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 GP2 2813 broad.mit.edu 37 16 20335360 20335360 + Missense_Mutation SNP C C T TCGA-55-7573-01A-11D-2036-08 TCGA-55-7573-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36b5181b-9b59-428a-9c0e-45ac9e0d1674 4cc8017b-3238-4cf0-9c04-4a739fe7b511 g.chr16:20335360C>T ENST00000302555.5 - 3 462 c.313G>A c.(313-315)Gag>Aag p.E105K GP2_ENST00000381360.5_Intron|GP2_ENST00000381362.4_Missense_Mutation_p.E105K|GP2_ENST00000341642.5_Intron P55259 GP2_HUMAN glycoprotein 2 (zymogen granule membrane) 105 anchored to membrane|extracellular region|plasma membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 ACACAGGTCTCCGACATCCTT 0.592000 39 69 0 0 0.840704 0 0 PTCHD3 374308 broad.mit.edu 37 10 27688056 27688056 + Missense_Mutation SNP T T A TCGA-55-7573-01A-11D-2036-08 TCGA-55-7573-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36b5181b-9b59-428a-9c0e-45ac9e0d1674 4cc8017b-3238-4cf0-9c04-4a739fe7b511 g.chr10:27688056T>A ENST00000438700.3 - 4 1588 c.1471A>T c.(1471-1473)Aca>Tca p.T491S NM_001034842.3 NP_001030014.2 Q3KNS1 PTHD3_HUMAN patched domain containing 3 491 SSD. spermatid development integral to membrane hedgehog receptor activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 55 GTGGTGATTGTAATAGACACT 0.413000 13 32 0 0 0.435327 0 0 LAMC3 10319 broad.mit.edu 37 9 133936562 133936562 + Missense_Mutation SNP C C T TCGA-55-7573-01A-11D-2036-08 TCGA-55-7573-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36b5181b-9b59-428a-9c0e-45ac9e0d1674 4cc8017b-3238-4cf0-9c04-4a739fe7b511 g.chr9:133936562C>T ENST00000361069.4 + 13 2432 c.2299C>T c.(2299-2301)Cca>Tca p.P767S LAMC3_ENST00000480883.1_Intron NM_006059.3 NP_006050.3 Q9Y6N6 LAMC3_HUMAN laminin, gamma 3 767 Laminin EGF-like 7. cell adhesion basement membrane|membrane structural molecule activity endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 69 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551) TACGACCATCCCAGAGAGCCG 0.677000 12 18 0 0 0.387290 0 0 OR2J2 26707 broad.mit.edu 37 6 29142088 29142088 + Missense_Mutation SNP G G A TCGA-55-7573-01A-11D-2036-08 TCGA-55-7573-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36b5181b-9b59-428a-9c0e-45ac9e0d1674 4cc8017b-3238-4cf0-9c04-4a739fe7b511 g.chr6:29142088G>A ENST00000377167.2 + 1 778 c.676G>A c.(676-678)Gta>Ata p.V226I NM_030905.2 NP_112167.2 O76002 OR2J2_HUMAN olfactory receptor, family 2, subfamily J, member 2 226 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1) 25 TGCCCGGGCTGTACTGAGCAT 0.463000 5 100 0 0 0.307466 0 0 HMCN1 83872 broad.mit.edu 37 1 186056718 186056718 + Nonsense_Mutation SNP G G T TCGA-55-7573-01A-11D-2036-08 TCGA-55-7573-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36b5181b-9b59-428a-9c0e-45ac9e0d1674 4cc8017b-3238-4cf0-9c04-4a739fe7b511 g.chr1:186056718G>T ENST00000271588.4 + 60 9533 c.9304G>T c.(9304-9306)Gag>Tag p.E3102* HMCN1_ENST00000367492.2_Nonsense_Mutation_p.E3102* NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 3102 Ig-like C2-type 29. response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 GATGATAACAGAGTCTACTCA 0.428000 17 91 2.35188e-11 3.32813e-11 0.539581 1 0 OTUB1 55611 broad.mit.edu 37 11 63764060 63764060 + Missense_Mutation SNP A A G TCGA-55-7573-01A-11D-2036-08 TCGA-55-7573-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36b5181b-9b59-428a-9c0e-45ac9e0d1674 4cc8017b-3238-4cf0-9c04-4a739fe7b511 g.chr11:63764060A>G ENST00000538426.1 + 4 322 c.278A>G c.(277-279)tAt>tGt p.Y93C OTUB1_ENST00000535715.1_Missense_Mutation_p.Y93C|OTUB1_ENST00000541478.1_Intron|OTUB1_ENST00000543988.1_Missense_Mutation_p.Y63C|OTUB1_ENST00000428192.2_Missense_Mutation_p.Y93C|OTUB1_ENST00000422031.2_Missense_Mutation_p.Y130C|OTUB1_ENST00000543004.1_Missense_Mutation_p.Y102C NM_017670.2 NP_060140.2 Q96FW1 OTUB1_HUMAN OTU domain, ubiquitin aldehyde binding 1 93 OTU. protein K48-linked deubiquitination cytoplasm NEDD8-specific protease activity|omega peptidase activity|ubiquitin binding|ubiquitin-specific protease activity breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1) 6 AACTGTTTCTATCGGGCTTTC 0.592000 29 32 0 0 0.693898 0 0 OR4S2 219431 broad.mit.edu 37 11 55418704 55418704 + Nonsense_Mutation SNP G G T TCGA-55-7573-01A-11D-2036-08 TCGA-55-7573-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36b5181b-9b59-428a-9c0e-45ac9e0d1674 4cc8017b-3238-4cf0-9c04-4a739fe7b511 g.chr11:55418704G>T ENST00000312422.2 + 1 325 c.325G>T c.(325-327)Gag>Tag p.E109* NM_001004059.2 NP_001004059.2 Q8NH73 OR4S2_HUMAN olfactory receptor, family 4, subfamily S, member 2 109 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_epithelial(135;0.0748) TGGTTGCACTGAGATCTTCAT 0.418000 20 111 2.37509e-13 3.49278e-13 0.592651 1 0 EIF4G2 1982 broad.mit.edu 37 11 10822541 10822541 + Missense_Mutation SNP G G C TCGA-55-7573-01A-11D-2036-08 TCGA-55-7573-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36b5181b-9b59-428a-9c0e-45ac9e0d1674 4cc8017b-3238-4cf0-9c04-4a739fe7b511 g.chr11:10822541G>C ENST00000526148.1 - 15 2017 c.1507C>G c.(1507-1509)Cca>Gca p.P503A EIF4G2_ENST00000525681.1_Missense_Mutation_p.P503A|RP11-685M7.5_ENST00000532365.1_RNA|EIF4G2_ENST00000339995.5_Missense_Mutation_p.P503A|EIF4G2_ENST00000396525.2_Missense_Mutation_p.P465A NM_001172705.1 NP_001166176.1 P78344 IF4G2_HUMAN eukaryotic translation initiation factor 4 gamma, 2 503 cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6) 43 all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111) GTGCGTGGTGGTTGTGCACTA 0.428000 4 49 0 0 0.184627 0 0 JPH2 57158 broad.mit.edu 37 20 42815110 42815110 + Missense_Mutation SNP C C T TCGA-55-7573-01A-11D-2036-08 TCGA-55-7573-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36b5181b-9b59-428a-9c0e-45ac9e0d1674 4cc8017b-3238-4cf0-9c04-4a739fe7b511 g.chr20:42815110C>T ENST00000372980.3 - 1 1108 c.236G>A c.