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 SPTB 6710 broad.mit.edu 37 14 65268073 65268073 + Silent SNP C C T TCGA-75-6212-01A-11D-1753-08 TCGA-75-6212-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f2af4c9-05a8-4c97-ac2d-af9241b4ea64 20817c66-3be1-4450-8be9-a922838cec1f g.chr14:65268073C>T ENST00000389722.3 - 6 746 c.693G>A c.(691-693)cgG>cgA p.R231R SPTB_ENST00000542895.1_Silent_p.R231R|SPTB_ENST00000389721.5_Silent_p.R231R|SPTB_ENST00000556626.1_Silent_p.R231R|SPTB_ENST00000389720.3_Silent_p.R231R NM_001024858.2 NP_001020029.1 P11277 SPTB1_HUMAN spectrin, beta, erythrocytic 231 Actin-binding.|CH 2. actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton p.R231R(1) breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3) 106 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) CCAGGTTGTGCCGGGCATTGG 0.602000 OREG0022735 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 52 0 0 0.004672 0 0 IGHA2 3494 broad.mit.edu 37 14 106054658 106054658 + RNA SNP T T G rs114771275 by1000genomes TCGA-75-6212-01A-11D-1753-08 TCGA-75-6212-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f2af4c9-05a8-4c97-ac2d-af9241b4ea64 20817c66-3be1-4450-8be9-a922838cec1f g.chr14:106054658T>G ENST00000390539.2 - 0 74 GGACCAGGCATGCGACGACCA 0.622000 3 68 0 0 0.014758 0 0 L1CAM 3897 broad.mit.edu 37 X 153132164 153132164 + Missense_Mutation SNP C C T TCGA-75-6212-01A-11D-1753-08 TCGA-75-6212-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f2af4c9-05a8-4c97-ac2d-af9241b4ea64 20817c66-3be1-4450-8be9-a922838cec1f g.chrX:153132164C>T ENST00000370060.1 - 19 2560 c.2371G>A c.(2371-2373)Gtc>Atc p.V791I L1CAM_ENST00000543994.1_Missense_Mutation_p.V793I|L1CAM_ENST00000538883.1_Missense_Mutation_p.V793I|L1CAM_ENST00000370055.1_Missense_Mutation_p.V786I|L1CAM_ENST00000370057.3_Missense_Mutation_p.V791I|L1CAM_ENST00000361699.4_Missense_Mutation_p.V791I|L1CAM_ENST00000361981.3_Missense_Mutation_p.V786I NM_001278116.1 NP_001265045.1 P32004 L1CAM_HUMAN L1 cell adhesion molecule 791 Fibronectin type-III 2. axon guidance|blood coagulation|cell death|leukocyte migration integral to membrane p.V791I(1) NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) TGGCTGTTGACGGCCTGGACT 0.632000 10 79 0 0 0.069234 0 0 SCML4 256380 broad.mit.edu 37 6 108042097 108042097 + Missense_Mutation SNP C C A TCGA-75-6212-01A-11D-1753-08 TCGA-75-6212-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f2af4c9-05a8-4c97-ac2d-af9241b4ea64 20817c66-3be1-4450-8be9-a922838cec1f g.chr6:108042097C>A ENST00000369022.2 - 5 818 c.609G>T c.(607-609)ttG>ttT p.L203F SCML4_ENST00000369025.2_Missense_Mutation_p.L19F|SCML4_ENST00000479803.1_5'UTR|SCML4_ENST00000369021.3_Missense_Mutation_p.L232F|SCML4_ENST00000369020.3_Missense_Mutation_p.L261F Q8N228 SCML4_HUMAN sex comb on midleg-like 4 (Drosophila) 261 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding p.L232F(2)|p.L261F(2) endometrium(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(1) 25 all_cancers(87;3.26e-06)|Acute lymphoblastic leukemia(125;3.08e-08)|all_hematologic(75;1.15e-06)|all_epithelial(87;0.00142)|Colorectal(196;0.0316) BRCA - Breast invasive adenocarcinoma(108;0.01)|Epithelial(106;0.0509)|all cancers(137;0.0586)|OV - Ovarian serous cystadenocarcinoma(136;0.0758) AGGAGGGGTGCAAGGAGCCCC 0.622000 12 64 0.00010058 0.000113475 0.093190 1 0 OBSCN 84033 broad.mit.edu 37 1 228459865 228459865 + Missense_Mutation SNP G G A TCGA-75-6212-01A-11D-1753-08 TCGA-75-6212-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f2af4c9-05a8-4c97-ac2d-af9241b4ea64 20817c66-3be1-4450-8be9-a922838cec1f g.chr1:228459865G>A ENST00000570156.2 + 20 6003 c.5929G>A c.