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 ARHGAP17 55114 broad.mit.edu 37 16 24953431 24953431 + Missense_Mutation SNP G G A TCGA-EL-A3H2-01A-11D-A20C-08 TCGA-EL-A3H2-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7c0270b-eab4-4c6b-a07f-fbf49aa8da00 6ca274f1-73d3-49b2-8ee7-ac03ed50ec79 g.chr16:24953431G>A uc002dnb.3 - 15 1460 c.1367C>T c.(1366-1368)cCt>cTt p.P456L ARHGAP17_uc002dmz.3_5'Flank|ARHGAP17_uc002dna.3_Missense_Mutation_p.P183L|ARHGAP17_uc002dnc.3_Missense_Mutation_p.P456L|ARHGAP17_uc010vcf.2_Missense_Mutation_p.P277L NM_001006634 NP_001006635 Q68EM7 RHG17_HUMAN Homo sapiens Rho GTPase activating protein 17 (ARHGAP17), transcript variant 1, mRNA. 456 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|tight junction GTPase activator activity|SH3 domain binding breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2) 30 GBM - Glioblastoma multiforme(48;0.0407) GGTGGTGAGAGGTACAAATGC 0.507000 3 119 0 0 1 0 0 KIAA1683 80726 broad.mit.edu 37 19 18378325 18378325 + Silent SNP G G A TCGA-EL-A3H2-01A-11D-A20C-08 TCGA-EL-A3H2-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7c0270b-eab4-4c6b-a07f-fbf49aa8da00 6ca274f1-73d3-49b2-8ee7-ac03ed50ec79 g.chr19:18378325G>A uc010ebn.2 - 2 241 c.25C>T c.(25-27)Ctg>Ttg p.L9L KIAA1683_uc002nin.2_Silent_p.L9L|KIAA1683_uc010xqe.1_5'UTR NM_001145304 NP_001138776 Q9H0B3 K1683_HUMAN Homo sapiens KIAA1683 (KIAA1683), transcript variant 1, mRNA. 9 mitochondrion breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 TTACCGGACAGGTCAGCTCTG 0.667000 3 101 0 0 1 0 0 ZNF169 169841 broad.mit.edu 37 9 97063337 97063337 + Silent SNP G G T TCGA-EL-A3H2-01A-11D-A20C-08 TCGA-EL-A3H2-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7c0270b-eab4-4c6b-a07f-fbf49aa8da00 6ca274f1-73d3-49b2-8ee7-ac03ed50ec79 g.chr9:97063337G>T uc004aum.1 + 4 1602 c.1497G>T c.(1495-1497)tcG>tcT p.S499S ZNF169_uc022bki.1_Silent_p.S500S NM_194320 NP_919301 Q14929 ZN169_HUMAN Homo sapiens zinc finger protein 169 (ZNF169), mRNA. 499 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.S499L(1) endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 24 Acute lymphoblastic leukemia(62;0.136) GCTTTAAGTCGCTCCTCACCC 0.547000 47 46 0 0 1 0 0 SOWAHB 345079 broad.mit.edu 37 4 77816864 77816864 + Missense_Mutation SNP A A T TCGA-EL-A3H2-01A-11D-A20C-08 TCGA-EL-A3H2-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7c0270b-eab4-4c6b-a07f-fbf49aa8da00 6ca274f1-73d3-49b2-8ee7-ac03ed50ec79 g.chr4:77816864A>T uc003hki.3 - 0 2139 c.2139T>A c.(2137-2139)agT>agA p.S713R NM_001029870 NP_001025041 A6NEL2 ANR56_HUMAN Homo sapiens sosondowah ankyrin repeat domain family member B (SOWAHB), mRNA. 713 CAGAGGTATTACTGGTTAGAT 0.522000 7 506 0 0 1 0 0 FAM129A 116496 broad.mit.edu 37 1 184792832 184792832 + Missense_Mutation SNP C C G TCGA-EL-A3H2-01A-11D-A20C-08 TCGA-EL-A3H2-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7c0270b-eab4-4c6b-a07f-fbf49aa8da00 6ca274f1-73d3-49b2-8ee7-ac03ed50ec79 g.chr1:184792832C>G uc001gra.3 - 6 956 c.762G>C c.