p.Y134C|TP63_ENST00000449992.1_Intron|TP63_ENST00000382063.4_Intron|TP63_ENST00000456148.1_Missense_Mutation_p.Y40C NM_001114978.1|NM_003722.4 NP_001108450.1|NP_003713.3 Q9H3D4 P63_HUMAN tumor protein p63 134 anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6) 61 all_cancers(143;3.35e-10)|Ovarian(172;0.0925) Lung(62;3.33e-05) GBM - Glioblastoma multiforme(93;0.0227) ACCAGTCCCTATAACACAGAC 0.617000 HNSCC(45;0.13) 15 80 0 0 0.002450 0 0 VDR 7421 broad.mit.edu 37 12 48238570 48238570 + Missense_Mutation SNP T T C TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr12:48238570T>C ENST00000229022.3 - 11 1524 c.1243A>G c.(1243-1245)Acg>Gcg p.T415A VDR_ENST00000549336.1_Missense_Mutation_p.T415A|VDR_ENST00000535672.1_Missense_Mutation_p.T383A|VDR_ENST00000550325.1_Missense_Mutation_p.T465A|VDR_ENST00000395324.2_Missense_Mutation_p.T415A NM_001017535.1 NP_001017535.1 P11473 VDR_HUMAN vitamin D (1,25- dihydroxyvitamin D3) receptor 415 Ligand-binding. decidualization|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D 24-hydroxylase activity|regulation of calcidiol 1-monooxygenase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm retinoid X receptor binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|vitamin D3 receptor activity|zinc ion binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(3)|skin(2) 22 Acute lymphoblastic leukemia(13;0.109)|all_hematologic(14;0.214) GBM - Glioblastoma multiforme(48;0.17) Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Dihydrotachysterol(DB01070)|Ergocalciferol(DB00153)|Paricalcitol(DB00910) ACAAGGGGCGTTAGCTTCATG 0.607000 4 31 0 0 0.009096 0 0 CYTH2 9266 broad.mit.edu 37 19 48981788 48981788 + Missense_Mutation SNP A A G rs144064799 TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr19:48981788A>G ENST00000427476.1 + 11 1354 c.1054A>G c.(1054-1056)Atg>Gtg p.M352V CYTH2_ENST00000452733.2_Missense_Mutation_p.M351V NM_004228.6|NM_017457.5 NP_004219.3|NP_059431.1 Q99418 CYH2_HUMAN cytohesin 2 352 PH. actin cytoskeleton organization|endocytosis|regulation of ARF protein signal transduction|regulation of cell adhesion cytoplasm|membrane fraction|plasma membrane ARF guanyl-nucleotide exchange factor activity|protein binding endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 15 GGGAAACCACATGGTGTACCG 0.592000 3 54 0 0 0.004672 0 0 SLC8A3 6547 broad.mit.edu 37 14 70633915 70633915 + Missense_Mutation SNP C C G TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr14:70633915C>G ENST00000381269.2 - 2 1978 c.1225G>C c.(1225-1227)Gag>Cag p.E409Q SLC8A3_ENST00000534137.1_Missense_Mutation_p.E409Q|SLC8A3_ENST00000357887.3_Missense_Mutation_p.E409Q|SLC8A3_ENST00000528359.1_Missense_Mutation_p.E409Q|SLC8A3_ENST00000356921.2_Missense_Mutation_p.E409Q NM_058240.2|NM_183002.1 NP_489479.1|NP_892114.1 P57103 NAC3_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 3 409 Calx-beta 1. cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6) 54 BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555) CCACAGTTCTCCAGGCACTGG 0.512000 15 106 0 0 0.004007 0 0 RARG 5916 broad.mit.edu 37 12 53609131 53609131 + Missense_Mutation SNP G G A TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr12:53609131G>A ENST00000425354.2 - 5 908 c.421C>T c.(421-423)Cgc>Tgc p.R141C RARG_ENST00000543762.1_5'UTR|RARG_ENST00000543726.1_Missense_Mutation_p.R119C|RARG_ENST00000327550.3_Missense_Mutation_p.R69C|RARG_ENST00000394426.1_Missense_Mutation_p.R141C|RARG_ENST00000338561.5_Missense_Mutation_p.R130C NM_000966.5 NP_000957.1 P13631 RARG_HUMAN retinoic acid receptor, gamma 141 canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid integral to membrane|transcription factor complex retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755) TACTGGCAGCGATTCCTGGTC 0.552000 8 85 0 0 0.004482 0 0 ZKSCAN2 342357 broad.mit.edu 37 16 25255343 25255343 + Missense_Mutation SNP G G C TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr16:25255343G>C ENST00000328086.7 - 6 2547 c.1744C>G c.(1744-1746)Ctg>Gtg p.L582V NM_001012981.4 NP_001012999.3 Q63HK3 ZKSC2_HUMAN zinc finger with KRAB and SCAN domains 2 582 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1) 36 GBM - Glioblastoma multiforme(48;0.0378) GAGTTAATCAGGGCATCCATC 0.532000 7 59 0 0 0.001984 0 0 KEAP1 9817 broad.mit.edu 37 19 10597384 10597384 + Missense_Mutation SNP C C G TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr19:10597384C>G ENST00000171111.5 - 6 2366 c.1819G>C c.(1819-1821)Gct>Cct p.A607P KEAP1_ENST00000393623.2_Missense_Mutation_p.A607P NM_203500.1 NP_987096.1 Q14145 KEAP1_HUMAN kelch-like ECH-associated protein 1 607 regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|midbody|nucleus protein binding breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 92 OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05) ATGGTGACAGCCACGCCCACC 0.557000 8 122 0 0 0.003080 0 0 MMP7 4316 broad.mit.edu 37 11 102401427 102401427 + Missense_Mutation SNP C C T TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr11:102401427C>T ENST00000260227.4 - 1 57 c.5G>A c.