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 ARID1A 8289 broad.mit.edu 37 1 27101342 27101342 + Nonsense_Mutation SNP G G T TCGA-DU-6410-01A-11D-1893-08 TCGA-DU-6410-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx f978b356-f9ee-415d-b39c-a8ef1b221734 2b140fc8-fb90-4bf3-93e2-ce81a83a703a g.chr1:27101342G>T ENST00000324856.7 + 18 4995 c.4624G>T c.(4624-4626)Gaa>Taa p.E1542* ARID1A_ENST00000374152.2_Nonsense_Mutation_p.E1159*|ARID1A_ENST00000457599.2_Intron|ARID1A_ENST00000540690.1_Intron NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 1542 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding p.E1542*(1) ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) GGCCAACCACGAAGGCTCGTG 0.642000 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 42 4 1.62957e-23 1.81063e-23 0.104719 1 0 EHMT2 10919 broad.mit.edu 37 6 31856769 31856769 + Missense_Mutation SNP C C T TCGA-DU-6410-01A-11D-1893-08 TCGA-DU-6410-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx f978b356-f9ee-415d-b39c-a8ef1b221734 2b140fc8-fb90-4bf3-93e2-ce81a83a703a g.chr6:31856769C>T ENST00000395728.3 - 9 1363 c.1364G>A c.(1363-1365)gGg>gAg p.G455E EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375528.4_Intron|EHMT2_ENST00000375530.4_Intron|EHMT2_ENST00000375537.4_Missense_Mutation_p.G398E Q96KQ7 EHMT2_HUMAN euchromatic histone-lysine N-methyltransferase 2 398 DNA methylation|peptidyl-lysine dimethylation chromosome|nucleus histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1) 21 GGAGAGGGTCCCCTCGCTGGG 0.632000 14 11 0 0 0.033300 0 0 EPHA3 2042 broad.mit.edu 37 3 89498454 89498454 + Missense_Mutation SNP G G T TCGA-DU-6410-01A-11D-1893-08 TCGA-DU-6410-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx f978b356-f9ee-415d-b39c-a8ef1b221734 2b140fc8-fb90-4bf3-93e2-ce81a83a703a g.chr3:89498454G>T ENST00000336596.2 + 14 2651 c.2426G>T c.(2425-2427)aGt>aTt p.S809I EPHA3_ENST00000494014.1_Missense_Mutation_p.S809I NM_005233.5 NP_005224.2 P29320 EPHA3_HUMAN EPH receptor A3 809 Protein kinase. extracellular region|integral to plasma membrane ATP binding NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5) 139 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) GATGTATGGAGTTATGGGATT 0.448000 TSP Lung(6;0.00050) 53 66 3.73128e-16 4.08109e-16 0.139131 1 0 ENTPD6 0 broad.mit.edu 37 20 25201921 25201921 + Missense_Mutation SNP G G C TCGA-DU-6410-01A-11D-1893-08 TCGA-DU-6410-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx f978b356-f9ee-415d-b39c-a8ef1b221734 2b140fc8-fb90-4bf3-93e2-ce81a83a703a g.chr20:25201921G>C ENST00000360031.2 + 11 1176 c.994G>C c.(994-996)Gag>Cag p.E332Q ENTPD6_ENST00000376652.4_Missense_Mutation_p.E333Q|ENTPD6_ENST00000433259.2_Intron|ENTPD6_ENST00000354989.5_Missense_Mutation_p.E316Q NM_001247.2 NP_001238.2 O75354 ENTP6_HUMAN ectonucleoside triphosphate diphosphohydrolase 6 (putative) 333 Golgi membrane|integral to membrane nucleoside-diphosphatase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1) 27 TTTCAAAGGAGAGTGGGAACA 0.517000 5 105 0 0 0.029380 0 0 CFTR 1080 broad.mit.edu 37 7 117304899 117304899 + Missense_Mutation SNP C C T rs115147093 by1000genomes TCGA-DU-6410-01A-11D-1893-08 TCGA-DU-6410-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx f978b356-f9ee-415d-b39c-a8ef1b221734 2b140fc8-fb90-4bf3-93e2-ce81a83a703a g.chr7:117304899C>T ENST00000003084.6 + 25 4253 c.4121C>T c.(4120-4122)gCt>gTt p.A1374V CFTR_ENST00000454343.1_Missense_Mutation_p.A1313V NM_000492.3 NP_000483.3 P13569 CFTR_HUMAN cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) 1374 ABC transporter 2. respiratory gaseous exchange apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9) 69 Lung NSC(10;0.00148)|all_lung(10;0.00171) STAD - Stomach adenocarcinoma(10;0.000534) Bumetanide(DB00887)|Glibenclamide(DB01016) GAACCCAGTGCTCATTTGGAT 0.453000 Cystic Fibrosis 63 215 0 0 0.139131 0 0 MUC4 4585 broad.mit.edu 37 3 195515511 195515511 + Silent SNP G G A TCGA-DU-6410-01A-11D-1893-08 TCGA-DU-6410-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx f978b356-f9ee-415d-b39c-a8ef1b221734 2b140fc8-fb90-4bf3-93e2-ce81a83a703a g.chr3:195515511G>A ENST00000463781.3 - 2 3399 c.2940C>T c.(2938-2940)acC>acT p.T980T MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Silent_p.T980T NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 985 Ser-rich. cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) AGGAAGCGTAGGTGACAGGAA 0.572000 9 24 0 0 0.080935 0 0 UBE4B 10277 broad.mit.edu 37 1 10182079 10182079 + Missense_Mutation SNP G G A TCGA-DU-6410-01A-11D-1893-08 TCGA-DU-6410-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx f978b356-f9ee-415d-b39c-a8ef1b221734 2b140fc8-fb90-4bf3-93e2-ce81a83a703a g.chr1:10182079G>A ENST00000377157.3 + 9 1825 c.764G>A c.(763-765)gGc>gAc p.G255D UBE4B_ENST00000475795.1_3'UTR|UBE4B_ENST00000343090.6_Missense_Mutation_p.G500D|UBE4B_ENST00000253251.8_Missense_Mutation_p.G371D NM_006048.4 NP_006039.2 O95155 UBE4B_HUMAN ubiquitination factor E4B 500 apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV cytoplasm|ubiquitin ligase complex enzyme binding NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 48 all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046) CTCCCATATGGCTTCATTCAG 0.493000 12 66 0 0 0.105934 0 0 AC024560.3 0 broad.mit.edu 37 3 197348634 197348634 + RNA SNP G G C TCGA-DU-6410-01A-11D-1893-08 TCGA-DU-6410-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx f978b356-f9ee-415d-b39c-a8ef1b221734 2b140fc8-fb90-4bf3-93e2-ce81a83a703a g.chr3:197348634G>C ENST00000418868.1 - 0 625 NR_003266.2 CAGCAGCACCGATGGGCCTGC 0.542000 3 73 0 0 0.021553 0 0 CDC20 991 broad.mit.edu 37 1 43824985 43824985 + Silent SNP G G A TCGA-DU-6410-01A-11D-1893-08 TCGA-DU-6410-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx f978b356-f9ee-415d-b39c-a8ef1b221734 2b140fc8-fb90-4bf3-93e2-ce81a83a703a g.chr1:43824985G>A ENST00000372462.1 + 1 302 c.99G>A c.