(760-762)caG>caC p.Q254H FAM129A_uc001grb.1_Intron|FAM129A_uc009wyh.1_Intron|FAM129A_uc009wyi.1_Missense_Mutation_p.Q52H NM_052966 NP_443198 Q9BZQ8 NIBAN_HUMAN Homo sapiens family with sequence similarity 129, member A (FAM129A), transcript variant 2, mRNA. 254 negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress cytoplasm|nucleus|plasma membrane p.Q254P(1) autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2) 45 GCAGGTCTGTCTGAAGAGTGG 0.512000 3 109 0 0 1 0 0 MYO18B 84700 broad.mit.edu 37 22 26423340 26423340 + Missense_Mutation SNP G G A TCGA-EL-A3H2-01A-11D-A20C-08 TCGA-EL-A3H2-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7c0270b-eab4-4c6b-a07f-fbf49aa8da00 6ca274f1-73d3-49b2-8ee7-ac03ed50ec79 g.chr22:26423340G>A uc003abz.1 + 42 7650 c.7400G>A c.(7399-7401)gGt>gAt p.G2467D MYO18B_uc003aca.1_Missense_Mutation_p.G2348D|MYO18B_uc010guy.1_Missense_Mutation_p.G2349D|MYO18B_uc010guz.1_Missense_Mutation_p.G2347D|MYO18B_uc011aka.1_Missense_Mutation_p.G1621D|MYO18B_uc011akb.1_Missense_Mutation_p.G1980D|MYO18B_uc010gva.1_Missense_Mutation_p.G450D|MYO18B_uc010gvb.1_Non-coding_Transcript NM_032608 NP_115997 Q8IUG5 MY18B_HUMAN Homo sapiens myosin XVIIIB (MYO18B), mRNA. 2467 nucleus|sarcomere|unconventional myosin complex ATP binding|actin binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 GGGCAAGACGGTTCACAGCGT 0.542000 4 94 0 0 1 0 0 EGFLAM 133584 broad.mit.edu 37 5 38448474 38448474 + Silent SNP T T C TCGA-EL-A3H2-01A-11D-A20C-08 TCGA-EL-A3H2-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7c0270b-eab4-4c6b-a07f-fbf49aa8da00 6ca274f1-73d3-49b2-8ee7-ac03ed50ec79 g.chr5:38448474T>C uc003jlc.2 + 18 2906 c.2560T>C c.(2560-2562)Ttg>Ctg p.L854L EGFLAM_uc003jlb.2_Silent_p.L846L|EGFLAM_uc003jle.2_Silent_p.L612L|EGFLAM_uc003jlf.2_Silent_p.L212L|EGFLAM_uc003jlg.2_5'UTR NM_001205301 NP_001192230 Q63HQ2 EGFLA_HUMAN Homo sapiens EGF-like, fibronectin type III and laminin G domains (EGFLAM), transcript variant 5, mRNA. 854 Laminin G-like 3. cell junction|proteinaceous extracellular matrix|synapse NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 85 all_lung(31;0.000385) CCCAGATATCTTGAAGAGGTA 0.438000 4 166 0 0 1 0 0 CRAT 1384 broad.mit.edu 37 9 131866547 131866547 + Silent SNP G G A TCGA-EL-A3H2-01A-11D-A20C-08 TCGA-EL-A3H2-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7c0270b-eab4-4c6b-a07f-fbf49aa8da00 6ca274f1-73d3-49b2-8ee7-ac03ed50ec79 g.chr9:131866547G>A uc004bxh.3 - 2 612 c.330C>T c.