(4-6)cGa>cAa p.R2Q NM_002423.3 NP_002414.1 P09237 MMP7_HUMAN matrix metallopeptidase 7 (matrilysin, uterine) 2 collagen catabolic process|proteolysis extracellular space|proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.R2Q(1) large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 12 all_cancers(8;2.04e-05)|all_epithelial(12;0.00053)|Lung NSC(15;0.139) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033) Epithelial(9;0.0105)|all cancers(10;0.0496)|Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151) BRCA - Breast invasive adenocarcinoma(274;0.0147) CACGGTGAGTCGCATAGCTGC 0.547000 5 50 0 0 0.001984 0 0 TRIM24 8805 broad.mit.edu 37 7 138269634 138269634 + Missense_Mutation SNP G G A TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr7:138269634G>A ENST00000343526.4 + 19 3306 c.3091G>A c.(3091-3093)Gac>Aac p.D1031N TRIM24_ENST00000415680.2_Missense_Mutation_p.D997N O15164 TIF1A_HUMAN tripartite motif containing 24 1031 cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter cytoplasm chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 40 TTCAGATGATGACTTTGTACA 0.373000 4 46 0 0 0.009096 0 0 DLK2 65989 broad.mit.edu 37 6 43418618 43418618 + Missense_Mutation SNP C C G TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr6:43418618C>G ENST00000357338.3 - 6 1511 c.811G>C c.(811-813)Gtg>Ctg p.V271L DLK2_ENST00000414245.1_Missense_Mutation_p.V265L|DLK2_ENST00000372488.3_Missense_Mutation_p.V271L|DLK2_ENST00000372485.1_Missense_Mutation_p.V265L NM_206539.1 NP_996262.1 Q6UY11 DLK2_HUMAN delta-like 2 homolog (Drosophila) 271 integral to membrane calcium ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1) 7 all_lung(25;0.00536) Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804) GCAGGTACCACTACAGCTGAG 0.647000 6 63 0 0 0.001168 0 0 TRIML2 205860 broad.mit.edu 37 4 189022315 189022315 + Missense_Mutation SNP C C G TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr4:189022315C>G ENST00000512729.1 - 3 599 c.225G>C c.(223-225)caG>caC p.Q75H TRIML2_ENST00000326754.3_Missense_Mutation_p.Q75H|TRIML2_ENST00000536972.1_Missense_Mutation_p.Q125H NM_173553.1 NP_775824.1 Q8N7C3 TRIMM_HUMAN tripartite motif family-like 2 75 ligase activity central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1) 39 all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513) OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163) CCTGCTGTCTCTGGAGATTCT 0.428000 5 45 0 0 0.001984 0 0 C22orf29 79680 broad.mit.edu 37 22 19839545 19839545 + Silent SNP A A T TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr22:19839545A>T ENST00000405640.1 - 2 908 c.240T>A c.(238-240)ggT>ggA p.G80G GNB1L_ENST00000405009.1_Intron|C22orf29_ENST00000484072.1_Intron|GNB1L_ENST00000329517.6_Intron|GNB1L_ENST00000460402.1_Intron|C22orf29_ENST00000407472.1_Silent_p.G80G|GNB1L_ENST00000403325.1_Intron|C22orf29_ENST00000328554.4_Silent_p.G80G Q7L3V2 CV029_HUMAN chromosome 22 open reading frame 29 80 NS(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1) 7 Colorectal(54;0.0993) CAGCTAGGGGACCCCTTTCTG 0.627000 11 50 0 0 0.001855 0 0 GPR89A 653519 broad.mit.edu 37 1 145765384 145765384 + Silent SNP T T C TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr1:145765384T>C ENST00000313835.9 - 13 1289 c.1146A>G c.(1144-1146)ctA>ctG p.L382L GPR89A_ENST00000462900.2_Silent_p.L357L|GPR89A_ENST00000534502.1_Silent_p.L357L|GPR89A_ENST00000454423.3_Silent_p.L262L B7ZAQ6 GPHRA_HUMAN G protein-coupled receptor 89A 382 intracellular pH reduction|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein transport Golgi cisterna membrane|Golgi-associated vesicle membrane|integral to membrane signal transducer activity|voltage-gated anion channel activity breast(1)|large_intestine(3)|lung(1)|skin(1) 6 all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786) KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229) TCTGTGCTAATAGCAGGACAA 0.328000 23 173 0 0 0.003954 0 0 YY1 7528 broad.mit.edu 37 14 100728656 100728656 + Missense_Mutation SNP T T C TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr14:100728656T>C ENST00000262238.4 + 2 955 c.695T>C c.(694-696)aTt>aCt p.I232T NM_003403.3 NP_003394.1 P25490 TYY1_HUMAN YY1 transcription factor 232 cell differentiation|cellular response to UV|double-strand break repair via homologous recombination|negative regulation of transcription from RNA polymerase II promoter|response to UV-C|spermatogenesis Ino80 complex|nuclear matrix|plasma membrane four-way junction DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding cervix(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)|prostate(4)|skin(1) 11 Melanoma(154;0.152) AAAAAAGATATTGACCATGAG 0.333000 4 47 0 0 0.009096 0 0 MCM3AP 8888 broad.mit.edu 37 21 47700039 47700039 + Missense_Mutation SNP T T A TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr21:47700039T>A ENST00000397708.1 - 5 1789 c.1535A>T c.