(97-99)aaG>aaA p.K33K CDC20_ENST00000310955.6_Silent_p.K33K Q12834 CDC20_HUMAN cell division cycle 20 33 activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle cytosol|nucleoplasm|spindle enzyme binding|protein C-terminus binding endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1) 15 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) GCAAAGCCAAGGAAGCCGCAG 0.677000 4 37 0 0 0.014758 0 0 KRT25 147183 broad.mit.edu 37 17 38906790 38906790 + Silent SNP C C T TCGA-DU-6410-01A-11D-1893-08 TCGA-DU-6410-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx f978b356-f9ee-415d-b39c-a8ef1b221734 2b140fc8-fb90-4bf3-93e2-ce81a83a703a g.chr17:38906790C>T ENST00000312150.4 - 6 1077 c.1017G>A c.(1015-1017)gcG>gcA p.A339A NM_181534.3 NP_853512.1 Q7Z3Z0 K1C25_HUMAN keratin 25 339 Coil 2.|Rod. cytoplasm|intermediate filament structural molecule activity p.A339A(2) endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4) 16 Breast(137;0.00526) CCTGGATCTGCGCCAGCTGCG 0.562000 113 148 0 0 0.139131 0 0 EXTL1 2134 broad.mit.edu 37 1 26361731 26361731 + Missense_Mutation SNP T T C TCGA-DU-6410-01A-11D-1893-08 TCGA-DU-6410-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx f978b356-f9ee-415d-b39c-a8ef1b221734 2b140fc8-fb90-4bf3-93e2-ce81a83a703a g.chr1:26361731T>C ENST00000374280.3 + 11 2791 c.1924T>C c.(1924-1926)Ttc>Ctc p.F642L NM_004455.2 NP_004446.2 Q92935 EXTL1_HUMAN exostosin-like glycosyltransferase 1 642 skeletal system development integral to membrane|intrinsic to endoplasmic reticulum membrane glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1) 23 Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649) AGCGGCAGCGTTCGGCCACAT 0.642000 45 7 0 0 0.139131 0 0 USP9X 8239 broad.mit.edu 37 X 41057788 41057788 + Missense_Mutation SNP T T C TCGA-DU-6410-01A-11D-1893-08 TCGA-DU-6410-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx f978b356-f9ee-415d-b39c-a8ef1b221734 2b140fc8-fb90-4bf3-93e2-ce81a83a703a g.chrX:41057788T>C ENST00000324545.7 + 30 5021 c.4388T>C c.(4387-4389)aTt>aCt p.I1463T USP9X_ENST00000378308.2_Missense_Mutation_p.I1463T NM_001039590.2|NM_001039591.2 NP_001034679.2|NP_001034680.2 Q93008 USP9X_HUMAN ubiquitin specific peptidase 9, X-linked 1463 BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process cytoplasm co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 87 TAGGAATTAATTGATGATTTC 0.318000 21 2 0 0 0.062417 0 0 INTS3 65123 broad.mit.edu 37 1 153745465 153745465 + Missense_Mutation SNP C C T TCGA-DU-6410-01A-11D-1893-08 TCGA-DU-6410-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx f978b356-f9ee-415d-b39c-a8ef1b221734 2b140fc8-fb90-4bf3-93e2-ce81a83a703a g.chr1:153745465C>T ENST00000456435.1 + 28 3725 c.2539C>T c.(2539-2541)Cgg>Tgg p.R847W INTS3_ENST00000512605.1_Missense_Mutation_p.R847W|INTS3_ENST00000476843.1_3'UTR|INTS3_ENST00000318967.2_Missense_Mutation_p.R987W|INTS3_ENST00000435409.2_Missense_Mutation_p.R987W Q68E01 INT3_HUMAN integrator complex subunit 3 988 DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing integrator complex|SOSS complex protein binding breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) ACCCAAGAGCCGGCGAAAAGC 0.557000 59 92 0 0 0.139131 0 0 OR4K17 390436 broad.mit.edu 37 14 20586367 20586367 + Missense_Mutation SNP C C T TCGA-DU-6410-01A-11D-1893-08 TCGA-DU-6410-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx f978b356-f9ee-415d-b39c-a8ef1b221734 2b140fc8-fb90-4bf3-93e2-ce81a83a703a g.chr14:20586367C>T ENST00000315543.4 + 1 802 c.802C>T c.(802-804)Cgt>Tgt p.R268C NM_001004715.1 NP_001004715.1 Q8NGC6 OR4KH_HUMAN olfactory receptor, family 4, subfamily K, member 17 240 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3) 21 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.77e-06) GBM - Glioblastoma multiforme(265;0.0144) ATCTAAAGCCCGTTCCACTTT 0.438000 48 53 0 0 0.139131 0 0 IGLV3-25 0 broad.mit.edu 37 22 23029703 23029703 + RNA SNP C C T TCGA-DU-6410-01A-11D-1893-08 TCGA-DU-6410-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx f978b356-f9ee-415d-b39c-a8ef1b221734 2b140fc8-fb90-4bf3-93e2-ce81a83a703a g.chr22:23029703C>T ENST00000390305.2 + 0 348 GAAGATGAGGCTGACTATTAC 0.527000 45 50 0 0 0.131918 0 0 PSMD9 5715 broad.mit.edu 37 12 122337663 122337663 + Missense_Mutation SNP G G A rs145938110 byFrequency TCGA-DU-6410-01A-11D-1893-08 TCGA-DU-6410-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx f978b356-f9ee-415d-b39c-a8ef1b221734 2b140fc8-fb90-4bf3-93e2-ce81a83a703a g.chr12:122337663G>A ENST00000544724.1 + 1 2487 c.98G>A c.(97-99)cGc>cAc p.R33H PSMD9_ENST00000340175.5_Missense_Mutation_p.R122H|PSMD9_ENST00000261817.2_Missense_Mutation_p.R122H|PSMD9_ENST00000541212.1_Missense_Mutation_p.R122H|RP11-87C12.2_ENST00000542602.1_Intron O00233 PSMD9_HUMAN proteasome (prosome, macropain) 26S subunit, non-ATPase, 9 122 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of insulin secretion|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of insulin secretion|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|proteasome regulatory particle assembly|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction nucleus|proteasome regulatory particle bHLH transcription factor binding|transcription coactivator activity endometrium(1)|large_intestine(1)|lung(1) 3 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;0.000117)|Epithelial(86;0.000415)|BRCA - Breast invasive adenocarcinoma(302;0.231) GCCATGAGCCGCAAACTGGGT 0.652000 4 79 0 0 0.014758 0 0 SCYL1 57410 broad.mit.edu 37 11 65303494 65303494 + Missense_Mutation SNP C C T TCGA-DU-6410-01A-11D-1893-08 TCGA-DU-6410-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx f978b356-f9ee-415d-b39c-a8ef1b221734 2b140fc8-fb90-4bf3-93e2-ce81a83a703a g.chr11:65303494C>T ENST00000524944.1 + 11 1490 c.1457C>T c.