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 FLOT1 10211 broad.mit.edu 37 6 30707947 30707947 + Silent SNP G G C TCGA-EM-A1YC-01A-11D-A14W-08 TCGA-EM-A1YC-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx eefaed71-8639-4351-aef8-a4e53835547b 597d2773-4613-4818-80c9-87ef2c6d2bc8 g.chr6:30707947G>C uc003nrm.3 - 7 875 c.711C>G c.(709-711)gcC>gcG p.A237A FLOT1_uc011dmr.2_Silent_p.A189A NM_005803 NP_005794 O75955 FLOT1_HUMAN Homo sapiens flotillin 1 (FLOT1), mRNA. 237 centriolar satellite|endosome|integral to membrane|melanosome|membrane fraction breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1) 13 GAAGCTGATAGGCCAGGTCAG 0.557000 5 23 0 0 1 0 0 ATM 472 broad.mit.edu 37 11 108216586 108216586 + Missense_Mutation SNP G G T TCGA-EM-A1YC-01A-11D-A14W-08 TCGA-EM-A1YC-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx eefaed71-8639-4351-aef8-a4e53835547b 597d2773-4613-4818-80c9-87ef2c6d2bc8 g.chr11:108216586G>T uc001pkb.1 + 57 8920 c.8535G>T c.(8533-8535)tgG>tgT p.W2845C ATM_uc009yxr.1_Missense_Mutation_p.W2845C|C11orf65_uc010rvx.1_Intron|C11orf65_uc009yxu.2_Intron|ATM_uc001pke.2_Missense_Mutation_p.W1497C NM_000051 NP_000042 Q13315 ATM_HUMAN Homo sapiens ataxia telangiectasia mutated (ATM), mRNA. 2845 PI3K/PI4K. DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2/M transition DNA damage checkpoint|cell cycle arrest|cellular response to gamma radiation|double-strand break repair via homologous recombination|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein N-terminus binding|protein complex binding|protein dimerization activity p.W2845*(2) NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 448 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) CAGCTATTTGGTTTGAGAAGC 0.373000 """D, Mis, N, F, S""" T-PLL """leukemia, lymphoma, medulloblastoma, glioma""" Genes defective in diseases associated with sensitivity to DNA damaging agents Ataxia Telangiectasia TSP Lung(14;0.12) 98 80 0 0 1 0 0 RUFY2 55680 broad.mit.edu 37 10 70164495 70164495 + Missense_Mutation SNP A A T TCGA-EM-A1YC-01A-11D-A14W-08 TCGA-EM-A1YC-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx eefaed71-8639-4351-aef8-a4e53835547b 597d2773-4613-4818-80c9-87ef2c6d2bc8 g.chr10:70164495A>T uc001job.3 - 1 543 c.216T>A c.(214-216)gaT>gaA p.D72E RUFY2_uc001jnz.1_Non-coding_Transcript|RUFY2_uc001joc.3_Missense_Mutation_p.D37E|RUFY2_uc010qiw.2_Intron|RUFY2_uc001jod.1_Missense_Mutation_p.D37E|RUFY2_uc009xpv.1_5'UTR|RUFY2_uc001joe.1_Missense_Mutation_p.D37E NM_017987 NP_060457 Q8WXA3 RUFY2_HUMAN Homo sapiens RUN and FYVE domain containing 2 (RUFY2), transcript variant 1, mRNA. 86 nucleus metal ion binding NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2) 20 GATAGTCAGAATCCAAAGTGC 0.393000 6 88 0 0 1 0 0 AKR1D1 6718 broad.mit.edu 37 7 137792293 137792293 + Silent SNP C C T TCGA-EM-A1YC-01A-11D-A14W-08 TCGA-EM-A1YC-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx eefaed71-8639-4351-aef8-a4e53835547b 597d2773-4613-4818-80c9-87ef2c6d2bc8 g.chr7:137792293C>T uc003vtz.3 + 6 909 c.822C>T c.(820-822)agC>agT p.S274S AKR1D1_uc011kqf.2_Silent_p.S233S|AKR1D1_uc011kqe.1_Silent_p.S274S|AKR1D1_uc010lmy.1_Non-coding_Transcript NM_005989 NP_005980 P51857 AK1D1_HUMAN Homo sapiens aldo-keto reductase family 1, member D1 (delta 4-3-ketosteroid-5-beta-reductase) (AKR1D1), transcript variant 1, mRNA. 274 C21-steroid hormone metabolic process|androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|cholesterol catabolic process|digestion cytosol aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 23 TTCCTAAAAGCTTTAATCTTG 0.358000 7 150 0 0 1 0 0 LPHN2 23266 broad.mit.edu 37 1 82436030 82436030 + Missense_Mutation SNP C C G TCGA-EM-A1YC-01A-11D-A14W-08 TCGA-EM-A1YC-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx eefaed71-8639-4351-aef8-a4e53835547b 597d2773-4613-4818-80c9-87ef2c6d2bc8 g.chr1:82436030C>G uc001dit.4 + 14 2896 c.2715C>G c.