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 S100PBP 64766 broad.mit.edu 37 1 33291705 33291705 + Missense_Mutation SNP T T C TCGA-EJ-5514-01A-01D-1576-08 TCGA-EJ-5514-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx f28f091d-5cd5-447f-b956-3ef7eb305fe2 7b498228-7d17-4b2e-b815-123ebfe1f366 g.chr1:33291705T>C ENST00000373475.5 + 3 259 c.5T>C c.(4-6)aTg>aCg p.M2T S100PBP_ENST00000373476.1_Missense_Mutation_p.M2T|S100PBP_ENST00000398243.3_Missense_Mutation_p.M2T|S100PBP_ENST00000356689.3_3'UTR NM_022753.3 NP_073590.2 Q96BU1 S1PBP_HUMAN S100P binding protein 2 nucleus calcium-dependent protein binding p.M2T(1) endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|stomach(1) 16 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244) CCAGAAATGATGTGCTCACGG 0.428 48 106 --- --- --- --- C1orf177 163747 broad.mit.edu 37 1 55280637 55280637 + Silent SNP C C T TCGA-EJ-5514-01A-01D-1576-08 TCGA-EJ-5514-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx f28f091d-5cd5-447f-b956-3ef7eb305fe2 7b498228-7d17-4b2e-b815-123ebfe1f366 g.chr1:55280637C>T ENST00000358193.3 + 8 1029 c.975C>T c.(973-975)ccC>ccT p.P325P C1orf177_ENST00000371273.3_Silent_p.P325P NM_152607.2 NP_689820 Q3ZCV2 CA177_HUMAN chromosome 1 open reading frame 177 325 p.P325P(1) breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2) 17 AATGCAAACCCGTCAACCAGC 0.547 41 140 --- --- --- --- LRIG2 9860 broad.mit.edu 37 1 113636959 113636959 + Splice_Site SNP A A T TCGA-EJ-5514-01A-01D-1576-08 TCGA-EJ-5514-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx f28f091d-5cd5-447f-b956-3ef7eb305fe2 7b498228-7d17-4b2e-b815-123ebfe1f366 g.chr1:113636959A>T ENST00000361127.5 + 5 713 c.e5-1 NM_014813.1 NP_055628.1 O94898 LRIG2_HUMAN leucine-rich repeats and immunoglobulin-like domains 2 cytoplasm|integral to membrane|plasma membrane p.?(2) breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1) 31 Lung SC(450;0.246) all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986) Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15) TGTTTATTTTAGGAATTTAAG 0.323 4 80 --- --- --- --- CACNA1E 777 broad.mit.edu 37 1 181762828 181762828 + Missense_Mutation SNP G G A TCGA-EJ-5514-01A-01D-1576-08 TCGA-EJ-5514-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx f28f091d-5cd5-447f-b956-3ef7eb305fe2 7b498228-7d17-4b2e-b815-123ebfe1f366 g.chr1:181762828G>A ENST00000357570.5 + 45 6091 c.5779G>A c.(5779-5781)Gtg>Atg p.V1927M CACNA1E_ENST00000360108.3_Missense_Mutation_p.V1957M|CACNA1E_ENST00000526775.1_Intron|CACNA1E_ENST00000367567.4_Intron|CACNA1E_ENST00000367573.2_Missense_Mutation_p.V1976M|CACNA1E_ENST00000358338.5_Intron|CACNA1E_ENST00000367570.1_Intron Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 1976 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity p.V1976M(1) NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 ATTAAAAAGCGTGCAGCCCTC 0.517 6 27 --- --- --- --- WDR43 23160 broad.mit.edu 37 2 29148007 29148007 + Silent SNP T T G TCGA-EJ-5514-01A-01D-1576-08 TCGA-EJ-5514-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx f28f091d-5cd5-447f-b956-3ef7eb305fe2 7b498228-7d17-4b2e-b815-123ebfe1f366 g.chr2:29148007T>G ENST00000407426.3 + 8 1130 c.1074T>G c.