(1534-1536)aAa>aTa p.K512I MCM3AP_ENST00000291688.1_Missense_Mutation_p.K512I O60318 MCM3A_HUMAN minichromosome maintenance complex component 3 associated protein 512 DNA replication|protein import into nucleus cytosol|nucleus DNA binding|nucleotide binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 72 Breast(49;0.112) GGAAAAGGGTTTCTTATTGGG 0.483000 8 126 0 0 0.004482 0 0 ZNF563 147837 broad.mit.edu 37 19 12429679 12429679 + Missense_Mutation SNP T T A TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr19:12429679T>A ENST00000293725.5 - 4 1365 c.1160A>T c.(1159-1161)cAc>cTc p.H387L NM_145276.2 NP_660319.1 Q8TA94 ZN563_HUMAN zinc finger protein 563 387 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 ACCTCCAGTGTGCATTATCAT 0.418000 13 144 0 0 0.002450 0 0 CHL1 10752 broad.mit.edu 37 3 369921 369921 + Missense_Mutation SNP G G A TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr3:369921G>A ENST00000256509.2 + 5 911 c.269G>A c.(268-270)gGa>gAa p.G90E CHL1_ENST00000397491.2_Missense_Mutation_p.G90E NM_001253387.1|NM_001253388.1|NM_006614.3 NP_001240316.1|NP_001240317.1|NP_006605.2 O00533 CHL1_HUMAN cell adhesion molecule L1-like 90 Ig-like C2-type 1. axon guidance|cell adhesion|signal transduction integral to membrane|plasma membrane|proteinaceous extracellular matrix NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1) 93 all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201) Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198) AACAATTCAGGAACATTCAGG 0.388000 6 94 0 0 0.003080 0 0 LHX9 56956 broad.mit.edu 37 1 197887087 197887087 + Missense_Mutation SNP C C T TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr1:197887087C>T ENST00000367390.3 + 2 134 c.107C>T c.(106-108)gCc>gTc p.A36V LHX9_ENST00000561173.1_Missense_Mutation_p.A51V|LHX9_ENST00000367391.1_Missense_Mutation_p.A36V|LHX9_ENST00000337020.2_Missense_Mutation_p.A45V|LHX9_ENST00000367387.4_Missense_Mutation_p.A45V|LHX9_ENST00000606127.1_3'UTR NM_001014434.1 NP_001014434.1 Q9NQ69 LHX9_HUMAN LIM homeobox 9 45 motor axon guidance|negative regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1) 35 AAGACTGAGGCCCGTCTGGCC 0.657000 7 79 0 0 0.001984 0 0 AMIGO2 347902 broad.mit.edu 37 12 47472579 47472579 + Silent SNP C C T TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr12:47472579C>T ENST00000266581.4 - 2 673 c.207G>A c.(205-207)ctG>ctA p.L69L AMIGO2_ENST00000550413.1_Silent_p.L69L|AMIGO2_ENST00000321382.3_Silent_p.L69L|AMIGO2_ENST00000429635.1_Silent_p.L69L NM_181847.4 NP_862830.1 Q86SJ2 AMGO2_HUMAN adhesion molecule with Ig-like domain 2 69 heterophilic cell-cell adhesion|homophilic cell adhesion integral to membrane|nucleus|plasma membrane endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Renal(347;0.138)|Lung SC(27;0.192) GTCTCTTAATCAGTCTGAAAA 0.493000 7 66 0 0 0.001984 0 0 WASH3P 374666 broad.mit.edu 37 15 102516424 102516424 + RNA SNP G G T TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr15:102516424G>T ENST00000557932.1 + 0 1372 p.P449P(4) central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1) 25 TGCCGCCACCGCAGCAGCCAC 0.647000 4 62 0.00116845 0.00127231 0.001168 1 0 UBBP4 23666 broad.mit.edu 37 17 21730847 21730847 + Missense_Mutation SNP G G T TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr17:21730847G>T ENST00000584755.1 + 2 546 c.149G>T c.(148-150)cGg>cTg p.R50L UBBP4_ENST00000578713.1_Missense_Mutation_p.R50L|UBBP4_ENST00000584398.1_Intron|UBBP4_ENST00000583708.1_Intron endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 GGCAAGCAGCGGGAAGATGGC 0.522000 3 36 0.004672 0.0049767 0.004672 1 0 CRYBG3 131544 broad.mit.edu 37 3 97598838 97598838 + Missense_Mutation SNP T T A TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr3:97598838T>A ENST00000182096.4 + 3 1118 c.1054T>A c.(1054-1056)Tat>Aat p.Y352N NM_153605.3 NP_705833.3 beta-gamma crystallin domain containing 3 breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2) 32 GATGGTTATCTATGATCTCCA 0.284000 10 59 0 0 0.006214 0 0 UBE2G2 7327 broad.mit.edu 37 21 46193489 46193489 + Silent SNP G G A TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr21:46193489G>A ENST00000345496.2 - 5 628 c.358C>T c.(358-360)Ctg>Ttg p.L120L UBE2G2_ENST00000477954.1_5'UTR|UBE2G2_ENST00000330942.5_Silent_p.L92L NM_003343.5 NP_003334.2 P60604 UB2G2_HUMAN ubiquitin-conjugating enzyme E2G 2 120 protein K48-linked ubiquitination cytosol ATP binding|protein binding|ubiquitin-protein ligase activity breast(3)|central_nervous_system(1)|lung(1) 5 Colorectal(79;0.0638) ACCGACAGCAGGATCTTCTCC 0.637000 4 35 0 0 0.009096 0 0 TTC17 55761 broad.mit.edu 37 11 43513699 43513699 + Missense_Mutation SNP G G T TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr11:43513699G>T ENST00000039989.4 + 23 3294 c.3280G>T c.