(2713-2715)caC>caG p.H905Q LPHN2_uc001dis.3_Intron|LPHN2_uc001diu.3_Missense_Mutation_p.H905Q|LPHN2_uc001div.3_Missense_Mutation_p.H905Q|LPHN2_uc009wcd.3_Missense_Mutation_p.H905Q|LPHN2_uc001diw.3_Missense_Mutation_p.H489Q|LPHN2_uc009wce.1_5'UTR NM_012302 NP_036434 O95490 LPHN2_HUMAN Homo sapiens latrophilin 2 (LPHN2), mRNA. 918 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 119 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) GACTTCTACACTTTTTCTTTT 0.353000 43 69 0 0 1 0 0 SUV420H1 51111 broad.mit.edu 37 11 67925581 67925581 + Missense_Mutation SNP G G C TCGA-EM-A1YC-01A-11D-A14W-08 TCGA-EM-A1YC-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx eefaed71-8639-4351-aef8-a4e53835547b 597d2773-4613-4818-80c9-87ef2c6d2bc8 g.chr11:67925581G>C uc001onm.1 - 10 2488 c.2232C>G c.(2230-2232)agC>agG p.S744R SUV420H1_uc009yse.1_Missense_Mutation_p.S330R|SUV420H1_uc001onn.1_Missense_Mutation_p.S572R|SUV420H1_uc009ysf.2_Missense_Mutation_p.S504R NM_017635 NP_060105 Q4FZB7 SV421_HUMAN Homo sapiens suppressor of variegation 4-20 homolog 1 (Drosophila) (SUV420H1), transcript variant 1, mRNA. 744 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 46 TTAACTTGATGCTTATTTTGG 0.368000 4 250 0 0 1 0 0 HAPLN1 1404 broad.mit.edu 37 5 82940234 82940234 + Missense_Mutation SNP C C A TCGA-EM-A1YC-01A-11D-A14W-08 TCGA-EM-A1YC-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx eefaed71-8639-4351-aef8-a4e53835547b 597d2773-4613-4818-80c9-87ef2c6d2bc8 g.chr5:82940234C>A uc003kim.3 - 2 794 c.723G>T c.(721-723)tgG>tgT p.W241C HAPLN1_uc003kin.3_Missense_Mutation_p.W241C NM_001884 NP_001875 P10915 HPLN1_HUMAN Homo sapiens hyaluronan and proteoglycan link protein 1 (HAPLN1), mRNA. 241 Link 1. 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) TATCTTTATCCCAAAATCCGT 0.448000 12 90 0 0 1 0 0 DNAH9 1770 broad.mit.edu 37 17 11584043 11584043 + Missense_Mutation SNP C C G TCGA-EM-A1YC-01A-11D-A14W-08 TCGA-EM-A1YC-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx eefaed71-8639-4351-aef8-a4e53835547b 597d2773-4613-4818-80c9-87ef2c6d2bc8 g.chr17:11584043C>G uc002gne.3 + 18 3648 c.3580C>G c.(3580-3582)Ctg>Gtg p.L1194V DNAH9_uc010coo.3_Missense_Mutation_p.L488V NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA. 1194 Stem (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.E1193E(1) NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) TTTGCAGGAGCTGCCTGAGAA 0.527000 3 20 0 0 1 0 0 INPPL1 3636 broad.mit.edu 37 11 71943766 71943766 + Silent SNP C C T TCGA-EM-A1YC-01A-11D-A14W-08 TCGA-EM-A1YC-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx eefaed71-8639-4351-aef8-a4e53835547b 597d2773-4613-4818-80c9-87ef2c6d2bc8 g.chr11:71943766C>T uc001osf.3 + 14 1956 c.1809C>T c.(1807-1809)ttC>ttT p.F603F INPPL1_uc001osg.3_Silent_p.F361F NM_001567 NP_001558 O15357 SHIP2_HUMAN Homo sapiens inositol polyphosphate phosphatase-like 1 (INPPL1), mRNA. 603 actin filament organization|cell adhesion|endocytosis actin cortical patch|cytosol SH2 domain binding|SH3 domain binding|actin binding breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 CACACCTCTTCTGGTTTGGGG 0.582000 6 93 0 0 1 0 0 C18orf34 374864 broad.mit.edu 37 18 30554616 30554616 + Silent SNP T T C TCGA-EM-A1YC-01A-11D-A14W-08 TCGA-EM-A1YC-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx eefaed71-8639-4351-aef8-a4e53835547b 597d2773-4613-4818-80c9-87ef2c6d2bc8 g.chr18:30554616T>C uc010xbr.1 - 21 2632 c.2490A>G c.