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 RREB1 6239 broad.mit.edu 37 6 7230136 7230136 + Missense_Mutation SNP A A G TCGA-QK-AA3K-01A-11D-A391-08 TCGA-QK-AA3K-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b794eb4b-1c54-4989-88ed-28df2bd05b16 756ee1e0-9adb-4510-9f4d-e4de76961875 g.chr6:7230136A>G ENST00000379938.2 + 10 2341 c.1804A>G c.(1804-1806)Atc>Gtc p.I602V RREB1_ENST00000334984.6_Missense_Mutation_p.I602V|RREB1_ENST00000349384.6_Missense_Mutation_p.I602V|RREB1_ENST00000379933.3_Missense_Mutation_p.I602V NM_001003699.3|NM_001003700.1 NP_001003699.1|NP_001003700.1 Q92766 RREB1_HUMAN ras responsive element binding protein 1 602 multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter cytoplasm|nuclear speck DNA binding|zinc ion binding breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Ovarian(93;0.0398) all_hematologic(90;0.0384)|Prostate(151;0.191) GGACAGCATCATCGAGGCCCT 0.672000 11 30 0 0 1 0 0 STK31 56164 broad.mit.edu 37 7 23792352 23792352 + Missense_Mutation SNP C C T TCGA-QK-AA3K-01A-11D-A391-08 TCGA-QK-AA3K-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b794eb4b-1c54-4989-88ed-28df2bd05b16 756ee1e0-9adb-4510-9f4d-e4de76961875 g.chr7:23792352C>T ENST00000354639.3 + 9 1429 c.965C>T c.(964-966)gCt>gTt p.A322V STK31_ENST00000428484.1_Missense_Mutation_p.A322V|STK31_ENST00000433467.2_Missense_Mutation_p.A345V|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000355870.3_Missense_Mutation_p.A345V NM_001260504.1|NM_032944.3 NP_001247433.1|NP_116562.2 Q9BXU1 STK31_HUMAN serine/threonine kinase 31 345 ATP binding|nucleic acid binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 AAGGCAGCTGCTGTGGATTTG 0.368000 14 75 0 0 1 0 0 HGS 9146 broad.mit.edu 37 17 79667832 79667832 + Silent SNP T T C TCGA-QK-AA3K-01A-11D-A391-08 TCGA-QK-AA3K-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b794eb4b-1c54-4989-88ed-28df2bd05b16 756ee1e0-9adb-4510-9f4d-e4de76961875 g.chr17:79667832T>C ENST00000329138.4 + 20 2259 c.2124T>C c.(2122-2124)ccT>ccC p.P708P NM_004712.4 NP_004703.1 O14964 HGS_HUMAN hepatocyte growth factor-regulated tyrosine kinase substrate 708 Gln-rich.|Interaction with NF2. 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) GCTACCAGCCTTACAACATGC 0.642000 13 53 0 0 1 0 0 UBE3B 89910 broad.mit.edu 37 12 109927763 109927763 + Missense_Mutation SNP A A G TCGA-QK-AA3K-01A-11D-A391-08 TCGA-QK-AA3K-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b794eb4b-1c54-4989-88ed-28df2bd05b16 756ee1e0-9adb-4510-9f4d-e4de76961875 g.chr12:109927763A>G ENST00000342494.3 + 8 1179 c.584A>G c.(583-585)aAt>aGt p.N195S UBE3B_ENST00000540230.1_Missense_Mutation_p.N195S|UBE3B_ENST00000434735.2_Missense_Mutation_p.N195S|UBE3B_ENST00000280774.5_Missense_Mutation_p.N195S|UBE3B_ENST00000340074.5_Missense_Mutation_p.N195S|UBE3B_ENST00000537063.1_Missense_Mutation_p.N195S|UBE3B_ENST00000536398.1_Missense_Mutation_p.N195S NM_130466.3 NP_569733.2 Q7Z3V4 UBE3B_HUMAN ubiquitin protein ligase E3B 195 protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular ubiquitin-protein ligase activity NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2) 45 ATTTGTGCAAATATAATGGGA 0.448000 68 82 0 0 1 0 0 TXNDC16 57544 broad.mit.edu 37 14 53003496 53003496 + Silent SNP G G A rs138963960 by1000genomes TCGA-QK-AA3K-01A-11D-A391-08 TCGA-QK-AA3K-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b794eb4b-1c54-4989-88ed-28df2bd05b16 756ee1e0-9adb-4510-9f4d-e4de76961875 g.chr14:53003496G>A ENST00000281741.4 - 6 704 c.333C>T c.(331-333)ctC>ctT p.L111L TXNDC16_ENST00000554399.1_Intron NM_001160047.1|NM_020784.2 NP_001153519.1|NP_065835.2 Q9P2K2 TXD16_HUMAN thioredoxin domain containing 16 111 cell redox homeostasis extracellular region breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1) 21 Breast(41;0.0716) GGAATTCTCTGAGCAATATGT 0.313000 9 36 0 0 1 0 0 FRMD8 83786 broad.mit.edu 37 11 65172435 65172435 + Missense_Mutation SNP C C T TCGA-QK-AA3K-01A-11D-A391-08 TCGA-QK-AA3K-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b794eb4b-1c54-4989-88ed-28df2bd05b16 756ee1e0-9adb-4510-9f4d-e4de76961875 g.chr11:65172435C>T ENST00000317568.5 + 10 1335 c.1172C>T c.(1171-1173)cCc>cTc p.P391L FRMD8_ENST00000416776.2_Missense_Mutation_p.P357L|FRMD8_ENST00000355991.5_Missense_Mutation_p.P335L NM_031904.3 NP_114110.1 Q9BZ67 FRMD8_HUMAN FERM domain containing 8 391 cytoskeleton binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|urinary_tract(1) 17 CCCTCGGACCCCAGCTCCTCA 0.652000 13 54 0 0 1 0 0 THAP5 168451 broad.mit.edu 37 7 108204880 108204880 + Missense_Mutation SNP T T C TCGA-QK-AA3K-01A-11D-A391-08 TCGA-QK-AA3K-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b794eb4b-1c54-4989-88ed-28df2bd05b16 756ee1e0-9adb-4510-9f4d-e4de76961875 g.chr7:108204880T>C ENST00000415914.3 - 3 1096 c.943A>G c.(943-945)Aca>Gca p.T315A THAP5_ENST00000313516.5_Missense_Mutation_p.T273A|THAP5_ENST00000493722.1_5'UTR NM_001130475.1 NP_001123947.1 Q7Z6K1 THAP5_HUMAN THAP domain containing 5 315 cell cycle|negative regulation of cell cycle nucleus DNA binding|metal ion binding|protease binding central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1) 8 AAAACTTCTGTCCCATAGTCT 0.348000 18 56 0 0 1 0 0 SBK1 388228 broad.mit.edu 37 16 28331784 28331784 + Missense_Mutation SNP C C T TCGA-QK-AA3K-01A-11D-A391-08 TCGA-QK-AA3K-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b794eb4b-1c54-4989-88ed-28df2bd05b16 756ee1e0-9adb-4510-9f4d-e4de76961875 g.chr16:28331784C>T ENST00000341901.4 + 4 1606 c.817C>T c.(817-819)Cgc>Tgc p.R273C NM_001024401.2 NP_001019572.1 Q52WX2 SBK1_HUMAN SH3 domain binding kinase 1 273 Protein kinase. cytoplasm ATP binding|protein serine/threonine kinase activity kidney(1)|lung(3)|ovary(1) 5 GCAGCGGGGCCGCCTGCCGGG 0.736000 8 23 0 0 1 0 0 C10orf88 80007 broad.mit.edu 37 10 124697528 124697528 + Missense_Mutation SNP C C T TCGA-QK-AA3K-01A-11D-A391-08 TCGA-QK-AA3K-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b794eb4b-1c54-4989-88ed-28df2bd05b16 756ee1e0-9adb-4510-9f4d-e4de76961875 g.chr10:124697528C>T ENST00000481909.1 - 5 1020 c.796G>A c.(796-798)Ggg>Agg p.G266R C10orf88_ENST00000368891.5_5'UTR NM_024942.3 NP_079218.2 Q9H8K7 CJ088_HUMAN chromosome 10 open reading frame 88 266 breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1) 18 all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205) Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0735) GTCACGTTCCCAGATGTCAAT 0.398000 12 54 0 0 1 0 0 ZNF326 284695 broad.mit.edu 37 1 90470707 90470707 + Missense_Mutation SNP A A G TCGA-QK-AA3K-01A-11D-A391-08 TCGA-QK-AA3K-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b794eb4b-1c54-4989-88ed-28df2bd05b16 756ee1e0-9adb-4510-9f4d-e4de76961875 g.chr1:90470707A>G ENST00000340281.4 + 4 256 c.113A>G c.(112-114)tAt>tGt p.Y38C ZNF326_ENST00000455342.2_Intron|ZNF326_ENST00000361911.5_Missense_Mutation_p.Y38C|ZNF326_ENST00000370447.2_Missense_Mutation_p.Y38C NM_182976.2 NP_892021.1 Q5BKZ1 ZN326_HUMAN zinc finger protein 326 38 Gly-rich.|Mediates transcriptional activation (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear matrix DNA binding central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(7)|ovary(1) 25 all_lung(203;0.0116)|Lung NSC(277;0.0417) all cancers(265;0.00728)|Epithelial(280;0.0265) GATCGTGACTATGGCCATGGA 0.413000 16 54 0 0 1 0 0 ZNF827 152485 broad.mit.edu 37 4 146697081 146697081 + Silent SNP G G A TCGA-QK-AA3K-01A-11D-A391-08 TCGA-QK-AA3K-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b794eb4b-1c54-4989-88ed-28df2bd05b16 756ee1e0-9adb-4510-9f4d-e4de76961875 g.chr4:146697081G>A ENST00000508784.1 - 10 2780 c.2553C>T c.(2551-2553)ccC>ccT p.P851P ZNF827_ENST00000513320.1_Silent_p.P501P|ZNF827_ENST00000379448.4_Silent_p.P851P Q17R98 ZN827_HUMAN zinc finger protein 827 851 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 all_hematologic(180;0.151) TAGCAGCATAGGGGCACAAGT 0.498000 40 41 0 0 1 0 0 ZAP70 7535 broad.mit.edu 37 2 98355914 98355914 + Missense_Mutation SNP G G C TCGA-QK-AA3K-01A-11D-A391-08 TCGA-QK-AA3K-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b794eb4b-1c54-4989-88ed-28df2bd05b16 756ee1e0-9adb-4510-9f4d-e4de76961875 g.chr2:98355914G>C ENST00000264972.5 + 14 2028 c.1813G>C c.(1813-1815)Gaa>Caa p.E605Q ZAP70_ENST00000442208.1_Missense_Mutation_p.E479Q|ZAP70_ENST00000463643.1_3'UTR|ZAP70_ENST00000451498.2_Missense_Mutation_p.E298Q NM_001079.3 NP_001070.2 P43403 ZAP70_HUMAN zeta-chain (TCR) associated protein kinase 70kDa 605 immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway cytosol|T cell receptor complex ATP binding|non-membrane spanning protein tyrosine kinase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 29 CAGCAAGGTGGAAGGGCCCCC 0.687000 6 55 0 0 1 0 0 TRIM59 286827 broad.mit.edu 37 3 160155772 160155772 + Silent SNP T T A TCGA-QK-AA3K-01A-11D-A391-08 TCGA-QK-AA3K-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b794eb4b-1c54-4989-88ed-28df2bd05b16 756ee1e0-9adb-4510-9f4d-e4de76961875 g.chr3:160155772T>A ENST00000309784.4 - 3 1385 c.1200A>T c.(1198-1200)atA>atT p.I400I RP11-432B6.3_ENST00000483754.1_Intron|TRIM59_ENST00000543469.1_Intron NM_173084.2 NP_775107.1 Q8IWR1 TRI59_HUMAN tripartite motif containing 59 400 integral to membrane|intracellular zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(3) 15 Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523) AATGGGAAACTATTTTCCACA 0.333000 6 69 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11047508 11047508 + RNA SNP A A G TCGA-QK-AA3K-01A-11D-A391-08 TCGA-QK-AA3K-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b794eb4b-1c54-4989-88ed-28df2bd05b16 756ee1e0-9adb-4510-9f4d-e4de76961875 g.chr21:11047508A>G ENST00000470054.1 - 0 746 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TGGTTGGTACAGATTTCATAA 0.343000 7 312 0 0 1 0 0 ZNF335 63925 broad.mit.edu 37 20 44586291 44586291 + Silent SNP C C T rs146076876 TCGA-QK-AA3K-01A-11D-A391-08 TCGA-QK-AA3K-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b794eb4b-1c54-4989-88ed-28df2bd05b16 756ee1e0-9adb-4510-9f4d-e4de76961875 g.chr20:44586291C>T ENST00000322927.2 - 17 2476 c.2376G>A c.(2374-2376)acG>acA p.T792T ZNF335_ENST00000426788.1_Silent_p.T637T NM_022095.3 NP_071378.1 Q9H4Z2 ZN335_HUMAN zinc finger protein 335 792 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 51 Myeloproliferative disorder(115;0.0122) AGGCTGTCTGCGTGGCCATCG 0.612000 15 49 0 0 1 0 0 DNAH9 1770 broad.mit.edu 37 17 11572384 11572384 + Missense_Mutation SNP G G A TCGA-QK-AA3K-01A-11D-A391-08 TCGA-QK-AA3K-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b794eb4b-1c54-4989-88ed-28df2bd05b16 756ee1e0-9adb-4510-9f4d-e4de76961875 g.chr17:11572384G>A ENST00000262442.3 + 16 2803 c.2735G>A c.(2734-2736)tGt>tAt p.C912Y DNAH9_ENST00000454412.2_Missense_Mutation_p.C912Y NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 912 Stem (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) TTTTCAGAGTGTAAGGCAGGA 0.423000 13 74 0 0 1 0 0 GABBR1 2550 broad.mit.edu 37 6 29589031 29589031 + Nonsense_Mutation SNP C C T TCGA-QK-AA3K-01A-11D-A391-08 TCGA-QK-AA3K-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b794eb4b-1c54-4989-88ed-28df2bd05b16 756ee1e0-9adb-4510-9f4d-e4de76961875 g.chr6:29589031C>T ENST00000377034.4 - 11 1505 c.1170G>A c.(1168-1170)tgG>tgA p.W390* GABBR1_ENST00000355973.3_Nonsense_Mutation_p.W273*|GABBR1_ENST00000377012.4_Nonsense_Mutation_p.W273*|GABBR1_ENST00000377016.4_Nonsense_Mutation_p.W328*|GABBR1_ENST00000376977.3_Nonsense_Mutation_p.W390* NM_001470.2 NP_001461.1 Q9UBS5 GABR1_HUMAN gamma-aminobutyric acid (GABA) B receptor, 1 390 gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane G-protein coupled receptor activity|GABA-B receptor activity endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Baclofen(DB00181)|Progabide(DB00837) CAATGAGGAACCAGACGTACT 0.458000 12 43 0 0 1 0 0 NOTCH1 4851 broad.mit.edu 37 9 139412252 139412252 + Missense_Mutation SNP C C T TCGA-QK-AA3K-01A-11D-A391-08 TCGA-QK-AA3K-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b794eb4b-1c54-4989-88ed-28df2bd05b16 756ee1e0-9adb-4510-9f4d-e4de76961875 g.chr9:139412252C>T ENST00000277541.6 - 8 1468 c.1393G>A c.