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 ZNF184 7738 broad.mit.edu 37 6 27420303 27420303 + Missense_Mutation SNP C C G TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr6:27420303C>G ENST00000211936.6 - 6 1319 c.1035G>C c.(1033-1035)caG>caC p.Q345H ZNF184_ENST00000377419.1_Missense_Mutation_p.Q345H NM_007149.2 NP_009080.2 Q99676 ZN184_HUMAN zinc finger protein 184 345 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 48 AGTGGCCTCTCTGGCTAAAGG 0.423000 6 30 0 0 0.001168 0 0 C2orf44 80304 broad.mit.edu 37 2 24261267 24261267 + Missense_Mutation SNP G G C TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr2:24261267G>C ENST00000295148.4 - 2 1155 c.1098C>G c.(1096-1098)atC>atG p.I366M C2orf44_ENST00000406895.3_Missense_Mutation_p.I366M NM_025203.2 NP_079479.1 Q9H6R7 CB044_HUMAN chromosome 2 open reading frame 44 366 protein binding C2orf44/ALK(2) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 24 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TGACAGAGTAGATCAAAATTA 0.393000 T ALK NSCLC 20 65 0 0 0.012319 0 0 IVL 3713 broad.mit.edu 37 1 152883939 152883939 + Nonsense_Mutation SNP C C T TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr1:152883939C>T ENST00000368764.3 + 2 1730 c.1666C>T c.(1666-1668)Caa>Taa p.Q556* IVL_ENST00000392667.2_Nonsense_Mutation_p.Q410* P07476 INVO_HUMAN involucrin 556 isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B cornified envelope|cytoplasm protein binding, bridging|structural molecule activity breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 29 Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) CCAAGACATTCAACCAGCCCT 0.592000 19 53 0 0 0.007413 0 0 TAF1L 138474 broad.mit.edu 37 9 32635389 32635389 + Silent SNP C C T rs55895024 byFrequency TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr9:32635389C>T ENST00000242310.4 - 1 278 c.189G>A c.(187-189)aaG>aaA p.K63K RP11-555J4.4_ENST00000430787.1_RNA NM_153809.2 NP_722516.1 Q8IZX4 TAF1L_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like 63 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) CTGCCAAGTGCTTCTTACACT 0.547000 35 134 0 0 0.013726 0 0 MTHFSD 64779 broad.mit.edu 37 16 86580199 86580199 + Silent SNP T T C TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr16:86580199T>C ENST00000322911.6 - 5 455 c.405A>G c.(403-405)ttA>ttG p.L135L MTHFSD_ENST00000360900.6_Silent_p.L136L|MTHFSD_ENST00000546093.1_5'UTR|MTHFSD_ENST00000543303.2_Silent_p.L135L|MTHFSD_ENST00000381214.5_Silent_p.L136L NM_001159377.1|NM_022764.2 NP_001152849.1|NP_073601.2 Q2M296 MTHSD_HUMAN methenyltetrahydrofolate synthetase domain containing 136 folic acid-containing compound biosynthetic process 5-formyltetrahydrofolate cyclo-ligase activity|ATP binding|RNA binding endometrium(1)|large_intestine(3)|lung(6)|skin(1) 11 CCACCACAACTAAATCCACGA 0.537000 3 101 0 0 0.009096 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37508040 37508040 + Missense_Mutation SNP G G A TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr10:37508040G>A ENST00000374660.1 + 40 3688 c.3589G>A c.(3589-3591)Gag>Aag p.E1197K ANKRD30A_ENST00000361713.1_Missense_Mutation_p.E1078K|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.E1078K Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 1166 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 TAAATACTTTGAGGACATTAA 0.338000 48 88 0 0 0.014410 0 0 RXRG 6258 broad.mit.edu 37 1 165378880 165378880 + Missense_Mutation SNP C C T TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr1:165378880C>T ENST00000359842.5 - 7 1263 c.961G>A c.(961-963)Gtg>Atg p.V321M NM_001256570.1|NM_006917.4 NP_001243499.1|NP_008848.1 P48443 RXRG_HUMAN retinoid X receptor, gamma 321 Ligand-binding (By similarity). regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 38 all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155) Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755) CCATCCTGCACGGAAACTGAG 0.532000 8 21 0 0 0.006214 0 0 SRD5A3 79644 broad.mit.edu 37 4 56230347 56230347 + Missense_Mutation SNP G G C TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr4:56230347G>C ENST00000264228.4 + 3 699 c.471G>C c.(469-471)atG>atC p.M157I SRD5A3-AS1_ENST00000433175.2_RNA|SRD5A3_ENST00000514398.1_3'UTR NM_024592.4 NP_078868.1 Q9H8P0 PORED_HUMAN steroid 5 alpha-reductase 3 157 androgen biosynthetic process|dolichol metabolic process|dolichol-linked oligosaccharide biosynthetic process|polyprenol catabolic process endoplasmic reticulum membrane|integral to membrane 3-oxo-5-alpha-steroid 4-dehydrogenase activity|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor cervix(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1) 12 all_cancers(7;0.0308)|all_lung(4;0.00195)|Lung NSC(11;0.00431)|all_epithelial(27;0.0425)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.0179) CCAATGTCATGATTCACGTCG 0.483000 16 72 0 0 0.004007 0 0 USP6 9098 broad.mit.edu 37 17 5048764 5048764 + Missense_Mutation SNP G G A TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr17:5048764G>A ENST00000574788.1 + 27 4287 c.2057G>A c.(2056-2058)aGa>aAa p.R686K USP6_ENST00000304328.5_Missense_Mutation_p.R369K|USP6_ENST00000250066.6_Missense_Mutation_p.R686K|USP6_ENST00000332776.4_Missense_Mutation_p.R686K P35125 UBP6_HUMAN ubiquitin specific peptidase 6 (Tre-2 oncogene) 686 protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process lysosome|plasma membrane|recycling endosome calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 34 GGGCAGCTAAGATCTCAAGTC 0.373000 T """COL1A1, CDH11, ZNF9, OMD""" aneurysmal bone cysts 19 47 0 0 0.007413 0 0 MUC5B 727897 broad.mit.edu 37 11 1271273 1271273 + Missense_Mutation SNP C C T TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr11:1271273C>T ENST00000447027.1 + 31 13230 c.13172C>T c.(13171-13173)aCg>aTg p.T4391M MUC5B_ENST00000529681.1_Missense_Mutation_p.T4388M Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 4388 23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) ACTCCGGGGACGACCTGGATC 0.662000 55 129 0 0 0.014410 0 0 LLGL1 3996 broad.mit.edu 37 17 18144788 18144788 + Silent SNP C C T TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr17:18144788C>T ENST00000316843.4 + 18 2622 c.2526C>T c.(2524-2526)agC>agT p.S842S NM_004140.3 NP_004131.3 Q15334 L2GL1_HUMAN lethal giant larvae homolog 1 (Drosophila) 842 cortical actin cytoskeleton organization|exocytosis|protein complex assembly cortical actin cytoskeleton protein kinase binding|structural molecule activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 21 all_neural(463;0.228) CCAAGGTGAGCGCGAAGACCA 0.632000 11 29 0 0 0.008291 0 0 IPO13 9670 broad.mit.edu 37 1 44415762 44415762 + Missense_Mutation SNP C C T TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr1:44415762C>T ENST00000372343.3 + 2 1420 c.758C>T c.(757-759)tCg>tTg p.S253L NM_014652.3 NP_055467.3 O94829 IPO13_HUMAN importin 13 253 protein import into nucleus cytoplasm|nucleus protein binding|protein transporter activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0821) CTGCAGGACTCGGAGCTCTTC 0.577000 12 27 0 0 0.010729 0 0 AK1 203 broad.mit.edu 37 9 130630646 130630646 + Missense_Mutation SNP G G A TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr9:130630646G>A ENST00000373176.1 - 6 622 c.470C>T c.(469-471)aCa>aTa p.T157I AK1_ENST00000373156.1_Missense_Mutation_p.T157I|RP11-203J24.9_ENST00000476274.2_RNA|AK1_ENST00000223836.10_Missense_Mutation_p.T173I NM_000476.2 NP_000467.1 P00568 KAD1_HUMAN adenylate kinase 1 157 ATP metabolic process|nucleobase, nucleoside and nucleotide interconversion cytosol adenylate kinase activity|ATP binding|protein binding endometrium(1)|prostate(1) 2 GACAGGTTCTGTGGCCTTGTA 0.592000 10 17 0 0 0.008291 0 0 MAN1A1 4121 broad.mit.edu 37 6 119501047 119501047 + Silent SNP G G A TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr6:119501047G>A ENST00000368468.3 - 13 2340 c.1899C>T c.(1897-1899)agC>agT p.S633S NM_005907.3 NP_005898.2 P33908 MA1A1_HUMAN mannosidase, alpha, class 1A, member 1 633 post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|membrane fraction calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3) 24 all_epithelial(87;0.173) OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115) GATGTGCCTCGCTATTGAAGA 0.378000 9 39 0 0 0.013537 0 0 OR4K2 390431 broad.mit.edu 37 14 20345329 20345329 + Silent SNP G G C TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr14:20345329G>C ENST00000298642.2 + 1 939 c.903G>C c.(901-903)ctG>ctC p.L301L NM_001005501.1 NP_001005501.1 Q8NGD2 OR4K2_HUMAN olfactory receptor, family 4, subfamily K, member 2 301 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2) 43 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TGAGGAAACTGAAAAATAGGT 0.348000 20 20 0 0 0.010504 0 0 VCAN 1462 broad.mit.edu 37 5 82808041 82808041 + Missense_Mutation SNP G G A TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr5:82808041G>A ENST00000265077.3 + 6 1433 c.868G>A c.(868-870)Ggc>Agc p.G290S VCAN_ENST00000502527.2_Missense_Mutation_p.G290S|VCAN_ENST00000343200.5_Missense_Mutation_p.G290S|VCAN_ENST00000512590.2_Missense_Mutation_p.G242S|VCAN_ENST00000513984.1_Missense_Mutation_p.G290S|VCAN_ENST00000342785.4_Missense_Mutation_p.G290S NM_004385.4 NP_004376.2 P13611 CSPG2_HUMAN versican 290 Link 2. cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding p.G290S(1) NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) ATGGAGGAACGGCTTTGACCA 0.602000 15 26 0 0 0.004007 0 0 PRRT3 285368 broad.mit.edu 37 3 9989488 9989488 + Missense_Mutation SNP G G A TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr3:9989488G>A ENST00000412055.1 - 4 1498 c.1369C>T c.(1369-1371)Ccg>Tcg p.P457S PRRT3-AS1_ENST00000431558.1_RNA NM_207351.3 NP_997234.3 Q5FWE3 PRRT3_HUMAN proline-rich transmembrane protein 3 457 Pro-rich. integral to membrane NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)|stomach(2) 13 CAGCGTAGCGGGGGTGCAGTG 0.716000 3 5 0 0 0.004672 0 0 TLN1 7094 broad.mit.edu 37 9 35715166 35715166 + Missense_Mutation SNP C C T TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr9:35715166C>T ENST00000314888.9 - 21 2997 c.2644G>A c.(2644-2646)Gac>Aac p.D882N TLN1_ENST00000540444.1_Missense_Mutation_p.D882N NM_006289.3 NP_006280.3 Q9Y490 TLN1_HUMAN talin 1 882 axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6) 85 all_epithelial(49;0.167) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) TCCTCACTGTCAGGGTGGGCA 0.592000 10 93 0 0 0.008291 0 0 C5 727 broad.mit.edu 37 9 123731393 123731393 + Missense_Mutation SNP G G C TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr9:123731393G>C ENST00000223642.1 - 33 4195 c.4166C>G c.(4165-4167)tCc>tGc p.S1389C NM_001735.2 NP_001726.2 P01031 CO5_HUMAN complement component 5 1389 activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production extracellular space|membrane attack complex chemokine activity|endopeptidase inhibitor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242) Eculizumab(DB01257) TCTGTAGTGGGATGCTGGCAC 0.413000 15 106 0 0 0.004007 0 0 ARHGAP32 9743 broad.mit.edu 37 11 128838895 128838895 + Missense_Mutation SNP C C G TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr11:128838895C>G ENST00000310343.9 - 22 6170 c.6171G>C c.