(1072-1074)acT>acG p.T358T NM_015131.1 NP_055946.1 Q15061 WDR43_HUMAN WD repeat domain 43 358 nucleolus p.T401T(1) breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1) 20 Acute lymphoblastic leukemia(172;0.155) TTCAGCCTACTATTGAGCGAG 0.413 12 39 --- --- --- --- PTH2R 5746 broad.mit.edu 37 2 209292995 209292995 + Nonsense_Mutation SNP G G T TCGA-EJ-5514-01A-01D-1576-08 TCGA-EJ-5514-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx f28f091d-5cd5-447f-b956-3ef7eb305fe2 7b498228-7d17-4b2e-b815-123ebfe1f366 g.chr2:209292995G>T ENST00000272847.2 + 2 358 c.145G>T c.(145-147)Gaa>Taa p.E49* PTH2R_ENST00000413482.1_3'UTR NM_005048.2 NP_005039.1 P49190 PTH2R_HUMAN parathyroid hormone 2 receptor 49 integral to plasma membrane parathyroid hormone receptor activity p.E49*(1) breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 43 Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836) AGTACAATGTGAACTCAACAT 0.413 3 43 --- --- --- --- IKZF2 22807 broad.mit.edu 37 2 213886796 213886796 + Silent SNP C C G TCGA-EJ-5514-01A-01D-1576-08 TCGA-EJ-5514-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx f28f091d-5cd5-447f-b956-3ef7eb305fe2 7b498228-7d17-4b2e-b815-123ebfe1f366 g.chr2:213886796C>G ENST00000457361.1 - 6 801 c.633G>C c.(631-633)ctG>ctC p.L211L IKZF2_ENST00000342002.2_Silent_p.L217L|IKZF2_ENST00000421754.2_Silent_p.L185L|IKZF2_ENST00000451136.2_Intron|IKZF2_ENST00000374327.4_Silent_p.L66L|IKZF2_ENST00000374319.4_Silent_p.L185L|IKZF2_ENST00000413091.3_Silent_p.L211L|IKZF2_ENST00000434687.1_Silent_p.L211L NM_016260.2 NP_057344.2 Q9UKS7 IKZF2_HUMAN IKAROS family zinc finger 2 (Helios) 211 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.L211L(1) NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Esophageal squamous(248;0.0559)|Renal(323;0.218) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792) TGTGCTCCTCCAGTGAACTGC 0.507 6 122 --- --- --- --- FN1 2335 broad.mit.edu 37 2 216236934 216236934 + Missense_Mutation SNP C C A TCGA-EJ-5514-01A-01D-1576-08 TCGA-EJ-5514-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx f28f091d-5cd5-447f-b956-3ef7eb305fe2 7b498228-7d17-4b2e-b815-123ebfe1f366 g.chr2:216236934C>A ENST00000354785.4 - 40 6781 c.6412G>T c.(6412-6414)Ggg>Tgg p.G2138W FN1_ENST00000323926.6_Missense_Mutation_p.G2138W|FN1_ENST00000336916.4_Missense_Mutation_p.G2047W|FN1_ENST00000357867.4_Intron|FN1_ENST00000346544.3_Intron|FN1_ENST00000357009.2_Intron|FN1_ENST00000359671.1_Missense_Mutation_p.G2047W|FN1_ENST00000421182.1_Missense_Mutation_p.G1932W|FN1_ENST00000432072.2_Intron|FN1_ENST00000345488.5_Intron|FN1_ENST00000446046.1_Missense_Mutation_p.G2022W|FN1_ENST00000356005.4_Missense_Mutation_p.G1957W|FN1_ENST00000443816.1_Missense_Mutation_p.G1957W P02751 FINC_HUMAN fibronectin 1 2047 Fibronectin type-III 16. acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding p.G2047W(1) FN1/ALK(2) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 109 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) ATTTGTTGCCCAACACTGGGT 0.532 4 145 --- --- --- --- IGF2BP2 10644 broad.mit.edu 37 3 185542687 185542687 + Missense_Mutation SNP T T C TCGA-EJ-5514-01A-01D-1576-08 TCGA-EJ-5514-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx f28f091d-5cd5-447f-b956-3ef7eb305fe2 7b498228-7d17-4b2e-b815-123ebfe1f366 g.chr3:185542687T>C ENST00000382199.2 - 1 157 c.62A>G c.