(235-237)cGc>cAc p.R79H JPH2_ENST00000342272.3_Missense_Mutation_p.R79H NM_020433.4 NP_065166.2 Q9BR39 JPH2_HUMAN junctophilin 2 79 Gly-rich. calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) GTAGAGCCAGCGCCCCTTGGT 0.592000 3 59 0 0 0.115264 0 0 SNHG14 104472715 broad.mit.edu 37 15 25420090 25420090 + RNA SNP C C A TCGA-55-7573-01A-11D-2036-08 TCGA-55-7573-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36b5181b-9b59-428a-9c0e-45ac9e0d1674 4cc8017b-3238-4cf0-9c04-4a739fe7b511 g.chr15:25420090C>A ENST00000441592.2 + 0 179 SNORD115-3_ENST00000363100.1_RNA ATGATGAGAACCTTATATTGT 0.498000 27 303 2.48779e-11 3.45527e-11 0.693898 1 0 CDC42BPG 55561 broad.mit.edu 37 11 64596984 64596984 + Missense_Mutation SNP C C A TCGA-55-7573-01A-11D-2036-08 TCGA-55-7573-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36b5181b-9b59-428a-9c0e-45ac9e0d1674 4cc8017b-3238-4cf0-9c04-4a739fe7b511 g.chr11:64596984C>A ENST00000342711.5 - 30 3925 c.3926G>T c.(3925-3927)cGt>cTt p.R1309L NM_017525.2 NP_059995.2 Q6DT37 MRCKG_HUMAN CDC42 binding protein kinase gamma (DMPK-like) 1309 CNH. actin cytoskeleton reorganization|intracellular signal transduction cell leading edge|centrosome ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity central_nervous_system(1)|lung(3) 4 CTCGTGGCCACGAGACTTGCG 0.652000 14 26 0.00244969 0.00258771 0.457914 1 0 PRRX1 5396 broad.mit.edu 37 1 170705309 170705309 + Silent SNP G G A TCGA-55-7573-01A-11D-2036-08 TCGA-55-7573-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36b5181b-9b59-428a-9c0e-45ac9e0d1674 4cc8017b-3238-4cf0-9c04-4a739fe7b511 g.chr1:170705309G>A ENST00000239461.6 + 4 1033 c.720G>A c.(718-720)caG>caA p.Q240Q PRRX1_ENST00000476867.2_3'UTR|PRRX1_ENST00000367760.3_3'UTR NM_022716.2 NP_073207.1 P54821 PRRX1_HUMAN paired related homeobox 1 240 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity large_intestine(2)|ovary(1) 3 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) AGAGGAACCAGGTGCCAACAG 0.433000 34 72 0 0 0.750413 0 0 OR5L1 219437 broad.mit.edu 37 11 55579820 55579820 + Missense_Mutation SNP G G T TCGA-55-7573-01A-11D-2036-08 TCGA-55-7573-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36b5181b-9b59-428a-9c0e-45ac9e0d1674 4cc8017b-3238-4cf0-9c04-4a739fe7b511 g.chr11:55579820G>T ENST00000333973.2 + 1 967 c.878G>T c.(877-879)aGa>aTa p.R293I NM_001004738.1 NP_001004738.1 Q8NGL2 OR5L1_HUMAN olfactory receptor, family 5, subfamily L, member 1 293 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3) 78 all_epithelial(135;0.208) TACAGCCTGAGAAATAAAGAT 0.453000 4 38 0.000602214 0.000664207 0.184627 1 0 OR2M5 127059 broad.mit.edu 37 1 248308722 248308722 + Silent SNP C C G TCGA-55-7573-01A-11D-2036-08 TCGA-55-7573-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36b5181b-9b59-428a-9c0e-45ac9e0d1674 4cc8017b-3238-4cf0-9c04-4a739fe7b511 g.chr1:248308722C>G ENST00000366476.1 + 1 273 c.273C>G c.(271-273)tcC>tcG p.S91S NM_001004690.1 NP_001004690.1 A3KFT3 OR2M5_HUMAN olfactory receptor, family 2, subfamily M, member 5 91 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 49 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0388) GCAGCAAGTCCATTTCTATGG 0.463000 145 317 0 0 0.870114 0 0 ERCC6 2074 broad.mit.edu 37 10 50667157 50667157 + Missense_Mutation SNP T T C TCGA-55-7573-01A-11D-2036-08 TCGA-55-7573-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36b5181b-9b59-428a-9c0e-45ac9e0d1674 4cc8017b-3238-4cf0-9c04-4a739fe7b511 g.chr10:50667157T>C ENST00000355832.5 - 21 4264 c.4186A>G c.(4186-4188)Aga>Gga p.R1396G RP11-123B3.2_ENST00000423283.1_RNA|ERCC6_ENST00000542458.1_Missense_Mutation_p.R766G NM_000124.2 NP_000115.1 Q03468 ERCC6_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 6 1396 base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair nucleolus|soluble fraction|transcription elongation factor complex ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 AGGTGGTTTCTAGCTCTCATT 0.512000 Direct reversal of damage;Nucleotide excision repair (NER) 18 76 0 0 0.520397 0 0 MTMR8 55613 broad.mit.edu 37 X 63444984 63444984 + Missense_Mutation SNP C C A TCGA-55-7573-01A-11D-2036-08 TCGA-55-7573-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36b5181b-9b59-428a-9c0e-45ac9e0d1674 4cc8017b-3238-4cf0-9c04-4a739fe7b511 g.chrX:63444984C>A ENST00000453546.1 - 10 1761 c.1672G>T c.(1672-1674)Ggc>Tgc p.G558C ASB12_ENST00000396130.2_Missense_Mutation_p.G174C|ASB12_ENST00000362002.2_Missense_Mutation_p.G183C Q96EF0 MTMR8_HUMAN myotubularin related protein 8 0 nuclear envelope protein tyrosine phosphatase activity p.0?(2) breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3) 37 TAGAGGGGGCCAGAACATGAA 0.562000 6 18 0.00198382 0.00212552 0.248553 1 0 NUP85 79902 broad.mit.edu 37 17 73206052 73206052 + Nonsense_Mutation SNP G G T TCGA-55-7573-01A-11D-2036-08 TCGA-55-7573-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36b5181b-9b59-428a-9c0e-45ac9e0d1674 4cc8017b-3238-4cf0-9c04-4a739fe7b511 g.chr17:73206052G>T ENST00000245544.4 + 3 333 c.262G>T c.(262-264)Gag>Tag p.E88* NUP85_ENST00000541827.1_Nonsense_Mutation_p.E42*|NUP85_ENST00000447371.2_5'UTR|NUP85_ENST00000579324.1_5'UTR|NUP85_ENST00000579298.1_Nonsense_Mutation_p.E88*|NUP85_ENST00000449421.2_3'UTR NM_024844.3 NP_079120.1 Q9BW27 NUP85_HUMAN nucleoporin 85kDa 88 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|nuclear membrane|Nup107-160 complex|spindle protein binding endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 16 all_lung(278;0.14)|Lung NSC(278;0.168) all cancers(21;3.45e-06) AATTGACGAAGAGTTGACTGG 0.403000 14 49 1.67942e-08 2.09927e-08 0.539581 1 0 TROAP 10024 broad.mit.edu 37 12 49724607 49724607 + Missense_Mutation SNP C C T TCGA-55-7573-01A-11D-2036-08 TCGA-55-7573-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36b5181b-9b59-428a-9c0e-45ac9e0d1674 4cc8017b-3238-4cf0-9c04-4a739fe7b511 g.chr12:49724607C>T ENST00000551245.1 + 13 2090 c.1979C>T c.(1978-1980)cCc>cTc p.P660L TROAP_ENST00000257909.3_Missense_Mutation_p.P660L|TROAP_ENST00000547923.1_Missense_Mutation_p.P339L Q12815 TROAP_HUMAN trophinin associated protein 660 Cys-rich. cell adhesion cytoplasm breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 32 AGTCTACCACCCTGCTGCAGT 0.607000 21 127 0 0 0.608945 0 0 L3MBTL3 84456 broad.mit.edu 37 6 130425623 130425623 + Missense_Mutation SNP C C A TCGA-55-7573-01A-11D-2036-08 TCGA-55-7573-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36b5181b-9b59-428a-9c0e-45ac9e0d1674 4cc8017b-3238-4cf0-9c04-4a739fe7b511 g.chr6:130425623C>A ENST00000529410.1 + 21 2268 c.1789C>A c.