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 SP1 6667 broad.mit.edu 37 12 53804795 53804795 + Missense_Mutation SNP A A G TCGA-EM-A3FN-01A-11D-A21A-08 TCGA-EM-A3FN-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d25bba0-29fc-4fe2-b891-d71fb3554dd3 03ff508f-ed60-4df8-9d9a-ca834a8b4073 g.chr12:53804795A>G uc001scw.3 + 5 2226 c.2129A>G c.(2128-2130)aAt>aGt p.N710S SP1_uc021qyf.1_Missense_Mutation_p.N662S|SP1_uc010sog.2_Missense_Mutation_p.N703S NM_138473 NP_612482 P08047 SP1_HUMAN Homo sapiens Sp1 transcription factor (SP1), transcript variant 1, mRNA. 710 Domain D.|VZV IE62-binding. positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter cytoplasm HMG box domain binding|double-stranded DNA binding|histone deacetylase binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1) 5 BRCA - Breast invasive adenocarcinoma(357;0.00527) ACCCACCAGAATAAGAAGGGA 0.532000 7 65 0 0 1 0 0 RASGEF1B 153020 broad.mit.edu 37 4 82366917 82366917 + Missense_Mutation SNP C C A TCGA-EM-A3FN-01A-11D-A21A-08 TCGA-EM-A3FN-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d25bba0-29fc-4fe2-b891-d71fb3554dd3 03ff508f-ed60-4df8-9d9a-ca834a8b4073 g.chr4:82366917C>A uc003hmi.1 - 6 949 c.805G>T c.(805-807)Gtt>Ttt p.V269F RASGEF1B_uc003hmj.1_Missense_Mutation_p.V268F|RASGEF1B_uc010ijq.1_Missense_Mutation_p.V227F NM_152545 NP_689758 Q0VAM2 RGF1B_HUMAN Homo sapiens RasGEF domain family, member 1B (RASGEF1B), mRNA. 269 Ras-GEF. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular Ras guanyl-nucleotide exchange factor activity endometrium(2)|kidney(5)|large_intestine(4)|lung(13)|prostate(1)|skin(1) 26 TCTGTAGCAACCAAGTAGCTG 0.363000 4 44 0 0 1 0 0 PRPF8 10594 broad.mit.edu 37 17 1579616 1579616 + Missense_Mutation SNP T T C TCGA-EM-A3FN-01A-11D-A21A-08 TCGA-EM-A3FN-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d25bba0-29fc-4fe2-b891-d71fb3554dd3 03ff508f-ed60-4df8-9d9a-ca834a8b4073 g.chr17:1579616T>C uc002fte.3 - 16 2551 c.2437A>G c.(2437-2439)Aca>Gca p.T813A NM_006445 NP_006436 Q6P2Q9 PRP8_HUMAN Homo sapiens PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae) (PRPF8), mRNA. 813 U5 snRNP|catalytic step 2 spliceosome|nuclear speck RNA binding|protein binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3) 77 UCEC - Uterine corpus endometrioid carcinoma (25;0.0855) CAATGCACTGTGGTGGTATAT 0.537000 8 114 0 0 1 0 0 SATL1 340562 broad.mit.edu 37 X 84363501 84363501 + Silent SNP G G A TCGA-EM-A3FN-01A-11D-A21A-08 TCGA-EM-A3FN-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d25bba0-29fc-4fe2-b891-d71fb3554dd3 03ff508f-ed60-4df8-9d9a-ca834a8b4073 g.chrX:84363501G>A uc004een.3 - 0 474 c.474C>T c.(472-474)acC>acT p.T158T NM_001012980 NP_001012998 Q86VE3 SATL1_HUMAN Homo sapiens spermidine/spermine N1-acetyl transferase-like 1 (SATL1), mRNA. 214 Gln-rich. N-acetyltransferase activity NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1) 29 CTAATTGGCTGGTGCCTACTT 0.532000 OREG0019887 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 81 0 0 1 0 0 EIF1AX 1964 broad.mit.edu 37 X 20156735 20156735 + Missense_Mutation SNP C C T TCGA-EM-A3FN-01A-11D-A21A-08 TCGA-EM-A3FN-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d25bba0-29fc-4fe2-b891-d71fb3554dd3 03ff508f-ed60-4df8-9d9a-ca834a8b4073 g.chrX:20156735C>T uc004czt.3 - 1 230 c.22G>A c.