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 PDZRN3 23024 broad.mit.edu 37 3 73432662 73432662 + Missense_Mutation SNP C C T rs146957114 TCGA-RW-A7CZ-01A-11D-A35D-08 TCGA-RW-A7CZ-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48811849-d51d-40bb-b92c-4c8559dd3169 4d8e125a-da32-4482-accf-2dadae1a32f4 g.chr3:73432662C>T ENST00000263666.4 - 10 3169 c.3055G>A c.(3055-3057)Gaa>Aaa p.E1019K PDZRN3_ENST00000462146.2_Missense_Mutation_p.E676K|PDZRN3_ENST00000535920.1_Missense_Mutation_p.E741K|PDZRN3_ENST00000466780.1_Missense_Mutation_p.E676K|PDZRN3_ENST00000479530.1_Missense_Mutation_p.E736K NM_015009.1 NP_055824.1 Q9UPQ7 PZRN3_HUMAN PDZ domain containing ring finger 3 1019 ubiquitin-protein ligase activity|zinc ion binding p.E1019K(1) breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236) BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134) TGGCTCAGTTCGAGAATGTTC 0.498000 5 130 0 0 1 0 0 PPP1R3F 89801 broad.mit.edu 37 X 49143521 49143521 + Missense_Mutation SNP C C T TCGA-RW-A7CZ-01A-11D-A35D-08 TCGA-RW-A7CZ-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48811849-d51d-40bb-b92c-4c8559dd3169 4d8e125a-da32-4482-accf-2dadae1a32f4 g.chrX:49143521C>T ENST00000055335.6 + 4 2385 c.2369C>T c.(2368-2370)gCg>gTg p.A790V PPP1R3F_ENST00000376188.1_Missense_Mutation_p.A444V|PPP1R3F_ENST00000438316.1_Missense_Mutation_p.A461V|PPP1R3F_ENST00000466508.1_Missense_Mutation_p.A444V|PPP1R3F_ENST00000495799.1_Missense_Mutation_p.A444V NM_033215.4 NP_149992.3 Q6ZSY5 PPR3F_HUMAN protein phosphatase 1, regulatory subunit 3F 790 integral to membrane endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4) 27 Ovarian(276;0.236) CTGGTGCTTGCGCTGTGCCTC 0.627000 3 24 0 0 1 0 0 TCERG1 10915 broad.mit.edu 37 5 145843159 145843159 + Missense_Mutation SNP C C T TCGA-RW-A7CZ-01A-11D-A35D-08 TCGA-RW-A7CZ-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48811849-d51d-40bb-b92c-4c8559dd3169 4d8e125a-da32-4482-accf-2dadae1a32f4 g.chr5:145843159C>T ENST00000296702.5 + 5 976 c.938C>T c.(937-939)gCc>gTc p.A313V TCERG1_ENST00000394421.2_Missense_Mutation_p.A313V NM_006706.3 NP_006697.2 O14776 TCRG1_HUMAN transcription elongation regulator 1 313 Thr-rich. regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus protein binding|transcription coactivator activity breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1) 46 Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GTTTCAGTTGCCACGCCTACA 0.458000 4 154 0 0 1 0 0 PCDHB10 56126 broad.mit.edu 37 5 140574405 140574405 + Silent SNP C C T TCGA-RW-A7CZ-01A-11D-A35D-08 TCGA-RW-A7CZ-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48811849-d51d-40bb-b92c-4c8559dd3169 4d8e125a-da32-4482-accf-2dadae1a32f4 g.chr5:140574405C>T ENST00000239446.4 + 1 2464 c.2280C>T c.(2278-2280)ggC>ggT p.G760G NM_018930.3 NP_061753.1 Q9UN67 PCDBA_HUMAN 760 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 76 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TGACGGGAGGCCCCGGGACCA 0.567000 13 81 0 0 1 0 0 SYT9 143425 broad.mit.edu 37 11 7334941 7334941 + Missense_Mutation SNP A A T TCGA-RW-A7CZ-01A-11D-A35D-08 TCGA-RW-A7CZ-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48811849-d51d-40bb-b92c-4c8559dd3169 4d8e125a-da32-4482-accf-2dadae1a32f4 g.chr11:7334941A>T ENST00000318881.6 + 3 1050 c.813A>T c.