(5929-5931)Ggg>Agg p.G1977R OBSCN_ENST00000284548.11_Intron|OBSCN_ENST00000422127.1_Intron|RP5-1139B12.2_ENST00000602517.1_RNA|OBSCN_ENST00000366707.4_Intron|OBSCN_ENST00000359599.6_Missense_Mutation_p.G449R|OBSCN_ENST00000366709.4_Intron NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 958 Ig-like 19. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding p.G1885R(1) NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) GGCGGACGCCGGGGAGTACAG 0.647000 5 35 0 0 0.014758 0 0 SP140L 93349 broad.mit.edu 37 2 231222646 231222646 + Silent SNP C C T TCGA-75-6212-01A-11D-1753-08 TCGA-75-6212-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f2af4c9-05a8-4c97-ac2d-af9241b4ea64 20817c66-3be1-4450-8be9-a922838cec1f g.chr2:231222646C>T ENST00000243810.6 + 3 234 c.234C>T c.(232-234)ctC>ctT p.L78L SP140L_ENST00000396563.4_Silent_p.L78L|SP140_ENST00000486687.2_3'UTR|SP140L_ENST00000444636.1_Silent_p.L78L|SP140L_ENST00000415673.2_Silent_p.L78L|SP140L_ENST00000458341.1_5'UTR Q9H930 LY10L_HUMAN SP140 nuclear body protein-like 78 HSR. nucleus DNA binding|metal ion binding p.L78L(2) central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1) 20 TTGAGGGCCTCCGCGATCGGG 0.358000 36 224 0 0 0.104719 0 0 TBL1X 6907 broad.mit.edu 37 X 9661224 9661224 + Silent SNP C C T rs142039049 TCGA-75-6212-01A-11D-1753-08 TCGA-75-6212-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f2af4c9-05a8-4c97-ac2d-af9241b4ea64 20817c66-3be1-4450-8be9-a922838cec1f g.chrX:9661224C>T ENST00000217964.7 + 10 1567 c.927C>T c.(925-927)gaC>gaT p.D309D TBL1X_ENST00000536365.1_Silent_p.D258D|TBL1X_ENST00000407597.2_Silent_p.D309D|TBL1X_ENST00000380961.1_Silent_p.D258D|TBL1X_ENST00000424279.1_Silent_p.D258D NM_005647.3 NP_005638.1 O60907 TBL1X_HUMAN transducin (beta)-like 1X-linked 309 canonical Wnt receptor signaling pathway|cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|sensory perception of sound|transcription, DNA-dependent spindle microtubule|transcriptional repressor complex beta-catenin binding|histone binding|protein C-terminus binding|protein domain specific binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding p.D309D(2) breast(2)|cervix(1)|endometrium(5)|large_intestine(7)|lung(2)|ovary(1)|skin(2) 20 Hepatocellular(5;0.000888) GTTCATATGACGGTTTTGCAA 0.522000 15 103 0 0 0.038395 0 0 PHF21B 112885 broad.mit.edu 37 22 45309828 45309828 + Silent SNP C C T TCGA-75-6212-01A-11D-1753-08 TCGA-75-6212-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f2af4c9-05a8-4c97-ac2d-af9241b4ea64 20817c66-3be1-4450-8be9-a922838cec1f g.chr22:45309828C>T ENST00000313237.5 - 5 855 c.705G>A c.(703-705)caG>caA p.Q235Q PHF21B_ENST00000396103.3_Silent_p.Q193Q|PHF21B_ENST00000404079.2_Silent_p.Q181Q|PHF21B_ENST00000403565.1_Silent_p.Q31Q|PHF21B_ENST00000447824.3_Silent_p.Q181Q NM_138415.4 NP_612424.1 Q96EK2 PF21B_HUMAN PHD finger protein 21B 235 zinc ion binding p.Q235Q(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2) 25 all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731) UCEC - Uterine corpus endometrioid carcinoma (28;0.0203) GCACTTGAGGCTGAATGATGA 0.612000 17 95 0 0 0.049695 0 0 CYP4F8 11283 broad.mit.edu 37 19 15729054 15729054 + RNA SNP C C T TCGA-75-6212-01A-11D-1753-08 TCGA-75-6212-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f2af4c9-05a8-4c97-ac2d-af9241b4ea64 20817c66-3be1-4450-8be9-a922838cec1f g.chr19:15729054C>T ENST00000441682.2 + 0 407 P98187 CP4F8_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 8 prostaglandin metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1) 26 AGTACTCAGCCCCTTCCTTCC 0.537000 3 31 0 0 0.004672 0 0 MRPL39 54148 broad.mit.edu 37 21 26965143 26965143 + Missense_Mutation SNP G G A TCGA-75-6212-01A-11D-1753-08 TCGA-75-6212-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f2af4c9-05a8-4c97-ac2d-af9241b4ea64 20817c66-3be1-4450-8be9-a922838cec1f g.chr21:26965143G>A ENST00000307301.7 - 8 943 c.902C>T c.