(6169-6171)caG>caC p.Q2057H ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.Q1708H|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.Q1708H NM_001142685.1 NP_001136157.1 A7KAX9 RHG32_HUMAN Rho GTPase activating protein 32 2057 Interaction with FYN. cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane GTPase activator activity|phosphatidylinositol binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3) 60 AGGTCCTGCTCTGTGGATGGG 0.587000 7 25 0 0 0.001984 0 0 RNF10 9921 broad.mit.edu 37 12 120972767 120972767 + Missense_Mutation SNP G G C TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr12:120972767G>C ENST00000325954.4 + 1 614 c.153G>C c.(151-153)aaG>aaC p.K51N RNF10_ENST00000413266.2_Missense_Mutation_p.K51N NM_014868.4 NP_055683.3 Q8N5U6 RNF10_HUMAN ring finger protein 10 51 Ser-rich. negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus protein binding|transcription regulatory region DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1) 27 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CTAAACCCAAGAGCGGTAAGG 0.701000 8 26 0 0 0.006214 0 0 SEC24A 10802 broad.mit.edu 37 5 134007526 134007526 + Missense_Mutation SNP C C G TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr5:134007526C>G ENST00000398844.2 + 4 1055 c.767C>G c.(766-768)tCt>tGt p.S256C SEC24A_ENST00000322887.4_Missense_Mutation_p.S256C NM_021982.2 NP_068817.1 O95486 SC24A_HUMAN SEC24 family member A 256 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm zinc ion binding p.S256F(1) NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 36 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) AATAACGGATCTATGGTGGTC 0.308000 12 27 0 0 0.002450 0 0 MYLK4 340156 broad.mit.edu 37 6 2675332 2675332 + Silent SNP G G C TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr6:2675332G>C ENST00000274643.7 - 11 1410 c.1068C>G c.(1066-1068)ctC>ctG p.L356L MYLK4_ENST00000268446.5_Silent_p.L356L NM_001012418.3 NP_001012418.2 Q86YV6 MYLK4_HUMAN myosin light chain kinase family, member 4 356 Protein kinase. ATP binding|protein serine/threonine kinase activity breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1) 23 Ovarian(93;0.0412) all_hematologic(90;0.0897) AGGGGTGCTTGAGAGCTTCGC 0.488000 25 66 0 0 0.007291 0 0 RUVBL2 10856 broad.mit.edu 37 19 49507659 49507659 + Missense_Mutation SNP G G C TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr19:49507659G>C ENST00000413176.2 + 4 1262 c.114G>C c.(112-114)aaG>aaC p.K38N RUVBL2_ENST00000601968.1_Missense_Mutation_p.K38N|RUVBL2_ENST00000595090.1_Missense_Mutation_p.K83N Q9Y230 RUVB2_HUMAN RuvB-like AAA ATPase 2 83 cellular response to UV|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|protein folding|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|Ino80 complex|membrane|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix ATP binding|ATP-dependent DNA helicase activity|damaged DNA binding|identical protein binding|unfolded protein binding large_intestine(1)|upper_aerodigestive_tract(1) 2 all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047) GCACGGGGAAGACGGCCATCG 0.622000 14 60 0 0 0.002450 0 0 MAP10 54627 broad.mit.edu 37 1 232941709 232941709 + Missense_Mutation SNP A A G TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr1:232941709A>G ENST00000418460.1 + 1 1067 c.940A>G c.(940-942)Act>Gct p.T314A NM_019090.2 NP_061963.2 microtubule-associated protein 10 GGGCGAGCGGACTGGGGACAT 0.692000 10 17 0 0 0.010729 0 0 PQLC1 80148 broad.mit.edu 37 18 77710917 77710917 + Missense_Mutation SNP C C G TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr18:77710917C>G ENST00000397778.2 - 2 192 c.10G>C c.(10-12)Gag>Cag p.E4Q PQLC1_ENST00000590381.1_Missense_Mutation_p.E4Q|PQLC1_ENST00000357575.4_Missense_Mutation_p.E4Q NM_025078.4 NP_079354.2 Q8N2U9 PQLC1_HUMAN PQ loop repeat containing 1 4 integral to membrane endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1) 9 Esophageal squamous(42;0.0212)|Melanoma(33;0.2) OV - Ovarian serous cystadenocarcinoma(15;8.2e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0258) TCCAGGCCCTCGGCCTCCATC 0.766000 3 6 0 0 0.004672 0 0 FLG 2312 broad.mit.edu 37 1 152276170 152276170 + Missense_Mutation SNP G G A TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr1:152276170G>A ENST00000368799.1 - 3 11227 c.11192C>T c.(11191-11193)aCt>aTt p.T3731I FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 3731 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TCTTCCTCCAGTACTGGGCCC 0.617000 Ichthyosis 139 307 0 0 0.014410 0 0 MYCBP2 23077 broad.mit.edu 37 13 77715011 77715011 + Silent SNP G G C TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr13:77715011G>C ENST00000407578.2 - 50 7637 c.7371C>G c.(7369-7371)gtC>gtG p.V2457V MYCBP2_ENST00000357337.6_Silent_p.V2419V|MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000544440.2_Silent_p.V2419V NM_015057.4 NP_055872.4 O75592 MYCB2_HUMAN MYC binding protein 2, E3 ubiquitin protein ligase 2419 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) ACTTTGGTTTGACCAACTGAG 0.408000 66 179 0 0 0.014410 0 0 TTLL11 158135 broad.mit.edu 37 9 124751422 124751422 + Missense_Mutation SNP T T A TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr9:124751422T>A ENST00000373776.3 - 4 1778 c.1591A>T c.(1591-1593)Agg>Tgg p.R531W TTLL11_ENST00000474723.1_Intron|TTLL11_ENST00000321582.5_Intron NM_194252.2 NP_919228.2 Q8NHH1 TTL11_HUMAN tubulin tyrosine ligase-like family, member 11 531 TTL. protein modification process cilium|microtubule basal body tubulin-tyrosine ligase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(3)|skin(1) 18 CAGAGAGCCCTCTTGAGGCCG 0.627000 29 113 0 0 0.012213 0 0 SMARCE1 6605 broad.mit.edu 37 17 38785063 38785063 + Missense_Mutation SNP T T C TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr17:38785063T>C ENST00000348513.6 - 11 1990 c.1210A>G c.(1210-1212)Ata>Gta p.I404V SMARCE1_ENST00000580419.1_Missense_Mutation_p.I369V|SMARCE1_ENST00000578044.1_Missense_Mutation_p.I334V|SMARCE1_ENST00000544009.1_Missense_Mutation_p.I334V|KRT222_ENST00000476049.1_3'UTR|SMARCE1_ENST00000400122.3_3'UTR|SMARCE1_ENST00000431889.2_Missense_Mutation_p.I386V|SMARCE1_ENST00000377808.4_3'UTR NM_003079.4 NP_003070.3 Q969G3 SMCE1_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 404 Glu-rich. chromatin modification|negative regulation of transcription, DNA-dependent|nervous system development|nucleosome disassembly|regulation of transcription from RNA polymerase II promoter nBAF complex|npBAF complex|nuclear chromosome|SWI/SNF complex|transcriptional repressor complex chromatin binding|DNA binding|N-acetyltransferase activity|protein binding|protein N-terminus binding|transcription coactivator activity large_intestine(1) 1 Breast(137;0.000812) TCTTCTGGTATGGGATCTGTT 0.418000 64 131 0 0 0.014410 0 0 ALK 238 broad.mit.edu 37 2 29443686 29443686 + Missense_Mutation SNP C C G TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr2:29443686C>G ENST00000389048.3 - 23 4437 c.3531G>C c.(3529-3531)caG>caC p.Q1177H ALK_ENST00000431873.1_Intron NM_004304.4 NP_004295.2 Q9UM73 ALK_HUMAN anaplastic lymphoma receptor tyrosine kinase 1177 Protein kinase. protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9) NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2) 340 Acute lymphoblastic leukemia(172;0.155) Adenosine triphosphate(DB00171) GAACAATGTTCTGGTGGTTGA 0.517000 """T, Mis, A""" """NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22""" """ALCL, NSCLC, Neuroblastoma""" neuroblastoma Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome 13 28 0 0 0.001855 0 0 GPR83 10888 broad.mit.edu 37 11 94134045 94134045 + Silent SNP G G C TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr11:94134045G>C ENST00000243673.2 - 1 540 c.369C>G c.(367-369)ctC>ctG p.L123L GPR83_ENST00000539203.2_Silent_p.L123L NM_016540.3 NP_057624.3 Q9NYM4 GPR83_HUMAN G protein-coupled receptor 83 123 integral to membrane|plasma membrane neuropeptide Y receptor activity p.L123L(1) NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1) 19 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) AGGGGGTGTTGAGCAGCGTGA 0.572000 12 28 0 0 0.010729 0 0 TMEM131 23505 broad.mit.edu 37 2 98408979 98408979 + Silent SNP C C T TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr2:98408979C>T ENST00000186436.5 - 31 4242 c.4014G>A c.(4012-4014)gcG>gcA p.A1338A NM_015348.1 NP_056163.1 Q92545 TM131_HUMAN transmembrane protein 131 1338 integral to membrane NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1) 57 AACTGTGCCTCGCGCTGCTGG 0.622000 5 22 0 0 0.003080 0 0 PRRC2B 84726 broad.mit.edu 37 9 134321939 134321939 + Silent SNP C C T TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr9:134321939C>T ENST00000357304.4 + 6 820 c.765C>T c.(763-765)ctC>ctT p.L255L PRRC2B_ENST00000405995.1_Silent_p.L255L|PRRC2B_ENST00000458550.1_Silent_p.L255L NM_013318.3 NP_037450.2 Q5JSZ5 PRC2B_HUMAN proline-rich coiled-coil 2B 255 protein binding cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2) 44 ACCCCTCTCTCCGCCCGGCTC 0.562000 5 48 0 0 0.000602 0 0 C9orf135 138255 broad.mit.edu 37 9 72471558 72471558 + Missense_Mutation SNP G G A TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr9:72471558G>A ENST00000377197.3 + 3 436 c.349G>A c.(349-351)Gag>Aag p.E117K C9orf135_ENST00000527647.1_Missense_Mutation_p.E117K|C9orf135_ENST00000466872.2_3'UTR NM_001010940.1 NP_001010940.1 Q5VTT2 CI135_HUMAN chromosome 9 open reading frame 135 117 integral to membrane endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1) 7 TTTATTGAATGAGGAAACAGT 0.348000 8 69 0 0 0.004482 0 0 SSX1 6756 broad.mit.edu 37 X 48123288 48123288 + Silent SNP C C T TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chrX:48123288C>T ENST00000376919.3 + 6 538 c.402C>T c.(400-402)aaC>aaT p.N134N NM_001278691.1|NM_005635.2 NP_001265620.1|NP_005626.1 Q16384 SSX1_HUMAN synovial sarcoma, X breakpoint 1 134 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|transcription corepressor activity SS18/SSX1(1169)|SS18L1/SSX1(2) endometrium(2)|lung(4)|skin(2)|upper_aerodigestive_tract(1) 9 GCCCACAAAACGATGGGAAAC 0.423000 T SS18 synovial sarcoma 82 59 0 0 0.014410 0 0 RNF167 26001 broad.mit.edu 37 17 4847869 4847869 + Silent SNP C C T TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr17:4847869C>T ENST00000262482.6 + 9 1343 c.687C>T c.(685-687)gtC>gtT p.V229V RNF167_ENST00000575111.1_Silent_p.V229V|RNF167_ENST00000572430.1_Silent_p.V229V|RNF167_ENST00000570492.1_3'UTR|RNF167_ENST00000576229.1_Silent_p.V194V|RNF167_ENST00000571816.1_Silent_p.V229V NM_015528.1 NP_056343.1 Q9H6Y7 RN167_HUMAN ring finger protein 167 229 negative regulation of cell cycle|protein polyubiquitination cytoplasm|endomembrane system|integral to membrane protein binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(1)|large_intestine(2)|lung(1) 4 AGTATGATGTCTGTGCCATTT 0.517000 20 84 0 0 0.008871 0 0 NCR2 9436 broad.mit.edu 37 6 41318601 41318601 + Silent SNP G G A TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr6:41318601G>A ENST00000373089.5 + 5 918 c.830G>A c.(829-831)tGa>tAa p.