(328-330)taC>taT p.Y110Y CRAT_uc004bxk.4_Silent_p.Y89Y NM_000755 NP_000746 P43155 CACP_HUMAN Homo sapiens carnitine O-acetyltransferase (CRAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 110 energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix carnitine O-acetyltransferase activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2) 13 UCEC - Uterine corpus endometrioid carcinoma (4;0.0178) L-Carnitine(DB00583) CAGGCTGGCGGTACTGGAGGT 0.637000 3 35 0 0 1 0 0 SYCP2L 221711 broad.mit.edu 37 6 10894117 10894117 + Silent SNP G G A TCGA-EL-A3H2-01A-11D-A20C-08 TCGA-EL-A3H2-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7c0270b-eab4-4c6b-a07f-fbf49aa8da00 6ca274f1-73d3-49b2-8ee7-ac03ed50ec79 g.chr6:10894117G>A uc003mzo.3 + 2 392 c.96G>A c.(94-96)acG>acA p.T32T SYCP2L_uc011dim.1_Non-coding_Transcript NM_001040274 NP_001035364 Q5T4T6 SYC2L_HUMAN Homo sapiens synaptonemal complex protein 2-like (SYCP2L), mRNA. 32 nucleus breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 36 Breast(50;0.0838)|Ovarian(93;0.107) all_hematologic(90;0.135) Epithelial(50;0.239) CACTTATTACGGATGCATTCC 0.299000 4 53 0 0 1 0 0 COG5 10466 broad.mit.edu 37 7 106851577 106851577 + Silent SNP C C A TCGA-EL-A3H2-01A-11D-A20C-08 TCGA-EL-A3H2-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7c0270b-eab4-4c6b-a07f-fbf49aa8da00 6ca274f1-73d3-49b2-8ee7-ac03ed50ec79 g.chr7:106851577C>A uc003vec.2 - 19 2880 c.2355G>T c.(2353-2355)acG>acT p.T785T COG5_uc003ved.2_Silent_p.T764T|COG5_uc003vee.2_Silent_p.T785T NM_006348 NP_006339 Q9UP83 COG5_HUMAN Homo sapiens component of oligomeric golgi complex 5 (COG5), transcript variant 1, mRNA. 764 intra-Golgi vesicle-mediated transport|protein transport Golgi membrane|Golgi transport complex|cytosol|nucleus protein binding breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1) 40 CGGGTGCTCTCGTGAACAAAA 0.468000 3 109 0 0 1 0 0 MLH3 27030 broad.mit.edu 37 14 75514649 75514649 + Silent SNP T T C TCGA-EL-A3H2-01A-11D-A20C-08 TCGA-EL-A3H2-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7c0270b-eab4-4c6b-a07f-fbf49aa8da00 6ca274f1-73d3-49b2-8ee7-ac03ed50ec79 g.chr14:75514649T>C uc001xrd.1 - 1 1926 c.1710A>G c.(1708-1710)acA>acG p.T570T MLH3_uc001xre.1_Silent_p.T570T|MLH3_uc010tuy.1_Non-coding_Transcript NM_001040108 NP_001035197 Q9UHC1 MLH3_HUMAN Homo sapiens mutL homolog 3 (E. coli) (MLH3), transcript variant 1, mRNA. 570 mismatch repair|reciprocal meiotic recombination MutLbeta complex|chiasma|synaptonemal complex ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 44 BRCA - Breast invasive adenocarcinoma(234;0.00688) CTCCCCATAATGTTGTTGCAA 0.363000 Mismatch excision repair (MMR) 3 96 0 0 1 0 0 TRIB3 57761 broad.mit.edu 37 20 377081 377081 + Missense_Mutation SNP G G A rs140801463 TCGA-EL-A3H2-01A-11D-A20C-08 TCGA-EL-A3H2-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7c0270b-eab4-4c6b-a07f-fbf49aa8da00 6ca274f1-73d3-49b2-8ee7-ac03ed50ec79 g.chr20:377081G>A uc002wdn.3 + 4 1222 c.905G>A c.