(901-903)tCt>tTt p.S301F MRPL39_ENST00000352957.4_Missense_Mutation_p.S301F NM_080794.3 NP_542984.2 Q9NYK5 RM39_HUMAN mitochondrial ribosomal protein L39 301 mitochondrial ribosome nucleotide binding p.S301F(2) endometrium(2)|large_intestine(3)|lung(4)|ovary(1) 10 AACAGGTAAAGACACGCCCTG 0.378000 13 54 0 0 0.055883 0 0 TGFBR3 7049 broad.mit.edu 37 1 92177890 92177890 + Missense_Mutation SNP G G T TCGA-75-6212-01A-11D-1753-08 TCGA-75-6212-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f2af4c9-05a8-4c97-ac2d-af9241b4ea64 20817c66-3be1-4450-8be9-a922838cec1f g.chr1:92177890G>T ENST00000212355.4 - 13 2541 c.2076C>A c.(2074-2076)ttC>ttA p.F692L TGFBR3_ENST00000370399.2_Missense_Mutation_p.F691L|TGFBR3_ENST00000525962.1_Missense_Mutation_p.F692L NM_001195683.1|NM_003243.4 NP_001182612.1|NP_003234.2 Q03167 TGBR3_HUMAN transforming growth factor, beta receptor III 692 ZP. BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding p.F692L(1) endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3) 55 all_lung(203;0.00719)|Lung NSC(277;0.0268) all cancers(265;0.0108)|Epithelial(280;0.0825) AGACAGGCTTGAAGACAAAGC 0.473000 8 67 7.48243e-07 8.66386e-07 0.058154 1 0 SSTR4 6754 broad.mit.edu 37 20 23016703 23016703 + Missense_Mutation SNP G G A TCGA-75-6212-01A-11D-1753-08 TCGA-75-6212-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f2af4c9-05a8-4c97-ac2d-af9241b4ea64 20817c66-3be1-4450-8be9-a922838cec1f g.chr20:23016703G>A ENST00000255008.3 + 1 647 c.583G>A c.(583-585)Gcc>Acc p.A195T RP4-753D10.3_ENST00000440921.1_RNA NM_001052.2 NP_001043.2 P31391 SSR4_HUMAN somatostatin receptor 4 195 G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation integral to plasma membrane somatostatin receptor activity p.A195T(1) breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1) 32 Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118) CGGCGGCCAGGCCGTGGCCTG 0.662000 9 30 0 0 0.105934 0 0 FGA 2243 broad.mit.edu 37 4 155508070 155508070 + Splice_Site SNP C C T TCGA-75-6212-01A-11D-1753-08 TCGA-75-6212-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f2af4c9-05a8-4c97-ac2d-af9241b4ea64 20817c66-3be1-4450-8be9-a922838cec1f g.chr4:155508070C>T ENST00000302053.3 - 5 589 c.510_splice c.e5-1 p.V171_splice FGA_ENST00000403106.3_Splice_Site_p.V171_splice NM_000508.3 NP_000499.1 P02671 FIBA_HUMAN fibrinogen alpha chain 171 platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding p.V171M(1) NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 73 all_hematologic(180;0.215) Renal(120;0.0458) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031) TCAATGTCCACCTAGAGAGAG 0.393000 14 49 0 0 0.024245 0 0 PCDHB3 56132 broad.mit.edu 37 5 140482147 140482147 + Missense_Mutation SNP C C G rs144773246 byFrequency TCGA-75-6212-01A-11D-1753-08 TCGA-75-6212-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f2af4c9-05a8-4c97-ac2d-af9241b4ea64 20817c66-3be1-4450-8be9-a922838cec1f g.chr5:140482147C>G ENST00000231130.2 + 1 1914 c.1914C>G c.(1912-1914)caC>caG p.H638Q NM_018937.2 NP_061760.1 Q9Y5E6 PCDB3_HUMAN 638 Cadherin 6. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding p.H638Q(1) NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 72 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CGGCCAAGCACAGGCTGGTGG 0.697000 3 49 0 0 0.004672 0 0 TICRR 90381 broad.mit.edu 37 15 90167027 90167027 + Silent SNP A A C TCGA-75-6212-01A-11D-1753-08 TCGA-75-6212-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f2af4c9-05a8-4c97-ac2d-af9241b4ea64 20817c66-3be1-4450-8be9-a922838cec1f g.chr15:90167027A>C ENST00000268138.7 + 20 3591 c.3486A>C c.