(22-24)Gga>Aga p.G8R SCARNA9L_uc010nfp.3_5'Flank NM_001412 NP_001403 P47813 IF1AX_HUMAN Homo sapiens eukaryotic translation initiation factor 1A, X-linked (EIF1AX), mRNA. 8 cytosol translation initiation factor activity endometrium(2)|lung(1)|ovary(1)|prostate(1) 5 TTTTTACCTCCTTTACCTGAT 0.308000 30 67 0 0 1 0 0 ARX 170302 broad.mit.edu 37 X 25031220 25031220 + Missense_Mutation SNP G G T TCGA-EM-A3FN-01A-11D-A21A-08 TCGA-EM-A3FN-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d25bba0-29fc-4fe2-b891-d71fb3554dd3 03ff508f-ed60-4df8-9d9a-ca834a8b4073 g.chrX:25031220G>T uc004dbp.4 - 1 1103 c.892C>A c.(892-894)Cac>Aac p.H298N NM_139058 NP_620689 Q96QS3 ARX_HUMAN Homo sapiens aristaless related homeobox (ARX), mRNA. 298 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity kidney(1)|large_intestine(2)|lung(1) 4 TCTTCCGGGTGCAGCAGCAGC 0.697000 6 12 0 0 1 0 0 HDAC9 9734 broad.mit.edu 37 7 18688246 18688246 + Silent SNP G G A TCGA-EM-A3FN-01A-11D-A21A-08 TCGA-EM-A3FN-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d25bba0-29fc-4fe2-b891-d71fb3554dd3 03ff508f-ed60-4df8-9d9a-ca834a8b4073 g.chr7:18688246G>A uc003sui.3 + 9 1448 c.1407G>A c.(1405-1407)caG>caA p.Q469Q HDAC9_uc003sue.3_Silent_p.Q466Q|HDAC9_uc011jyd.2_Silent_p.Q466Q|HDAC9_uc003suh.3_Silent_p.Q466Q|HDAC9_uc003suj.3_Silent_p.Q425Q|HDAC9_uc011jya.2_Silent_p.Q464Q|HDAC9_uc003sua.1_Silent_p.Q444Q|HDAC9_uc003sud.2_Silent_p.Q466Q|HDAC9_uc011jyc.2_Silent_p.Q425Q|HDAC9_uc011jyb.2_Silent_p.Q422Q|HDAC9_uc003suf.2_Silent_p.Q497Q|HDAC9_uc010kud.2_Silent_p.Q469Q|HDAC9_uc011jye.2_Silent_p.Q438Q|HDAC9_uc011jyf.2_Silent_p.Q389Q|HDAC9_uc010kue.1_Silent_p.Q209Q NM_178425 NP_848512 Q9UKV0 HDAC9_HUMAN Homo sapiens histone deacetylase 9 (HDAC9), transcript variant 5, mRNA. 466 B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 82 all_lung(11;0.187) Valproic Acid(DB00313) TCATTCAACAGCAACACCAGC 0.507000 3 80 0 0 1 0 0 CMA1 1215 broad.mit.edu 37 14 24976707 24976707 + Missense_Mutation SNP T T C TCGA-EM-A3FN-01A-11D-A21A-08 TCGA-EM-A3FN-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d25bba0-29fc-4fe2-b891-d71fb3554dd3 03ff508f-ed60-4df8-9d9a-ca834a8b4073 g.chr14:24976707T>C uc001wpp.1 - 1 94 c.64A>G c.(64-66)Atc>Gtc p.I22V CMA1_uc010alx.1_Intron NM_001836 NP_001827 P23946 CMA1_HUMAN Homo sapiens chymase 1, mast cell (CMA1), mRNA. 22 Peptidase S1. interleukin-1 beta biosynthetic process|proteolysis extracellular region serine-type endopeptidase activity p.E21D(1) kidney(1)|lung(8)|pancreas(1)|prostate(1) 11 GBM - Glioblastoma multiforme(265;0.0271) CCCCCGATGATCTCCCCTGGA 0.507000 5 203 0 0 1 0 0 CPOX 1371 broad.mit.edu 37 3 98304370 98304370 + Missense_Mutation SNP G G T TCGA-EM-A3FN-01A-11D-A21A-08 TCGA-EM-A3FN-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d25bba0-29fc-4fe2-b891-d71fb3554dd3 03ff508f-ed60-4df8-9d9a-ca834a8b4073 g.chr3:98304370G>T uc003dsx.3 - 4 1194 c.1087C>A c.