(904-906)cGc>cAc p.R302H TRIB3_uc002wdm.3_Missense_Mutation_p.R275H NM_021158 NP_066981 Q96RU7 TRIB3_HUMAN Homo sapiens tribbles homolog 3 (Drosophila) (TRIB3), mRNA. 275 Protein kinase. apoptosis|cellular lipid metabolic process|insulin receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fatty acid biosynthetic process|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein binding|positive regulation of ubiquitin-protein ligase activity|regulation of MAP kinase activity|regulation of glucose transport|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent cytosol|nucleus|plasma membrane ATP binding|protein kinase activity|protein kinase binding|protein kinase inhibitor activity|transcription corepressor activity|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|skin(1) 21 all_epithelial(17;0.165)|Lung NSC(37;0.191)|Breast(17;0.231) Colorectal(46;0.101)|COAD - Colon adenocarcinoma(99;0.112) AAGATCCGCCGCGGGGCCTAC 0.692000 5 97 0 0 1 0 0 TMEM67 91147 broad.mit.edu 37 8 94809588 94809588 + Missense_Mutation SNP C C A TCGA-EL-A3H2-01A-11D-A20C-08 TCGA-EL-A3H2-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7c0270b-eab4-4c6b-a07f-fbf49aa8da00 6ca274f1-73d3-49b2-8ee7-ac03ed50ec79 g.chr8:94809588C>A uc011lgk.2 + 19 2061 c.1990C>A c.(1990-1992)Cct>Act p.P664T TMEM67_uc010maw.2_Missense_Mutation_p.P370T|TMEM67_uc003yga.4_Missense_Mutation_p.P583T|TMEM67_uc011lgl.2_Missense_Mutation_p.P63T NM_153704 NP_714915 Q5HYA8 MKS3_HUMAN Homo sapiens transmembrane protein 67 (TMEM67), transcript variant 1, mRNA. 664 ER-associated protein catabolic process|cilium assembly|negative regulation of centrosome duplication centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body unfolded protein binding breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1) 41 Breast(36;4.14e-07) BRCA - Breast invasive adenocarcinoma(8;0.00896) TGCCACTGTTCCTGTAAGCAT 0.373000 46 98 0 0 1 0 0 MYH7 4625 broad.mit.edu 37 14 23885503 23885503 + Missense_Mutation SNP C C T TCGA-EL-A3H2-01A-11D-A20C-08 TCGA-EL-A3H2-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7c0270b-eab4-4c6b-a07f-fbf49aa8da00 6ca274f1-73d3-49b2-8ee7-ac03ed50ec79 g.chr14:23885503C>T uc001wjx.3 - 33 4769 c.4663G>A c.(4663-4665)Gag>Aag p.E1555K NM_000257 NP_000248 P12883 MYH7_HUMAN Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA. 1555 E -> K (in CMH1). adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) ATCTTGCCCTCCTCGTGCTCC 0.627000 8 217 0 0 1 0 0 FKBP7 51661 broad.mit.edu 37 2 179341923 179341923 + Missense_Mutation SNP C C G TCGA-EL-A3H2-01A-11D-A20C-08 TCGA-EL-A3H2-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7c0270b-eab4-4c6b-a07f-fbf49aa8da00 6ca274f1-73d3-49b2-8ee7-ac03ed50ec79 g.chr2:179341923C>G uc002umk.3 - 1 368 c.239G>C c.(238-240)gGc>gCc p.G80A MIR548N_uc021vsx.1_Intron|FKBP7_uc002umm.3_Missense_Mutation_p.G80A|FKBP7_uc002uml.3_Non-coding_Transcript|FKBP7_uc010zff.2_Missense_Mutation_p.G76A NM_181342 NP_851939 Q9Y680 FKBP7_HUMAN Homo sapiens FK506 binding protein 7 (FKBP7), transcript variant 1, mRNA. 80 PPIase FKBP-type. protein folding endoplasmic reticulum lumen|membrane FK506 binding|calcium ion binding|peptidyl-prolyl cis-trans isomerase activity kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1) 8 OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564) TTTGGGGTGGCCTTCATTTTG 0.383000 7 85 0 0 1 0 0 FKBP8 23770 broad.mit.edu 37 19 18650451 18650451 + Silent SNP G G A TCGA-EL-A3H2-01A-11D-A20C-08 TCGA-EL-A3H2-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7c0270b-eab4-4c6b-a07f-fbf49aa8da00 6ca274f1-73d3-49b2-8ee7-ac03ed50ec79 g.chr19:18650451G>A uc010xqi.1 - 2 482 c.459C>T c.