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 CRNN 49860 broad.mit.edu 37 1 152383173 152383173 + Missense_Mutation SNP C C A TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84504382-2f05-4a30-82a6-8f60599abe40 e93eb9c6-b20c-4560-82fc-1aac0deffffa g.chr1:152383173C>A ENST00000271835.3 - 3 447 c.385G>T c.(385-387)Ggg>Tgg p.G129W RP1-91G5.3_ENST00000411804.1_RNA NM_016190.2 NP_057274.1 Q9UBG3 CRNN_HUMAN cornulin 129 cell-cell adhesion|response to heat cytoplasm|membrane calcium ion binding breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) TAATGCTGCCCTTTCCCCGCC 0.637000 12 323 3.27435e-08 3.50976e-08 1 1 0 LATS1 9113 broad.mit.edu 37 6 150001152 150001152 + Missense_Mutation SNP T T C TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84504382-2f05-4a30-82a6-8f60599abe40 e93eb9c6-b20c-4560-82fc-1aac0deffffa g.chr6:150001152T>C ENST00000543571.1 - 5 2999 c.2452A>G c.(2452-2454)Agt>Ggt p.S818G LATS1_ENST00000253339.5_Missense_Mutation_p.S818G|LATS1_ENST00000542747.1_5'UTR NM_004690.3 NP_004681.1 O95835 LATS1_HUMAN large tumor suppressor kinase 1 818 Protein kinase. cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation microtubule organizing center|spindle pole ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity central_nervous_system(1)|lung(5) 6 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116) TTATGAACACTTTCAACTGCA 0.373000 27 61 0 0 1 0 0 SLC25A35 399512 broad.mit.edu 37 17 8197966 8197966 + Missense_Mutation SNP C C G rs140818558 byFrequency TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84504382-2f05-4a30-82a6-8f60599abe40 e93eb9c6-b20c-4560-82fc-1aac0deffffa g.chr17:8197966C>G ENST00000380067.2 - 1 204 c.160G>C c.(160-162)Ggc>Cgc p.G54R SLC25A35_ENST00000580340.1_Missense_Mutation_p.G54R|SLC25A35_ENST00000396278.1_Missense_Mutation_p.G54R|SLC25A35_ENST00000577745.1_Missense_Mutation_p.G54R|SLC25A35_ENST00000579192.1_Missense_Mutation_p.G54R NM_201520.1 NP_958928.1 Q3KQZ1 S2535_HUMAN solute carrier family 25, member 35 54 transport integral to membrane|mitochondrial inner membrane breast(2)|large_intestine(2)|lung(2) 6 TCCACCTTGCCGATGGTGATG 0.597000 11 19 0 0 1 0 0 OR4A15 81328 broad.mit.edu 37 11 55136252 55136252 + Missense_Mutation SNP C C T TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84504382-2f05-4a30-82a6-8f60599abe40 e93eb9c6-b20c-4560-82fc-1aac0deffffa g.chr11:55136252C>T ENST00000314706.3 + 1 893 c.893C>T c.(892-894)tCc>tTc p.S298F NM_001005275.1 NP_001005275.1 Q8NGL6 O4A15_HUMAN olfactory receptor, family 4, subfamily A, member 15 298 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 71 ATTGATAAATCCATGACTGTA 0.403000 50 125 0 0 1 0 0 DUOXA2 405753 broad.mit.edu 37 15 45408812 45408812 + Missense_Mutation SNP G G A TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84504382-2f05-4a30-82a6-8f60599abe40 e93eb9c6-b20c-4560-82fc-1aac0deffffa g.chr15:45408812G>A ENST00000323030.5 + 4 724 c.439G>A c.(439-441)Gag>Aag p.E147K NM_207581.3 NP_997464.2 Q1HG44 DOXA2_HUMAN dual oxidase maturation factor 2 147 protein transport endoplasmic reticulum membrane|integral to membrane all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;2.88e-18)|GBM - Glioblastoma multiforme(94;3.95e-07)|COAD - Colon adenocarcinoma(120;0.0652)|Colorectal(133;0.0659) GAACGCACTGGAGAAGGGGCT 0.602000 12 39 0 0 1 0 0 NFASC 23114 broad.mit.edu 37 1 204943842 204943842 + Silent SNP C C T TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84504382-2f05-4a30-82a6-8f60599abe40 e93eb9c6-b20c-4560-82fc-1aac0deffffa g.chr1:204943842C>T ENST00000367172.4 + 14 1777 c.1449C>T c.(1447-1449)aaC>aaT p.N483N NFASC_ENST00000360049.4_Silent_p.N494N|NFASC_ENST00000513543.1_Silent_p.N494N|NFASC_ENST00000404907.1_Silent_p.N494N|NFASC_ENST00000339876.6_Silent_p.N483N|NFASC_ENST00000367170.4_Silent_p.N483N|NFASC_ENST00000338586.6_Silent_p.N483N|NFASC_ENST00000404076.1_Silent_p.N477N|NFASC_ENST00000539706.1_Silent_p.N494N|NFASC_ENST00000367171.4_Silent_p.N483N|NFASC_ENST00000338515.6_Silent_p.N483N|NFASC_ENST00000401399.1_Silent_p.N483N|NFASC_ENST00000367169.4_Silent_p.N483N|NFASC_ENST00000403080.1_Silent_p.N483N O94856 NFASC_HUMAN neurofascin 483 Ig-like C2-type 5. axon guidance|cell adhesion|myelination|peripheral nervous system development integral to membrane|node of Ranvier|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 81 all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) TTTATGAGAACGGCAGTCTGG 0.512000 43 69 0 0 1 0 0 ADAMTS2 9509 broad.mit.edu 37 5 178553118 178553118 + Silent SNP G G A TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84504382-2f05-4a30-82a6-8f60599abe40 e93eb9c6-b20c-4560-82fc-1aac0deffffa g.chr5:178553118G>A ENST00000251582.7 - 18 2732 c.2631C>T c.(2629-2631)acC>acT p.T877T NM_014244.4 NP_055059.2 O95450 ATS2_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 2 877 TSP type-1 2. collagen catabolic process proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7) 72 all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326) all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.0473) AGCCATACTTGGTGAACTGGG 0.662000 37 118 0 0 1 0 0 CDK6 1021 broad.mit.edu 37 7 92247520 92247520 + Splice_Site SNP C C T TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84504382-2f05-4a30-82a6-8f60599abe40 e93eb9c6-b20c-4560-82fc-1aac0deffffa g.chr7:92247520C>T ENST00000265734.4 - 7 1111 c.700G>A c.(700-702)Gtg>Atg p.V234M CDK6_ENST00000424848.2_Splice_Site_p.V234M NM_001259.6 NP_001250.1 Q00534 CDK6_HUMAN cyclin-dependent kinase 6 234 Protein kinase. cell dedifferentiation|cell division|G1 phase of mitotic cell cycle|gliogenesis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|negative regulation of osteoblast differentiation|positive regulation of cell-matrix adhesion|positive regulation of fibroblast proliferation|regulation of erythrocyte differentiation|regulation of gene expression|response to virus cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleus|ruffle ATP binding|cyclin binding|cyclin-dependent protein kinase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1) 11 all_cancers(62;8.72e-12)|all_epithelial(64;3.65e-10)|Breast(17;0.000675)|all_lung(186;0.0392)|Lung NSC(181;0.053)|all_neural(327;0.219)|all_hematologic(106;0.237) STAD - Stomach adenocarcinoma(4;6.16e-07)|GBM - Glioblastoma multiforme(5;1.2e-06)|all cancers(6;3.1e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23) AGTCCAATCACGCTACAAAAG 0.443000 T MLLT10 ALL 12 34 0 0 1 0 0 HSPA12B 116835 broad.mit.edu 37 20 3726607 3726607 + Missense_Mutation SNP C C T TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84504382-2f05-4a30-82a6-8f60599abe40 e93eb9c6-b20c-4560-82fc-1aac0deffffa g.chr20:3726607C>T ENST00000254963.2 + 7 749 c.604C>T c.(604-606)Cgc>Tgc p.R202C HSPA12B_ENST00000542646.1_Missense_Mutation_p.R36C NM_001197327.1|NM_052970.4 NP_001184256.1|NP_443202.3 Q96MM6 HS12B_HUMAN heat shock 70kD protein 12B 202 ATP binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1) 14 GGACACTGTGCGCTGGGTGTT 0.632000 27 32 0 0 1 0 0 STXBP4 252983 broad.mit.edu 37 17 53158478 53158478 + Missense_Mutation SNP C C T TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84504382-2f05-4a30-82a6-8f60599abe40 e93eb9c6-b20c-4560-82fc-1aac0deffffa g.chr17:53158478C>T ENST00000376352.2 + 16 1630 c.1423C>T c.(1423-1425)Cca>Tca p.P475S STXBP4_ENST00000434978.2_Missense_Mutation_p.P453S NM_178509.5 NP_848604.3 Q6ZWJ1 STXB4_HUMAN syntaxin binding protein 4 475 cytoplasm calcium ion binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2) 19 ACGTAGCATCCCAGCAACGCT 0.393000 33 66 0 0 1 0 0 IRS4 8471 broad.mit.edu 37 X 107978897 107978897 + Silent SNP C C G TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84504382-2f05-4a30-82a6-8f60599abe40 e93eb9c6-b20c-4560-82fc-1aac0deffffa g.chrX:107978897C>G ENST00000372129.2 - 1 754 c.678G>C c.(676-678)gcG>gcC p.A226A NM_003604.2 NP_003595.1 O14654 IRS4_HUMAN insulin receptor substrate 4 226 Poly-Ala. plasma membrane insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1) 78 AGGGTGGCTCCGCCGCCGCTG 0.682000 6 52 0 0 1 0 0 TYMS 7298 broad.mit.edu 37 18 672883 672883 + Silent SNP C C T TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84504382-2f05-4a30-82a6-8f60599abe40 e93eb9c6-b20c-4560-82fc-1aac0deffffa g.chr18:672883C>T ENST00000323274.10 + 7 967 c.828C>T c.(826-828)ttC>ttT p.F276F ENOSF1_ENST00000319815.6_3'UTR|TYMS_ENST00000323250.5_Silent_p.F193F|TYMS_ENST00000581920.1_3'UTR|TYMS_ENST00000323224.7_Silent_p.F242F|ENOSF1_ENST00000383578.3_3'UTR NM_001071.2 NP_001062.1 P04818 TYSY_HUMAN thymidylate synthetase 276 DNA repair|DNA replication|phosphatidylinositol-mediated signaling|pyrimidine base metabolic process|pyrimidine nucleoside biosynthetic process|regulation of transcription involved in G1/S phase of mitotic cell cycle|response to organophosphorus cytosol thymidylate synthase activity endometrium(1)|large_intestine(3)|lung(2)|urinary_tract(2) 8 Capecitabine(DB01101)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Gemcitabine(DB00441)|Leucovorin(DB00650)|Pemetrexed(DB00642)|Raltitrexed(DB00293)|Trifluridine(DB00432) CCAGACCTTTCCCAAAGCTCA 0.393000 26 35 0 0 1 0 0 KPNB1 3837 broad.mit.edu 37 17 45747045 45747045 + Splice_Site SNP C C G TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84504382-2f05-4a30-82a6-8f60599abe40 e93eb9c6-b20c-4560-82fc-1aac0deffffa g.chr17:45747045C>G ENST00000290158.4 + 11 1633 c.1226C>G c.(1225-1227)gCt>gGt p.A409G KPNB1_ENST00000540627.1_Splice_Site_p.A264G|KPNB1_ENST00000535458.2_Splice_Site_p.A264G|KPNB1_ENST00000537679.1_Splice_Site_p.A193G NM_001276453.1|NM_002265.4 NP_001263382.1|NP_002256.2 Q14974 IMB1_HUMAN karyopherin (importin) beta 1 409 Ran-GTP binding. DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|protein import into nucleus, translocation|ribosomal protein import into nucleus|viral genome transport in host cell|viral infectious cycle cytosol|nuclear pore|nucleoplasm nuclear localization sequence binding|protein domain specific binding|zinc ion binding breast(1)|ovary(1)|pancreas(1)|skin(1) 4 TATTTTCAGGCTATGCCCACC 0.383000 29 59 0 0 1 0 0 SAMD7 344658 broad.mit.edu 37 3 169644777 169644777 + Nonsense_Mutation SNP A A T TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84504382-2f05-4a30-82a6-8f60599abe40 e93eb9c6-b20c-4560-82fc-1aac0deffffa g.chr3:169644777A>T ENST00000428432.2 + 6 1116 c.727A>T c.(727-729)Aag>Tag p.K243* SAMD7_ENST00000335556.3_Nonsense_Mutation_p.K243* NM_182610.2 NP_872416.1 Q7Z3H4 SAMD7_HUMAN sterile alpha motif domain containing 7 243 NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106) AACGAATGAAAAGCCAACGAC 0.517000 24 48 0 0 1 0 0 PTGES3 10728 broad.mit.edu 37 12 57064086 57064086 + Silent SNP G G A TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84504382-2f05-4a30-82a6-8f60599abe40 e93eb9c6-b20c-4560-82fc-1aac0deffffa g.chr12:57064086G>A ENST00000262033.6 - 5 648 c.348C>T c.(346-348)gaC>gaT p.D116D PTGES3_ENST00000414274.3_Intron|PTGES3_ENST00000537473.1_5'UTR|PTGES3_ENST00000448157.2_Silent_p.D116D|PTGES3_ENST00000436399.2_Silent_p.D83D|PTGES3_ENST00000456859.2_Silent_p.D80D NM_006601.5 NP_006592.3 Q15185 TEBP_HUMAN prostaglandin E synthase 3 (cytosolic) 116 Asp/Glu-rich. chaperone cofactor-dependent protein refolding|hormone biosynthetic process|prostaglandin biosynthetic process|signal transduction|telomere maintenance cytosol|telomerase holoenzyme complex prostaglandin-E synthase activity|telomerase activity|unfolded protein binding large_intestine(1)|lung(1) 2 AATTAGACATGTCTTCATCTG 0.368000 13 59 0 0 1 0 0 EEF1A1 1915 broad.mit.edu 37 6 74227633 74227633 + Missense_Mutation SNP C C G TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84504382-2f05-4a30-82a6-8f60599abe40 e93eb9c6-b20c-4560-82fc-1aac0deffffa g.chr6:74227633C>G ENST00000316292.9 - 7 2280 c.1289G>C c.(1288-1290)aGa>aCa p.R430T EEF1A1_ENST00000331523.2_Missense_Mutation_p.R430T|EEF1A1_ENST00000491404.1_Intron|EEF1A1_ENST00000309268.6_Missense_Mutation_p.R430T NM_001402.5 NP_001393.1 P68104 EF1A1_HUMAN eukaryotic translation elongation factor 1 alpha 1 430 cytosol|eukaryotic translation elongation factor 1 complex GTP binding|GTPase activity|protein binding|translation elongation factor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3) 18 AACTGTCTGTCTCATATCACG 0.408000 OREG0003893 type=REGULATORY REGION|Gene=BC038897|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 15 58 0 0 1 0 0 COG7 91949 broad.mit.edu 37 16 23417501 23417501 + Missense_Mutation SNP C C T TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84504382-2f05-4a30-82a6-8f60599abe40 e93eb9c6-b20c-4560-82fc-1aac0deffffa g.chr16:23417501C>T ENST00000307149.5 - 12 1743 c.1558G>A c.