(2488-2490)acA>acG p.T830T C18orf34_uc010xbq.1_Non-coding_Transcript|C18orf34_uc010dme.1_Silent_p.T270T|C18orf34_uc002kxn.2_Silent_p.T806T|C18orf34_uc010dmf.1_Silent_p.T126T|C18orf34_uc002kxo.2_Silent_p.T768T|C18orf34_uc002kxp.3_Silent_p.T806T NM_001105528 NP_001098998 Q5BJE1 CR034_HUMAN Homo sapiens chromosome 18 open reading frame 34 (C18orf34), transcript variant 1, mRNA. 806 NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|liver(1)|lung(36)|ovary(3)|pancreas(1)|prostate(2)|skin(2) 65 CCTGCCACAGTGTGTGCATCC 0.493000 12 19 0 0 1 0 0 KDM6B 23135 broad.mit.edu 37 17 7752257 7752257 + Missense_Mutation SNP C C T TCGA-EM-A1YC-01A-11D-A14W-08 TCGA-EM-A1YC-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx eefaed71-8639-4351-aef8-a4e53835547b 597d2773-4613-4818-80c9-87ef2c6d2bc8 g.chr17:7752257C>T uc002giw.1 + 10 3027 c.2651C>T c.(2650-2652)gCg>gTg p.A884V KDM6B_uc002gix.3_Missense_Mutation_p.A186V NM_001080424 NP_001073893 O15054 KDM6B_HUMAN Homo sapiens lysine (K)-specific demethylase 6B (KDM6B), mRNA. 884 Pro-rich. inflammatory response nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5) 37 GAGCGCAGGGCGGGCGAAGAG 0.692000 3 12 0 0 1 0 0 OR10A7 121364 broad.mit.edu 37 12 55614961 55614961 + Silent SNP G G A TCGA-EM-A1YC-01A-11D-A14W-08 TCGA-EM-A1YC-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx eefaed71-8639-4351-aef8-a4e53835547b 597d2773-4613-4818-80c9-87ef2c6d2bc8 g.chr12:55614961G>A uc010spf.2 + 0 153 c.153G>A c.(151-153)gtG>gtA p.V51V NM_001005280 NP_001005280 Q8NGE5 O10A7_HUMAN Homo sapiens olfactory receptor, family 10, subfamily A, member 7 (OR10A7), mRNA. 51 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.V51V(2) endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3) 24 TTACCAGTGTGGATCTCGCAC 0.398000 7 266 0 0 1 0 0 CDCP1 64866 broad.mit.edu 37 3 45135081 45135081 + Silent SNP G G A TCGA-EM-A1YC-01A-11D-A14W-08 TCGA-EM-A1YC-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx eefaed71-8639-4351-aef8-a4e53835547b 597d2773-4613-4818-80c9-87ef2c6d2bc8 g.chr3:45135081G>A uc003com.3 - 5 1450 c.1315C>T c.(1315-1317)Ctg>Ttg p.L439L NM_022842 NP_073753 Q9H5V8 CDCP1_HUMAN Homo sapiens CUB domain containing protein 1 (CDCP1), transcript variant 1, mRNA. 439 CUB. extracellular region|integral to membrane|plasma membrane central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1) 29 BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651) TCCACAGGCAGGTGGAGGATG 0.592000 8 117 0 0 1 0 0 SH3RF3 344558 broad.mit.edu 37 2 110036027 110036027 + Silent SNP G G A TCGA-EM-A1YC-01A-11D-A14W-08 TCGA-EM-A1YC-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx eefaed71-8639-4351-aef8-a4e53835547b 597d2773-4613-4818-80c9-87ef2c6d2bc8 g.chr2:110036027G>A uc010ywt.1 + 4 1332 c.1332G>A c.(1330-1332)acG>acA p.T444T NM_001099289 NP_001092759 Q8TEJ3 SH3R3_HUMAN Homo sapiens SH3 domain containing ring finger 3 (SH3RF3), mRNA. 444 zinc ion binding endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2) 18 CTACCCCCACGGCTGTCCCAC 0.612000 2 3 0 0 1 0 0 EGFL6 25975 broad.mit.edu 37 X 13624630 13624630 + Missense_Mutation SNP T T C rs151014946 byFrequency TCGA-EM-A1YC-01A-11D-A14W-08 TCGA-EM-A1YC-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx eefaed71-8639-4351-aef8-a4e53835547b 597d2773-4613-4818-80c9-87ef2c6d2bc8 g.chrX:13624630T>C uc004cvj.3 + 5 940 c.653T>C c.