(1456-1458)gCg>gTg p.A486V SCYL1_ENST00000279270.6_Missense_Mutation_p.A486V|SCYL1_ENST00000270176.5_Missense_Mutation_p.A486V|SCYL1_ENST00000420247.2_Missense_Mutation_p.A486V|SCYL1_ENST00000533862.1_Missense_Mutation_p.A486V|SCYL1_ENST00000527630.1_Missense_Mutation_p.A486V|SCYL1_ENST00000527009.1_Missense_Mutation_p.A343V|SCYL1_ENST00000525364.1_Missense_Mutation_p.A486V Q96KG9 NTKL_HUMAN SCY1-like 1 (S. cerevisiae) 486 regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent cis-Golgi network|COPI vesicle coat|ER-Golgi intermediate compartment|microtubule organizing center|nucleus ATP binding|DNA binding|protein tyrosine kinase activity ovary(1)|skin(1) 2 TCCCGGGTTGCGGGTGTCCTG 0.597000 28 51 0 0 0.125774 0 0 EDAR 10913 broad.mit.edu 37 2 109539871 109539871 + Missense_Mutation SNP C C T TCGA-DU-6410-01A-11D-1893-08 TCGA-DU-6410-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx f978b356-f9ee-415d-b39c-a8ef1b221734 2b140fc8-fb90-4bf3-93e2-ce81a83a703a g.chr2:109539871C>T ENST00000409271.1 - 6 838 c.395G>A c.(394-396)gGc>gAc p.G132D EDAR_ENST00000258443.2_Missense_Mutation_p.G132D|EDAR_ENST00000376651.1_Missense_Mutation_p.G132D Q9UNE0 EDAR_HUMAN ectodysplasin A receptor 132 apoptosis|cell differentiation integral to membrane protein binding|transmembrane receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1) 16 GCAGACCATGCCATAGATGTT 0.542000 52 74 0 0 0.139131 0 0 MARK2 2011 broad.mit.edu 37 11 63667348 63667348 + Silent SNP A A G TCGA-DU-6410-01A-11D-1893-08 TCGA-DU-6410-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx f978b356-f9ee-415d-b39c-a8ef1b221734 2b140fc8-fb90-4bf3-93e2-ce81a83a703a g.chr11:63667348A>G ENST00000402010.2 + 8 1113 c.534A>G c.(532-534)gcA>gcG p.A178A MARK2_ENST00000513765.2_Silent_p.A145A|MARK2_ENST00000377809.4_Silent_p.A178A|MARK2_ENST00000509502.2_Silent_p.A145A|MARK2_ENST00000502399.3_Silent_p.A178A|MARK2_ENST00000508192.1_Silent_p.A178A|MARK2_ENST00000425897.2_Silent_p.A145A|MARK2_ENST00000408948.3_Silent_p.A145A|MARK2_ENST00000315032.8_Silent_p.A178A|MARK2_ENST00000350490.7_Silent_p.A178A|MARK2_ENST00000377810.3_Silent_p.A145A|MARK2_ENST00000413835.2_Silent_p.A178A|MARK2_ENST00000361128.5_Silent_p.A178A NM_001039469.2 NP_001034558.2 Q7KZI7 MARK2_HUMAN MAP/microtubule affinity-regulating kinase 2 178 Protein kinase. cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress plasma membrane ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 CCTCCCAGGCAGAAAACCTGC 0.498000 153 165 0 0 0.139131 0 0 RBPJ 3516 broad.mit.edu 37 4 26422326 26422326 + Nonsense_Mutation SNP C C T TCGA-DU-6410-01A-11D-1893-08 TCGA-DU-6410-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx f978b356-f9ee-415d-b39c-a8ef1b221734 2b140fc8-fb90-4bf3-93e2-ce81a83a703a g.chr4:26422326C>T ENST00000342320.4 + 5 648 c.472C>T c.(472-474)Cag>Tag p.Q158* RBPJ_ENST00000361572.6_Nonsense_Mutation_p.Q172*|RBPJ_ENST00000342295.1_Nonsense_Mutation_p.Q172*|RBPJ_ENST00000504907.1_Nonsense_Mutation_p.Q158*|RBPJ_ENST00000348160.4_Nonsense_Mutation_p.Q159*|RBPJ_ENST00000507561.1_Nonsense_Mutation_p.Q137*|RBPJ_ENST00000345843.3_Nonsense_Mutation_p.Q157*|RBPJ_ENST00000355476.3_Nonsense_Mutation_p.Q158* Q06330 SUH_HUMAN recombination signal binding protein for immunoglobulin kappa J region 172 DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target cytoplasm|nucleolus|nucleoplasm DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1) 15 Breast(46;0.0503) CAAAAAGAAGCAGTCATTGAA 0.363000 24 3 0 0 0.091800 0 0 ABCC2 1244 broad.mit.edu 37 10 101594197 101594197 + Silent SNP C C T TCGA-DU-6410-01A-11D-1893-08 TCGA-DU-6410-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx f978b356-f9ee-415d-b39c-a8ef1b221734 2b140fc8-fb90-4bf3-93e2-ce81a83a703a g.chr10:101594197C>T ENST00000370449.4 + 24 3432 c.3319C>T c.(3319-3321)Ctg>Ttg p.L1107L NM_000392.3 NP_000383.1 Q92887 MRP2_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 2 1107 ABC transmembrane type-1 2. apical plasma membrane|integral to plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 67 Colorectal(252;0.234) Epithelial(162;2.77e-10)|all cancers(201;2.47e-08) Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) TACATGCTTCCTGGGGATAAT 0.478000 5 152 0 0 0.014758 0 0 ZNF71 58491 broad.mit.edu 37 19 57133636 57133636 + Silent SNP G G A TCGA-DU-6410-01A-11D-1893-08 TCGA-DU-6410-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx f978b356-f9ee-415d-b39c-a8ef1b221734 2b140fc8-fb90-4bf3-93e2-ce81a83a703a g.chr19:57133636G>A ENST00000328070.6 + 3 1215 c.981G>A c.(979-981)gtG>gtA p.V327V NM_021216.4 NP_067039.1 Q9NQZ8 ZNF71_HUMAN zinc finger protein 71 327 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 26 GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18) AGCCCTACGTGTGCGGCGAGT 0.642000 27 41 0 0 0.144211 0 0 KCNN3 3782 broad.mit.edu 37 1 154842348 154842348 + Silent SNP C C T TCGA-DU-6410-01A-11D-1893-08 TCGA-DU-6410-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx f978b356-f9ee-415d-b39c-a8ef1b221734 2b140fc8-fb90-4bf3-93e2-ce81a83a703a g.chr1:154842348C>T ENST00000271915.3 - 1 408 c.93G>A c.(91-93)caG>caA p.Q31Q NM_002249.5 NP_002240.3 Q9UGI6 KCNN3_HUMAN potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 31 Poly-Gln. integral to membrane calmodulin binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1) 28 all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00819) gctgctgctgctgctgctCAT 0.672000 3 6 0 0 0.115264 0 0 HK1 3098 broad.mit.edu 37 10 71136763 71136763 + Missense_Mutation SNP G G A TCGA-DU-6410-01A-11D-1893-08 TCGA-DU-6410-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx f978b356-f9ee-415d-b39c-a8ef1b221734 2b140fc8-fb90-4bf3-93e2-ce81a83a703a g.chr10:71136763G>A ENST00000448642.2 + 13 1443 c.1054G>A c.