(1558-1560)Gac>Aac p.D520N NM_153603.3 NP_705831.1 P83436 COG7_HUMAN component of oligomeric golgi complex 7 520 intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane|Golgi transport complex protein binding breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1) 27 GBM - Glioblastoma multiforme(48;0.0401) TTCTTCTTGTCTGTCAAGATG 0.438000 33 67 0 0 1 0 0 DGKG 1608 broad.mit.edu 37 3 186006529 186006529 + Missense_Mutation SNP C C T TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84504382-2f05-4a30-82a6-8f60599abe40 e93eb9c6-b20c-4560-82fc-1aac0deffffa g.chr3:186006529C>T ENST00000265022.3 - 6 1053 c.514G>A c.(514-516)Gag>Aag p.E172K DGKG_ENST00000382164.4_Missense_Mutation_p.E172K|DGKG_ENST00000344484.4_Missense_Mutation_p.E172K|DGKG_ENST00000544847.1_Missense_Mutation_p.E172K NM_001080744.1|NM_001080745.1|NM_001346.2 NP_001074213.1|NP_001074214.1|NP_001337.2 P49619 DGKG_HUMAN diacylglycerol kinase, gamma 90kDa 172 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 42 all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) GBM - Glioblastoma multiforme(93;0.0657) Phosphatidylserine(DB00144) CTCCCCGTCTCCAGCAGGGAC 0.562000 42 76 0 0 1 0 0 PPARGC1A 10891 broad.mit.edu 37 4 23830125 23830125 + Missense_Mutation SNP C C A TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84504382-2f05-4a30-82a6-8f60599abe40 e93eb9c6-b20c-4560-82fc-1aac0deffffa g.chr4:23830125C>A ENST00000264867.2 - 5 774 c.655G>T c.(655-657)Gac>Tac p.D219Y PPARGC1A_ENST00000509702.1_5'UTR NM_013261.3 NP_037393.1 Q9UBK2 PRGC1_HUMAN peroxisome proliferator-activated receptor gamma, coactivator 1 alpha 219 androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter DNA-directed RNA polymerase II, core complex androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5) 51 Breast(46;0.0503) TGAGGAGGGTCATCGTTTGTG 0.463000 39 90 1.57019e-19 1.82632e-19 1 1 0 FAT4 79633 broad.mit.edu 37 4 126328072 126328072 + Missense_Mutation SNP G G A TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84504382-2f05-4a30-82a6-8f60599abe40 e93eb9c6-b20c-4560-82fc-1aac0deffffa g.chr4:126328072G>A ENST00000394329.3 + 3 5358 c.5345G>A c.(5344-5346)gGa>gAa p.G1782E FAT4_ENST00000335110.5_Missense_Mutation_p.G80E NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 1782 Cadherin 17. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 ATCATTAGTGGAGCTGATGAT 0.448000 37 39 0 0 1 0 0 PMPCA 23203 broad.mit.edu 37 9 139311566 139311566 + Missense_Mutation SNP G G A TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84504382-2f05-4a30-82a6-8f60599abe40 e93eb9c6-b20c-4560-82fc-1aac0deffffa g.chr9:139311566G>A ENST00000371717.3 + 7 806 c.797G>A c.(796-798)tGt>tAt p.C266Y PMPCA_ENST00000462616.1_3'UTR|PMPCA_ENST00000399219.3_Missense_Mutation_p.C135Y NM_001282946.1|NM_015160.1 NP_001269875.1|NP_055975.1 Q10713 MPPA_HUMAN peptidase (mitochondrial processing) alpha 266 proteolysis mitochondrial inner membrane|mitochondrial matrix metalloendopeptidase activity|zinc ion binding endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1) 14 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05) CTGGTGGACTGTGCCCGGAAG 0.632000 16 26 0 0 1 0 0 SLC24A1 9187 broad.mit.edu 37 15 65917867 65917867 + Silent SNP C C T TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84504382-2f05-4a30-82a6-8f60599abe40 e93eb9c6-b20c-4560-82fc-1aac0deffffa g.chr15:65917867C>T ENST00000261892.6 + 2 1736 c.1449C>T c.(1447-1449)gtC>gtT p.V483V SLC24A1_ENST00000546330.1_Silent_p.V483V|SLC24A1_ENST00000399033.4_Silent_p.V483V|SLC24A1_ENST00000339868.6_Silent_p.V483V|SLC24A1_ENST00000537259.1_Silent_p.V483V|SLC24A1_ENST00000544319.2_Silent_p.V483V NM_001254740.1|NM_004727.2 NP_001241669.1|NP_004718.1 O60721 NCKX1_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 1 483 response to light intensity|visual perception integral to plasma membrane|membrane fraction|outer membrane calcium, potassium:sodium antiporter activity|protein binding|symporter activity breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 CCCTGGGTGTCATCACAGACA 0.577000 21 74 0 0 1 0 0 ZNF599 148103 broad.mit.edu 37 19 35250490 35250490 + Missense_Mutation SNP G G C TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84504382-2f05-4a30-82a6-8f60599abe40 e93eb9c6-b20c-4560-82fc-1aac0deffffa g.chr19:35250490G>C ENST00000329285.8 - 4 1589 c.1216C>G c.(1216-1218)Cat>Gat p.H406D NM_001007248.2 NP_001007249.1 Q96NL3 ZN599_HUMAN zinc finger protein 599 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1) 24 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) GTGGAGCGATGAGTAAAGGCC 0.473000 26 43 0 0 1 0 0 MXD1 4084 broad.mit.edu 37 2 70164457 70164457 + Missense_Mutation SNP G G A TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84504382-2f05-4a30-82a6-8f60599abe40 e93eb9c6-b20c-4560-82fc-1aac0deffffa g.chr2:70164457G>A ENST00000264444.2 + 5 669 c.409G>A c.(409-411)Ggc>Agc p.G137S MXD1_ENST00000540449.1_Missense_Mutation_p.G127S NM_001202513.1|NM_001202514.1|NM_002357.3 NP_001189442.1|NP_001189443.1|NP_002348.1 Q05195 MAD1_HUMAN MAX dimerization protein 1 137 cell proliferation|multicellular organismal development mitochondrion|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity breast(1)|endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1) 7 GGAGAAGCTGGGCATTGAGAG 0.577000 23 52 0 0 1 0 0 DLK1 8788 broad.mit.edu 37 14 101200824 101200824 + Missense_Mutation SNP G G A TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84504382-2f05-4a30-82a6-8f60599abe40 e93eb9c6-b20c-4560-82fc-1aac0deffffa g.chr14:101200824G>A ENST00000341267.4 + 5 985 c.743G>A c.(742-744)cGc>cAc p.R248H DLK1_ENST00000331224.6_Intron NM_003836.5 NP_003827 P80370 DLK1_HUMAN delta-like 1 homolog (Drosophila) 248 multicellular organismal development extracellular space|integral to membrane|soluble fraction breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1) 29 Melanoma(154;0.155) GTCAAGAAGCGCGCGCTGAGC 0.682000 7 46 0 0 1 0 0 ASXL1 171023 broad.mit.edu 37 20 31019208 31019208 + Missense_Mutation SNP T T G TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84504382-2f05-4a30-82a6-8f60599abe40 e93eb9c6-b20c-4560-82fc-1aac0deffffa g.chr20:31019208T>G ENST00000375687.4 + 9 1227 c.803T>G c.(802-804)aTc>aGc p.I268S ASXL1_ENST00000306058.5_Missense_Mutation_p.I263S NM_015338.5 NP_056153 Q8IXJ9 ASXL1_HUMAN additional sex combs like 1 (Drosophila) 268 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent PR-DUB complex metal ion binding|protein binding NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 722 CGTGCCCTGATCAACTCTCGG 0.517000 """F, N, Mis""" """MDS, CMML""" 41 63 0 0 1 0 0 LGALS9B 284194 broad.mit.edu 37 17 20354869 20354869 + Silent SNP C C T TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84504382-2f05-4a30-82a6-8f60599abe40 e93eb9c6-b20c-4560-82fc-1aac0deffffa g.chr17:20354869C>T ENST00000423676.3 - 10 912 c.849G>A c.(847-849)caG>caA p.Q283Q LGALS9B_ENST00000324290.5_Silent_p.Q282Q Q3B8N2 LEG9B_HUMAN lectin, galactoside-binding, soluble, 9B 283 Galectin 2. sugar binding central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(2) 10 AGTTGTTGATCTGGGTGTTAC 0.587000 25 49 0 0 1 0 0 TFE3 7030 broad.mit.edu 37 X 48896788 48896788 + Missense_Mutation SNP C C A TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84504382-2f05-4a30-82a6-8f60599abe40 e93eb9c6-b20c-4560-82fc-1aac0deffffa g.chrX:48896788C>A ENST00000315869.7 - 3 637 c.378G>T c.(376-378)caG>caT p.Q126H TFE3_ENST00000487451.1_5'UTR NM_006521.4 NP_006512.2 P19532 TFE3_HUMAN transcription factor binding to IGHM enhancer 3 126 humoral immune response|positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167) central_nervous_system(1) 1 TCTCCTGCTCCTGCGCCTGGG 0.657000 T """SFPQ, ASPSCR1, PRCC, NONO, CLTC""" """papillary renal, alveolar soft part sarcoma, renal""" 10 12 2.17888e-05 2.20578e-05 1 1 0 C6orf136 221545 broad.mit.edu 37 6 30619094 30619094 + Missense_Mutation SNP G G C TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84504382-2f05-4a30-82a6-8f60599abe40 e93eb9c6-b20c-4560-82fc-1aac0deffffa g.chr6:30619094G>C ENST00000293604.6 + 4 1351 c.1158G>C c.(1156-1158)tgG>tgC p.W386C C6orf136_ENST00000376471.4_Missense_Mutation_p.W71C|C6orf136_ENST00000376473.5_Missense_Mutation_p.W205C|C6orf136_ENST00000528347.2_Missense_Mutation_p.W62C NM_001161376.1 NP_001154848.1 Q5SQH8 CF136_HUMAN chromosome 6 open reading frame 136 205 endometrium(1)|large_intestine(2)|lung(6)|ovary(1) 10 TCCTGGCCTGGAATTATTTTG 0.542000 147 396 0 0 1 0 0 TTC27 55622 broad.mit.edu 37 2 32855736 32855736 + Missense_Mutation SNP G G T TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84504382-2f05-4a30-82a6-8f60599abe40 e93eb9c6-b20c-4560-82fc-1aac0deffffa g.chr2:32855736G>T ENST00000317907.4 + 2 466 c.235G>T c.(235-237)Gat>Tat p.D79Y NM_001193509.1|NM_017735.4 NP_001180438.1|NP_060205.3 Q6P3X3 TTC27_HUMAN tetratricopeptide repeat domain 27 79 protein binding breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 38 AACATTCCTGGATTACTCAAC 0.333000 12 26 4.3838e-07 4.57926e-07 1 1 0 ARHGAP20 57569 broad.mit.edu 37 11 110454287 110454287 + Silent SNP G G A TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84504382-2f05-4a30-82a6-8f60599abe40 e93eb9c6-b20c-4560-82fc-1aac0deffffa g.chr11:110454287G>A ENST00000260283.4 - 14 1874 c.1590C>T c.(1588-1590)aaC>aaT p.N530N ARHGAP20_ENST00000528829.1_Silent_p.N494N|ARHGAP20_ENST00000529591.1_Silent_p.N73N|ARHGAP20_ENST00000357139.3_Silent_p.N504N|ARHGAP20_ENST00000533353.1_Silent_p.N504N|ARHGAP20_ENST00000527598.1_Silent_p.N494N|ARHGAP20_ENST00000524756.1_Silent_p.N507N NM_020809.3 NP_065860.2 Q9P2F6 RHG20_HUMAN Rho GTPase activating protein 20 530 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 60 all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544) Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475) TTGTAAATTCGTTTTCTAGTT 0.393000 16 24 0 0 1 0 0 LOC101927079 101927079 broad.mit.edu 37 15 22332570 22332570 + RNA SNP T T C TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84504382-2f05-4a30-82a6-8f60599abe40 e93eb9c6-b20c-4560-82fc-1aac0deffffa g.chr15:22332570T>C ENST00000558896.1 + 0 377 CCCATGCTCATCTGCTCCAAT 0.398000 6 172 0 0 1 0 0 LHFPL2 10184 broad.mit.edu 37 5 77805876 77805876 + Missense_Mutation SNP G G A TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84504382-2f05-4a30-82a6-8f60599abe40 e93eb9c6-b20c-4560-82fc-1aac0deffffa g.chr5:77805876G>A ENST00000380345.2 - 4 836 c.161C>T c.(160-162)cCg>cTg p.P54L LHFPL2_ENST00000515007.2_Missense_Mutation_p.P54L NM_005779.2 NP_005770.1 Q6ZUX7 LHPL2_HUMAN lipoma HMGIC fusion partner-like 2 54 integral to membrane endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1) 6 all_lung(232;0.000409)|Lung NSC(167;0.00108)|Ovarian(174;0.0107)|Prostate(461;0.218) OV - Ovarian serous cystadenocarcinoma(54;6.48e-46)|Epithelial(54;8.43e-42)|all cancers(79;1.42e-36) GTAGGGCTCCGGGGAgccccc 0.711000 3 5 0 0 1 0 0 RC3H1 149041 broad.mit.edu 37 1 173947722 173947722 + Missense_Mutation SNP C C T TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84504382-2f05-4a30-82a6-8f60599abe40 e93eb9c6-b20c-4560-82fc-1aac0deffffa g.chr1:173947722C>T ENST00000367696.2 - 7 1357 c.1006G>A c.(1006-1008)Gaa>Aaa p.E336K RC3H1_ENST00000367694.2_Missense_Mutation_p.E336K|RC3H1_ENST00000258349.4_Missense_Mutation_p.E336K Q5TC82 RC3H1_HUMAN ring finger and CCCH-type domains 1 336 cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway cytoplasmic mRNA processing body|stress granule mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 50 ATTGTTAGTTCCTGAACACTC 0.398000 16 47 0 0 1 0 0 UHRF1BP1L 23074 broad.mit.edu 37 12 100452661 100452661 + Silent SNP A A C TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84504382-2f05-4a30-82a6-8f60599abe40 e93eb9c6-b20c-4560-82fc-1aac0deffffa g.chr12:100452661A>C ENST00000279907.7 - 14 2606 c.2394T>G c.(2392-2394)ccT>ccG p.P798P UHRF1BP1L_ENST00000545232.2_Silent_p.P448P NM_015054.1 NP_055869.1 A0JNW5 UH1BL_HUMAN UHRF1 binding protein 1-like 798 breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 50 CTGACGAGGAAGGGGAAAATC 0.403000 43 67 0 0 1 0 0 OR6Y1 391112 broad.mit.edu 37 1 158517468 158517468 + Missense_Mutation SNP T T A TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84504382-2f05-4a30-82a6-8f60599abe40 e93eb9c6-b20c-4560-82fc-1aac0deffffa g.chr1:158517468T>A ENST00000302617.3 - 1 427 c.428A>T c.