(652-654)aTa>aCa p.I218T EGFL6_uc004cvi.3_Missense_Mutation_p.I218T|EGFL6_uc011mik.1_Missense_Mutation_p.I119T NM_001167890 NP_001161362 Q8IUX8 EGFL6_HUMAN Homo sapiens EGF-like-domain, multiple 6 (EGFL6), transcript variant 2, mRNA. 218 cell adhesion|cell cycle|cell differentiation|multicellular organismal development basement membrane|extracellular space|membrane calcium ion binding|integrin binding breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)|skin(3) 23 TATGACTGTATAGGTAAGATT 0.398000 17 180 0 0 1 0 0 TRAPPC10 7109 broad.mit.edu 37 21 45483558 45483558 + Silent SNP G G A TCGA-EM-A1YC-01A-11D-A14W-08 TCGA-EM-A1YC-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx eefaed71-8639-4351-aef8-a4e53835547b 597d2773-4613-4818-80c9-87ef2c6d2bc8 g.chr21:45483558G>A uc002zea.3 + 6 1099 c.930G>A c.(928-930)ctG>ctA p.L310L TRAPPC10_uc010gpo.3_Silent_p.L21L NM_003274 NP_003265 P48553 TPC10_HUMAN Homo sapiens trafficking protein particle complex 10 (TRAPPC10), mRNA. 310 vesicle-mediated transport Golgi apparatus|integral to membrane binding|sodium ion transmembrane transporter activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4) 41 GCAGTTACCTGTTCTCTCGCC 0.582000 4 73 0 0 1 0 0 TMEM35 59353 broad.mit.edu 37 X 100349805 100349805 + Missense_Mutation SNP G G A TCGA-EM-A1YC-01A-11D-A14W-08 TCGA-EM-A1YC-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx eefaed71-8639-4351-aef8-a4e53835547b 597d2773-4613-4818-80c9-87ef2c6d2bc8 g.chrX:100349805G>A uc004egw.3 + 1 520 c.364G>A c.(364-366)Gga>Aga p.G122R NM_021637 NP_067650 Q53FP2 TMM35_HUMAN Homo sapiens transmembrane protein 35 (TMEM35), mRNA. 122 cytoplasmic membrane-bounded vesicle|integral to membrane|peroxisomal membrane NS(1)|large_intestine(3)|liver(1)|skin(1)|urinary_tract(1) 7 TCTGGTGTTTGGAATCCTGCT 0.557000 17 131 0 0 1 0 0 VLDLR 7436 broad.mit.edu 37 9 2635558 2635558 + Missense_Mutation SNP A A G TCGA-EM-A1YC-01A-11D-A14W-08 TCGA-EM-A1YC-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx eefaed71-8639-4351-aef8-a4e53835547b 597d2773-4613-4818-80c9-87ef2c6d2bc8 g.chr9:2635558A>G uc003zhk.1 + 1 585 c.188A>G c.(187-189)gAt>gGt p.D63G VLDLR_uc003zhl.1_Missense_Mutation_p.D63G|VLDLR_uc003zhm.1_Non-coding_Transcript NM_003383 NP_003374 P98155 VLDLR_HUMAN Homo sapiens very low density lipoprotein receptor (VLDLR), transcript variant 1, mRNA. 63 LDL-receptor class A 1. cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 24 GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123) GACGGCAGTGATGAAAAGAAC 0.373000 5 140 0 0 1 0 0 SHB 6461 broad.mit.edu 37 9 38068356 38068356 + Frame_Shift_Del DEL T T - TCGA-EM-A1YC-01A-11D-A14W-08 TCGA-EM-A1YC-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx eefaed71-8639-4351-aef8-a4e53835547b 597d2773-4613-4818-80c9-87ef2c6d2bc8 g.chr9:38068356delT uc004aax.3 - 0 855 c.287delA c.(286-288)tacfs p.Y96fs NM_003028 NP_003019 Q15464 SHB_HUMAN Homo sapiens Src homology 2 domain containing adaptor protein B (SHB), mRNA. 96 Mediates interaction with LAT, FAK1, JAK1 and JAK3. angiogenesis|apoptosis|cell differentiation|signal transduction cytoplasm|plasma membrane SH3/SH2 adaptor activity central_nervous_system(2)|endometrium(4)|lung(1)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1) 11 all_epithelial(88;0.122) GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658) AGGCCCGTTGTAGGGGTCCTC 0.706 2 4 --- --- --- ---