*277* NCR2_ENST00000373086.3_3'UTR NM_004828.3 NP_004819.2 O95944 NCTR2_HUMAN natural cytotoxicity triggering receptor 2 0 cellular defense response integral to plasma membrane transmembrane receptor activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1) 14 Ovarian(28;0.0327)|Colorectal(47;0.196) cacactttgtgaataataaaa 0.393000 15 39 0 0 0.002450 0 0 PDE8A 5151 broad.mit.edu 37 15 85669605 85669605 + Splice_Site SNP G G A TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr15:85669605G>A ENST00000310298.4 + 21 2505 c.2253_splice c.e21+1 p.Q751_splice PDE8A_ENST00000557957.1_Splice_Site_p.Q679_splice|PDE8A_ENST00000339708.5_Splice_Site_p.Q705_splice|PDE8A_ENST00000394553.1_Splice_Site_p.Q751_splice O60658 PDE8A_HUMAN phosphodiesterase 8A 751 Catalytic (By similarity). cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 25 Colorectal(223;0.227) BRCA - Breast invasive adenocarcinoma(143;0.0608) ATTTTTCTCAGGTAAGTTGCT 0.418000 18 58 0 0 0.006122 0 0 ZNF438 220929 broad.mit.edu 37 10 31139092 31139092 + Missense_Mutation SNP G G A TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr10:31139092G>A ENST00000538351.1 - 7 849 c.95C>T c.(94-96)gCc>gTc p.A32V ZNF438_ENST00000452305.1_Missense_Mutation_p.A71V|ZNF438_ENST00000413025.1_Missense_Mutation_p.A81V|ZNF438_ENST00000442986.1_Missense_Mutation_p.A81V|ZNF438_ENST00000375311.1_Intron|ZNF438_ENST00000361310.3_Missense_Mutation_p.A81V|ZNF438_ENST00000331737.6_Missense_Mutation_p.A71V|ZNF438_ENST00000444692.2_Missense_Mutation_p.A71V|ZNF438_ENST00000436087.2_Missense_Mutation_p.A81V NM_001143769.1 NP_001137241.1 Q7Z4V0 ZN438_HUMAN zinc finger protein 438 81 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Prostate(175;0.0587) CTGCATCAGGGCATAGTTCTG 0.532000 4 116 0 0 0.009096 0 0 DGKB 1607 broad.mit.edu 37 7 14378224 14378224 + Nonsense_Mutation SNP G G A TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr7:14378224G>A ENST00000403951.2 - 23 2460 c.2041C>T c.(2041-2043)Cga>Tga p.R681* DGKB_ENST00000406247.3_Nonsense_Mutation_p.R681*|DGKB_ENST00000258767.5_Nonsense_Mutation_p.R681*|DGKB_ENST00000402815.1_Nonsense_Mutation_p.R680*|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000399322.3_Nonsense_Mutation_p.R681*|DGKB_ENST00000444700.2_Nonsense_Mutation_p.R662*|DGKB_ENST00000407950.1_Nonsense_Mutation_p.R673* Q9Y6T7 DGKB_HUMAN diacylglycerol kinase, beta 90kDa 681 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding p.R681*(2) NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 Phosphatidylserine(DB00144) CGATGGCTTCGTCTTTTCTTA 0.398000 30 68 0 0 0.009535 0 0 SP140 11262 broad.mit.edu 37 2 231112687 231112687 + Missense_Mutation SNP G G A TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr2:231112687G>A ENST00000392045.3 + 8 913 c.799G>A c.(799-801)Gag>Aag p.E267K SP140_ENST00000417495.3_Intron|SP140_ENST00000350136.5_Intron|SP140_ENST00000343805.6_Missense_Mutation_p.E241K|SP140_ENST00000420434.3_Missense_Mutation_p.E267K|SP140_ENST00000486687.2_Intron NM_007237.4 NP_009168.4 Q13342 LY10_HUMAN SP140 nuclear body protein 267 defense response cytoplasm|nuclear envelope|nucleolus|nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1) 12 Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) AGCACCAGGGGAGAAACAGGG 0.473000 46 38 0 0 0.009718 0 0 TRPV1 7442 broad.mit.edu 37 17 3475479 3475479 + Missense_Mutation SNP G G A TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr17:3475479G>A ENST00000174621.6 - 13 2451 c.2162C>T c.(2161-2163)tCa>tTa p.S721L TRPV1_ENST00000425167.2_Missense_Mutation_p.S734L|TRPV1_ENST00000399756.4_Missense_Mutation_p.S723L|SHPK_ENST00000572705.1_Missense_Mutation_p.S723L|TRPV1_ENST00000310522.5_Missense_Mutation_p.S663L|TRPV1_ENST00000571088.1_Missense_Mutation_p.S723L|TRPV1_ENST00000576351.1_Missense_Mutation_p.S713L|TRPV1_ENST00000399759.3_Missense_Mutation_p.S723L Q8NER1 TRPV1_HUMAN transient receptor potential cation channel, subfamily V, member 1 723 cell surface receptor linked signaling pathway|chemosensory behavior|thermoception cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane ATP binding|calcium channel activity|calmodulin binding central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1) 17 Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131) Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159) CAGCTTGCCTGAGCGGAAGGC 0.592000 7 22 0 0 0.001984 0 0 SHMT1 6470 broad.mit.edu 37 17 18244076 18244076 + Missense_Mutation SNP G G A rs148701087 byFrequency TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr17:18244076G>A ENST00000316694.3 - 6 705 c.571C>T c.(571-573)Cgc>Tgc p.R191C SHMT1_ENST00000539052.1_Missense_Mutation_p.R53C|SHMT1_ENST00000354098.3_Missense_Mutation_p.R191C|SHMT1_ENST00000352886.6_Missense_Mutation_p.R191C NM_004169.3 NP_004160.3 P34896 GLYC_HUMAN serine hydroxymethyltransferase 1 (soluble) 191 carnitine biosynthetic process|folic acid metabolic process|L-serine catabolic process|one-carbon metabolic process|purine base biosynthetic process cytosol|nucleus glycine hydroxymethyltransferase activity|protein homodimerization activity|pyridoxal phosphate binding breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1) 13 Glycine(DB00145)|Mimosine(DB01055)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116) TGGAAGAGGCGTGCGTTCTCC 0.557000 5 12 0 0 0.000602 0 0 MYLK 4638 broad.mit.edu 37 3 123383036 123383036 + Missense_Mutation SNP G G A TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr3:123383036G>A ENST00000360772.3 - 24 4279 c.3901C>T c.(3901-3903)Cgc>Tgc p.R1301C MYLK_ENST00000475616.1_Missense_Mutation_p.R1301C|MYLK_ENST00000359169.1_Missense_Mutation_p.R1301C|MYLK_ENST00000360304.3_Missense_Mutation_p.R1301C|MYLK_ENST00000354792.5_Missense_Mutation_p.R101C|MYLK_ENST00000346322.5_Missense_Mutation_p.R1232C Q15746 MYLK_HUMAN myosin light chain kinase 1301 Actin-binding (calcium/calmodulin- insensitive) (By similarity).|Ig-like C2-type 8. aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) TGCTCCTGGCGCGCGGCCAGG 0.627000 51 171 0 0 0.014410 0 0 CYP2C8 1558 broad.mit.edu 37 10 96818118 96818118 + Missense_Mutation SNP C C G TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr10:96818118C>G ENST00000371270.3 - 5 887 c.793G>C c.(793-795)Gat>Cat p.D265H CYP2C8_ENST00000535898.1_Missense_Mutation_p.D163H|CYP2C8_ENST00000539050.1_Missense_Mutation_p.D179H NM_000770.3|NM_001198853.1|NM_001198855.1 NP_000761.3|NP_001185782.1|NP_001185784.1 P10632 CP2C8_HUMAN cytochrome P450, family 2, subfamily C, polypeptide 8 265 exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding p.D265N(1) breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3) 21 Colorectal(252;0.0397) all cancers(201;6.21e-05) Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198) AGGAAGCAATCGATAAAGTCC 0.358000 4 58 0 0 0.009096 0 0 ZNF621 285268 broad.mit.edu 37 3 40570902 40570902 + Silent SNP G G A TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr3:40570902G>A ENST00000339296.5 + 3 569 c.117G>A c.(115-117)gtG>gtA p.V39V ZNF621_ENST00000490457.1_3'UTR|ZNF621_ENST00000403205.2_Silent_p.V39V|ZNF621_ENST00000310898.1_Silent_p.V39V|ZNF621_ENST00000431278.1_Intron NM_198484.3 NP_940886.1 Q6ZSS3 ZN621_HUMAN zinc finger protein 621 39 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 21 KIRC - Kidney renal clear cell carcinoma(284;0.0515)|Kidney(284;0.0648) ACGGGGAGGTGATGCTGGAGA 0.517000 57 85 0 0 0.014410 0 0 LYZL2 119180 broad.mit.edu 37 10 30900884 30900884 + Nonstop_Mutation SNP T T A TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr10:30900884T>A ENST00000375318.2 - 5 641 c.585A>T c.(583-585)taA>taT p.*195Y NM_183058.2 NP_898881.2 Q7Z4W2 LYZL2_HUMAN lysozyme-like 2 0 cell wall macromolecule catabolic process extracellular region lysozyme activity NS(2)|central_nervous_system(1)|large_intestine(1)|lung(14)|prostate(1) 19 Prostate(175;0.151) CAGTTCCAGTTTAGGAAACCT 0.517000 81 156 0 0 0.014410 0 0 MAP1B 4131 broad.mit.edu 37 5 71491499 71491499 + Missense_Mutation SNP G G A TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr5:71491499G>A ENST00000296755.7 + 5 2615 c.2317G>A c.(2317-2319)Gcc>Acc p.A773T NM_005909.3 NP_005900.2 P46821 MAP1B_HUMAN microtubule-associated protein 1B 773 Lys-rich (highly basic, contains many KKEE and KKEI/V repeats). microtubule|microtubule associated complex structural molecule activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 104 Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;7.99e-54) TTCTGTTGCTGCCGGAAAGCC 0.473000 37 124 0 0 0.004878 0 0 LRSAM1 90678 broad.mit.edu 37 9 130257620 130257620 + Missense_Mutation SNP G G A TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr9:130257620G>A ENST00000323301.4 + 21 2225 c.1621G>A c.(1621-1623)Gaa>Aaa p.E541K LRSAM1_ENST00000300417.6_Missense_Mutation_p.E541K|LRSAM1_ENST00000373322.1_Missense_Mutation_p.E541K|LRSAM1_ENST00000373324.4_Missense_Mutation_p.E514K|LRSAM1_ENST00000483302.1_3'UTR NM_138361.5 NP_612370.3 Q6UWE0 LRSM1_HUMAN leucine rich repeat and sterile alpha motif containing 1 541 negative regulation of endocytosis|non-lytic virus budding|protein autoubiquitination|protein catabolic process|protein polyubiquitination|protein transport|ubiquitin-dependent endocytosis cytoplasm|extracellular region|membrane part hormone activity|ubiquitin-protein ligase activity|zinc ion binding central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2) 16 AGCCAAAAGTGAAACCAGGCA 0.468000 8 46 0 0 0.004482 0 0 LZTR1 8216 broad.mit.edu 37 22 21348988 21348988 + Missense_Mutation SNP C C T TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr22:21348988C>T ENST00000215739.8 + 15 2116 c.1757C>T c.(1756-1758)gCc>gTc p.A586V LZTR1_ENST00000479606.1_3'UTR|LZTR1_ENST00000389355.3_Missense_Mutation_p.A567V NM_006767.3 NP_006758.2 Q8N653 LZTR1_HUMAN leucine-zipper-like transcription regulator 1 586 anatomical structure morphogenesis sequence-specific DNA binding transcription factor activity breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3) 42 all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195) TGCGAGAGTGCCGCCCGGCTG 0.657000 3 31 0 0 0.004672 0 0 FAM53B 9679 broad.mit.edu 37 10 126311927 126311927 + Missense_Mutation SNP C C T rs140442850 byFrequency TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr10:126311927C>T ENST00000337318.3 - 5 1364 c.1153G>A c.(1153-1155)Gag>Aag p.E385K FAM53B_ENST00000392754.3_Missense_Mutation_p.E385K|RP11-12J10.3_ENST00000494792.1_Intron NM_014661.3 NP_055476.3 Q14153 FA53B_HUMAN family with sequence similarity 53, member B 385 cervix(1)|lung(5)|ovary(2)|pancreas(1) 9 all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117) COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15) CCACAATCCTCGTCCAGGGCG 0.682000 7 25 0 0 0.004482 0 0 DGKE 8526 broad.mit.edu 37 17 54940147 54940147 + Nonsense_Mutation SNP G G T TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr17:54940147G>T ENST00000284061.3 + 12 1879 c.1699G>T c.(1699-1701)Gaa>Taa p.E567* NM_003647.2 NP_003638.1 P52429 DGKE_HUMAN diacylglycerol kinase, epsilon 64kDa 567 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation integral to membrane|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 25 Breast(9;3.59e-07) AAAGGCGACTGAATAGATGGA 0.358000 10 17 2.17888e-05 3.59801e-05 0.006214 1 0 SMEK2 57223 broad.mit.edu 37 2 55812192 55812192 + Missense_Mutation SNP C C T TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr2:55812192C>T ENST00000272313.5 - 7 1555 c.1228G>A c.