(427-429)aAc>aTc p.N143I NM_001005189.1 NP_001005189.1 Q8NGX8 OR6Y1_HUMAN olfactory receptor, family 6, subfamily Y, member 1 143 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 30 all_hematologic(112;0.0378) ACAGAGCTGGTTGGTCATGAT 0.478000 12 39 0 0 1 0 0 GYG1 2992 broad.mit.edu 37 3 148714218 148714218 + Silent SNP G G A TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84504382-2f05-4a30-82a6-8f60599abe40 e93eb9c6-b20c-4560-82fc-1aac0deffffa g.chr3:148714218G>A ENST00000345003.4 + 3 573 c.273G>A c.(271-273)tcG>tcA p.S91S GYG1_ENST00000484197.1_Silent_p.S91S|GYG1_ENST00000296048.6_Silent_p.S91S|GYG1_ENST00000483267.1_Silent_p.S91S NM_004130.3 NP_004121.2 P46976 GLYG_HUMAN glycogenin 1 91 glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol glycogenin glucosyltransferase activity|metal ion binding|protein binding breast(1)|central_nervous_system(1)|endometrium(2)|lung(3)|ovary(1) 8 LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) ACTGCTGGTCGCTTACACAGT 0.438000 43 56 0 0 1 0 0 TUFT1 7286 broad.mit.edu 37 1 151542215 151542215 + Missense_Mutation SNP G G T rs148427914 TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84504382-2f05-4a30-82a6-8f60599abe40 e93eb9c6-b20c-4560-82fc-1aac0deffffa g.chr1:151542215G>T ENST00000368849.3 + 7 625 c.563G>T c.(562-564)cGg>cTg p.R188L TUFT1_ENST00000368848.2_Missense_Mutation_p.R163L|TUFT1_ENST00000538902.1_Missense_Mutation_p.R207L|TUFT1_ENST00000392712.3_Missense_Mutation_p.R133L|TUFT1_ENST00000353024.3_Missense_Mutation_p.R129L NM_020127.2 NP_064512.1 Q9NNX1 TUFT1_HUMAN tuftelin 1 188 bone mineralization|odontogenesis cytoplasm|extracellular region structural constituent of tooth enamel cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1) 13 Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) LUSC - Lung squamous cell carcinoma(543;0.181) GAGGCCAAGCGGCAACACCAG 0.532000 51 118 9.22156e-22 1.08024e-21 1 1 0 SLC38A7 55238 broad.mit.edu 37 16 58701213 58701213 + Silent SNP A A T TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84504382-2f05-4a30-82a6-8f60599abe40 e93eb9c6-b20c-4560-82fc-1aac0deffffa g.chr16:58701213A>T ENST00000564100.1 - 8 1929 c.1062T>A c.(1060-1062)tcT>tcA p.S354S SLC38A7_ENST00000570101.1_3'UTR|SLC38A7_ENST00000219320.4_3'UTR Q9NVC3 S38A7_HUMAN solute carrier family 38, member 7 0 amino acid transport|sodium ion transport integral to membrane endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 13 TCGTGGACTAAGAATGGCCCC 0.542000 6 21 0 0 1 0 0 CCM2 83605 broad.mit.edu 37 7 45113961 45113961 + Missense_Mutation SNP C C G TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84504382-2f05-4a30-82a6-8f60599abe40 e93eb9c6-b20c-4560-82fc-1aac0deffffa g.chr7:45113961C>G ENST00000381112.3 + 9 1750 c.1071C>G c.(1069-1071)atC>atG p.I357M CCM2_ENST00000461377.1_3'UTR|CCM2_ENST00000544363.1_Missense_Mutation_p.I245M|CCM2_ENST00000474617.1_Missense_Mutation_p.I239M|CCM2_ENST00000258781.6_Missense_Mutation_p.I336M|CCM2_ENST00000541586.1_Missense_Mutation_p.I278M|CCM2_ENST00000475551.1_Missense_Mutation_p.I330M NM_001029835.2 NP_001025006.1 Q9BSQ5 CCM2_HUMAN cerebral cavernous malformation 2 336 endothelial tube morphogenesis|integrin-mediated signaling pathway|stress-activated MAPK cascade|vasculogenesis cytoplasm protein binding NS(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 AGTTCTGCATCAACCTGCGGC 0.592000 14 27 0 0 1 0 0 KRT32 3882 broad.mit.edu 37 17 39622368 39622368 + Missense_Mutation SNP C C G TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84504382-2f05-4a30-82a6-8f60599abe40 e93eb9c6-b20c-4560-82fc-1aac0deffffa g.chr17:39622368C>G ENST00000225899.3 - 2 632 c.529G>C c.(529-531)Gct>Cct p.A177P NM_002278.3 NP_002269.3 Q14532 K1H2_HUMAN keratin 32 177 Coil 1B.|Rod. epidermis development intermediate filament protein binding|structural molecule activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Breast(137;0.000812) TCATCGGCAGCCAGTTTGGCA 0.532000 23 24 0 0 1 0 0 SF3B5 83443 broad.mit.edu 37 6 144416578 144416578 + Silent SNP G G A TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84504382-2f05-4a30-82a6-8f60599abe40 e93eb9c6-b20c-4560-82fc-1aac0deffffa g.chr6:144416578G>A ENST00000367569.2 - 1 176 c.57C>T c.(55-57)atC>atT p.I19I NM_031287.2 NP_112577.1 Q9BWJ5 SF3B5_HUMAN splicing factor 3b, subunit 5, 10kDa 19 nuclear mRNA splicing, via spliceosome nucleoplasm|U12-type spliceosomal complex lung(2)|prostate(1) 3 OV - Ovarian serous cystadenocarcinoma(155;1.68e-06)|GBM - Glioblastoma multiforme(68;0.0638) GGCCCGTGCCGATGTACTTGG 0.592000 8 33 0 0 1 0 0 CUBN 8029 broad.mit.edu 37 10 16945971 16945971 + Missense_Mutation SNP A A C TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84504382-2f05-4a30-82a6-8f60599abe40 e93eb9c6-b20c-4560-82fc-1aac0deffffa g.chr10:16945971A>C ENST00000377833.4 - 51 8121 c.8056T>G c.(8056-8058)Ttt>Gtt p.F2686V NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 2686 CUB 19. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) TTACCTGTAAAGGAATACTTT 0.279000 11 16 0 0 1 0 0 MEGF10 84466 broad.mit.edu 37 5 126791097 126791097 + Silent SNP G G T TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84504382-2f05-4a30-82a6-8f60599abe40 e93eb9c6-b20c-4560-82fc-1aac0deffffa g.chr5:126791097G>T ENST00000274473.6 + 25 3297 c.3030G>T c.(3028-3030)ctG>ctT p.L1010L MEGF10_ENST00000503335.2_Silent_p.L1010L|MEGF10_ENST00000510828.1_3'UTR NM_032446.2 NP_115822.1 Q96KG7 MEG10_HUMAN multiple EGF-like-domains 10 1010 Necessary for formation of large intracellular vacuoles. cell adhesion|phagocytosis basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 68 Prostate(80;0.165) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123) TCACAGACCTGGGAAAGAATT 0.388000 52 70 3.31993e-32 3.94542e-32 1 1 0 TBX3 6926 broad.mit.edu 37 12 115112401 115112401 + Missense_Mutation SNP G G C TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84504382-2f05-4a30-82a6-8f60599abe40 e93eb9c6-b20c-4560-82fc-1aac0deffffa g.chr12:115112401G>C ENST00000349155.2 - 6 2242 c.1279C>G c.(1279-1281)Cgc>Ggc p.R427G TBX3_ENST00000257566.3_Missense_Mutation_p.R447G NM_005996.3 NP_005987.3 O15119 TBX3_HUMAN T-box 3 447 anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development nucleus sequence-specific DNA binding breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Medulloblastoma(191;0.163)|all_neural(191;0.178) BRCA - Breast invasive adenocarcinoma(302;0.0574) CCCAGGCCGCGAGTGCTGGAC 0.736000 3 9 0 0 1 0 0 CFL1 1072 broad.mit.edu 37 11 65623177 65623177 + Silent SNP C C T TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84504382-2f05-4a30-82a6-8f60599abe40 e93eb9c6-b20c-4560-82fc-1aac0deffffa g.chr11:65623177C>T ENST00000525451.2 - 4 1051 c.336G>A c.(334-336)aaG>aaA p.K112K CFL1_ENST00000524553.1_Silent_p.K95K|CFL1_ENST00000308162.5_Silent_p.K112K|CFL1_ENST00000527344.1_Silent_p.K95K|CFL1_ENST00000534769.1_Silent_p.K150K|CFL1_ENST00000531413.1_Silent_p.K95K|CFL1_ENST00000531407.1_Silent_p.K95K P23528 COF1_HUMAN cofilin 1 (non-muscle) 112 ADF-H. actin cytoskeleton organization|anti-apoptosis|axon guidance|platelet activation|platelet degranulation|response to virus|Rho protein signal transduction cytoplasm|cytoskeleton|nuclear matrix actin binding breast(1)|kidney(1)|large_intestine(2)|lung(2) 6 READ - Rectum adenocarcinoma(159;0.169) TCATTTTGCTCTTAAGGGGCG 0.567000 25 104 0 0 1 0 0 ERBB3 2065 broad.mit.edu 37 12 56495610 56495610 + Missense_Mutation SNP G G A TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84504382-2f05-4a30-82a6-8f60599abe40 e93eb9c6-b20c-4560-82fc-1aac0deffffa g.chr12:56495610G>A ENST00000267101.3 + 28 4240 c.3800G>A c.(3799-3801)cGa>cAa p.R1267Q ERBB3_ENST00000549832.1_Missense_Mutation_p.R387Q|RP11-603J24.9_ENST00000548861.1_Intron|ERBB3_ENST00000415288.2_Missense_Mutation_p.R1208Q|ERBB3_ENST00000450146.2_Missense_Mutation_p.R624Q|ERBB3_ENST00000553131.1_Missense_Mutation_p.R508Q NM_001982.3 NP_001973.2 P21860 ERBB3_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3 1267 cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1) 8 OV - Ovarian serous cystadenocarcinoma(18;0.112) AATCGGCAACGAGATGGAGGT 0.547000 21 95 0 0 1 0 0 SFXN2 118980 broad.mit.edu 37 10 104497498 104497498 + Silent SNP C C G TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84504382-2f05-4a30-82a6-8f60599abe40 e93eb9c6-b20c-4560-82fc-1aac0deffffa g.chr10:104497498C>G ENST00000369893.5 + 12 1115 c.948C>G c.(946-948)gtC>gtG p.V316V NM_178858.4 NP_849189.1 Q96NB2 SFXN2_HUMAN sideroflexin 2 iron ion homeostasis integral to membrane cation transmembrane transporter activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|prostate(1) 13 Colorectal(252;0.207) Epithelial(162;4.53e-09)|all cancers(201;1.2e-07)|BRCA - Breast invasive adenocarcinoma(275;0.218) AGCCTTATGTCTACTTCAATA 0.458000 25 39 0 0 1 0 0 LRRC16A 55604 broad.mit.edu 37 6 25606472 25606472 + Missense_Mutation SNP C C T TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84504382-2f05-4a30-82a6-8f60599abe40 e93eb9c6-b20c-4560-82fc-1aac0deffffa g.chr6:25606472C>T ENST00000329474.6 + 35 4186 c.3818C>T c.(3817-3819)cCg>cTg p.P1273L NM_001173977.1|NM_017640.5 NP_001167448.1|NP_060110.4 Q5VZK9 LR16A_HUMAN leucine rich repeat containing 16A 1273 actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process cytosol|lamellipodium|nucleus breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 50 CCCGTCATCCCGCAGAAACCA 0.607000 8 23 0 0 1 0 0 FAM47A 158724 broad.mit.edu 37 X 34149314 34149314 + Missense_Mutation SNP C C T TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84504382-2f05-4a30-82a6-8f60599abe40 e93eb9c6-b20c-4560-82fc-1aac0deffffa g.chrX:34149314C>T ENST00000346193.3 - 1 1133 c.1082G>A c.(1081-1083)cGt>cAt p.R361H NM_203408.3 NP_981953.2 Q5JRC9 FA47A_HUMAN family with sequence similarity 47, member A 361 p.R361H(1) NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 97 TAGGCGGAGACGGGACACTCC 0.647000 18 76 0 0 1 0 0 RIMBP2 23504 broad.mit.edu 37 12 130897188 130897188 + Silent SNP G G A TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84504382-2f05-4a30-82a6-8f60599abe40 e93eb9c6-b20c-4560-82fc-1aac0deffffa g.chr12:130897188G>A ENST00000261655.4 - 15 2960 c.2797C>T c.(2797-2799)Ctg>Ttg p.L933L NM_015347.4 NP_056162.4 O15034 RIMB2_HUMAN RIMS binding protein 2 933 cell junction|synapse NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 96 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.213) OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05) GGTGTATTCAGAGGGAGAAAG 0.502000 19 52 0 0 1 0 0 FAM222B 55731 broad.mit.edu 37 17 27086464 27086464 + Silent SNP C C T TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84504382-2f05-4a30-82a6-8f60599abe40 e93eb9c6-b20c-4560-82fc-1aac0deffffa g.chr17:27086464C>T ENST00000341217.5 - 3 728 c.513G>A c.(511-513)acG>acA p.T171T FAM222B_ENST00000582059.1_3'UTR|FAM222B_ENST00000452648.3_Silent_p.T171T|FAM222B_ENST00000581407.1_Silent_p.T171T|FAM222B_ENST00000583953.1_3'UTR|FAM222B_ENST00000582266.1_3'UTR NM_018182.2 NP_060652.2 Q8WU58 CQ063_HUMAN family with sequence similarity 222, member B 171 Gln-rich. GGTGCTGCAGCGTCTGGGGAG 0.701000 3 18 0 0 1 0 0 CAMP 820 broad.mit.edu 37 3 48266789 48266789 + Missense_Mutation SNP A A G TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84504382-2f05-4a30-82a6-8f60599abe40 e93eb9c6-b20c-4560-82fc-1aac0deffffa g.chr3:48266789A>G ENST00000296435.2 + 4 553 c.397A>G c.(397-399)Aag>Gag p.K133E CAMP_ENST00000576243.1_Missense_Mutation_p.K130E NM_004345.4 NP_004336.3 P49913 CAMP_HUMAN cathelicidin antimicrobial peptide 130 killing by host of symbiont cells|negative regulation of growth of symbiont on or near host surface extracellular region endometrium(2)|large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 6 BRCA - Breast invasive adenocarcinoma(193;0.000614)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605) CCAGGATAACAAGAGATTTGC 0.478000 65 131 0 0 1 0 0 PPCS 79717 broad.mit.edu 37 1 42922314 42922314 + Silent SNP C C T TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84504382-2f05-4a30-82a6-8f60599abe40 e93eb9c6-b20c-4560-82fc-1aac0deffffa g.chr1:42922314C>T ENST00000372561.3 + 1 85 c.78C>T c.