(1789-1791)Cca>Aca p.P597T L3MBTL3_ENST00000526019.1_Missense_Mutation_p.P572T|L3MBTL3_ENST00000368136.2_Missense_Mutation_p.P597T|L3MBTL3_ENST00000368139.2_Missense_Mutation_p.P572T|L3MBTL3_ENST00000361794.2_Missense_Mutation_p.P597T|L3MBTL3_ENST00000533560.1_Missense_Mutation_p.P572T Q96JM7 LMBL3_HUMAN l(3)mbt-like 3 (Drosophila) 597 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1) 43 GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154) CCGTATTTTTCCAGACCGCTT 0.378000 35 48 2.66277e-13 3.84053e-13 0.827153 1 0 ZNF148 7707 broad.mit.edu 37 3 124951371 124951371 + Missense_Mutation SNP G G C TCGA-55-7573-01A-11D-2036-08 TCGA-55-7573-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36b5181b-9b59-428a-9c0e-45ac9e0d1674 4cc8017b-3238-4cf0-9c04-4a739fe7b511 g.chr3:124951371G>C ENST00000360647.4 - 9 2684 c.2199C>G c.(2197-2199)ttC>ttG p.F733L ZNF148_ENST00000492394.1_Missense_Mutation_p.F733L|ZNF148_ENST00000468369.1_Missense_Mutation_p.F83L|ZNF148_ENST00000544464.1_Missense_Mutation_p.F70L|SLC12A8_ENST00000423114.2_Intron|ZNF148_ENST00000484491.1_Missense_Mutation_p.F733L|ZNF148_ENST00000497929.1_5'UTR|ZNF148_ENST00000485866.1_Missense_Mutation_p.F733L NM_021964.2 NP_068799.2 Q9UQR1 ZN148_HUMAN zinc finger protein 148 733 cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter Golgi apparatus|nucleus protein binding|sequence-specific DNA binding|zinc ion binding breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3) 28 AGGGAGCACGGAAGGGCTGTT 0.493000 22 61 0 0 0.592651 0 0 PRR12 57479 broad.mit.edu 37 19 50099261 50099261 + Missense_Mutation SNP G G T TCGA-55-7573-01A-11D-2036-08 TCGA-55-7573-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36b5181b-9b59-428a-9c0e-45ac9e0d1674 4cc8017b-3238-4cf0-9c04-4a739fe7b511 g.chr19:50099261G>T ENST00000418929.2 + 4 1681 c.1669G>T c.(1669-1671)Ggt>Tgt p.G557C NM_020719.1 NP_065770.1 Q9ULL5 PRR12_HUMAN proline rich 12 330 Pro-rich. DNA binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2) 11 all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132) GGGAGGCGGCGGTGAGGCCAG 0.692000 12 41 7.03913e-09 9.10232e-09 0.411799 1 0 DNAJB6 10049 broad.mit.edu 37 7 157174955 157174955 + Missense_Mutation SNP A A T TCGA-55-7573-01A-11D-2036-08 TCGA-55-7573-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36b5181b-9b59-428a-9c0e-45ac9e0d1674 4cc8017b-3238-4cf0-9c04-4a739fe7b511 g.chr7:157174955A>T ENST00000262177.4 + 6 567 c.362A>T c.(361-363)gAc>gTc p.D121V DNAJB6_ENST00000452797.2_Missense_Mutation_p.D72V|DNAJB6_ENST00000429029.2_Missense_Mutation_p.D121V|DNAJB6_ENST00000443280.1_Intron NM_058246.3 NP_490647.1 O75190 DNJB6_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 6 121 Gly/Phe-rich.|Interaction with HSP70.|Interaction with KRT18. intermediate filament organization|negative regulation of caspase activity|protein folding|response to unfolded protein nucleus|perinuclear region of cytoplasm ATPase activator activity|chaperone binding|heat shock protein binding|unfolded protein binding central_nervous_system(1)|lung(1)|ovary(2)|stomach(1) 5 all_neural(206;0.181) all_epithelial(9;0.000606)|all_hematologic(28;0.00287)|Acute lymphoblastic leukemia(9;0.0647)|Ovarian(593;0.196) OV - Ovarian serous cystadenocarcinoma(82;0.00399) UCEC - Uterine corpus endometrioid carcinoma (81;0.172) CCTTTTGAGGACTTCTTTGGG 0.418000 11 39 0 0 0.361761 0 0 GPRIN2 9721 broad.mit.edu 37 10 46999116 46999116 + Missense_Mutation SNP G G T TCGA-55-7573-01A-11D-2036-08 TCGA-55-7573-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36b5181b-9b59-428a-9c0e-45ac9e0d1674 4cc8017b-3238-4cf0-9c04-4a739fe7b511 g.chr10:46999116G>T ENST00000374314.4 + 1 1191 c.236G>T c.(235-237)gGc>gTc p.G79V GPRIN2_ENST00000374317.1_Missense_Mutation_p.G79V O60269 GRIN2_HUMAN G protein regulated inducer of neurite outgrowth 2 79 breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1) 18 CGGGCCTCTGGCCCCAAGGCG 0.701000 4 51 0.150653 0.154781 0.150653 1 0 ZFHX4 79776 broad.mit.edu 37 8 77617547 77617547 + Silent SNP G G C rs13250763 TCGA-55-7573-01A-11D-2036-08 TCGA-55-7573-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36b5181b-9b59-428a-9c0e-45ac9e0d1674 4cc8017b-3238-4cf0-9c04-4a739fe7b511 g.chr8:77617547G>C ENST00000521891.2 + 2 1672 c.1224G>C c.(1222-1224)ctG>ctC p.L408L ZFHX4_ENST00000518282.1_Silent_p.L408L|ZFHX4_ENST00000050961.6_Silent_p.L408L|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000455469.2_Silent_p.L408L NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 408 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) AAGTGAATCTGGGGGGGCTGT 0.537000 HNSCC(33;0.089) 7 16 0 0 0.248553 0 0 DNAH8 1769 broad.mit.edu 37 6 38843499 38843499 + Missense_Mutation SNP G G A TCGA-55-7573-01A-11D-2036-08 TCGA-55-7573-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36b5181b-9b59-428a-9c0e-45ac9e0d1674 4cc8017b-3238-4cf0-9c04-4a739fe7b511 g.chr6:38843499G>A ENST00000359357.3 + 51 7356 c.7102G>A c.(7102-7104)Gaa>Aaa p.E2368K DNAH8_ENST00000441566.1_Missense_Mutation_p.E2332K|DNAH8_ENST00000449981.2_Missense_Mutation_p.E2585K dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 AGAAAGCAGAGAAAAGCTTGA 0.398000 4 43 0 0 0.217242 0 0 TECRL 253017 broad.mit.edu 37 4 65274985 65274985 + Missense_Mutation SNP C C A TCGA-55-7573-01A-11D-2036-08 TCGA-55-7573-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36b5181b-9b59-428a-9c0e-45ac9e0d1674 4cc8017b-3238-4cf0-9c04-4a739fe7b511 g.chr4:65274985C>A ENST00000381210.3 - 1 195 c.85G>T c.