(1087-1089)Cct>Act p.P363T NM_000097 NP_000088 P36551 HEM6_HUMAN Homo sapiens coproporphyrinogen oxidase (CPOX), mRNA. 363 mitochondrial intermembrane space coproporphyrinogen oxidase activity|protein homodimerization activity endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1) 16 ATGTAAGAAGGAACTACAGCC 0.507000 13 208 0 0 1 0 0 OR5AU1 390445 broad.mit.edu 37 14 21623307 21623307 + Missense_Mutation SNP G G A TCGA-EM-A3FN-01A-11D-A21A-08 TCGA-EM-A3FN-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d25bba0-29fc-4fe2-b891-d71fb3554dd3 03ff508f-ed60-4df8-9d9a-ca834a8b4073 g.chr14:21623307G>A uc010tlp.2 - 0 878 c.878C>T c.(877-879)gCa>gTa p.A293V NM_001004731 NP_001004731 Q8NGC0 O5AU1_HUMAN Homo sapiens olfactory receptor, family 5, subfamily AU, member 1 (OR5AU1), mRNA. 293 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(12)|pancreas(1) 21 all_cancers(95;0.00238) Epithelial(56;6.88e-07)|all cancers(55;6.02e-06) GBM - Glioblastoma multiforme(265;0.0192) GAGGTGGGATGCACAGGTGGA 0.522000 3 53 0 0 1 0 0 COL14A1 7373 broad.mit.edu 37 8 121238917 121238917 + Missense_Mutation SNP G G A TCGA-EM-A3FN-01A-11D-A21A-08 TCGA-EM-A3FN-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d25bba0-29fc-4fe2-b891-d71fb3554dd3 03ff508f-ed60-4df8-9d9a-ca834a8b4073 g.chr8:121238917G>A uc003yox.3 + 15 2181 c.1916G>A c.(1915-1917)aGt>aAt p.S639N COL14A1_uc003yoy.3_Missense_Mutation_p.S317N NM_021110 NP_066933 Q05707 COEA1_HUMAN Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA. 639 Fibronectin type-III 5. cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 119 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) ACGACAGACAGTTTTAGGGTG 0.473000 3 57 0 0 1 0 0 MOV10L1 54456 broad.mit.edu 37 22 50582545 50582545 + Missense_Mutation SNP A A G TCGA-EM-A3FN-01A-11D-A21A-08 TCGA-EM-A3FN-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d25bba0-29fc-4fe2-b891-d71fb3554dd3 03ff508f-ed60-4df8-9d9a-ca834a8b4073 g.chr22:50582545A>G uc003bjj.3 + 17 2461 c.2378A>G c.(2377-2379)gAc>gGc p.D793G MOV10L1_uc003bjk.4_Missense_Mutation_p.D793G|MOV10L1_uc011arp.2_Missense_Mutation_p.D773G|MOV10L1_uc003bjl.3_5'Flank NM_018995 NP_061868 Q9BXT6 M10L1_HUMAN Homo sapiens Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) (MOV10L1), transcript variant 1, mRNA. 793 germ cell development|multicellular organismal development|spermatogenesis ATP binding|ATP-dependent RNA helicase activity|RNA binding|magnesium ion binding breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3) 67 all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114) LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24) GCCTTGCCGGACAGTCGGATT 0.562000 78 158 0 0 1 0 0 ADCK1 57143 broad.mit.edu 37 14 78365449 78365449 + Missense_Mutation SNP G G C TCGA-EM-A3FN-01A-11D-A21A-08 TCGA-EM-A3FN-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d25bba0-29fc-4fe2-b891-d71fb3554dd3 03ff508f-ed60-4df8-9d9a-ca834a8b4073 g.chr14:78365449G>C uc001xui.3 + 5 688 c.589G>C c.