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 ENST00000376389.3 - 8 931 c.711C>G c.(709-711)gcC>gcG p.A237A FLOT1_ENST00000456573.2_Silent_p.A189A|FLOT1_ENST00000470643.1_5'UTR NM_005803.2 NP_005794.1 O75955 FLOT1_HUMAN flotillin 1 237 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 0.021553 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 ENST00000370728.1 + 18 3399 c.2754C>G c.(2752-2754)caC>caG p.H918Q LPHN2_ENST00000394879.1_Missense_Mutation_p.H905Q|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000319517.6_Missense_Mutation_p.H905Q|LPHN2_ENST00000335786.5_Missense_Mutation_p.H918Q|LPHN2_ENST00000370721.1_Missense_Mutation_p.H843Q|LPHN2_ENST00000370717.2_Missense_Mutation_p.H918Q|LPHN2_ENST00000370723.1_Missense_Mutation_p.H905Q|LPHN2_ENST00000370725.1_Missense_Mutation_p.H918Q|LPHN2_ENST00000370727.1_Missense_Mutation_p.H918Q|LPHN2_ENST00000370713.1_Missense_Mutation_p.H905Q|LPHN2_ENST00000359929.3_Missense_Mutation_p.H905Q|LPHN2_ENST00000271029.4_Missense_Mutation_p.H918Q|LPHN2_ENST00000370730.1_Missense_Mutation_p.H918Q|LPHN2_ENST00000370715.1_Missense_Mutation_p.H905Q O95490 LPHN2_HUMAN latrophilin 2 918 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 0.045515 0 0 ZNF733P 0 broad.mit.edu 37 7 62752443 62752443 + RNA 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.chr7:62752443G>C ENST00000331425.6 - 0 992 NR_003952.1 CTTATGTCTAGTAAGGTTTGA 0.438000 4 41 0 0 0.009096 0 0 LRIG3 121227 broad.mit.edu 37 12 59274443 59274443 + 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.chr12:59274443G>A ENST00000320743.3 - 13 2007 c.1721C>T c.(1720-1722)gCc>gTc p.A574V LRIG3_ENST00000379141.4_Missense_Mutation_p.A514V NM_153377.4 NP_700356.2 Q6UXM1 LRIG3_HUMAN leucine-rich repeats and immunoglobulin-like domains 3 574 Ig-like C2-type 1. integral to membrane p.A574V(1) LRIG3/ROS1(2) breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 GBM - Glioblastoma multiforme(1;1.17e-18) CCCCTCACTGGCAAATTCCAC 0.478000 T ROS1 NSCLC 3 49 0 0 0.009096 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 ENST00000242375.3 + 7 864 c.822C>T c.(820-822)agC>agT p.S274S AKR1D1_ENST00000411726.2_Silent_p.S233S|AKR1D1_ENST00000432161.1_Silent_p.S274S|AKR1D1_ENST00000468877.2_3'UTR NM_005989.3 NP_005980.1 P51857 AK1D1_HUMAN aldo-keto reductase family 1, member D1 274 androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|C21-steroid hormone metabolic 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 0.029380 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 ENST00000326258.1 + 1 153 c.153G>A c.(151-153)gtG>gtA p.V51V NM_001005280.1 NP_001005280.1 Q8NGE5 O10A7_HUMAN olfactory receptor, family 10, subfamily A, member 7 51 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.V51V(1) endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3) 24 TTACCAGTGTGGATCTCGCAC 0.398000 7 266 0 0 0.008291 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 ENST00000296129.1 - 6 1449 c.1315C>T c.(1315-1317)Ctg>Ttg p.L439L NM_022842.3 NP_073753.3 Q9H5V8 CDCP1_HUMAN CUB domain containing protein 1 439 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 0.004482 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 ENST00000278616.4 + 58 8920 c.8535G>T c.