(1228-1230)Gat>Aat p.D410N SMEK2_ENST00000407823.3_Missense_Mutation_p.D410N|SMEK2_ENST00000345102.5_Missense_Mutation_p.D410N NM_020463.2 NP_065196.1 Q5MIZ7 P4R3B_HUMAN SMEK homolog 2, suppressor of mek1 (Dictyostelium) 410 microtubule organizing center|nucleus protein binding p.D410N(1) kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1) 16 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) CTTACGTCATCACTCTGCTGA 0.348000 15 48 0 0 0.004007 0 0 NCOA7 135112 broad.mit.edu 37 6 126210917 126210917 + Missense_Mutation SNP G G A TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr6:126210917G>A ENST00000368357.3 + 10 2069 c.1717G>A c.(1717-1719)Gag>Aag p.E573K NCOA7_ENST00000392477.2_Missense_Mutation_p.E573K|NCOA7_ENST00000229634.9_Missense_Mutation_p.E458K NM_001199619.1|NM_001199620.1 NP_001186548.1|NP_001186549.1 Q8NI08 NCOA7_HUMAN nuclear receptor coactivator 7 573 cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2) 39 UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237) TCCCATAACTGAGGGCAATAA 0.438000 13 43 0 0 0.001855 0 0 SIRT3 23410 broad.mit.edu 37 11 233115 233115 + Missense_Mutation SNP A A G TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr11:233115A>G ENST00000382743.4 - 3 676 c.574T>C c.(574-576)Ttt>Ctt p.F192L SIRT3_ENST00000524564.1_Missense_Mutation_p.F128L|SIRT3_ENST00000529382.1_Missense_Mutation_p.F50L|SIRT3_ENST00000525319.1_Missense_Mutation_p.F111L|SIRT3_ENST00000532956.1_Missense_Mutation_p.F192L|SIRT3_ENST00000528702.1_5'UTR NM_001017524.2|NM_012239.5 NP_001017524.1|NP_036371.1 Q9NTG7 SIRT3_HUMAN sirtuin 3 192 Deacetylase sirtuin-type. chromatin silencing|protein ADP-ribosylation|protein deacetylation mitochondrial matrix hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|protein binding|zinc ion binding endometrium(1)|lung(5)|urinary_tract(1) 7 all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;3.66e-27)|Epithelial(43;2.02e-26)|OV - Ovarian serous cystadenocarcinoma(40;2.9e-21)|BRCA - Breast invasive adenocarcinoma(625;3.88e-05)|Lung(200;0.111)|LUSC - Lung squamous cell carcinoma(625;0.129) AAAGTGAAAAAGGGCTTGGGG 0.547000 3 61 0 0 0.004672 0 0 ZC3H3 23144 broad.mit.edu 37 8 144557590 144557590 + Silent SNP G G T TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr8:144557590G>T ENST00000262577.5 - 5 1912 c.1881C>A c.(1879-1881)ggC>ggA p.G627G NM_015117.2 NP_055932.2 Q8IXZ2 ZC3H3_HUMAN zinc finger CCCH-type containing 3 627 mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus nucleus nucleic acid binding|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 23 all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107) GGGGCCTGCTGCCCGCATCAC 0.657000 13 37 4.36969e-10 7.46117e-10 0.001855 1 0 LOC101926911 101926911 broad.mit.edu 37 15 91573318 91573318 + RNA SNP A A G TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr15:91573318A>G ENST00000557804.1 + 0 243 AC068831.10_ENST00000556904.1_RNA|AC068831.10_ENST00000501381.3_RNA AACGATGGGGACTTTGAGAGA 0.368000 7 7 0 0 0.001984 0 0 PCDHA5 56143 broad.mit.edu 37 5 140203521 140203521 + Missense_Mutation SNP C C T TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr5:140203521C>T ENST00000529859.1 + 1 2161 c.2161C>T c.(2161-2163)Cgg>Tgg p.R721W PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.R721W|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.R721W|PCDHA1_ENST00000394633.3_Intron NM_018908.2 NP_061731.1 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CACCGCGCTGCGGTGCTCGGC 0.667000 33 69 0 0 0.012213 0 0 TRPC1 7220 broad.mit.edu 37 3 142523281 142523281 + Missense_Mutation SNP C C T TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr3:142523281C>T ENST00000273482.6 + 11 2252 c.1861C>T c.(1861-1863)Cat>Tat p.H621Y TRPC1_ENST00000476941.1_Missense_Mutation_p.H655Y NM_003304.4 NP_003295.1 P48995 TRPC1_HUMAN transient receptor potential cation channel, subfamily C, member 1 655 axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion cytosol|integral to plasma membrane protein binding|store-operated calcium channel activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1) 37 TATATAGAATCATGAAGACAA 0.348000 14 22 0 0 0.002450 0 0 IARS 3376 broad.mit.edu 37 9 95043130 95043130 + Missense_Mutation SNP C C G TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr9:95043130C>G ENST00000375643.3 - 7 909 c.643G>C c.(643-645)Gat>Cat p.D215H IARS_ENST00000375629.3_5'UTR|IARS_ENST00000447699.2_Missense_Mutation_p.D105H|IARS_ENST00000443024.2_Missense_Mutation_p.D215H NM_013417.2 NP_038203.2 P41252 SYIC_HUMAN isoleucyl-tRNA synthetase 215 isoleucyl-tRNA aminoacylation cytosol|nucleus|soluble fraction ATP binding|isoleucine-tRNA ligase activity|protein binding breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 35 L-Isoleucine(DB00167) ACAGTTTCATCTTCTTCCAAA 0.353000 4 52 0 0 0.009096 0 0 OR10J5 127385 broad.mit.edu 37 1 159505792 159505792 + Missense_Mutation SNP C C G TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr1:159505792C>G ENST00000334857.2 - 1 50 c.6G>C c.(4-6)aaG>aaC p.K2N NM_001004469.1 NP_001004469.1 Q8NHC4 O10J5_HUMAN olfactory receptor, family 10, subfamily J, member 5 2 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 22 all_hematologic(112;0.0429) AGTTCTTTCTCTTCATTCTGC 0.348000 14 32 0 0 0.002450 0 0 ANAPC15 25906 broad.mit.edu 37 11 71822259 71822259 + Silent SNP G G T TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr11:71822259G>T ENST00000227618.4 - 3 289 c.64C>A c.(64-66)Cga>Aga p.R22R ANAPC15_ENST00000535503.1_Silent_p.R22R|ANAPC15_ENST00000543587.1_Silent_p.R22R|ANAPC15_ENST00000542531.1_Silent_p.R22R|ANAPC15_ENST00000543050.1_Silent_p.R22R|ANAPC15_ENST00000535234.1_Silent_p.R22R|ANAPC15_ENST00000502597.2_Intron|ANAPC15_ENST00000545944.1_Silent_p.R22R|ANAPC15_ENST00000538919.1_Silent_p.R22R|ANAPC15_ENST00000538393.1_Silent_p.R22R|ANAPC15_ENST00000545680.1_Silent_p.R22R NM_001278487.1|NM_001278491.1|NM_014042.2 NP_001265416.1|NP_001265420.1|NP_054761.1 anaphase promoting complex subunit 15 ACACAGGGTCGATCCAGATTA 0.542000 37 67 2.42023e-17 4.1895e-17 0.003271 1 0 TAF2 6873 broad.mit.edu 37 8 120818639 120818639 + Missense_Mutation SNP C C T TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr8:120818639C>T ENST00000378164.2 - 4 600 c.302G>A c.(301-303)aGa>aAa p.R101K NM_003184.3 NP_003175.1 Q6P1X5 TAF2_HUMAN TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa 101 G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter transcription factor TFIID complex|transcription factor TFTC complex metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 49 Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) ATTGAGGTTTCTCCTGGGGAA 0.348000 18 64 0 0 0.004990 0 0 ATP1A2 477 broad.mit.edu 37 1 160109482 160109482 + Missense_Mutation SNP C C A TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr1:160109482C>A ENST00000361216.3 + 21 2982 c.2893C>A c.(2893-2895)Ctc>Atc p.L965I ATP1A2_ENST00000392233.3_Missense_Mutation_p.L965I NM_000702.3 NP_000693.1 P50993 AT1A2_HUMAN ATPase, Na+/K+ transporting, alpha 2 polypeptide 965 ATP biosynthetic process ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 69 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) GGCTGCCTTTCTCTCTTACTG 0.582000 18 51 6.49762e-13 1.11706e-12 0.006122 1 0 LRFN2 57497 broad.mit.edu 37 6 40359913 40359913 + Silent SNP C C T TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr6:40359913C>T ENST00000338305.6 - 3 2681 c.2139G>A c.(2137-2139)ccG>ccA p.P713P NM_020737.1 NP_065788.1 Q9ULH4 LRFN2_HUMAN leucine rich repeat and fibronectin type III domain containing 2 713 cell junction|integral to membrane|postsynaptic membrane p.P713P(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Ovarian(28;0.0418)|Colorectal(47;0.196) TGCCCTCCAACGGCAAGGGGA 0.736000 5 14 0 0 0.000602 0 0 ARID3C 138715 broad.mit.edu 37 9 34623560 34623560 + Missense_Mutation SNP G G A TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr9:34623560G>A ENST00000378909.2 - 4 819 c.727C>T c.(727-729)Cgg>Tgg p.R243W NM_001017363.1 NP_001017363.1 A6NKF2 ARI3C_HUMAN AT rich interactive domain 3C (BRIGHT-like) 243 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1) 14 all_epithelial(49;0.102) STAD - Stomach adenocarcinoma(86;0.178) GBM - Glioblastoma multiforme(74;0.175) TGAGCGCCCCGAGGGGGCGGC 0.746000 7 42 0 0 0.003080 0 0 ZNF668 79759 broad.mit.edu 37 16 31073297 31073297 + Missense_Mutation SNP G G A TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr16:31073297G>A ENST00000538906.1 - 3 1736 c.952C>T c.(952-954)Cgg>Tgg p.R318W ZNF668_ENST00000417110.2_Missense_Mutation_p.R162Q|ZNF668_ENST00000535577.1_Missense_Mutation_p.R318W|ZNF668_ENST00000394983.2_Missense_Mutation_p.R318W|ZNF668_ENST00000300849.4_Missense_Mutation_p.R318W|ZNF668_ENST00000426488.2_Missense_Mutation_p.R341W|ZNF668_ENST00000539836.3_Missense_Mutation_p.R341W NM_001172668.1 NP_001166139.1 Q96K58 ZN668_HUMAN zinc finger protein 668 318 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 27 GCCGGCTGCCGGAAGTCCTTG 0.662000 10 34 0 0 0.006214 0 0 SMARCA4 6597 broad.mit.edu 37 19 11132522 11132522 + Missense_Mutation SNP C C T TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr19:11132522C>T ENST00000358026.2 + 19 3022 c.2738C>T c.(2737-2739)cCg>cTg p.P913L SMARCA4_ENST00000344626.4_Missense_Mutation_p.P913L|SMARCA4_ENST00000444061.3_Missense_Mutation_p.P913L|SMARCA4_ENST00000450717.3_Missense_Mutation_p.P913L|SMARCA4_ENST00000413806.3_Missense_Mutation_p.P913L|SMARCA4_ENST00000590574.1_Missense_Mutation_p.P913L|SMARCA4_ENST00000589677.1_Missense_Mutation_p.P913L|SMARCA4_ENST00000541122.2_Missense_Mutation_p.P913L|SMARCA4_ENST00000429416.3_Missense_Mutation_p.P913L NM_001128849.1 NP_001122321.1 P51532 SMCA4_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 913 Helicase ATP-binding. chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity p.P913Q(2)|p.?(1) adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 163 all_lung(6;0.0512)|Lung NSC(9;0.0568) ACGGGCACACCGCTGCAGAAC 0.612000 """F, N, Mis""" NSCLC 12 44 0 0 0.010729 0 0 PCDHGA4 56111 broad.mit.edu 37 5 140735144 140735144 + Missense_Mutation SNP T T C TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr5:140735144T>C ENST00000571252.1 + 1 377 c.377T>C c.(376-378)gTt>gCt p.V126A PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron NM_018917.2 NP_061740.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATAATCGATGTTAATGATAAC 0.423000 19 36 0 0 0.012319 0 0 ITGB4 3691 broad.mit.edu 37 17 73751885 73751885 + Silent SNP G G A TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr17:73751885G>A ENST00000200181.3 + 35 4849 c.4662G>A c.