(3484-3486)tcA>tcC p.S1162S KIF7_ENST00000558928.1_Intron|TICRR_ENST00000560985.1_Silent_p.S1161S TOPBP1-interacting checkpoint and replication regulator p.S1162S(1) ACTCCTCCTCACCCGGCCATG 0.473000 9 109 0 0 0.069234 0 0 CCDC125 202243 broad.mit.edu 37 5 68616341 68616341 + Missense_Mutation SNP A A C TCGA-75-6212-01A-11D-1753-08 TCGA-75-6212-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f2af4c9-05a8-4c97-ac2d-af9241b4ea64 20817c66-3be1-4450-8be9-a922838cec1f g.chr5:68616341A>C ENST00000396496.2 - 2 134 c.27T>G c.(25-27)agT>agG p.S9R CCDC125_ENST00000460090.1_5'UTR|CCDC125_ENST00000396499.1_Missense_Mutation_p.S9R|CCDC125_ENST00000383374.2_Missense_Mutation_p.S9R|CCDC125_ENST00000511257.1_5'UTR Q86Z20 CC125_HUMAN coiled-coil domain containing 125 9 cytoplasm p.S9R(1) breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|urinary_tract(1) 19 Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;2.2e-56)|Epithelial(20;2.31e-52)|all cancers(19;5.85e-48)|Lung(70;0.0183) CGTCTGACTCACTTGATGATC 0.428000 14 55 0 0 0.033300 0 0 GPHB5 122876 broad.mit.edu 37 14 63784452 63784452 + RNA SNP C C T TCGA-75-6212-01A-11D-1753-08 TCGA-75-6212-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f2af4c9-05a8-4c97-ac2d-af9241b4ea64 20817c66-3be1-4450-8be9-a922838cec1f g.chr14:63784452C>T ENST00000539258.1 - 0 168 Q86YW7 GPHB5_HUMAN glycoprotein hormone beta 5 extracellular region hormone activity p.V38M(2) breast(1)|endometrium(1)|lung(4)|urinary_tract(1) 7 OV - Ovarian serous cystadenocarcinoma(108;0.00372)|all cancers(60;0.0226)|BRCA - Breast invasive adenocarcinoma(234;0.0978) AACTCCCTCACGGCACAGCCC 0.622000 5 47 0 0 0.014758 0 0 TMPRSS13 84000 broad.mit.edu 37 11 117784512 117784512 + Silent SNP G G A TCGA-75-6212-01A-11D-1753-08 TCGA-75-6212-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f2af4c9-05a8-4c97-ac2d-af9241b4ea64 20817c66-3be1-4450-8be9-a922838cec1f g.chr11:117784512G>A ENST00000528626.1 - 4 757 c.684C>T c.(682-684)tgC>tgT p.C228C TMPRSS13_ENST00000524993.1_Silent_p.C263C|TMPRSS13_ENST00000526090.1_Silent_p.C263C|TMPRSS13_ENST00000445164.2_Silent_p.C263C|TMPRSS13_ENST00000430170.2_Silent_p.C263C NM_001206789.1 NP_001193718.1 Q9BYE2 TMPSD_HUMAN transmembrane protease, serine 13 258 SRCR. proteolysis integral to membrane scavenger receptor activity|serine-type endopeptidase activity p.C263C(1) endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1) 20 all_hematologic(175;0.0487) Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106) CCAGCTGCTGGCAGGTCTTCT 0.537000 13 55 0 0 0.020292 0 0 POTEC 388468 broad.mit.edu 37 18 14513675 14513675 + Missense_Mutation SNP T T C TCGA-75-6212-01A-11D-1753-08 TCGA-75-6212-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f2af4c9-05a8-4c97-ac2d-af9241b4ea64 20817c66-3be1-4450-8be9-a922838cec1f g.chr18:14513675T>C ENST00000358970.5 - 10 1518 c.1519A>G c.(1519-1521)Aaa>Gaa p.K507E NM_001137671.1 NP_001131143.1 B2RU33 POTEC_HUMAN POTE ankyrin domain family, member C 507 p.K507E(2) NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 GAATTCATTTTCTTTTCAGCC 0.284000 3 62 0 0 0.004672 0 0 KIF9 64147 broad.mit.edu 37 3 47288871 47288871 + Missense_Mutation SNP C C T TCGA-75-6212-01A-11D-1753-08 TCGA-75-6212-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f2af4c9-05a8-4c97-ac2d-af9241b4ea64 20817c66-3be1-4450-8be9-a922838cec1f g.chr3:47288871C>T ENST00000335044.2 - 12 1582 c.1225G>A c.(1225-1227)Gag>Aag p.E409K KIF9_ENST00000452770.2_Missense_Mutation_p.E409K|KIF9_ENST00000487440.1_5'UTR|KIF9_ENST00000444589.2_Missense_Mutation_p.E409K|KIF9_ENST00000265529.3_Missense_Mutation_p.E409K|KIF9_ENST00000352910.4_Missense_Mutation_p.E316K NM_001134878.1|NM_182902.3 NP_001128350.1|NP_878905.2 Q9HAQ2 KIF9_HUMAN kinesin family member 9 409 blood coagulation|microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity p.E409K(1) central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2) 34 Acute lymphoblastic leukemia(5;0.164) BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007) ACGTCGATCTCGTCCAGTGTC 0.592000 10 59 0 0 0.093190 0 0 NHS 4810 broad.mit.edu 37 X 17394368 17394368 + Missense_Mutation SNP G G A TCGA-75-6212-01A-11D-1753-08 TCGA-75-6212-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f2af4c9-05a8-4c97-ac2d-af9241b4ea64 20817c66-3be1-4450-8be9-a922838cec1f g.chrX:17394368G>A ENST00000380060.3 + 1 826 c.488G>A c.