(1393-1395)Gcc>Acc p.A465T NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 465 EGF-like 12; calcium-binding (Potential). aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) AGGCAGGTGGCGTCGTTCTGG 0.672000 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 91 72 0 0 1 0 0 ABCA6 23460 broad.mit.edu 37 17 67124901 67124901 + Silent SNP G G A TCGA-QK-AA3K-01A-11D-A391-08 TCGA-QK-AA3K-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b794eb4b-1c54-4989-88ed-28df2bd05b16 756ee1e0-9adb-4510-9f4d-e4de76961875 g.chr17:67124901G>A ENST00000284425.2 - 8 1152 c.978C>T c.(976-978)gtC>gtT p.V326V NM_080284.2 NP_525023.2 Q8N139 ABCA6_HUMAN ATP-binding cassette, sub-family A (ABC1), member 6 326 transport integral to membrane ATP binding|ATPase activity breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 82 Breast(10;5.65e-12) AATTGGTGAGGACAGCTTTCT 0.398000 18 80 0 0 1 0 0 CIITA 4261 broad.mit.edu 37 16 11009437 11009437 + Missense_Mutation SNP G G C TCGA-QK-AA3K-01A-11D-A391-08 TCGA-QK-AA3K-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b794eb4b-1c54-4989-88ed-28df2bd05b16 756ee1e0-9adb-4510-9f4d-e4de76961875 g.chr16:11009437G>C ENST00000324288.8 + 14 3032 c.2899G>C c.(2899-2901)Gtc>Ctc p.V967L CIITA_ENST00000381835.5_Missense_Mutation_p.V383L NM_000246.3 NP_000237.2 P33076 C2TA_HUMAN class II, major histocompatibility complex, transactivator 967 Missing (in BLS2). interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent nucleus activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2) 12 GCTGGGCCCTGTCTCAGGCCC 0.597000 T """FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6""" """PMBL, Hodgkin Lymphona, """ 24 36 0 0 1 0 0 SH2B3 10019 broad.mit.edu 37 12 111885008 111885008 + Missense_Mutation SNP G G C TCGA-QK-AA3K-01A-11D-A391-08 TCGA-QK-AA3K-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b794eb4b-1c54-4989-88ed-28df2bd05b16 756ee1e0-9adb-4510-9f4d-e4de76961875 g.chr12:111885008G>C ENST00000341259.2 + 5 1363 c.1006G>C c.(1006-1008)Gat>Cat p.D336H SH2B3_ENST00000538307.1_Missense_Mutation_p.D134H NM_005475.2 NP_005466.1 Q9UQQ2 SH2B3_HUMAN SH2B adaptor protein 3 336 blood coagulation cytosol signal transducer activity central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|skin(1) 10 GGGCAGCACAGATTCCCTTAA 0.572000 40 49 0 0 1 0 0 ITGA4 3676 broad.mit.edu 37 2 182389978 182389978 + Missense_Mutation SNP G G C TCGA-QK-AA3K-01A-11D-A391-08 TCGA-QK-AA3K-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b794eb4b-1c54-4989-88ed-28df2bd05b16 756ee1e0-9adb-4510-9f4d-e4de76961875 g.chr2:182389978G>C ENST00000397033.2 + 21 2729 c.2299G>C c.(2299-2301)Gca>Cca p.A767P NM_000885.4 NP_000876.3 P13612 ITA4_HUMAN integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) 767 blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response integrin complex identical protein binding|receptor activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 OV - Ovarian serous cystadenocarcinoma(117;0.0593) Natalizumab(DB00108) AGTGACTGTAGCAATACCTTT 0.363000 3 21 0 0 1 0 0 UNC13C 440279 broad.mit.edu 37 15 54306941 54306941 + Missense_Mutation SNP A A T TCGA-QK-AA3K-01A-11D-A391-08 TCGA-QK-AA3K-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b794eb4b-1c54-4989-88ed-28df2bd05b16 756ee1e0-9adb-4510-9f4d-e4de76961875 g.chr15:54306941A>T ENST00000545554.1 + 1 1841 c.1841A>T c.(1840-1842)cAa>cTa p.Q614L UNC13C_ENST00000260323.11_Missense_Mutation_p.Q614L|UNC13C_ENST00000537900.1_Missense_Mutation_p.Q614L Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 614 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) CAGGGTATCCAAGGGCAGACT 0.498000 13 66 0 0 1 0 0 HABP2 3026 broad.mit.edu 37 10 115336941 115336941 + Missense_Mutation SNP C C T rs78201625 byFrequency TCGA-QK-AA3K-01A-11D-A391-08 TCGA-QK-AA3K-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b794eb4b-1c54-4989-88ed-28df2bd05b16 756ee1e0-9adb-4510-9f4d-e4de76961875 g.chr10:115336941C>T ENST00000351270.3 + 5 460 c.364C>T c.(364-366)Cgg>Tgg p.R122W HABP2_ENST00000542051.1_Missense_Mutation_p.R96W|HABP2_ENST00000537906.1_Silent_p.A110A|HABP2_ENST00000541666.1_Missense_Mutation_p.R122W NM_004132.3 NP_004123.1 Q14520 HABP2_HUMAN hyaluronan binding protein 2 122 EGF-like 2. cell adhesion|proteolysis extracellular space glycosaminoglycan binding|serine-type endopeptidase activity breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2) 23 Colorectal(252;0.0233)|Breast(234;0.0672) Epithelial(162;0.00319)|all cancers(201;0.0112) CCCATGTGGCCGGGGCCAATG 0.488000 8 106 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105413228 105413228 + Missense_Mutation SNP C C A TCGA-QK-AA3K-01A-11D-A391-08 TCGA-QK-AA3K-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b794eb4b-1c54-4989-88ed-28df2bd05b16 756ee1e0-9adb-4510-9f4d-e4de76961875 g.chr14:105413228C>A ENST00000333244.5 - 7 8679 c.8560G>T c.(8560-8562)Ggg>Tgg p.G2854W AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 2854 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) TTAAGATCCCCTTGCATGGAG 0.632000 33 299 8.73648e-17 1.02172e-16 1 1 0 KMT2D 8085 broad.mit.edu 37 12 49436343 49436343 + Splice_Site SNP C C T TCGA-QK-AA3K-01A-11D-A391-08 TCGA-QK-AA3K-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b794eb4b-1c54-4989-88ed-28df2bd05b16 756ee1e0-9adb-4510-9f4d-e4de76961875 g.chr12:49436343C>T ENST00000301067.7 - 27 5867 c.e27+1 NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D GAGACACCAACCTAGAATCCA 0.582000 13 14 0 0 1 0 0 TKTL2 84076 broad.mit.edu 37 4 164394587 164394587 + Missense_Mutation SNP G G T TCGA-QK-AA3K-01A-11D-A391-08 TCGA-QK-AA3K-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b794eb4b-1c54-4989-88ed-28df2bd05b16 756ee1e0-9adb-4510-9f4d-e4de76961875 g.chr4:164394587G>T ENST00000280605.3 - 1 460 c.300C>A c.(298-300)aaC>aaA p.N100K NM_032136.4 NP_115512.3 Q9H0I9 TKTL2_HUMAN transketolase-like 2 100 cytoplasm metal ion binding|transketolase activity breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 70 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) GTTTCCTCAGGTTCAGCAAGT 0.552000 24 24 1.64293e-13 1.84329e-13 1 1 0 WHSC1L1 54904 broad.mit.edu 37 8 38146050 38146050 + Silent SNP C C T TCGA-QK-AA3K-01A-11D-A391-08 TCGA-QK-AA3K-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b794eb4b-1c54-4989-88ed-28df2bd05b16 756ee1e0-9adb-4510-9f4d-e4de76961875 g.chr8:38146050C>T ENST00000317025.8 - 19 3973 c.3456G>A c.(3454-3456)acG>acA p.T1152T WHSC1L1_ENST00000433384.2_Silent_p.T1103T|WHSC1L1_ENST00000527502.1_Silent_p.T1152T NM_023034.1 NP_075447.1 Q9BZ95 NSD3_HUMAN Wolf-Hirschhorn syndrome candidate 1-like 1 1152 SET. cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome histone-lysine N-methyltransferase activity|zinc ion binding NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 24 Colorectal(12;0.000442)|Esophageal squamous(3;0.0725) all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065) Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511) CTCTCCGCTCCGTTTTGATGA 0.532000 T NUP98 AML 16 75 0 0 1 0 0 EXD2 55218 broad.mit.edu 37 14 69704454 69704454 + Silent SNP C C T TCGA-QK-AA3K-01A-11D-A391-08 TCGA-QK-AA3K-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b794eb4b-1c54-4989-88ed-28df2bd05b16 756ee1e0-9adb-4510-9f4d-e4de76961875 g.chr14:69704454C>T ENST00000409014.1 + 10 1737 c.1080C>T c.(1078-1080)atC>atT p.I360I EXD2_ENST00000492815.1_3'UTR|EXD2_ENST00000449989.1_Silent_p.I360I|EXD2_ENST00000409949.1_Silent_p.I360I|EXD2_ENST00000409675.1_Silent_p.I360I|EXD2_ENST00000409242.1_Silent_p.I360I|EXD2_ENST00000409018.3_Silent_p.I485I|EXD2_ENST00000312994.5_Silent_p.I485I NM_001193360.1 NP_001180289.1 Q9NVH0 EXD2_HUMAN exonuclease 3'-5' domain containing 2 360 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process intracellular 3'-5' exonuclease activity|nucleic acid binding breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|urinary_tract(1) 14 AGGCCCCCATCGGCTCTGAGG 0.632000 9 35 0 0 1 0 0 RNF216 54476 broad.mit.edu 37 7 5778919 5778919 + Missense_Mutation SNP T T C TCGA-QK-AA3K-01A-11D-A391-08 TCGA-QK-AA3K-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b794eb4b-1c54-4989-88ed-28df2bd05b16 756ee1e0-9adb-4510-9f4d-e4de76961875 g.chr7:5778919T>C ENST00000425013.2 - 5 1162 c.938A>G c.(937-939)tAt>tGt p.Y313C RNF216_ENST00000389902.3_Missense_Mutation_p.Y370C NM_207111.3|NM_207116.2 NP_996994.1|NP_996999.1 Q9NWF9 RN216_HUMAN ring finger protein 216 313 apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production cytoplasm|nucleus ligase activity|protein binding|zinc ion binding FBXL18/RNF216(2) breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4) 33 Ovarian(82;0.07) UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13) ATTCAGATCATAATAATTCTT 0.264000 40 44 0 0 1 0 0 NUP214 8021 broad.mit.edu 37 9 134019932 134019932 + Missense_Mutation SNP C C A TCGA-QK-AA3K-01A-11D-A391-08 TCGA-QK-AA3K-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b794eb4b-1c54-4989-88ed-28df2bd05b16 756ee1e0-9adb-4510-9f4d-e4de76961875 g.chr9:134019932C>A ENST00000359428.5 + 12 1704 c.1560C>A c.(1558-1560)ttC>ttA p.F520L RP11-544A12.4_ENST00000590461.1_RNA|NUP214_ENST00000451030.1_Missense_Mutation_p.F520L|RP11-544A12.4_ENST00000586290.1_RNA|RP11-544A12.4_ENST00000415391.2_RNA|RP11-544A12.4_ENST00000588378.1_RNA|RP11-544A12.4_ENST00000589540.1_RNA|RP11-544A12.4_ENST00000587264.1_RNA|NUP214_ENST00000411637.2_Missense_Mutation_p.F520L|RP11-544A12.4_ENST00000589667.1_RNA|RP11-544A12.4_ENST00000587408.1_RNA P35658 NU214_HUMAN nucleoporin 214kDa 520 11 X 5 AA approximate repeats. carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore|nucleoplasm protein binding NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 86 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256) CATCAACCTTCTCTTTTGTTC 0.557000 T """DEK, SET, ABL1""" """AML, T-ALL""" 74 62 7.62596e-35 9.23142e-35 1 1 0 RAPGEF1 2889 broad.mit.edu 37 9 134514093 134514093 + Missense_Mutation SNP C C T TCGA-QK-AA3K-01A-11D-A391-08 TCGA-QK-AA3K-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b794eb4b-1c54-4989-88ed-28df2bd05b16 756ee1e0-9adb-4510-9f4d-e4de76961875 g.chr9:134514093C>T ENST00000372195.1 - 5 823 c.580G>A c.(580-582)Gtg>Atg p.V194M RAPGEF1_ENST00000372189.3_Missense_Mutation_p.V177M|RAPGEF1_ENST00000372190.3_Missense_Mutation_p.V195M|RAPGEF1_ENST00000481260.1_5'UTR Q13905 RPGF1_HUMAN Rap guanine nucleotide exchange factor (GEF) 1 177 activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|endosome guanyl-nucleotide exchange factor activity|SH3 domain binding NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1) 39 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364) TCTGAGTTCACGCCTTCCAGC 0.552000 15 72 0 0 1 0 0 RBMS2 5939 broad.mit.edu 37 12 56980705 56980705 + Missense_Mutation SNP C C A TCGA-QK-AA3K-01A-11D-A391-08 TCGA-QK-AA3K-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b794eb4b-1c54-4989-88ed-28df2bd05b16 756ee1e0-9adb-4510-9f4d-e4de76961875 g.chr12:56980705C>A ENST00000262031.5 + 10 1041 c.946C>A c.(946-948)Cct>Act p.P316T RBMS2_ENST00000552247.2_Intron|RBMS2_ENST00000550726.1_Missense_Mutation_p.P191T|RBMS2_ENST00000542360.1_Missense_Mutation_p.P171T NM_002898.3 NP_002889.1 Q15434 RBMS2_HUMAN RNA binding motif, single stranded interacting protein 2 316 RNA processing nucleus nucleotide binding|RNA binding breast(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(3)|skin(2)|urinary_tract(1) 18 CCTCATGCAGCCTTCAGTGAG 0.448000 23 118 2.41591e-17 2.84954e-17 1 1 0 PRG4 10216 broad.mit.edu 37 1 186276064 186276064 + Missense_Mutation SNP G G T TCGA-QK-AA3K-01A-11D-A391-08 TCGA-QK-AA3K-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b794eb4b-1c54-4989-88ed-28df2bd05b16 756ee1e0-9adb-4510-9f4d-e4de76961875 g.chr1:186276064G>T ENST00000445192.2 + 7 1258 c.1213G>T c.