(811-813)aaA>aaT p.K271N SYT9_ENST00000396716.2_Missense_Mutation_p.K239N NM_175733.3 NP_783860.1 Q86SS6 SYT9_HUMAN synaptotagmin IX 271 C2 1. cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 38 Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949) GGAAAACAAAACACCAGACTA 0.423000 6 122 0 0 1 0 0 BMS1P20 96610 broad.mit.edu 37 22 22664128 22664128 + RNA SNP G G A TCGA-RW-A7CZ-01A-11D-A35D-08 TCGA-RW-A7CZ-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48811849-d51d-40bb-b92c-4c8559dd3169 4d8e125a-da32-4482-accf-2dadae1a32f4 g.chr22:22664128G>A ENST00000426066.1 + 0 651 NR_027293.1 CTTGGAAGTGGCCAAATTTGA 0.433000 3 48 0 0 1 0 0 ABCF2 10061 broad.mit.edu 37 7 150913092 150913092 + Silent SNP G G A TCGA-RW-A7CZ-01A-11D-A35D-08 TCGA-RW-A7CZ-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48811849-d51d-40bb-b92c-4c8559dd3169 4d8e125a-da32-4482-accf-2dadae1a32f4 g.chr7:150913092G>A ENST00000287844.2 - 12 1471 c.1362C>T c.(1360-1362)atC>atT p.I454I ABCF2_ENST00000222388.2_Silent_p.I454I NM_007189.1 NP_009120.1 Q9UG63 ABCF2_HUMAN ATP-binding cassette, sub-family F (GCN20), member 2 454 ABC transporter 2. ATP-binding cassette (ABC) transporter complex|mitochondrial envelope ATP binding|ATPase activity|transporter activity breast(1)|central_nervous_system(1)|large_intestine(4)|lung(15)|ovary(1)|skin(2) 24 OV - Ovarian serous cystadenocarcinoma(82;0.00448) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) AGTGTTTTCGGATCATGCCAT 0.493000 12 96 0 0 1 0 0 CEP152 22995 broad.mit.edu 37 15 49034156 49034156 + Missense_Mutation SNP T T A TCGA-RW-A7CZ-01A-11D-A35D-08 TCGA-RW-A7CZ-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48811849-d51d-40bb-b92c-4c8559dd3169 4d8e125a-da32-4482-accf-2dadae1a32f4 g.chr15:49034156T>A ENST00000380950.2 - 25 4164 c.3977A>T c.(3976-3978)gAt>gTt p.D1326V CEP152_ENST00000399334.3_Missense_Mutation_p.D1270V|CEP152_ENST00000325747.5_Missense_Mutation_p.D1233V NM_001194998.1|NM_014985.3 NP_001181927.1|NP_055800.2 O94986 CE152_HUMAN centrosomal protein 152kDa 1270 centrosome duplication|G2/M transition of mitotic cell cycle centrosome|cytosol protein kinase binding breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2) 63 all_lung(180;0.0428) all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06) TTCTTTTCCATCATCCTGCAA 0.393000 4 133 0 0 1 0 0 MCC 4163 broad.mit.edu 37 5 112824054 112824054 + Missense_Mutation SNP C C T TCGA-RW-A7CZ-01A-11D-A35D-08 TCGA-RW-A7CZ-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48811849-d51d-40bb-b92c-4c8559dd3169 4d8e125a-da32-4482-accf-2dadae1a32f4 g.chr5:112824054C>T ENST00000408903.3 - 1 473 c.58G>A c.(58-60)Ggc>Agc p.G20S NM_001085377.1 NP_001078846.1 P23508 CRCM_HUMAN mutated in colorectal cancers 548 negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway cytoplasm|nucleus|plasma membrane protein binding|receptor activity p.G20S(1) endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198) OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766) ccgctgccgccgccgccgccg 0.756000 3 3 0 0 1 0 0 DVL2 1856 broad.mit.edu 37 17 7132319 7132319 + Missense_Mutation SNP G G A TCGA-RW-A7CZ-01A-11D-A35D-08 TCGA-RW-A7CZ-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48811849-d51d-40bb-b92c-4c8559dd3169 4d8e125a-da32-4482-accf-2dadae1a32f4 g.chr17:7132319G>A ENST00000005340.5 - 9 1285 c.1003C>T c.