(3280-3282)Gtc>Ttc p.V1094F NM_018259.5 NP_060729.2 Q96AE7 TTC17_HUMAN tetratricopeptide repeat domain 17 1094 binding breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3) 53 TCTGGGCAATGTCTACGTGGC 0.478000 9 86 1.12685e-05 1.2408e-05 0.004482 1 0 SNX15 29907 broad.mit.edu 37 11 64802351 64802351 + Nonsense_Mutation SNP C C T TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr11:64802351C>T ENST00000377244.3 + 4 419 c.289C>T c.(289-291)Cga>Tga p.R97* SNX15_ENST00000301886.3_3'UTR NM_013306.4|NM_147777.3 NP_037438.2|NP_680086.2 Q9NRS6 SNX15_HUMAN sorting nexin 15 97 PX. cell communication|intracellular protein transport cytoplasmic vesicle membrane|cytosol phosphatidylinositol binding|protein transporter activity p.R97*(1) endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 14 CGAGGAGCGGCGAAAGGGGGC 0.622000 4 48 0 0 0.001168 0 0 NOTCH1 4851 broad.mit.edu 37 9 139412242 139412242 + Missense_Mutation SNP A A C TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr9:139412242A>C ENST00000277541.6 - 8 1478 c.1403T>G c.(1402-1404)cTg>cGg p.L468R NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 468 EGF-like 12; calcium-binding (Potential). aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) AATCTGGTCCAGGCAGGTGGC 0.672000 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 9 56 0 0 0.000978 0 0 EVC 2121 broad.mit.edu 37 4 5750014 5750014 + Missense_Mutation SNP C C T TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr4:5750014C>T ENST00000382674.2 + 8 1263 c.1079C>T c.(1078-1080)tCt>tTt p.S360F EVC_ENST00000264956.6_Missense_Mutation_p.S360F|EVC_ENST00000509451.1_Missense_Mutation_p.S360F P57679 EVC_HUMAN Ellis van Creveld syndrome 360 muscle organ development integral to membrane NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1) 28 Myeloproliferative disorder(84;0.117) TTGTGCGATTCTCAGGAGCTG 0.488000 3 36 0 0 0.004672 0 0 LVRN 206338 broad.mit.edu 37 5 115327924 115327924 + Missense_Mutation SNP G G A TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr5:115327924G>A ENST00000357872.4 + 5 1334 c.1210G>A c.(1210-1212)Gaa>Aaa p.E404K AQPEP_ENST00000395528.2_5'UTR NM_173800.4 NP_776161.3 Q6Q4G3 AMPQ_HUMAN 404 proteolysis integral to membrane metallopeptidase activity|zinc ion binding TCAACTGACAGAAAAAAAGAC 0.388000 5 84 0 0 0.000602 0 0 ZNF668 79759 broad.mit.edu 37 16 31075507 31075507 + Missense_Mutation SNP C C G TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr16:31075507C>G ENST00000538906.1 - 2 1058 c.274G>C c.(274-276)Gcc>Ccc p.A92P ZNF668_ENST00000539836.3_Missense_Mutation_p.A115P|ZNF668_ENST00000535577.1_Missense_Mutation_p.A92P|ZNF668_ENST00000426488.2_Missense_Mutation_p.A115P|ZNF668_ENST00000394983.2_Missense_Mutation_p.A92P|ZNF668_ENST00000300849.4_Missense_Mutation_p.A92P NM_001172668.1 NP_001166139.1 Q96K58 ZN668_HUMAN zinc finger protein 668 92 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 27 GTCTTGTAGGCCTTGGGGCAT 0.667000 5 38 0 0 0.001168 0 0 ALDH5A1 7915 broad.mit.edu 37 6 24523069 24523069 + Silent SNP C C T TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr6:24523069C>T ENST00000357578.3 + 7 1234 c.1089C>T c.(1087-1089)gcC>gcT p.A363A ALDH5A1_ENST00000491546.1_Silent_p.A335A|ALDH5A1_ENST00000546278.1_Silent_p.A275A|ALDH5A1_ENST00000348925.2_Silent_p.A376A NM_001080.3 NP_001071.1 P51649 SSDH_HUMAN aldehyde dehydrogenase 5 family, member A1 363 acetate metabolic process|central nervous system development|galactosylceramide metabolic process|gamma-aminobutyric acid catabolic process|glucose metabolic process|glutamate metabolic process|glutamine metabolic process|glutathione metabolic process|glycerophospholipid metabolic process|neurotransmitter catabolic process|neurotransmitter secretion|protein homotetramerization|respiratory electron transport chain|short-chain fatty acid metabolic process|succinate metabolic process mitochondrial matrix|soluble fraction succinate-semialdehyde dehydrogenase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|skin(2)|urinary_tract(1) 20 Chlormerodrin(DB00534)|NADH(DB00157)|Succinic acid(DB00139) TCGCCGAGGCCATGAAGAAGA 0.428000 10 106 0 0 0.006214 0 0 APCDD1L 164284 broad.mit.edu 37 20 57035940 57035940 + Missense_Mutation SNP G G A rs147052922 byFrequency TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr20:57035940G>A ENST00000371149.3 - 4 1642 c.1412C>T c.(1411-1413)tCg>tTg p.S471L APCDD1L_ENST00000439429.1_Missense_Mutation_p.S482L NM_153360.1 NP_699191.1 Q8NCL9 APCDL_HUMAN adenomatosis polyposis coli down-regulated 1-like 471 integral to membrane large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(1) 18 Lung NSC(12;0.000856)|all_lung(29;0.0025) BRCA - Breast invasive adenocarcinoma(13;5.6e-11)|Epithelial(14;1.67e-07)|all cancers(14;1.48e-06) CTTCTGCAGCGATGGCCTGTG 0.627000 4 63 0 0 0.001168 0 0 HCFC1 3054 broad.mit.edu 37 X 153215722 153215722 + Silent SNP G G C TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chrX:153215722G>C ENST00000310441.7 - 24 6942 c.5976C>G c.