(1213-1215)Gca>Tca p.A405S PRG4_ENST00000367483.4_Missense_Mutation_p.A364S|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Missense_Mutation_p.A312S|PRG4_ENST00000367486.3_Missense_Mutation_p.A362S NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 405 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 CAAGGAGCCTGCACCCACCAC 0.657000 4 139 0.00024832 0.000257655 1 1 0 FAHD2B 151313 broad.mit.edu 37 2 97757327 97757327 + Silent SNP C C T TCGA-QK-AA3K-01A-11D-A391-08 TCGA-QK-AA3K-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b794eb4b-1c54-4989-88ed-28df2bd05b16 756ee1e0-9adb-4510-9f4d-e4de76961875 g.chr2:97757327C>T ENST00000414820.1 - 3 387 c.117G>A c.(115-117)ggG>ggA p.G39G FAHD2B_ENST00000468548.1_Intron|FAHD2B_ENST00000440566.2_Silent_p.G39G|FAHD2B_ENST00000272610.3_Silent_p.G39G Q6P2I3 FAH2B_HUMAN fumarylacetoacetate hydrolase domain containing 2B 39 hydrolase activity|metal ion binding kidney(5)|large_intestine(2)|lung(3)|skin(2) 12 CCAAGTGAGGCCCCACCAGGT 0.567000 23 100 0 0 1 0 0 DAK 26007 broad.mit.edu 37 11 61113862 61113862 + Missense_Mutation SNP G G A TCGA-QK-AA3K-01A-11D-A391-08 TCGA-QK-AA3K-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b794eb4b-1c54-4989-88ed-28df2bd05b16 756ee1e0-9adb-4510-9f4d-e4de76961875 g.chr11:61113862G>A ENST00000394900.3 + 18 1844 c.1615G>A c.(1615-1617)Gct>Act p.A539T NM_015533.3 NP_056348.2 Q3LXA3 DHAK_HUMAN dihydroxyacetone kinase 2 homolog (S. cerevisiae) 539 DhaL. glycerol metabolic process cytosol ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1) 23 GAATATGGAAGCTGGAGCCGG 0.647000 38 152 0 0 1 0 0 TRGV5 6978 broad.mit.edu 37 7 38388991 38388991 + RNA SNP C C T TCGA-QK-AA3K-01A-11D-A391-08 TCGA-QK-AA3K-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b794eb4b-1c54-4989-88ed-28df2bd05b16 756ee1e0-9adb-4510-9f4d-e4de76961875 g.chr7:38388991C>T ENST00000390344.2 - 0 516 ACCCCAGAATCATTTTCAATT 0.458000 11 9 0 0 1 0 0 EIF4A3 9775 broad.mit.edu 37 17 78111189 78111189 + Missense_Mutation SNP C C T TCGA-QK-AA3K-01A-11D-A391-08 TCGA-QK-AA3K-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b794eb4b-1c54-4989-88ed-28df2bd05b16 756ee1e0-9adb-4510-9f4d-e4de76961875 g.chr17:78111189C>T ENST00000269349.3 - 9 1200 c.979G>A c.(979-981)Gcc>Acc p.A327T NM_014740.3 NP_055555.1 P38919 IF4A3_HUMAN eukaryotic translation initiation factor 4A3 327 Helicase C-terminal. mRNA transport|negative regulation of translation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|rRNA processing catalytic step 2 spliceosome|cytoplasm|exon-exon junction complex|nuclear speck ATP binding|ATP-dependent RNA helicase activity|poly(A) RNA binding|protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 10 all_neural(118;0.117) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139) ACCCACCTGGCGCCCGACCGG 0.562000 15 54 0 0 1 0 0 HERC3 8916 broad.mit.edu 37 4 89574019 89574019 + Splice_Site SNP G G C TCGA-QK-AA3K-01A-11D-A391-08 TCGA-QK-AA3K-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b794eb4b-1c54-4989-88ed-28df2bd05b16 756ee1e0-9adb-4510-9f4d-e4de76961875 g.chr4:89574019G>C ENST00000402738.1 + 6 702 c.e6-1 HERC3_ENST00000407637.1_Splice_Site|HERC3_ENST00000264345.3_Splice_Site NM_001271602.1|NM_014606.1 NP_001258531.1|NP_055421.1 Q15034 HERC3_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 3 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasmic membrane-bounded vesicle ubiquitin-protein ligase activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2) 45 OV - Ovarian serous cystadenocarcinoma(123;0.000319) TGTTATTTCAGATGGCCAGTT 0.493000 6 16 0 0 1 0 0 PTPRG 5793 broad.mit.edu 37 3 62188867 62188867 + Silent SNP T T C TCGA-QK-AA3K-01A-11D-A391-08 TCGA-QK-AA3K-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b794eb4b-1c54-4989-88ed-28df2bd05b16 756ee1e0-9adb-4510-9f4d-e4de76961875 g.chr3:62188867T>C ENST00000474889.1 + 12 1775 c.1398T>C c.(1396-1398)tcT>tcC p.S466S PTPRG_ENST00000295874.10_Silent_p.S466S NM_002841.3 NP_002832.3 P23470 PTPRG_HUMAN protein tyrosine phosphatase, receptor type, G 466 transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane identical protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065) CTCCTGCCTCTTCAGCCGACA 0.552000 25 100 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13700787 13700787 + Missense_Mutation SNP T T C TCGA-QK-AA3K-01A-11D-A391-08 TCGA-QK-AA3K-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b794eb4b-1c54-4989-88ed-28df2bd05b16 756ee1e0-9adb-4510-9f4d-e4de76961875 g.chr5:13700787T>C ENST00000265104.4 - 78 13789 c.13685A>G c.(13684-13686)gAg>gGg p.E4562G NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 4562 microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) AGGCATCAACTCAAAGAGCAC 0.418000 Kartagener syndrome 38 215 0 0 1 0 0 PTPRH 5794 broad.mit.edu 37 19 55707926 55707926 + Missense_Mutation SNP C C T rs147064563 TCGA-QK-AA3K-01A-11D-A391-08 TCGA-QK-AA3K-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b794eb4b-1c54-4989-88ed-28df2bd05b16 756ee1e0-9adb-4510-9f4d-e4de76961875 g.chr19:55707926C>T ENST00000376350.3 - 10 2243 c.2221G>A c.(2221-2223)Gtg>Atg p.V741M PTPRH_ENST00000263434.5_Missense_Mutation_p.V563M|PTPRH_ENST00000588559.1_5'UTR NM_002842.3 NP_002833.3 Q9HD43 PTPRH_HUMAN protein tyrosine phosphatase, receptor type, H 741 Fibronectin type-III 8. apoptosis cytoplasm|integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 67 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0479) GAGTGAGACACGACCTTCATT 0.617000 21 80 0 0 1 0 0 SSSCA1 10534 broad.mit.edu 37 11 65339025 65339025 + Silent SNP T T G TCGA-QK-AA3K-01A-11D-A391-08 TCGA-QK-AA3K-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b794eb4b-1c54-4989-88ed-28df2bd05b16 756ee1e0-9adb-4510-9f4d-e4de76961875 g.chr11:65339025T>G ENST00000531405.1 + 3 545 c.309T>G c.(307-309)gcT>gcG p.A103A SSSCA1_ENST00000526877.1_3'UTR|SSSCA1_ENST00000527920.1_Intron|SSSCA1_ENST00000309328.3_Silent_p.A140A O60232 SSA27_HUMAN Sjogren syndrome/scleroderma autoantigen 1 140 cell division|mitosis protein binding kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(1) 8 GGCCACCTGCTCCTGCTGTGC 0.647000 31 109 0 0 1 0 0 OR6B3 150681 broad.mit.edu 37 2 240984729 240984729 + Missense_Mutation SNP G G A TCGA-QK-AA3K-01A-11D-A391-08 TCGA-QK-AA3K-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b794eb4b-1c54-4989-88ed-28df2bd05b16 756ee1e0-9adb-4510-9f4d-e4de76961875 g.chr2:240984729G>A ENST00000319423.4 - 1 760 c.761C>T c.(760-762)gCc>gTc p.A254V NM_173351.1 NP_775486.1 Q8NGW1 OR6B3_HUMAN olfactory receptor, family 6, subfamily B, member 3 254 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(10)|lung(4)|ovary(2)|prostate(1) 18 all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238) Epithelial(121;1.05e-29)|all cancers(36;3.52e-28)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141) GAAAAGCAAGGCTGTATAGAA 0.572000 18 47 0 0 1 0 0 PCDH11X 27328 broad.mit.edu 37 X 91132925 91132925 + Missense_Mutation SNP T T G TCGA-QK-AA3K-01A-11D-A391-08 TCGA-QK-AA3K-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b794eb4b-1c54-4989-88ed-28df2bd05b16 756ee1e0-9adb-4510-9f4d-e4de76961875 g.chrX:91132925T>G ENST00000373094.1 + 2 2531 c.1686T>G c.(1684-1686)gaT>gaG p.D562E PCDH11X_ENST00000298274.8_Missense_Mutation_p.D562E|PCDH11X_ENST00000406881.1_Missense_Mutation_p.D562E|PCDH11X_ENST00000361724.1_Missense_Mutation_p.D562E|PCDH11X_ENST00000373088.1_Missense_Mutation_p.D562E|PCDH11X_ENST00000395337.2_Missense_Mutation_p.D562E|PCDH11X_ENST00000373097.1_Missense_Mutation_p.D562E|PCDH11X_ENST00000504220.1_Missense_Mutation_p.D562E|PCDH11X_ENST00000361655.2_Missense_Mutation_p.D562E NM_032968.3 NP_116750.1 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked 562 Cadherin 5. homophilic cell adhesion integral to plasma membrane calcium ion binding NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 159 GCATTATTGATCAGAATGACA 0.378000 19 28 0 0 1 0 0 BMS1P20 96610 broad.mit.edu 37 22 22663087 22663087 + RNA SNP A A G rs1054158 TCGA-QK-AA3K-01A-11D-A391-08 TCGA-QK-AA3K-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b794eb4b-1c54-4989-88ed-28df2bd05b16 756ee1e0-9adb-4510-9f4d-e4de76961875 g.chr22:22663087A>G ENST00000426066.1 + 0 526 NR_027293.1 GCTGCCACATAAGTTGTCCTT 0.303000 7 15 0 0 1 0 0 FARP1 10160 broad.mit.edu 37 13 99017671 99017671 + Missense_Mutation SNP C C T TCGA-QK-AA3K-01A-11D-A391-08 TCGA-QK-AA3K-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b794eb4b-1c54-4989-88ed-28df2bd05b16 756ee1e0-9adb-4510-9f4d-e4de76961875 g.chr13:99017671C>T ENST00000376586.2 + 4 635 c.299C>T c.(298-300)cCc>cTc p.P100L FARP1_ENST00000595437.1_Missense_Mutation_p.P100L|FARP1_ENST00000319562.6_Missense_Mutation_p.P100L Q9Y4F1 FARP1_HUMAN FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived) 100 FERM. regulation of Rho protein signal transduction cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1) 49 all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.233) CTCCTAAAACCCATTGTGAAA 0.368000 29 58 0 0 1 0 0 CNOT1 23019 broad.mit.edu 37 16 58610459 58610459 + Missense_Mutation SNP T T C TCGA-QK-AA3K-01A-11D-A391-08 TCGA-QK-AA3K-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b794eb4b-1c54-4989-88ed-28df2bd05b16 756ee1e0-9adb-4510-9f4d-e4de76961875 g.chr16:58610459T>C ENST00000317147.5 - 14 1944 c.1612A>G c.(1612-1614)Atc>Gtc p.I538V CNOT1_ENST00000569240.1_Missense_Mutation_p.I538V|CNOT1_ENST00000441024.2_Missense_Mutation_p.I538V NM_001265612.1|NM_016284.4 NP_001252541.1|NP_057368.3 A5YKK6 CNOT1_HUMAN CCR4-NOT transcription complex, subunit 1 538 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2) 87 Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239) GCATGCATGATAAGTTGGCGA 0.423000 10 61 0 0 1 0 0 CCDC13 152206 broad.mit.edu 37 3 42788812 42788812 + Missense_Mutation SNP C C G TCGA-QK-AA3K-01A-11D-A391-08 TCGA-QK-AA3K-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b794eb4b-1c54-4989-88ed-28df2bd05b16 756ee1e0-9adb-4510-9f4d-e4de76961875 g.chr3:42788812C>G ENST00000310232.6 - 6 740 c.657G>C c.(655-657)ttG>ttC p.L219F NM_144719.3 NP_653320.3 Q8IYE1 CCD13_HUMAN coiled-coil domain containing 13 219 endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1) 25 CACTCATCTTCAAGTTGGTGG 0.557000 11 45 0 0 1 0 0 WWP2 11060 broad.mit.edu 37 16 69971036 69971036 + Nonsense_Mutation SNP G G A TCGA-QK-AA3K-01A-11D-A391-08 TCGA-QK-AA3K-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b794eb4b-1c54-4989-88ed-28df2bd05b16 756ee1e0-9adb-4510-9f4d-e4de76961875 g.chr16:69971036G>A ENST00000359154.2 + 20 2234 c.2133G>A c.(2131-2133)tgG>tgA p.W711* WWP2_ENST00000542271.1_Nonsense_Mutation_p.W595*|WWP2_ENST00000356003.2_Nonsense_Mutation_p.W711*|WWP2_ENST00000568684.1_Nonsense_Mutation_p.W272*|WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000448661.1_Nonsense_Mutation_p.W711* NM_001270454.1|NM_007014.4 NP_001257383.1|NP_008945.2 O00308 WWP2_HUMAN WW domain containing E3 ubiquitin protein ligase 2 711 HECT. entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus|ubiquitin ligase complex RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 TGACTGACTGGCGTTTCACCC 0.637000 13 34 0 0 1 0 0 BRS3 680 broad.mit.edu 37 X 135570640 135570640 + Missense_Mutation SNP C C T TCGA-QK-AA3K-01A-11D-A391-08 TCGA-QK-AA3K-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b794eb4b-1c54-4989-88ed-28df2bd05b16 756ee1e0-9adb-4510-9f4d-e4de76961875 g.chrX:135570640C>T ENST00000370648.3 + 1 595 c.367C>T c.