(1054-1056)Ggc>Agc p.G352S HK1_ENST00000494253.1_3'UTR|HK1_ENST00000360289.2_Missense_Mutation_p.G305S|HK1_ENST00000298649.3_Missense_Mutation_p.G316S|HK1_ENST00000359426.6_Missense_Mutation_p.G317S|HK1_ENST00000404387.2_Missense_Mutation_p.G321S P19367 HXK1_HUMAN hexokinase 1 317 Regulatory. glucose transport|glycolysis|transmembrane transport cytosol|mitochondrial outer membrane|nucleus ATP binding|glucokinase activity breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2) 35 GGCCAAGGAGGGCCTCTTATT 0.537000 65 74 0 0 0.139131 0 0 KIAA1244 57221 broad.mit.edu 37 6 138657616 138657616 + Missense_Mutation SNP T T C TCGA-DU-6410-01A-11D-1893-08 TCGA-DU-6410-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx f978b356-f9ee-415d-b39c-a8ef1b221734 2b140fc8-fb90-4bf3-93e2-ce81a83a703a g.chr6:138657616T>C ENST00000251691.4 + 34 6693 c.6527T>C c.(6526-6528)aTt>aCt p.I2176T NM_020340.4 NP_065073.3 Q5TH69 BIG3_HUMAN KIAA1244 2176 regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2) 44 Breast(32;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259) TATGACATCATTGTGTAGCCG 0.552000 39 42 0 0 0.069456 0 0 RNF213 57674 broad.mit.edu 37 17 78320934 78320934 + Silent SNP G G A rs141391616 TCGA-DU-6410-01A-11D-1893-08 TCGA-DU-6410-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx f978b356-f9ee-415d-b39c-a8ef1b221734 2b140fc8-fb90-4bf3-93e2-ce81a83a703a g.chr17:78320934G>A ENST00000582970.1 + 29 8942 c.8799G>A c.(8797-8799)gcG>gcA p.A2933A RNF213_ENST00000508628.2_Silent_p.A2982A|RNF213_ENST00000336301.6_Silent_p.A1006A NM_001256071.1 NP_001243000.1 Q9HCF4 ALO17_HUMAN ring finger protein 213 0 p.A1006A(1)|p.A2982A(1) NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 130 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) GGTACTTTGCGTCCTTTGCCA 0.547000 28 23 0 0 0.125774 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-DU-6410-01A-11D-1893-08 TCGA-DU-6410-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx f978b356-f9ee-415d-b39c-a8ef1b221734 2b140fc8-fb90-4bf3-93e2-ce81a83a703a g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) ATAAGCATGACGACCTATGAT 0.393000 Mis gliobastoma 25 40 0 0 0.116897 0 0 ANO5 203859 broad.mit.edu 37 11 22271916 22271916 + Splice_Site SNP A A T TCGA-DU-6410-01A-11D-1893-08 TCGA-DU-6410-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx f978b356-f9ee-415d-b39c-a8ef1b221734 2b140fc8-fb90-4bf3-93e2-ce81a83a703a g.chr11:22271916A>T ENST00000324559.8 + 10 1329 c.1013_splice c.e10+1 p.S338_splice NM_001142649.1|NM_213599.2 NP_001136121.1|NP_998764.1 Q75V66 ANO5_HUMAN anoctamin 5 338 chloride channel complex|endoplasmic reticulum membrane chloride channel activity breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 TAACACAAGCAGGTAAGTGCA 0.363000 18 30 0 0 0.043863 0 0 FMN2 56776 broad.mit.edu 37 1 240371098 240371098 + Missense_Mutation SNP G G A TCGA-DU-6410-01A-11D-1893-08 TCGA-DU-6410-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx f978b356-f9ee-415d-b39c-a8ef1b221734 2b140fc8-fb90-4bf3-93e2-ce81a83a703a g.chr1:240371098G>A ENST00000319653.9 + 5 3216 c.2986G>A c.(2986-2988)Ggc>Agc p.G996S NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 996 FH1.|Pro-rich. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) TCCCGGAGCGGGCATACCCCC 0.706000 3 40 0 0 0.115264 0 0 ZFHX3 463 broad.mit.edu 37 16 72827287 72827287 + Silent SNP T T C TCGA-DU-6410-01A-11D-1893-08 TCGA-DU-6410-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx f978b356-f9ee-415d-b39c-a8ef1b221734 2b140fc8-fb90-4bf3-93e2-ce81a83a703a g.chr16:72827287T>C ENST00000268489.5 - 9 9966 c.9294A>G c.(9292-9294)caA>caG p.Q3098Q ZFHX3_ENST00000397992.5_Silent_p.Q2184Q NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 3098 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) CAAACATCCCTTGCTGCTGAG 0.547000 6 225 0 0 0.029380 0 0 APBB1IP 54518 broad.mit.edu 37 10 26802585 26802585 + Missense_Mutation SNP C C T TCGA-DU-6410-01A-11D-1893-08 TCGA-DU-6410-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx f978b356-f9ee-415d-b39c-a8ef1b221734 2b140fc8-fb90-4bf3-93e2-ce81a83a703a g.chr10:26802585C>T ENST00000376236.4 + 8 1264 c.809C>T c.(808-810)cCc>cTc p.P270L NM_019043.3 NP_061916.3 Q7Z5R6 AB1IP_HUMAN amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein 270 blood coagulation|signal transduction cytoskeleton|cytosol|focal adhesion|lamellipodium central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1) 45 TTTAAAAACCCCCAGGTAAGA 0.348000 60 79 0 0 0.139131 0 0 NCOA6 23054 broad.mit.edu 37 20 33345744 33345744 + Silent SNP C C T TCGA-DU-6410-01A-11D-1893-08 TCGA-DU-6410-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx f978b356-f9ee-415d-b39c-a8ef1b221734 2b140fc8-fb90-4bf3-93e2-ce81a83a703a g.chr20:33345744C>T ENST00000374796.2 - 8 3377 c.807G>A c.(805-807)caG>caA p.Q269Q NCOA6_ENST00000359003.2_Silent_p.Q269Q Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 269 CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding p.Q269Q(15) NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 gctgctgctgctgttgttgtt 0.537000 5 56 0 0 0.014758 0 0 ZBTB14 7541 broad.mit.edu 37 18 5291661 5291661 + Silent SNP G G A TCGA-DU-6410-01A-11D-1893-08 TCGA-DU-6410-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx f978b356-f9ee-415d-b39c-a8ef1b221734 2b140fc8-fb90-4bf3-93e2-ce81a83a703a g.chr18:5291661G>A ENST00000357006.4 - 4 884 c.546C>T c.