(487-489)cGc>cAc p.R163H NM_198270.2 NP_938011.1 Q6T4R5 NHS_HUMAN Nance-Horan syndrome (congenital cataracts and dental anomalies) 163 nucleus p.R163H(1) breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 71 Hepatocellular(33;0.183) ACCCACCGCCGCGTCTGGGCG 0.716000 3 2 0 0 0.004672 0 0 GOLGA8DP 100132979 broad.mit.edu 37 15 22709637 22709637 + RNA SNP T T G rs140467724 by1000genomes TCGA-75-6212-01A-11D-1753-08 TCGA-75-6212-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f2af4c9-05a8-4c97-ac2d-af9241b4ea64 20817c66-3be1-4450-8be9-a922838cec1f g.chr15:22709637T>G ENST00000314246.8 - 0 1147 CCCATCTGGTTTTTGAGTTTG 0.547000 4 180 0 0 0.014758 0 0 ZNF420 147923 broad.mit.edu 37 19 37619247 37619247 + Missense_Mutation SNP T T C TCGA-75-6212-01A-11D-1753-08 TCGA-75-6212-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f2af4c9-05a8-4c97-ac2d-af9241b4ea64 20817c66-3be1-4450-8be9-a922838cec1f g.chr19:37619247T>C ENST00000337995.3 + 5 1569 c.1354T>C c.(1354-1356)Tgt>Cgt p.C452R ZNF420_ENST00000304239.7_Missense_Mutation_p.C452R|ZNF585A_ENST00000588723.1_Intron NM_144689.3 NP_653290.2 Q8TAQ5 ZN420_HUMAN zinc finger protein 420 452 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.C452R(1) breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3) 27 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) ATGTAAAGAATGTGGAAAAAC 0.403000 8 42 0 0 0.047766 0 0 CHM 1121 broad.mit.edu 37 X 85219008 85219008 + Missense_Mutation SNP G G A TCGA-75-6212-01A-11D-1753-08 TCGA-75-6212-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f2af4c9-05a8-4c97-ac2d-af9241b4ea64 20817c66-3be1-4450-8be9-a922838cec1f g.chrX:85219008G>A ENST00000357749.2 - 5 393 c.364C>T c.(364-366)Cat>Tat p.H122Y CHM_ENST00000537751.1_5'UTR|CHM_ENST00000467744.1_Intron NM_000390.2 NP_000381.1 P24386 RAE1_HUMAN choroideremia (Rab escort protein 1) 122 intracellular protein transport|protein geranylgeranylation|response to stimulus|visual perception Rab-protein geranylgeranyltransferase complex GTPase activator activity|Rab geranylgeranyltransferase activity p.H122Y(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1) 20 all_lung(315;5.41e-06) ACAAGAGCATGATTTTTCTGC 0.403000 12 60 0 0 0.093190 0 0 SPTA1 6708 broad.mit.edu 37 1 158592861 158592861 + Missense_Mutation SNP G G A TCGA-75-6212-01A-11D-1753-08 TCGA-75-6212-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f2af4c9-05a8-4c97-ac2d-af9241b4ea64 20817c66-3be1-4450-8be9-a922838cec1f g.chr1:158592861G>A ENST00000368148.3 - 43 6212 c.6032C>T c.(6031-6033)gCc>gTc p.A2011V SPTA1_ENST00000461624.1_5'UTR|SPTA1_ENST00000368147.3_Missense_Mutation_p.A2008V NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 2011 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton p.A2011V(6) NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) CAGCAGAGCGGCATAACGCTC 0.483000 6 381 0 0 0.029380 0 0 EMR1 2015 broad.mit.edu 37 19 6919679 6919679 + Missense_Mutation SNP G G A TCGA-75-6212-01A-11D-1753-08 TCGA-75-6212-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f2af4c9-05a8-4c97-ac2d-af9241b4ea64 20817c66-3be1-4450-8be9-a922838cec1f g.chr19:6919679G>A ENST00000312053.4 + 13 1578 c.1541G>A c.