(61-63)cAg>cGg p.Q21R IGF2BP2_ENST00000457616.2_Missense_Mutation_p.Q21R|IGF2BP2_ENST00000346192.3_Missense_Mutation_p.Q21R NM_006548.4 NP_006539.3 Q9Y6M1 IF2B2_HUMAN insulin-like growth factor 2 mRNA binding protein 2 21 RRM 1. anatomical structure morphogenesis|negative regulation of translation cytoskeletal part|cytosol|nucleus mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity p.Q21R(1) breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3) 20 all_cancers(143;5.84e-11)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(80;7.41e-21) CCCAAAGAGCTGCCGGAGGTC 0.682 3 14 --- --- --- --- SLC2A9 56606 broad.mit.edu 37 4 9828095 9828095 + Silent SNP T T G TCGA-EJ-5514-01A-01D-1576-08 TCGA-EJ-5514-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx f28f091d-5cd5-447f-b956-3ef7eb305fe2 7b498228-7d17-4b2e-b815-123ebfe1f366 g.chr4:9828095T>G ENST00000506583.1 - 14 1679 c.1462A>C c.(1462-1464)Agg>Cgg p.R488R SLC2A9_ENST00000264784.3_Silent_p.R517R|SLC2A9_ENST00000309065.3_Silent_p.R488R Q9NRM0 GTR9_HUMAN solute carrier family 2 (facilitated glucose transporter), member 9 517 glucose transport|urate metabolic process integral to membrane|plasma membrane sugar:hydrogen symporter activity p.R488R(1)|p.R517R(1) NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1) 35 GCTTTGTTCCTTTTGGAAAAT 0.428 6 316 --- --- --- --- ANKRD17 26057 broad.mit.edu 37 4 74043162 74043162 + Missense_Mutation SNP C C A TCGA-EJ-5514-01A-01D-1576-08 TCGA-EJ-5514-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx f28f091d-5cd5-447f-b956-3ef7eb305fe2 7b498228-7d17-4b2e-b815-123ebfe1f366 g.chr4:74043162C>A ENST00000358602.4 - 2 598 c.482G>T c.(481-483)gGt>gTt p.G161V ANKRD17_ENST00000509867.2_Missense_Mutation_p.G48V|ANKRD17_ENST00000330838.6_Missense_Mutation_p.G161V NM_032217.3 NP_115593.3 O75179 ANR17_HUMAN ankyrin repeat domain 17 161 interspecies interaction between organisms cytoplasm|nucleus RNA binding p.G161V(2) NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3) 96 Breast(15;0.000295) Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) GAGGTCTGCACCATCAGCAGT 0.413 8 231 --- --- --- --- RIOK1 83732 broad.mit.edu 37 6 7405482 7405482 + Splice_Site SNP A A G TCGA-EJ-5514-01A-01D-1576-08 TCGA-EJ-5514-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx f28f091d-5cd5-447f-b956-3ef7eb305fe2 7b498228-7d17-4b2e-b815-123ebfe1f366 g.chr6:7405482A>G ENST00000379834.2 + 12 1604 c.1097A>G c.(1096-1098)gAt>gGt p.D366G NM_031480.2|NM_153005.1 NP_113668.2|NP_694550.1 Q9BRS2 RIOK1_HUMAN RIO kinase 1 366 Protein kinase. ATP binding|protein serine/threonine kinase activity p.D359G(1)|p.D366G(1) cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 19 Ovarian(93;0.0418) CTTCTGACAGATTTCTTTATG 0.363 32 79 --- --- --- --- TRAF3IP2 10758 broad.mit.edu 37 6 111912533 111912533 + Missense_Mutation SNP G G T TCGA-EJ-5514-01A-01D-1576-08 TCGA-EJ-5514-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx f28f091d-5cd5-447f-b956-3ef7eb305fe2 7b498228-7d17-4b2e-b815-123ebfe1f366 g.chr6:111912533G>T ENST00000368761.5 - 2 1235 c.757C>A c.