(4660-4662)gaG>gaA p.E1554E GALK1_ENST00000225614.2_Intron|ITGB4_ENST00000449880.2_Silent_p.E1537E|ITGB4_ENST00000339591.3_Silent_p.E1537E|ITGB4_ENST00000579662.1_Silent_p.E1484E|ITGB4_ENST00000450894.3_Silent_p.E1484E NM_000213.3 NP_000204.3 P16144 ITB4_HUMAN integrin, beta 4 1554 Fibronectin type-III 3. cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding cell leading edge|cell surface|hemidesmosome|integrin complex protein binding|receptor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1) 43 all_cancers(13;1.5e-07) all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) CGCGGTGCGAGCGGCCGCTGC 0.701000 11 25 0 0 0.008291 0 0 TJP1 7082 broad.mit.edu 37 15 30011032 30011032 + Missense_Mutation SNP G G C TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr15:30011032G>C ENST00000346128.6 - 21 3788 c.3314C>G c.(3313-3315)cCt>cGt p.P1105R TJP1_ENST00000400011.2_Missense_Mutation_p.P1029R|TJP1_ENST00000356107.6_Missense_Mutation_p.P1105R|TJP1_ENST00000545208.2_Missense_Mutation_p.P1025R NM_003257.3|NM_175610.2 NP_003248.3|NP_783297.2 Q07157 ZO1_HUMAN tight junction protein 1 1105 cell-cell junction assembly|cellular component disassembly involved in apoptosis basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1) 68 all_lung(180;7.48e-11)|Breast(32;0.000153) all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186) ATTATCAAAAGGTGGCCGAGA 0.493000 4 162 0 0 0.009096 0 0 OR52H1 390067 broad.mit.edu 37 11 5566547 5566547 + Missense_Mutation SNP G G C TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr11:5566547G>C ENST00000322653.4 - 1 232 c.207C>G c.(205-207)ttC>ttG p.F69L HBG2_ENST00000380259.2_Intron NM_001005289.1 NP_001005289.1 Q8NGJ2 O52H1_HUMAN olfactory receptor, family 52, subfamily H, member 1 69 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(2) 20 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGGAGAGAAAGAAGAACATGG 0.473000 19 55 0 0 0.006122 0 0 DSCAM 1826 broad.mit.edu 37 21 41710050 41710050 + Missense_Mutation SNP C C G TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr21:41710050C>G ENST00000400454.1 - 8 2238 c.1761G>C c.(1759-1761)caG>caC p.Q587H NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 587 Ig-like C2-type 6. 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) CGTGGACGCTCTGGCTGGTGG 0.507000 12 102 0 0 0.010729 0 0 GGTLC1 92086 broad.mit.edu 37 20 23966391 23966391 + Silent SNP G G A TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr20:23966391G>A ENST00000335694.4 - 5 648 c.444C>T c.(442-444)ggC>ggT p.G148G GGTLC1_ENST00000278765.4_Silent_p.G148G|GGTLC1_ENST00000286890.4_Silent_p.G148G NM_178311.2 NP_842563.1 Q9BX51 GGTL1_HUMAN gamma-glutamyltransferase light chain 1 148 gamma-glutamyltransferase activity NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 15 TCACGTCATAGCCGAACCAGA 0.612000 38 142 0 0 0.006230 0 0 HLA-A 3105 broad.mit.edu 37 6 29910349 29910349 + Nonsense_Mutation SNP C C T TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr6:29910349C>T ENST00000396634.1 + 3 360 c.19C>T c.(19-21)Cga>Tga p.R7* HLA-A_ENST00000376806.5_Nonsense_Mutation_p.R7*|HLA-A_ENST00000376809.5_Nonsense_Mutation_p.R7*|HLA-A_ENST00000376802.2_Nonsense_Mutation_p.R7* P30443 1A01_HUMAN major histocompatibility complex, class I, A 7 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 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 CATGGCGCCCCGAACCCTCCT 0.677000 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) 17 65 0 0 0.006122 0 0 PRR12 57479 broad.mit.edu 37 19 50098966 50098966 + Silent SNP G G T TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr19:50098966G>T ENST00000418929.2 + 4 1386 c.1374G>T c.(1372-1374)ggG>ggT p.G458G NM_020719.1 NP_065770.1 Q9ULL5 PRR12_HUMAN proline rich 12 207 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) AGGCCTACGGGCAAGGGTTTG 0.711000 7 20 0.00198382 0.00321251 0.001984 1 0 KANSL1 284058 broad.mit.edu 37 17 44248386 44248386 + Nonsense_Mutation SNP G G C rs142696045 byFrequency TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr17:44248386G>C ENST00000262419.6 - 2 1594 c.1124C>G c.(1123-1125)tCa>tGa p.S375* KANSL1_ENST00000575318.1_Nonsense_Mutation_p.S375*|KANSL1_ENST00000574590.1_Nonsense_Mutation_p.S375*|KANSL1_ENST00000572904.1_Nonsense_Mutation_p.S375*|KANSL1_ENST00000432791.1_Nonsense_Mutation_p.S375*|KANSL1_ENST00000393476.3_5'UTR|KANSL1_ENST00000576248.1_5'UTR NM_001193466.1 NP_001180395.1 Q7Z3B3 K1267_HUMAN KAT8 regulatory NSL complex subunit 1 375 MLL1 complex protein binding TTCTGAAATTGAATTGCTTTT 0.453000 23 121 0 0 0.012319 0 0 FAM69B 138311 broad.mit.edu 37 9 139617956 139617956 + Silent SNP C C T TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr9:139617956C>T ENST00000371691.1 + 3 1864 c.765C>T c.(763-765)taC>taT p.Y255Y SNHG7_ENST00000414282.1_RNA|FAM69B_ENST00000371692.4_Silent_p.Y342Y Q5VUD6 FA69B_HUMAN family with sequence similarity 69, member B 342 endoplasmic reticulum membrane|integral to membrane NS(1)|endometrium(3)|large_intestine(2)|lung(1)|prostate(1) 8 all_cancers(76;0.0882)|all_epithelial(76;0.228) Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;1.03e-05)|Epithelial(140;0.00013) ACTGCACCTACGGGCGCGACT 0.687000 8 13 0 0 0.004482 0 0 SLC1A2 6506 broad.mit.edu 37 11 35308446 35308446 + Missense_Mutation SNP C C G TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr11:35308446C>G ENST00000278379.3 - 8 1426 c.1144G>C c.(1144-1146)Gat>Cat p.D382H SLC1A2_ENST00000395750.1_Missense_Mutation_p.D373H|SLC1A2_ENST00000395753.1_Missense_Mutation_p.D373H|SLC1A2_ENST00000606205.1_Missense_Mutation_p.D382H NM_004171.3 NP_004162.2 P43004 EAA2_HUMAN solute carrier family 1 (glial high affinity glutamate transporter), member 2 382 D-aspartate import|L-glutamate import|synaptic transmission integral to membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity p.D382Y(1) breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1) 24 all_lung(20;0.211)|all_epithelial(35;0.234) all_hematologic(20;0.109) STAD - Stomach adenocarcinoma(6;0.00731) L-Glutamic Acid(DB00142) ACACGCTTATCAATCCCCAGA 0.458000 39 124 0 0 0.006999 0 0 SH3GL3 6457 broad.mit.edu 37 15 84286874 84286874 + Silent SNP C C G TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr15:84286874C>G ENST00000324537.5 + 12 1395 c.903C>G c.(901-903)ctC>ctG p.L301L SH3GL3_ENST00000564054.1_3'UTR|SH3GL3_ENST00000535412.1_3'UTR|SH3GL3_ENST00000434347.1_Silent_p.L301L|SH3GL3_ENST00000427482.2_Silent_p.L293L Q99963 SH3G3_HUMAN SH3-domain GRB2-like 3 293 SH3. central nervous system development|endocytosis|signal transduction early endosome membrane identical protein binding|lipid binding central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1) 30 GTCGTGGTCTCTATGACTTTG 0.398000 20 49 0 0 0.008871 0 0 CCDC83 220047 broad.mit.edu 37 11 85597249 85597249 + Missense_Mutation SNP G G A TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr11:85597249G>A ENST00000280245.4 + 5 862 c.350G>A c.(349-351)cGc>cAc p.R117H CCDC83_ENST00000529676.2_Intron|CCDC83_ENST00000376067.1_Intron|CCDC83_ENST00000342404.3_Missense_Mutation_p.R117H NM_173556.3 NP_775827.2 Q8IWF9 CCD83_HUMAN coiled-coil domain containing 83 117 p.R117H(2)|p.R117L(1) breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|skin(3)|upper_aerodigestive_tract(2) 29 Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572) ACAGATATGCGCATGCAAATA 0.333000 6 15 0 0 0.001984 0 0 FBXL16 146330 broad.mit.edu 37 16 745785 745785 + Missense_Mutation SNP C C T TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr16:745785C>T ENST00000397621.1 - 3 1103 c.772G>A c.(772-774)Gac>Aac p.D258N FBXL16_ENST00000324361.5_Missense_Mutation_p.D258N|FBXL16_ENST00000562563.1_Missense_Mutation_p.D46N NM_153350.3 NP_699181.2 Q8N461 FXL16_HUMAN F-box and leucine-rich repeat protein 16 258 endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1) 10 Hepatocellular(780;0.0218) GCGATGGCGTCGTCGGCCACG 0.687000 20 30 0 0 0.003330 0 0 TBX5 6910 broad.mit.edu 37 12 114804166 114804166 + Silent SNP G G C TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr12:114804166G>C ENST00000310346.4 - 8 1452 c.786C>G c.(784-786)acC>acG p.T262T TBX5_ENST00000526441.1_Silent_p.T262T|TBX5_ENST00000405440.2_Silent_p.T262T|TBX5_ENST00000349716.5_Silent_p.T212T NM_000192.3 NP_000183.2 Q99593 TBX5_HUMAN T-box 5 262 cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 Medulloblastoma(191;0.163)|all_neural(191;0.178) BRCA - Breast invasive adenocarcinoma(302;0.0893) TTTGCCTCACGGTGCTCCTGG 0.512000 4 88 0 0 0.009096 0 0 SLIT1 6585 broad.mit.edu 37 10 98770859 98770859 + Missense_Mutation SNP C C T TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr10:98770859C>T ENST00000266058.4 - 31 3477 c.3232G>A c.(3232-3234)Gac>Aac p.D1078N SLIT1_ENST00000371070.4_Missense_Mutation_p.D1078N|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR NM_003061.2 NP_003052.2 O75093 SLIT1_HUMAN slit homolog 1 (Drosophila) 1078 EGF-like 4. axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis cytoplasm|extracellular space calcium ion binding|Roundabout binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 78 Colorectal(252;0.162) Epithelial(162;2.02e-08)|all cancers(201;1.5e-06) CTGCAGTTGTCACCTGCATAA 0.607000 5 34 0 0 0.000602 0 0 ZNRF4 148066 broad.mit.edu 37 19 5456154 5456154 + Missense_Mutation SNP G G A TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr19:5456154G>A ENST00000222033.4 + 1 729 c.652G>A c.(652-654)Gcc>Acc p.A218T NM_181710.3 NP_859061.3 Q8WWF5 ZNRF4_HUMAN zinc and ring finger 4 218 PA. integral to membrane zinc ion binding NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 UCEC - Uterine corpus endometrioid carcinoma (162;0.0002) GAGCGAGGCCGCCTCGCAGGA 0.672000 34 74 0 0 0.003271 0 0 NOTCH3 4854 broad.mit.edu 37 19 15290215 15290215 + Silent SNP G G A TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr19:15290215G>A ENST00000263388.2 - 21 3495 c.3420C>T c.(3418-3420)ctC>ctT p.L1140L NM_000435.2 NP_000426.2 Q9UM47 NOTC3_HUMAN notch 3 1140 EGF-like 29; calcium-binding (Potential). Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 93 OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15) AGCGGGCCACGAGGTCAATGC 0.602000 12 37 0 0 0.001855 0 0 WASL 8976 broad.mit.edu 37 7 123346798 123346798 + Missense_Mutation SNP C C T TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr7:123346798C>T ENST00000223023.4 - 3 667 c.335G>A c.(334-336)gGa>gAa p.G112E NM_003941.2 NP_003932.3 O00401 WASL_HUMAN Wiskott-Aldrich syndrome-like 112 WH1. actin polymerization or depolymerization|axon guidance|cellular component movement|nitric oxide metabolic process|protein complex assembly|regulation of nitric-oxide synthase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent actin cytoskeleton|cytosol|nucleolus|plasma membrane actin binding|small GTPase regulator activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 ACTTACATCTCCAGCAAAGGT 0.284000 18 38 0 0 0.004990 0 0 COL5A2 1290 broad.mit.edu 37 2 189953461 189953461 + Missense_Mutation SNP G G C TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr2:189953461G>C ENST00000374866.3 - 8 879 c.605C>G c.(604-606)tCt>tGt p.S202C NM_000393.3 NP_000384.2 P05997 CO5A2_HUMAN collagen, type V, alpha 2 202 axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3) 95 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) CCCAAGTCCAGATTTTTCATC 0.353000 18 49 0 0 0.008871 0 0 RBL1 5933 broad.mit.edu 37 20 35695460 35695460 + Silent SNP A A G TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr20:35695460A>G ENST00000373664.3 - 5 687 c.621T>C c.