(1540-1542)cGa>cAa p.R514Q EMR1_ENST00000381404.4_Missense_Mutation_p.R462Q|EMR1_ENST00000450315.3_Missense_Mutation_p.R337Q|EMR1_ENST00000381407.5_Missense_Mutation_p.R373Q|EMR1_ENST00000250572.8_Missense_Mutation_p.R514Q NM_001974.4 NP_001965.3 Q14246 EMR1_HUMAN egf-like module containing, mucin-like, hormone receptor-like 1 514 Ser/Thr-rich. cell adhesion|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity p.R514Q(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8) 62 all_hematologic(4;0.166) ATGAATTCTCGAGTCGTTGGG 0.473000 18 82 0 0 0.043863 0 0 VPS13B 157680 broad.mit.edu 37 8 100836132 100836132 + Missense_Mutation SNP A A G TCGA-75-6212-01A-11D-1753-08 TCGA-75-6212-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f2af4c9-05a8-4c97-ac2d-af9241b4ea64 20817c66-3be1-4450-8be9-a922838cec1f g.chr8:100836132A>G ENST00000358544.2 + 51 9442 c.9331A>G c.(9331-9333)Ata>Gta p.I3111V VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.I3086V NM_017890.4 NP_060360.3 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 3111 protein transport p.I3111V(1)|p.I3086V(1) NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) CAAGACTACAATAATCAATAA 0.318000 29 113 0 0 0.037714 0 0 AFF1 4299 broad.mit.edu 37 4 87968334 87968334 + Missense_Mutation SNP C C T TCGA-75-6212-01A-11D-1753-08 TCGA-75-6212-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f2af4c9-05a8-4c97-ac2d-af9241b4ea64 20817c66-3be1-4450-8be9-a922838cec1f g.chr4:87968334C>T ENST00000307808.6 + 3 1046 c.626C>T c.(625-627)cCc>cTc p.P209L AFF1_ENST00000544085.1_Intron|AFF1_ENST00000395146.4_Missense_Mutation_p.P216L NM_005935.2 NP_005926.1 P51825 AFF1_HUMAN AF4/FMR2 family, member 1 209 P -> A (in dbSNP:rs3733378). nucleus sequence-specific DNA binding transcription factor activity p.P216L(1) breast(1)|large_intestine(2) 3 Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000233) TCCCCAGTTCCCCCTTTGTCA 0.522000 20 103 0 0 0.043863 0 0 NKD1 85407 broad.mit.edu 37 16 50667219 50667219 + Missense_Mutation SNP G G A TCGA-75-6212-01A-11D-1753-08 TCGA-75-6212-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f2af4c9-05a8-4c97-ac2d-af9241b4ea64 20817c66-3be1-4450-8be9-a922838cec1f g.chr16:50667219G>A ENST00000268459.3 + 10 1164 c.940G>A c.(940-942)Gac>Aac p.D314N NM_033119.4 NP_149110.1 Q969G9 NKD1_HUMAN naked cuticle homolog 1 (Drosophila) 314 Wnt receptor signaling pathway cytoplasm|plasma membrane calcium ion binding|protein binding p.D314N(1) NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2) 23 all_cancers(37;0.229) GBM - Glioblastoma multiforme(240;0.243) CCAAGGCGTGGACCCGGCCTC 0.632000 16 92 0 0 0.038395 0 0 FOSL1 8061 broad.mit.edu 37 11 65660407 65660407 + Nonsense_Mutation SNP C C A TCGA-75-6212-01A-11D-1753-08 TCGA-75-6212-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f2af4c9-05a8-4c97-ac2d-af9241b4ea64 20817c66-3be1-4450-8be9-a922838cec1f g.chr11:65660407C>A ENST00000312562.2 - 4 952 c.766G>T c.(766-768)Gga>Tga p.G256* FOSL1_ENST00000448083.2_Nonsense_Mutation_p.G154*|FOSL1_ENST00000532401.1_3'UTR|FOSL1_ENST00000531493.1_Nonsense_Mutation_p.G220* NM_005438.3 NP_005429.1 P15407 FOSL1_HUMAN FOS-like antigen 1 256 cellular defense response|chemotaxis|positive regulation of cell proliferation|response to virus|transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.G256*(1) breast(1)|endometrium(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 10 READ - Rectum adenocarcinoma(159;0.168) GATGGGTCTCCGCTGCTGCTG 0.612000 3 42 0.00909568 0.00952881 0.009096 1 0 C2orf57 165100 broad.mit.edu 37 2 232458074 232458074 + Missense_Mutation SNP G G A TCGA-75-6212-01A-11D-1753-08 TCGA-75-6212-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f2af4c9-05a8-4c97-ac2d-af9241b4ea64 20817c66-3be1-4450-8be9-a922838cec1f g.chr2:232458074G>A ENST00000313965.2 + 1 500 c.412G>A c.