(589-591)Gtt>Ctt p.V197L ADCK1_uc010tvo.1_Non-coding_Transcript|ADCK1_uc001xuj.3_Missense_Mutation_p.V129L|ADCK1_uc001xuk.1_Missense_Mutation_p.V71L NM_020421 NP_065154 Q86TW2 ADCK1_HUMAN Homo sapiens aarF domain containing kinase 1 (ADCK1), transcript variant 1, mRNA. 204 Protein kinase. extracellular region ATP binding|protein serine/threonine kinase activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2) 25 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0376) TCAGGTGCTCGTTCTGGCTGT 0.507000 48 117 0 0 1 0 0 SLC25A13 10165 broad.mit.edu 37 7 95822462 95822462 + Missense_Mutation SNP C C T TCGA-EM-A3FN-01A-11D-A21A-08 TCGA-EM-A3FN-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d25bba0-29fc-4fe2-b891-d71fb3554dd3 03ff508f-ed60-4df8-9d9a-ca834a8b4073 g.chr7:95822462C>T uc003uog.4 - 5 693 c.502G>A c.(502-504)Gtg>Atg p.V168M SLC25A13_uc003uof.4_Missense_Mutation_p.V168M|SLC25A13_uc011kik.2_Missense_Mutation_p.V60M NM_001160210 NP_001153682 Q9UJS0 CMC2_HUMAN Homo sapiens solute carrier family 25, member 13 (citrin) (SLC25A13), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 168 EF-hand 4. ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion integral to plasma membrane|mitochondrial inner membrane L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|calcium ion binding breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4) 42 all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07) STAD - Stomach adenocarcinoma(171;0.194) L-Aspartic Acid(DB00128) TCCCGTTGCACAAAGGCTTGC 0.413000 37 55 0 0 1 0 0 COL5A3 50509 broad.mit.edu 37 19 10071487 10071487 + Missense_Mutation SNP C C T TCGA-EM-A3FN-01A-11D-A21A-08 TCGA-EM-A3FN-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d25bba0-29fc-4fe2-b891-d71fb3554dd3 03ff508f-ed60-4df8-9d9a-ca834a8b4073 g.chr19:10071487C>T uc002mmq.1 - 65 5017 c.4931G>A c.(4930-4932)cGc>cAc p.R1644H NM_015719 NP_056534 P25940 CO5A3_HUMAN Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA. 1644 Fibrillar collagen NC1. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 116 Epithelial(33;7.11e-05) GAAGTTCTGGCGAGCTGTGGC 0.607000 4 84 0 0 1 0 0 TP53BP1 7158 broad.mit.edu 37 15 43712831 43712831 + Silent SNP G G T TCGA-EM-A3FN-01A-11D-A21A-08 TCGA-EM-A3FN-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d25bba0-29fc-4fe2-b891-d71fb3554dd3 03ff508f-ed60-4df8-9d9a-ca834a8b4073 g.chr15:43712831G>T uc001zrr.4 - 20 4466 c.4353C>A c.(4351-4353)tcC>tcA p.S1451S TP53BP1_uc010udp.2_Silent_p.S1446S|TP53BP1_uc001zrq.4_Silent_p.S1451S|TP53BP1_uc001zrs.3_Silent_p.S1446S|TP53BP1_uc010udq.1_Silent_p.S1451S NM_001141980 NP_005648 Q12888 TP53B_HUMAN Homo sapiens tumor protein p53 binding protein 1 (TP53BP1), transcript variant 1, mRNA. 1446 double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter condensed chromosome kinetochore|cytoplasm|nucleoplasm RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity|p53 binding p.D1451Y(1) breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3) 72 all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;1.59e-06) TTCGTCTGGTGGAGTCTGGCA 0.542000 Other conserved DNA damage response genes 41 55 0 0 1 0 0 OR5K1 26339 broad.mit.edu 37 3 98189173 98189173 + Missense_Mutation SNP C C A TCGA-EM-A3FN-01A-11D-A21A-08 TCGA-EM-A3FN-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d25bba0-29fc-4fe2-b891-d71fb3554dd3 03ff508f-ed60-4df8-9d9a-ca834a8b4073 g.chr3:98189173C>A uc003dsm.3 + 0 753 c.753C>A c.