(544-546)ccC>ccT p.P182P ZBTB14_ENST00000400143.3_Silent_p.P182P NM_001143823.2|NM_001243704.1 NP_001137295.1|NP_001230633.1 zinc finger and BTB domain containing 14 CCTGACTCGGGGGTGTGCCTT 0.552000 6 206 0 0 0.021553 0 0 DENND4B 9909 broad.mit.edu 37 1 153907303 153907303 + Silent SNP C C T TCGA-DU-6410-01A-11D-1893-08 TCGA-DU-6410-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx f978b356-f9ee-415d-b39c-a8ef1b221734 2b140fc8-fb90-4bf3-93e2-ce81a83a703a g.chr1:153907303C>T ENST00000361217.4 - 18 3124 c.2706G>A c.(2704-2706)caG>caA p.Q902Q NM_014856.2 NP_055671.2 O75064 DEN4B_HUMAN DENN/MADD domain containing 4B 902 Gln-rich. NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 36 all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) gctgctgctgctgttgctgct 0.642000 4 111 0 0 0.009096 0 0 MYH4 4622 broad.mit.edu 37 17 10350515 10350515 + Missense_Mutation SNP C C A TCGA-DU-6410-01A-11D-1893-08 TCGA-DU-6410-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx f978b356-f9ee-415d-b39c-a8ef1b221734 2b140fc8-fb90-4bf3-93e2-ce81a83a703a g.chr17:10350515C>A ENST00000255381.2 - 35 5094 c.4984G>T c.(4984-4986)Gat>Tat p.D1662Y CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 1662 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 ATGGCATCATCCAAATGTAGC 0.453000 25 40 3.01185e-09 3.24353e-09 0.091800 1 0 KANK1 23189 broad.mit.edu 37 9 732477 732477 + Silent SNP G G A TCGA-DU-6410-01A-11D-1893-08 TCGA-DU-6410-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx f978b356-f9ee-415d-b39c-a8ef1b221734 2b140fc8-fb90-4bf3-93e2-ce81a83a703a g.chr9:732477G>A ENST00000382303.1 + 10 3757 c.3105G>A c.(3103-3105)gaG>gaA p.E1035E KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382293.3_Silent_p.E877E|KANK1_ENST00000382297.2_Silent_p.E1035E NM_001256876.1 NP_001243805.1 Q14678 KANK1_HUMAN KN motif and ankyrin repeat domains 1 1035 negative regulation of actin filament polymerization cytoplasm autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1) 43 Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128) Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222) TTGAAGAAGAGGAGGAGGAGG 0.468000 4 185 0 0 0.014758 0 0 USP7 7874 broad.mit.edu 37 16 9000424 9000424 + Silent SNP C C T TCGA-DU-6410-01A-11D-1893-08 TCGA-DU-6410-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx f978b356-f9ee-415d-b39c-a8ef1b221734 2b140fc8-fb90-4bf3-93e2-ce81a83a703a g.chr16:9000424C>T ENST00000344836.4 - 13 1485 c.1287G>A c.(1285-1287)gaG>gaA p.E429E USP7_ENST00000381886.4_Silent_p.E413E|USP7_ENST00000535863.1_Silent_p.E330E NM_003470.2 NP_003461.2 Q93009 UBP7_HUMAN ubiquitin specific peptidase 7 (herpes virus-associated) 429 interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process cytoplasm|PML body cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 48 GTGGTAACTGCTCTGGGAATT 0.318000 37 36 0 0 0.074837 0 0 DDX43 55510 broad.mit.edu 37 6 74111641 74111641 + Missense_Mutation SNP G G A TCGA-DU-6410-01A-11D-1893-08 TCGA-DU-6410-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx f978b356-f9ee-415d-b39c-a8ef1b221734 2b140fc8-fb90-4bf3-93e2-ce81a83a703a g.chr6:74111641G>A ENST00000370336.4 + 4 654 c.496G>A c.(496-498)Gga>Aga p.G166R DDX43_ENST00000539829.1_Missense_Mutation_p.G166R NM_018665.2 NP_061135.2 Q9NXZ2 DDX43_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 43 166 intracellular ATP binding|ATP-dependent RNA helicase activity|RNA binding NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 24 TGTTGTTGCAGGAGATCGGCC 0.358000 3 60 0 0 0.009096 0 0 EGFR 1956 broad.mit.edu 37 7 55221822 55221822 + Missense_Mutation SNP C C T rs149840192 TCGA-DU-6410-01A-11D-1893-08 TCGA-DU-6410-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx f978b356-f9ee-415d-b39c-a8ef1b221734 2b140fc8-fb90-4bf3-93e2-ce81a83a703a g.chr7:55221822C>T ENST00000275493.2 + 7 1043 c.866C>T c.(865-867)gCc>gTc p.A289V EGFR_ENST00000420316.2_Missense_Mutation_p.A289V|EGFR_ENST00000455089.1_Missense_Mutation_p.A244V|EGFR_ENST00000454757.2_Missense_Mutation_p.A236V|EGFR_ENST00000442591.1_Missense_Mutation_p.A289V|EGFR_ENST00000344576.2_Missense_Mutation_p.A289V|EGFR_ENST00000342916.3_Missense_Mutation_p.A289V NM_005228.3 NP_005219.2 P00533 EGFR_HUMAN epidermal growth factor receptor 289 activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.A289V(20)|p.A289D(3) NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) AGCTTTGGTGCCACCTGCGTG 0.592000 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 6 106 0 0 0.021553 0 0 PTPRB 0 broad.mit.edu 37 12 70980859 70980859 + Nonsense_Mutation SNP G G A TCGA-DU-6410-01A-11D-1893-08 TCGA-DU-6410-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx f978b356-f9ee-415d-b39c-a8ef1b221734 2b140fc8-fb90-4bf3-93e2-ce81a83a703a g.chr12:70980859G>A ENST00000334414.6 - 9 2283 c.2239C>T c.(2239-2241)Cga>Tga p.R747* PTPRB_ENST00000551525.1_Nonsense_Mutation_p.R746*|PTPRB_ENST00000550857.1_Nonsense_Mutation_p.R439*|PTPRB_ENST00000550358.1_Nonsense_Mutation_p.R747*|PTPRB_ENST00000538708.1_Nonsense_Mutation_p.R529*|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000451516.2_Nonsense_Mutation_p.R439*|PTPRB_ENST00000261266.5_Nonsense_Mutation_p.R529* NM_001109754.2 NP_001103224.1 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 529 Fibronectin type-III 9. angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) ATGTATTTTCGTCCAGGCACC 0.378000 55 53 0 0 0.139131 0 0 MTO1 25821 broad.mit.edu 37 6 74191908 74191908 + Missense_Mutation SNP G G A TCGA-DU-6410-01A-11D-1893-08 TCGA-DU-6410-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx f978b356-f9ee-415d-b39c-a8ef1b221734 2b140fc8-fb90-4bf3-93e2-ce81a83a703a g.chr6:74191908G>A ENST00000498286.1 + 8 1683 c.1406G>A c.