(76-78)ttC>ttT p.F26F PPCS_ENST00000372556.3_Intron|PPCS_ENST00000372560.3_Silent_p.F26F|PPCS_ENST00000372562.1_Intron|PPCS_ENST00000455780.1_Intron|PPCS_ENST00000472013.1_3'UTR NM_024664.2 NP_078940.2 Q9HAB8 PPCS_HUMAN phosphopantothenoylcysteine synthetase 26 coenzyme biosynthetic process|pantothenate metabolic process cytosol phosphopantothenate--cysteine ligase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|skin(3) 12 Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) TGGCTCGCTTCGCGGCCAGGC 0.706000 6 9 0 0 1 0 0 SLC22A16 85413 broad.mit.edu 37 6 110768177 110768177 + Missense_Mutation SNP C C T TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84504382-2f05-4a30-82a6-8f60599abe40 e93eb9c6-b20c-4560-82fc-1aac0deffffa g.chr6:110768177C>T ENST00000368919.3 - 3 616 c.550G>A c.(550-552)Gtc>Atc p.V184I SLC22A16_ENST00000456137.2_3'UTR|SLC22A16_ENST00000439654.1_Missense_Mutation_p.V184I|SLC22A16_ENST00000330550.4_Missense_Mutation_p.V150I NM_033125.3 NP_149116.2 Q86VW1 S22AG_HUMAN solute carrier family 22 (organic cation/carnitine transporter), member 16 184 acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis integral to membrane carnitine transporter activity breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 34 all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101) OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115) GCCCACAAGACCACCCGGCGT 0.443000 13 23 0 0 1 0 0 LRP10 26020 broad.mit.edu 37 14 23345175 23345175 + Missense_Mutation SNP G G A TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84504382-2f05-4a30-82a6-8f60599abe40 e93eb9c6-b20c-4560-82fc-1aac0deffffa g.chr14:23345175G>A ENST00000359591.4 + 5 1709 c.1018G>A c.(1018-1020)Ggc>Agc p.G340S LRP10_ENST00000546834.1_Missense_Mutation_p.G340S NM_014045.3 NP_054764.2 Q7Z4F1 LRP10_HUMAN low density lipoprotein receptor-related protein 10 340 LDL-receptor class A 2. endocytosis coated pit|integral to membrane central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2) 32 all_cancers(95;4.69e-05) GBM - Glioblastoma multiforme(265;0.00549) GCGCTGTGACGGCTCATGGGA 0.642000 17 29 0 0 1 0 0 ANKS1B 56899 broad.mit.edu 37 12 100200462 100200462 + Missense_Mutation SNP G G A TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84504382-2f05-4a30-82a6-8f60599abe40 e93eb9c6-b20c-4560-82fc-1aac0deffffa g.chr12:100200462G>A ENST00000547776.2 - 4 388 c.389C>T c.(388-390)aCt>aTt p.T130I ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000329257.7_Missense_Mutation_p.T130I NM_152788.4 NP_690001.3 Q7Z6G8 ANS1B_HUMAN ankyrin repeat and sterile alpha motif domain containing 1B 130 Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1) 70 all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209) OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06) GTGTAGGGCAGTTTCATTTTC 0.353000 11 22 0 0 1 0 0 EVI5 7813 broad.mit.edu 37 1 93101858 93101858 + Silent SNP C C T TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84504382-2f05-4a30-82a6-8f60599abe40 e93eb9c6-b20c-4560-82fc-1aac0deffffa g.chr1:93101858C>T ENST00000370331.1 - 12 1389 c.1380G>A c.(1378-1380)gtG>gtA p.V460V EVI5_ENST00000491940.1_5'UTR|EVI5_ENST00000543509.1_Silent_p.V471V|EVI5_ENST00000540033.1_Silent_p.V460V NM_005665.4 NP_005656.4 O60447 EVI5_HUMAN ecotropic viral integration site 5 460 Dimerization.|Interaction with alpha-tubulin, gamma- tubulin, BIRC5 and FBXO5.|Targeting to the centrosomes. cell cycle|cell division|cell proliferation|multicellular organismal development microtubule organizing center|nucleus|spindle protein binding|Rab GTPase activator activity breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1) 38 all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203) Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211) CTAGCTGTAGCACAAAATCTT 0.368000 27 75 0 0 1 0 0 PDE3A 5139 broad.mit.edu 37 12 20786633 20786633 + Silent SNP C C A TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84504382-2f05-4a30-82a6-8f60599abe40 e93eb9c6-b20c-4560-82fc-1aac0deffffa g.chr12:20786633C>A ENST00000359062.3 + 7 1807 c.1767C>A c.(1765-1767)ggC>ggA p.G589G PDE3A_ENST00000544307.1_3'UTR NM_000921.4|NM_001244683.1 NP_000912.3|NP_001231612.1 Q14432 PDE3A_HUMAN phosphodiesterase 3A, cGMP-inhibited 589 lipid metabolic process|platelet activation|signal transduction cytosol|integral to membrane 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 58 Esophageal squamous(101;0.125) Breast(259;0.134) Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277) TTAGCTGTGGCAGACCATATT 0.418000 7 8 2.0095e-06 2.07269e-06 1 1 0 RNF217-AS1 7955 broad.mit.edu 37 6 125233344 125233344 + RNA SNP G G A TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84504382-2f05-4a30-82a6-8f60599abe40 e93eb9c6-b20c-4560-82fc-1aac0deffffa g.chr6:125233344G>A ENST00000439075.1 - 0 1401 NR_026876.1 CATATCCCATGCCAGACACTC 0.363000 13 16 0 0 1 0 0 YEATS2 55689 broad.mit.edu 37 3 183442264 183442264 + Missense_Mutation SNP G G A TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84504382-2f05-4a30-82a6-8f60599abe40 e93eb9c6-b20c-4560-82fc-1aac0deffffa g.chr3:183442264G>A ENST00000305135.5 + 6 790 c.595G>A c.(595-597)Gat>Aat p.D199N NM_018023.4 NP_060493.3 Q9ULM3 YETS2_HUMAN YEATS domain containing 2 199 histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter Ada2/Gcn5/Ada3 transcription activator complex TBP-class protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3) 49 all_cancers(143;6.55e-10)|Ovarian(172;0.0303) all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) TGATCTCACAGATGAGACTTC 0.343000 8 24 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179640861 179640861 + Silent SNP C C T TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84504382-2f05-4a30-82a6-8f60599abe40 e93eb9c6-b20c-4560-82fc-1aac0deffffa g.chr2:179640861C>T ENST00000589042.1 - 28 5954 c.5730G>A c.(5728-5730)gtG>gtA p.V1910V TTN_ENST00000360870.5_Silent_p.V1910V|TTN_ENST00000359218.5_Silent_p.V1864V|TTN_ENST00000460472.2_Silent_p.V1864V|TTN_ENST00000342992.6_Silent_p.V1910V|TTN_ENST00000342175.6_Silent_p.V1864V|TTN_ENST00000591111.1_Silent_p.V1910V NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 1628 Ig-like 9. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CGGTGACCTTCACTTCACCTG 0.458000 24 92 0 0 1 0 0 ERMAP 114625 broad.mit.edu 37 1 43308816 43308816 + Silent SNP G G A TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84504382-2f05-4a30-82a6-8f60599abe40 e93eb9c6-b20c-4560-82fc-1aac0deffffa g.chr1:43308816G>A ENST00000328249.3 + 9 2109 c.1071G>A c.(1069-1071)ccG>ccA p.P357P RP11-342M1.3_ENST00000416809.2_RNA|ERMAP_ENST00000372514.3_Silent_p.P447P|ERMAP_ENST00000372517.2_Silent_p.P447P|ERMAP_ENST00000487556.1_3'UTR|RP11-342M1.3_ENST00000425076.1_RNA|RP11-342M1.3_ENST00000414798.1_RNA|RP11-342M1.3_ENST00000444563.1_RNA Q96PL5 ERMAP_HUMAN erythroblast membrane-associated protein (Scianna blood group) 447 B30.2/SPRY. Missing (in Sc-3 allele). integral to membrane|plasma membrane breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1) 11 Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) TACTACCCCCGAAGGCCCCAG 0.512000 33 64 0 0 1 0 0 ZNF382 84911 broad.mit.edu 37 19 37117098 37117098 + Missense_Mutation SNP C C A TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84504382-2f05-4a30-82a6-8f60599abe40 e93eb9c6-b20c-4560-82fc-1aac0deffffa g.chr19:37117098C>A ENST00000435416.1 + 3 1791 c.296C>A c.(295-297)cCc>cAc p.P99H ZNF382_ENST00000292928.2_Missense_Mutation_p.P100H|ZNF382_ENST00000423582.1_Missense_Mutation_p.P51H|ZNF382_ENST00000439428.1_Missense_Mutation_p.P99H Q96SR6 ZN382_HUMAN zinc finger protein 382 100 Mediates interaction with TRIM28 (By similarity).|Represses transcription (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4) 34 Esophageal squamous(110;0.198) COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065) CATTCTAGACCCCTCATATTC 0.333000 25 49 1.66031e-10 1.865e-10 1 1 0 C11orf48 79081 broad.mit.edu 37 11 62430726 62430726 + Missense_Mutation SNP C C G TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84504382-2f05-4a30-82a6-8f60599abe40 e93eb9c6-b20c-4560-82fc-1aac0deffffa g.chr11:62430726C>G ENST00000431002.2 - 4 2554 c.821G>C c.(820-822)aGa>aCa p.R274T C11orf48_ENST00000532208.1_Missense_Mutation_p.R248T|RP11-831H9.11_ENST00000528405.1_Missense_Mutation_p.E82Q|C11orf48_ENST00000354588.3_Missense_Mutation_p.R248T|C11orf48_ENST00000524958.1_Missense_Mutation_p.E82Q|C11orf48_ENST00000525675.1_Missense_Mutation_p.E82Q Q9BQE6 CK048_HUMAN chromosome 11 open reading frame 48 274 endometrium(1)|lung(5)|urinary_tract(1) 7 GCTGTCTTCTCTTTCTGGGCA 0.502000 21 50 0 0 1 0 0 NWD1 284434 broad.mit.edu 37 19 16918749 16918749 + Silent SNP C C G TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84504382-2f05-4a30-82a6-8f60599abe40 e93eb9c6-b20c-4560-82fc-1aac0deffffa g.chr19:16918749C>G ENST00000524140.2 + 18 4507 c.4089C>G c.(4087-4089)gtC>gtG p.V1363V NWD1_ENST00000552788.1_Silent_p.V1363V|NWD1_ENST00000549814.1_Silent_p.V1321V|NWD1_ENST00000523826.1_Silent_p.V1157V|NWD1_ENST00000339803.6_Silent_p.V1228V|NWD1_ENST00000379808.3_Silent_p.V1363V NM_001007525.3 NP_001007526.3 Q149M9 NWD1_HUMAN NACHT and WD repeat domain containing 1 1363 ATP binding NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 ACCGCGTGGTCTACAGCATGA 0.577000 57 111 0 0 1 0 0 VWA3B 200403 broad.mit.edu 37 2 98846528 98846528 + Silent SNP C C A TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84504382-2f05-4a30-82a6-8f60599abe40 e93eb9c6-b20c-4560-82fc-1aac0deffffa g.chr2:98846528C>A ENST00000477737.1 + 16 2370 c.2166C>A c.(2164-2166)atC>atA p.I722I NM_144992.4 NP_659429.4 Q502W6 VWA3B_HUMAN von Willebrand factor A domain containing 3B 722 NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 AAAAGGAAATCTGTTCTATGA 0.373000 19 57 2.94398e-08 3.1764e-08 1 1 0 ARID1A 8289 broad.mit.edu 37 1 27100390 27100390 + Splice_Site SNP G G A TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84504382-2f05-4a30-82a6-8f60599abe40 e93eb9c6-b20c-4560-82fc-1aac0deffffa g.chr1:27100390G>A ENST00000324856.7 + 17 4472 c.e17+1 ARID1A_ENST00000374152.2_Splice_Site|ARID1A_ENST00000457599.2_Splice_Site|ARID1A_ENST00000540690.1_Splice_Site NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 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 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) GCAACAGCAGGTGAGGAGGGT 0.483000 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 32 34 0 0 1 0 0 PIWIL4 143689 broad.mit.edu 37 11 94316728 94316728 + Missense_Mutation SNP T T C TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84504382-2f05-4a30-82a6-8f60599abe40 e93eb9c6-b20c-4560-82fc-1aac0deffffa g.chr11:94316728T>C ENST00000299001.6 + 5 839 c.628T>C c.(628-630)Ttc>Ctc p.F210L RP11-867G2.8_ENST00000536540.1_RNA|RP11-867G2.8_ENST00000537874.1_RNA NM_152431.2 NP_689644.2 Q7Z3Z4 PIWL4_HUMAN piwi-like RNA-mediated gene silencing 4 210 cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis nucleus|piP-body piRNA binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2) 30 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) CAATATCATCTTCAGAAAGTA 0.408000 45 94 0 0 1 0 0 CACNA1S 779 broad.mit.edu 37 1 201016693 201016693 + Silent SNP G G T TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84504382-2f05-4a30-82a6-8f60599abe40 e93eb9c6-b20c-4560-82fc-1aac0deffffa g.chr1:201016693G>T ENST00000362061.3 - 37 4729 c.4503C>A c.(4501-4503)acC>acA p.T1501T CACNA1S_ENST00000367338.3_Silent_p.T1482T NM_000069.2 NP_000060.2 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, alpha 1S subunit 1501 axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 102 Magnesium Sulfate(DB00653)|Verapamil(DB00661) GCTTCATGCTGGTTCTCTTCC 0.537000 21 54 5.35356e-11 6.05506e-11 1 1 0 TRRAP 8295 broad.mit.edu 37 7 98575861 98575861 + Missense_Mutation SNP G G A TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84504382-2f05-4a30-82a6-8f60599abe40 e93eb9c6-b20c-4560-82fc-1aac0deffffa g.chr7:98575861G>A ENST00000359863.4 + 56 8601 c.8392G>A c.(8392-8394)Gat>Aat p.D2798N TRRAP_ENST00000446306.3_Missense_Mutation_p.D2780N|TRRAP_ENST00000355540.3_Missense_Mutation_p.D2780N NM_001244580.1 NP_001231509.1 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated protein 2798 FAT. histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) AAAGGCAATGGATAAAGCCAA 0.368000 36 79 0 0 1 0 0 GBF1 8729 broad.mit.edu 37 10 104018760 104018760 + Missense_Mutation SNP G G A TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84504382-2f05-4a30-82a6-8f60599abe40 e93eb9c6-b20c-4560-82fc-1aac0deffffa g.chr10:104018760G>A ENST00000369983.3 + 2 325 c.65G>A c.