(619-621)gaT>gaC p.D207D RBL1_ENST00000344359.3_Silent_p.D207D NM_002895.2 NP_002886.2 P28749 RBL1_HUMAN retinoblastoma-like 1 (p107) 207 cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent transcription factor binding NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 42 Myeloproliferative disorder(115;0.00878) CAAAAATCAGATCCAAGCAGC 0.303000 25 68 0 0 0.004656 0 0 TCOF1 6949 broad.mit.edu 37 5 149754239 149754239 + Silent SNP C C A TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr5:149754239C>A ENST00000451292.1 + 9 1251 c.1143C>A c.(1141-1143)tcC>tcA p.S381S TCOF1_ENST00000513346.1_Silent_p.S381S|TCOF1_ENST00000394269.3_Silent_p.S381S|TCOF1_ENST00000377797.3_Silent_p.S381S|TCOF1_ENST00000504761.2_Silent_p.S381S|TCOF1_ENST00000323668.7_Silent_p.S304S|TCOF1_ENST00000445265.2_Silent_p.S304S|TCOF1_ENST00000439160.2_Silent_p.S381S Q13428 TCOF_HUMAN Treacher Collins-Franceschetti syndrome 1 381 skeletal system development nucleolus protein binding|transporter activity NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 35 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CCAAGGAGTCCCCCAGGAAAG 0.657000 20 66 1.2644e-06 2.10176e-06 0.010504 1 0 QKI 9444 broad.mit.edu 37 6 163876442 163876442 + Missense_Mutation SNP G G C TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr6:163876442G>C ENST00000361752.3 + 2 825 c.274G>C c.(274-276)Gaa>Caa p.E92Q QKI_ENST00000453779.2_Missense_Mutation_p.E92Q|QKI_ENST00000424802.3_Missense_Mutation_p.E92Q|QKI_ENST00000275262.7_Missense_Mutation_p.E92Q|QKI_ENST00000361195.2_Missense_Mutation_p.E92Q|QKI_ENST00000392127.2_Missense_Mutation_p.E92Q NM_006775.2|NM_206853.2|NM_206854.2|NM_206855.2 NP_006766.1|NP_996735.1|NP_996736.1|NP_996737.1 Q96PU8 QKI_HUMAN QKI, KH domain containing, RNA binding 92 KH. mRNA processing|mRNA transport|regulation of translation|RNA splicing cytoplasm|nucleus|plasma membrane RNA binding|SH3 domain binding central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2) 27 Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203) all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234) GCCTGTAAAAGAATACCCAGA 0.343000 24 54 0 0 0.003330 0 0 UBE2R2 54926 broad.mit.edu 37 9 33917126 33917126 + Nonsense_Mutation SNP C C G TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr9:33917126C>G ENST00000263228.3 + 5 799 c.608C>G c.(607-609)tCa>tGa p.S203* NM_017811.3 NP_060281.2 Q712K3 UB2R2_HUMAN ubiquitin-conjugating enzyme E2R 2 203 Asp/Glu-rich (acidic). protein K48-linked ubiquitination|protein monoubiquitination ATP binding|ubiquitin-protein ligase activity endometrium(1)|kidney(1)|large_intestine(3)|lung(3) 8 LUSC - Lung squamous cell carcinoma(29;0.0176) GBM - Glioblastoma multiforme(74;0.188) GACAACAGCTCAGATTTGCTT 0.463000 8 66 0 0 0.004482 0 0 DUSP10 11221 broad.mit.edu 37 1 221913036 221913036 + Silent SNP G G A TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr1:221913036G>A ENST00000366899.3 - 2 289 c.51C>T c.(49-51)ccC>ccT p.P17P DUSP10_ENST00000323825.3_Intron NM_007207.4 NP_009138.1 Q9Y6W6 DUS10_HUMAN dual specificity phosphatase 10 17 inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|negative regulation of stress-activated MAPK cascade Golgi apparatus|nucleus MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity NS(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 GBM - Glioblastoma multiforme(131;0.0103) GAGGTCGGACGGGCCTAGATA 0.517000 33 76 0 0 0.012213 0 0 OR10A2 341276 broad.mit.edu 37 11 6891450 6891450 + Silent SNP C C T TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr11:6891450C>T ENST00000307322.4 + 1 527 c.465C>T c.(463-465)ttC>ttT p.F155F NM_001004460.1 NP_001004460.1 Q9H208 O10A2_HUMAN olfactory receptor, family 10, subfamily A, member 2 155 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1) 24 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13) GTTTTCCATTCTGTGGCACCA 0.537000 33 114 0 0 0.003271 0 0 CCND2 894 broad.mit.edu 37 12 4409145 4409145 + Silent SNP C C T TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr12:4409145C>T ENST00000261254.3 + 5 1109 c.840C>T c.(838-840)acC>acT p.T280T NM_001759.3 NP_001750.1 P30279 CCND2_HUMAN cyclin D2 280 cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus protein kinase binding breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1) 17 all cancers(3;4.15e-10)|GBM - Glioblastoma multiforme(3;6.34e-05)|Colorectal(7;0.00245)|OV - Ovarian serous cystadenocarcinoma(31;0.00301)|COAD - Colon adenocarcinoma(12;0.0264)|STAD - Stomach adenocarcinoma(119;0.206) AAGCCAGCACCCCTACAGACG 0.547000 T IGL@ """NHL,CLL""" 3 29 0 0 0.004672 0 0 GRIN2B 2904 broad.mit.edu 37 12 13722780 13722780 + Silent SNP C C A TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr12:13722780C>A ENST00000279593.3 - 11 2552 c.2343G>T c.(2341-2343)ctG>ctT p.L781L NM_000834.3 NP_000825.2 Q13224 NMDE2_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2B 781 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) CAAAGAGCTGCAGGATAGCAA 0.488000 18 46 1.33834e-09 2.26975e-09 0.007413 1 0 MED1 5469 broad.mit.edu 37 17 37576168 37576168 + Missense_Mutation SNP G G C TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr17:37576168G>C ENST00000300651.6 - 14 1322 c.1099C>G c.(1099-1101)Ctt>Gtt p.L367V MED1_ENST00000394287.3_Missense_Mutation_p.L367V NM_004774.3 NP_004765.2 Q15648 MED1_HUMAN mediator complex subunit 1 367 Interaction with ESR1.|Interaction with the Mediator complex and THRA.|Interaction with the Mediator complex. androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter mediator complex DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1) 59 Ovarian(249;1.78e-06)|Lung SC(565;0.0262) Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146) UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649) TGACCAGGAAGAGCCTGGGCA 0.433000 HNSCC(31;0.082) 23 36 0 0 0.014323 0 0 ATP2A1 487 broad.mit.edu 37 16 28906160 28906160 + Silent SNP G G A TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr16:28906160G>A ENST00000395503.4 + 12 1489 c.1305G>A c.(1303-1305)gaG>gaA p.E435E ATP2A1_ENST00000357084.3_Silent_p.E435E|ATP2A1_ENST00000536376.1_Silent_p.E310E NM_004320.4 NP_004311.1 O14983 AT2A1_HUMAN ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 435 apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2) 38 GTGTCTATGAGAAGGTCGGCG 0.567000 17 41 0 0 0.004007 0 0 SYNE1 23345 broad.mit.edu 37 6 152706952 152706952 + Missense_Mutation SNP C C T TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr6:152706952C>T ENST00000367255.5 - 55 9110 c.8509G>A c.(8509-8511)Gag>Aag p.E2837K SYNE1_ENST00000448038.1_Missense_Mutation_p.E2844K|SYNE1_ENST00000341594.5_Missense_Mutation_p.E2876K|SYNE1_ENST00000265368.4_Missense_Mutation_p.E2837K|SYNE1_ENST00000423061.1_Missense_Mutation_p.E2844K NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 2837 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TTCACAATCTCTTCCACTTTC 0.408000 HNSCC(10;0.0054) 19 79 0 0 0.008871 0 0 KAZN 23254 broad.mit.edu 37 1 14925658 14925658 + Silent SNP C C T TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr1:14925658C>T ENST00000376030.2 + 1 459 c.165C>T c.(163-165)agC>agT p.S55S KAZN_ENST00000422387.2_Silent_p.S55S|KAZN_ENST00000503743.1_Silent_p.S55S NM_201628.2 NP_963922.2 Q674X7 KAZRN_HUMAN kazrin, periplakin interacting protein 55 keratinization cornified envelope|cytoplasm|desmosome|nucleus central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2) 25 ccgcggccagcgcctcggcgg 0.756000 3 4 0 0 0.004672 0 0 TMEM140 55281 broad.mit.edu 37 7 134849458 134849458 + Missense_Mutation SNP G G A rs143180494 by1000genomes TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr7:134849458G>A ENST00000275767.2 + 2 488 c.265G>A c.(265-267)Ggg>Agg p.G89R C7orf49_ENST00000459937.1_Intron NM_018295.4 NP_060765.4 Q9NV12 TM140_HUMAN transmembrane protein 140 89 integral to membrane kidney(1)|large_intestine(2)|lung(2) 5 TGGCGTGTACGGGTCCCTGGT 0.652000 38 69 0 0 0.004878 0 0 S100A2 6273 broad.mit.edu 37 1 153533987 153533987 + Silent SNP C C T TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr1:153533987C>T ENST00000368708.3 - 3 594 c.222G>A c.(220-222)gaG>gaA p.E74E S100A2_ENST00000368707.4_3'UTR|S100A2_ENST00000368709.1_Silent_p.E74E|S100A2_ENST00000368710.1_Silent_p.E74E|S100A2_ENST00000497140.1_Silent_p.E41E|S100A2_ENST00000487430.2_Silent_p.E74E NM_005978.3 NP_005969.1 P29034 S10A2_HUMAN S100 calcium binding protein A2 75 EF-hand 2. endothelial cell migration calcium ion binding endometrium(1)|large_intestine(2)|lung(1)|ovary(1) 5 all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.171) AAACAGCATACTCCTGGAAGT 0.527000 56 149 0 0 0.014410 0 0 IGSF9B 22997 broad.mit.edu 37 11 133792107 133792107 + Silent SNP G G C TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr11:133792107G>C ENST00000321016.8 - 17 2522 c.2292C>G c.(2290-2292)ctC>ctG p.L764L IGSF9B_ENST00000533871.2_Silent_p.L764L Q9UPX0 TUTLB_HUMAN immunoglobulin superfamily, member 9B 764 integral to membrane|plasma membrane breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 all_hematologic(175;0.127) all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221) GGGTGATGGAGAGTGGAGGGT 0.602000 4 16 0 0 0.009096 0 0 BMS1P20 96610 broad.mit.edu 37 22 22664186 22664186 + RNA SNP A A G TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr22:22664186A>G ENST00000426066.1 + 0 709 NR_027293.1 CAGATCAAGAAAGCACTCTGA 0.498000 3 65 0 0 0.000602 0 0 PDIA2 64714 broad.mit.edu 37 16 335330 335330 + Missense_Mutation SNP G G A TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr16:335330G>A ENST00000219406.6 + 6 832 c.814G>A c.(814-816)Gcg>Acg p.A272T PDIA2_ENST00000404312.1_Missense_Mutation_p.A269T|PDIA2_ENST00000462950.1_3'UTR NM_006849.2 NP_006840.2 Q13087 PDIA2_HUMAN protein disulfide isomerase family A, member 2 272 apoptosis|cell redox homeostasis|glycerol ether metabolic process|protein folding|protein retention in ER lumen|response to hypoxia endoplasmic reticulum lumen electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity|steroid binding breast(1)|central_nervous_system(4)|kidney(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 17 all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186) CAAGATCTTCGCGGCCAGGAT 0.642000 11 40 0 0 0.010729 0 0 ORAI1 84876 broad.mit.edu 37 12 122079382 122079382 + Missense_Mutation SNP G G A TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr12:122079382G>A ENST00000330079.7 + 2 938 c.745G>A c.(745-747)Ggc>Agc p.G249S NM_032790.3 NP_116179.2 Q96D31 CRCM1_HUMAN ORAI calcium release-activated calcium modulator 1 247 platelet activation|positive regulation of calcium ion transport integral to plasma membrane protein binding|store-operated calcium channel activity breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1) 11 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;0.000415)|Epithelial(86;0.00148) GGTGCCCTTCGGCCTGATCTT 0.627000 28 56 0 0 0.004656 0 0 ROBO3 64221 broad.mit.edu 37 11 124750348 124750348 + Silent SNP C C T TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr11:124750348C>T ENST00000397801.1 + 27 4185 c.3993C>T c.