(367-369)Ctc>Ttc p.L123F NM_001727.1 NP_001718.1 P32247 BRS3_HUMAN bombesin-like receptor 3 123 adult feeding behavior|glucose metabolic process|regulation of blood pressure integral to membrane|plasma membrane bombesin receptor activity endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(1) 23 Acute lymphoblastic leukemia(192;0.000127) TTGTAAGGTGCTCTCTTTCAT 0.448000 26 36 0 0 1 0 0 WASH3P 374666 broad.mit.edu 37 15 102516424 102516424 + RNA SNP G G T TCGA-QK-AA3K-01A-11D-A391-08 TCGA-QK-AA3K-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b794eb4b-1c54-4989-88ed-28df2bd05b16 756ee1e0-9adb-4510-9f4d-e4de76961875 g.chr15:102516424G>T ENST00000557932.1 + 0 1372 p.P449P(4) central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1) 25 TGCCGCCACCGCAGCAGCCAC 0.647000 6 74 0.000157383 0.000164537 1 1 0 AKAP5 9495 broad.mit.edu 37 14 64935239 64935239 + Missense_Mutation SNP G G A TCGA-QK-AA3K-01A-11D-A391-08 TCGA-QK-AA3K-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b794eb4b-1c54-4989-88ed-28df2bd05b16 756ee1e0-9adb-4510-9f4d-e4de76961875 g.chr14:64935239G>A ENST00000320636.5 + 1 1415 c.127G>A c.(127-129)Gca>Aca p.A43T ZBTB25_ENST00000555220.1_Intron|ZBTB25_ENST00000555424.1_Intron|AKAP5_ENST00000394718.3_Missense_Mutation_p.A43T P24588 AKAP5_HUMAN A kinase (PRKA) anchor protein 5 43 Essential to the intracellular anchoring function (By similarity). energy reserve metabolic process|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting|regulation of insulin secretion|signal transduction|synaptic transmission cytosol adenylate cyclase binding|calmodulin binding endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|stomach(1) 13 all cancers(60;0.00749)|OV - Ovarian serous cystadenocarcinoma(108;0.0095)|BRCA - Breast invasive adenocarcinoma(234;0.0449) AAGAAAGAAAGCAGCCAAAGC 0.502000 21 47 0 0 1 0 0 PIK3CA 5290 broad.mit.edu 37 3 178952085 178952085 + Missense_Mutation SNP A A G rs121913279 TCGA-QK-AA3K-01A-11D-A391-08 TCGA-QK-AA3K-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b794eb4b-1c54-4989-88ed-28df2bd05b16 756ee1e0-9adb-4510-9f4d-e4de76961875 g.chr3:178952085A>G ENST00000263967.3 + 21 3297 c.3140A>G c.(3139-3141)cAt>cGt p.H1047R NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 1047 PI3K/PI4K. H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer). 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.H1047R(1387)|p.H1047L(194)|p.H1047P(1) 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) AATGATGCACATCATGGTGGC 0.378000 H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST) 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 9 32 0 0 1 0 0 EXOC5 10640 broad.mit.edu 37 14 57689026 57689026 + Splice_Site SNP C C A TCGA-QK-AA3K-01A-11D-A391-08 TCGA-QK-AA3K-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b794eb4b-1c54-4989-88ed-28df2bd05b16 756ee1e0-9adb-4510-9f4d-e4de76961875 g.chr14:57689026C>A ENST00000413566.2 - 13 1764 c.1405_splice c.e13+1 p.G469_splice EXOC5_ENST00000340918.7_Splice_Site_p.G404_splice NM_006544.3 NP_006535.1 O00471 EXOC5_HUMAN exocyst complex component 5 469 exocytosis|post-Golgi vesicle-mediated transport|protein transport|vesicle docking cytoplasm breast(3)|endometrium(1)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 22 ATATACTTACCAGCAAGTCCT 0.323000 14 28 0.00244969 0.00246758 1 1 0 AKAP9 10142 broad.mit.edu 37 7 91714839 91714839 + Missense_Mutation SNP A A T TCGA-QK-AA3K-01A-11D-A391-08 TCGA-QK-AA3K-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b794eb4b-1c54-4989-88ed-28df2bd05b16 756ee1e0-9adb-4510-9f4d-e4de76961875 g.chr7:91714839A>T ENST00000359028.2 + 36 9100 c.8875A>T c.(8875-8877)Atg>Ttg p.M2959L AKAP9_ENST00000356239.3_Missense_Mutation_p.M2955L|AKAP9_ENST00000358100.2_Missense_Mutation_p.M2905L Q99996 AKAP9_HUMAN A kinase (PRKA) anchor protein 9 2959 G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2) 155 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) TAATGAAGGCATGCAGGTGCT 0.423000 T BRAF papillary thyroid 16 58 0 0 1 0 0 KCNF1 3754 broad.mit.edu 37 2 11053622 11053622 + Missense_Mutation SNP T T A TCGA-QK-AA3K-01A-11D-A391-08 TCGA-QK-AA3K-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b794eb4b-1c54-4989-88ed-28df2bd05b16 756ee1e0-9adb-4510-9f4d-e4de76961875 g.chr2:11053622T>A ENST00000295082.1 + 1 1560 c.1070T>A c.(1069-1071)aTc>aAc p.I357N NM_002236.4 NP_002227.2 Q9H3M0 KCNF1_HUMAN potassium voltage-gated channel, subfamily F, member 1 357 voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1) 19 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128) TTTAAGAGCATCCCCCAGTCC 0.602000 13 42 0 0 1 0 0 NSUN6 221078 broad.mit.edu 37 10 18931445 18931445 + Missense_Mutation SNP C C G TCGA-QK-AA3K-01A-11D-A391-08 TCGA-QK-AA3K-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b794eb4b-1c54-4989-88ed-28df2bd05b16 756ee1e0-9adb-4510-9f4d-e4de76961875 g.chr10:18931445C>G ENST00000377304.4 - 3 689 c.271G>C c.(271-273)Gac>Cac p.D91H RP11-139J15.7_ENST00000606425.1_Missense_Mutation_p.D79H NM_182543.2 NP_872349.1 Q8TEA1 NSUN6_HUMAN NOP2/Sun domain family, member 6 91 methyltransferase activity|RNA binding endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 15 TCTTGAAGGTCTGGATGTTGA 0.313000 27 81 0 0 1 0 0 TNXB 7148 broad.mit.edu 37 6 32064720 32064720 + Missense_Mutation SNP C C T TCGA-QK-AA3K-01A-11D-A391-08 TCGA-QK-AA3K-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b794eb4b-1c54-4989-88ed-28df2bd05b16 756ee1e0-9adb-4510-9f4d-e4de76961875 g.chr6:32064720C>T ENST00000375244.3 - 3 1111 c.910G>A c.(910-912)Gag>Aag p.E304K TNXB_ENST00000375247.2_Missense_Mutation_p.E304K|TNXB_ENST00000479795.1_Missense_Mutation_p.E304K P22105 TENX_HUMAN tenascin XB 304 EGF-like 5. 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 CCACAGTCCTCGCCAGTGTAG 0.682000 9 41 0 0 1 0 0 ANO5 203859 broad.mit.edu 37 11 22242681 22242681 + Silent SNP C C T TCGA-QK-AA3K-01A-11D-A391-08 TCGA-QK-AA3K-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b794eb4b-1c54-4989-88ed-28df2bd05b16 756ee1e0-9adb-4510-9f4d-e4de76961875 g.chr11:22242681C>T ENST00000324559.8 + 5 536 c.219C>T c.(217-219)ttC>ttT p.F73F NM_001142649.1|NM_213599.2 NP_001136121.1|NP_998764.1 Q75V66 ANO5_HUMAN anoctamin 5 73 chloride channel complex|endoplasmic reticulum membrane chloride channel activity breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 CTATCTTCTTCCGAGATGGGA 0.358000 9 9 0 0 1 0 0 ZNF737 100129842 broad.mit.edu 37 19 20728017 20728017 + Missense_Mutation SNP T T C TCGA-QK-AA3K-01A-11D-A391-08 TCGA-QK-AA3K-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b794eb4b-1c54-4989-88ed-28df2bd05b16 756ee1e0-9adb-4510-9f4d-e4de76961875 g.chr19:20728017T>C ENST00000427401.4 - 4 1086 c.992A>G c.(991-993)cAt>cGt p.H331R NM_001159293.1 NP_001152765.1 C9JHM3 C9JHM3_HUMAN zinc finger protein 737 331 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1) 13 AATTCTTTTATGTGTAGTAAG 0.393000 20 27 0 0 1 0 0 ASTN1 460 broad.mit.edu 37 1 176838147 176838147 + Missense_Mutation SNP G G C TCGA-QK-AA3K-01A-11D-A391-08 TCGA-QK-AA3K-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b794eb4b-1c54-4989-88ed-28df2bd05b16 756ee1e0-9adb-4510-9f4d-e4de76961875 g.chr1:176838147G>C ENST00000367654.2 - 22 3517 c.3504C>G c.(3502-3504)atC>atG p.I1168M ASTN1_ENST00000424564.2_Missense_Mutation_p.I1160M|ASTN1_ENST00000361833.2_Missense_Mutation_p.I1160M|ASTN1_ENST00000367657.3_Missense_Mutation_p.I1160M O14525 ASTN1_HUMAN astrotactin 1 1168 cell migration|neuron cell-cell adhesion integral to membrane NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 AGAGATTGTAGATCTTGTCTG 0.403000 7 67 0 0 1 0 0 SLC22A18 5002 broad.mit.edu 37 11 2946328 2946328 + Silent SNP C C T TCGA-QK-AA3K-01A-11D-A391-08 TCGA-QK-AA3K-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b794eb4b-1c54-4989-88ed-28df2bd05b16 756ee1e0-9adb-4510-9f4d-e4de76961875 g.chr11:2946328C>T ENST00000380574.1 + 11 1607 c.1176C>T c.(1174-1176)ggC>ggT p.G392G SLC22A18_ENST00000312221.5_Silent_p.G392G|SLC22A18_ENST00000347936.2_Silent_p.G392G|SLC22A18_ENST00000449793.2_Silent_p.G294G|SLC22A18_ENST00000441077.1_3'UTR Q96BI1 S22AI_HUMAN solute carrier family 22, member 18 392 excretion|organic cation transport apical plasma membrane|cytoplasmic part|integral to membrane|nuclear envelope drug:hydrogen antiporter activity|symporter activity|ubiquitin protein ligase binding central_nervous_system(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1) 8 all_epithelial(84;0.000124)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)|all_lung(207;0.198) BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.192) GCAGCTTTGGCGTCCCCGTCT 0.627000 14 114 0 0 1 0 0 PCDHA13 56136 broad.mit.edu 37 5 140262811 140262811 + Missense_Mutation SNP G G A TCGA-QK-AA3K-01A-11D-A391-08 TCGA-QK-AA3K-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b794eb4b-1c54-4989-88ed-28df2bd05b16 756ee1e0-9adb-4510-9f4d-e4de76961875 g.chr5:140262811G>A ENST00000289272.2 + 1 958 c.958G>A c.(958-960)Gtg>Atg p.V320M PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.V320M|PCDHA5_ENST00000529619.1_Intron|PCDHA12_ENST00000398631.2_Intron NM_018904.2|NM_031865.1 NP_061727.1|NP_114071.1 NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 95 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGAAATATCCGTGGAGGCAGT 0.398000 21 77 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7579358 7579358 + Missense_Mutation SNP C C A rs11540654 TCGA-QK-AA3K-01A-11D-A391-08 TCGA-QK-AA3K-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b794eb4b-1c54-4989-88ed-28df2bd05b16 756ee1e0-9adb-4510-9f4d-e4de76961875 g.chr17:7579358C>A ENST00000420246.2 - 4 461 c.329G>T c.(328-330)cGt>cTt p.R110L TP53_ENST00000359597.4_Missense_Mutation_p.R110L|TP53_ENST00000269305.4_Missense_Mutation_p.R110L|TP53_ENST00000455263.2_Missense_Mutation_p.R110L|TP53_ENST00000413465.2_Missense_Mutation_p.R110L|TP53_ENST00000445888.2_Missense_Mutation_p.R110L NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 110 Interaction with HIPK1 (By similarity).|Interaction with WWOX. R -> C (in sporadic cancers; somatic mutation).|R -> G (in a sporadic cancer; somatic mutation).|R -> H (in sporadic cancers; somatic mutation).|R -> L (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation; dbSNP:rs11540654).|R -> S (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R110L(36)|p.R110P(9)|p.0?(8)|p.G59fs*23(3)|p.R110fs*13(2)|p.F109_R110delFR(2)|p.R110H(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.Y107fs*44(1)|p.R110fs*39(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y107fs*38(1)|p.Y103_L111>L(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GAAGCCCAGACGGAAACCGTA 0.612000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 34 47 1.45844e-13 1.64971e-13 1 1 0 ZRANB2 9406 broad.mit.edu 37 1 71536551 71536551 + Silent SNP T T C TCGA-QK-AA3K-01A-11D-A391-08 TCGA-QK-AA3K-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b794eb4b-1c54-4989-88ed-28df2bd05b16 756ee1e0-9adb-4510-9f4d-e4de76961875 g.chr1:71536551T>C ENST00000370920.3 - 7 943 c.642A>G c.(640-642)tcA>tcG p.S214S ZRANB2_ENST00000254821.6_Silent_p.S214S NM_203350.2 NP_976225.1 O95218 ZRAB2_HUMAN zinc finger, RAN-binding domain containing 2 214 Arg/Ser-rich.|Required for nuclear targeting. mRNA processing|RNA splicing nucleus protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|stomach(1) 15 ATGAGCGTGATGAAGATCGTG 0.393000 30 84 0 0 1 0 0 NUP133 55746 broad.mit.edu 37 1 229588313 229588313 + Missense_Mutation SNP G G T TCGA-QK-AA3K-01A-11D-A391-08 TCGA-QK-AA3K-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b794eb4b-1c54-4989-88ed-28df2bd05b16 756ee1e0-9adb-4510-9f4d-e4de76961875 g.chr1:229588313G>T ENST00000261396.3 - 22 3149 c.3058C>A c.