(5974-5976)ggC>ggG p.G1992G HCFC1_ENST00000369984.4_Silent_p.G2037G|HCFC1_ENST00000354233.3_Silent_p.G1923G NM_005334.2 NP_005325.2 P51610 HCFC1_HUMAN host cell factor C1 (VP16-accessory protein) 1992 cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GTGTGGCCGGGCCATAGCCCT 0.632000 7 32 0 0 0.004482 0 0 PCDHA7 56141 broad.mit.edu 37 5 140214357 140214357 + Missense_Mutation SNP C C G TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr5:140214357C>G ENST00000525929.1 + 1 389 c.389C>G c.(388-390)cCt>cGt p.P130R PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.P130R|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron NM_018910.2 NP_061733.1 NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AACGACAACCCTCCGGTGTTC 0.592000 8 184 0 0 0.003080 0 0 PRDM1 639 broad.mit.edu 37 6 106553695 106553695 + Missense_Mutation SNP A A G TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr6:106553695A>G ENST00000369096.4 + 5 1894 c.1660A>G c.(1660-1662)Aga>Gga p.R554G PRDM1_ENST00000369089.3_Missense_Mutation_p.R420G|PRDM1_ENST00000369091.2_Missense_Mutation_p.R518G NM_001198.3 NP_001189.2 O75626 PRDM1_HUMAN PR domain containing 1, with ZNF domain 554 negative regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2) 94 Breast(9;0.022) all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365) all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05) TAAAAACAAAAGAAACATGAC 0.537000 """D, N, Mis, F, S""" DLBCL 4 50 0 0 0.009096 0 0 RASA1 5921 broad.mit.edu 37 5 86659189 86659189 + Nonsense_Mutation SNP T T A TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr5:86659189T>A ENST00000456692.2 + 11 1062 c.947T>A c.(946-948)tTa>tAa p.L316* RASA1_ENST00000506290.1_Nonsense_Mutation_p.L327*|RASA1_ENST00000274376.6_Nonsense_Mutation_p.L493*|RASA1_ENST00000512763.1_Nonsense_Mutation_p.L326* NM_022650.2 NP_072179.1 P20936 RASA1_HUMAN RAS p21 protein activator (GTPase activating protein) 1 493 SH3. cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis cytosol|intrinsic to internal side of plasma membrane glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 48 all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423) OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31) TGGAAAAATTTATATTTTATC 0.289000 10 33 0 0 0.008291 0 0 KIF14 9928 broad.mit.edu 37 1 200587425 200587425 + Missense_Mutation SNP T T C TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr1:200587425T>C ENST00000367350.4 - 2 865 c.427A>G c.(427-429)Atg>Gtg p.M143V NM_014875.2 NP_055690.1 Q15058 KIF14_HUMAN kinesin family member 14 143 Required for PRC1-binding. microtubule-based movement cytoplasm|microtubule|nucleus|spindle ATP binding|microtubule motor activity|protein binding NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1) 61 TTCAGTGTCATTTTGACAGAA 0.348000 5 58 0 0 0.000602 0 0 TTC13 79573 broad.mit.edu 37 1 231061288 231061288 + Silent SNP G G A TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr1:231061288G>A ENST00000366661.4 - 13 1570 c.1563C>T c.(1561-1563)ttC>ttT p.F521F TTC13_ENST00000366662.4_Silent_p.F468F|TTC13_ENST00000414259.1_Silent_p.F468F NM_024525.4 NP_078801.3 Q8NBP0 TTC13_HUMAN tetratricopeptide repeat domain 13 521 binding central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 39 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.167) COAD - Colon adenocarcinoma(196;0.243) TGTTTGGCAGGAAACCAGGTG 0.408000 6 62 0 0 0.001984 0 0 SPEN 23013 broad.mit.edu 37 1 16260533 16260533 + Missense_Mutation SNP G G A TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr1:16260533G>A ENST00000375759.3 + 11 8002 c.7798G>A c.(7798-7800)Gag>Aag p.E2600K NM_015001.2 NP_055816.2 Q96T58 MINT_HUMAN spen family transcriptional repressor 2600 RID. interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 149 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) ACAAGCCTCGGAGGTGCTGGT 0.498000 12 113 0 0 0.001855 0 0 ABCA2 20 broad.mit.edu 37 9 139906446 139906446 + Silent SNP G G A TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr9:139906446G>A ENST00000265662.5 - 35 5532 c.5385C>T c.(5383-5385)atC>atT p.I1795I ABCA2_ENST00000341511.6_Silent_p.I1795I|ABCA2_ENST00000371605.3_Silent_p.I1794I Q9BZC7 ABCA2_HUMAN ATP-binding cassette, sub-family A (ABC1), member 2 1794 cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center ATP binding|ATPase activity, coupled to transmembrane movement of substances central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 41 all_cancers(76;0.16) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048) TGAAGATGGCGATGACGACAT 0.637000 4 48 0 0 0.009096 0 0 DNMBP 23268 broad.mit.edu 37 10 101657950 101657950 + Missense_Mutation SNP T T A TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr10:101657950T>A ENST00000342239.3 - 9 2904 c.2813A>T c.