(85-87)Gat>Tat p.D29Y TECRL_ENST00000507440.1_Missense_Mutation_p.D29Y NM_001010874.4 NP_001010874.2 Q5HYJ1 TECRL_HUMAN trans-2,3-enoyl-CoA reductase-like 29 lipid metabolic process cytoplasm|integral to membrane oxidoreductase activity, acting on the CH-CH group of donors endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1) 47 TTTCTCATATCATCCTTCAGT 0.428000 13 54 3.27435e-08 4.02584e-08 0.457914 1 0 CCDC57 284001 broad.mit.edu 37 17 80146200 80146200 + Missense_Mutation SNP C C T TCGA-55-7573-01A-11D-2036-08 TCGA-55-7573-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36b5181b-9b59-428a-9c0e-45ac9e0d1674 4cc8017b-3238-4cf0-9c04-4a739fe7b511 g.chr17:80146200C>T ENST00000389641.4 - 7 983 c.947G>A c.(946-948)aGg>aAg p.R316K CCDC57_ENST00000392343.3_Missense_Mutation_p.R316K|CCDC57_ENST00000392347.1_Missense_Mutation_p.R316K Q2TAC2 CCD57_HUMAN coiled-coil domain containing 57 316 endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1) 16 Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227) BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253) CTCCAGAACCCTGGTCTGCAG 0.652000 4 12 0 0 0.150653 0 0 KIDINS220 57498 broad.mit.edu 37 2 8919861 8919861 + Silent SNP G G A TCGA-55-7573-01A-11D-2036-08 TCGA-55-7573-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36b5181b-9b59-428a-9c0e-45ac9e0d1674 4cc8017b-3238-4cf0-9c04-4a739fe7b511 g.chr2:8919861G>A ENST00000256707.3 - 18 2494 c.2313C>T c.(2311-2313)gtC>gtT p.V771V KIDINS220_ENST00000427284.1_Silent_p.V771V|KIDINS220_ENST00000473731.1_Silent_p.V771V|KIDINS220_ENST00000418530.1_Silent_p.V729V|KIDINS220_ENST00000319688.5_Silent_p.V772V NM_020738.2 NP_065789.1 Q9ULH0 KDIS_HUMAN kinase D-interacting substrate, 220kDa 771 KAP NTPase. activation of MAPKK activity|nerve growth factor receptor signaling pathway cytosol|integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 60 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) CATCGATGATGACCACCAGCC 0.463000 11 33 0 0 0.387290 0 0 LETM2 137994 broad.mit.edu 37 8 38250462 38250462 + Missense_Mutation SNP G G T TCGA-55-7573-01A-11D-2036-08 TCGA-55-7573-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36b5181b-9b59-428a-9c0e-45ac9e0d1674 4cc8017b-3238-4cf0-9c04-4a739fe7b511 g.chr8:38250462G>T ENST00000519476.2 + 3 750 c.450G>T c.(448-450)atG>atT p.M150I LETM2_ENST00000297720.5_Missense_Mutation_p.M103I|LETM2_ENST00000524874.1_Missense_Mutation_p.M150I|LETM2_ENST00000523983.2_Missense_Mutation_p.M103I|LETM2_ENST00000379957.4_Missense_Mutation_p.M150I Q2VYF4 LETM2_HUMAN leucine zipper-EF-hand containing transmembrane protein 2 150 LETM1. integral to membrane|mitochondrial inner membrane NS(1)|large_intestine(1)|lung(3)|prostate(2) 7 all_cancers(2;6.77e-47)|all_epithelial(2;1.01e-50)|all_lung(3;1.25e-23)|Lung NSC(2;2.76e-23)|Colorectal(12;0.000442)|Esophageal squamous(3;0.00202) all_lung(54;0.0657)|Hepatocellular(245;0.152)|Lung NSC(58;0.175) Epithelial(3;1.17e-42)|all cancers(3;5.44e-38)|BRCA - Breast invasive adenocarcinoma(5;5.44e-27)|LUSC - Lung squamous cell carcinoma(2;7.12e-25)|Lung(2;4.49e-22)|COAD - Colon adenocarcinoma(9;0.114) CTGCCAGAATGGTTTGGAGGC 0.373000 9 15 1.11149e-13 1.70126e-13 0.361761 1 0 SDCCAG3 10807 broad.mit.edu 37 9 139301868 139301868 + Missense_Mutation SNP C C A TCGA-55-7573-01A-11D-2036-08 TCGA-55-7573-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36b5181b-9b59-428a-9c0e-45ac9e0d1674 4cc8017b-3238-4cf0-9c04-4a739fe7b511 g.chr9:139301868C>A ENST00000298537.7 - 4 690 c.479G>T c.(478-480)gGa>gTa p.G160V SDCCAG3_ENST00000371725.3_Missense_Mutation_p.G110V|SDCCAG3_ENST00000357365.3_Missense_Mutation_p.G183V NM_006643.3 NP_006634.3 Q96C92 SDCG3_HUMAN serologically defined colon cancer antigen 3 183 cytoplasm NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9) 16 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;8.18e-06)|Epithelial(140;9.31e-06) CCCACTCCATCCGGTGTCCTC 0.622000 5 21 1.23904e-05 1.42966e-05 0.184627 1 0 PLD6 201164 broad.mit.edu 37 17 17106252 17106252 + Silent SNP C C A TCGA-55-7573-01A-11D-2036-08 TCGA-55-7573-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36b5181b-9b59-428a-9c0e-45ac9e0d1674 4cc8017b-3238-4cf0-9c04-4a739fe7b511 g.chr17:17106252C>A ENST00000321560.3 - 2 616 c.588G>T c.(586-588)cgG>cgT p.R196R RP11-45M22.4_ENST00000427497.3_3'UTR NM_178836.3 NP_849158.2 Q8N2A8 PLD6_HUMAN phospholipase D family, member 6 196 DNA methylation involved in gamete generation|lipid catabolic process|meiosis|mitochondrial fusion|P granule organization|piRNA metabolic process|spermatid development integral to membrane|mitochondrial outer membrane cardiolipin hydrolase activity|protein homodimerization activity endometrium(1)|lung(1) 2 CCAGAAAAAGCCGCACGTACT 0.507000 21 43 3.62473e-10 4.94282e-10 0.608945 1 0 TP53 7157 broad.mit.edu 37 17 7578526 7578526 + Missense_Mutation SNP C C A TCGA-55-7573-01A-11D-2036-08 TCGA-55-7573-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36b5181b-9b59-428a-9c0e-45ac9e0d1674 4cc8017b-3238-4cf0-9c04-4a739fe7b511 g.chr17:7578526C>A ENST00000420246.2 - 5 536 c.404G>T c.(403-405)tGc>tTc p.C135F TP53_ENST00000445888.2_Missense_Mutation_p.C135F|TP53_ENST00000359597.4_Missense_Mutation_p.C135F|TP53_ENST00000455263.2_Missense_Mutation_p.C135F|TP53_ENST00000269305.4_Missense_Mutation_p.C135F|TP53_ENST00000413465.2_Missense_Mutation_p.C135F NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 135 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> T (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation; decreased E6-mediated binding to E6-AP). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|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|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.C135Y(60)|p.C135F(43)|p.C135S(8)|p.0?(8)|p.C42Y(4)|p.C3Y(4)|p.C135fs*9(3)|p.N131fs*27(2)|p.C3F(2)|p.C42F(2)|p.F134_T140>S(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.C135T(1)|p.V73fs*9(1)|p.C135fs*15(1)|p.C135fs*14(1)|p.Y126fs*11(1)|p.C3fs*9(1)|p.C42fs*9(1)|p.C135_A138delCQLA(1)|p.C42S(1)|p.M133fs*13(1)|p.C3S(1)|p.C135_T140delCQLAKT(1)|p.Q136fs*13(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GGCCAGTTGGCAAAACATCTT 0.572000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 10 28 7.48243e-07 8.76847e-07 0.335167 1 0 KIAA1109 84162 broad.mit.edu 37 4 123192658 123192658 + Missense_Mutation SNP G G A TCGA-55-7573-01A-11D-2036-08 TCGA-55-7573-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36b5181b-9b59-428a-9c0e-45ac9e0d1674 4cc8017b-3238-4cf0-9c04-4a739fe7b511 g.chr4:123192658G>A ENST00000264501.4 + 47 8352 c.7979G>A c.