(457-459)acC>acT p.T153T FKBP8_uc002njj.1_Silent_p.T124T|FKBP8_uc002njk.1_Silent_p.T124T|FKBP8_uc021uqp.1_Intron NM_012181 NP_036313 Q14318 FKBP8_HUMAN Homo sapiens FK506 binding protein 8, 38kDa (FKBP8), mRNA. 124 PPIase FKBP-type. apoptosis|interspecies interaction between organisms|intracellular signal transduction|protein folding integral to endoplasmic reticulum membrane|mitochondrial membrane FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1) 15 GCAGATGTACGGTGACCACCT 0.652000 4 202 0 0 1 0 0 EFS 10278 broad.mit.edu 37 14 23826572 23826572 + Missense_Mutation SNP C C A TCGA-EL-A3H2-01A-11D-A20C-08 TCGA-EL-A3H2-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7c0270b-eab4-4c6b-a07f-fbf49aa8da00 6ca274f1-73d3-49b2-8ee7-ac03ed50ec79 g.chr14:23826572C>A uc001wjo.3 - 5 2157 c.1549G>T c.(1549-1551)Gcc>Tcc p.A517S EFS_uc001wjp.3_Missense_Mutation_p.A424S|EFS_uc010tnm.2_Missense_Mutation_p.A348S NM_005864 NP_005855 O43281 EFS_HUMAN Homo sapiens embryonal Fyn-associated substrate (EFS), transcript variant 1, mRNA. 517 cell adhesion|intracellular signal transduction cytoplasm SH3 domain binding p.R516Q(1) endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2) 16 all_cancers(95;7.12e-06) GBM - Glioblastoma multiforme(265;0.00649) AGCACAGTGGCCCGCAATGCC 0.647000 11 81 0 0 1 0 0 DSCAM 1826 broad.mit.edu 37 21 41414505 41414505 + Silent SNP G G A TCGA-EL-A3H2-01A-11D-A20C-08 TCGA-EL-A3H2-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7c0270b-eab4-4c6b-a07f-fbf49aa8da00 6ca274f1-73d3-49b2-8ee7-ac03ed50ec79 g.chr21:41414505G>A uc002yyq.1 - 31 5931 c.5479C>T c.(5479-5481)Ctg>Ttg p.L1827L DSCAM_uc002yyr.1_Non-coding_Transcript NM_001389 NP_001380 O60469 DSCAM_HUMAN Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA. 1827 cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) GCGTGCCTCAGTTGCTCTTCC 0.537000 4 136 0 0 1 0 0 DSG4 147409 broad.mit.edu 37 18 28986167 28986167 + Silent SNP T T C TCGA-EL-A3H2-01A-11D-A20C-08 TCGA-EL-A3H2-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7c0270b-eab4-4c6b-a07f-fbf49aa8da00 6ca274f1-73d3-49b2-8ee7-ac03ed50ec79 g.chr18:28986167T>C uc002kwr.2 + 11 1899 c.1764T>C c.(1762-1764)gaT>gaC p.D588D DSG4_uc002kwq.2_Silent_p.D588D NM_001134453 NP_001127925 Q86SJ6 DSG4_HUMAN Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA. 588 homophilic cell adhesion desmosome|integral to membrane calcium ion binding p.C587S(1) NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(10;0.00504) ATGCCTGTGATTGCGATGACA 0.483000 10 99 0 0 1 0 0 ERBB4 2066 broad.mit.edu 37 2 212248348 212248348 + Missense_Mutation SNP C C A TCGA-EL-A3H2-01A-11D-A20C-08 TCGA-EL-A3H2-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7c0270b-eab4-4c6b-a07f-fbf49aa8da00 6ca274f1-73d3-49b2-8ee7-ac03ed50ec79 g.chr2:212248348C>A uc002veg.1 - 27 4017 c.3919G>T c.