(412-414)Gcg>Acg p.A138T NM_152614.2 NP_689827.2 Q53QW1 CB057_HUMAN chromosome 2 open reading frame 57 138 p.A138T(1) endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|prostate(4)|skin(2) 19 Renal(207;0.025)|all_hematologic(139;0.0735)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;1.33e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014) GTCACAAATGGCGAGTGTTCC 0.572000 5 78 0 0 0.021553 0 0 MED23 9439 broad.mit.edu 37 6 131944569 131944569 + Silent SNP A A G TCGA-75-6212-01A-11D-1753-08 TCGA-75-6212-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f2af4c9-05a8-4c97-ac2d-af9241b4ea64 20817c66-3be1-4450-8be9-a922838cec1f g.chr6:131944569A>G ENST00000403834.3 - 5 491 c.318T>C c.(316-318)acT>acC p.T106T MED23_ENST00000540546.1_Silent_p.T106T|MED23_ENST00000354577.4_Silent_p.T106T|MED23_ENST00000368053.4_Silent_p.T106T|MED23_ENST00000368068.3_Silent_p.T106T|MED23_ENST00000368060.3_Silent_p.T106T|MED23_ENST00000539158.1_Silent_p.T106T|MED23_ENST00000368058.1_Silent_p.T106T Q9ULK4 MED23_HUMAN mediator complex subunit 23 106 regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter transcription factor complex protein binding|transcription coactivator activity p.T106T(2) NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 44 Breast(56;0.0753) GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608) CCCACTCAAGAGTGTCAGAGT 0.363000 3 108 0 0 0.009096 0 0 SRGAP2-AS1 100873165 broad.mit.edu 37 1 121137803 121137805 + RNA DEL CCA CCA - rs60375635 by1000genomes TCGA-75-6212-01A-11D-1753-08 TCGA-75-6212-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f2af4c9-05a8-4c97-ac2d-af9241b4ea64 20817c66-3be1-4450-8be9-a922838cec1f g.chr1:121137803_121137805delCCA ENST00000437515.1 - 0 329 ACCGCCGCCGCCACGGCTTTTTG 0.645 5 6 --- --- --- --- RP11-608O21.1 0 broad.mit.edu 37 4 19815895 19815895 + RNA DEL A A - rs145239076 TCGA-75-6212-01A-11D-1753-08 TCGA-75-6212-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f2af4c9-05a8-4c97-ac2d-af9241b4ea64 20817c66-3be1-4450-8be9-a922838cec1f g.chr4:19815895delA ENST00000511431.1 + 0 288 TCTGGGCTGTaaaaaaaaaaa 0.413 3 4 --- --- --- --- EGFR 1956 broad.mit.edu 37 7 55242466 55242474 + In_Frame_Del DEL GAATTAAGA GAATTAAGA - rs121913438 TCGA-75-6212-01A-11D-1753-08 TCGA-75-6212-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f2af4c9-05a8-4c97-ac2d-af9241b4ea64 20817c66-3be1-4450-8be9-a922838cec1f g.chr7:55242466_55242474delGAATTAAGA ENST00000275493.2 + 19 2413_2421 c.2236_2244delGAATTAAGA c.(2236-2244)del p.ELR746del EGFR_ENST00000442591.1_Intron|EGFR_ENST00000455089.1_In_Frame_Del_p.ELR701del|EGFR_ENST00000454757.2_In_Frame_Del_p.ELR693del NM_005228.3 NP_005219.2 P00533 EGFR_HUMAN epidermal growth factor receptor 746 Protein kinase. Missing (found in a lung cancer sample). activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.E746_A750del(1007)|p.L747_P753>S(123)|p.L747_A750>P(82)|p.L747_T751del(76)|p.E746_S752>V(57)|p.L747_S752del(34)|p.L747_T751>P(21)|p.E746_T751>A(21)|p.L747_E749del(16)|p.E746_E749del(9)|p.L747_T751>S(7)|p.L747_P753>Q(7)|p.K745_E749del(6)|p.E746_T751>V(6)|p.L747S(6)|p.E746_S752>A(6)|p.E746_T751>VA(6)|p.L747_T751>Q(5)|p.E746_T751del(4)|p.E746_T751>I(4)|p.E746_S752>D(4)|p.E746_S752>I(4)|p.K745_E746insVPVAIK(4)|p.E746_A750>IP(3)|p.L747P(3)|p.L747_S752>Q(3)|p.E746K(3)|p.E746_T751>IP(3)|p.E746_T751>VP(3)|p.E746_A750>RP(2)|p.L747_S752>QH(2)|p.E746_S752del(2)|p.E746_P753>VS(2)|p.E746_A750>QP(2)|p.L747_K754del(2)|p.L747_K754>ST(1)|p.E746_A750>VP(1)|p.L747_P753del(1)|p.E746del(1)|p.L747_K754>N(1)|p.E746_P753>IS(1)|p.E746_T751>L(1)|p.L747_R748>FP(1)|p.L747_T751>A(1)|p.I744_E749>LKR(1)|p.E746_P753>LS(1)|p.E746_T751>Q(1)|p.E746_T751>S(1)|p.E746_P753>VQ(1)|p.E746_A750>DP(1)|p.E746V(1)|p.I744_A750>VK(1)|p.R748I(1)|p.K745_A750del(1)|p.R748K(1) NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) CGCTATCAAGGAATTAAGAGAAGCAACAT 0.478 E746K(HCC827_LUNG)|E746_A750del(NCIH1650_LUNG)|E746_A750del(PC14_LUNG)|L747_P753>Q(HCC4006_LUNG) 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 26 69 --- --- --- --- GTF2I 2969 broad.mit.edu 37 7 74114596 74114608 + Frame_Shift_Del DEL CACAGTGGTACCT CACAGTGGTACCT - TCGA-75-6212-01A-11D-1753-08 TCGA-75-6212-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f2af4c9-05a8-4c97-ac2d-af9241b4ea64 20817c66-3be1-4450-8be9-a922838cec1f g.chr7:74114596_74114608delCACAGTGGTACCT ENST00000324896.4 + 5 782_794 c.393_405delCACAGTGGTACCT c.