(2812-2814)aAt>aTt p.N938I DNMBP_ENST00000543621.1_Missense_Mutation_p.N184I|DNMBP_ENST00000540316.1_5'UTR|DNMBP_ENST00000324109.4_Missense_Mutation_p.N938I Q6XZF7 DNMBP_HUMAN dynamin binding protein 938 DH. intracellular signal transduction|regulation of Rho protein signal transduction cell junction|cytoskeleton|Golgi stack|synapse protein binding|Rho guanyl-nucleotide exchange factor activity central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 61 Colorectal(252;0.234) Epithelial(162;2.94e-10)|all cancers(201;3.15e-08) TGGGGTGGAATTCAGCAACTC 0.438000 11 73 0 0 0.001855 0 0 GADD45GIP1 90480 broad.mit.edu 37 19 13065144 13065144 + Missense_Mutation SNP C C T TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr19:13065144C>T ENST00000316939.1 - 2 570 c.547G>A c.(547-549)Gag>Aag p.E183K NM_052850.2 NP_443082.2 Q8TAE8 G45IP_HUMAN growth arrest and DNA-damage-inducible, gamma interacting protein 1 183 cell cycle|interspecies interaction between organisms nucleus protein binding ovary(2)|prostate(1)|skin(1) 4 TCCTTCTTCTCTAGGTCCTGG 0.627000 6 101 0 0 0.001984 0 0 ATP10A 57194 broad.mit.edu 37 15 26026297 26026297 + Missense_Mutation SNP C C T TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr15:26026297C>T ENST00000356865.6 - 2 634 c.523G>A c.(523-525)Gaa>Aaa p.E175K NM_024490.3 NP_077816.1 O60312 AT10A_HUMAN ATPase, class V, type 10A 175 ATP biosynthetic process|regulation of cell shape integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity p.E175K(1) NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 103 all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125) all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244) GGGAAGATTTCGTTGCAGCGA 0.498000 3 33 0 0 0.004672 0 0 PRICKLE3 4007 broad.mit.edu 37 X 49032203 49032203 + Nonsense_Mutation SNP G G T TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chrX:49032203G>T ENST00000376317.3 - 9 1761 c.1667C>A c.(1666-1668)tCa>tAa p.S556* PRICKLE3_ENST00000538114.1_Nonsense_Mutation_p.S380*|PRICKLE3_ENST00000540849.1_Nonsense_Mutation_p.S488*|PRICKLE3_ENST00000536904.1_Nonsense_Mutation_p.S475* NM_006150.3 NP_006141.2 O43900 PRIC3_HUMAN prickle homolog 3 (Drosophila) 556 Poly-Ser. protein binding|zinc ion binding breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|skin(2) 22 ATCCTCTGATGATTCGGAACT 0.577000 15 75 1.15088e-07 1.28166e-07 0.004007 1 0 PLEKHG4B 153478 broad.mit.edu 37 5 171485 171485 + Missense_Mutation SNP G G A TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr5:171485G>A ENST00000283426.6 + 14 2958 c.2908G>A c.(2908-2910)Gcc>Acc p.A970T NM_052909.3 NP_443141.3 Q96PX9 PKH4B_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 4B 970 DH. regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3) 11 all cancers(22;0.0253)|Lung(60;0.113) Kidney(1;0.119) GCTCCGAGCCGCCGAGGTCGT 0.677000 4 28 0 0 0.003080 0 0 DSCAML1 57453 broad.mit.edu 37 11 117335745 117335745 + Missense_Mutation SNP C C T TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr11:117335745C>T ENST00000321322.6 - 17 3359 c.3358G>A c.(3358-3360)Gcc>Acc p.A1120T DSCAML1_ENST00000527706.1_Missense_Mutation_p.A850T NM_020693.2 NP_065744.2 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 1060 Fibronectin type-III 3. axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 110 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) CCATACTGGGCGAACTTCTTG 0.622000 6 92 0 0 0.001984 0 0 PIK3R1 5295 broad.mit.edu 37 5 67589628 67589628 + Missense_Mutation SNP A A T TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr5:67589628A>T ENST00000521381.1 + 11 2007 c.1391A>T c.(1390-1392)gAt>gTt p.D464V PIK3R1_ENST00000396611.1_Missense_Mutation_p.D464V|PIK3R1_ENST00000523872.1_Missense_Mutation_p.D101V|PIK3R1_ENST00000274335.5_Missense_Mutation_p.D464V|PIK3R1_ENST00000320694.8_Missense_Mutation_p.D164V|PIK3R1_ENST00000336483.5_Missense_Mutation_p.D194V|PIK3R1_ENST00000521657.1_Missense_Mutation_p.D464V NM_181523.2 NP_852664.1 P27986 P85A_HUMAN phosphoinositide-3-kinase, regulatory subunit 1 (alpha) 464 epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex 1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding p.Y463_L466del(1)|p.E462_R465delEYDR(1)|p.0?(1)|p.?(1) breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 178 Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176) OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211) Isoproterenol(DB01064) CGAGAATATGATAGATTATAT 0.294000 """Mis, F, O""" """gliobastoma, ovarian, colorectal""" TCGA GBM(4;<1E-08) 9 54 0 0 0.000978 0 0 SYNE1 23345 broad.mit.edu 37 6 152722368 152722368 + Missense_Mutation SNP A A G rs138004884 byFrequency TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr6:152722368A>G ENST00000367255.5 - 47 7535 c.6934T>C c.(6934-6936)Ttt>Ctt p.F2312L SYNE1_ENST00000265368.4_Missense_Mutation_p.F2312L|SYNE1_ENST00000341594.5_Missense_Mutation_p.F2349L|SYNE1_ENST00000423061.1_Missense_Mutation_p.F2319L|SYNE1_ENST00000448038.1_Missense_Mutation_p.F2319L NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 2312 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TCATTAATAAACTTCTCCACT 0.393000 HNSCC(10;0.0054) 4 66 0 0 0.009096 0 0 HAPLN1 1404 broad.mit.edu 37 5 82948498 82948498 + Silent SNP G G T TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr5:82948498G>T ENST00000274341.4 - 3 1096 c.246C>A c.