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 LRWD1 222229 broad.mit.edu 37 7 102110079 102110079 + Silent SNP C C T rs142392925 byFrequency TCGA-ET-A39M-01A-11D-A19J-08 TCGA-ET-A39M-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39c627f7-225b-4a78-a589-e3228fed1d6e cfdd0348-3531-4c23-bc2f-963173dfd77e g.chr7:102110079C>T uc003uzn.3 + 9 1425 c.1287C>T c.(1285-1287)taC>taT p.Y429Y MIR4467_uc022ajg.1_5'Flank NM_152892 NP_690852 Q9UFC0 LRWD1_HUMAN Homo sapiens leucine-rich repeats and WD repeat domain containing 1 (LRWD1), mRNA. 429 DNA-dependent DNA replication initiation|G1 phase of mitotic cell cycle|chromatin modification|establishment of protein localization to chromatin centromeric heterochromatin|nuclear origin of replication recognition complex|telomeric heterochromatin chromatin binding|methyl-CpG binding|methylated histone residue binding central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|stomach(2) 20 ACCAGGACTACGAATTCCAGG 0.632000 7 144 0 0 1 0 0 KREMEN2 79412 broad.mit.edu 37 16 3016732 3016732 + Silent SNP C C T TCGA-ET-A39M-01A-11D-A19J-08 TCGA-ET-A39M-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39c627f7-225b-4a78-a589-e3228fed1d6e cfdd0348-3531-4c23-bc2f-963173dfd77e g.chr16:3016732C>T uc002csg.3 + 4 881 c.576C>T c.(574-576)gaC>gaT p.D192D KREMEN2_uc010bsw.2_Silent_p.D192D|KREMEN2_uc002csi.3_Silent_p.D192D|KREMEN2_uc010uwl.2_Intron|KREMEN2_uc002csh.3_Silent_p.D192D|KREMEN2_uc010bsx.3_Intron|PAQR4_uc002csj.4_5'Flank|PAQR4_uc002csk.4_5'Flank|PAQR4_uc002csl.4_5'Flank NM_172229 NP_757384 Q8NCW0 KREM2_HUMAN Homo sapiens kringle containing transmembrane protein 2 (KREMEN2), transcript variant 4, mRNA. 192 WSC. Missing (in Ref. 2; BAC11365). Wnt receptor signaling pathway integral to membrane central_nervous_system(2)|endometrium(1)|large_intestine(1) 4 CCGACTGTGACCAGATCTGTT 0.706000 5 60 0 0 1 0 0 PCDHB9 56127 broad.mit.edu 37 5 140568475 140568475 + Missense_Mutation SNP C C G rs17844529 TCGA-ET-A39M-01A-11D-A19J-08 TCGA-ET-A39M-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39c627f7-225b-4a78-a589-e3228fed1d6e cfdd0348-3531-4c23-bc2f-963173dfd77e g.chr5:140568475C>G uc003liw.1 + 1 1581 c.1581C>G c.(1579-1581)gaC>gaG p.D527E NM_019119 NP_061992 Q9Y5E1 PCDB9_HUMAN Homo sapiens protocadherin beta 9 (PCDHB9), mRNA. 528 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AGGCTTTCGACTTCCGCGTGG 0.672000 11 292 0 0 1 0 0 PCK2 5106 broad.mit.edu 37 14 24568395 24568395 + Missense_Mutation SNP A A G rs146890792 byFrequency TCGA-ET-A39M-01A-11D-A19J-08 TCGA-ET-A39M-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39c627f7-225b-4a78-a589-e3228fed1d6e cfdd0348-3531-4c23-bc2f-963173dfd77e g.chr14:24568395A>G uc001wlt.3 + 4 934 c.802A>G c.