(1003-1005)Cgg>Tgg p.R335W DVL2_ENST00000575458.1_Missense_Mutation_p.R329W NM_004422.2 NP_004413.1 O14641 DVL2_HUMAN dishevelled segment polarity protein 2 335 PDZ. canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter cytosol|nucleus|plasma membrane frizzled binding|identical protein binding|signal transducer activity breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1) 25 CTCAGCACCCGCACAGCGTCA 0.532000 3 48 0 0 1 0 0 ZNF426 79088 broad.mit.edu 37 19 9645923 9645923 + Missense_Mutation SNP G G A TCGA-RW-A7CZ-01A-11D-A35D-08 TCGA-RW-A7CZ-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48811849-d51d-40bb-b92c-4c8559dd3169 4d8e125a-da32-4482-accf-2dadae1a32f4 g.chr19:9645923G>A ENST00000535489.1 - 2 394 c.58C>T c.(58-60)Cat>Tat p.H20Y ZNF426_ENST00000589289.1_Missense_Mutation_p.H20Y|ZNF426_ENST00000593003.1_Intron|ZNF426_ENST00000253115.2_Missense_Mutation_p.H20Y Q9BUY5 ZN426_HUMAN zinc finger protein 426 20 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 20 TTTTCTTCATGAAGGCAAACT 0.443000 17 199 0 0 1 0 0 PLCH1 23007 broad.mit.edu 37 3 155241774 155241774 + Missense_Mutation SNP T T C TCGA-RW-A7CZ-01A-11D-A35D-08 TCGA-RW-A7CZ-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48811849-d51d-40bb-b92c-4c8559dd3169 4d8e125a-da32-4482-accf-2dadae1a32f4 g.chr3:155241774T>C ENST00000460012.1 - 11 1649 c.1292A>G c.(1291-1293)cAc>cGc p.H431R PLCH1_ENST00000340059.7_Missense_Mutation_p.H449R|PLCH1_ENST00000494598.1_Missense_Mutation_p.H449R|PLCH1_ENST00000447496.2_Missense_Mutation_p.H449R|PLCH1_ENST00000414191.1_Missense_Mutation_p.H431R|PLCH1_ENST00000334686.6_Missense_Mutation_p.H431R Q4KWH8 PLCH1_HUMAN phospholipase C, eta 1 449 PI-PLC X-box. lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 107 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) ATCCCCAAGGTGATAAGGCAA 0.408000 46 75 0 0 1 0 0 FBXO33 254170 broad.mit.edu 37 14 39871700 39871700 + Missense_Mutation SNP A A C TCGA-RW-A7CZ-01A-11D-A35D-08 TCGA-RW-A7CZ-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48811849-d51d-40bb-b92c-4c8559dd3169 4d8e125a-da32-4482-accf-2dadae1a32f4 g.chr14:39871700A>C ENST00000298097.7 - 2 952 c.615T>G c.(613-615)ttT>ttG p.F205L FBXO33_ENST00000554190.1_Intron NM_203301.3 NP_976046.1 Q7Z6M2 FBX33_HUMAN F-box protein 33 205 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1) 9 Hepatocellular(127;0.213) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00121)|Epithelial(34;0.169) GBM - Glioblastoma multiforme(112;0.0425) CAAAAAGACTAAACTTCTGAA 0.299000 9 19 0 0 1 0 0 CAPN9 10753 broad.mit.edu 37 1 230930958 230930958 + Silent SNP G G A TCGA-RW-A7CZ-01A-11D-A35D-08 TCGA-RW-A7CZ-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48811849-d51d-40bb-b92c-4c8559dd3169 4d8e125a-da32-4482-accf-2dadae1a32f4 g.chr1:230930958G>A ENST00000354537.1 + 17 1924 c.1842G>A c.(1840-1842)gcG>gcA p.A614A CAPN9_ENST00000271971.2_Silent_p.A640A|CAPN9_ENST00000366666.2_Silent_p.A577A|CAPN9_ENST00000480004.1_3'UTR|RP11-99J16__A.2_ENST00000412344.1_RNA NM_016452.1 NP_057536.1 O14815 CAN9_HUMAN calpain 9 640 Domain IV.|EF-hand 3. digestion|proteolysis intracellular calcium ion binding|calcium-dependent cysteine-type endopeptidase activity autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 25 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.167) TCAGGTATGCGGATGAGGAGC 0.612000 3 22 0 0 1 0 0 ARMCX3 51566 broad.mit.edu 37 X 100880328 100880328 + Missense_Mutation SNP C C G TCGA-RW-A7CZ-01A-11D-A35D-08 TCGA-RW-A7CZ-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48811849-d51d-40bb-b92c-4c8559dd3169 4d8e125a-da32-4482-accf-2dadae1a32f4 g.chrX:100880328C>G ENST00000341189.4 + 5 1225 c.359C>G c.