(244-246)acC>acA p.T82T HAPLN1_ENST00000514416.1_Silent_p.T82T NM_001884.3 NP_001875.1 P10915 HPLN1_HUMAN hyaluronan and proteoglycan link protein 1 82 Ig-like V-type. cell adhesion proteinaceous extracellular matrix hyaluronic acid binding breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1) 34 Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29) AAGTTAGCTTGGTCCACTTAA 0.423000 5 97 1.6384e-10 1.84555e-10 0.001984 1 0 TENC1 23371 broad.mit.edu 37 12 53455639 53455639 + Silent SNP G G A TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr12:53455639G>A ENST00000314250.6 + 22 3779 c.3489G>A c.(3487-3489)ctG>ctA p.L1163L TENC1_ENST00000314276.3_Silent_p.L1173L|TENC1_ENST00000546602.1_Silent_p.L1066L|TENC1_ENST00000552570.1_Silent_p.L1163L|TENC1_ENST00000549700.1_Silent_p.L1098L|TENC1_ENST00000451358.1_Silent_p.L1153L|TENC1_ENST00000379902.3_Silent_p.L1039L NM_170754.2 NP_736610.2 Q63HR2 TENC1_HUMAN tensin like C1 domain containing phosphatase (tensin 2) 1163 SH2. intracellular signal transduction|negative regulation of cell proliferation focal adhesion metal ion binding|phosphoprotein phosphatase activity|protein binding central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3) 34 GGGCCTTCCTGATCAGGGACA 0.617000 12 139 0 0 0.001855 0 0 FAM83G 644815 broad.mit.edu 37 17 18882983 18882983 + Missense_Mutation SNP G G T TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr17:18882983G>T ENST00000388995.6 - 4 917 c.694C>A c.(694-696)Ctc>Atc p.L232I SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000395647.2_Intron|FAM83G_ENST00000345041.4_Missense_Mutation_p.L232I|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000317977.6_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.L232I A6ND36 FA83G_HUMAN family with sequence similarity 83, member G 232 central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1) 22 CGCACTCTGAGATTCTGTTTT 0.587000 6 89 0.00448238 0.00482718 0.004482 1 0 TBC1D32 221322 broad.mit.edu 37 6 121600334 121600334 + Missense_Mutation SNP T T C TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr6:121600334T>C ENST00000275159.6 - 15 1665 c.1666A>G c.(1666-1668)Att>Gtt p.I556V TBC1D32_ENST00000398212.2_Missense_Mutation_p.I556V TBC1 domain family, member 32 ACAGATGCAATTCTTGCCAAA 0.328000 5 59 0 0 0.001168 0 0 KLF11 8462 broad.mit.edu 37 2 10186310 10186310 + Missense_Mutation SNP G G A TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr2:10186310G>A ENST00000535335.1 + 2 241 c.25G>A c.(25-27)Gag>Aag p.E9K KLF11_ENST00000540845.1_Missense_Mutation_p.E9K|KLF11_ENST00000305883.1_Missense_Mutation_p.E26K NM_001177718.1 NP_001171189.1 O14901 KLF11_HUMAN Kruppel-like factor 11 26 apoptosis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|regulation of transcription involved in S phase of mitotic cell cycle nucleus sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.133)|OV - Ovarian serous cystadenocarcinoma(76;0.228) GTCCATCCTGGAGAGGAAGCG 0.522000 5 50 0 0 0.000602 0 0 BRWD1 54014 broad.mit.edu 37 21 40568320 40568320 + Silent SNP A A G TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr21:40568320A>G ENST00000342449.3 - 41 6753 c.6675T>C c.(6673-6675)taT>taC p.Y2225Y BRWD1_ENST00000333229.2_Intron|BRWD1_ENST00000380800.3_Intron NM_033656.3 NP_387505.1 Q9NSI6 BRWD1_HUMAN bromodomain and WD repeat domain containing 1 0 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2) 58 Prostate(19;8.44e-08)|all_epithelial(19;0.223) TAGATTTTGCATAGTCCAAAT 0.383000 7 110 0 0 0.001984 0 0 CDKN2A 1029 broad.mit.edu 37 9 21971120 21971120 + Nonsense_Mutation SNP G G A rs121913388 TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr9:21971120G>A ENST00000304494.5 - 2 508 c.238C>T c.(238-240)Cga>Tga p.R80* CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80* NM_000077.4 NP_000068.1 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 80 R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding). cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding p.0?(1315)|p.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) TGCACGGGTCGGGTGAGAGTG 0.726000 R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN) 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 8 11 0 0 0.004482 0 0 COL18A1 80781 broad.mit.edu 37 21 46875807 46875807 + Silent SNP C C T TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr21:46875807C>T ENST00000359759.4 + 1 384 c.363C>T c.(361-363)atC>atT p.I121I COL18A1_ENST00000400337.2_Intron|COL18A1_ENST00000355480.5_Silent_p.I121I P39060 COIA1_HUMAN collagen, type XVIII, alpha 1 121 cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception collagen|extracellular space extracellular matrix structural constituent|metal ion binding|protein binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929) CCAAAGGCATCCGGAGCTTCG 0.642000 8 80 0 0 0.004482 0 0 ZFHX3 463 broad.mit.edu 37 16 72821618 72821618 + Silent SNP A A G rs112443847 TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr16:72821618A>G ENST00000268489.5 - 10 11229 c.10557T>C c.