(3058-3060)Ctc>Atc p.L1020I NUP133_ENST00000366679.1_Missense_Mutation_p.L949I|NUP133_ENST00000537506.1_Missense_Mutation_p.L1004I NM_018230.2 NP_060700.2 Q8WUM0 NU133_HUMAN nucleoporin 133kDa 1020 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex nucleocytoplasmic transporter activity|protein binding NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4) 56 Breast(184;0.104)|Ovarian(103;0.249) Prostate(94;0.167) ATCGCACTGAGATTTAGCTGT 0.448000 17 58 3.32936e-07 3.61773e-07 1 1 0 MUC4 4585 broad.mit.edu 37 3 195508187 195508187 + Missense_Mutation SNP C C T TCGA-QK-AA3K-01A-11D-A391-08 TCGA-QK-AA3K-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b794eb4b-1c54-4989-88ed-28df2bd05b16 756ee1e0-9adb-4510-9f4d-e4de76961875 g.chr3:195508187C>T ENST00000463781.3 - 2 10723 c.10264G>A c.(10264-10266)Gcc>Acc p.A3422T MUC4_ENST00000475231.1_Missense_Mutation_p.A3422T|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 190 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) AGAGGGGTGGCGTGACCTGTG 0.582000 3 4 0 0 1 0 0 AKAP5 9495 broad.mit.edu 37 14 64935240 64935240 + Missense_Mutation SNP C C A TCGA-QK-AA3K-01A-11D-A391-08 TCGA-QK-AA3K-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b794eb4b-1c54-4989-88ed-28df2bd05b16 756ee1e0-9adb-4510-9f4d-e4de76961875 g.chr14:64935240C>A ENST00000320636.5 + 1 1416 c.128C>A c.(127-129)gCa>gAa p.A43E ZBTB25_ENST00000555220.1_Intron|ZBTB25_ENST00000555424.1_Intron|AKAP5_ENST00000394718.3_Missense_Mutation_p.A43E P24588 AKAP5_HUMAN A kinase (PRKA) anchor protein 5 43 Essential to the intracellular anchoring function (By similarity). energy reserve metabolic process|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting|regulation of insulin secretion|signal transduction|synaptic transmission cytosol adenylate cyclase binding|calmodulin binding endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|stomach(1) 13 all cancers(60;0.00749)|OV - Ovarian serous cystadenocarcinoma(108;0.0095)|BRCA - Breast invasive adenocarcinoma(234;0.0449) AGAAAGAAAGCAGCCAAAGCA 0.507000 21 50 1.96292e-10 2.16707e-10 1 1 0 PPHLN1 51535 broad.mit.edu 37 12 42745769 42745769 + Missense_Mutation SNP A A T TCGA-QK-AA3K-01A-11D-A391-08 TCGA-QK-AA3K-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b794eb4b-1c54-4989-88ed-28df2bd05b16 756ee1e0-9adb-4510-9f4d-e4de76961875 g.chr12:42745769A>T ENST00000395568.2 + 3 239 c.155A>T c.(154-156)tAt>tTt p.Y52F PPHLN1_ENST00000395580.3_Missense_Mutation_p.Y59F|PPHLN1_ENST00000317560.9_Intron|PPHLN1_ENST00000256678.8_Intron|PPHLN1_ENST00000552761.1_Intron|PPHLN1_ENST00000550535.1_3'UTR|PPHLN1_ENST00000432191.2_Intron|PPHLN1_ENST00000337898.6_Intron|PPHLN1_ENST00000449194.2_Missense_Mutation_p.Y52F|PPHLN1_ENST00000358314.7_Missense_Mutation_p.Y52F|PPHLN1_ENST00000549190.1_Missense_Mutation_p.Y70F NM_016488.6 NP_057572.5 Q8NEY8 PPHLN_HUMAN periphilin 1 52 keratinization cytoplasm|nucleus breast(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1) 16 all_cancers(12;0.00049)|Breast(8;0.165) Lung NSC(34;0.123) GBM - Glioblastoma multiforme(48;0.0875) TACAATAGATATTACAGTCAT 0.423000 48 37 0 0 1 0 0 OR6N2 81442 broad.mit.edu 37 1 158746644 158746644 + Missense_Mutation SNP C C T rs141853976 TCGA-QK-AA3K-01A-11D-A391-08 TCGA-QK-AA3K-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b794eb4b-1c54-4989-88ed-28df2bd05b16 756ee1e0-9adb-4510-9f4d-e4de76961875 g.chr1:158746644C>T ENST00000339258.1 - 1 781 c.782G>A c.(781-783)cGg>cAg p.R261Q NM_001005278.1 NP_001005278.1 Q8NGY6 OR6N2_HUMAN olfactory receptor, family 6, subfamily N, member 2 261 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R261Q(1) endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_hematologic(112;0.0378) CTTCTTTAGCCGCACATACAT 0.433000 13 44 0 0 1 0 0 RYR3 6263 broad.mit.edu 37 15 34105109 34105109 + Missense_Mutation SNP G G A TCGA-QK-AA3K-01A-11D-A391-08 TCGA-QK-AA3K-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b794eb4b-1c54-4989-88ed-28df2bd05b16 756ee1e0-9adb-4510-9f4d-e4de76961875 g.chr15:34105109G>A ENST00000389232.4 + 73 10373 c.10303G>A c.(10303-10305)Gtt>Att p.V3435I RYR3_ENST00000415757.3_Missense_Mutation_p.V3430I NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 3435 cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) CTACAAGGATGTTCTGAAGAG 0.433000 11 33 0 0 1 0 0 DMRTA1 63951 broad.mit.edu 37 9 22447696 22447696 + Missense_Mutation SNP A A C TCGA-QK-AA3K-01A-11D-A391-08 TCGA-QK-AA3K-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b794eb4b-1c54-4989-88ed-28df2bd05b16 756ee1e0-9adb-4510-9f4d-e4de76961875 g.chr9:22447696A>C ENST00000325870.1 + 1 857 c.632A>C c.(631-633)gAa>gCa p.E211A NM_022160.2 NP_071443.2 Q5VZB9 DMRTA_HUMAN DMRT-like family A1 211 cell differentiation|sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity breast(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 15 all_cancers(5;4.09e-243)|Acute lymphoblastic leukemia(3;8.25e-150)|all_hematologic(3;4.25e-147)|Esophageal squamous(3;2.32e-09)|Renal(3;1.71e-07)|Breast(3;2.07e-06)|Hepatocellular(5;0.00563) GBM - Glioblastoma multiforme(1;5.12e-278)|Lung(24;8.2e-52)|LUSC - Lung squamous cell carcinoma(38;1.46e-37)|OV - Ovarian serous cystadenocarcinoma(39;0.0517) CCCGCTTTCGAAGTTTTCCAG 0.542000 34 43 0 0 1 0 0 CRADD 8738 broad.mit.edu 37 12 94072588 94072588 + Missense_Mutation SNP G G A TCGA-QK-AA3K-01A-11D-A391-08 TCGA-QK-AA3K-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b794eb4b-1c54-4989-88ed-28df2bd05b16 756ee1e0-9adb-4510-9f4d-e4de76961875 g.chr12:94072588G>A ENST00000542893.2 + 2 356 c.38G>A c.(37-39)cGc>cAc p.R13H CRADD_ENST00000548483.1_Missense_Mutation_p.R13H|CRADD_ENST00000552033.1_Missense_Mutation_p.R13H|CRADD_ENST00000332896.3_Missense_Mutation_p.R13H|CRADD_ENST00000541813.1_Missense_Mutation_p.R13H|CRADD_ENST00000552983.1_Missense_Mutation_p.R13H P78560 CRADD_HUMAN CASP2 and RIPK1 domain containing adaptor with death domain 13 CARD. apoptosis|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|signal transduction intracellular death domain binding|protease binding|protein binding, bridging endometrium(1)|large_intestine(5)|lung(1)|ovary(1) 8 CGCTCACTTCGCCTGGAGCTG 0.473000 36 34 0 0 1 0 0 EGR1 1958 broad.mit.edu 37 5 137801607 137801607 + Missense_Mutation SNP G G C TCGA-QK-AA3K-01A-11D-A391-08 TCGA-QK-AA3K-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b794eb4b-1c54-4989-88ed-28df2bd05b16 756ee1e0-9adb-4510-9f4d-e4de76961875 g.chr5:137801607G>C ENST00000239938.4 + 1 429 c.157G>C c.(157-159)Ggg>Cgg p.G53R NM_001964.2 NP_001955.1 P18146 EGR1_HUMAN early growth response 1 53 cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway cytoplasm|nucleus histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) CGGCGCCGCCGGGGCCCCAGA 0.682000 19 47 0 0 1 0 0 TMC1 117531 broad.mit.edu 37 9 75431091 75431091 + Silent SNP C C T TCGA-QK-AA3K-01A-11D-A391-08 TCGA-QK-AA3K-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b794eb4b-1c54-4989-88ed-28df2bd05b16 756ee1e0-9adb-4510-9f4d-e4de76961875 g.chr9:75431091C>T ENST00000297784.5 + 19 2268 c.1728C>T c.(1726-1728)aaC>aaT p.N576N TMC1_ENST00000486417.1_3'UTR|TMC1_ENST00000340019.3_Silent_p.N576N|TMC1_ENST00000396237.3_Silent_p.N576N NM_138691.2 NP_619636.2 Q8TDI8 TMC1_HUMAN transmembrane channel-like 1 576 sensory perception of sound integral to membrane NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 36 TCAGTGGCAACGTCCTCGCTC 0.458000 24 78 0 0 1 0 0 STAT5B 6777 broad.mit.edu 37 17 40376881 40376881 + Silent SNP C C T TCGA-QK-AA3K-01A-11D-A391-08 TCGA-QK-AA3K-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b794eb4b-1c54-4989-88ed-28df2bd05b16 756ee1e0-9adb-4510-9f4d-e4de76961875 g.chr17:40376881C>T ENST00000293328.3 - 4 459 c.291G>A c.(289-291)acG>acA p.T97T NM_012448.3 NP_036580.2 P51692 STA5B_HUMAN signal transducer and activator of transcription 5B 97 2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process cytosol|nucleoplasm calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.135) Dasatinib(DB01254) AGCGGTCATACGTGTTCTGAA 0.542000 5 49 0 0 1 0 0 CIDEC 63924 broad.mit.edu 37 3 9911929 9911929 + Silent SNP T T C TCGA-QK-AA3K-01A-11D-A391-08 TCGA-QK-AA3K-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b794eb4b-1c54-4989-88ed-28df2bd05b16 756ee1e0-9adb-4510-9f4d-e4de76961875 g.chr3:9911929T>C ENST00000336832.2 - 4 424 c.285A>G c.(283-285)gaA>gaG p.E95E CIDEC_ENST00000423850.1_Silent_p.E21E|CIDEC_ENST00000455015.1_Silent_p.E21E|CIDEC_ENST00000443115.1_Intron|CIDEC_ENST00000383817.1_Intron|CIDEC_ENST00000430427.1_Silent_p.E105E NM_001199552.1|NM_001199623.1|NM_022094.3 NP_001186481.1|NP_001186552.1|NP_071377.2 Q96AQ7 CIDEC_HUMAN cell death-inducing DFFA-like effector c 95 CIDE-N. apoptosis|induction of apoptosis cytosol|focal adhesion|nucleus breast(2)|central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)|skin(1) 8 Medulloblastoma(99;0.227) GGAAGTACTCTTCTGTCTCTA 0.562000 5 58 0 0 1 0 0 ACO1 48 broad.mit.edu 37 9 32436283 32436283 + Missense_Mutation SNP G G A TCGA-QK-AA3K-01A-11D-A391-08 TCGA-QK-AA3K-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b794eb4b-1c54-4989-88ed-28df2bd05b16 756ee1e0-9adb-4510-9f4d-e4de76961875 g.chr9:32436283G>A ENST00000379923.1 + 19 2341 c.2135G>A c.(2134-2136)cGc>cAc p.R712H ACO1_ENST00000541043.1_Missense_Mutation_p.R613H|ACO1_ENST00000309951.5_Missense_Mutation_p.R712H NM_001278352.1 NP_001265281.1 P21399 ACOC_HUMAN aconitase 1, soluble 712 citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle cytosol|endoplasmic reticulum|Golgi apparatus 4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 30 LUSC - Lung squamous cell carcinoma(29;0.00813) GBM - Glioblastoma multiforme(74;3.94e-06) TATGGCTCCCGCCGAGGTAAT 0.478000 28 91 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9077090 9077090 + Silent SNP G G T TCGA-QK-AA3K-01A-11D-A391-08 TCGA-QK-AA3K-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b794eb4b-1c54-4989-88ed-28df2bd05b16 756ee1e0-9adb-4510-9f4d-e4de76961875 g.chr19:9077090G>T ENST00000397910.4 - 3 10559 c.10356C>A c.(10354-10356)atC>atA p.I3452I NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 3453 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CTGTGGAGGTGATGTATAATG 0.483000 11 42 0.000673444 0.000688409 1 1 0 CAPN9 10753 broad.mit.edu 37 1 230933952 230933952 + Missense_Mutation SNP C C G TCGA-QK-AA3K-01A-11D-A391-08 TCGA-QK-AA3K-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b794eb4b-1c54-4989-88ed-28df2bd05b16 756ee1e0-9adb-4510-9f4d-e4de76961875 g.chr1:230933952C>G ENST00000354537.1 + 18 2036 c.1954C>G c.(1954-1956)Ctc>Gtc p.L652V CAPN9_ENST00000271971.2_Missense_Mutation_p.L678V|CAPN9_ENST00000366666.2_Missense_Mutation_p.L615V|CAPN9_ENST00000480004.1_Intron NM_016452.1 NP_057536.1 O14815 CAN9_HUMAN calpain 9 678 Domain IV. digestion|proteolysis intracellular calcium ion binding|calcium-dependent cysteine-type endopeptidase activity autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 25 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.167) GTTCATTCATCTCAATATAAA 0.483000 OREG0014318 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 36 125 0 0 1 0 0 EXOC5 10640 broad.mit.edu 37 14 57689025 57689025 + Splice_Site SNP C C G TCGA-QK-AA3K-01A-11D-A391-08 TCGA-QK-AA3K-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b794eb4b-1c54-4989-88ed-28df2bd05b16 756ee1e0-9adb-4510-9f4d-e4de76961875 g.chr14:57689025C>G ENST00000413566.2 - 13 1765 c.e13+1 EXOC5_ENST00000340918.7_Splice_Site NM_006544.3 NP_006535.1 O00471 EXOC5_HUMAN exocyst complex component 5 exocytosis|post-Golgi vesicle-mediated transport|protein transport|vesicle docking cytoplasm breast(3)|endometrium(1)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 22 AATATACTTACCAGCAAGTCC 0.323000 12 31 0 0 1 0 0 BMS1P20 96610 broad.mit.edu 37 22 22663086 22663086 + RNA SNP T T G rs1054157 by1000genomes TCGA-QK-AA3K-01A-11D-A391-08 TCGA-QK-AA3K-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b794eb4b-1c54-4989-88ed-28df2bd05b16 756ee1e0-9adb-4510-9f4d-e4de76961875 g.chr22:22663086T>G ENST00000426066.1 + 0 525 NR_027293.1 AGCTGCCACATAAGTTGTCCT 0.299000 7 15 0 0 1 0 0 POM121L9P 29774 broad.mit.edu 37 22 24659675 24659675 + RNA SNP G G A TCGA-QK-AA3K-01A-11D-A391-08 TCGA-QK-AA3K-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b794eb4b-1c54-4989-88ed-28df2bd05b16 756ee1e0-9adb-4510-9f4d-e4de76961875 g.chr22:24659675G>A ENST00000414583.2 + 0 3200 NR_003714.1 ATGCCTCGGCGCTCGATCTCC 0.622000 5 39 0 0 1 0 0 NXF1 10482 broad.mit.edu 37 11 62564003 62564003 + Silent SNP C C A TCGA-QK-AA3K-01A-11D-A391-08 TCGA-QK-AA3K-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b794eb4b-1c54-4989-88ed-28df2bd05b16 756ee1e0-9adb-4510-9f4d-e4de76961875 g.chr11:62564003C>A ENST00000532297.1 - 15 1844 c.1215G>T c.