(358-360)cCt>cGt p.P120R ARMCX3_ENST00000537169.1_Missense_Mutation_p.P120R|ARMCX3_ENST00000471229.2_Missense_Mutation_p.P120R NM_016607.3 NP_057691.1 Q9UH62 ARMX3_HUMAN armadillo repeat containing, X-linked 3 120 integral to membrane binding endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2) 11 GTTTTGTCCCCTCAAGAGCTA 0.512000 14 81 0 0 1 0 0 AWAT1 158833 broad.mit.edu 37 X 69458182 69458182 + Missense_Mutation SNP C C A TCGA-RW-A7CZ-01A-11D-A35D-08 TCGA-RW-A7CZ-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48811849-d51d-40bb-b92c-4c8559dd3169 4d8e125a-da32-4482-accf-2dadae1a32f4 g.chrX:69458182C>A ENST00000374521.3 + 5 622 c.581C>A c.(580-582)aCc>aAc p.T194N NM_001013579.2 NP_001013597.1 Q58HT5 AWAT1_HUMAN acyl-CoA wax alcohol acyltransferase 1 194 lipid biosynthetic process endoplasmic reticulum membrane|integral to membrane long-chain-alcohol O-fatty-acyltransferase activity breast(2)|central_nervous_system(1)|large_intestine(4)|lung(3)|ovary(4)|skin(1) 15 AACACCACCACCCTCATCCTC 0.602000 8 16 0.000157383 0.00016281 1 1 0 AGER 177 broad.mit.edu 37 6 32150435 32150435 + Missense_Mutation SNP T T C TCGA-RW-A7CZ-01A-11D-A35D-08 TCGA-RW-A7CZ-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48811849-d51d-40bb-b92c-4c8559dd3169 4d8e125a-da32-4482-accf-2dadae1a32f4 g.chr6:32150435T>C ENST00000375065.5 - 4 359 c.350A>G c.(349-351)cAg>cGg p.Q117R AGER_ENST00000375067.3_Silent_p.P230P|AGER_ENST00000375076.4_Silent_p.P244P|AGER_ENST00000375069.3_Silent_p.P143P|RNF5_ENST00000427134.2_Intron|AGER_ENST00000375055.2_Silent_p.P244P|AGER_ENST00000375070.3_Silent_p.P275P|AGER_ENST00000438221.2_Silent_p.P260P Q15109 RAGE_HUMAN advanced glycosylation end product-specific receptor 0 cell surface receptor linked signaling pathway|inflammatory response|innate immune response|neuron projection development|positive regulation of NF-kappaB transcription factor activity integral to plasma membrane S100 alpha binding|transmembrane receptor activity breast(1)|endometrium(1)|lung(5)|pancreas(2) 9 CTCCACCTTCTGGCTCCACCA 0.562000 3 46 0 0 1 0 0 JUN 3725 broad.mit.edu 37 1 59248091 59248091 + Nonsense_Mutation SNP G G A TCGA-RW-A7CZ-01A-11D-A35D-08 TCGA-RW-A7CZ-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48811849-d51d-40bb-b92c-4c8559dd3169 4d8e125a-da32-4482-accf-2dadae1a32f4 g.chr1:59248091G>A ENST00000371222.2 - 1 1694 c.652C>T c.(652-654)Cag>Tag p.Q218* NM_002228.3 NP_002219.1 P05412 JUN_HUMAN jun proto-oncogene 218 innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation by host of viral transcription|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|SMAD protein import into nucleus|SMAD protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway R-SMAD binding|Rho GTPase activator activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription coactivator activity|transcription factor binding|transcription regulatory region DNA binding breast(2)|kidney(2)|lung(5)|skin(1) 10 all_cancers(7;8.55e-07) Arsenic trioxide(DB01169)|Irbesartan(DB01029)|Vinblastine(DB00570) CGCGGGTGCTGCACGGGCATC 0.736000 A sarcoma 4 16 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 113237069 113237069 + Silent SNP G G A TCGA-RW-A7CZ-01A-11D-A35D-08 TCGA-RW-A7CZ-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48811849-d51d-40bb-b92c-4c8559dd3169 4d8e125a-da32-4482-accf-2dadae1a32f4 g.chr8:113237069G>A ENST00000297405.5 - 71 11299 c.11055C>T c.