(802-804)Atc>Gtc p.I268V NRL_uc001wlq.3_Intron|PCK2_uc001wls.3_Missense_Mutation_p.I268V|PCK2_uc010tnw.2_Missense_Mutation_p.I134V|PCK2_uc010ald.2_Missense_Mutation_p.I120V|PCK2_uc010ale.2_Intron|PCK2_uc010tnx.2_Missense_Mutation_p.I134V|PCK2_uc001wlu.4_Missense_Mutation_p.I134V NM_004563 NP_004554 Q16822 PCKGM_HUMAN Homo sapiens phosphoenolpyruvate carboxykinase 2 (mitochondrial) (PCK2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 268 gluconeogenesis mitochondrial matrix GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1) 18 GBM - Glioblastoma multiforme(265;0.0184) TGCCCTACGCATCGCCTCTCG 0.662000 5 91 0 0 1 0 0 TCTE1 202500 broad.mit.edu 37 6 44250215 44250215 + Missense_Mutation SNP C C T rs146833594 byFrequency TCGA-ET-A39M-01A-11D-A19J-08 TCGA-ET-A39M-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39c627f7-225b-4a78-a589-e3228fed1d6e cfdd0348-3531-4c23-bc2f-963173dfd77e g.chr6:44250215C>T uc003oxi.2 - 3 1084 c.928G>A c.(928-930)Gag>Aag p.E310K TMEM151B_uc003oxg.3_Intron|TMEM151B_uc003oxf.2_Intron NM_182539 NP_872345 Q5JU00 TCTE1_HUMAN Homo sapiens t-complex-associated-testis-expressed 1 (TCTE1), mRNA. 310 breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 34 Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) TCCAGCTCCTCGAGGACTGGG 0.572000 7 168 0 0 1 0 0 FGD5 152273 broad.mit.edu 37 3 14861538 14861538 + Silent SNP C C T TCGA-ET-A39M-01A-11D-A19J-08 TCGA-ET-A39M-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39c627f7-225b-4a78-a589-e3228fed1d6e cfdd0348-3531-4c23-bc2f-963173dfd77e g.chr3:14861538C>T uc003bzc.3 + 0 1070 c.960C>T c.(958-960)tcC>tcT p.S320S FGD5_uc011avk.2_Silent_p.S320S NM_152536 NP_689749 Q6ZNL6 FGD5_HUMAN Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA. 320 Glu-rich. actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape Golgi apparatus|cytoskeleton|lamellipodium|ruffle Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding p.S79S(1)|p.S320S(1) NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1) 54 AGGATGAGTCCGCCGAGGAGA 0.552000 15 166 0 0 1 0 0 PNMA5 114824 broad.mit.edu 37 X 152159280 152159280 + Missense_Mutation SNP C C T TCGA-ET-A39M-01A-11D-A19J-08 TCGA-ET-A39M-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39c627f7-225b-4a78-a589-e3228fed1d6e cfdd0348-3531-4c23-bc2f-963173dfd77e g.chrX:152159280C>T uc010ntx.3 - 1 1288 c.863G>A c.(862-864)cGt>cAt p.R288H PNMA5_uc010ntw.3_Missense_Mutation_p.R288H|PNMA5_uc004fgy.4_Missense_Mutation_p.R288H|PNMA5_uc022chm.1_Missense_Mutation_p.R288H|PNMA5_uc022chn.1_Missense_Mutation_p.R288H NM_052926 NP_443158 Q96PV4 PNMA5_HUMAN Homo sapiens paraneoplastic antigen like 5 (PNMA5), transcript variant 3, mRNA. 288 apoptosis breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 Acute lymphoblastic leukemia(192;6.56e-05) ATGTTTCAGACGAATCATGTC 0.562000 44 50 0 0 1 0 0 PDS5A 23244 broad.mit.edu 37 4 39918684 39918684 + Missense_Mutation SNP A A G TCGA-ET-A39M-01A-11D-A19J-08 TCGA-ET-A39M-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39c627f7-225b-4a78-a589-e3228fed1d6e cfdd0348-3531-4c23-bc2f-963173dfd77e g.chr4:39918684A>G uc003guv.4 - 7 1400 c.860T>C c.