(1213-1215)ggG>ggT p.G405G NXF1_ENST00000531709.2_3'UTR|NXF1_ENST00000294172.2_Silent_p.G405G Q9UBU9 NXF1_HUMAN nuclear RNA export factor 1 405 NTF2. gene expression|interspecies interaction between organisms cytosol|nuclear speck nucleotide binding|protein binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 CATCCAGGAGCCCTTGTCGGT 0.507000 17 87 7.07596e-05 7.56963e-05 1 1 0 SUV420H1 51111 broad.mit.edu 37 11 67939092 67939092 + Silent SNP T T A TCGA-QK-AA3K-01A-11D-A391-08 TCGA-QK-AA3K-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b794eb4b-1c54-4989-88ed-28df2bd05b16 756ee1e0-9adb-4510-9f4d-e4de76961875 g.chr11:67939092T>A ENST00000304363.4 - 7 1091 c.738A>T c.(736-738)ggA>ggT p.G246G SUV420H1_ENST00000405515.1_Silent_p.G246G|SUV420H1_ENST00000402789.1_Silent_p.G246G|SUV420H1_ENST00000402185.2_Silent_p.G223G|SUV420H1_ENST00000401547.2_Silent_p.G246G NM_017635.3 NP_060105.3 Q4FZB7 SV421_HUMAN suppressor of variegation 4-20 homolog 1 (Drosophila) 246 SET. regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 46 AGTCGTTTTCTCCATGTCTAA 0.403000 22 52 0 0 1 0 0 PEAK1 79834 broad.mit.edu 37 15 77473569 77473569 + Missense_Mutation SNP C C T TCGA-QK-AA3K-01A-11D-A391-08 TCGA-QK-AA3K-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b794eb4b-1c54-4989-88ed-28df2bd05b16 756ee1e0-9adb-4510-9f4d-e4de76961875 g.chr15:77473569C>T ENST00000560626.2 - 4 1175 c.700G>A c.(700-702)Gag>Aag p.E234K PEAK1_ENST00000312493.4_Missense_Mutation_p.E234K|PEAK1_ENST00000558305.1_Missense_Mutation_p.E234K Q9H792 PEAK1_HUMAN pseudopodium-enriched atypical kinase 1 234 cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading actin cytoskeleton|cytoplasm|focal adhesion ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding TCACTCTCCTCGCCACTGGAA 0.488000 18 98 0 0 1 0 0 ZBTB48 3104 broad.mit.edu 37 1 6648389 6648389 + Missense_Mutation SNP G G A TCGA-QK-AA3K-01A-11D-A391-08 TCGA-QK-AA3K-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b794eb4b-1c54-4989-88ed-28df2bd05b16 756ee1e0-9adb-4510-9f4d-e4de76961875 g.chr1:6648389G>A ENST00000377674.4 + 9 1726 c.1568G>A c.(1567-1569)tGc>tAc p.C523Y NM_001278647.1|NM_001278648.1|NM_005341.2 NP_001265576.1|NP_001265577.1|NP_005332.1 P10074 ZBT48_HUMAN zinc finger and BTB domain containing 48 523 cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|urinary_tract(1) 11 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156) Colorectal(212;1.35e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00109)|STAD - Stomach adenocarcinoma(132;0.017)|READ - Rectum adenocarcinoma(331;0.0642) CCCTTCAGTTGCGAGTTCTGT 0.647000 14 45 0 0 1 0 0 NDUFS2 4720 broad.mit.edu 37 1 161172205 161172205 + Silent SNP C C T TCGA-QK-AA3K-01A-11D-A391-08 TCGA-QK-AA3K-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b794eb4b-1c54-4989-88ed-28df2bd05b16 756ee1e0-9adb-4510-9f4d-e4de76961875 g.chr1:161172205C>T ENST00000392179.4 + 1 269 c.30C>T c.(28-30)ttC>ttT p.F10F NDUFS2_ENST00000367993.3_Silent_p.F10F|NDUFS2_ENST00000476409.2_5'UTR NM_001166159.1 NP_001159631.1 O75306 NDUS2_HUMAN NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase) 10 mitochondrial electron transport, NADH to ubiquinone|response to oxidative stress|transport mitochondrial respiratory chain complex I 4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity|protein binding|quinone binding breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1) 18 all_cancers(52;1.16e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00376) NADH(DB00157) TGTGCGGCTTCCGGGGCGTCG 0.657000 4 5 0 0 1 0 0 GPR161 23432 broad.mit.edu 37 1 168054849 168054849 + Missense_Mutation SNP C C T TCGA-QK-AA3K-01A-11D-A391-08 TCGA-QK-AA3K-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b794eb4b-1c54-4989-88ed-28df2bd05b16 756ee1e0-9adb-4510-9f4d-e4de76961875 g.chr1:168054849C>T ENST00000367838.1 - 8 1823 c.1510G>A c.(1510-1512)Ggc>Agc p.G504S GPR161_ENST00000271357.5_Missense_Mutation_p.G504S|GPR161_ENST00000546300.1_Missense_Mutation_p.G390S|GPR161_ENST00000367836.1_Missense_Mutation_p.G372S|GPR161_ENST00000537209.1_Missense_Mutation_p.G524S|GPR161_ENST00000539777.1_Missense_Mutation_p.G426S|GPR161_ENST00000367835.1_Missense_Mutation_p.G504S|GPR161_ENST00000361697.2_Missense_Mutation_p.G504S NM_001267611.1|NM_153832.2 NP_001254540.1|NP_722561.1 Q8N6U8 GP161_HUMAN G protein-coupled receptor 161 504 multicellular organismal development integral to membrane|plasma membrane G-protein coupled receptor activity breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1) 26 all_hematologic(923;0.215) GTTCTGCTGCCTCGGCGGCCC 0.607000 4 150 0 0 1 0 0 MARCH1 55016 broad.mit.edu 37 4 164466832 164466832 + Missense_Mutation SNP C C T TCGA-QK-AA3K-01A-11D-A391-08 TCGA-QK-AA3K-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b794eb4b-1c54-4989-88ed-28df2bd05b16 756ee1e0-9adb-4510-9f4d-e4de76961875 g.chr4:164466832C>T ENST00000503008.1 - 7 1463 c.487G>A c.(487-489)Gta>Ata p.V163I MARCH1_ENST00000514618.1_Missense_Mutation_p.V419I|MARCH1_ENST00000339875.5_Missense_Mutation_p.V146I|MARCH1_ENST00000274056.7_Missense_Mutation_p.V163I NM_001166373.1 NP_001159845.1 Q8TCQ1 MARH1_HUMAN membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase 163 antigen processing and presentation of peptide antigen via MHC class II|immune response cytoplasmic vesicle membrane|early endosome membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane MHC protein binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 36 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) ATCGCGATTACGTGGAATGTG 0.428000 10 103 0 0 1 0 0 BMP2K 55589 broad.mit.edu 37 4 79792085 79792085 + Missense_Mutation SNP G G C rs71828885 TCGA-QK-AA3K-01A-11D-A391-08 TCGA-QK-AA3K-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b794eb4b-1c54-4989-88ed-28df2bd05b16 756ee1e0-9adb-4510-9f4d-e4de76961875 g.chr4:79792085G>C ENST00000335016.5 + 11 1546 c.1380G>C c.(1378-1380)caG>caC p.Q460H BMP2K_ENST00000502871.1_Missense_Mutation_p.Q460H NM_198892.1 NP_942595.1 Q9NSY1 BMP2K_HUMAN BMP2 inducible kinase 460 Gln/His-rich. nucleus ATP binding|protein serine/threonine kinase activity p.Q460H(3) NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1) 13 ATCCTCACcagcagcagcagc 0.577000 4 34 0 0 1 0 0 ZNF365 22891 broad.mit.edu 37 10 64136451 64136451 + Nonsense_Mutation SNP C C T TCGA-QK-AA3K-01A-11D-A391-08 TCGA-QK-AA3K-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b794eb4b-1c54-4989-88ed-28df2bd05b16 756ee1e0-9adb-4510-9f4d-e4de76961875 g.chr10:64136451C>T ENST00000395254.3 + 2 779 c.499C>T c.(499-501)Cga>Tga p.R167* ZNF365_ENST00000466727.1_Intron|ZNF365_ENST00000395255.3_Nonsense_Mutation_p.R167*|ZNF365_ENST00000410046.3_Nonsense_Mutation_p.R167* NM_014951.2 NP_055766.2 Q70YC4 TALAN_HUMAN zinc finger protein 365 0 breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 Prostate(12;0.0297)|all_hematologic(501;0.228) AAAATTCAATCGAATGGTTGA 0.512000 20 62 0 0 1 0 0 ZNF507 22847 broad.mit.edu 37 19 32873418 32873418 + Silent SNP G G A TCGA-QK-AA3K-01A-11D-A391-08 TCGA-QK-AA3K-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b794eb4b-1c54-4989-88ed-28df2bd05b16 756ee1e0-9adb-4510-9f4d-e4de76961875 g.chr19:32873418G>A ENST00000311921.3 + 5 2598 c.2406G>A c.(2404-2406)aaG>aaA p.K802K ZNF507_ENST00000544431.1_Silent_p.K806K|ZNF507_ENST00000355898.5_Silent_p.K802K NM_001136156.1|NM_014910.4 NP_001129628.1|NP_055725.2 Q8TCN5 ZN507_HUMAN zinc finger protein 507 802 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 31 Esophageal squamous(110;0.162) CTTCTTTGAAGTCTCATATGT 0.433000 35 160 0 0 1 0 0 ZNF2 7549 broad.mit.edu 37 2 95846874 95846874 + Missense_Mutation SNP G G T TCGA-QK-AA3K-01A-11D-A391-08 TCGA-QK-AA3K-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b794eb4b-1c54-4989-88ed-28df2bd05b16 756ee1e0-9adb-4510-9f4d-e4de76961875 g.chr2:95846874G>T ENST00000398107.2 + 4 697 c.175G>T c.(175-177)Gat>Tat p.D59Y ZNF2_ENST00000340539.5_Missense_Mutation_p.D101Y|ZNF2_ENST00000425369.1_Missense_Mutation_p.D21Y|ZNF2_ENST00000453539.2_Missense_Mutation_p.D114Y|ZNF2_ENST00000295210.6_Missense_Mutation_p.D63Y NM_001017396.1 NP_001017396.1 Q9BSG1 ZNF2_HUMAN zinc finger protein 2 101 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1) 12 Ovarian(717;0.00768) READ - Rectum adenocarcinoma(193;0.0222) TGAGATTCACGATGCTTCAGA 0.418000 18 73 1.67942e-08 1.83936e-08 1 1 0 SORT1 6272 broad.mit.edu 37 1 109884667 109884667 + Missense_Mutation SNP G G T TCGA-QK-AA3K-01A-11D-A391-08 TCGA-QK-AA3K-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b794eb4b-1c54-4989-88ed-28df2bd05b16 756ee1e0-9adb-4510-9f4d-e4de76961875 g.chr1:109884667G>T ENST00000256637.6 - 9 1135 c.1077C>A c.(1075-1077)gaC>gaA p.D359E SORT1_ENST00000538502.1_Missense_Mutation_p.D222E NM_002959.5 NP_002950.3 Q99523 SORT_HUMAN sortilin 1 359 endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|Golgi to endosome transport|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|Golgi cisterna membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1) 26 all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244) Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184) TGAATACCATGTCATCATTTG 0.448000 24 96 6.32553e-13 7.0397e-13 1 1 0 FLG 2312 broad.mit.edu 37 1 152284021 152284021 + Nonsense_Mutation SNP G G T TCGA-QK-AA3K-01A-11D-A391-08 TCGA-QK-AA3K-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b794eb4b-1c54-4989-88ed-28df2bd05b16 756ee1e0-9adb-4510-9f4d-e4de76961875 g.chr1:152284021G>T ENST00000368799.1 - 3 3376 c.3341C>A c.(3340-3342)tCa>tAa p.S1114* FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 1114 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GAAAGACCCTGAACGTCCAGA 0.587000 Ichthyosis 7 427 0.000274275 0.000282462 1 1 0 GPR25 2848 broad.mit.edu 37 1 200843200 200843200 + Silent SNP C C T TCGA-QK-AA3K-01A-11D-A391-08 TCGA-QK-AA3K-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b794eb4b-1c54-4989-88ed-28df2bd05b16 756ee1e0-9adb-4510-9f4d-e4de76961875 g.chr1:200843200C>T ENST00000304244.2 + 1 1118 c.1035C>T c.(1033-1035)tcC>tcT p.S345S NM_005298.2 NP_005289.2 O00155 GPR25_HUMAN G protein-coupled receptor 25 345 integral to plasma membrane large_intestine(1)|lung(2)|ovary(1)|skin(1) 5 ACGACAGTTCCGTGTTCCGTT 0.736000 3 9 0 0 1 0 0 PPL 5493 broad.mit.edu 37 16 4944525 4944525 + Missense_Mutation SNP G G A TCGA-QK-AA3K-01A-11D-A391-08 TCGA-QK-AA3K-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b794eb4b-1c54-4989-88ed-28df2bd05b16 756ee1e0-9adb-4510-9f4d-e4de76961875 g.chr16:4944525G>A ENST00000345988.2 - 12 1426 c.1337C>T c.