(7978-7980)aGa>aAa p.R2660K KIAA1109_ENST00000388738.3_Missense_Mutation_p.R2660K|KIAA1109_ENST00000455637.1_Missense_Mutation_p.R2660K Q2LD37 K1109_HUMAN KIAA1109 2660 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3) 172 TCATTAGGAAGATCTGAAAGA 0.353000 4 20 0 0 0.150653 0 0 GPA33 10223 broad.mit.edu 37 1 167042703 167042703 + Silent SNP G G A TCGA-55-7573-01A-11D-2036-08 TCGA-55-7573-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36b5181b-9b59-428a-9c0e-45ac9e0d1674 4cc8017b-3238-4cf0-9c04-4a739fe7b511 g.chr1:167042703G>A ENST00000367868.3 - 2 460 c.117C>T c.(115-117)gtC>gtT p.V39V GPA33_ENST00000527955.1_5'UTR NM_005814.1 NP_005805.1 Q99795 GPA33_HUMAN glycoprotein A33 (transmembrane) 39 Ig-like V-type. integral to plasma membrane receptor activity endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 15 AGGGCAGGGTGACACTCTTTC 0.532000 12 33 0 0 0.411799 0 0 GRID1 2894 broad.mit.edu 37 10 87373269 87373269 + Silent SNP G G A TCGA-55-7573-01A-11D-2036-08 TCGA-55-7573-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36b5181b-9b59-428a-9c0e-45ac9e0d1674 4cc8017b-3238-4cf0-9c04-4a739fe7b511 g.chr10:87373269G>A ENST00000327946.7 - 15 2581 c.2496C>T c.(2494-2496)gcC>gcT p.A832A GRID1_ENST00000536331.1_Silent_p.A403A NM_017551.2 NP_060021.1 Q9ULK0 GRID1_HUMAN glutamate receptor, ionotropic, delta 1 832 cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5) 106 L-Glutamic Acid(DB00142) AGAAGACCCCGGCGAAGCTGT 0.657000 Multiple Myeloma(13;0.14) 4 60 0 0 0.150653 0 0 BRWD3 254065 broad.mit.edu 37 X 80047410 80047410 + Silent SNP G G A TCGA-55-7573-01A-11D-2036-08 TCGA-55-7573-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36b5181b-9b59-428a-9c0e-45ac9e0d1674 4cc8017b-3238-4cf0-9c04-4a739fe7b511 g.chrX:80047410G>A ENST00000373275.4 - 6 589 c.373C>T c.(373-375)Ctg>Ttg p.L125L NM_153252.4 NP_694984.4 Q6RI45 BRWD3_HUMAN bromodomain and WD repeat domain containing 3 125 breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3) 87 CCTCTATGCAGAGCCGCAAAA 0.373000 4 17 0 0 0.248553 0 0 CEP72 55722 broad.mit.edu 37 5 639251 639251 + Silent SNP G G T TCGA-55-7573-01A-11D-2036-08 TCGA-55-7573-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36b5181b-9b59-428a-9c0e-45ac9e0d1674 4cc8017b-3238-4cf0-9c04-4a739fe7b511 g.chr5:639251G>T ENST00000264935.5 + 8 1344 c.1254G>T c.(1252-1254)ctG>ctT p.L418L CEP72_ENST00000444221.1_3'UTR NM_018140.3 NP_060610.2 Q9P209 CEP72_HUMAN centrosomal protein 72kDa 418 G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization centrosome|cytosol autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2) 20 Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863) AGACGGCCCTGCAGGCGGCGC 0.632000 19 53 1.67942e-08 2.09927e-08 0.539581 1 0 AFF2 2334 broad.mit.edu 37 X 148055037 148055037 + Missense_Mutation SNP G G T TCGA-55-7573-01A-11D-2036-08 TCGA-55-7573-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36b5181b-9b59-428a-9c0e-45ac9e0d1674 4cc8017b-3238-4cf0-9c04-4a739fe7b511 g.chrX:148055037G>T ENST00000370460.2 + 16 3783 c.3304G>T c.(3304-3306)Gcc>Tcc p.A1102S AFF2_ENST00000286437.5_Missense_Mutation_p.A743S|AFF2_ENST00000370457.5_Missense_Mutation_p.A1067S|AFF2_ENST00000342251.3_Missense_Mutation_p.A1069S NM_001169123.1|NM_002025.3 NP_001162594.1|NP_002016.2 P51816 AFF2_HUMAN AF4/FMR2 family, member 2 1102 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 109 Acute lymphoblastic leukemia(192;6.56e-05) TTATGCTGATGCCGCCCTCTC 0.468000 20 48 2.37509e-13 3.49278e-13 0.592651 1 0 SLC36A4 120103 broad.mit.edu 37 11 92881884 92881884 + Missense_Mutation SNP T T C TCGA-55-7573-01A-11D-2036-08 TCGA-55-7573-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36b5181b-9b59-428a-9c0e-45ac9e0d1674 4cc8017b-3238-4cf0-9c04-4a739fe7b511 g.chr11:92881884T>C ENST00000326402.4 - 11 1464 c.1334A>G c.(1333-1335)tAt>tGt p.Y445C SLC36A4_ENST00000529184.1_Missense_Mutation_p.Y310C NM_152313.2 NP_689526.2 Q6YBV0 S36A4_HUMAN solute carrier family 36 (proton/amino acid symporter), member 4 445 L-alanine transport|proline transport|tryptophan transport integral to membrane symporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 25 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) CCATATATTATAATGTTCCTT 0.358000 13 25 0 0 0.479597 0 0 CUL1 8454 broad.mit.edu 37 7 148497609 148497609 + Missense_Mutation SNP C C G TCGA-55-7573-01A-11D-2036-08 TCGA-55-7573-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36b5181b-9b59-428a-9c0e-45ac9e0d1674 4cc8017b-3238-4cf0-9c04-4a739fe7b511 g.chr7:148497609C>G ENST00000325222.4 + 22 2545 c.2266C>G c.(2266-2268)Cta>Gta p.L756V CUL1_ENST00000602748.1_Missense_Mutation_p.L756V|CUL1_ENST00000409469.1_Missense_Mutation_p.L756V NM_003592.2 NP_003583.2 Q13616 CUL1_HUMAN cullin 1 756 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process cytosol|nucleoplasm|SCF ubiquitin ligase complex ubiquitin protein ligase binding breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 40 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00291) CATTGACATTCTAATTGAGAA 0.428000 9 32 0 0 0.307466 0 0 ZFHX4 79776 broad.mit.edu 37 8 77617548 77617548 + Missense_Mutation SNP G G T TCGA-55-7573-01A-11D-2036-08 TCGA-55-7573-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36b5181b-9b59-428a-9c0e-45ac9e0d1674 4cc8017b-3238-4cf0-9c04-4a739fe7b511 g.chr8:77617548G>T ENST00000521891.2 + 2 1673 c.1225G>T c.(1225-1227)Ggg>Tgg p.G409W ZFHX4_ENST00000518282.1_Missense_Mutation_p.G409W|ZFHX4_ENST00000050961.6_Missense_Mutation_p.G409W|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000455469.2_Missense_Mutation_p.G409W NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 409 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) AGTGAATCTGGGGGGGCTGTC 0.537000 HNSCC(33;0.089) 7 15 0.0293803 0.0306045 0.248553 1 0 PKD1L1 168507 broad.mit.edu 37 7 47882684 47882684 + Missense_Mutation SNP A A G TCGA-55-7573-01A-11D-2036-08 TCGA-55-7573-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36b5181b-9b59-428a-9c0e-45ac9e0d1674 4cc8017b-3238-4cf0-9c04-4a739fe7b511 g.chr7:47882684A>G ENST00000289672.2 - 34 5371 c.5321T>C c.