(757-759)Ccc>Acc p.P253T TRAF3IP2-AS1_ENST00000532353.1_RNA|TRAF3IP2_ENST00000359831.4_Missense_Mutation_p.P253T|TRAF3IP2_ENST00000340026.6_Missense_Mutation_p.P262T|TRAF3IP2_ENST00000392556.4_5'UTR NM_001164281.2|NM_147686.3 NP_001157753.1|NP_679211.2 O43734 CIKS_HUMAN TRAF3 interacting protein 2 262 intracellular signal transduction|positive regulation of I-kappaB kinase/NF-kappaB cascade intracellular p.P253T(1)|p.P262T(1) central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1) 18 all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021) OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732) GAAAGATTGGGAGGCAGCATC 0.537 31 48 --- --- --- --- NPC1L1 29881 broad.mit.edu 37 7 44561339 44561339 + Missense_Mutation SNP A A C TCGA-EJ-5514-01A-01D-1576-08 TCGA-EJ-5514-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx f28f091d-5cd5-447f-b956-3ef7eb305fe2 7b498228-7d17-4b2e-b815-123ebfe1f366 g.chr7:44561339A>C ENST00000289547.4 - 12 2980 c.2925T>G c.(2923-2925)aaT>aaG p.N975K NPC1L1_ENST00000546276.1_Missense_Mutation_p.N929K|NPC1L1_ENST00000381160.3_Missense_Mutation_p.N975K NM_013389.2 NP_037521.2 Q9UHC9 NPCL1_HUMAN NPC1-like 1 975 cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane hedgehog receptor activity|protein binding p.N975K(1) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 57 Ezetimibe(DB00973) ACTTGTCCTTATTGGGGCCAG 0.577 3 110 --- --- --- --- SLC25A13 10165 broad.mit.edu 37 7 95750981 95750981 + Silent SNP A A G TCGA-EJ-5514-01A-01D-1576-08 TCGA-EJ-5514-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx f28f091d-5cd5-447f-b956-3ef7eb305fe2 7b498228-7d17-4b2e-b815-123ebfe1f366 g.chr7:95750981A>G ENST00000416240.2 - 17 2020 c.1830T>C c.(1828-1830)atT>atC p.I610I SLC25A13_ENST00000265631.5_Silent_p.I609I|SLC25A13_ENST00000494085.1_5'UTR|SLC25A13_ENST00000542654.1_Silent_p.I501I NM_001160210.1|NM_014251.2 NP_001153682.1|NP_055066.1 Q9UJS0 CMC2_HUMAN solute carrier family 25 (aspartate/glutamate carrier), member 13 609 ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion integral to plasma membrane|mitochondrial inner membrane calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity p.I609I(1) breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4) 42 all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07) STAD - Stomach adenocarcinoma(171;0.194) L-Aspartic Acid(DB00128) CTCCAAAATCAATGTAGAACC 0.413 79 244 --- --- --- --- MUC17 140453 broad.mit.edu 37 7 100684772 100684772 + Missense_Mutation SNP A A G TCGA-EJ-5514-01A-01D-1576-08 TCGA-EJ-5514-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx f28f091d-5cd5-447f-b956-3ef7eb305fe2 7b498228-7d17-4b2e-b815-123ebfe1f366 g.chr7:100684772A>G ENST00000306151.4 + 3 10139 c.10075A>G c.(10075-10077)Acc>Gcc p.T3359A NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 3359 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity p.T3359A(1) NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) TGAGGCTAGCACCCTTTCCAC 0.488 123 436 --- --- --- --- TNFRSF10A 8797 broad.mit.edu 37 8 23056931 23056931 + Missense_Mutation SNP C C A TCGA-EJ-5514-01A-01D-1576-08 TCGA-EJ-5514-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx f28f091d-5cd5-447f-b956-3ef7eb305fe2 7b498228-7d17-4b2e-b815-123ebfe1f366 g.chr8:23056931C>A ENST00000221132.3 - 8 926 c.862G>T c.