(1336-1338)cCg>cTg p.P446L PPL_ENST00000590782.2_Missense_Mutation_p.P444L NM_002705.4 NP_002696.3 O60437 PEPL_HUMAN periplakin 446 keratinization cytoskeleton|desmosome|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2) 62 ACACACGGCCGGAGCAATCAG 0.632000 4 74 0 0 1 0 0 BBOX1 8424 broad.mit.edu 37 11 27077014 27077014 + Missense_Mutation SNP G G T TCGA-QK-AA3K-01A-11D-A391-08 TCGA-QK-AA3K-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b794eb4b-1c54-4989-88ed-28df2bd05b16 756ee1e0-9adb-4510-9f4d-e4de76961875 g.chr11:27077014G>T ENST00000263182.3 + 3 405 c.37G>T c.(37-39)Ggg>Tgg p.G13W BBOX1_ENST00000527505.1_3'UTR|BBOX1_ENST00000528583.1_Missense_Mutation_p.G13W|BBOX1_ENST00000525090.1_Missense_Mutation_p.G13W|RP11-1L12.3_ENST00000526061.1_RNA|BBOX1_ENST00000529202.1_Missense_Mutation_p.G13W NM_003986.2 NP_003977.1 O75936 BODG_HUMAN butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1 13 carnitine biosynthetic process actin cytoskeleton|cytosol|intracellular membrane-bounded organelle gamma-butyrobetaine dioxygenase activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding breast(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 23 Succinic acid(DB00139)|Vitamin C(DB00126) AGCACTTGACGGGGCTCATTT 0.478000 6 49 0.00116845 0.00118563 1 1 0 UGT2B11 10720 broad.mit.edu 37 4 70078323 70078323 + Missense_Mutation SNP A A G rs143777219 by1000genomes TCGA-QK-AA3K-01A-11D-A391-08 TCGA-QK-AA3K-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b794eb4b-1c54-4989-88ed-28df2bd05b16 756ee1e0-9adb-4510-9f4d-e4de76961875 g.chr4:70078323A>G ENST00000446444.1 - 2 846 c.838T>C c.(838-840)Ttc>Ctc p.F280L 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 280 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 TTGCAGTGGAATCCTCCAACA 0.378000 5 164 0 0 1 0 0 LMLN 89782 broad.mit.edu 37 3 197751536 197751536 + Missense_Mutation SNP T T A TCGA-QK-AA3K-01A-11D-A391-08 TCGA-QK-AA3K-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b794eb4b-1c54-4989-88ed-28df2bd05b16 756ee1e0-9adb-4510-9f4d-e4de76961875 g.chr3:197751536T>A ENST00000330198.4 + 14 1555 c.1533T>A c.(1531-1533)ttT>ttA p.F511L LMLN_ENST00000420910.2_Missense_Mutation_p.F548L|LMLN_ENST00000482695.1_Missense_Mutation_p.F496L|LMLN_ENST00000332636.5_Missense_Mutation_p.F459L NM_033029.3 NP_149018.2 Q96KR4 LMLN_HUMAN leishmanolysin-like (metallopeptidase M8 family) 511 cell adhesion|cell division|mitosis|proteolysis cytoplasm|membrane metalloendopeptidase activity|zinc ion binding endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976) Lung NSC(153;0.132) Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07) GBM - Glioblastoma multiforme(93;0.111) CAGAAATTTTTAAGAACTATG 0.363000 16 92 0 0 1 0 0 RYR3 6263 broad.mit.edu 37 15 34105144 34105144 + Missense_Mutation SNP G G T TCGA-QK-AA3K-01A-11D-A391-08 TCGA-QK-AA3K-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b794eb4b-1c54-4989-88ed-28df2bd05b16 756ee1e0-9adb-4510-9f4d-e4de76961875 g.chr15:34105144G>T ENST00000389232.4 + 73 10408 c.10338G>T c.(10336-10338)aaG>aaT p.K3446N RYR3_ENST00000415757.3_Missense_Mutation_p.K3441N NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 3446 cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) ATCCGGAAAAGACAGTGGAGC 0.483000 11 50 1.58986e-06 1.71407e-06 1 1 0 UBE2M 9040 broad.mit.edu 37 19 59068489 59068489 + Missense_Mutation SNP T T C TCGA-QK-AA3K-01A-11D-A391-08 TCGA-QK-AA3K-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b794eb4b-1c54-4989-88ed-28df2bd05b16 756ee1e0-9adb-4510-9f4d-e4de76961875 g.chr19:59068489T>C ENST00000253023.3 - 2 723 c.145A>G c.(145-147)Atc>Gtc p.I49V NM_003969.3 NP_003960.1 P61081 UBC12_HUMAN ubiquitin-conjugating enzyme E2M 49 Interaction with UBA3. protein neddylation ATP binding|NEDD8 ligase activity|protein binding|ribosomal S6-glutamic acid ligase activity|ubiquitin-protein ligase activity large_intestine(1)|lung(2)|ovary(1)|pancreas(1) 5 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179) GAGAAGCTGATATCACACGTC 0.532000 43 119 0 0 1 0 0 SLFN11 91607 broad.mit.edu 37 17 33690462 33690462 + Missense_Mutation SNP T T A TCGA-QK-AA3K-01A-11D-A391-08 TCGA-QK-AA3K-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b794eb4b-1c54-4989-88ed-28df2bd05b16 756ee1e0-9adb-4510-9f4d-e4de76961875 g.chr17:33690462T>A ENST00000394566.1 - 4 637 c.365A>T c.(364-366)aAg>aTg p.K122M SLFN11_ENST00000308377.4_Missense_Mutation_p.K122M NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1 NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1 Q7Z7L1 SLN11_HUMAN schlafen family member 11 122 nucleus ATP binding autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2) 50 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) AAGGCGGGGCTTGACAGAGCG 0.468000 8 64 0 0 1 0 0 HERC2P2 400322 broad.mit.edu 37 15 23299984 23299984 + RNA SNP G G A rs429570 TCGA-QK-AA3K-01A-11D-A391-08 TCGA-QK-AA3K-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b794eb4b-1c54-4989-88ed-28df2bd05b16 756ee1e0-9adb-4510-9f4d-e4de76961875 g.chr15:23299984G>A ENST00000560464.1 - 0 4303 TTCCTTCTGGGAAATCCCATC 0.582000 3 36 0 0 1 0 0 RAB3GAP2 25782 broad.mit.edu 37 1 220364615 220364615 + Missense_Mutation SNP C C T TCGA-QK-AA3K-01A-11D-A391-08 TCGA-QK-AA3K-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b794eb4b-1c54-4989-88ed-28df2bd05b16 756ee1e0-9adb-4510-9f4d-e4de76961875 g.chr1:220364615C>T ENST00000358951.2 - 14 1398 c.1282G>A c.(1282-1284)Gca>Aca p.A428T NM_012414.3 NP_036546.2 Q9H2M9 RBGPR_HUMAN RAB3 GTPase activating protein subunit 2 (non-catalytic) 428 intracellular protein transport cytoplasm|soluble fraction GTPase activator activity|protein heterodimerization activity p.A428T(2) breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1) 39 GBM - Glioblastoma multiforme(131;0.0443) CCAATTTGTGCGTCGCGGTAC 0.468000 6 21 0 0 1 0 0 FLCN 201163 broad.mit.edu 37 17 17127338 17127338 + Silent SNP G G A TCGA-QK-AA3K-01A-11D-A391-08 TCGA-QK-AA3K-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b794eb4b-1c54-4989-88ed-28df2bd05b16 756ee1e0-9adb-4510-9f4d-e4de76961875 g.chr17:17127338G>A ENST00000285071.4 - 6 970 c.516C>T c.(514-516)atC>atT p.I172I RP11-45M22.4_ENST00000427497.3_Intron|FLCN_ENST00000389169.5_Silent_p.I172I NM_144997.5 NP_659434.2 Q8NFG4 FLCN_HUMAN folliculin 172 regulation of protein phosphorylation cytoplasm|nucleus|plasma membrane protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 TGATGGTGATGATGCTGTACC 0.582000 Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome 26 28 0 0 1 0 0 PRSS3P2 154754 broad.mit.edu 37 7 142478865 142478865 + RNA SNP T T C rs139176741 by1000genomes TCGA-QK-AA3K-01A-11D-A391-08 TCGA-QK-AA3K-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b794eb4b-1c54-4989-88ed-28df2bd05b16 756ee1e0-9adb-4510-9f4d-e4de76961875 g.chr7:142478865T>C ENST00000603901.1 + 0 26 NR_001296.3 ATCCTTGCCTTTGTGGGAGCT 0.567000 3 47 0 0 1 0 0 MYH1 4619 broad.mit.edu 37 17 10404628 10404628 + Silent SNP G G A TCGA-QK-AA3K-01A-11D-A391-08 TCGA-QK-AA3K-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b794eb4b-1c54-4989-88ed-28df2bd05b16 756ee1e0-9adb-4510-9f4d-e4de76961875 g.chr17:10404628G>A ENST00000226207.5 - 27 3631 c.3537C>T c.(3535-3537)cgC>cgT p.R1179R CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 1179 muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 CCAGGTCCCTGCGCATTTTCT 0.597000 18 127 0 0 1 0 0 ZNF518A 9849 broad.mit.edu 37 10 97916721 97916721 + RNA SNP C C T TCGA-QK-AA3K-01A-11D-A391-08 TCGA-QK-AA3K-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b794eb4b-1c54-4989-88ed-28df2bd05b16 756ee1e0-9adb-4510-9f4d-e4de76961875 g.chr10:97916721C>T ENST00000534948.1 + 0 1499 Q6AHZ1 Z518A_HUMAN zinc finger protein 518A regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2) 24 Colorectal(252;0.0815) Epithelial(162;4.23e-08)|all cancers(201;1.85e-06) AGTGTAAGTTCTCCACCCAGG 0.333000 20 128 0 0 1 0 0 SLC22A6 9356 broad.mit.edu 37 11 62747261 62747261 + Missense_Mutation SNP C C T TCGA-QK-AA3K-01A-11D-A391-08 TCGA-QK-AA3K-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b794eb4b-1c54-4989-88ed-28df2bd05b16 756ee1e0-9adb-4510-9f4d-e4de76961875 g.chr11:62747261C>T ENST00000377871.3 - 7 1463 c.1197G>A c.(1195-1197)atG>atA p.M399I SLC22A6_ENST00000421062.2_Missense_Mutation_p.M399I|SLC22A6_ENST00000360421.4_Missense_Mutation_p.M399I|SLC22A6_ENST00000458333.2_Missense_Mutation_p.M399I NM_004790.4|NM_153278.2 NP_004781.2|NP_695010.1 Q4U2R8 S22A6_HUMAN solute carrier family 22 (organic anion transporter), member 6 399 alpha-ketoglutarate transport basolateral plasma membrane|integral to plasma membrane|membrane fraction inorganic anion exchanger activity|protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 GCAGTGCAGCCATCTGGGCAG 0.612000 5 67 0 0 1 0 0 MT-CO1 4512 broad.mit.edu 37 MT 6559 6559 + Missense_Mutation SNP T T C TCGA-QK-AA3K-01A-11D-A391-08 TCGA-QK-AA3K-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b794eb4b-1c54-4989-88ed-28df2bd05b16 756ee1e0-9adb-4510-9f4d-e4de76961875 g.chrM:6559T>C ENST00000361624.2 + 1 656 c.656T>C c.(655-657)tTc>tCc p.219_219insS mitochondrially encoded cytochrome c oxidase I breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3) 54 CAACACCACCTTCTTCGACCC 0.498000 11 1 0 0 1 0 0 METTL5 29081 broad.mit.edu 37 2 170672002 170672002 + Missense_Mutation SNP T T C TCGA-QK-AA3K-01A-11D-A391-08 TCGA-QK-AA3K-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b794eb4b-1c54-4989-88ed-28df2bd05b16 756ee1e0-9adb-4510-9f4d-e4de76961875 g.chr2:170672002T>C ENST00000410097.1 - 6 661 c.526A>G c.(526-528)Ata>Gta p.I176V METTL5_ENST00000409340.1_Missense_Mutation_p.I77V|METTL5_ENST00000308099.3_Intron|METTL5_ENST00000260953.5_Missense_Mutation_p.I176V|METTL5_ENST00000392640.2_Missense_Mutation_p.I176V|METTL5_ENST00000409965.1_Missense_Mutation_p.I176V|METTL5_ENST00000409837.1_Missense_Mutation_p.I176V Q9NRN9 METL5_HUMAN methyltransferase like 5 176 methyltransferase activity|nucleic acid binding breast(2)|central_nervous_system(1)|large_intestine(5)|lung(1)|prostate(1) 10 ATAATATCTATCTTGATTTTC 0.308000 6 31 0 0 1 0 0 MTMR10 54893 broad.mit.edu 37 15 31233736 31233736 + Missense_Mutation SNP T T A TCGA-QK-AA3K-01A-11D-A391-08 TCGA-QK-AA3K-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b794eb4b-1c54-4989-88ed-28df2bd05b16 756ee1e0-9adb-4510-9f4d-e4de76961875 g.chr15:31233736T>A ENST00000435680.1 - 16 2368 c.2271A>T c.(2269-2271)ttA>ttT p.L757F FAN1_ENST00000362065.4_Intron|MTMR10_ENST00000425768.1_3'UTR|MTMR10_ENST00000314404.8_Intron NM_017762.2 NP_060232.2 Q9NXD2 MTMRA_HUMAN myotubularin related protein 10 757 phosphatase activity autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1) 9 all_lung(180;2.81e-11) all cancers(64;7.26e-15)|Epithelial(43;7.2e-11)|GBM - Glioblastoma multiforme(186;0.000158)|BRCA - Breast invasive adenocarcinoma(123;0.00426)|Lung(196;0.174) AAAATTTGCTTAATGGTGTTC 0.433000 6 10 0 0 1 0 0 DVL1 1855 broad.mit.edu 37 1 1275150 1275150 + Missense_Mutation SNP C C T TCGA-QK-AA3K-01A-11D-A391-08 TCGA-QK-AA3K-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b794eb4b-1c54-4989-88ed-28df2bd05b16 756ee1e0-9adb-4510-9f4d-e4de76961875 g.chr1:1275150C>T ENST00000378888.5 - 9 1236 c.952G>A c.(952-954)Gtg>Atg p.V318M DVL1_ENST00000378891.5_Missense_Mutation_p.V318M O14640 DVL1_HUMAN dishevelled segment polarity protein 1 318 PDZ. canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, planar cell polarity pathway cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome frizzled binding|identical protein binding|protein kinase binding|signal transducer activity endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 13 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) AGCACCCGCACGGCATCGTCA 0.657000 11 42 0 0 1 0 0 OR1J1 347168 broad.mit.edu 37 9 125239841 125239841 + Missense_Mutation SNP C C T TCGA-QK-AA3K-01A-11D-A391-08 TCGA-QK-AA3K-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b794eb4b-1c54-4989-88ed-28df2bd05b16 756ee1e0-9adb-4510-9f4d-e4de76961875 g.chr9:125239841C>T ENST00000259357.2 - 1 394 c.365G>A c.