(8533-8535)tgG>tgT p.W2845C C11orf65_ENST00000526725.1_Intron|C11orf65_ENST00000525729.1_Intron|ATM_ENST00000452508.2_Missense_Mutation_p.W2845C NM_000051.3 NP_000042.3 Q13315 ATM_HUMAN ataxia telangiectasia mutated 2845 PI3K/PI4K. cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|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 complex binding|protein dimerization activity|protein N-terminus binding p.W2845*(1) 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 1.74666e-38 2.4145e-38 0.014410 1 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 ENST00000388768.2 - 2 542 c.216T>A c.(214-216)gaT>gaA p.D72E RUFY2_ENST00000472394.2_5'UTR|RUFY2_ENST00000602465.1_Missense_Mutation_p.D37E|RUFY2_ENST00000399200.2_Missense_Mutation_p.D37E|RUFY2_ENST00000342616.4_Missense_Mutation_p.D37E|RUFY2_ENST00000454950.2_Intron NM_017987.4 NP_060457.4 Q8WXA3 RUFY2_HUMAN RUN and FYVE domain containing 2 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 0.021553 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 ENST00000291574.4 + 7 1105 c.930G>A c.(928-930)ctG>ctA p.L310L NM_003274.4 NP_003265.3 P48553 TPC10_HUMAN trafficking protein particle complex 10 310 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 0.021553 0 0 FRG1B 0 broad.mit.edu 37 20 29628299 29628299 + 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.chr20:29628299A>G ENST00000278882.3 + 6 681 c.301A>G c.(301-303)Agt>Ggt p.S101G FRG1B_ENST00000439954.2_Missense_Mutation_p.S106G|FRG1B_ENST00000358464.4_Missense_Mutation_p.S101G endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 AGAAGCAAAAAGTAAAACAGC 0.363000 3 73 0 0 0.038147 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 ENST00000274341.4 - 4 1573 c.723G>T c.(721-723)tgG>tgT p.W241C NM_001884.3 NP_001875.1 P10915 HPLN1_HUMAN hyaluronan and proteoglycan link protein 1 241 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 0.00010058 0.000135064 0.013537 1 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664743 22664743 + RNA 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.chr22:22664743G>A ENST00000426066.1 + 0 924 NR_027293.1 CAGACTAAAGGCAAACAAGGA 0.498000 5 19 0 0 0.014758 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 ENST00000309415.6 + 5 1332 c.1332G>A c.(1330-1332)acG>acA p.T444T NM_001099289.1 NP_001092759.1 Q8TEJ3 SH3R3_HUMAN SH3 domain containing ring finger 3 444 zinc ion binding endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2) 18 CTACCCCCACGGCTGTCCCAC 0.612000 2 3 0 0 0.004672 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 ENST00000361306.1 + 6 910 c.653T>C c.(652-654)aTa>aCa p.I218T EGFL6_ENST00000380602.3_Missense_Mutation_p.I218T NM_001167890.1|NM_015507.3 NP_001161362.1|NP_056322.2 Q8IUX8 EGFL6_HUMAN EGF-like-domain, multiple 6 218 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 0.008871 0 0 MST1L 0 broad.mit.edu 37 1 17083652 17083652 + RNA SNP C C T rs113710576 by1000genomes 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.chr1:17083652C>T ENST00000455405.2 - 0 936 aaatctcaaccttgagtacaa 0.388000 3 22 0 0 0.009096 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 ENST00000372930.4 + 2 647 c.364G>A c.(364-366)Gga>Aga p.G122R TMEM35_ENST00000478351.1_3'UTR NM_021637.2 NP_067650.1 Q53FP2 TMM35_HUMAN transmembrane protein 35 122 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 0.038395 0 0 CCDC178 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 ENST00000383096.3 - 22 2600 c.2418A>G c.