(862-864)Ggg>Tgg p.G288W NM_003844.3 NP_003835.3 O00220 TR10A_HUMAN tumor necrosis factor receptor superfamily, member 10a 288 activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors caspase activator activity|death receptor activity|TRAIL binding|transcription factor binding p.G288W(2) NS(2)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|skin(1) 16 Prostate(55;0.0421)|Breast(100;0.14) Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646) GCCCCAGGCCCTCGTAGGAGA 0.602 4 90 --- --- --- --- CACNB2 783 broad.mit.edu 37 10 18828621 18828621 + Missense_Mutation SNP G G A TCGA-EJ-5514-01A-01D-1576-08 TCGA-EJ-5514-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx f28f091d-5cd5-447f-b956-3ef7eb305fe2 7b498228-7d17-4b2e-b815-123ebfe1f366 g.chr10:18828621G>A ENST00000396576.2 + 13 2287 c.1786G>A c.(1786-1788)Gag>Aag p.E596K CACNB2_ENST00000352115.6_Missense_Mutation_p.E627K|RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000377319.3_Missense_Mutation_p.E558K|CACNB2_ENST00000324631.7_Missense_Mutation_p.E651K|CACNB2_ENST00000377328.1_Missense_Mutation_p.E401K|CACNB2_ENST00000377331.2_Missense_Mutation_p.E599K|CACNB2_ENST00000282343.8_Missense_Mutation_p.E623K|CACNB2_ENST00000377329.4_Missense_Mutation_p.E597K|CACNB2_ENST00000377315.4_Missense_Mutation_p.E603K NM_000724.3 NP_000715.2 Q08289 CACB2_HUMAN calcium channel, voltage-dependent, beta 2 subunit 651 axon guidance|neuromuscular junction development integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity p.E596K(1)|p.E627K(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2) 31 Magnesium Sulfate(DB00653)|Verapamil(DB00661) TGAGGCTGGGGAGTGGAACAG 0.423 9 120 --- --- --- --- OR5I1 10798 broad.mit.edu 37 11 55703643 55703643 + Missense_Mutation SNP G G T rs144543203 TCGA-EJ-5514-01A-01D-1576-08 TCGA-EJ-5514-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx f28f091d-5cd5-447f-b956-3ef7eb305fe2 7b498228-7d17-4b2e-b815-123ebfe1f366 g.chr11:55703643G>T ENST00000301532.3 - 1 233 c.234C>A c.(232-234)gaC>gaA p.D78E NM_006637.1 NP_006628.1 Q13606 OR5I1_HUMAN olfactory receptor, family 5, subfamily I, member 1 78 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.D78E(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 TGGGAACAATGTCTGAGAAAT 0.383 4 104 --- --- --- --- ROBO4 54538 broad.mit.edu 37 11 124756546 124756546 + Missense_Mutation SNP C C T TCGA-EJ-5514-01A-01D-1576-08 TCGA-EJ-5514-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx f28f091d-5cd5-447f-b956-3ef7eb305fe2 7b498228-7d17-4b2e-b815-123ebfe1f366 g.chr11:124756546C>T ENST00000306534.3 - 16 3093 c.2608G>A c.