(859-861)cTt>cCt p.L287P PDS5A_uc003guw.4_Missense_Mutation_p.L287P NM_001100399 NP_001093869 Q29RF7 PDS5A_HUMAN Homo sapiens PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae) (PDS5A), transcript variant 1, mRNA. 287 cell division|mitosis|negative regulation of DNA replication chromatin|nucleus identical protein binding breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1) 39 TTTGAATTCAAGCTGTGGCAT 0.313000 3 24 0 0 1 0 0 MYBPHL 343263 broad.mit.edu 37 1 109839501 109839501 + Missense_Mutation SNP C C T rs140827712 TCGA-ET-A39M-01A-11D-A19J-08 TCGA-ET-A39M-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39c627f7-225b-4a78-a589-e3228fed1d6e cfdd0348-3531-4c23-bc2f-963173dfd77e g.chr1:109839501C>T uc001dxk.1 - 4 684 c.634G>A c.(634-636)Ggc>Agc p.G212S MYBPHL_uc010ovh.1_Missense_Mutation_p.G189S|MYBPHL_uc001dxl.3_Intron NM_001010985 NP_001010985 A2RUH7 MBPHL_HUMAN Homo sapiens myosin binding protein H-like (MYBPHL), mRNA. 212 Fibronectin type-III. central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(2) 14 all_lung(203;0.00519)|all_epithelial(167;0.00575)|Lung NSC(277;0.00822) Colorectal(144;0.0306)|Lung(183;0.0681)|COAD - Colon adenocarcinoma(174;0.117)|Epithelial(280;0.197)|all cancers(265;0.225) TAGGAGTTGCCGATGATGAGG 0.567000 6 134 0 0 1 0 0 MMP11 4320 broad.mit.edu 37 22 24123183 24123183 + Missense_Mutation SNP G G A TCGA-ET-A39M-01A-11D-A19J-08 TCGA-ET-A39M-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39c627f7-225b-4a78-a589-e3228fed1d6e cfdd0348-3531-4c23-bc2f-963173dfd77e g.chr22:24123183G>A uc002zxx.3 + 4 776 c.754G>A c.(754-756)Ggc>Agc p.G252S MMP11_uc002zxy.3_Non-coding_Transcript NM_005940 NP_005931 P24347 MMP11_HUMAN Homo sapiens matrix metallopeptidase 11 (stromelysin 3) (MMP11), mRNA. 252 collagen catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1) 27 Medulloblastoma(6;9.86e-08)|all_neural(6;0.000318) TGACTGCAGGGGCGTTCAACA 0.622000 5 98 0 0 1 0 0 P2RY2 5029 broad.mit.edu 37 11 72945651 72945651 + Silent SNP C C T rs147817701 byFrequency TCGA-ET-A39M-01A-11D-A19J-08 TCGA-ET-A39M-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39c627f7-225b-4a78-a589-e3228fed1d6e cfdd0348-3531-4c23-bc2f-963173dfd77e g.chr11:72945651C>T uc001otk.3 + 2 914 c.447C>T c.(445-447)taC>taT p.Y149Y P2RY2_uc001otj.3_Silent_p.Y149Y|P2RY2_uc001otl.3_Silent_p.Y149Y|P2RY2_uc021qna.1_Silent_p.Y149Y NM_176072 NP_788086 P41231 P2RY2_HUMAN Homo sapiens purinergic receptor P2Y, G-protein coupled, 2 (P2RY2), transcript variant 1, mRNA. 149 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2) 25 Suramin(DB04786) GGGCCCGCTACGCTCGCCGGG 0.697000 9 168 0 0 1 0 0 EVPL 2125 broad.mit.edu 37 17 74005040 74005040 + Missense_Mutation SNP C C T rs140832012 TCGA-ET-A39M-01A-11D-A19J-08 TCGA-ET-A39M-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39c627f7-225b-4a78-a589-e3228fed1d6e cfdd0348-3531-4c23-bc2f-963173dfd77e g.chr17:74005040C>T uc010wss.1 - 21 4540 c.4312G>A c.