(2416-2418)acA>acG p.T806T CCDC178_ENST00000402325.1_Silent_p.T756T|CCDC178_ENST00000579947.1_Silent_p.T806T|CCDC178_ENST00000403303.1_Silent_p.T806T|CCDC178_ENST00000581852.1_Silent_p.T11T|CCDC178_ENST00000406524.2_Silent_p.T830T|CCDC178_ENST00000579916.1_Silent_p.T126T|CCDC178_ENST00000583930.1_Silent_p.T830T|CCDC178_ENST00000300227.8_Silent_p.T768T coiled-coil domain containing 178 CCTGCCACAGTGTGTGCATCC 0.493000 12 19 0 0 0.013537 0 0 AC008103.5 0 broad.mit.edu 37 22 18846025 18846025 + RNA SNP G G C rs5993363 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.chr22:18846025G>C ENST00000412938.1 + 0 3383 GACGTTGAAGGCTGCCTTCAG 0.647000 3 30 0 0 0.009096 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 ENST00000254846.5 + 11 3040 c.2651C>T c.(2650-2652)gCg>gTg p.A884V KDM6B_ENST00000448097.2_Missense_Mutation_p.A884V NM_001080424.1 NP_001073893.1 O15054 KDM6B_HUMAN lysine (K)-specific demethylase 6B 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 0.004672 0 0 RRN3P2 0 broad.mit.edu 37 16 29110458 29110458 + RNA SNP T T C rs151074589 by1000genomes 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.chr16:29110458T>C ENST00000564580.1 + 0 1131 p.W375R(25) GAATTTTGAGTGGATAGTGAT 0.328000 3 38 0 0 0.004672 0 0 STRC 161497 broad.mit.edu 37 15 43896265 43896265 + Missense_Mutation 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.chr15:43896265T>C ENST00000450892.2 - 22 4381 c.4304A>G c.(4303-4305)gAg>gGg p.E1435G STRC_ENST00000541030.1_Missense_Mutation_p.E662G NM_153700.2 NP_714544.1 Q7RTU9 STRC_HUMAN stereocilin 1435 sensory perception of sound cell surface skin(4) 4 all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.56e-07) AAGCTGTGGCTCCCTACACAG 0.557000 3 22 0 0 0.009096 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 ENST00000262442.3 + 19 3648 c.3580C>G c.(3580-3582)Ctg>Gtg p.L1194V DNAH9_ENST00000454412.2_Missense_Mutation_p.L1194V NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 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 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 0.004672 0 0 RP11-1166P10.6 0 broad.mit.edu 37 16 32070612 32070612 + RNA SNP A A 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.chr16:32070612A>C ENST00000566806.1 - 0 499 GGTCTCCTGCAAGGCTTCTGG 0.552000 3 55 0 0 0.004672 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 ENST00000298229.2 + 15 2013 c.1809C>T c.(1807-1809)ttC>ttT p.F603F INPPL1_ENST00000538751.1_Silent_p.F361F|INPPL1_ENST00000541756.1_Silent_p.F361F NM_001567.3 NP_001558.3 O15357 SHIP2_HUMAN inositol polyphosphate phosphatase-like 1 603 actin filament organization|cell adhesion|endocytosis actin cortical patch|cytosol actin binding|SH2 domain binding|SH3 domain 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 0.029380 0 0 DNAJB5 25822 broad.mit.edu 37 9 34997244 34997244 + Silent SNP A A 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.chr9:34997244A>C ENST00000541010.1 + 3 4047 c.1035A>C c.