(1405-1407)cGa>cAa p.R469Q MTO1_ENST00000370305.1_Missense_Mutation_p.R420Q|MTO1_ENST00000415954.2_Missense_Mutation_p.R509Q|MTO1_ENST00000370300.4_Missense_Mutation_p.R494Q Q9Y2Z2 MTO1_HUMAN mitochondrial tRNA translation optimization 1 494 tRNA processing mitochondrion flavin adenine dinucleotide binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1) 27 TTTACCAGCCGAGTAGAGTTC 0.527000 7 72 0 0 0.029380 0 0 FUBP3 8939 broad.mit.edu 37 9 133506050 133506050 + Missense_Mutation SNP G G A TCGA-DU-6410-01A-11D-1893-08 TCGA-DU-6410-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx f978b356-f9ee-415d-b39c-a8ef1b221734 2b140fc8-fb90-4bf3-93e2-ce81a83a703a g.chr9:133506050G>A ENST00000319725.9 + 13 1228 c.1153G>A c.(1153-1155)Ggg>Agg p.G385R NM_003934.1 NP_003925.1 Q96I24 FUBP3_HUMAN far upstream element (FUSE) binding protein 3 385 KH 4. positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|RNA binding NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|urinary_tract(2) 21 OV - Ovarian serous cystadenocarcinoma(145;0.000279) CCAGCAGTCAGGGGCGCACGT 0.612000 37 60 0 0 0.092188 0 0 HHLA2 11148 broad.mit.edu 37 3 108074123 108074123 + Missense_Mutation SNP T T C TCGA-DU-6410-01A-11D-1893-08 TCGA-DU-6410-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx f978b356-f9ee-415d-b39c-a8ef1b221734 2b140fc8-fb90-4bf3-93e2-ce81a83a703a g.chr3:108074123T>C ENST00000357759.5 + 5 994 c.580T>C c.(580-582)Tct>Cct p.S194P HHLA2_ENST00000467562.1_Missense_Mutation_p.S130P|HHLA2_ENST00000467761.1_Missense_Mutation_p.S194P|HHLA2_ENST00000489514.2_Missense_Mutation_p.S194P|HHLA2_ENST00000491820.1_Missense_Mutation_p.S194P NM_007072.2 NP_009003.1 Q9UM44 HHLA2_HUMAN HERV-H LTR-associating 2 194 Ig-like C1-type. integral to membrane endometrium(2)|large_intestine(1)|lung(14)|ovary(1) 18 GGATTCTTTTTCTATTAACAG 0.388000 10 71 0 0 0.080935 0 0 TARS 6897 broad.mit.edu 37 5 33445453 33445453 + Silent SNP A A G TCGA-DU-6410-01A-11D-1893-08 TCGA-DU-6410-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx f978b356-f9ee-415d-b39c-a8ef1b221734 2b140fc8-fb90-4bf3-93e2-ce81a83a703a g.chr5:33445453A>G ENST00000265112.3 + 2 392 c.81A>G c.(79-81)caA>caG p.Q27Q TARS_ENST00000455217.2_Silent_p.Q27Q|TARS_ENST00000414361.2_5'UTR|TARS_ENST00000541634.1_5'UTR|TARS_ENST00000502553.1_Silent_p.Q27Q NM_152295.4 NP_689508.3 P26639 SYTC_HUMAN threonyl-tRNA synthetase 27 threonyl-tRNA aminoacylation cytosol ATP binding|protein homodimerization activity|threonine-tRNA ligase activity NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1) 29 L-Threonine(DB00156) AAGAGAAGCAAAAGGAAGGAG 0.423000 4 16 0 0 0.009096 0 0 DDX17 10521 broad.mit.edu 37 22 38890947 38890947 + Missense_Mutation SNP T T C TCGA-DU-6410-01A-11D-1893-08 TCGA-DU-6410-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx f978b356-f9ee-415d-b39c-a8ef1b221734 2b140fc8-fb90-4bf3-93e2-ce81a83a703a g.chr22:38890947T>C ENST00000396821.3 - 7 1084 c.985A>G c.(985-987)Aga>Gga p.R329G DDX17_ENST00000432525.1_5'UTR|DDX17_ENST00000381633.3_Missense_Mutation_p.R250G NM_001098504.1|NM_006386.4 NP_001091974.1|NP_006377.2 Q92841 DDX17_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 17 250 Helicase C-terminal. RNA processing nucleus ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 25 Melanoma(58;0.0286) TCAAGCATTCTGTCAGCTTCG 0.428000 50 80 0 0 0.139131 0 0 ARMC3 219681 broad.mit.edu 37 10 23287189 23287189 + Missense_Mutation SNP C C A TCGA-DU-6410-01A-11D-1893-08 TCGA-DU-6410-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx f978b356-f9ee-415d-b39c-a8ef1b221734 2b140fc8-fb90-4bf3-93e2-ce81a83a703a g.chr10:23287189C>A ENST00000298032.5 + 11 1372 c.1288C>A c.(1288-1290)Ccc>Acc p.P430T ARMC3_ENST00000409049.3_Missense_Mutation_p.P430T|ARMC3_ENST00000409983.3_Missense_Mutation_p.P430T|ARMC3_ENST00000376528.4_Missense_Mutation_p.P167T NM_173081.3 NP_775104.2 Q5W041 ARMC3_HUMAN armadillo repeat containing 3 430 binding breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 CATGCAGGAGCCCCTGCGCCT 0.493000 12 14 6.40141e-05 6.68804e-05 0.080935 1 0 ALB 213 broad.mit.edu 37 4 74280861 74280861 + Missense_Mutation SNP C C T rs141343001 TCGA-DU-6410-01A-11D-1893-08 TCGA-DU-6410-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx f978b356-f9ee-415d-b39c-a8ef1b221734 2b140fc8-fb90-4bf3-93e2-ce81a83a703a g.chr4:74280861C>T ENST00000295897.4 + 9 1257 c.1168C>T c.(1168-1170)Cct>Tct p.P390S ALB_ENST00000503124.1_Missense_Mutation_p.P240S|ALB_ENST00000415165.2_Missense_Mutation_p.P198S|ALB_ENST00000401494.3_Missense_Mutation_p.P275S|ALB_ENST00000505649.1_3'UTR|ALB_ENST00000509063.1_Missense_Mutation_p.P390S NM_000477.5 NP_000468.1 P02768 ALBU_HUMAN albumin 390 Albumin 2. bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport extracellular space|platelet alpha granule lumen|protein complex antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding p.P390S(1) NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1) 48 Breast(15;0.00102) Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137) CGCTGCAGATCCTCATGAATG 0.398000 40 5 0 0 0.111260 0 0 AK9 221264 broad.mit.edu 37 6 109854548 109854548 + Missense_Mutation SNP C C T TCGA-DU-6410-01A-11D-1893-08 TCGA-DU-6410-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx f978b356-f9ee-415d-b39c-a8ef1b221734 2b140fc8-fb90-4bf3-93e2-ce81a83a703a g.chr6:109854548C>T ENST00000424296.2 - 28 3552 c.3476G>A c.(3475-3477)cGc>cAc p.R1159H AK9_ENST00000341338.6_Missense_Mutation_p.R238H|AK9_ENST00000355283.1_Missense_Mutation_p.R238H NM_001145128.2 NP_001138600.2 adenylate kinase 9 AGGAAGGAGGCGATCAAAAAT 0.383000 34 38 0 0 0.059317 0 0 UTP18 51096 broad.mit.edu 37 17 49371388 49371388 + Missense_Mutation SNP G G A TCGA-DU-6410-01A-11D-1893-08 TCGA-DU-6410-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx f978b356-f9ee-415d-b39c-a8ef1b221734 2b140fc8-fb90-4bf3-93e2-ce81a83a703a g.chr17:49371388G>A ENST00000225298.7 + 12 1685 c.1628G>A c.