(64-66)cGa>cAa p.R22Q NM_001199378.1|NM_001199379.1|NM_004193.2 NP_001186307.1|NP_001186308.1|NP_004184.1 Q92538 GBF1_HUMAN golgi brefeldin A resistant guanine nucleotide exchange factor 1 22 COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane ARF guanyl-nucleotide exchange factor activity|protein binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 71 Colorectal(252;0.0236) Epithelial(162;5.16e-08)|all cancers(201;1.19e-06) GCCATCAAACGAAATGCCCGA 0.413000 42 84 0 0 1 0 0 FBXO46 23403 broad.mit.edu 37 19 46216164 46216164 + Missense_Mutation SNP G G A TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84504382-2f05-4a30-82a6-8f60599abe40 e93eb9c6-b20c-4560-82fc-1aac0deffffa g.chr19:46216164G>A ENST00000317683.3 - 2 723 c.590C>T c.(589-591)gCg>gTg p.A197V NM_001080469.1 NP_001073938.1 Q6PJ61 FBX46_HUMAN F-box protein 46 197 protein binding breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1) 15 Ovarian(192;0.179)|all_neural(266;0.224) OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201) GACTACAGGCGCTGGGGTGGT 0.687000 5 9 0 0 1 0 0 TXLNB 167838 broad.mit.edu 37 6 139609977 139609977 + Missense_Mutation SNP G G T TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84504382-2f05-4a30-82a6-8f60599abe40 e93eb9c6-b20c-4560-82fc-1aac0deffffa g.chr6:139609977G>T ENST00000358430.3 - 2 292 c.60C>A c.(58-60)gaC>gaA p.D20E NM_153235.3 NP_694967.3 Q8N3L3 TXLNB_HUMAN taxilin beta 20 cytoplasm breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 37 OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235) ATGATGAACTGTCACCTGGAG 0.512000 14 50 9.31168e-06 9.48519e-06 1 1 0 NR1H3 10062 broad.mit.edu 37 11 47282943 47282943 + Silent SNP C C T TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84504382-2f05-4a30-82a6-8f60599abe40 e93eb9c6-b20c-4560-82fc-1aac0deffffa g.chr11:47282943C>T ENST00000467728.1 + 4 1889 c.651C>T c.(649-651)ctC>ctT p.L217L NR1H3_ENST00000395397.3_Silent_p.L172L|NR1H3_ENST00000529540.1_3'UTR|NR1H3_ENST00000405576.1_Silent_p.L172L|NR1H3_ENST00000481889.2_Silent_p.L172L|NR1H3_ENST00000407404.1_Silent_p.L217L|NR1H3_ENST00000527949.1_Silent_p.L126L|NR1H3_ENST00000405853.3_Silent_p.L217L|NR1H3_ENST00000441012.2_Silent_p.L217L Q13133 NR1H3_HUMAN nuclear receptor subfamily 1, group H, member 3 217 Ligand-binding (Potential). apoptotic cell clearance|cellular response to lipopolysaccharide|cholesterol homeostasis|negative regulation of cholesterol storage|negative regulation of inflammatory response|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of macrophage activation|negative regulation of pancreatic juice secretion|negative regulation of pinocytosis|negative regulation of secretion of lysosomal enzymes|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of cholesterol homeostasis|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor biosynthetic process|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of circadian rhythm|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to progesterone stimulus|triglyceride homeostasis nuclear chromatin|nucleoplasm cholesterol binding|steroid hormone receptor activity|sterol response element binding|transcription coactivator activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5) 20 TCGAGAAGCTCGTCGCTGCCC 0.627000 17 53 0 0 1 0 0 YWHAZ 7534 broad.mit.edu 37 8 101960935 101960935 + Silent SNP G G A TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84504382-2f05-4a30-82a6-8f60599abe40 e93eb9c6-b20c-4560-82fc-1aac0deffffa g.chr8:101960935G>A ENST00000395957.2 - 3 524 c.183C>T c.(181-183)gtC>gtT p.V61V YWHAZ_ENST00000395958.2_Silent_p.V61V|YWHAZ_ENST00000353245.3_Silent_p.V61V|YWHAZ_ENST00000419477.2_Silent_p.V61V|YWHAZ_ENST00000395956.3_Silent_p.V61V|YWHAZ_ENST00000395953.2_Silent_p.V61V|YWHAZ_ENST00000395951.3_Silent_p.V61V|YWHAZ_ENST00000457309.1_Silent_p.V61V|YWHAZ_ENST00000395948.2_5'UTR|YWHAZ_ENST00000521309.1_Intron P63104 1433Z_HUMAN tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta polypeptide 61 anti-apoptosis|mRNA metabolic process|platelet activation|signal transduction cytosol|melanosome transcription factor binding large_intestine(1)|lung(2) 3 all_cancers(14;7.43e-06)|all_epithelial(15;2.77e-08)|Lung NSC(17;6.08e-05)|all_lung(17;0.000197) Epithelial(11;2.79e-11)|all cancers(13;5.45e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.75e-05) Ginkgo biloba(DB01381) TACTTGAGACGACCCTCCAAG 0.433000 51 569 0 0 1 0 0 LRRTM4 80059 broad.mit.edu 37 2 77745876 77745876 + Silent SNP C C A TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84504382-2f05-4a30-82a6-8f60599abe40 e93eb9c6-b20c-4560-82fc-1aac0deffffa g.chr2:77745876C>A ENST00000409088.3 - 3 1533 c.1119G>T c.(1117-1119)ctG>ctT p.L373L LRRTM4_ENST00000409093.1_Silent_p.L373L|LRRTM4_ENST00000409282.1_Silent_p.L374L|LRRTM4_ENST00000409884.1_Silent_p.L373L|LRRTM4_ENST00000409911.1_Silent_p.L374L NM_001282928.1|NM_024993.4 NP_001269857.1|NP_079269.4 Q86VH4 LRRT4_HUMAN leucine rich repeat transmembrane neuronal 4 373 integral to membrane autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1) 64 Colorectal(11;0.059) TTTGGGGCACCAGGTGTGATC 0.488000 11 18 7.03913e-09 7.69611e-09 1 1 0 ROBO4 54538 broad.mit.edu 37 11 124755144 124755144 + Splice_Site SNP C C T TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84504382-2f05-4a30-82a6-8f60599abe40 e93eb9c6-b20c-4560-82fc-1aac0deffffa g.chr11:124755144C>T ENST00000306534.3 - 17 3280 c.e17-1 RP11-664I21.5_ENST00000524453.1_RNA|ROBO4_ENST00000533054.1_Splice_Site NM_019055.5 NP_061928.4 Q8WZ75 ROBO4_HUMAN roundabout, axon guidance receptor, homolog 4 (Drosophila) angiogenesis|cell differentiation integral to membrane receptor activity 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) GATGAGGCATCTGTCAGGGAG 0.592000 7 28 0 0 1 0 0 EP300 2033 broad.mit.edu 37 22 41568577 41568577 + Missense_Mutation SNP G G T TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84504382-2f05-4a30-82a6-8f60599abe40 e93eb9c6-b20c-4560-82fc-1aac0deffffa g.chr22:41568577G>T ENST00000263253.7 + 28 5746 c.4527G>T c.(4525-4527)tgG>tgT p.W1509C RP1-85F18.6_ENST00000415054.1_RNA NM_001429.3 NP_001420.2 Q09472 EP300_HUMAN E1A binding protein p300 1509 apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16) 171 GTGATTTCTGGCCCAATGTTC 0.393000 """T, N, F, Mis, O""" """MLL, RUNXBP2""" """colorectal, breast, pancreatic, AML, ALL, DLBCL""" Rubinstein-Taybi syndrome 27 49 5.45727e-16 6.25869e-16 1 1 0 ZNF599 148103 broad.mit.edu 37 19 35249979 35249979 + Missense_Mutation SNP G G A TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84504382-2f05-4a30-82a6-8f60599abe40 e93eb9c6-b20c-4560-82fc-1aac0deffffa g.chr19:35249979G>A ENST00000329285.8 - 4 2100 c.1727C>T c.(1726-1728)tCa>tTa p.S576L NM_001007248.2 NP_001007249.1 Q96NL3 ZN599_HUMAN zinc finger protein 599 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1) 24 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) AGTGAACGATGAACTGTGGCT 0.413000 41 83 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126398433 126398433 + Silent SNP C C T TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84504382-2f05-4a30-82a6-8f60599abe40 e93eb9c6-b20c-4560-82fc-1aac0deffffa g.chr4:126398433C>T ENST00000394329.3 + 13 12430 c.12417C>T c.(12415-12417)gtC>gtT p.V4139V FAT4_ENST00000335110.5_Silent_p.V2402V NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 4139 Laminin G-like 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 AGTTTGCAGTCAATGGAAGGC 0.423000 44 54 0 0 1 0 0 PLD5 200150 broad.mit.edu 37 1 242511456 242511456 + Missense_Mutation SNP C C T TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84504382-2f05-4a30-82a6-8f60599abe40 e93eb9c6-b20c-4560-82fc-1aac0deffffa g.chr1:242511456C>T ENST00000536534.2 - 2 519 c.278G>A c.(277-279)gGa>gAa p.G93E PLD5_ENST00000442594.2_5'UTR|PLD5_ENST00000427495.1_Missense_Mutation_p.G31E Q8N7P1 PLD5_HUMAN phospholipase D family, member 5 integral to membrane catalytic activity breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1) 55 Melanoma(84;0.242) OV - Ovarian serous cystadenocarcinoma(106;0.0329) CTCATCCTCTCCCATGATGTC 0.453000 33 74 0 0 1 0 0 PHF14 9678 broad.mit.edu 37 7 11101608 11101608 + Silent SNP G G A TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84504382-2f05-4a30-82a6-8f60599abe40 e93eb9c6-b20c-4560-82fc-1aac0deffffa g.chr7:11101608G>A ENST00000403050.3 + 16 3002 c.2550G>A c.(2548-2550)gaG>gaA p.E850E PHF14_ENST00000445996.2_Silent_p.E565E NM_014660.3 NP_055475.2 O94880 PHF14_HUMAN PHD finger protein 14 850 zinc ion binding NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 35 UCEC - Uterine corpus endometrioid carcinoma (126;0.205) TTCCTAGAGAGAGAAGACAAA 0.358000 6 8 0 0 1 0 0 FLAD1 80308 broad.mit.edu 37 1 154965204 154965204 + Missense_Mutation SNP G G C TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84504382-2f05-4a30-82a6-8f60599abe40 e93eb9c6-b20c-4560-82fc-1aac0deffffa g.chr1:154965204G>C ENST00000292180.3 + 6 1892 c.1570G>C c.(1570-1572)Gac>Cac p.D524H FLAD1_ENST00000368432.1_Missense_Mutation_p.D427H|FLAD1_ENST00000368428.1_Missense_Mutation_p.D65H|FLAD1_ENST00000295530.2_Intron|FLAD1_ENST00000405236.2_Intron|FLAD1_ENST00000315144.10_Missense_Mutation_p.D427H NM_025207.4 NP_079483.3 Q8NFF5 FAD1_HUMAN flavin adenine dinucleotide synthetase 1 524 FAD synthase. FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cytosol ATP binding|FMN adenylyltransferase activity endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3) 22 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.00034) GACCTACAGAGACATCTGGGA 0.502000 32 82 0 0 1 0 0 CNOT10 25904 broad.mit.edu 37 3 32761640 32761640 + Missense_Mutation SNP A A G TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84504382-2f05-4a30-82a6-8f60599abe40 e93eb9c6-b20c-4560-82fc-1aac0deffffa g.chr3:32761640A>G ENST00000328834.5 + 8 1095 c.779A>G c.(778-780)gAg>gGg p.E260G CNOT10_ENST00000538368.1_Missense_Mutation_p.E32G|CNOT10_ENST00000454516.2_Missense_Mutation_p.E320G|CNOT10_ENST00000463697.1_3'UTR|CNOT10_ENST00000331889.6_Missense_Mutation_p.E260G NM_015442.2 NP_056257.1 Q9H9A5 CNOTA_HUMAN CCR4-NOT transcription complex, subunit 10 260 nuclear-transcribed mRNA poly(A) tail shortening cytosol protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(3) 23 AGCAATTTTGAGTACTTAAGA 0.318000 38 75 0 0 1 0 0 NBEA 26960 broad.mit.edu 37 13 35619479 35619479 + Nonsense_Mutation SNP C C T TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84504382-2f05-4a30-82a6-8f60599abe40 e93eb9c6-b20c-4560-82fc-1aac0deffffa g.chr13:35619479C>T ENST00000540320.1 + 4 1198 c.664C>T c.(664-666)Cag>Tag p.Q222* NBEA_ENST00000379939.2_Nonsense_Mutation_p.Q222*|NBEA_ENST00000310336.4_Nonsense_Mutation_p.Q222*|NBEA_ENST00000400445.3_Nonsense_Mutation_p.Q222* Q8NFP9 NBEA_HUMAN neurobeachin 222 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding p.Q222*(1) NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 108 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) AGTTCTTAATCAGATGCCACA 0.323000 3 10 0 0 1 0 0 TSSC2 650368 broad.mit.edu 37 11 3427759 3427759 + RNA SNP C C T TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84504382-2f05-4a30-82a6-8f60599abe40 e93eb9c6-b20c-4560-82fc-1aac0deffffa g.chr11:3427759C>T ENST00000529482.1 + 0 876 TGTCTGCACACGTCCTGCAGT 0.612000 3 46 0 0 1 0 0 ZKSCAN5 23660 broad.mit.edu 37 7 99129532 99129532 + Missense_Mutation SNP G G A TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84504382-2f05-4a30-82a6-8f60599abe40 e93eb9c6-b20c-4560-82fc-1aac0deffffa g.chr7:99129532G>A ENST00000394170.2 + 7 2431 c.2180G>A c.(2179-2181)gGt>gAt p.G727D ZKSCAN5_ENST00000451158.1_Missense_Mutation_p.G727D|ZKSCAN5_ENST00000326775.5_Missense_Mutation_p.G727D NM_014569.3 NP_055384.1 Q9Y2L8 ZKSC5_HUMAN zinc finger with KRAB and SCAN domains 5 727 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 21 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) AAAGCCTTTGGTTATAGCTCA 0.413000 40 77 0 0 1 0 0 USP34 9736 broad.mit.edu 37 2 61597522 61597522 + Missense_Mutation SNP C C G TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84504382-2f05-4a30-82a6-8f60599abe40 e93eb9c6-b20c-4560-82fc-1aac0deffffa g.chr2:61597522C>G ENST00000398571.2 - 10 1261 c.1185G>C c.(1183-1185)ttG>ttC p.L395F NM_014709.3 NP_055524.3 Q70CQ2 UBP34_HUMAN ubiquitin specific peptidase 34 395 positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2) 138 Epithelial(17;0.229) CCAAAAAATTCAAAATCACTT 0.328000 28 109 0 0 1 0 0 ZNF599 148103 broad.mit.edu 37 19 35250691 35250691 + Missense_Mutation SNP A A T TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84504382-2f05-4a30-82a6-8f60599abe40 e93eb9c6-b20c-4560-82fc-1aac0deffffa g.chr19:35250691A>T ENST00000329285.8 - 4 1388 c.1015T>A c.