(751-753)ttC>ttA p.F251L NM_001004736 NP_001004736 Q8NHB7 OR5K1_HUMAN Homo sapiens olfactory receptor, family 5, subfamily K, member 1 (OR5K1), mRNA. 251 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 TTTCATTATTCTATGGATCTC 0.343000 13 36 0 0 1 0 0 AVP 551 broad.mit.edu 37 20 3065238 3065238 + Missense_Mutation SNP C C T TCGA-EM-A3FN-01A-11D-A21A-08 TCGA-EM-A3FN-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d25bba0-29fc-4fe2-b891-d71fb3554dd3 03ff508f-ed60-4df8-9d9a-ca834a8b4073 g.chr20:3065238C>T uc002whu.3 - 0 133 c.83G>A c.(82-84)gGc>gAc p.G28D NM_000490 NP_000481 P01185 NEU2_HUMAN Homo sapiens arginine vasopressin (AVP), mRNA. 28 ERK1 and ERK2 cascade|cell-cell signaling|generation of precursor metabolites and energy|negative regulation of apoptosis|negative regulation of release of cytochrome c from mitochondria|positive regulation of gene expression|positive regulation of peptidyl-serine phosphorylation|protein kinase C signaling cascade|sodium-independent organic anion transport|transmembrane transport|vasoconstriction|water transport cytosol|soluble fraction V1A vasopressin receptor binding|caspase inhibitor activity|neurohypophyseal hormone activity|protein kinase activity|signal transducer activity central_nervous_system(1)|prostate(1)|skin(1) 3 COAD - Colon adenocarcinoma(99;0.00643) CCTCTTGCCGCCCCTCGGGCA 0.647000 7 195 0 0 1 0 0 KRTAP12-3 386683 broad.mit.edu 37 21 46078031 46078031 + Silent SNP C C T TCGA-EM-A3FN-01A-11D-A21A-08 TCGA-EM-A3FN-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d25bba0-29fc-4fe2-b891-d71fb3554dd3 03ff508f-ed60-4df8-9d9a-ca834a8b4073 g.chr21:46078031C>T uc002zft.3 + 0 183 c.135C>T c.(133-135)tgC>tgT p.C45C TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron NM_198697 NP_941970 P60328 KR123_HUMAN Homo sapiens keratin associated protein 12-3 (KRTAP12-3), mRNA. 45 14 X 5 AA approximate repeats. intermediate filament central_nervous_system(1)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 7 GCATTGTGTGCGTGGCTCCCT 0.642000 6 267 0 0 1 0 0 NDUFA9 4704 broad.mit.edu 37 12 4791380 4791380 + Silent SNP G G A TCGA-EM-A3FN-01A-11D-A21A-08 TCGA-EM-A3FN-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d25bba0-29fc-4fe2-b891-d71fb3554dd3 03ff508f-ed60-4df8-9d9a-ca834a8b4073 g.chr12:4791380G>A uc001qnc.3 + 8 839 c.810G>A c.(808-810)cgG>cgA p.R270R NDUFA9_uc010ses.2_Silent_p.R51R NM_005002 NP_004993 Q16795 NDUA9_HUMAN Homo sapiens NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa (NDUFA9), nuclear gene encoding mitochondrial protein, mRNA. 270 mitochondrial electron transport, NADH to ubiquinone|sodium ion transport mitochondrial matrix|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity|protein binding p.R270L(1)|p.R270Q(1) NS(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 21 NADH(DB00157) GTCCCAGTCGGTACCTCCTTT 0.398000 4 152 0 0 1 0 0 FOXJ2 55810 broad.mit.edu 37 12 8202170 8202170 + Missense_Mutation SNP A A C TCGA-EM-A3FN-01A-11D-A21A-08 TCGA-EM-A3FN-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d25bba0-29fc-4fe2-b891-d71fb3554dd3 03ff508f-ed60-4df8-9d9a-ca834a8b4073 g.chr12:8202170A>C uc001qtt.1 + 8 2625 c.1540A>C c.