(2608-2610)Gag>Aag p.E870K RP11-664I21.5_ENST00000524453.1_RNA|ROBO4_ENST00000533054.1_Missense_Mutation_p.E725K NM_019055.5 NP_061928.4 Q8WZ75 ROBO4_HUMAN roundabout, axon guidance receptor, homolog 4 (Drosophila) 870 angiogenesis|cell differentiation integral to membrane receptor activity p.E870K(1) NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3) 76 all_hematologic(175;0.215) Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301) AAGGAGCCCTCGCTGGGGGTG 0.667 14 33 --- --- --- --- ATP2B1 490 broad.mit.edu 37 12 90020309 90020309 + Missense_Mutation SNP T T C TCGA-EJ-5514-01A-01D-1576-08 TCGA-EJ-5514-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx f28f091d-5cd5-447f-b956-3ef7eb305fe2 7b498228-7d17-4b2e-b815-123ebfe1f366 g.chr12:90020309T>C ENST00000428670.3 - 8 1507 c.1051A>G c.(1051-1053)Aaa>Gaa p.K351E ATP2B1_ENST00000348959.3_Missense_Mutation_p.K351E|ATP2B1_ENST00000393164.2_Missense_Mutation_p.K94E|ATP2B1_ENST00000359142.3_Missense_Mutation_p.K351E|ATP2B1_ENST00000261173.2_Missense_Mutation_p.K351E P20020 AT2B1_HUMAN ATPase, Ca++ transporting, plasma membrane 1 351 ATP biosynthetic process|platelet activation integral to plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding p.K351E(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 45 AAATTTGCTTTCTTTTTATCT 0.373 21 190 --- --- --- --- PDS5B 23047 broad.mit.edu 37 13 33252986 33252986 + Missense_Mutation SNP A A G TCGA-EJ-5514-01A-01D-1576-08 TCGA-EJ-5514-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx f28f091d-5cd5-447f-b956-3ef7eb305fe2 7b498228-7d17-4b2e-b815-123ebfe1f366 g.chr13:33252986A>G ENST00000315596.10 + 10 1163 c.977A>G c.(976-978)cAt>cGt p.H326R NM_015032.3 NP_055847.1 Q9NTI5 PDS5B_HUMAN PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae) 326 H -> N (in Ref. 8; AAH39256). cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation chromatin|nucleus ATP binding|DNA binding|identical protein binding p.H326R(1) NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 62 Lung SC(185;0.0367) all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204) AATGATATCCATGTACCAATC 0.333 17 84 --- --- --- --- CHD8 57680 broad.mit.edu 37 14 21871248 21871248 + Silent SNP A A G TCGA-EJ-5514-01A-01D-1576-08 TCGA-EJ-5514-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx f28f091d-5cd5-447f-b956-3ef7eb305fe2 7b498228-7d17-4b2e-b815-123ebfe1f366 g.chr14:21871248A>G ENST00000399982.2 - 17 3706 c.3642T>C c.(3640-3642)ctT>ctC p.L1214L CHD8_ENST00000430710.3_Silent_p.L935L|CHD8_ENST00000557364.1_Silent_p.L1214L|CHD8_ENST00000555962.1_Intron NM_001170629.1 NP_001164100.1 Q9HCK8 CHD8_HUMAN chromodomain helicase DNA binding protein 8 1214 Helicase C-terminal. ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent MLL1 complex ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding p.L1214L(1) NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 85 all_cancers(95;0.00121) Epithelial(56;2.55e-06)|all cancers(55;1.73e-05) GBM - Glioblastoma multiforme(265;0.00424) GATTAATACCAAGTCCACCAG 0.483 3 89 --- --- --- --- OSGIN1 29948 broad.mit.edu 37 16 83998851 83998851 + Missense_Mutation SNP T T C TCGA-EJ-5514-01A-01D-1576-08 TCGA-EJ-5514-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx f28f091d-5cd5-447f-b956-3ef7eb305fe2 7b498228-7d17-4b2e-b815-123ebfe1f366 g.chr16:83998851T>C ENST00000343939.2 + 7 1305 c.922T>C c.