(5320-5322)gTa>gCa p.V1774A NM_138295.3 NP_612152.1 Q8TDX9 PK1L1_HUMAN polycystic kidney disease 1 like 1 1774 cell-cell adhesion integral to membrane BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 ATGATGATCTACTTGTCTACT 0.413000 6 23 0 0 0.248553 0 0 EXTL1 2134 broad.mit.edu 37 1 26357639 26357639 + Missense_Mutation SNP T T G TCGA-55-7573-01A-11D-2036-08 TCGA-55-7573-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36b5181b-9b59-428a-9c0e-45ac9e0d1674 4cc8017b-3238-4cf0-9c04-4a739fe7b511 g.chr1:26357639T>G ENST00000374280.3 + 5 1985 c.1118T>G c.(1117-1119)aTt>aGt p.I373S EXTL1_ENST00000484339.1_3'UTR NM_004455.2 NP_004446.2 Q92935 EXTL1_HUMAN exostosin-like glycosyltransferase 1 373 skeletal system development integral to membrane|intrinsic to endoplasmic reticulum membrane glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1) 23 Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649) CAGGACCGGATTTTTGGAACA 0.587000 21 92 0 0 0.624587 0 0 TTI1 9675 broad.mit.edu 37 20 36641109 36641109 + Silent SNP G G A TCGA-55-7573-01A-11D-2036-08 TCGA-55-7573-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36b5181b-9b59-428a-9c0e-45ac9e0d1674 4cc8017b-3238-4cf0-9c04-4a739fe7b511 g.chr20:36641109G>A ENST00000373448.2 - 3 1348 c.1110C>T c.(1108-1110)ctC>ctT p.L370L TTI1_ENST00000449821.1_Silent_p.L370L|TTI1_ENST00000487362.1_Intron|TTI1_ENST00000373447.3_Silent_p.L370L NM_014657.1 NP_055472.1 O43156 TTI1_HUMAN TELO2 interacting protein 1 370 binding breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3) 47 AGATGTCAGCGAGGGCTTTGT 0.458000 15 136 0 0 0.592651 0 0 FTSJ2 29960 broad.mit.edu 37 7 2279318 2279318 + Silent SNP G G A TCGA-55-7573-01A-11D-2036-08 TCGA-55-7573-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36b5181b-9b59-428a-9c0e-45ac9e0d1674 4cc8017b-3238-4cf0-9c04-4a739fe7b511 g.chr7:2279318G>A ENST00000440306.2 - 2 68 c.33C>T c.(31-33)tcC>tcT p.S11S FTSJ2_ENST00000486040.1_5'UTR|FTSJ2_ENST00000242257.8_Silent_p.S11S Q9UI43 RRMJ2_HUMAN FtsJ RNA methyltransferase homolog 2 (E. coli) 11 cell proliferation mitochondrion|nucleolus nucleic acid binding|rRNA (uridine-2'-O-)-methyltransferase activity endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 12 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.7e-14) GACGCTGAAAGGAAACACACA 0.577000 13 86 0 0 0.539581 0 0 EGFR 1956 broad.mit.edu 37 7 55242490 55242490 + Missense_Mutation SNP A A G rs121913463 TCGA-55-7573-01A-11D-2036-08 TCGA-55-7573-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36b5181b-9b59-428a-9c0e-45ac9e0d1674 4cc8017b-3238-4cf0-9c04-4a739fe7b511 g.chr7:55242490A>G ENST00000275493.2 + 19 2437 c.2260A>G c.(2260-2262)Aaa>Gaa p.K754E EGFR_ENST00000455089.1_Missense_Mutation_p.K709E|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Missense_Mutation_p.K701E NM_005228.3 NP_005219.2 P00533 EGFR_HUMAN epidermal growth factor receptor 754 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.S752_I759del(13)|p.T751_I759>N(8)|p.T751_I759>S(3)|p.T751_I759del(2)|p.A750_E758>P(2)|p.L747_K754del(2)|p.K754E(2)|p.L747_K754>ST(1)|p.K754A(1)|p.A750_E758del(1)|p.T751_I759>REA(1)|p.A750_K754del(1)|p.T751_E758del(1)|p.L747_K754>N(1)|p.P753_I759del(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) AACATCTCCGAAAGCCAACAA 0.493000 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 9 34 0 0 0.335167 0 0 DLG3 1741 broad.mit.edu 37 X 69719800 69719800 + Missense_Mutation SNP G G A TCGA-55-7573-01A-11D-2036-08 TCGA-55-7573-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36b5181b-9b59-428a-9c0e-45ac9e0d1674 4cc8017b-3238-4cf0-9c04-4a739fe7b511 g.chrX:69719800G>A ENST00000194900.4 + 18 2483 c.2142G>A c.(2140-2142)atG>atA p.M714I DLG3_ENST00000461646.1_3'UTR|DLG3_ENST00000374355.3_Missense_Mutation_p.M377I|DLG3_ENST00000542398.1_Missense_Mutation_p.M231I|DLG3_ENST00000374360.3_Missense_Mutation_p.M682I Q92796 DLG3_HUMAN discs, large homolog 3 (Drosophila) 682 Guanylate kinase-like. axon guidance|negative regulation of cell proliferation|synaptic transmission plasma membrane guanylate kinase activity endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1) 22 Renal(35;0.156) GAGAACAAATGGAGAAAGATA 0.488000 5 26 0 0 0.184627 0 0 GTF3C4 9329 broad.mit.edu 37 9 135553884 135553884 + Missense_Mutation SNP C C T TCGA-55-7573-01A-11D-2036-08 TCGA-55-7573-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36b5181b-9b59-428a-9c0e-45ac9e0d1674 4cc8017b-3238-4cf0-9c04-4a739fe7b511 g.chr9:135553884C>T ENST00000372146.4 + 2 1442 c.878C>T c.(877-879)cCg>cTg p.P293L GTF3C4_ENST00000483873.2_Intron NM_012204.2 NP_036336.2 Q9UKN8 TF3C4_HUMAN general transcription factor IIIC, polypeptide 4, 90kDa 293 transcription initiation from RNA polymerase III promoter transcription factor TFIIIC complex DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1) 20 OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05) TTTCAGCTGCCGTTTGTAGGA 0.473000 6 50 0 0 0.217242 0 0 ZDBF2 57683 broad.mit.edu 37 2 207170309 207170309 + Missense_Mutation SNP T T C TCGA-55-7573-01A-11D-2036-08 TCGA-55-7573-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36b5181b-9b59-428a-9c0e-45ac9e0d1674 4cc8017b-3238-4cf0-9c04-4a739fe7b511 g.chr2:207170309T>C ENST00000374423.3 + 5 1443 c.1057T>C c.(1057-1059)Ttt>Ctt p.F353L NM_020923.1 NP_065974.1 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 353 nucleic acid binding|zinc ion binding endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 CAAGACAGCCTTTTGGGAACA 0.388000 11 39 0 0 0.411799 0 0 NBPF14 25832 broad.mit.edu 37 1 148009403 148009403 + Missense_Mutation SNP T T C TCGA-55-7573-01A-11D-2036-08 TCGA-55-7573-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36b5181b-9b59-428a-9c0e-45ac9e0d1674 4cc8017b-3238-4cf0-9c04-4a739fe7b511 g.chr1:148009403T>C ENST00000369219.1 - 16 1920 c.1904A>G c.