(4312-4314)Gtg>Atg p.V1438M EVPL_uc002jqi.2_Missense_Mutation_p.V1416M|EVPL_uc010wst.1_Missense_Mutation_p.V886M NM_001988 NP_001979 Q92817 EVPL_HUMAN Homo sapiens envoplakin (EVPL), mRNA. 1416 Central fibrous rod domain. keratinization|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural molecule activity breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 54 TGCTCCTCCACGCCGGCCCGC 0.692000 6 166 0 0 1 0 0 COLEC11 78989 broad.mit.edu 37 2 3691640 3691640 + Missense_Mutation SNP G G A TCGA-ET-A39M-01A-11D-A19J-08 TCGA-ET-A39M-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39c627f7-225b-4a78-a589-e3228fed1d6e cfdd0348-3531-4c23-bc2f-963173dfd77e g.chr2:3691640G>A uc002qya.3 + 6 896 c.748G>A c.(748-750)Ggc>Agc p.G250S COLEC11_uc002qxz.3_Missense_Mutation_p.G247S|COLEC11_uc002qyb.3_Missense_Mutation_p.G226S|COLEC11_uc002qyc.3_Missense_Mutation_p.G226S|COLEC11_uc010ewo.3_Missense_Mutation_p.G202S|COLEC11_uc010ewp.3_Missense_Mutation_p.G224S|COLEC11_uc010ewq.3_Missense_Mutation_p.G200S|COLEC11_uc010ewr.3_Missense_Mutation_p.G200S|COLEC11_uc010ews.3_Missense_Mutation_p.G176S NM_024027 NP_076932 Q9BWP8 COL11_HUMAN Homo sapiens collectin sub-family member 11 (COLEC11), transcript variant 1, mRNA. 250 C-type lectin. collagen mannose binding central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|soft_tissue(1) 22 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093) OV - Ovarian serous cystadenocarcinoma(76;0.127) GGCCTCGGGCGGCTGGAACGA 0.622000 5 111 0 0 1 0 0 IL17RA 23765 broad.mit.edu 37 22 17583105 17583105 + Silent SNP C C T TCGA-ET-A39M-01A-11D-A19J-08 TCGA-ET-A39M-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39c627f7-225b-4a78-a589-e3228fed1d6e cfdd0348-3531-4c23-bc2f-963173dfd77e g.chr22:17583105C>T uc002zly.3 + 6 806 c.675C>T c.(673-675)aaC>aaT p.N225N NM_014339 NP_055154 Q96F46 I17RA_HUMAN Homo sapiens interleukin 17 receptor A (IL17RA), mRNA. 225 fibroblast activation|positive regulation of interleukin-23 production integral to plasma membrane interleukin-17 receptor activity endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1) 30 all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132) Colorectal(9;0.241) CCCTGTGGAACGAATCTACCC 0.572000 7 159 0 0 1 0 0 DAGLA 747 broad.mit.edu 37 11 61511242 61511242 + Missense_Mutation SNP C C T TCGA-ET-A39M-01A-11D-A19J-08 TCGA-ET-A39M-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39c627f7-225b-4a78-a589-e3228fed1d6e cfdd0348-3531-4c23-bc2f-963173dfd77e g.chr11:61511242C>T uc001nsa.3 + 19 2526 c.2410C>T c.(2410-2412)Cgg>Tgg p.R804W NM_006133 NP_006124 Q9Y4D2 DGLA_HUMAN Homo sapiens diacylglycerol lipase, alpha (DAGLA), mRNA. 804 cell death|lipid catabolic process|platelet activation integral to membrane|plasma membrane acylglycerol lipase activity|metal ion binding|triglyceride lipase activity breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4) 43 READ - Rectum adenocarcinoma(4;0.219) CCGCAGCATCCGGGGCTCCCC 0.662000 14 286 0 0 1 0 0 MEGF6 1953 broad.mit.edu 37 1 3427403 3427403 + Missense_Mutation SNP T T C TCGA-ET-A39M-01A-11D-A19J-08 TCGA-ET-A39M-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39c627f7-225b-4a78-a589-e3228fed1d6e cfdd0348-3531-4c23-bc2f-963173dfd77e g.chr1:3427403T>C uc001akl.3 - 9 1405 c.1178A>G c.