(364-366)aGg>aAg p.R122K NM_001004451.1 NP_001004451.1 Q8NGS3 OR1J1_HUMAN olfactory receptor, family 1, subfamily J, member 1 122 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 16 GGCCACATACCTGTCATATGC 0.453000 4 69 0 0 1 0 0 IGF2R 3482 broad.mit.edu 37 6 160481709 160481709 + Silent SNP G G T TCGA-QK-AA3K-01A-11D-A391-08 TCGA-QK-AA3K-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b794eb4b-1c54-4989-88ed-28df2bd05b16 756ee1e0-9adb-4510-9f4d-e4de76961875 g.chr6:160481709G>T ENST00000356956.1 + 23 3370 c.3222G>T c.(3220-3222)gcG>gcT p.A1074A NM_000876.2 NP_000867.2 P11717 MPRI_HUMAN insulin-like growth factor 2 receptor 1074 receptor-mediated endocytosis cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 Breast(66;0.000777)|Ovarian(120;0.0305) OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05) TTGAAACCGCGTTGGCCTGTG 0.517000 28 73 1.88708e-17 2.24498e-17 1 1 0 DOCK1 1793 broad.mit.edu 37 10 128822972 128822972 + Silent SNP T T C TCGA-QK-AA3K-01A-11D-A391-08 TCGA-QK-AA3K-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b794eb4b-1c54-4989-88ed-28df2bd05b16 756ee1e0-9adb-4510-9f4d-e4de76961875 g.chr10:128822972T>C ENST00000280333.6 + 15 1522 c.1413T>C c.(1411-1413)ggT>ggC p.G471G RP11-223P11.2_ENST00000420941.2_RNA|RP11-223P11.3_ENST00000595456.1_RNA|RP11-223P11.3_ENST00000599979.1_RNA|RP11-223P11.3_ENST00000594614.1_RNA|RP11-223P11.3_ENST00000594559.1_RNA|RP11-223P11.3_ENST00000601826.1_RNA|RP11-223P11.3_ENST00000601242.1_RNA NM_001380.3 NP_001371.1 Q14185 DOCK1_HUMAN dedicator of cytokinesis 1 471 DHR-1. apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction cytosol|membrane GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 72 all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14) BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115) CGGGTGCTGGTGATGAAGCGA 0.393000 4 14 0 0 1 0 0 PCSK9 255738 broad.mit.edu 37 1 55505553 55505555 + In_Frame_Del DEL CTG CTG - rs67610340 TCGA-QK-AA3K-01A-11D-A391-08 TCGA-QK-AA3K-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b794eb4b-1c54-4989-88ed-28df2bd05b16 756ee1e0-9adb-4510-9f4d-e4de76961875 g.chr1:55505553_55505555delCTG ENST00000302118.5 + 1 333_335 c.43_45delCTG c.(43-45)del p.L23del PCSK9_ENST00000452118.2_In_Frame_Del_p.L23del NM_174936.3 NP_777596.2 Q8NBP7 PCSK9_HUMAN proprotein convertase subtilisin/kexin type 9 23 L -> LL (this polymoprhism seems to have a modifier effect on LDLR mutation and familial hypercholesterolemia). cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity extracellular space|late endosome|lysosome|perinuclear region of cytoplasm apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding p.P14_L15insL(2) NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1) 32 gccgctgccactgctgctgctgc 0.709 3 6 --- --- --- --- PDZD2 23037 broad.mit.edu 37 5 31983584 31983585 + Frame_Shift_Del DEL AA AA - TCGA-QK-AA3K-01A-11D-A391-08 TCGA-QK-AA3K-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b794eb4b-1c54-4989-88ed-28df2bd05b16 756ee1e0-9adb-4510-9f4d-e4de76961875 g.chr5:31983584_31983585delAA ENST00000438447.1 + 3 1188_1189 c.800_801delAA c.(799-801)gfs p.E267fs PDZD2_ENST00000282493.3_Frame_Shift_Del_p.E267fs O15018 PDZD2_HUMAN PDZ domain containing 2 267 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 TTTCAGCTAGAAAATGGCCCAG 0.554 53 185 --- --- --- --- PTPRD 5789 broad.mit.edu 37 9 8499758 8499758 + Frame_Shift_Del DEL G G - TCGA-QK-AA3K-01A-11D-A391-08 TCGA-QK-AA3K-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b794eb4b-1c54-4989-88ed-28df2bd05b16 756ee1e0-9adb-4510-9f4d-e4de76961875 g.chr9:8499758delG ENST00000381196.4 - 22 2754 c.2211delC c.(2209-2211)ccfs p.P737fs PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000360074.4_Frame_Shift_Del_p.P724fs|PTPRD_ENST00000540109.1_Frame_Shift_Del_p.P737fs|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000358503.5_Frame_Shift_Del_p.P724fs|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000356435.5_Frame_Shift_Del_p.P737fs|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000397617.3_Intron NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 737 Fibronectin type-III 5. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) GCTGTTTATTGGGCACGGGTG 0.502 TSP Lung(15;0.13) 50 64 --- --- --- --- FKBP15 23307 broad.mit.edu 37 9 115932150 115932151 + In_Frame_Ins INS - - TTC rs113480096 by1000genomes TCGA-QK-AA3K-01A-11D-A391-08 TCGA-QK-AA3K-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b794eb4b-1c54-4989-88ed-28df2bd05b16 756ee1e0-9adb-4510-9f4d-e4de76961875 g.chr9:115932150_115932151insTTC ENST00000238256.3 - 26 2955_2956 c.2838_2839insGAA c.(2836-2841)gaaagc>gaGAAaagc p.946_947ES>EKS NM_015258.1 NP_056073.1 Q5T1M5 FKB15_HUMAN FK506 binding protein 15, 133kDa 946 endocytosis|protein folding axon|early endosome actin binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1) 26 tcttctgctttttcttcttctt 0.525 5 4 --- --- --- --- ACACB 32 broad.mit.edu 37 12 109604671 109604671 + Frame_Shift_Del DEL G G - TCGA-QK-AA3K-01A-11D-A391-08 TCGA-QK-AA3K-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b794eb4b-1c54-4989-88ed-28df2bd05b16 756ee1e0-9adb-4510-9f4d-e4de76961875 g.chr12:109604671delG ENST00000338432.7 + 3 778 c.659delG c.(658-660)acfs p.S220fs ACACB_ENST00000377854.5_Frame_Shift_Del_p.S220fs|ACACB_ENST00000377848.3_Frame_Shift_Del_p.S220fs O00763 ACACB_HUMAN acetyl-CoA carboxylase beta 220 acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation cytosol|endomembrane system|Golgi apparatus|membrane acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 Biotin(DB00121) TGCAGGCCGAGCATGTCGGGA 0.572 25 34 --- --- --- --- DYNLL1 8655 broad.mit.edu 37 12 120934360 120934361 + Frame_Shift_Ins INS - - G TCGA-QK-AA3K-01A-11D-A391-08 TCGA-QK-AA3K-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b794eb4b-1c54-4989-88ed-28df2bd05b16 756ee1e0-9adb-4510-9f4d-e4de76961875 g.chr12:120934360_120934361insG ENST00000550845.1 + 2 260_261 c.136_137insG c.(136-138)gatfs p.D46fs DYNLL1_ENST00000548214.1_Frame_Shift_Ins_p.D46fs|DYNLL1_ENST00000392508.2_Intron|DYNLL1_ENST00000242577.6_Intron|DYNLL1_ENST00000552870.1_Intron|DYNLL1_ENST00000550178.1_Frame_Shift_Ins_p.D46fs|DYNLL1_ENST00000549989.1_Intron|DYNLL1_ENST00000392509.2_Intron|DYNLL1_ENST00000548342.1_Intron P63167 DYL1_HUMAN dynein, light chain, LC8-type 1 0 actin cytoskeleton organization|activation of pro-apoptotic gene products|anatomical structure morphogenesis|female gamete generation|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|microtubule-based process|negative regulation of phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transport centrosome|cytoplasmic dynein complex|cytosol|microtubule|mitochondrion|nucleus|plasma membrane motor activity|protein binding all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CAAGAAGGTGAGGATGGGCGCG 0.599 58 83 --- --- --- --- SRP14 6727 broad.mit.edu 37 15 40328591 40328596 + In_Frame_Del DEL GGCAGG GGCAGG - TCGA-QK-AA3K-01A-11D-A391-08 TCGA-QK-AA3K-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b794eb4b-1c54-4989-88ed-28df2bd05b16 756ee1e0-9adb-4510-9f4d-e4de76961875 g.chr15:40328591_40328596delGGCAGG ENST00000267884.6 - 5 420_425 c.349_354delCCTGCC c.(349-354)del p.PA117del SRP14_ENST00000558720.1_In_Frame_Del_p.PA37del|SRP14_ENST00000560773.1_In_Frame_Del_p.PA37del|SRP14_ENST00000558527.1_5'UTR NM_003134.4 NP_003125.3 P37108 SRP14_HUMAN signal recognition particle 14kDa (homologous Alu RNA binding protein) 117 Ala/Thr-rich. negative regulation of translational elongation|response to drug|SRP-dependent cotranslational protein targeting to membrane cytosol|signal recognition particle, endoplasmic reticulum targeting 7S RNA binding|endoplasmic reticulum signal peptide binding|protein binding endometrium(1)|skin(1)|upper_aerodigestive_tract(1) 3 all_cancers(109;7.56e-18)|all_epithelial(112;4.02e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;1.84e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0505) ttgctgctgcggcaggtgctgctgct 0.481 7 80 --- --- --- --- GRAMD2 196996 broad.mit.edu 37 15 72461335 72461335 + Frame_Shift_Del DEL A A - TCGA-QK-AA3K-01A-11D-A391-08 TCGA-QK-AA3K-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b794eb4b-1c54-4989-88ed-28df2bd05b16 756ee1e0-9adb-4510-9f4d-e4de76961875 g.chr15:72461335delA ENST00000309731.7 - 3 150 c.137delT c.(136-138)cgfs p.L46fs NM_001012642.2 NP_001012660.1 Q8IUY3 GRAM2_HUMAN GRAM domain containing 2 46 integral to membrane cervix(2)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 13 TGGCCAGTGCAGACTGCAAAG 0.542 22 68 --- --- --- --- RAI1 10743 broad.mit.edu 37 17 17701398 17701398 + Frame_Shift_Del DEL C C - TCGA-QK-AA3K-01A-11D-A391-08 TCGA-QK-AA3K-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b794eb4b-1c54-4989-88ed-28df2bd05b16 756ee1e0-9adb-4510-9f4d-e4de76961875 g.chr17:17701398delC ENST00000353383.1 + 3 5605 c.5136delC c.(5134-5136)ctfs p.L1712fs RAI1_ENST00000261641.6_Intron NM_030665.3 NP_109590.3 Q7Z5J4 RAI1_HUMAN retinoic acid induced 1 1712 cytoplasm|nucleus zinc ion binding breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7) 48 READ - Rectum adenocarcinoma(1115;0.0276) AACACTGCCTCCCCAAAAAGA 0.577 23 95 --- --- --- --- ACACA 31 broad.mit.edu 37 17 35614739 35614739 + Frame_Shift_Del DEL T T - TCGA-QK-AA3K-01A-11D-A391-08 TCGA-QK-AA3K-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b794eb4b-1c54-4989-88ed-28df2bd05b16 756ee1e0-9adb-4510-9f4d-e4de76961875 g.chr17:35614739delT ENST00000353139.5 - 14 2193 c.1712delA c.(1711-1713)atfs p.N571fs ACACA_ENST00000360679.3_Frame_Shift_Del_p.N476fs|ACACA_ENST00000394406.2_Frame_Shift_Del_p.N534fs|ACACA_ENST00000335166.5_Frame_Shift_Del_p.N456fs NM_198834.1|NM_198839.1 NP_942131.1|NP_942136.1 Q13085 ACACA_HUMAN acetyl-CoA carboxylase alpha 534 Biotin carboxylation. acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process cytosol acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 83 Breast(25;0.00157)|Ovarian(249;0.15) Biotin(DB00121) AACATTCTTATTGCTGCGGAA 0.418 19 114 --- --- --- --- TSEN34 79042 broad.mit.edu 37 19 54696135 54696136 + Frame_Shift_Ins INS - - GCTA TCGA-QK-AA3K-01A-11D-A391-08 TCGA-QK-AA3K-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b794eb4b-1c54-4989-88ed-28df2bd05b16 756ee1e0-9adb-4510-9f4d-e4de76961875 g.chr19:54696135_54696136insGCTA ENST00000396383.1 + 4 967_968 c.656_657insGCTA c.(655-657)ccgfs p.P219fs TSEN34_ENST00000429671.2_Frame_Shift_Ins_p.P219fs|TSEN34_ENST00000302937.4_Frame_Shift_Ins_p.P219fs|TSEN34_ENST00000396388.2_Frame_Shift_Ins_p.P219fs Q9BSV6 SEN34_HUMAN TSEN34 tRNA splicing endonuclease subunit 219 mRNA processing|tRNA-type intron splice site recognition and cleavage nucleolus|tRNA-intron endonuclease complex nucleic acid binding|tRNA-intron endonuclease activity endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 10 all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GCCCACGAGCTGCGCTACAGTA 0.639 25 82 --- --- --- --- KDM5C 8242 broad.mit.edu 37 X 53227702 53227703 + Frame_Shift_Del DEL GC GC - TCGA-QK-AA3K-01A-11D-A391-08 TCGA-QK-AA3K-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx b794eb4b-1c54-4989-88ed-28df2bd05b16 756ee1e0-9adb-4510-9f4d-e4de76961875 g.chrX:53227702_53227703delGC ENST00000452825.3 - 15 2816_2817 c.2284_2285delGC c.(2284-2286)tfs p.A762fs KDM5C_ENST00000404049.3_Frame_Shift_Del_p.A828fs|KDM5C_ENST00000375383.3_Frame_Shift_Del_p.A788fs|KDM5C_ENST00000375401.3_Frame_Shift_Del_p.A829fs|KDM5C_ENST00000375379.3_Frame_Shift_Del_p.A829fs NM_001146702.1 NP_001140174.1 P41229 KDM5C_HUMAN lysine (K)-specific demethylase 5C 829 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2) 82 CAGTCCCAGAGCTCGGGACACG 0.569 """N, F, S""" clear cell renal carcinoma 4 6 --- --- --- ---