(3991-3993)ttC>ttT p.F1331F ROBO3_ENST00000525482.1_3'UTR|ROBO3_ENST00000538940.1_Silent_p.F1309F|ROBO3_ENST00000543966.1_Silent_p.F94F NM_022370.3 NP_071765.2 Q96MS0 ROBO3_HUMAN roundabout, axon guidance receptor, homolog 3 (Drosophila) 1331 axon midline choice point recognition integral to membrane receptor activity breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 35 all_hematologic(175;0.215) Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296) GACCAAGCTTCCTGTCCCGGG 0.662000 10 17 0 0 0.008291 0 0 RALGAPA1 253959 broad.mit.edu 37 14 36097115 36097115 + Missense_Mutation SNP C C T TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr14:36097115C>T ENST00000258840.6 - 34 5051 c.4661G>A c.(4660-4662)cGc>cAc p.R1554H RALGAPA1_ENST00000307138.6_Missense_Mutation_p.R1507H|RALGAPA1_ENST00000389698.3_Missense_Mutation_p.R1507H|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.R1520H Q6GYQ0 RGPA1_HUMAN Ral GTPase activating protein, alpha subunit 1 (catalytic) 1507 Minimal domain that binds to TCF3/E12 (By similarity). activation of Ral GTPase activity cytosol|mitochondrion|nucleus protein heterodimerization activity|Ral GTPase activator activity breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 AATAACAGTGCGGGCTGCTAT 0.398000 45 35 0 0 0.014410 0 0 FZD2 2535 broad.mit.edu 37 17 42635585 42635585 + Missense_Mutation SNP G G A TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr17:42635585G>A ENST00000315323.3 + 1 661 c.529G>A c.(529-531)Ggg>Agg p.G177R NM_001466.3 NP_001457.1 Q14332 FZD2_HUMAN frizzled family receptor 2 177 axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway apical part of cell|cytoplasm|integral to membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8) 33 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.189) gccgggtgccgggggcacccc 0.766000 5 13 0 0 0.001984 0 0 ARGFX 503582 broad.mit.edu 37 3 121303817 121303817 + Missense_Mutation SNP G G C TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr3:121303817G>C ENST00000334384.3 + 3 284 c.274G>C c.(274-276)Gag>Cag p.E92Q NM_001012659.1 NP_001012677.1 A6NJG6 ARGFX_HUMAN arginine-fifty homeobox 92 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 15 GBM - Glioblastoma multiforme(114;0.152) ACAGTATGAGGAGCTAGAAGC 0.443000 30 116 0 0 0.006320 0 0 CCDC147 159686 broad.mit.edu 37 10 106113661 106113661 + Silent SNP T T A TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr10:106113661T>A ENST00000369704.3 + 1 140 c.6T>A c.(4-6)gcT>gcA p.A2A CCDC147_ENST00000312902.5_5'UTR NM_001008723.1 NP_001008723.1 Q5T655 CC147_HUMAN coiled-coil domain containing 147 2 NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189) TCAGGATGGCTGAGGTCAGGA 0.597000 OREG0020519 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 20 32 0 0 0.003954 0 0 RAB13 5872 broad.mit.edu 37 1 153957221 153957221 + Missense_Mutation SNP C C T TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr1:153957221C>T ENST00000368575.3 - 2 276 c.161G>A c.(160-162)gGg>gAg p.G54E RAB13_ENST00000462680.1_5'UTR NM_002870.2 NP_002861.1 P51153 RAB13_HUMAN RAB13, member RAS oncogene family 54 cell adhesion|protein transport|small GTPase mediated signal transduction|vesicle-mediated transport cytoplasmic vesicle membrane|tight junction GTP binding|GTPase activity breast(1)|endometrium(3)|kidney(1)|lung(5)|urinary_tract(1) 11 all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) GATCTTCTTCCCCTCTATATC 0.448000 4 31 0 0 0.009096 0 0 AGBL1 123624 broad.mit.edu 37 15 86687068 86687068 + Missense_Mutation SNP G G A TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr15:86687068G>A ENST00000441037.2 + 2 211 c.116G>A c.(115-117)gGc>gAc p.G39D AGBL1_ENST00000421325.2_Missense_Mutation_p.G39D NM_152336.2 NP_689549.2 Q96MI9 CBPC4_HUMAN ATP/GTP binding protein-like 1 39 C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis cytosol metallocarboxypeptidase activity|tubulin binding|zinc ion binding NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 62 GCCAAAGTTGGCCTAAGAGGT 0.522000 17 39 0 0 0.004990 0 0 GRM3 2913 broad.mit.edu 37 7 86468769 86468769 + Missense_Mutation SNP G G A TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr7:86468769G>A ENST00000361669.2 + 4 3038 c.1939G>A c.(1939-1941)Ggg>Agg p.G647R GRM3_ENST00000439827.1_Intron|GRM3_ENST00000546348.1_Missense_Mutation_p.G239R|GRM3_ENST00000394720.2_Intron|GRM3_ENST00000536043.1_Missense_Mutation_p.G519R NM_000840.2 NP_000831.2 Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 647 synaptic transmission integral to plasma membrane NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5) 109 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) GCGCCGACTCGGGCTGGGGAG 0.527000 53 136 0 0 0.014410 0 0 SYAP1 94056 broad.mit.edu 37 X 16737953 16737953 + Missense_Mutation SNP G G C TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chrX:16737953G>C ENST00000380155.3 + 1 199 c.106G>C c.(106-108)Gag>Cag p.E36Q SYAP1_ENST00000495743.1_3'UTR NM_032796.3 NP_116185.2 Q96A49 SYAP1_HUMAN synapse associated protein 1 36 endometrium(3)|lung(4)|pancreas(1)|prostate(1)|skin(1) 10 Hepatocellular(33;0.0997) GACGGTGGCTGAGTCTGCGGA 0.667000 4 3 0 0 0.009096 0 0 TACC2 10579 broad.mit.edu 37 10 123845099 123845099 + Missense_Mutation SNP G G C TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr10:123845099G>C ENST00000369005.1 + 4 3424 c.3084G>C c.(3082-3084)tgG>tgC p.W1028C TACC2_ENST00000513429.1_Intron|TACC2_ENST00000334433.3_Missense_Mutation_p.W1028C|TACC2_ENST00000453444.2_Missense_Mutation_p.W1028C|TACC2_ENST00000515273.1_Missense_Mutation_p.W1028C|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515603.1_Missense_Mutation_p.W1028C NM_206862.2 NP_996744.2 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing protein 2 1028 microtubule organizing center|nucleus nuclear hormone receptor binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 83 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) CCCCACTCTGGGGCTTGAGTA 0.562000 12 41 0 0 0.010729 0 0 PGAM5 192111 broad.mit.edu 37 12 133295392 133295392 + Missense_Mutation SNP C C G TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr12:133295392C>G ENST00000317555.2 + 6 822 c.764C>G c.(763-765)tCc>tGc p.S255C PGAM5_ENST00000498926.2_Intron|PGAM5_ENST00000454808.2_Intron|PXMP2_ENST00000545677.1_Intron|PGAM5_ENST00000543955.1_Intron|PGAM5_ENST00000541034.1_Intron NM_138575.3 NP_612642.2 Q96HS1 PGAM5_HUMAN phosphoglycerate mutase family member 5 0 integral to membrane|mitochondrial outer membrane phosphoprotein phosphatase activity endometrium(1)|kidney(1)|large_intestine(1)|lung(2) 5 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.89e-08)|Epithelial(86;1.14e-07)|all cancers(50;3.57e-06) CTTCTGGGGTCCTGACCTCTT 0.637000 19 63 0 0 0.008871 0 0 FRG1BP 284802 broad.mit.edu 37 20 29628263 29628263 + Missense_Mutation SNP A A G TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr20:29628263A>G ENST00000278882.3 + 6 645 c.265A>G c.(265-267)Att>Gtt p.I89V FRG1B_ENST00000439954.2_Missense_Mutation_p.I94V|FRG1B_ENST00000358464.4_Missense_Mutation_p.I89V p.I89V(4) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TAGCTGCTTTATTAGATGCAA 0.363000 5 76 0 0 0.001984 0 0 C2orf44 80304 broad.mit.edu 37 2 24261335 24261335 + Silent SNP G G A TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr2:24261335G>A ENST00000295148.4 - 2 1087 c.1030C>T c.(1030-1032)Ctg>Ttg p.L344L C2orf44_ENST00000406895.3_Silent_p.L344L NM_025203.2 NP_079479.1 Q9H6R7 CB044_HUMAN chromosome 2 open reading frame 44 344 protein binding C2orf44/ALK(2) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 24 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AATGCTATCAGATCAGGAACC 0.413000 T ALK NSCLC 16 44 0 0 0.003163 0 0 DDX20 11218 broad.mit.edu 37 1 112309065 112309065 + Silent SNP C C T TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr1:112309065C>T ENST00000475700.1 + 3 3201 c.843C>T c.(841-843)taC>taT p.Y281Y DDX20_ENST00000369702.4_Silent_p.Y673Y Q9UHI6 DDX20_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 20 673 assembly of spliceosomal tri-snRNP|ncRNA metabolic process Cajal body|cytoskeleton|cytosol|spliceosomal complex ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding endometrium(3)|kidney(7)|large_intestine(6)|lung(3)|pancreas(1)|prostate(1) 21 all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05) Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) ATAAGTCATACTTGGAAGGCT 0.453000 14 43 0 0 0.003163 0 0 MYBPC2 4606 broad.mit.edu 37 19 50958903 50958903 + Splice_Site SNP T T C TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr19:50958903T>C ENST00000357701.5 + 20 2389 c.e20+2 NM_004533.3 NP_004524.3 Q14324 MYPC2_HUMAN myosin binding protein C, fast type cell adhesion|muscle filament sliding cytosol|myosin filament actin binding|structural constituent of muscle breast(1) 1 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144) TGGAAGGCTGTGAGTGACCCT 0.602000 31 46 0 0 0.010818 0 0 TANGO6 79613 broad.mit.edu 37 16 69007962 69007962 + Missense_Mutation SNP G G C TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr16:69007962G>C ENST00000261778.1 + 15 2745 c.2733G>C c.(2731-2733)gaG>gaC p.E911D NM_024562.1 NP_078838.1 transport and golgi organization 6 homolog (Drosophila) TCTATCCTGAGAAAATCTTGC 0.458000 11 23 0 0 0.008291 0 0 SEMG1 6406 broad.mit.edu 37 20 43837187 43837187 + Missense_Mutation SNP C C A rs145325570 byFrequency TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr20:43837187C>A ENST00000372781.3 + 2 1306 c.1249C>A c.(1249-1251)Cta>Ata p.L417I SEMG1_ENST00000244069.6_Missense_Mutation_p.L357I NM_003007.3 NP_002998.1 semenogelin I cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1) 32 Myeloproliferative disorder(115;0.0122) AGAACAAGACCTACTCAGTCA 0.438000 21 48 4.96729e-08 8.36772e-08 0.008871 1 0 VPS52 6293 broad.mit.edu 37 6 33219368 33219368 + Missense_Mutation SNP G G A TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr6:33219368G>A ENST00000445902.2 - 19 2170 c.1952C>T c.(1951-1953)tCa>tTa p.S651L VPS52_ENST00000478934.1_5'UTR|HCG25_ENST00000450514.1_RNA|HCG25_ENST00000442228.1_RNA|HCG25_ENST00000427196.1_RNA|HCG25_ENST00000422366.1_RNA|VPS52_ENST00000482399.1_3'UTR|VPS52_ENST00000436044.2_Missense_Mutation_p.S526L NM_022553.4 NP_072047.4 Q8N1B4 VPS52_HUMAN vacuolar protein sorting 52 homolog (S. cerevisiae) 651 protein transport endosome membrane|Golgi apparatus endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1) 28 TTCCACTGATGATTTCCAGGA 0.507000 30 74 0 0 0.009535 0 0 PTPRC 5788 broad.mit.edu 37 1 198685828 198685828 + Missense_Mutation SNP C C G TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr1:198685828C>G ENST00000367376.2 + 13 1474 c.1303C>G c.(1303-1305)Ctg>Gtg p.L435V PTPRC_ENST00000352140.3_Missense_Mutation_p.L387V|PTPRC_ENST00000594404.1_Missense_Mutation_p.L274V|PTPRC_ENST00000348564.6_Missense_Mutation_p.L276V|PTPRC_ENST00000442510.2_Missense_Mutation_p.L437V NM_002838.4 NP_002829.3 P08575 PTPRC_HUMAN protein tyrosine phosphatase, receptor type, C 435 Fibronectin type-III 1. axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway focal adhesion|integral to plasma membrane|membrane raft protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 111 TTGCCTCAATCTGGATAAAAA 0.303000 12 54 0 0 0.013537 0 0 NCOA7 135112 broad.mit.edu 37 6 126203622 126203622 + Silent SNP G G A TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr6:126203622G>A ENST00000368357.3 + 8 976 c.624G>A c.