(922-924)Ttc>Ctc p.F308L OSGIN1_ENST00000361711.3_Missense_Mutation_p.F225L|OSGIN1_ENST00000393306.1_Missense_Mutation_p.F225L Q9UJX0 OSGI1_HUMAN oxidative stress induced growth inhibitor 1 308 cell differentiation|multicellular organismal development|negative regulation of cell growth growth factor activity p.F308L(1) autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1) 12 GGTGAGCGGCTTCCTGACCAG 0.692 21 69 --- --- --- --- FXR2 9513 broad.mit.edu 37 17 7495581 7495581 + Silent SNP T T C TCGA-EJ-5514-01A-01D-1576-08 TCGA-EJ-5514-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx f28f091d-5cd5-447f-b956-3ef7eb305fe2 7b498228-7d17-4b2e-b815-123ebfe1f366 g.chr17:7495581T>C ENST00000250113.7 - 16 2251 c.1917A>G c.(1915-1917)tcA>tcG p.S639S MPDU1_ENST00000423172.2_Intron|FXR2_ENST00000573057.1_5'UTR NM_004860.3 NP_004851.2 P51116 FXR2_HUMAN fragile X mental retardation, autosomal homolog 2 639 cytosolic large ribosomal subunit protein binding|RNA binding p.S639S(1) NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1) 26 READ - Rectum adenocarcinoma(115;0.17) CCTTCTGTCCTGAAAGAGAGT 0.507 3 144 --- --- --- --- STAT5B 6777 broad.mit.edu 37 17 40362212 40362212 + Missense_Mutation SNP G G A TCGA-EJ-5514-01A-01D-1576-08 TCGA-EJ-5514-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx f28f091d-5cd5-447f-b956-3ef7eb305fe2 7b498228-7d17-4b2e-b815-123ebfe1f366 g.chr17:40362212G>A ENST00000293328.3 - 15 2051 c.1883C>T c.(1882-1884)aCc>aTc p.T628I NM_012448.3 NP_036580.2 P51692 STA5B_HUMAN signal transducer and activator of transcription 5B 628 SH2. 2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process cytosol|nucleoplasm calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity p.T628I(1) breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.135) Dasatinib(DB01254) CCAAGCAATGGTGATGCCGCC 0.428 3 86 --- --- --- --- GIPC3 126326 broad.mit.edu 37 19 3589510 3589510 + Missense_Mutation SNP C C A TCGA-EJ-5514-01A-01D-1576-08 TCGA-EJ-5514-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx f28f091d-5cd5-447f-b956-3ef7eb305fe2 7b498228-7d17-4b2e-b815-123ebfe1f366 g.chr19:3589510C>A ENST00000322315.5 + 4 707 c.662C>A c.(661-663)aCc>aAc p.T221N NM_133261.2 NP_573568.1 Q8TF64 GIPC3_HUMAN GIPC PDZ domain containing family, member 3 221 p.T221N(1) breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 10 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18) GGGAGGGAGACCCTGCGGCTT 0.612 10 81 --- --- --- --- ZNF181 339318 broad.mit.edu 37 19 35232275 35232275 + Missense_Mutation SNP T T C TCGA-EJ-5514-01A-01D-1576-08 TCGA-EJ-5514-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx f28f091d-5cd5-447f-b956-3ef7eb305fe2 7b498228-7d17-4b2e-b815-123ebfe1f366 g.chr19:35232275T>C ENST00000392232.3 + 6 1289 c.1121T>C c.(1120-1122)tTt>tCt p.F374S ZNF181_ENST00000459757.2_Missense_Mutation_p.F329S|ZNF181_ENST00000492450.1_Missense_Mutation_p.F330S Q2M3W8 ZN181_HUMAN zinc finger protein 181 330 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.F266S(1) endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1) 22 all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.138) GGAAAGTCTTTTAGTCGTGTG 0.398 3 168 --- --- --- --- ZNFX1 57169 broad.mit.edu 37 20 47864642 47864642 + Missense_Mutation SNP A A G TCGA-EJ-5514-01A-01D-1576-08 TCGA-EJ-5514-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx f28f091d-5cd5-447f-b956-3ef7eb305fe2 7b498228-7d17-4b2e-b815-123ebfe1f366 g.chr20:47864642A>G ENST00000396105.1 - 14 5165 c.4919T>C c.