(1177-1179)tAc>tGc p.Y393C MEGF6_uc001akk.3_Missense_Mutation_p.Y288C NM_001409 NP_001400 O75095 MEGF6_HUMAN Homo sapiens multiple EGF-like-domains 6 (MEGF6), mRNA. 393 EGF-like 7. extracellular region calcium ion binding cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105) all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211) Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213) GCCGCACTCGTACCCGCCAGG 0.687000 4 100 0 0 1 0 0 TMCO4 255104 broad.mit.edu 37 1 20009578 20009578 + Silent SNP G G A TCGA-ET-A39M-01A-11D-A19J-08 TCGA-ET-A39M-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39c627f7-225b-4a78-a589-e3228fed1d6e cfdd0348-3531-4c23-bc2f-963173dfd77e g.chr1:20009578G>A uc001bcn.3 - 15 2102 c.1860C>T c.(1858-1860)ccC>ccT p.P620P TMCO4_uc001bco.1_Intron|TMCO4_uc001bcp.1_Intron NM_181719 NP_859070 Q5TGY1 TMCO4_HUMAN Homo sapiens transmembrane and coiled-coil domains 4 (TMCO4), mRNA. 620 integral to membrane biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1) 19 Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223) AGGCACAATCGGGGCAGCCCA 0.652000 52 167 0 0 1 0 0 C9orf50 375759 broad.mit.edu 37 9 132375757 132375757 + Missense_Mutation SNP C C T TCGA-ET-A39M-01A-11D-A19J-08 TCGA-ET-A39M-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39c627f7-225b-4a78-a589-e3228fed1d6e cfdd0348-3531-4c23-bc2f-963173dfd77e g.chr9:132375757C>T uc004byc.4 - 4 1202 c.1000G>A c.(1000-1002)Gag>Aag p.E334K C9orf50_uc022boo.1_Missense_Mutation_p.E333K NM_199350 NP_955382 Q5SZB4 CI050_HUMAN Homo sapiens chromosome 9 open reading frame 50 (C9orf50), mRNA. 334 central_nervous_system(1)|endometrium(4)|large_intestine(2)|ovary(1)|skin(1)|urinary_tract(1) 10 Ovarian(14;0.00556) AGGGTCTCCTCCTTGGCCCCA 0.662000 8 100 0 0 1 0 0 TRIM56 81844 broad.mit.edu 37 7 100732226 100732226 + Missense_Mutation SNP C C T rs111572673 TCGA-ET-A39M-01A-11D-A19J-08 TCGA-ET-A39M-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39c627f7-225b-4a78-a589-e3228fed1d6e cfdd0348-3531-4c23-bc2f-963173dfd77e g.chr7:100732226C>T uc003uxq.3 + 2 1864 c.1633C>T c.(1633-1635)Ccg>Tcg p.P545S TRIM56_uc003uxr.3_Intron|TRIM56_uc022aiw.1_Missense_Mutation_p.P545S NM_030961 NP_112223 Q9BRZ2 TRI56_HUMAN Homo sapiens tripartite motif containing 56 (TRIM56), mRNA. 545 defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon cytoplasm ubiquitin-protein ligase activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Lung NSC(181;0.136)|all_lung(186;0.182) GGGCACCGTGCCGGTCCCTGA 0.672000 6 174 0 0 1 0 0 EEF1D 1936 broad.mit.edu 37 8 144671277 144671277 + Silent SNP G G A TCGA-ET-A39M-01A-11D-A19J-08 TCGA-ET-A39M-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39c627f7-225b-4a78-a589-e3228fed1d6e cfdd0348-3531-4c23-bc2f-963173dfd77e g.chr8:144671277G>A uc003yyq.2 - 0 1354 c.1125C>T c.