(1540-1542)Act>Cct p.T514P FOXJ2_uc001qtu.3_Intron NM_018416 NP_060886 Q9P0K8 FOXJ2_HUMAN Homo sapiens forkhead box J2 (FOXJ2), mRNA. 321 embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development nucleolus|transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|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 factor binding autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 16 Kidney(36;0.0944) GAGCCAAGGTACTGCACCAAG 0.557000 6 19 0 0 1 0 0 SYTL3 94120 broad.mit.edu 37 6 159184419 159184419 + Nonsense_Mutation SNP C C G TCGA-EM-A3FN-01A-11D-A21A-08 TCGA-EM-A3FN-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d25bba0-29fc-4fe2-b891-d71fb3554dd3 03ff508f-ed60-4df8-9d9a-ca834a8b4073 g.chr6:159184419C>G uc003qrp.3 + 17 2000 c.1601C>G c.(1600-1602)tCa>tGa p.S534* SYTL3_uc003qrr.3_Nonsense_Mutation_p.S534*|SYTL3_uc003qro.3_Nonsense_Mutation_p.S466*|SYTL3_uc003qrs.3_Nonsense_Mutation_p.S466*|SYTL3_uc011efq.2_Nonsense_Mutation_p.S260* NM_001242384 NP_001229313 Q4VX76 SYTL3_HUMAN Homo sapiens synaptotagmin-like 3 (SYTL3), transcript variant 1, mRNA. 534 C2 2. intracellular protein transport endomembrane system|membrane Rab GTPase binding endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|urinary_tract(1) 20 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06) TGGAAACACTCATTTGTCTTC 0.527000 35 65 0 0 1 0 0 ACTB 60 broad.mit.edu 37 7 5568116 5568116 + Missense_Mutation SNP A A C TCGA-EM-A3FN-01A-11D-A21A-08 TCGA-EM-A3FN-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d25bba0-29fc-4fe2-b891-d71fb3554dd3 03ff508f-ed60-4df8-9d9a-ca834a8b4073 g.chr7:5568116A>C uc003sot.4 - 3 682 c.598T>G c.(598-600)Ttc>Gtc p.F200V ACTB_uc003sor.4_Missense_Mutation_p.F78V|ACTB_uc003soq.4_Missense_Mutation_p.F78V NM_001101 NP_001092 P60709 ACTB_HUMAN Homo sapiens actin, beta (ACTB), mRNA. 200 'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement MLL5-L complex|NuA4 histone acetyltransferase complex|cytoskeleton|cytosol|ribonucleoprotein complex ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2) 8 Ovarian(82;0.0606) UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37) GTGGTGGTGAAGCTGTAGCCG 0.622000 43 55 0 0 1 0 0 ANKRD54 129138 broad.mit.edu 37 22 38240354 38240357 + Splice_Site DEL GGGC GGGC - TCGA-EM-A3FN-01A-11D-A21A-08 TCGA-EM-A3FN-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d25bba0-29fc-4fe2-b891-d71fb3554dd3 03ff508f-ed60-4df8-9d9a-ca834a8b4073 g.chr22:38240354_38240357delGGGC uc003auc.3 - 1 1 c.-107_splice c.e1-1 ANKRD54_uc003aud.3_Splice_Site|ANKRD54_uc021wpj.1_Non-coding_Transcript NM_138797 NP_620152 Q6NXT1 ANR54_HUMAN Homo sapiens ankyrin repeat domain 54 (ANKRD54), transcript variant 1, mRNA. lung(1) 1 Melanoma(58;0.045) CGGGCGGGCAGGGCCCGCAACCAC 0.686 8 8 --- --- --- ---