(4918-4920)cTa>cCa p.L1640P ZNFX1_ENST00000371754.4_Intron|ZNFX1_ENST00000371752.1_Missense_Mutation_p.L1640P NM_021035.2 NP_066363.1 Q9P2E3 ZNFX1_HUMAN zinc finger, NFX1-type containing 1 1640 metal ion binding p.L1640P(2) cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1) 60 BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) AATCTCTTCTAGCCGCTGTTT 0.507 42 82 --- --- --- --- SHOX 6473 broad.mit.edu 37 X 601572 601572 + Missense_Mutation SNP G G A TCGA-EJ-5514-01A-01D-1576-08 TCGA-EJ-5514-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx f28f091d-5cd5-447f-b956-3ef7eb305fe2 7b498228-7d17-4b2e-b815-123ebfe1f366 g.chrX:601572G>A ENST00000381578.1 + 4 1194 c.503G>A c.(502-504)cGg>cAg p.R168Q SHOX_ENST00000334060.3_Missense_Mutation_p.R168Q|SHOX_ENST00000554971.1_Missense_Mutation_p.R168Q|SHOX_ENST00000381575.1_Missense_Mutation_p.R168Q NM_000451.3 NP_000442.1 O15266 SHOX_HUMAN short stature homeobox 168 R -> W (in LMD). skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.R168Q(1) endometrium(3)|lung(9)|prostate(1) 13 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) TTCCAGAACCGGAGAGCCAAG 0.592 45 137 --- --- --- --- MID2 11043 broad.mit.edu 37 X 107159358 107159358 + Splice_Site SNP A A G TCGA-EJ-5514-01A-01D-1576-08 TCGA-EJ-5514-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx f28f091d-5cd5-447f-b956-3ef7eb305fe2 7b498228-7d17-4b2e-b815-123ebfe1f366 g.chrX:107159358A>G ENST00000262843.6 + 6 1748 c.1200A>G c.(1198-1200)acA>acG p.T400T RP6-191P20.4_ENST00000430140.1_RNA|MID2_ENST00000443968.2_Splice_Site_p.T400T NM_012216.3|NM_052817.2 NP_036348.2|NP_438112.2 Q9UJV3 TRIM1_HUMAN midline 2 400 Fibronectin type-III. centrosome|microtubule ligase activity|zinc ion binding p.T380T(1) breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2) 19 ATTATTTAACAGGTGTGAAAA 0.274 3 196 --- --- --- --- SPANXN1 494118 broad.mit.edu 37 X 144337274 144337274 + Silent SNP G G T TCGA-EJ-5514-01A-01D-1576-08 TCGA-EJ-5514-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx f28f091d-5cd5-447f-b956-3ef7eb305fe2 7b498228-7d17-4b2e-b815-123ebfe1f366 g.chrX:144337274G>T ENST00000370493.3 + 2 918 c.159G>T c.(157-159)gcG>gcT p.A53A NM_001009614.2 NP_001009614.1 Q5VSR9 SPXN1_HUMAN SPANX family, member N1 53 p.A53A(4) endometrium(2)|kidney(2)|lung(8)|prostate(1)|urinary_tract(1) 14 Acute lymphoblastic leukemia(192;6.56e-05) CAGTATTAGCGTTTTGCTACA 0.433 3 123 --- --- --- --- USP31 57478 broad.mit.edu 37 16 23080918 23080918 + Frame_Shift_Del DEL T T - TCGA-EJ-5514-01A-01D-1576-08 TCGA-EJ-5514-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx f28f091d-5cd5-447f-b956-3ef7eb305fe2 7b498228-7d17-4b2e-b815-123ebfe1f366 g.chr16:23080918delT ENST00000219689.7 - 16 2507 c.2508delA c.(2506-2508)ccafs p.P836fs USP31_ENST00000567975.1_Frame_Shift_Del_p.P129fs NM_020718.3 NP_065769.3 Q70CQ4 UBP31_HUMAN ubiquitin specific peptidase 31 836 Ser-rich. ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 57 GBM - Glioblastoma multiforme(48;0.0187) TTCTCACAAATGGTCGAGTTG 0.443 12 49 --- --- --- ---