(1033-1035)ctA>ctC p.L345L DNAJB5_ENST00000453597.3_Silent_p.L459L|DNAJB5_ENST00000335998.3_Silent_p.L379L|DNAJB5_ENST00000454002.2_Silent_p.L417L|DNAJB5_ENST00000545841.1_Silent_p.L345L|DNAJB5_ENST00000312316.5_Silent_p.L345L O75953 DNJB5_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 5 345 protein folding|response to unfolded protein heat shock protein binding|unfolded protein binding kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 12 LUSC - Lung squamous cell carcinoma(32;0.00575) AGCAGCACCTACCCTGTTCCT 0.527000 7 49 0 0 0.016723 0 0 ZNF83 55769 broad.mit.edu 37 19 53122295 53122295 + Silent SNP A A G rs11669959 by1000genomes 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.chr19:53122295A>G ENST00000600714.1 - 4 318 c.36T>C c.(34-36)gaT>gaC p.D12D ZNF83_ENST00000601257.1_Silent_p.D12D|ZNF83_ENST00000545872.1_Intron|ZNF83_ENST00000301096.3_Intron|ZNF83_ENST00000597161.1_Silent_p.D12D|ZNF83_ENST00000536937.1_5'UTR|ZNF83_ENST00000598536.1_Intron|ZNF83_ENST00000597597.1_Intron|ZNF83_ENST00000544146.1_5'UTR|ZNF83_ENST00000596930.1_Silent_p.D12D P51522 ZNF83_HUMAN zinc finger protein 83 111 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 18 OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244) CTATGGCCACATCCCTGAATG 0.433000 4 194 0 0 0.008291 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 ENST00000382100.2 + 2 544 c.188A>G c.(187-189)gAt>gGt p.D63G VLDLR_ENST00000382099.2_Missense_Mutation_p.D63G|RP11-125B21.2_ENST00000599229.1_RNA NM_003383.3 NP_003374.3 P98155 VLDLR_HUMAN very low density lipoprotein receptor 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 0.014758 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 ENST00000377707.3 - 1 852 c.287delA c.(286-288)tcfs p.Y96fs RP11-613M10.9_ENST00000540557.1_Frame_Shift_Del_p.Y96fs|SHB_ENST00000377700.4_Frame_Shift_Del_p.Y96fs NM_003028.2 NP_003019.2 Q15464 SHB_HUMAN Src homology 2 domain containing adaptor protein B 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 --- --- --- --- KIAA1462 57608 broad.mit.edu 37 10 30316501 30316503 + In_Frame_Del DEL CTG CTG - 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.chr10:30316501_30316503delCTG ENST00000375377.1 - 3 2675_2677 c.2574_2576delCAG c.(2572-2577)agt>ag p.SS858del NM_020848.2 NP_065899.1 Q9P266 K1462_HUMAN KIAA1462 858 Ser-rich. breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 75 ACTCTCCTCActgctgctgctgc 0.571 7 101 --- --- --- --- RP13-726E6.2 0 broad.mit.edu 37 11 3552650 3552651 + RNA INS - - G rs34642454 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.chr11:3552650_3552651insG ENST00000527970.1 - 0 285 CAGCACCCCATGGGGGGGCCCT 0.500 5 10 --- --- --- --- CD3EAP 10849 broad.mit.edu 37 19 45911859 45911861 + In_Frame_Del DEL GAA GAA - 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.chr19:45911859_45911861delGAA ENST00000309424.3 + 3 1121_1123 c.633_635delGAA c.(631-636)cgg>cg p.RK211del CD3EAP_ENST00000589804.1_In_Frame_Del_p.RK213del|ERCC1_ENST00000300853.3_3'UTR|ERCC1_ENST00000423698.2_3'UTR NM_012099.1 NP_036231.1 O15446 RPA34_HUMAN CD3e molecule, epsilon associated protein 211 rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway chromosome|RNA polymerase I transcription factor complex DNA-directed RNA polymerase activity breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1) 11 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0251) TGGATGTGCGGAAGAAGAAGAAG 0.581 9 166 --- --- --- --- FTX 0 broad.mit.edu 37 X 73506653 73506654 + RNA INS - - A rs149262205 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:73506653_73506654insA ENST00000429124.1 - 0 174 acctgtcccttaaaaaaaaaaa 0.455 6 3 --- --- --- ---