(1015-1017)Tat>Aat p.Y339N NM_001007248.2 NP_001007249.1 Q96NL3 ZN599_HUMAN zinc finger protein 599 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.Y339fs*1(1) endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1) 24 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) CCGCACTCATAGAGTTTCTTT 0.413000 19 24 0 0 1 0 0 PLEC 5339 broad.mit.edu 37 8 144994565 144994565 + Missense_Mutation SNP C C T TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84504382-2f05-4a30-82a6-8f60599abe40 e93eb9c6-b20c-4560-82fc-1aac0deffffa g.chr8:144994565C>T ENST00000322810.4 - 32 10004 c.9835G>A c.(9835-9837)Ggc>Agc p.G3279S PLEC_ENST00000398774.2_Missense_Mutation_p.G3110S|PLEC_ENST00000345136.3_Missense_Mutation_p.G3142S|PLEC_ENST00000357649.2_Missense_Mutation_p.G3146S|PLEC_ENST00000354589.3_Missense_Mutation_p.G3142S|PLEC_ENST00000354958.2_Missense_Mutation_p.G3120S|PLEC_ENST00000527096.1_Missense_Mutation_p.G3165S|PLEC_ENST00000356346.3_Missense_Mutation_p.G3128S|PLEC_ENST00000436759.2_Missense_Mutation_p.G3169S NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 3279 Globular 2. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 TCCACGATGCCGCCCGTGGAC 0.692000 8 16 0 0 1 0 0 EPHA7 2045 broad.mit.edu 37 6 93979266 93979266 + Missense_Mutation SNP G G C TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84504382-2f05-4a30-82a6-8f60599abe40 e93eb9c6-b20c-4560-82fc-1aac0deffffa g.chr6:93979266G>C ENST00000369303.4 - 7 1746 c.1562C>G c.(1561-1563)gCt>gGt p.A521G NM_004440.3 NP_004431.1 Q15375 EPHA7_HUMAN EPH receptor A7 521 Fibronectin type-III 2. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1) 112 all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142) BRCA - Breast invasive adenocarcinoma(108;0.0847) TCCATAACCAGCAGCAGTAAA 0.408000 10 64 0 0 1 0 0 ZNF733P 643955 broad.mit.edu 37 7 62752443 62752443 + RNA SNP G G C TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84504382-2f05-4a30-82a6-8f60599abe40 e93eb9c6-b20c-4560-82fc-1aac0deffffa g.chr7:62752443G>C ENST00000331425.6 - 0 992 NR_003952.1 CTTATGTCTAGTAAGGTTTGA 0.438000 3 52 0 0 1 0 0 BCOR 54880 broad.mit.edu 37 X 39934052 39934052 + Missense_Mutation SNP C C T TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84504382-2f05-4a30-82a6-8f60599abe40 e93eb9c6-b20c-4560-82fc-1aac0deffffa g.chrX:39934052C>T ENST00000342274.4 - 4 909 c.547G>A c.(547-549)Ggt>Agt p.G183S BCOR_ENST00000397354.3_Missense_Mutation_p.G183S|BCOR_ENST00000378444.4_Missense_Mutation_p.G183S|BCOR_ENST00000378455.4_Missense_Mutation_p.G183S NM_001123383.1 NP_001116855.1 Q6W2J9 BCOR_HUMAN BCL6 corepressor 183 heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent nucleus heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 126 TAACTAGCACCATTGATGTTG 0.532000 """F, N, S, T""" RARA """retinoblastoma, AML, APL(translocation)""" oculo-facio-cardio-dental genetic 41 52 0 0 1 0 0 PPP1R3A 5506 broad.mit.edu 37 7 113519717 113519717 + Missense_Mutation SNP A A T TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84504382-2f05-4a30-82a6-8f60599abe40 e93eb9c6-b20c-4560-82fc-1aac0deffffa g.chr7:113519717A>T ENST00000284601.3 - 4 1498 c.1430T>A c.(1429-1431)aTt>aAt p.I477N NM_002711.3 NP_002702.2 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory subunit 3A 477 glycogen metabolic process integral to membrane NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2) 121 TTTTACTTCAATATTTTTAGC 0.393000 26 56 0 0 1 0 0 KCNH2 3757 broad.mit.edu 37 7 150654541 150654541 + Silent SNP G G A TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84504382-2f05-4a30-82a6-8f60599abe40 e93eb9c6-b20c-4560-82fc-1aac0deffffa g.chr7:150654541G>A ENST00000392968.2 - 3 1798 c.678C>T c.(676-678)tcC>tcT p.S226S KCNH2_ENST00000262186.5_Silent_p.S322S|KCNH2_ENST00000430723.3_Silent_p.S322S Q12809 KCNH2_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 2 322 blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent voltage-gated potassium channel complex delayed rectifier potassium channel activity|two-component sensor activity NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 42 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661) GCACGAGGTCGGAGTCCGAGG 0.642000 18 8 0 0 1 0 0 FIG4 9896 broad.mit.edu 37 6 110110855 110110855 + Missense_Mutation SNP G G A TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84504382-2f05-4a30-82a6-8f60599abe40 e93eb9c6-b20c-4560-82fc-1aac0deffffa g.chr6:110110855G>A ENST00000230124.3 + 19 2279 c.2155G>A c.(2155-2157)Gat>Aat p.D719N FIG4_ENST00000441478.2_Missense_Mutation_p.D442N NM_014845.5 NP_055660.1 Q92562 FIG4_HUMAN FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae) 719 cell death endosome membrane protein binding central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2) 32 all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548) OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079) GCGTAAACCAGATGAAACTGG 0.338000 6 32 0 0 1 0 0 MYH4 4622 broad.mit.edu 37 17 10353809 10353809 + Missense_Mutation SNP G G A TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84504382-2f05-4a30-82a6-8f60599abe40 e93eb9c6-b20c-4560-82fc-1aac0deffffa g.chr17:10353809G>A ENST00000255381.2 - 30 4252 c.4142C>T c.(4141-4143)aCg>aTg p.T1381M RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 1381 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 GATGGCGTCCGTCTCGTACTT 0.542000 14 119 0 0 1 0 0 YEATS4 8089 broad.mit.edu 37 12 69759433 69759433 + Missense_Mutation SNP G G T TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84504382-2f05-4a30-82a6-8f60599abe40 e93eb9c6-b20c-4560-82fc-1aac0deffffa g.chr12:69759433G>T ENST00000247843.2 + 3 462 c.192G>T c.(190-192)aaG>aaT p.K64N YEATS4_ENST00000548020.1_Intron NM_006530.2 NP_006521.1 O95619 YETS4_HUMAN YEATS domain containing 4 64 YEATS. histone H2A acetylation|histone H4 acetylation|mitosis|positive regulation of transcription, DNA-dependent|regulation of growth NuA4 histone acetyltransferase complex|nuclear matrix DNA binding|protein C-terminus binding|sequence-specific DNA binding transcription factor activity|structural constituent of cytoskeleton breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(1) 5 all_epithelial(5;9.25e-35)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187) Epithelial(6;6.89e-18)|BRCA - Breast invasive adenocarcinoma(5;3.14e-09)|Lung(24;9.68e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|OV - Ovarian serous cystadenocarcinoma(12;0.00691)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.24)|Kidney(9;0.241) CATATGTGAAGAAAATCCAGT 0.289000 53 183 1.67886e-27 1.98081e-27 1 1 0 UBXN7 26043 broad.mit.edu 37 3 196095002 196095002 + Missense_Mutation SNP T T C TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84504382-2f05-4a30-82a6-8f60599abe40 e93eb9c6-b20c-4560-82fc-1aac0deffffa g.chr3:196095002T>C ENST00000296328.4 - 8 805 c.731A>G c.(730-732)cAg>cGg p.Q244R UBXN7_ENST00000428095.1_Missense_Mutation_p.Q82R|UBXN7_ENST00000535858.1_Missense_Mutation_p.Q96R NM_015562.1 NP_056377.1 O94888 UBXN7_HUMAN UBX domain protein 7 244 protein binding NS(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 18 TACATCTAACTGGTGCCATTC 0.393000 17 60 0 0 1 0 0 SPICE1 152185 broad.mit.edu 37 3 113172514 113172514 + Silent SNP G G A TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84504382-2f05-4a30-82a6-8f60599abe40 e93eb9c6-b20c-4560-82fc-1aac0deffffa g.chr3:113172514G>A ENST00000295872.4 - 14 2200 c.1941C>T c.(1939-1941)ctC>ctT p.L647L NM_144718.3 NP_653319.1 Q8N0Z3 SPICE_HUMAN spindle and centriole associated protein 1 647 cell division|mitosis centriole|spindle protein binding NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1) 33 CCAGTACTGGGAGCTCTTCTG 0.443000 16 96 0 0 1 0 0 SCN1B 6324 broad.mit.edu 37 19 35524618 35524618 + Silent SNP G G A TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84504382-2f05-4a30-82a6-8f60599abe40 e93eb9c6-b20c-4560-82fc-1aac0deffffa g.chr19:35524618G>A ENST00000262631.5 + 3 560 c.423G>A c.(421-423)aaG>aaA p.K141K SCN1B_ENST00000415950.3_Silent_p.K141K|SCN1B_ENST00000595652.1_Silent_p.K70K|SCN1B_ENST00000596348.1_3'UTR NM_001037.4 NP_001028.1 Q07699 SCN1B_HUMAN sodium channel, voltage-gated, type I, beta subunit 141 Ig-like C2-type. axon guidance|synaptic transmission integral to membrane voltage-gated sodium channel activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3) 11 all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) TCGTCAAGAAGATCCACATTG 0.572000 27 60 0 0 1 0 0 EEF1A1 1915 broad.mit.edu 37 6 74227631 74227631 + Missense_Mutation SNP G G C TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84504382-2f05-4a30-82a6-8f60599abe40 e93eb9c6-b20c-4560-82fc-1aac0deffffa g.chr6:74227631G>C ENST00000316292.9 - 7 2282 c.1291C>G c.(1291-1293)Cag>Gag p.Q431E EEF1A1_ENST00000331523.2_Missense_Mutation_p.Q431E|EEF1A1_ENST00000491404.1_Intron|EEF1A1_ENST00000309268.6_Missense_Mutation_p.Q431E NM_001402.5 NP_001393.1 P68104 EF1A1_HUMAN eukaryotic translation elongation factor 1 alpha 1 431 cytosol|eukaryotic translation elongation factor 1 complex GTP binding|GTPase activity|protein binding|translation elongation factor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3) 18 GCAACTGTCTGTCTCATATCA 0.403000 OREG0003893 type=REGULATORY REGION|Gene=BC038897|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 15 58 0 0 1 0 0 MYH11 4629 broad.mit.edu 37 16 15811165 15811165 + Missense_Mutation SNP G G A TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84504382-2f05-4a30-82a6-8f60599abe40 e93eb9c6-b20c-4560-82fc-1aac0deffffa g.chr16:15811165G>A ENST00000452625.2 - 39 5444 c.5357C>T c.(5356-5358)aCg>aTg p.T1786M MYH11_ENST00000396324.3_Missense_Mutation_p.T1786M|MYH11_ENST00000300036.5_Missense_Mutation_p.T1779M|MYH11_ENST00000576790.2_Missense_Mutation_p.T1779M|NDE1_ENST00000396354.1_Intron|NDE1_ENST00000396355.1_Intron|NDE1_ENST00000342673.5_Intron NM_001040113.1 NP_001035202.1 P35749 MYH11_HUMAN myosin, heavy chain 11, smooth muscle 1779 A -> S (in Ref. 5; CAA49154). axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction cytosol|melanosome|muscle myosin complex|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1) 123 CTTCTGGGCCGTGCTGCGCTC 0.642000 T CBFB AML 19 90 0 0 1 0 0 ZBTB20 26137 broad.mit.edu 37 3 114069542 114069542 + Silent SNP C C T TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84504382-2f05-4a30-82a6-8f60599abe40 e93eb9c6-b20c-4560-82fc-1aac0deffffa g.chr3:114069542C>T ENST00000462705.1 - 11 1985 c.1164G>A c.(1162-1164)tcG>tcA p.S388S ZBTB20_ENST00000474710.1_Silent_p.S461S|ZBTB20_ENST00000464560.1_Silent_p.S388S|ZBTB20_ENST00000471418.1_Silent_p.S388S|ZBTB20_ENST00000393785.2_Silent_p.S388S|ZBTB20_ENST00000481632.1_Silent_p.S388S|ZBTB20_ENST00000357258.3_Silent_p.S388S NM_001164343.1 NP_001157815.1 Q9HC78 ZBT20_HUMAN zinc finger and BTB domain containing 20 461 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 48 LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191) ACGTGTTGACCGAAGGCTGTT 0.547000 33 56 0 0 1 0 0 GRIK2 2898 broad.mit.edu 37 6 102124605 102124605 + Missense_Mutation SNP G G C TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84504382-2f05-4a30-82a6-8f60599abe40 e93eb9c6-b20c-4560-82fc-1aac0deffffa g.chr6:102124605G>C ENST00000369138.1 + 4 1139 c.649G>C c.(649-651)Gaa>Caa p.E217Q GRIK2_ENST00000369134.4_Missense_Mutation_p.E168Q|GRIK2_ENST00000318991.6_Missense_Mutation_p.E217Q|GRIK2_ENST00000421544.1_Missense_Mutation_p.E217Q|GRIK2_ENST00000413795.1_Missense_Mutation_p.E217Q|GRIK2_ENST00000369137.3_Missense_Mutation_p.E217Q|GRIK2_ENST00000358361.3_Missense_Mutation_p.E217Q NM_001166247.1 NP_001159719.1 Q13002 GRIK2_HUMAN glutamate receptor, ionotropic, kainate 2 217 glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity p.E217*(2)|p.E217K(2) NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14) all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206) L-Glutamic Acid(DB00142) CTTACTAAAAGAAATGAAAAG 0.363000 8 45 0 0 1 0 0 UGT2B11 10720 broad.mit.edu 37 4 70066403 70066403 + Nonsense_Mutation SNP G G A TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84504382-2f05-4a30-82a6-8f60599abe40 e93eb9c6-b20c-4560-82fc-1aac0deffffa g.chr4:70066403G>A ENST00000446444.1 - 6 1353 c.1345C>T c.