(1627-1629)gGc>gAc p.G543D NM_016001.2 NP_057085.2 Q9Y5J1 UTP18_HUMAN UTP18 small subunit (SSU) processome component homolog (yeast) 543 GKALMYRLHHYSDF -> ARP (in Ref. 1; AAD34043). rRNA processing nucleolus breast(2)|endometrium(3)|kidney(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 16 BRCA - Breast invasive adenocarcinoma(22;2.09e-07) AATGAAAAGGGCAAGGCCCTG 0.333000 24 30 0 0 0.108266 0 0 IGHV3-30 0 broad.mit.edu 37 14 106791017 106791017 + RNA SNP A A G TCGA-DU-6410-01A-11D-1893-08 TCGA-DU-6410-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx f978b356-f9ee-415d-b39c-a8ef1b221734 2b140fc8-fb90-4bf3-93e2-ce81a83a703a g.chr14:106791017A>G ENST00000390613.2 - 0 418 TCGCACAGTAATACACAGCCG 0.567000 156 1085 0 0 0.139131 0 0 CASD1 64921 broad.mit.edu 37 7 94163000 94163000 + Missense_Mutation SNP A A G TCGA-DU-6410-01A-11D-1893-08 TCGA-DU-6410-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx f978b356-f9ee-415d-b39c-a8ef1b221734 2b140fc8-fb90-4bf3-93e2-ce81a83a703a g.chr7:94163000A>G ENST00000297273.4 + 7 801 c.514A>G c.(514-516)Aag>Gag p.K172E NM_022900.4 NP_075051.4 Q96PB1 CASD1_HUMAN CAS1 domain containing 1 172 integral to membrane NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1) 31 all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215) STAD - Stomach adenocarcinoma(171;0.0031) GTGGTCCATCAAGATTCACAA 0.294000 26 54 0 0 0.099896 0 0 SOGA2 23255 broad.mit.edu 37 18 8793017 8793017 + Missense_Mutation SNP C C T TCGA-DU-6410-01A-11D-1893-08 TCGA-DU-6410-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx f978b356-f9ee-415d-b39c-a8ef1b221734 2b140fc8-fb90-4bf3-93e2-ce81a83a703a g.chr18:8793017C>T ENST00000359865.3 + 8 2051 c.1909C>T c.(1909-1911)Cct>Tct p.P637S SOGA2_ENST00000400050.3_Intron|SOGA2_ENST00000517570.1_Intron|SOGA2_ENST00000306329.11_Intron|SOGA2_ENST00000518815.1_Intron|SOGA2_ENST00000306285.7_5'UTR NM_015210.3 NP_056025.2 Q9Y4B5 CC165_HUMAN SOGA family member 2 980 CCCCGTTTTACCTGAGCAGAG 0.527000 113 128 0 0 0.139131 0 0 SARDH 1757 broad.mit.edu 37 9 136597618 136597618 + Missense_Mutation SNP C C T TCGA-DU-6410-01A-11D-1893-08 TCGA-DU-6410-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx f978b356-f9ee-415d-b39c-a8ef1b221734 2b140fc8-fb90-4bf3-93e2-ce81a83a703a g.chr9:136597618C>T ENST00000371872.4 - 3 694 c.437G>A c.(436-438)gGc>gAc p.G146D SARDH_ENST00000298628.5_Missense_Mutation_p.G146D|SARDH_ENST00000439388.1_Missense_Mutation_p.G146D|SARDH_ENST00000371867.1_Missense_Mutation_p.G57D|SARDH_ENST00000422262.2_5'UTR NM_007101.3 NP_009032.2 Q9UL12 SARDH_HUMAN sarcosine dehydrogenase 146 glycine catabolic process mitochondrial matrix aminomethyltransferase activity|sarcosine dehydrogenase activity central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 44 OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05) CTGGATCCAGCCCGTGTGTAG 0.672000 5 211 0 0 0.029380 0 0 DIP2A 23181 broad.mit.edu 37 21 47952057 47952057 + Silent SNP G G T TCGA-DU-6410-01A-11D-1893-08 TCGA-DU-6410-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx f978b356-f9ee-415d-b39c-a8ef1b221734 2b140fc8-fb90-4bf3-93e2-ce81a83a703a g.chr21:47952057G>T ENST00000318711.7 + 10 1398 c.1215G>T c.(1213-1215)ccG>ccT p.P405P DIP2A_ENST00000417564.2_Silent_p.P404P|DIP2A_ENST00000466639.1_Silent_p.P361P|DIP2A_ENST00000400274.1_Silent_p.P400P|DIP2A_ENST00000457905.3_Silent_p.P404P|DIP2A_ENST00000435722.3_Silent_p.P404P|DIP2A_ENST00000427143.2_Silent_p.P340P NM_001146116.1|NM_015151.3 NP_001139588.1|NP_055966.2 Q14689 DIP2A_HUMAN DIP2 disco-interacting protein 2 homolog A (Drosophila) 404 multicellular organismal development nucleus catalytic activity|transcription factor binding cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Breast(49;0.0933) Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824) TCGTGTTTCCGAATAGTGACC 0.378000 18 28 2.94398e-08 3.12241e-08 0.043863 1 0 MUC15 143662 broad.mit.edu 37 11 26584807 26584807 + Missense_Mutation SNP T T C TCGA-DU-6410-01A-11D-1893-08 TCGA-DU-6410-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx f978b356-f9ee-415d-b39c-a8ef1b221734 2b140fc8-fb90-4bf3-93e2-ce81a83a703a g.chr11:26584807T>C ENST00000436318.2 - 3 914 c.781A>G c.(781-783)Aga>Gga p.R261G MUC15_ENST00000455601.2_Missense_Mutation_p.R234G|MUC15_ENST00000529533.1_Missense_Mutation_p.R261G|ANO3_ENST00000525139.1_Intron|MUC15_ENST00000281268.8_Intron|ANO3_ENST00000256737.3_Intron|MUC15_ENST00000527569.1_Intron|ANO3_ENST00000537978.1_Intron|ANO3_ENST00000531568.1_Intron Q8N387 MUC15_HUMAN mucin 15, cell surface associated 234 extracellular region|integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 25 CCTGTATTTCTATTTTCTACA 0.328000 6 53 0 0 0.021553 0 0 MATR3 9782 broad.mit.edu 37 5 138643853 138643853 + Missense_Mutation SNP A A G TCGA-DU-6410-01A-11D-1893-08 TCGA-DU-6410-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx f978b356-f9ee-415d-b39c-a8ef1b221734 2b140fc8-fb90-4bf3-93e2-ce81a83a703a g.chr5:138643853A>G ENST00000394800.2 + 6 1298 c.749A>G c.(748-750)tAt>tGt p.Y250C MATR3_ENST00000510056.1_Missense_Mutation_p.Y250C|MATR3_ENST00000502499.1_Intron|MATR3_ENST00000361059.2_Missense_Mutation_p.Y250C|MATR3_ENST00000504203.1_Intron|MATR3_ENST00000502929.1_Missense_Mutation_p.Y250C|MATR3_ENST00000503811.1_Intron|MATR3_ENST00000509990.1_Missense_Mutation_p.Y250C|MATR3_ENST00000394805.3_Missense_Mutation_p.Y250C P43243 MATR3_HUMAN matrin 3 250 nuclear inner membrane|nuclear matrix nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 29 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) GACAGTGAGTATGAGAGAATG 0.418000 22 58 0 0 0.069288 0 0 GNA13 10672 broad.mit.edu 37 17 63052662 63052662 + Missense_Mutation SNP C C T TCGA-DU-6410-01A-11D-1893-08 TCGA-DU-6410-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx f978b356-f9ee-415d-b39c-a8ef1b221734 2b140fc8-fb90-4bf3-93e2-ce81a83a703a g.chr17:63052662C>T ENST00000439174.2 - 1 295 c.50G>A c.