(1903-1905)tAc>tGc p.Y635C Q5TI25 NBPFE_HUMAN neuroblastoma breakpoint family, member 14 635 NBPF 7. cytoplasm NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1) 42 all_hematologic(923;0.032) GGCACTTCTGTAGGGCTGGCA 0.468000 31 341 0 0 0.796494 0 0 ITGA1 3672 broad.mit.edu 37 5 52235460 52235460 + Missense_Mutation SNP G G A TCGA-55-7573-01A-11D-2036-08 TCGA-55-7573-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36b5181b-9b59-428a-9c0e-45ac9e0d1674 4cc8017b-3238-4cf0-9c04-4a739fe7b511 g.chr5:52235460G>A ENST00000282588.6 + 25 3577 c.3119G>A c.(3118-3120)aGt>aAt p.S1040N CTD-2175A23.1_ENST00000505701.1_RNA|CTD-2175A23.1_ENST00000503559.1_RNA NM_181501.1 NP_852478.1 P56199 ITA1_HUMAN integrin, alpha 1 1040 axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction integrin complex collagen binding|receptor activity NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(810;5.05e-05)|Breast(144;0.0851) GATCCTTTCAGTATCAACTCT 0.358000 5 20 0 0 0.217242 0 0 BIRC8 112401 broad.mit.edu 37 19 53793270 53793270 + Missense_Mutation SNP G G C rs113838023 byFrequency TCGA-55-7573-01A-11D-2036-08 TCGA-55-7573-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36b5181b-9b59-428a-9c0e-45ac9e0d1674 4cc8017b-3238-4cf0-9c04-4a739fe7b511 g.chr19:53793270G>C ENST00000426466.1 - 1 1605 c.358C>G c.(358-360)Cga>Gga p.R120G NM_033341.4 NP_203127.3 Q96P09 BIRC8_HUMAN baculoviral IAP repeat containing 8 120 apoptosis zinc ion binding p.R120*(1) NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|urinary_tract(1) 19 GBM - Glioblastoma multiforme(134;0.00304) AATCCCATTCGTATAGCTTCT 0.383000 16 81 0 0 0.479597 0 0 NCOR1 9611 broad.mit.edu 37 17 16024509 16024509 + Missense_Mutation SNP C C A TCGA-55-7573-01A-11D-2036-08 TCGA-55-7573-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36b5181b-9b59-428a-9c0e-45ac9e0d1674 4cc8017b-3238-4cf0-9c04-4a739fe7b511 g.chr17:16024509C>A ENST00000268712.3 - 16 1966 c.1709G>T c.(1708-1710)cGg>cTg p.R570L NCOR1_ENST00000583226.1_5'UTR|NCOR1_ENST00000395851.1_Missense_Mutation_p.R570L|NCOR1_ENST00000395848.1_Missense_Mutation_p.R461L NM_006311.3 NP_006302.2 O75376 NCOR1_HUMAN nuclear receptor corepressor 1 570 cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter nuclear chromatin|spindle microtubule|transcriptional repressor complex histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10) 107 UCEC - Uterine corpus endometrioid carcinoma (92;0.101) CTTTCGCCCCCGGGGTGTGGC 0.537000 32 84 9.65963e-10 1.2937e-09 0.779181 1 0 TNK2 10188 broad.mit.edu 37 3 195593860 195593860 + Missense_Mutation SNP G G A TCGA-55-7573-01A-11D-2036-08 TCGA-55-7573-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36b5181b-9b59-428a-9c0e-45ac9e0d1674 4cc8017b-3238-4cf0-9c04-4a739fe7b511 g.chr3:195593860G>A ENST00000333602.6 - 14 3627 c.3010C>T c.(3010-3012)Cgg>Tgg p.R1004W TNK2_ENST00000428187.1_Missense_Mutation_p.R1006W|TNK2_ENST00000392400.1_Missense_Mutation_p.R1004W|TNK2_ENST00000381916.2_Missense_Mutation_p.R1052W NM_005781.4 NP_005772.3 Q07912 ACK1_HUMAN tyrosine kinase, non-receptor, 2 1004 Missing (in Ref. 4; AAH08884). positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction adherens junction|cytoplasmic vesicle membrane|endosome|nucleus ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1) 29 all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;0.000757) Adenosine triphosphate(DB00171) CCTCTGGGCCGCAGACCCAGC 0.682000 3 30 0 0 0.115264 0 0 SCFD2 152579 broad.mit.edu 37 4 53786890 53786890 + Splice_Site SNP G G A TCGA-55-7573-01A-11D-2036-08 TCGA-55-7573-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36b5181b-9b59-428a-9c0e-45ac9e0d1674 4cc8017b-3238-4cf0-9c04-4a739fe7b511 g.chr4:53786890G>A ENST00000401642.3 - 6 1841 c.e6+1 SCFD2_ENST00000388940.4_Splice_Site NM_152540.3 NP_689753.2 Q8WU76 SCFD2_HUMAN sec1 family domain containing 2 protein transport|vesicle docking involved in exocytosis breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 30 GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134) GTATATACTTGCCTGGTGGGT 0.393000 6 46 0 0 0.217242 0 0 ZNRD1-AS1 80862 broad.mit.edu 37 6 29977342 29977342 + RNA SNP A A T rs116382006 by1000genomes TCGA-55-7573-01A-11D-2036-08 TCGA-55-7573-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36b5181b-9b59-428a-9c0e-45ac9e0d1674 4cc8017b-3238-4cf0-9c04-4a739fe7b511 g.chr6:29977342A>T ENST00000376797.3 - 0 731 ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA TGGGACTGAGAGGCAAGATTT 0.438000 3 53 0 0 0.150653 0 0 SNX8 29886 broad.mit.edu 37 7 2309240 2309240 + Missense_Mutation SNP C C A TCGA-55-7573-01A-11D-2036-08 TCGA-55-7573-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36b5181b-9b59-428a-9c0e-45ac9e0d1674 4cc8017b-3238-4cf0-9c04-4a739fe7b511 g.chr7:2309240C>A ENST00000222990.3 - 5 617 c.575G>T c.(574-576)tGc>tTc p.C192F NM_013321.2 NP_037453.1 Q9Y5X2 SNX8_HUMAN sorting nexin 8 192 cell communication|early endosome to Golgi transport|intracellular protein transport early endosome membrane phosphatidylinositol binding|protein binding breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(2)|skin(3) 26 Ovarian(82;0.11) UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14) GTCCCCGACGCACTGTGCTGA 0.393000 7 28 1.26484e-09 1.66427e-09 0.278610 1 0 HLA-A 3105 broad.mit.edu 37 6 29910607 29910607 + Silent SNP G G C rs72555397 TCGA-55-7573-01A-11D-2036-08 TCGA-55-7573-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36b5181b-9b59-428a-9c0e-45ac9e0d1674 4cc8017b-3238-4cf0-9c04-4a739fe7b511 g.chr6:29910607G>C ENST00000396634.1 + 4 488 c.147G>C c.(145-147)gtG>gtC p.V49V HLA-A_ENST00000376806.5_Silent_p.V49V|HLA-A_ENST00000376809.5_Silent_p.V49V|HLA-A_ENST00000376802.2_Silent_p.V49V P30443 1A01_HUMAN major histocompatibility complex, class I, A 49 Alpha-1. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway integral to plasma membrane|MHC class I protein complex MHC class I receptor activity p.V49V(2) central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 30 TCATCGCCGTGGGCTACGTGG 0.692000 Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of Multiple Myeloma(9;0.094) 8 32 0 0 0.307466 0 0 KIAA1109 84162 broad.mit.edu 37 4 123192663 123192663 + Missense_Mutation SNP G G A TCGA-55-7573-01A-11D-2036-08 TCGA-55-7573-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36b5181b-9b59-428a-9c0e-45ac9e0d1674 4cc8017b-3238-4cf0-9c04-4a739fe7b511 g.chr4:123192663G>A ENST00000264501.4 + 47 8357 c.7984G>A c.(7984-7986)Gaa>Aaa p.E2662K KIAA1109_ENST00000388738.3_Missense_Mutation_p.E2662K|KIAA1109_ENST00000455637.1_Missense_Mutation_p.E2662K Q2LD37 K1109_HUMAN KIAA1109 2662 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3) 172 AGGAAGATCTGAAAGAAGAAC 0.348000 3 19 0 0 0.115264 0 0 CDHR2 54825 broad.mit.edu 37 5 176019778 176019778 + Missense_Mutation SNP C C G TCGA-55-7573-01A-11D-2036-08 TCGA-55-7573-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36b5181b-9b59-428a-9c0e-45ac9e0d1674 4cc8017b-3238-4cf0-9c04-4a739fe7b511 g.chr5:176019778C>G ENST00000510636.1 + 31 4063 c.3789C>G c.(3787-3789)atC>atG p.I1263M CDHR2_ENST00000261944.5_Missense_Mutation_p.I1263M|CDHR2_ENST00000506348.1_Missense_Mutation_p.I1263M NM_001171976.1 NP_001165447.1 Q9BYE9 CDHR2_HUMAN cadherin-related family member 2 1263 homophilic cell adhesion|negative regulation of cell growth apical plasma membrane|cell junction|integral to membrane calcium ion binding|protein binding breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1) 56 GTCAGGAAATCAAGGCAAGAT 0.552000 23 53 0 0 0.706142 0 0 ELF3 1999 broad.mit.edu 37 1 201983060 201983060 + Frame_Shift_Del DEL C C - TCGA-55-7573-01A-11D-2036-08 TCGA-55-7573-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36b5181b-9b59-428a-9c0e-45ac9e0d1674 4cc8017b-3238-4cf0-9c04-4a739fe7b511 g.chr1:201983060delC ENST00000359651.3 + 7 4101 c.909delC c.(907-909)ttfs p.F303fs ELF3_ENST00000367283.3_Frame_Shift_Del_p.F303fs|ELF3_ENST00000367284.5_Frame_Shift_Del_p.F303fs|RP11-510N19.5_ENST00000504773.1_RNA P78545 ELF3_HUMAN E74-like factor 3 (ets domain transcription factor, epithelial-specific ) 303 epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Golgi apparatus|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 20 AAGGCGTCTTCAAGTTCCTGC 0.582 11 20 --- --- --- --- OBSCN 84033 broad.mit.edu 37 1 228560034 228560034 + Frame_Shift_Del DEL C C - rs36119328 by1000genomes TCGA-55-7573-01A-11D-2036-08 TCGA-55-7573-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36b5181b-9b59-428a-9c0e-45ac9e0d1674 4cc8017b-3238-4cf0-9c04-4a739fe7b511 g.chr1:228560034delC ENST00000570156.2 + 105 24500 c.24426delC c.(24424-24426)tafs p.Y8142fs OBSCN_ENST00000422127.1_Frame_Shift_Del_p.Y7185fs|OBSCN_ENST00000366707.4_Frame_Shift_Del_p.Y4819fs NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 7185 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 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) GCGGGGGCTACGCAGGCGTGG 0.667 5 4 --- --- --- --- TADA2B 93624 broad.mit.edu 37 4 7056195 7056196 + Frame_Shift_Ins INS - - C rs75397160 TCGA-55-7573-01A-11D-2036-08 TCGA-55-7573-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36b5181b-9b59-428a-9c0e-45ac9e0d1674 4cc8017b-3238-4cf0-9c04-4a739fe7b511 g.chr4:7056195_7056196insC ENST00000310074.7 + 2 866_867 c.677_678insC c.(676-678)taafs p.*226fs TADA2B_ENST00000512388.1_Frame_Shift_Ins_p.*151fs|TADA2B_ENST00000515646.1_Frame_Shift_Ins_p.*134fs NM_152293.2 NP_689506.2 Q86TJ2 TAD2B_HUMAN transcriptional adaptor 2B 226 regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|zinc ion binding p.Y226*(1) breast(3)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2) 18 GCCCGTGACTACAATCTGGTGC 0.579 31 105 --- --- --- --- DND1 373863 broad.mit.edu 37 5 140052285 140052285 + Frame_Shift_Del DEL T T - TCGA-55-7573-01A-11D-2036-08 TCGA-55-7573-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36b5181b-9b59-428a-9c0e-45ac9e0d1674 4cc8017b-3238-4cf0-9c04-4a739fe7b511 g.chr5:140052285delT ENST00000542735.1 - 3 392 c.349delA c.(349-351)cgfs p.T117fs NM_194249.2 NP_919225.1 Q8IYX4 DND1_HUMAN DND microRNA-mediated repression inhibitor 1 117 RRM 1. multicellular organismal development|negative regulation of gene silencing by miRNA cytoplasm|nucleus AU-rich element binding|nucleotide binding p.T117fs*24(1) central_nervous_system(1)|prostate(4) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTGTGCAGCGTGGCGATGGCG 0.682 5 4 --- --- --- --- EGFR 1956 broad.mit.edu 37 7 55242466 55242474 + In_Frame_Del DEL GAATTAAGA GAATTAAGA - rs121913438 TCGA-55-7573-01A-11D-2036-08 TCGA-55-7573-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36b5181b-9b59-428a-9c0e-45ac9e0d1674 4cc8017b-3238-4cf0-9c04-4a739fe7b511 g.chr7:55242466_55242474delGAATTAAGA ENST00000275493.2 + 19 2413_2421 c.2236_2244delGAATTAAGA c.(2236-2244)del p.ELR746del EGFR_ENST00000454757.2_In_Frame_Del_p.ELR693del|EGFR_ENST00000455089.1_In_Frame_Del_p.ELR701del|EGFR_ENST00000442591.1_Intron 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) 11 50 --- --- --- --- LGALS9B 284194 broad.mit.edu 37 17 20370782 20370783 + Translation_Start_Site INS - - TC rs147679570 TCGA-55-7573-01A-11D-2036-08 TCGA-55-7573-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36b5181b-9b59-428a-9c0e-45ac9e0d1674 4cc8017b-3238-4cf0-9c04-4a739fe7b511 g.chr17:20370782_20370783insTC ENST00000423676.3 - 0 64_65 LGALS9B_ENST00000324290.5_Start_Codon_Ins Q3B8N2 LEG9B_HUMAN lectin, galactoside-binding, soluble, 9B sugar binding p.M1fs*12(1) central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(2) 10 GCTGAAGGCCATCTCCACCGCC 0.584 3 6 --- --- --- --- DUXA 503835 broad.mit.edu 37 19 57666695 57666695 + Frame_Shift_Del DEL T T - TCGA-55-7573-01A-11D-2036-08 TCGA-55-7573-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36b5181b-9b59-428a-9c0e-45ac9e0d1674 4cc8017b-3238-4cf0-9c04-4a739fe7b511 g.chr19:57666695delT ENST00000554048.2 - 5 483 c.484delA c.(484-486)ggfs p.R162fs NM_001012729.1 NP_001012747.1 A6NLW8 DUXA_HUMAN double homeobox A 162 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1) 17 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0123) ACAGGTTCCCTTTTTCTCTGG 0.408 7 54 --- --- --- ---