(11053-11055)aaC>aaT p.N3685N CSMD3_ENST00000455883.2_Silent_p.N3516N|CSMD3_ENST00000352409.3_Silent_p.N3615N|CSMD3_ENST00000343508.3_Silent_p.N3645N NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 3685 integral to membrane|plasma membrane p.N3685K(1)|p.N3645K(1) breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 CTGACTTTGCGTTGGTGTCAT 0.438000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 50 114 0 0 1 0 0 PHACTR1 221692 broad.mit.edu 37 6 13185173 13185173 + Silent SNP C C A TCGA-RW-A7CZ-01A-11D-A35D-08 TCGA-RW-A7CZ-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48811849-d51d-40bb-b92c-4c8559dd3169 4d8e125a-da32-4482-accf-2dadae1a32f4 g.chr6:13185173C>A ENST00000379345.2 + 5 613 c.372C>A c.(370-372)ccC>ccA p.P124P PHACTR1_ENST00000379350.1_Intron|PHACTR1_ENST00000332995.7_Intron|PHACTR1_ENST00000457702.2_Intron Q9C0D0 PHAR1_HUMAN phosphatase and actin regulator 1 64 cell junction|cytoplasm|synapse actin binding|protein phosphatase inhibitor activity breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 26 Breast(50;0.0427)|Ovarian(93;0.12) all_hematologic(90;0.122)|Lung SC(78;0.195) Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239) AGCAGCTGCCCCTTCTCAAGC 0.582000 13 44 4.7546e-09 5.09422e-09 1 1 0 BRDT 676 broad.mit.edu 37 1 92430246 92430246 + Silent SNP T T C TCGA-RW-A7CZ-01A-11D-A35D-08 TCGA-RW-A7CZ-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48811849-d51d-40bb-b92c-4c8559dd3169 4d8e125a-da32-4482-accf-2dadae1a32f4 g.chr1:92430246T>C ENST00000370389.2 + 3 960 c.36T>C c.(34-36)aaT>aaC p.N12N BRDT_ENST00000399546.2_Silent_p.N85N|BRDT_ENST00000394530.3_Intron|BRDT_ENST00000402388.1_Silent_p.N85N|BRDT_ENST00000362005.3_Silent_p.N85N NM_001242810.1 NP_001229739.1 Q58F21 BRDT_HUMAN bromodomain, testis-specific 85 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein serine/threonine kinase activity|transcription coactivator activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2) 56 all_lung(203;0.00531)|Lung NSC(277;0.0194) all cancers(265;0.0228)|Epithelial(280;0.133) GCTTGGAGAATAAATATTATG 0.274000 3 62 0 0 1 0 0 FAM21B 55747 broad.mit.edu 37 10 47929869 47929869 + Missense_Mutation SNP C C T TCGA-RW-A7CZ-01A-11D-A35D-08 TCGA-RW-A7CZ-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48811849-d51d-40bb-b92c-4c8559dd3169 4d8e125a-da32-4482-accf-2dadae1a32f4 g.chr10:47929869C>T ENST00000358474.5 + 19 1850 c.1850C>T c.(1849-1851)cCt>cTt p.P617L NM_018232.1 NP_060702.1 Q5SNT6 FA21B_HUMAN family with sequence similarity 21, member B 617 retrograde transport, endosome to Golgi early endosome membrane|WASH complex endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 10 TTTGGCTCTCCTCCCACATCT 0.453000 3 69 0 0 1 0 0 CD3E 916 broad.mit.edu 37 11 118175676 118175676 + Silent SNP G G A TCGA-RW-A7CZ-01A-11D-A35D-08 TCGA-RW-A7CZ-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48811849-d51d-40bb-b92c-4c8559dd3169 4d8e125a-da32-4482-accf-2dadae1a32f4 g.chr11:118175676G>A ENST00000361763.4 + 2 300 c.9G>A c.