(3919-3921)Gtg>Ttg p.V1307L ERBB4_uc002veh.1_Missense_Mutation_p.V1291L|ERBB4_uc010zji.1_Missense_Mutation_p.V1297L|ERBB4_uc010zjj.1_Missense_Mutation_p.V1281L NM_005235 NP_005226 Q15303 ERBB4_HUMAN Homo sapiens v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) (ERBB4), transcript variant JM-a/CVT-1, mRNA. 1307 cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 179 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) GCTTACACCACAGTATTCCGG 0.537000 TSP Lung(8;0.080) 3 100 0 0 1 0 0 POTEE 445582 broad.mit.edu 37 2 131976198 131976198 + Missense_Mutation SNP A A G TCGA-EL-A3H2-01A-11D-A20C-08 TCGA-EL-A3H2-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7c0270b-eab4-4c6b-a07f-fbf49aa8da00 6ca274f1-73d3-49b2-8ee7-ac03ed50ec79 g.chr2:131976198A>G uc002tsn.2 + 0 275 c.223A>G c.(223-225)Agt>Ggt p.S75G PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_5'UTR|POTEE_uc002tsl.2_5'UTR NM_001083538 NP_001077007 Q6S8J3 POTEE_HUMAN Homo sapiens POTE ankyrin domain family, member E (POTEE), mRNA. 75 ATP binding CTGCAGGGGGAGTGGCAAGAG 0.587000 3 196 0 0 1 0 0 IFLTD1 160492 broad.mit.edu 37 12 25702464 25702464 + Nonsense_Mutation SNP C C A TCGA-EL-A3H2-01A-11D-A20C-08 TCGA-EL-A3H2-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7c0270b-eab4-4c6b-a07f-fbf49aa8da00 6ca274f1-73d3-49b2-8ee7-ac03ed50ec79 g.chr12:25702464C>A uc010sji.1 - 2 351 c.106G>T c.(106-108)Gga>Tga p.G36* IFLTD1_uc001rgt.1_5'UTR|IFLTD1_uc001rgs.2_Nonsense_Mutation_p.G15*|IFLTD1_uc010sjj.2_Intron|IFLTD1_uc009zjc.2_Nonsense_Mutation_p.G36* NM_001145728 NP_001139200 Q8N9Z9 ILFT1_HUMAN Homo sapiens intermediate filament tail domain containing 1 (IFLTD1), transcript variant 1, mRNA. 15 intermediate filament structural molecule activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 22 all_lung(3;2.75e-22)|Lung NSC(3;1.77e-21)|all_hematologic(7;0.00656)|Colorectal(261;0.0847) GAATATACTCCAAGTTTGTCT 0.323000 4 107 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 3165913 3165913 + Silent SNP G G A TCGA-EL-A3H2-01A-11D-A20C-08 TCGA-EL-A3H2-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7c0270b-eab4-4c6b-a07f-fbf49aa8da00 6ca274f1-73d3-49b2-8ee7-ac03ed50ec79 g.chr8:3165913G>A uc022aqr.1 - 23 4134 c.3744C>T c.(3742-3744)taC>taT p.Y1248Y CSMD1_uc011kwj.2_Silent_p.Y641Y|CSMD1_uc003wqe.3_Silent_p.Y405Y NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA. 1249 Sushi 7. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) CATGCATGGCGTACCCCGGGT 0.517000 3 44 0 0 1 0 0 NFAT5 10725 broad.mit.edu 37 16 69727410 69727410 + Missense_Mutation SNP C C A TCGA-EL-A3H2-01A-11D-A20C-08 TCGA-EL-A3H2-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7c0270b-eab4-4c6b-a07f-fbf49aa8da00 6ca274f1-73d3-49b2-8ee7-ac03ed50ec79 g.chr16:69727410C>A uc002exl.2 + 12 4018 c.3682C>A c.