(10555-10557)ggT>ggC p.G3519G ZFHX3_ENST00000397992.5_Silent_p.G2605G|AC004943.1_ENST00000584072.1_RNA NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 3519 Poly-Gly. muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding p.G3519G(3) NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) cgccgccgccaccgccgccgc 0.716000 3 15 0 0 0.009096 0 0 MYH13 8735 broad.mit.edu 37 17 10209914 10209914 + Silent SNP T T C TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr17:10209914T>C ENST00000418404.3 - 36 5491 c.5328A>G c.(5326-5328)gaA>gaG p.E1776E MYH13_ENST00000252172.4_Silent_p.E1776E|MYH13_ENST00000570743.1_Silent_p.E1776E Q9UKX3 MYH13_HUMAN myosin, heavy chain 13, skeletal muscle 1776 muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 TGGTGTCCTGTTCCTTCTTTA 0.577000 9 96 0 0 0.006214 0 0 VAV1 7409 broad.mit.edu 37 19 6829898 6829898 + Missense_Mutation SNP A A T TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr19:6829898A>T ENST00000304076.2 + 14 1461 c.1367A>T c.(1366-1368)gAt>gTt p.D456V VAV1_ENST00000602142.1_Missense_Mutation_p.D456V|VAV1_ENST00000596764.1_Missense_Mutation_p.D424V|VAV1_ENST00000539284.1_Missense_Mutation_p.D359V|VAV1_ENST00000599806.1_Missense_Mutation_p.D401V NM_001258206.1 NP_001245135.1 P15498 VAV_HUMAN vav 1 guanine nucleotide exchange factor 456 PH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation cytosol|plasma membrane metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 62 CAGGTTCGGGATGACTCTTCA 0.552000 4 61 0 0 0.009096 0 0 ZKSCAN3 80317 broad.mit.edu 37 6 28327420 28327420 + Silent SNP G G A TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr6:28327420G>A ENST00000377255.3 + 3 354 c.57G>A c.(55-57)caG>caA p.Q19Q ZKSCAN3_ENST00000252211.2_Silent_p.Q19Q|ZKSCAN3_ENST00000341464.5_Intron NM_001242894.1 NP_001229823.1 Q9BRR0 ZKSC3_HUMAN zinc finger with KRAB and SCAN domains 3 19 positive regulation of transcription, DNA-dependent|viral reproduction nucleus chromatin binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1) 21 CAGAAGACCAGATGGAGCTTC 0.562000 9 98 0 0 0.006214 0 0 FAT1 2195 broad.mit.edu 37 4 187542660 187542660 + Nonsense_Mutation SNP G G A TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr4:187542660G>A ENST00000441802.2 - 10 5289 c.5080C>T c.(5080-5082)Caa>Taa p.Q1694* NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 1694 Cadherin 15. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 ACTGATGATTGACTATGGGCT 0.393000 HNSCC(5;0.00058) 7 49 0 0 0.003080 0 0 CTBS 1486 broad.mit.edu 37 1 85039999 85040007 + In_Frame_Del DEL GCAGCGCCA GCAGCGCCA - rs3217269 TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr1:85039999_85040007delGCAGCGCCA ENST00000370630.4 - 1 140_148 c.92_100delTGGCGCTGC c.(91-102)cgg>c p.LALR31del CTBS_ENST00000477677.1_5'UTR NM_004388.2 NP_004379.1 Q01459 DIAC_HUMAN chitobiase, di-N-acetyl- 31 lysosome cation binding breast(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1) 9 all cancers(265;0.00727)|Epithelial(280;0.0192)|OV - Ovarian serous cystadenocarcinoma(397;0.166) GCCGCGAGCCgcagcgccagcagcgccag 0.718 2 4 --- --- --- --- EIF4G1 1981 broad.mit.edu 37 3 184045767 184045767 + Frame_Shift_Del DEL G G - TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr3:184045767delG ENST00000342981.4 + 25 4347 c.3933delG c.(3931-3933)ctfs p.L1311fs EIF4G1_ENST00000441154.1_Frame_Shift_Del_p.L1147fs|EIF4G1_ENST00000435046.2_Frame_Shift_Del_p.L1114fs|EIF4G1_ENST00000411531.1_Frame_Shift_Del_p.L1271fs|EIF4G1_ENST00000319274.6_Frame_Shift_Del_p.L1310fs|EIF4G1_ENST00000392537.2_Frame_Shift_Del_p.L1223fs|EIF4G1_ENST00000346169.2_Frame_Shift_Del_p.L1310fs|EIF4G1_ENST00000424196.1_Frame_Shift_Del_p.L1317fs|EIF4G1_ENST00000434061.2_Frame_Shift_Del_p.L1115fs|EIF4G1_ENST00000382330.3_Frame_Shift_Del_p.L1317fs|EIF4G1_ENST00000352767.3_Frame_Shift_Del_p.L1317fs|EIF4G1_ENST00000414031.1_Frame_Shift_Del_p.L1270fs|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000427845.1_Frame_Shift_Del_p.L1224fs|EIF4G1_ENST00000350481.5_Frame_Shift_Del_p.L1146fs NM_182917.4 NP_886553.3 Q04637 IF4G1_HUMAN eukaryotic translation initiation factor 4 gamma, 1 1310 MI. insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 75 all_cancers(143;1.06e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) CTGGGCATCTGTCTACTGCTC 0.537 7 113 --- --- --- --- RP11-51O6.1 0 broad.mit.edu 37 16 61089300 61089303 + RNA DEL TTCT TTCT - rs80101907 TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr16:61089300_61089303delTTCT ENST00000591758.1 - 0 565_566 TAGCttcttcttcttttttttttt 0.240 6 11 --- --- --- --- LOC101927755 101927755 broad.mit.edu 37 17 58066608 58066608 + RNA DEL T T - TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4550d39-4f32-48ab-b049-2fe623332d07 b2e7e876-1d03-4a50-bfb4-1e5865600181 g.chr17:58066608delT ENST00000586209.1 + 0 158 TTGATTGTGATTTTTTTTTTT 0.313 2 4 --- --- --- ---