(49-51)gGc>gAc p.G17D NM_006572.4 NP_006563.2 Q14344 GNA13_HUMAN guanine nucleotide binding protein (G protein), alpha 13 17 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase D activity|cellular component movement|platelet activation|Rho protein signal transduction brush border membrane|heterotrimeric G-protein complex|melanosome D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity|type 1 angiotensin receptor binding breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(14)|kidney(2)|large_intestine(4)|lung(6)|urinary_tract(1) 34 CAGCAGGCAGCCGGGGAAGCA 0.677000 5 182 0 0 0.029380 0 0 KLHL38 340359 broad.mit.edu 37 8 124664667 124664667 + Missense_Mutation SNP G G A TCGA-DU-6410-01A-11D-1893-08 TCGA-DU-6410-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx f978b356-f9ee-415d-b39c-a8ef1b221734 2b140fc8-fb90-4bf3-93e2-ce81a83a703a g.chr8:124664667G>A ENST00000325995.7 - 1 523 c.500C>T c.(499-501)gCc>gTc p.A167V CTD-2552K11.2_ENST00000524355.1_RNA NM_001081675.2 NP_001075144.2 Q2WGJ6 KLH38_HUMAN kelch-like family member 38 167 BACK. breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1) 38 GGCCGATGCGGCCACCTCTGG 0.567000 59 61 0 0 0.139131 0 0 SURF4 6836 broad.mit.edu 37 9 136230559 136230559 + Missense_Mutation SNP G G A TCGA-DU-6410-01A-11D-1893-08 TCGA-DU-6410-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx f978b356-f9ee-415d-b39c-a8ef1b221734 2b140fc8-fb90-4bf3-93e2-ce81a83a703a g.chr9:136230559G>A ENST00000371989.3 - 6 749 c.620C>T c.(619-621)aCt>aTt p.T207I SURF4_ENST00000467910.1_5'UTR|SURF4_ENST00000485435.2_Intron|SURF4_ENST00000545297.1_3'UTR NM_033161.2 NP_149351.1 O15260 SURF4_HUMAN surfeit 4 207 endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane protein binding kidney(1)|large_intestine(2)|lung(5) 8 OV - Ovarian serous cystadenocarcinoma(145;5.32e-07)|Epithelial(140;4.56e-06)|all cancers(34;4.25e-05) CACAACAAGAGTCAAAGCAGC 0.443000 3 47 0 0 0.115264 0 0 PCSK9 255738 broad.mit.edu 37 1 55505552 55505553 + In_Frame_Ins INS - - CTG rs35574083 TCGA-DU-6410-01A-11D-1893-08 TCGA-DU-6410-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx f978b356-f9ee-415d-b39c-a8ef1b221734 2b140fc8-fb90-4bf3-93e2-ce81a83a703a g.chr1:55505552_55505553insCTG ENST00000302118.5 + 1 332_333 c.42_43insCTG c.(40-45)cctgct>ccCTGtgct p.14_15PA>PCA PCSK9_ENST00000452118.2_In_Frame_Ins_p.14_15PA>PCA NM_174936.3 NP_777596.2 Q8NBP7 PCSK9_HUMAN proprotein convertase subtilisin/kexin type 9 14 cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity extracellular space|late endosome|lysosome|perinuclear region of cytoplasm apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding p.P14_L15insL(2) NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1) 32 Ggccgctgccactgctgctgct 0.703 8 2 --- --- --- --- TATDN2 9797 broad.mit.edu 37 3 10291133 10291135 + In_Frame_Del DEL CTT CTT - rs148201381 TCGA-DU-6410-01A-11D-1893-08 TCGA-DU-6410-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx f978b356-f9ee-415d-b39c-a8ef1b221734 2b140fc8-fb90-4bf3-93e2-ce81a83a703a g.chr3:10291133_10291135delCTT ENST00000287652.4 + 2 1300_1302 c.249_251delCTT c.(247-252)tcc>tc p.SF83del RP11-438J1.1_ENST00000450534.1_In_Frame_Del_p.SF26del|TATDN2_ENST00000448281.2_In_Frame_Del_p.SF83del NM_014760.3 NP_055575.3 Q93075 TATD2_HUMAN TatD DNase domain containing 2 83 nucleus endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding p.F84fs*19(1) autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2) 28 CCTCCTCCTCCTTCTCCCCACAT 0.631 61 334 --- --- --- --- BUB3 9184 broad.mit.edu 37 10 124921819 124921821 + In_Frame_Del DEL AGA AGA - TCGA-DU-6410-01A-11D-1893-08 TCGA-DU-6410-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx f978b356-f9ee-415d-b39c-a8ef1b221734 2b140fc8-fb90-4bf3-93e2-ce81a83a703a g.chr10:124921819_124921821delAGA ENST00000368865.4 + 6 853_855 c.644_646delAGA c.(643-648)cag>c p.QK215del BUB3_ENST00000368858.5_In_Frame_Del_p.QK215del|BUB3_ENST00000481952.1_3'UTR|BUB3_ENST00000368859.2_Intron|BUB3_ENST00000538238.1_In_Frame_Del_p.QK135del NM_004725.3 NP_004716.1 O43684 BUB3_HUMAN BUB3 mitotic checkpoint protein 215 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|attachment of spindle microtubules to kinetochore|cell division|meiosis|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle condensed chromosome kinetochore|cytosol|nucleus protein binding endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1) 9 all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163) CCTGAGGTACAGAAGAAGAAGTA 0.389 9 334 --- --- --- --- RP11-64D24.2 0 broad.mit.edu 37 11 114128386 114128387 + RNA DEL AC AC - TCGA-DU-6410-01A-11D-1893-08 TCGA-DU-6410-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx f978b356-f9ee-415d-b39c-a8ef1b221734 2b140fc8-fb90-4bf3-93e2-ce81a83a703a g.chr11:114128386_114128387delAC ENST00000544925.1 - 0 56 CAACTCCCCGacacacacacac 0.599 3 4 --- --- --- --- AC068831.10 0 broad.mit.edu 37 15 91577398 91577398 + RNA DEL G G - rs71463787 TCGA-DU-6410-01A-11D-1893-08 TCGA-DU-6410-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx f978b356-f9ee-415d-b39c-a8ef1b221734 2b140fc8-fb90-4bf3-93e2-ce81a83a703a g.chr15:91577398delG ENST00000557804.1 + 0 465 TCCTGCTGCCGGTTCAGGTGA 0.627 4 3 --- --- --- --- NPIPA5 100288332 broad.mit.edu 37 16 15457565 15457566 + Frame_Shift_Del DEL AC AC - TCGA-DU-6410-01A-11D-1893-08 TCGA-DU-6410-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx f978b356-f9ee-415d-b39c-a8ef1b221734 2b140fc8-fb90-4bf3-93e2-ce81a83a703a g.chr16:15457565_15457566delAC ENST00000360151.4 - 8 1002_1003 c.1003_1004delGT c.(1003-1005)cfs p.V335fs NM_001277325.1 NP_001264254.1 nuclear pore complex interacting protein family, member A5 GAGTGAGCAGACACACTCGGGA 0.446 3 6 --- --- --- ---