(1123-1125)gcC>gcT p.A375A EEF1D_uc003yyp.2_Silent_p.A325A|EEF1D_uc011lki.2_Intron|EEF1D_uc003yyv.3_Intron|EEF1D_uc003yyu.3_Intron|EEF1D_uc011lkk.2_Intron|EEF1D_uc003yyt.3_Silent_p.A325A|EEF1D_uc003yyr.3_Silent_p.A325A|EEF1D_uc003yys.3_Intron|EEF1D_uc011lkl.2_Intron NM_032378 NP_115754 P29692 EF1D_HUMAN Homo sapiens eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein) (EEF1D), transcript variant 1, mRNA. 0 positive regulation of I-kappaB kinase/NF-kappaB cascade cytosol|eukaryotic translation elongation factor 1 complex protein binding|signal transducer activity|translation elongation factor activity breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 14 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239) GGCGGCACTCGGCGCTGTCGT 0.692000 3 28 0 0 1 0 0 BBX 56987 broad.mit.edu 37 3 107492013 107492013 + Missense_Mutation SNP A A G TCGA-ET-A39M-01A-11D-A19J-08 TCGA-ET-A39M-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39c627f7-225b-4a78-a589-e3228fed1d6e cfdd0348-3531-4c23-bc2f-963173dfd77e g.chr3:107492013A>G uc010hpr.3 + 10 1772 c.1445A>G c.(1444-1446)gAc>gGc p.D482G BBX_uc003dwk.4_Missense_Mutation_p.D482G|BBX_uc003dwl.4_Intron|BBX_uc010hps.1_Missense_Mutation_p.D503G|BBX_uc003dwm.4_Missense_Mutation_p.D482G|BBX_uc003dwo.4_5'Flank NM_001142568 NP_001136040 Q8WY36 BBX_HUMAN Homo sapiens bobby sox homolog (Drosophila) (BBX), transcript variant 1, mRNA. 482 Lys-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2) 49 OV - Ovarian serous cystadenocarcinoma(3;0.112) TCGGAATCTGACATTGAGAGC 0.433000 6 234 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228437749 228437749 + Missense_Mutation SNP G G A TCGA-ET-A39M-01A-11D-A19J-08 TCGA-ET-A39M-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39c627f7-225b-4a78-a589-e3228fed1d6e cfdd0348-3531-4c23-bc2f-963173dfd77e g.chr1:228437749G>A uc009xez.1 + 13 4161 c.4117G>A c.(4117-4119)Gag>Aag p.E1373K OBSCN_uc001hsn.3_Missense_Mutation_p.E1373K NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA. 1373 Ig-like 14. 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 M band|Z disc|cytosol ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase 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) GCTGAGCTGCGAGGTGGCCCA 0.637000 6 193 0 0 1 0 0 SOGA3 387104 broad.mit.edu 37 6 127837687 127837687 + Missense_Mutation SNP C C T TCGA-ET-A39M-01A-11D-A19J-08 TCGA-ET-A39M-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39c627f7-225b-4a78-a589-e3228fed1d6e cfdd0348-3531-4c23-bc2f-963173dfd77e g.chr6:127837687C>T uc003qbd.3 - 1 938 c.73G>A c.(73-75)Gct>Act p.A25T NM_001012279 NP_001012279 Q5TF21 CF174_HUMAN Homo sapiens chromosome 6 open reading frame 174 (C6orf174), mRNA. 25 integral to membrane TGCAGACGAGCCTCAGTGGCT 0.647000 4 27 0 0 1 0 0 ZNF212 7988 broad.mit.edu 37 7 148947484 148947484 + Missense_Mutation SNP G G A TCGA-ET-A39M-01A-11D-A19J-08 TCGA-ET-A39M-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39c627f7-225b-4a78-a589-e3228fed1d6e cfdd0348-3531-4c23-bc2f-963173dfd77e g.chr7:148947484G>A uc003wfp.3 + 1 387 c.259G>A c.