(3682-3684)Cag>Aag p.Q1228K NFAT5_uc002exj.2_Missense_Mutation_p.Q1134K|NFAT5_uc002exk.2_Missense_Mutation_p.Q1134K|NFAT5_uc002exn.2_Missense_Mutation_p.Q1227K|NFAT5_uc002exm.2_Missense_Mutation_p.Q1210K|NFAT5_uc002exo.2_Non-coding_Transcript|NFAT5_uc002exi.3_Missense_Mutation_p.Q1134K NM_138713 NP_775322 O94916 NFAT5_HUMAN Homo sapiens nuclear factor of activated T-cells 5, tonicity-responsive (NFAT5), transcript variant 2, mRNA. 1210 excretion|signal transduction|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 GGGTTTATTTCAGCCTCAGGT 0.512000 4 110 0 0 1 0 0 STAT5B 6777 broad.mit.edu 37 17 40354774 40354774 + Splice_Site SNP C C G TCGA-EL-A3H2-01A-11D-A20C-08 TCGA-EL-A3H2-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7c0270b-eab4-4c6b-a07f-fbf49aa8da00 6ca274f1-73d3-49b2-8ee7-ac03ed50ec79 g.chr17:40354774C>G uc002hzh.3 - 17 2298 c.2129_splice c.e17+1 p.E710_splice NM_012448 NP_036580 P51692 STA5B_HUMAN Homo sapiens signal transducer and activator of transcription 5B (STAT5B), mRNA. 710 2-oxoglutarate metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process cytosol|nucleoplasm calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.135) Dasatinib(DB01254) TGGACACTTACTCAGGGACCA 0.532000 9 232 0 0 1 0 0 CAMK2B 816 broad.mit.edu 37 7 44269096 44269096 + Frame_Shift_Del DEL G G - TCGA-EL-A3H2-01A-11D-A20C-08 TCGA-EL-A3H2-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7c0270b-eab4-4c6b-a07f-fbf49aa8da00 6ca274f1-73d3-49b2-8ee7-ac03ed50ec79 g.chr7:44269096delG uc003tkq.2 - 17 1440 c.1230delC c.(1228-1230)cccfs p.P410fs CAMK2B_uc003tkp.2_Intron|CAMK2B_uc003tkr.2_Intron|CAMK2B_uc003tks.2_Intron|CAMK2B_uc003tku.2_Intron|CAMK2B_uc003tkv.2_Intron|CAMK2B_uc003tkt.2_Intron|CAMK2B_uc003tkw.2_Intron|CAMK2B_uc010kyc.2_Intron|CAMK2B_uc003tkn.2_5'UTR NM_001220 NP_001211 Q13554 KCC2B_HUMAN Homo sapiens calcium/calmodulin-dependent protein kinase II beta (CAMK2B), transcript variant 1, mRNA. 410 interferon-gamma-mediated signaling pathway|synaptic transmission cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1) 18 CGGGGACCCTGGGGGCTGAGG 0.697 2 4 --- --- --- --- C10orf71 118461 broad.mit.edu 37 10 50531657 50531657 + Frame_Shift_Del DEL C C - TCGA-EL-A3H2-01A-11D-A20C-08 TCGA-EL-A3H2-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7c0270b-eab4-4c6b-a07f-fbf49aa8da00 6ca274f1-73d3-49b2-8ee7-ac03ed50ec79 g.chr10:50531657delC uc021pqb.1 + 0 1067 c.1067delC c.(1066-1068)gccfs p.A356fs C10orf71_uc021pqa.1_Frame_Shift_Del_p.A355fs|C10orf71_uc021pqc.1_Frame_Shift_Del_p.A356fs NM_001135196 NP_001128668 Q711Q0 CJ071_HUMAN Homo sapiens chromosome 10 open reading frame 71 (C10orf71), transcript variant 1, mRNA. 356 endometrium(1) 1 GATCCAGGAGCCCAGGTATTT 0.567 43 55 --- --- --- ---