(1345-1347)Caa>Taa p.Q449* RP11-704M14.1_ENST00000505646.1_RNA|RP11-704M14.1_ENST00000504301.1_RNA NM_001073.1 NP_001064.1 O75310 UDB11_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B11 449 estrogen metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 42 TGATCATGTTGAATTCTTGAT 0.378000 49 105 0 0 1 0 0 IFI16 3428 broad.mit.edu 37 1 158984508 158984508 + Missense_Mutation SNP G G T TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84504382-2f05-4a30-82a6-8f60599abe40 e93eb9c6-b20c-4560-82fc-1aac0deffffa g.chr1:158984508G>T ENST00000295809.7 + 2 293 c.38G>T c.(37-39)gGa>gTa p.G13V IFI16_ENST00000448393.2_Missense_Mutation_p.G13V|IFI16_ENST00000368131.4_Missense_Mutation_p.G13V|IFI16_ENST00000359709.3_Missense_Mutation_p.G13V|IFI16_ENST00000340979.6_Missense_Mutation_p.G13V|IFI16_ENST00000430894.2_Missense_Mutation_p.G17V|IFI16_ENST00000368132.3_Missense_Mutation_p.G13V Q16666 IF16_HUMAN interferon, gamma-inducible protein 16 13 DAPIN.|Lys-rich. cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent cytoplasm|nuclear speck|nucleolus double-stranded DNA binding|protein binding cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all_hematologic(112;0.0429) CTACTAAAAGGATTAGAGGTC 0.299000 20 53 5.03518e-11 5.73451e-11 1 1 0 NOM1 64434 broad.mit.edu 37 7 156756610 156756610 + Missense_Mutation SNP G G C TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84504382-2f05-4a30-82a6-8f60599abe40 e93eb9c6-b20c-4560-82fc-1aac0deffffa g.chr7:156756610G>C ENST00000275820.3 + 7 1938 c.1923G>C c.(1921-1923)aaG>aaC p.K641N NM_138400.1 NP_612409.1 Q5C9Z4 NOM1_HUMAN nucleolar protein with MIF4G domain 1 641 RNA metabolic process nucleolus protein binding endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 31 Ovarian(565;0.218) all_hematologic(28;0.0749) OV - Ovarian serous cystadenocarcinoma(82;0.00301) UCEC - Uterine corpus endometrioid carcinoma (81;0.169) TCAGTTCAAAGATCCTAGAAC 0.453000 14 21 0 0 1 0 0 SFSWAP 6433 broad.mit.edu 37 12 132249157 132249157 + Missense_Mutation SNP C C T TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84504382-2f05-4a30-82a6-8f60599abe40 e93eb9c6-b20c-4560-82fc-1aac0deffffa g.chr12:132249157C>T ENST00000261674.4 + 12 2018 c.1877C>T c.(1876-1878)gCa>gTa p.A626V SFSWAP_ENST00000541286.1_Missense_Mutation_p.A626V NM_004592.3 NP_004583.2 Q12872 SFSWA_HUMAN splicing factor, suppressor of white-apricot homolog (Drosophila) 626 mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding|RNA binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2) 25 ACTAACCCAGCAGTTGCCCCA 0.428000 11 60 0 0 1 0 0 NES 10763 broad.mit.edu 37 1 156640778 156640778 + Missense_Mutation SNP C C T TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84504382-2f05-4a30-82a6-8f60599abe40 e93eb9c6-b20c-4560-82fc-1aac0deffffa g.chr1:156640778C>T ENST00000368223.3 - 4 3334 c.3202G>A c.(3202-3204)Gaa>Aaa p.E1068K NM_006617.1 NP_006608.1 P48681 NEST_HUMAN nestin 1068 Tail. brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation cytoplasm|intermediate filament intermediate filament binding|structural molecule activity central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4) 64 all_hematologic(923;0.088)|Hepatocellular(266;0.158) ACATCATCTTCCACCAGGGGC 0.677000 16 39 0 0 1 0 0 PIGZ 80235 broad.mit.edu 37 3 196675227 196675227 + Nonsense_Mutation SNP C C A TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84504382-2f05-4a30-82a6-8f60599abe40 e93eb9c6-b20c-4560-82fc-1aac0deffffa g.chr3:196675227C>A ENST00000412723.1 - 3 687 c.541G>T c.(541-543)Gag>Tag p.E181* PIGZ_ENST00000443835.1_Missense_Mutation_p.L77F NM_025163.2 NP_079439.2 Q86VD9 PIGZ_HUMAN phosphatidylinositol glycan anchor biosynthesis, class Z 181 GPI anchor biosynthetic process integral to membrane|intrinsic to endoplasmic reticulum membrane alpha-1,2-mannosyltransferase activity breast(1)|endometrium(1)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1) 14 all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838) Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00603) AGGAGTCCCTCAATGGTGTTG 0.652000 24 69 1.9806e-07 2.08217e-07 1 1 0 FOXP1 27086 broad.mit.edu 37 3 71021818 71021818 + Missense_Mutation SNP G G A TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84504382-2f05-4a30-82a6-8f60599abe40 e93eb9c6-b20c-4560-82fc-1aac0deffffa g.chr3:71021818G>A ENST00000318789.4 - 18 2065 c.1540C>T c.(1540-1542)Cgt>Tgt p.R514C FOXP1_ENST00000491238.1_Missense_Mutation_p.R516C|FOXP1_ENST00000468577.1_Intron|FOXP1_ENST00000493089.1_Missense_Mutation_p.R513C|FOXP1_ENST00000475937.1_Missense_Mutation_p.R514C|FOXP1_ENST00000484350.1_Missense_Mutation_p.R438C|FOXP1_ENST00000498215.1_Missense_Mutation_p.R514C NM_001244810.1|NM_001244813.1|NM_032682.5 NP_001231739.1|NP_001231742.1|NP_116071.2 Q9H334 FOXP1_HUMAN forkhead box P1 514 cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding p.R514C(1) breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209) BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05) AGATTATGACGCACTGCATTC 0.383000 T PAX5 ALL 26 24 0 0 1 0 0 ZNF217 7764 broad.mit.edu 37 20 52193023 52193023 + Missense_Mutation SNP C C A TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84504382-2f05-4a30-82a6-8f60599abe40 e93eb9c6-b20c-4560-82fc-1aac0deffffa g.chr20:52193023C>A ENST00000371471.2 - 4 2705 c.2280G>T c.(2278-2280)ttG>ttT p.L760F ZNF217_ENST00000302342.3_Missense_Mutation_p.L760F O75362 ZN217_HUMAN zinc finger protein 217 760 negative regulation of transcription, DNA-dependent histone deacetylase complex protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398) BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198) CTTTTCCCAGCAACGCTGGCG 0.522000 20 130 4.96729e-08 5.28984e-08 1 1 0 SFXN2 118980 broad.mit.edu 37 10 104497516 104497516 + Silent SNP C C G TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84504382-2f05-4a30-82a6-8f60599abe40 e93eb9c6-b20c-4560-82fc-1aac0deffffa g.chr10:104497516C>G ENST00000369893.5 + 12 1133 c.966C>G c.(964-966)ctC>ctG p.L322L NM_178858.4 NP_849189.1 Q96NB2 SFXN2_HUMAN sideroflexin 2 iron ion homeostasis integral to membrane cation transmembrane transporter activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|prostate(1) 13 Colorectal(252;0.207) Epithelial(162;4.53e-09)|all cancers(201;1.2e-07)|BRCA - Breast invasive adenocarcinoma(275;0.218) ATAAGGGTCTCTAAATGCCCC 0.478000 17 33 0 0 1 0 0 SIRPA 140885 broad.mit.edu 37 20 1918079 1918079 + Silent SNP G G A rs143207818 byFrequency TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84504382-2f05-4a30-82a6-8f60599abe40 e93eb9c6-b20c-4560-82fc-1aac0deffffa g.chr20:1918079G>A ENST00000358771.4 + 8 1532 c.1380G>A c.(1378-1380)ccG>ccA p.P460P SIRPA_ENST00000356025.3_Silent_p.P460P|SIRPA_ENST00000400068.3_Silent_p.P464P NM_001040023.1 NP_001035112.1 P78324 SHPS1_HUMAN signal-regulatory protein alpha 460 P -> L. blood coagulation|cell adhesion|cell junction assembly|leukocyte migration integral to membrane|plasma membrane SH3 domain binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 21 Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556) AGACCAGCCCGCAGCCCGCGT 0.637000 32 48 0 0 1 0 0 ZC3H3 23144 broad.mit.edu 37 8 144522352 144522352 + Missense_Mutation SNP A A T TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84504382-2f05-4a30-82a6-8f60599abe40 e93eb9c6-b20c-4560-82fc-1aac0deffffa g.chr8:144522352A>T ENST00000262577.5 - 11 2705 c.2674T>A c.(2674-2676)Tct>Act p.S892T NM_015117.2 NP_055932.2 Q8IXZ2 ZC3H3_HUMAN zinc finger CCCH-type containing 3 892 mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus nucleus nucleic acid binding|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 23 all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107) TCCTGGAGAGATGGTGCCTCG 0.652000 7 13 0 0 1 0 0 LRRTM4 80059 broad.mit.edu 37 2 77745875 77745875 + Missense_Mutation SNP C C A TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84504382-2f05-4a30-82a6-8f60599abe40 e93eb9c6-b20c-4560-82fc-1aac0deffffa g.chr2:77745875C>A ENST00000409088.3 - 3 1534 c.1120G>T c.(1120-1122)Gtg>Ttg p.V374L LRRTM4_ENST00000409093.1_Missense_Mutation_p.V374L|LRRTM4_ENST00000409282.1_Missense_Mutation_p.V375L|LRRTM4_ENST00000409884.1_Missense_Mutation_p.V374L|LRRTM4_ENST00000409911.1_Missense_Mutation_p.V375L NM_001282928.1|NM_024993.4 NP_001269857.1|NP_079269.4 Q86VH4 LRRT4_HUMAN leucine rich repeat transmembrane neuronal 4 374 integral to membrane autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1) 64 Colorectal(11;0.059) GTTTGGGGCACCAGGTGTGAT 0.488000 11 18 7.03913e-09 7.69611e-09 1 1 0 SCN11A 11280 broad.mit.edu 37 3 38888782 38888782 + Silent SNP G G C TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84504382-2f05-4a30-82a6-8f60599abe40 e93eb9c6-b20c-4560-82fc-1aac0deffffa g.chr3:38888782G>C ENST00000450244.1 - 26 4977 c.4779C>G c.(4777-4779)ctC>ctG p.L1593L SCN11A_ENST00000456224.3_Silent_p.L1555L|SCN11A_ENST00000302328.3_Silent_p.L1593L Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 1593 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) TGACAACAATGAGAAAGGAGA 0.403000 25 48 0 0 1 0 0 DMD 1756 broad.mit.edu 37 X 31950195 31950195 + Splice_Site SNP A A T TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84504382-2f05-4a30-82a6-8f60599abe40 e93eb9c6-b20c-4560-82fc-1aac0deffffa g.chrX:31950195A>T ENST00000357033.4 - 46 6969 c.e46+1 DMD_ENST00000378677.2_Splice_Site|DMD_ENST00000541735.1_Splice_Site|DMD_ENST00000343523.2_Splice_Site|DMD_ENST00000474231.1_Splice_Site|DMD_ENST00000378707.3_Splice_Site|DMD_ENST00000359836.1_Splice_Site NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2 NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1 P11532 DMD_HUMAN dystrophin muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) AAATAAAATTACCTTGACTTG 0.358000 13 60 0 0 1 0 0 CDH15 1013 broad.mit.edu 37 16 89257807 89257807 + Missense_Mutation SNP G G C TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84504382-2f05-4a30-82a6-8f60599abe40 e93eb9c6-b20c-4560-82fc-1aac0deffffa g.chr16:89257807G>C ENST00000289746.2 + 9 1367 c.1302G>C c.(1300-1302)caG>caC p.Q434H NM_004933.2 NP_004924.1 P55291 CAD15_HUMAN cadherin 15, type 1, M-cadherin (myotubule) 434 Cadherin 4. adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation integral to membrane|plasma membrane calcium ion binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 18 BRCA - Breast invasive adenocarcinoma(80;0.0261) TCCAGACCCAGCACGTGCTCA 0.672000 19 53 0 0 1 0 0 HGS 9146 broad.mit.edu 37 17 79657758 79657758 + Missense_Mutation SNP G G T TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84504382-2f05-4a30-82a6-8f60599abe40 e93eb9c6-b20c-4560-82fc-1aac0deffffa g.chr17:79657758G>T ENST00000329138.4 + 7 658 c.523G>T c.(523-525)Gtg>Ttg p.V175L NM_004712.4 NP_004703.1 O14964 HGS_HUMAN hepatocyte growth factor-regulated tyrosine kinase substrate 175 cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of JAK-STAT cascade|regulation of protein catabolic process cytosol|early endosome membrane|multivesicular body membrane metal ion binding|protein domain specific binding endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 12 all_neural(118;0.0878)|all_lung(278;0.23) BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955) GCAGTTCGGGGTGATGACCCG 0.682000 22 86 3.7963e-18 4.38446e-18 1 1 0 LRRC18 474354 broad.mit.edu 37 10 50121828 50121828 + Missense_Mutation SNP C C T TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84504382-2f05-4a30-82a6-8f60599abe40 e93eb9c6-b20c-4560-82fc-1aac0deffffa g.chr10:50121828C>T ENST00000374160.3 - 1 449 c.373G>A c.(373-375)Gct>Act p.A125T WDFY4_ENST00000325239.5_Intron|RP11-523O18.7_ENST00000430438.1_RNA|LRRC18_ENST00000298124.3_Missense_Mutation_p.A125T|WDFY4_ENST00000413659.2_Intron NM_001006939.3 NP_001006940.3 Q8N456 LRC18_HUMAN leucine rich repeat containing 18 125 cytoplasm NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 18 AGGTTCACAGCGCGGATGTTC 0.592000 10 31 0 0 1 0 0 TNXB 7148 broad.mit.edu 37 6 32021430 32021430 + Silent SNP G G A TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84504382-2f05-4a30-82a6-8f60599abe40 e93eb9c6-b20c-4560-82fc-1aac0deffffa g.chr6:32021430G>A ENST00000375244.3 - 25 8727 c.8526C>T c.(8524-8526)ccC>ccT p.P2842P TNXB_ENST00000375247.2_Silent_p.P2840P P22105 TENX_HUMAN tenascin XB 2889 Fibronectin type-III 20. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 GAGGCTTGTTGGGGGGCTCAG 0.637000 38 35 0 0 1 0 0 ATRX 546 broad.mit.edu 37 X 76854912 76854912 + Missense_Mutation SNP T T G TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84504382-2f05-4a30-82a6-8f60599abe40 e93eb9c6-b20c-4560-82fc-1aac0deffffa g.chrX:76854912T>G ENST00000373344.5 - 25 6138 c.5924A>C c.(5923-5925)aAc>aCc p.N1975T ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.N1937T NM_000489.3 NP_000480.3 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 1975 DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.?(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) AGAAGGATTGTTTCCTGTTTC 0.393000 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 49 537 0 0 1 0 0 PLXNB1 5364 broad.mit.edu 37 3 48445992 48445992 + Silent SNP G G A TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84504382-2f05-4a30-82a6-8f60599abe40 e93eb9c6-b20c-4560-82fc-1aac0deffffa g.chr3:48445992G>A ENST00000358536.4 - 38 6578 c.6309C>T c.(6307-6309)atC>atT p.I2103I PLXNB1_ENST00000456774.1_Silent_p.I1920I|PLXNB1_ENST00000358459.4_Silent_p.I1920I|PLXNB1_ENST00000296440.6_Silent_p.I2103I|PLXNB1_ENST00000448774.2_Silent_p.I714I NM_002673.4 NP_002664.2 O43157 PLXB1_HUMAN plexin B1 2103 axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 47 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) CCAGGGCAGTGATGATCTGAA 0.532000 5 16 0 0 1 0 0 PIWIL4 143689 broad.mit.edu 37 11 94316737 94316737 + Splice_Site SNP T T C TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84504382-2f05-4a30-82a6-8f60599abe40 e93eb9c6-b20c-4560-82fc-1aac0deffffa g.chr11:94316737T>C ENST00000299001.6 + 5 846 c.e5+2 RP11-867G2.8_ENST00000536540.1_RNA|RP11-867G2.8_ENST00000537874.1_RNA NM_152431.2 NP_689644.2 Q7Z3Z4 PIWL4_HUMAN piwi-like RNA-mediated gene silencing 4 cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis nucleus|piP-body piRNA binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2) 30 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) CTTCAGAAAGTAAGGCACTGG 0.423000 44 83 0 0 1 0 0 PCDHA5 56143 broad.mit.edu 37 5 140203331 140203331 + Silent SNP G G A TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84504382-2f05-4a30-82a6-8f60599abe40 e93eb9c6-b20c-4560-82fc-1aac0deffffa g.chr5:140203331G>A ENST00000529859.1 + 1 1971 c.1971G>A c.(1969-1971)ccG>ccA p.P657P PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Silent_p.P657P|PCDHA5_ENST00000378126.3_Silent_p.P657P|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron NM_018908.2 NP_061731.1 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAGAGCCCCCGCTGACAGCCA 0.672000 38 38 0 0 1 0 0 FNDC1 84624 broad.mit.edu 37 6 159682271 159682271 + Missense_Mutation SNP A A C TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84504382-2f05-4a30-82a6-8f60599abe40 e93eb9c6-b20c-4560-82fc-1aac0deffffa g.chr6:159682271A>C ENST00000297267.9 + 19 5424 c.5224A>C c.(5224-5226)Agc>Cgc p.S1742R FNDC1_ENST00000340366.6_Missense_Mutation_p.S1679R NM_032532.2 NP_115921.2 Q4ZHG4 FNDC1_HUMAN fibronectin type III domain containing 1 1742 Fibronectin type-III 5. extracellular region NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3) 93 Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195) OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05) CGGACCTATCAGCCCTTCGGT 0.348000 8 45 0 0 1 0 0 OR13C8 138802 broad.mit.edu 37 9 107332367 107332367 + Missense_Mutation SNP G G A TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84504382-2f05-4a30-82a6-8f60599abe40 e93eb9c6-b20c-4560-82fc-1aac0deffffa g.chr9:107332367G>A ENST00000335040.1 + 1 919 c.919G>A c.(919-921)Gtc>Atc p.V307I NM_001004483.1 NP_001004483.1 Q8NGS7 O13C8_HUMAN olfactory receptor, family 13, subfamily C, member 8 307 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1) 25 AAAGGCTGCTGTCAAAAACAT 0.373000 14 49 0 0 1 0 0 CRYM-AS1 400508 broad.mit.edu 37 16 21328190 21328190 + RNA SNP G G A TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84504382-2f05-4a30-82a6-8f60599abe40 e93eb9c6-b20c-4560-82fc-1aac0deffffa g.chr16:21328190G>A ENST00000444326.1 + 0 306 TAGAGGCGGCGATGTATTGCT 0.338000 51 99 0 0 1 0 0 PIGS 94005 broad.mit.edu 37 17 26888628 26888628 + Missense_Mutation SNP C C T TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84504382-2f05-4a30-82a6-8f60599abe40 e93eb9c6-b20c-4560-82fc-1aac0deffffa g.chr17:26888628C>T ENST00000308360.7 - 6 863 c.488G>A c.(487-489)gGg>gAg p.G163E PIGS_ENST00000395346.2_Missense_Mutation_p.G155E|PIGS_ENST00000543734.1_Missense_Mutation_p.G102E|PIGS_ENST00000465444.1_5'UTR NM_033198.3 NP_149975.1 Q96S52 PIGS_HUMAN phosphatidylinositol glycan anchor biosynthesis, class S 163 attachment of GPI anchor to protein|C-terminal protein lipidation GPI-anchor transamidase complex protein binding breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Lung NSC(42;0.00431) CCTCTTGGGCCCAATGTAGCT 0.552000 5 13 0 0 1 0 0 EEPD1 80820 broad.mit.edu 37 7 36338756 36338756 + Missense_Mutation SNP C C T TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84504382-2f05-4a30-82a6-8f60599abe40 e93eb9c6-b20c-4560-82fc-1aac0deffffa g.chr7:36338756C>T ENST00000242108.4 + 8 2369 c.1651C>T c.(1651-1653)Cgg>Tgg p.R551W EEPD1_ENST00000534978.1_Missense_Mutation_p.R551W NM_030636.2 NP_085139.2 Q7L9B9 EEPD1_HUMAN endonuclease/exonuclease/phosphatase family domain containing 1 551 DNA repair DNA binding endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1) 18 GGATGCCCCTCGGAACGGCAG 0.587000 15 19 0 0 1 0 0 PIK3CA 5290 broad.mit.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A rs104886003 TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84504382-2f05-4a30-82a6-8f60599abe40 e93eb9c6-b20c-4560-82fc-1aac0deffffa g.chr3:178936091G>A ENST00000263967.3 + 10 1790 c.1633G>A c.(1633-1635)Gag>Aag p.E545K NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 545 PI3K helical. E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.E545K(881)|p.E545Q(18) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) TGAAATCACTGAGCAGGAGAA 0.353000 E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS) 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 13 29 0 0 1 0 0 GDF2 2658 broad.mit.edu 37 10 48416603 48416603 + Missense_Mutation SNP C C A TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84504382-2f05-4a30-82a6-8f60599abe40 e93eb9c6-b20c-4560-82fc-1aac0deffffa g.chr10:48416603C>A ENST00000249598.1 - 1 250 c.91G>T c.(91-93)Ggg>Tgg p.G31W NM_016204.1 NP_057288.1 Q9UK05 GDF2_HUMAN growth differentiation factor 2 31 activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent extracellular space cytokine activity|growth factor activity breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 28 CCAGCAGACCCTCGTCCCCAG 0.647000 14 28 1.05317e-09 1.17497e-09 1 1 0 KRTAP4-5 85289 broad.mit.edu 37 17 39305619 39305619 + Missense_Mutation SNP G G T TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84504382-2f05-4a30-82a6-8f60599abe40 e93eb9c6-b20c-4560-82fc-1aac0deffffa g.chr17:39305619G>T ENST00000343246.4 - 1 435 c.401C>A c.(400-402)tCt>tAt p.S134Y NM_033188.3 NP_149445.3 Q9BYR2 KRA45_HUMAN keratin associated protein 4-5 139 27 X 5 AA repeats of C-C-[GRQVCHIEK]- [SPTR]-[VSTQYC]. keratin filament p.S134Y(2) central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4) 6 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) ttcacagcaagaggggtggca 0.637000 3 24 0.004672 0.00470066 1 1 0 PEX19 5824 broad.mit.edu 37 1 160252819 160252819 + Frame_Shift_Del DEL G G - rs146644725 byFrequency TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84504382-2f05-4a30-82a6-8f60599abe40 e93eb9c6-b20c-4560-82fc-1aac0deffffa g.chr1:160252819delG ENST00000368072.5 - 3 282 c.261delC c.(259-261)ttcfs p.F87fs PEX19_ENST00000440949.3_5'UTR|DCAF8_ENST00000608310.1_5'UTR|PEX19_ENST00000532508.1_5'UTR|DCAF8_ENST00000556710.1_5'UTR NM_001193644.1|NM_002857.3 NP_001180573.1|NP_002848.1 peroxisomal biogenesis factor 19 p.F87F(1) cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2) 11 all_cancers(52;1.27e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) TTGCCTTCTCGAACTCCGCAG 0.567 24 33 --- --- --- --- ANKRD36BP2 645784 broad.mit.edu 37 2 89083951 89083951 + RNA DEL A A - rs111608027 TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84504382-2f05-4a30-82a6-8f60599abe40 e93eb9c6-b20c-4560-82fc-1aac0deffffa g.chr2:89083951delA ENST00000393525.3 + 0 576 CTTTTTTTTCAGTGTATTTCT 0.348 2 4 --- --- --- --- ALPP 250 broad.mit.edu 37 2 233243529 233243531 + In_Frame_Del DEL TGC TGC - TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84504382-2f05-4a30-82a6-8f60599abe40 e93eb9c6-b20c-4560-82fc-1aac0deffffa g.chr2:233243529_233243531delTGC ENST00000392027.2 + 1 286_288 c.17_19delTGC c.(16-21)atgctg>atg p.L13del NM_001632.3 NP_001623.3 P05187 PPB1_HUMAN alkaline phosphatase, placental 13 anchored to membrane|cell surface|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2) 22 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196) GGGCCCTGCAtgctgctgctgct 0.616 7 64 --- --- --- --- SSPO 23145 broad.mit.edu 37 7 149506262 149506262 + RNA DEL T T - TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84504382-2f05-4a30-82a6-8f60599abe40 e93eb9c6-b20c-4560-82fc-1aac0deffffa g.chr7:149506262delT ENST00000378016.2 + 0 9250 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) CCTGCGCAGGTGAGGCCTGCC 0.657 6 8 --- --- --- --- SPATA31D1 389763 broad.mit.edu 37 9 84609799 84609799 + Frame_Shift_Del DEL A A - TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84504382-2f05-4a30-82a6-8f60599abe40 e93eb9c6-b20c-4560-82fc-1aac0deffffa g.chr9:84609799delA ENST00000344803.2 + 4 4461 c.4414delA c.(4414-4416)aaafs p.K1472fs NM_001001670.2 NP_001001670.1 SPATA31 subfamily D, member 1 GACACGTACCAAATCTTGCAG 0.502 16 35 --- --- --- --- KHSRP 8570 broad.mit.edu 37 19 6415898 6415898 + Frame_Shift_Del DEL C C - TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84504382-2f05-4a30-82a6-8f60599abe40 e93eb9c6-b20c-4560-82fc-1aac0deffffa g.chr19:6415898delC ENST00000398148.3 - 16 1700 c.1608delG c.(1606-1608)gggfs p.G536fs NM_003685.2 NP_003676.2 Q92945 FUBP2_HUMAN KH-type splicing regulatory protein 536 Ala/Gly/Pro-rich. mRNA processing|mRNA transport|regulation of transcription, DNA-dependent|RNA splicing, via transesterification reactions|transcription, DNA-dependent cytosol|nucleus DNA binding|protein binding|RNA binding breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|liver(1)|lung(6)|skin(1)|soft_tissue(1) 17 GAGGAGGGGGCCCCCCGGCAC 0.662 2 4 --- --- --- --- MAP1S 55201 broad.mit.edu 37 19 17844126 17844127 + Frame_Shift_Del DEL GC GC - TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84504382-2f05-4a30-82a6-8f60599abe40 e93eb9c6-b20c-4560-82fc-1aac0deffffa g.chr19:17844126_17844127delGC ENST00000324096.4 + 6 3064_3065 c.2913_2914delGC c.(2911-2916)gtgcgcfs p.R972fs CTD-3149D2.4_ENST00000595363.1_RNA|MAP1S_ENST00000544059.2_Frame_Shift_Del_p.R946fs NM_018174.4 NP_060644.4 Q66K74 MAP1S_HUMAN microtubule-associated protein 1S 972 Necessary for association with actin (By similarity).|Necessary for interaction with RASSF1 isoform A and isoform C.|Necessary for the mitochondrial aggregation and genome destruction. apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse actin filament binding|beta-tubulin binding|DNA binding|microtubule binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 25 TCCAGCGCGTGCGCGCGCTCTG 0.673 7 5 --- --- --- --- TUBGCP6 85378 broad.mit.edu 37 22 50658162 50658163 + Frame_Shift_Ins INS - - CC rs146983255 TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84504382-2f05-4a30-82a6-8f60599abe40 e93eb9c6-b20c-4560-82fc-1aac0deffffa g.chr22:50658162_50658163insCC ENST00000439308.2 - 18 4776_4777 c.4284_4285insGG c.(4282-4287)cggcggfs p.R1429fs TUBGCP6_ENST00000491449.1_5'UTR|TUBGCP6_ENST00000248846.5_Frame_Shift_Ins_p.A1409fs NM_020461.3 NP_065194.2 Q96RT7 GCP6_HUMAN tubulin, gamma complex associated protein 6 0 G2/M transition of mitotic cell cycle|microtubule nucleation centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole microtubule binding breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2) 45 all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21) CTGAGCCTCCGCCGCCGATGCC 0.649 25 30 --- --- --- --- TSIX 9383 broad.mit.edu 37 X 73047124 73047125 + RNA DEL AC AC - TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 84504382-2f05-4a30-82a6-8f60599abe40 e93eb9c6-b20c-4560-82fc-1aac0deffffa g.chrX:73047124_73047125delAC ENST00000604411.1 + 0 35085_35086 XIST_ENST00000429829.1_lincRNA NR_003255.2 GCCACACATGACACACACACAC 0.470 8 236 --- --- --- ---