(391-405)tcfs p.STVVP131fs AC083884.8_ENST00000434256.1_RNA|GTF2I_ENST00000416070.1_Frame_Shift_Del_p.STVVP131fs|AC083884.8_ENST00000450426.2_RNA|AC083884.8_ENST00000594967.1_RNA|GTF2I_ENST00000346152.4_Frame_Shift_Del_p.STVVP131fs|GTF2I_ENST00000443166.1_Frame_Shift_Del_p.STVVP131fs|GTF2I_ENST00000353920.4_Frame_Shift_Del_p.STVVP131fs NM_032999.2 NP_127492.1 P78347 GTF2I_HUMAN general transcription factor IIi 131 negative regulation of angiogenesis|signal transduction|transcription initiation from RNA polymerase II promoter cytoplasm|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 19 TAGGCAAATCCACAGTGGTACCTGTACCATATG 0.460 11 96 --- --- --- --- TPTE2P1 646405 broad.mit.edu 37 13 25527490 25527491 + RNA INS - - AAAAAG TCGA-75-6212-01A-11D-1753-08 TCGA-75-6212-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f2af4c9-05a8-4c97-ac2d-af9241b4ea64 20817c66-3be1-4450-8be9-a922838cec1f g.chr13:25527490_25527491insAAAAAG ENST00000429698.1 - 0 282 AGGAAGGTTCTAAAAAAAATTT 0.252 4 6 --- --- --- --- MAX 4149 broad.mit.edu 37 14 65544746 65544748 + In_Frame_Del DEL CCG CCG - TCGA-75-6212-01A-11D-1753-08 TCGA-75-6212-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f2af4c9-05a8-4c97-ac2d-af9241b4ea64 20817c66-3be1-4450-8be9-a922838cec1f g.chr14:65544746_65544748delCCG ENST00000284165.6 - 4 326_328 c.178_180delCGG c.(178-180)del p.R60del MAX_ENST00000555932.1_Intron|MAX_ENST00000556979.1_In_Frame_Del_p.R60del|MAX_ENST00000358402.4_In_Frame_Del_p.R51del|MAX_ENST00000341653.2_Intron|MAX_ENST00000557746.1_In_Frame_Del_p.R51del|MAX_ENST00000557277.1_De_novo_Start_InFrame|MAX_ENST00000358664.4_In_Frame_Del_p.R60del|MAX_ENST00000556443.1_In_Frame_Del_p.R51del|MAX_ENST00000555667.1_In_Frame_Del_p.R51del|MAX_ENST00000555419.1_In_Frame_Del_p.R24del NM_145113.1 NP_660088.1 P61244 MAX_HUMAN MYC associated factor X 60 Helix-loop-helix motif. transcription from RNA polymerase II promoter cytoplasm|MLL1 complex sequence-specific DNA binding transcription factor activity|transcription coactivator activity p.R60Q(5) breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1) 17 all cancers(60;0.000776)|OV - Ovarian serous cystadenocarcinoma(108;0.00359)|BRCA - Breast invasive adenocarcinoma(234;0.00999) GGATTTGGGCCCGGGATGCCTGT 0.502 33 28 --- --- --- --- SNHG23 100507242 broad.mit.edu 37 14 101421884 101421888 + RNA DEL ATATT ATATT - TCGA-75-6212-01A-11D-1753-08 TCGA-75-6212-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f2af4c9-05a8-4c97-ac2d-af9241b4ea64 20817c66-3be1-4450-8be9-a922838cec1f g.chr14:101421884_101421888delATATT ENST00000556637.1 + 0 399 aattttaaaaatattatattattaa 0.283 5 4 --- --- --- --- CDC27 996 broad.mit.edu 37 17 45219612 45219612 + Frame_Shift_Del DEL A A - TCGA-75-6212-01A-11D-1753-08 TCGA-75-6212-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f2af4c9-05a8-4c97-ac2d-af9241b4ea64 20817c66-3be1-4450-8be9-a922838cec1f g.chr17:45219612delA ENST00000066544.3 - 11 1454 c.1361delT c.(1360-1362)cafs p.L454fs CDC27_ENST00000527547.1_Frame_Shift_Del_p.L454fs|CDC27_ENST00000446365.2_Frame_Shift_Del_p.L393fs|CDC27_ENST00000531206.1_Frame_Shift_Del_p.L460fs NM_001114091.1|NM_001256.3 NP_001107563.1|NP_001247.3 P30260 CDC27_HUMAN cell division cycle 27 454 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule protein phosphatase binding NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2) 90 TGCTTTTTGTAGATTAAAGGC 0.308 10 47 --- --- --- ---