(259-261)Ggg>Agg p.G87R NM_012256 NP_036388 Q9UDV6 ZN212_HUMAN Homo sapiens zinc finger protein 212 (ZNF212), mRNA. 87 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|identical protein binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1) 9 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00171) CGTGGAGTTCGGGAACCAGCT 0.652000 8 236 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-ET-A39M-01A-11D-A19J-08 TCGA-ET-A39M-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39c627f7-225b-4a78-a589-e3228fed1d6e cfdd0348-3531-4c23-bc2f-963173dfd77e g.chr7:140453136A>T uc003vwc.4 - 14 1860 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA. 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 51 174 0 0 1 0 0 LAMB4 22798 broad.mit.edu 37 7 107752270 107752270 + Nonsense_Mutation SNP C C T TCGA-ET-A39M-01A-11D-A19J-08 TCGA-ET-A39M-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39c627f7-225b-4a78-a589-e3228fed1d6e cfdd0348-3531-4c23-bc2f-963173dfd77e g.chr7:107752270C>T uc010ljo.1 - 3 398 c.314G>A c.(313-315)tGg>tAg p.W105* LAMB4_uc003vey.2_Nonsense_Mutation_p.W105* NM_007356 NP_031382 A4D0S4 LAMB4_HUMAN Homo sapiens laminin, beta 4 (LAMB4), mRNA. 105 Laminin N-terminal. cell adhesion basement membrane NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4) 97 TTCAGATTGCCACCATTTCTT 0.348000 12 219 0 0 1 0 0 PANX2 56666 broad.mit.edu 37 22 50617591 50617591 + Missense_Mutation SNP G G A TCGA-ET-A39M-01A-11D-A19J-08 TCGA-ET-A39M-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39c627f7-225b-4a78-a589-e3228fed1d6e cfdd0348-3531-4c23-bc2f-963173dfd77e g.chr22:50617591G>A uc003bjn.4 + 2 1919 c.1919G>A c.(1918-1920)gGg>gAg p.G640E PANX2_uc003bjp.4_Intron|PANX2_uc003bjo.4_Intron NM_052839 NP_443071 Q96RD6 PANX2_HUMAN Homo sapiens pannexin 2 (PANX2), transcript variant 1, mRNA. 640 protein hexamerization|synaptic transmission gap junction|integral to membrane gap junction hemi-channel activity|ion channel activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1) 7 all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113) LUAD - Lung adenocarcinoma(64;0.105) GAGGAGGACGGGGGCCCCCGC 0.682000 3 35 0 0 1 0 0 MYBBP1A 10514 broad.mit.edu 37 17 4453510 4453510 + Missense_Mutation SNP T T G TCGA-ET-A39M-01A-11D-A19J-08 TCGA-ET-A39M-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39c627f7-225b-4a78-a589-e3228fed1d6e cfdd0348-3531-4c23-bc2f-963173dfd77e g.chr17:4453510T>G uc002fxz.4 - 8 1224 c.1162A>C c.(1162-1164)Acg>Ccg p.T388P MYBBP1A_uc002fyb.4_Missense_Mutation_p.T388P NM_001105538 NP_001099008 Q9BQG0 MBB1A_HUMAN Homo sapiens MYB binding protein (P160) 1a (MYBBP1A), transcript variant 1, mRNA. 388 Interaction with MYB (By similarity). nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent NLS-dependent protein nuclear import complex|cytoplasm|nucleolus DNA binding|DNA-directed DNA polymerase activity|transcription factor binding breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1) 24 AAAGTAGGCGTGACAGGGAGG 0.642000 10 271 0 0 1 0 0