(622-624)tcG>tcA p.S208S NCOA7_ENST00000392477.2_Silent_p.S208S|NCOA7_ENST00000229634.9_Silent_p.S104S NM_001199619.1|NM_001199620.1 NP_001186548.1|NP_001186549.1 Q8NI08 NCOA7_HUMAN nuclear receptor coactivator 7 208 cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2) 39 UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237) GAGTCTTATCGTCTACTTCTG 0.348000 7 39 0 0 0.003080 0 0 CLDND1 56650 broad.mit.edu 37 3 98240146 98240146 + Missense_Mutation SNP T T G TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr3:98240146T>G ENST00000503004.1 - 2 1002 c.123A>C c.(121-123)gaA>gaC p.E41D CLDND1_ENST00000513287.1_Missense_Mutation_p.E41D|CLDND1_ENST00000510545.1_Missense_Mutation_p.E41D|CLDND1_ENST00000507874.1_Missense_Mutation_p.E41D|CLDND1_ENST00000508503.1_5'UTR|CLDND1_ENST00000437922.1_Missense_Mutation_p.E64D|CLDND1_ENST00000502288.1_Intron|CLDND1_ENST00000394180.2_Missense_Mutation_p.E41D|CLDND1_ENST00000394181.2_Missense_Mutation_p.E41D|CLDND1_ENST00000394185.2_Missense_Mutation_p.E41D|CLDND1_ENST00000341181.6_Missense_Mutation_p.E41D|CLDND1_ENST00000511081.1_Intron Q9NY35 CLDN1_HUMAN claudin domain containing 1 41 integral to membrane central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1) 9 CACTGGAATTTTCTTGAACTG 0.393000 15 46 0 0 0.004007 0 0 MECOM 2122 broad.mit.edu 37 3 168834351 168834351 + Nonsense_Mutation SNP C C A TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr3:168834351C>A ENST00000464456.1 - 7 1945 c.745G>T c.(745-747)Gga>Tga p.G249* MECOM_ENST00000264674.3_Nonsense_Mutation_p.G314*|MECOM_ENST00000433243.2_Nonsense_Mutation_p.G250*|MECOM_ENST00000392736.3_Nonsense_Mutation_p.G249*|MECOM_ENST00000494292.1_Nonsense_Mutation_p.G437*|MECOM_ENST00000460814.1_Nonsense_Mutation_p.G249*|MECOM_ENST00000472280.1_Nonsense_Mutation_p.G250*|MECOM_ENST00000468789.1_Nonsense_Mutation_p.G249* NM_001164000.1 NP_001157472.1 Q13465 MDS1_HUMAN MDS1 and EVI1 complex locus 0 sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 85 CCAAAAAATCCACCTGCCGCA 0.453000 18 59 1.2644e-06 2.10176e-06 0.010504 1 0 DNTTIP2 30836 broad.mit.edu 37 1 94342345 94342345 + Silent SNP G G A TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr1:94342345G>A ENST00000436063.2 - 2 1203 c.1146C>T c.(1144-1146)ccC>ccT p.P382P DNTTIP2_ENST00000460191.1_5'UTR NM_014597.4 NP_055412.2 Q5QJE6 TDIF2_HUMAN deoxynucleotidyltransferase, terminal, interacting protein 2 382 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 38 all_lung(203;0.0111)|Lung NSC(277;0.0347) all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128) TTGCTTTTATGGGGCTCTTTT 0.398000 139 171 0 0 0.014410 0 0 MYNN 55892 broad.mit.edu 37 3 169496734 169496734 + Missense_Mutation SNP G G C TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr3:169496734G>C ENST00000349841.5 + 3 1108 c.445G>C c.(445-447)Gat>Cat p.D149H MYNN_ENST00000392733.1_Missense_Mutation_p.D149H|MYNN_ENST00000356716.4_Missense_Mutation_p.D149H|RP11-362K14.5_ENST00000602342.1_RNA|MYNN_ENST00000544106.1_Missense_Mutation_p.D149H NM_018657.4 NP_061127.1 Q9NPC7 MYNN_HUMAN myoneurin 149 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197) Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676) TACTCTGCGAGATTATAATAA 0.343000 21 36 0 0 0.008871 0 0 TICRR 90381 broad.mit.edu 37 15 90143870 90143870 + Nonsense_Mutation SNP C C T TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr15:90143870C>T ENST00000268138.7 + 9 2212 c.2107C>T c.(2107-2109)Cga>Tga p.R703* TICRR_ENST00000560985.1_Nonsense_Mutation_p.R702* TOPBP1-interacting checkpoint and replication regulator TAAAAGTCTTCGACAGAATCT 0.303000 6 19 0 0 0.003080 0 0 C2orf44 80304 broad.mit.edu 37 2 24261747 24261747 + Silent SNP G G C TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr2:24261747G>C ENST00000295148.4 - 2 675 c.618C>G c.(616-618)gtC>gtG p.V206V C2orf44_ENST00000406895.3_Silent_p.V206V NM_025203.2 NP_079479.1 Q9H6R7 CB044_HUMAN chromosome 2 open reading frame 44 206 protein binding C2orf44/ALK(2) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 24 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TGATGGAGCAGACGTGGCTGT 0.488000 T ALK NSCLC 15 47 0 0 0.003163 0 0 CEACAM6 4680 broad.mit.edu 37 19 42260628 42260628 + Missense_Mutation SNP G G A rs145319104 TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr19:42260628G>A ENST00000199764.6 + 2 403 c.185G>A c.(184-186)cGt>cAt p.R62H CEA_ENST00000598976.1_Intron NM_002483.4 NP_002474.3 P40199 CEAM6_HUMAN carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen) 62 Ig-like V-type. cell-cell signaling|signal transduction anchored to membrane|integral to plasma membrane breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797) CCCCAGAATCGTATTGGTTAC 0.512000 6 189 0 0 0.001168 0 0 MS4A2 2206 broad.mit.edu 37 11 59857261 59857261 + Silent SNP G G A TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr11:59857261G>A ENST00000278888.3 + 2 255 c.153G>A c.(151-153)ctG>ctA p.L51L NM_000139.4 NP_000130.1 Q01362 FCERB_HUMAN membrane-spanning 4-domains, subfamily A, member 2 51 cell proliferation|humoral immune response integral to plasma membrane calcium channel activity endometrium(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2) 17 all_epithelial(135;0.245) Omalizumab(DB00043) ATACATGGCTGACAGTTTTGA 0.468000 23 44 0 0 0.014323 0 0 ZNF789 285989 broad.mit.edu 37 7 99084583 99084583 + Missense_Mutation SNP T T G TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr7:99084583T>G ENST00000331410.5 + 5 1020 c.750T>G c.(748-750)tgT>tgG p.C250W ZNF789_ENST00000494186.1_Intron|ZNF789_ENST00000493485.1_Intron NM_213603.2 NP_998768.2 Q5FWF6 ZN789_HUMAN zinc finger protein 789 250 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1) 11 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) ATAAACAGTGTCACCTGCAAA 0.428000 27 67 0 0 0.004656 0 0 EHD4 30844 broad.mit.edu 37 15 42192864 42192864 + Missense_Mutation SNP C C A TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr15:42192864C>A ENST00000220325.4 - 6 1688 c.1605G>T c.(1603-1605)aaG>aaT p.K535N NM_139265.3 NP_644670.1 Q9H223 EHD4_HUMAN EH-domain containing 4 535 EH. endocytic recycling|protein homooligomerization early endosome membrane|endoplasmic reticulum|nucleus|recycling endosome membrane ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(7)|ovary(2)|stomach(1)|urinary_tract(1) 20 all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091) OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538) TGGGCAGGGACTTCCTGTGCG 0.667000 11 10 3.86212e-05 6.3359e-05 0.008291 1 0 SH2B1 25970 broad.mit.edu 37 16 28883683 28883683 + Silent SNP T T G TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr16:28883683T>G ENST00000337120.5 + 6 4977 c.1686T>G c.(1684-1686)ggT>ggG p.G562G SH2B1_ENST00000322610.8_Silent_p.G562G|SH2B1_ENST00000545570.1_Silent_p.G252G|SH2B1_ENST00000538342.1_Silent_p.G226G|SH2B1_ENST00000359285.5_Silent_p.G562G|SH2B1_ENST00000395532.4_Silent_p.G562G|SH2B1_ENST00000563674.1_Intron NM_001145812.1|NM_015503.2 NP_001139284.1|NP_056318.2 Q9NRF2 SH2B1_HUMAN SH2B adaptor protein 1 562 SH2. blood coagulation|intracellular signal transduction cytosol|membrane|nucleus signal transducer activity endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 CAAGGCGGGGTGAATACGTCC 0.612000 4 60 0 0 0.001168 0 0 GS1-124K5.2 0 broad.mit.edu 37 7 65888988 65888988 + RNA DEL T T - TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr7:65888988delT ENST00000442578.1 - 0 826 tttttttttcttttttttttt 0.488 2 4 --- --- --- --- PODXL 5420 broad.mit.edu 37 7 131241030 131241035 + In_Frame_Del DEL GGCGAC GGCGAC - rs11277659 TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr7:131241030_131241035delGGCGAC ENST00000541194.1 - 1 341_346 c.84_89delGTCGCC c.(82-90)ccc>cc p.PSP28del PODXL_ENST00000465001.1_Intron|PODXL_ENST00000537928.1_In_Frame_Del_p.PSP28del|PODXL_ENST00000322985.9_In_Frame_Del_p.PSP28del|PODXL_ENST00000378555.3_In_Frame_Del_p.PSP28del NM_001018111.2 NP_001018121.1 O00592 PODXL_HUMAN podocalyxin-like 28 cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle p.P30_S31delPS(2) NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 24 Melanoma(18;0.162) ATTCTGGGAGggcgacggcgacggcg 0.748 3 4 --- --- --- --- MBD6 114785 broad.mit.edu 37 12 57920934 57920934 + Frame_Shift_Del DEL C C - TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr12:57920934delC ENST00000355673.3 + 7 2362 c.2006delC c.(2005-2007)gcfs p.A669fs MBD6_ENST00000431731.2_Frame_Shift_Del_p.A669fs NM_052897.3 NP_443129.3 Q96DN6 MBD6_HUMAN methyl-CpG binding domain protein 6 669 Pro-rich. chromosome|nucleus chromatin binding|DNA binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1) 31 CCACTTTCAGCCCCCCCTACC 0.642 14 29 --- --- --- --- CTRB2 440387 broad.mit.edu 37 16 75238201 75238201 + Frame_Shift_Del DEL A A - TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr16:75238201delA ENST00000303037.8 - 7 693 c.650delT c.(649-651)cgfs p.L217fs NM_001025200.3 NP_001020371.3 Q6GPI1 CTRB2_HUMAN chymotrypsinogen B2 217 Peptidase S1. digestion|proteolysis extracellular space serine-type endopeptidase activity endometrium(1)|large_intestine(1)|lung(2) 4 CTGGCAGACCAGGGGGCCTCC 0.657 18 49 --- --- --- --- SREBF1 6720 broad.mit.edu 37 17 17720296 17720297 + Frame_Shift_Ins INS - - TT TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr17:17720296_17720297insTT ENST00000355815.4 - 10 2019_2020 c.1850_1851insAA c.(1849-1851)acafs p.T617fs SREBF1_ENST00000395757.1_Frame_Shift_Ins_p.T333fs|SREBF1_ENST00000338854.5_Frame_Shift_Ins_p.T587fs|SREBF1_ENST00000261646.5_Frame_Shift_Ins_p.T587fs NM_001005291.2 NP_001005291.1 P36956 SRBP1_HUMAN sterol regulatory element binding transcription factor 1 587 cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1) 14 GGTCAGCCTGCTTGCGATGCCT 0.653 37 100 --- --- --- --- RSAD1 55316 broad.mit.edu 37 17 48556334 48556334 + Frame_Shift_Del DEL C C - TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr17:48556334delC ENST00000258955.2 + 1 174 c.89delC c.(88-90)tcfs p.S30fs NM_018346.1 NP_060816.1 Q9HA92 RSAD1_HUMAN radical S-adenosyl methionine domain containing 1 30 porphyrin biosynthetic process mitochondrion 4 iron, 4 sulfur cluster binding|coproporphyrinogen oxidase activity|metal ion binding breast(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1) 16 Breast(11;1.93e-18) BRCA - Breast invasive adenocarcinoma(22;1.55e-09) GCAGGAGGGTCCCCGAGTCCT 0.776 OREG0024566 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 2 4 --- --- --- --- ZNF831 128611 broad.mit.edu 37 20 57768086 57768086 + Frame_Shift_Del DEL T T - TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr20:57768086delT ENST00000371030.2 + 1 2012 c.2012delT c.(2011-2013)gcfs p.V671fs NM_178457.1 NP_848552.1 Q5JPB2 ZN831_HUMAN zinc finger protein 831 671 intracellular nucleic acid binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) TCAGGCACAGTCCCCACCCAA 0.622 19 35 --- --- --- ---