(7-9)tcG>tcA p.S3S CD3E_ENST00000528600.1_Silent_p.S3S NM_000733.3 NP_000724.1 P07766 CD3E_HUMAN CD3e molecule, epsilon (CD3-TCR complex) 3 G-protein coupled receptor protein signaling pathway|signal complex assembly|T cell costimulation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway external side of plasma membrane|integral to plasma membrane protein heterodimerization activity|protein kinase binding|receptor signaling complex scaffold activity|receptor signaling protein activity|SH3 domain binding|T cell receptor binding|transmembrane receptor activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|ovary(2)|stomach(1) 8 all_hematologic(175;0.046) Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.09e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0251) Muromonab(DB00075) AGATGCAGTCGGGCACTCACT 0.488000 4 120 0 0 1 0 0 PDGFRA 5156 broad.mit.edu 37 4 55133522 55133522 + Missense_Mutation SNP A A G TCGA-RW-A7CZ-01A-11D-A35D-08 TCGA-RW-A7CZ-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48811849-d51d-40bb-b92c-4c8559dd3169 4d8e125a-da32-4482-accf-2dadae1a32f4 g.chr4:55133522A>G ENST00000257290.5 + 6 1157 c.826A>G c.(826-828)Acg>Gcg p.T276A FIP1L1_ENST00000507166.1_Intron NM_006206.4 NP_006197.1 P16234 PGFRA_HUMAN platelet-derived growth factor receptor, alpha polypeptide 276 Ig-like C2-type 3. cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1) 967 all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08) GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256) Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268) GTACACTTTGACGGTCCCCGA 0.463000 """Mis, O, T""" FIP1L1 """GIST, idiopathic hypereosinophilic syndrome, paediatric GBM""" Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis TSP Lung(21;0.16) 3 57 0 0 1 0 0 SSH3 54961 broad.mit.edu 37 11 67079325 67079325 + Silent SNP C C T TCGA-RW-A7CZ-01A-11D-A35D-08 TCGA-RW-A7CZ-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48811849-d51d-40bb-b92c-4c8559dd3169 4d8e125a-da32-4482-accf-2dadae1a32f4 g.chr11:67079325C>T ENST00000308127.4 + 14 2125 c.1947C>T c.(1945-1947)agC>agT p.S649S SSH3_ENST00000376757.5_3'UTR|SSH3_ENST00000308298.7_Silent_p.S384S NM_017857.3 NP_060327.3 Q8TE77 SSH3_HUMAN slingshot protein phosphatase 3 649 regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly cytoplasm|cytoskeleton|nucleus actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.S649S(1) NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) GACAGGCCAGCGTGCATGACA 0.642000 12 19 0 0 1 0 0 RP5-884C9.2 0 broad.mit.edu 37 1 38562824 38562825 + RNA DEL AG AG - TCGA-RW-A7CZ-01A-11D-A35D-08 TCGA-RW-A7CZ-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48811849-d51d-40bb-b92c-4c8559dd3169 4d8e125a-da32-4482-accf-2dadae1a32f4 g.chr1:38562824_38562825delAG ENST00000432922.1 + 0 301 ccacagaaacagagagagagag 0.500 2 4 --- --- --- --- RANBP2 5903 broad.mit.edu 37 2 109382805 109382805 + Frame_Shift_Del DEL T T - TCGA-RW-A7CZ-01A-11D-A35D-08 TCGA-RW-A7CZ-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48811849-d51d-40bb-b92c-4c8559dd3169 4d8e125a-da32-4482-accf-2dadae1a32f4 g.chr2:109382805delT ENST00000283195.6 + 20 5936 c.5810delT c.(5809-5811)atfs p.I1937fs NM_006267.4 NP_006258.3 P49792 RBP2_HUMAN RAN binding protein 2 1937 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(34) NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 129 CGTGGTGTGATTTTTGGCCAA 0.413 7 493 --- --- --- --- RP11-252A24.2 0 broad.mit.edu 37 16 74378976 74378976 + RNA DEL T T - rs35591542 TCGA-RW-A7CZ-01A-11D-A35D-08 TCGA-RW-A7CZ-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48811849-d51d-40bb-b92c-4c8559dd3169 4d8e125a-da32-4482-accf-2dadae1a32f4 g.chr16:74378976delT ENST00000429810.2 - 0 1086 ACCTCTTGAAttttttttttt 0.418 2 4 --- --- --- ---