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 HMGB3 3149 broad.mit.edu 37 X 150156360 150156360 + Silent SNP G G A TCGA-CQ-7069-01A-11D-2394-08 TCGA-CQ-7069-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33d8d1bd-6131-4d2b-8b70-89be0ef1dee9 86ad483e-92e1-4e14-ada6-d41574713c7a g.chrX:150156360G>A ENST00000325307.7 + 5 672 c.576G>A c.(574-576)gaG>gaA p.E192E HMGB3_ENST00000448905.2_Silent_p.E192E NM_005342.2 NP_005333.2 O15347 HMGB3_HUMAN high mobility group box 3 192 Asp/Glu-rich (acidic). DNA recombination|multicellular organismal development chromosome|nucleus DNA bending activity|double-stranded DNA binding p.E192E(1) endometrium(3)|large_intestine(2)|lung(2)|skin(1) 8 Acute lymphoblastic leukemia(192;6.56e-05) aggaagaagaggaggaggagg 0.443000 4 62 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 215848631 215848631 + Missense_Mutation SNP C C T TCGA-CQ-7069-01A-11D-2394-08 TCGA-CQ-7069-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33d8d1bd-6131-4d2b-8b70-89be0ef1dee9 86ad483e-92e1-4e14-ada6-d41574713c7a g.chr1:215848631C>T ENST00000366943.2 - 63 13008 c.12622G>A c.(12622-12624)Gac>Aac p.D4208N USH2A_ENST00000307340.3_Missense_Mutation_p.D4208N O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 4208 Fibronectin type-III 27. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding p.D4208N(1) NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) ATTTTCTCGTCGGCCTGGATT 0.393000 HNSCC(13;0.011) 12 67 0 0 1 0 0 SRL 6345 broad.mit.edu 37 16 4242493 4242493 + Silent SNP G G A TCGA-CQ-7069-01A-11D-2394-08 TCGA-CQ-7069-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33d8d1bd-6131-4d2b-8b70-89be0ef1dee9 86ad483e-92e1-4e14-ada6-d41574713c7a g.chr16:4242493G>A ENST00000399609.3 - 6 1095 c.1083C>T c.(1081-1083)ttC>ttT p.F361F SRL_ENST00000537996.1_Silent_p.F319F NM_001098814.1 NP_001092284.1 Q86TD4 SRCA_HUMAN sarcalumenin 820 Acidic domain, probably binds calcium (By similarity). sarcoplasmic reticulum lumen GTP binding|GTPase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3) 21 CTCCATCACTGAAGAAGGTCA 0.493000 47 136 0 0 1 0 0 ABCA13 154664 broad.mit.edu 37 7 48428790 48428790 + Missense_Mutation SNP C C T TCGA-CQ-7069-01A-11D-2394-08 TCGA-CQ-7069-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33d8d1bd-6131-4d2b-8b70-89be0ef1dee9 86ad483e-92e1-4e14-ada6-d41574713c7a g.chr7:48428790C>T ENST00000435803.1 + 37 11651 c.11627C>T c.(11626-11628)aCa>aTa p.T3876I NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 3876 ABC transporter 1. transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 CTGCTGGGGACAAACGGTGCC 0.498000 20 55 0 0 1 0 0 OR1F2P 26184 broad.mit.edu 37 16 3265899 3265899 + RNA SNP C C T TCGA-CQ-7069-01A-11D-2394-08 TCGA-CQ-7069-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33d8d1bd-6131-4d2b-8b70-89be0ef1dee9 86ad483e-92e1-4e14-ada6-d41574713c7a g.chr16:3265899C>T ENST00000576468.1 + 0 418 CTCTGGCTGTCTCATGCAGAT 0.517000 9 44 0 0 1 0 0 TRHDE 29953 broad.mit.edu 37 12 72863624 72863624 + Missense_Mutation SNP C C T TCGA-CQ-7069-01A-11D-2394-08 TCGA-CQ-7069-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33d8d1bd-6131-4d2b-8b70-89be0ef1dee9 86ad483e-92e1-4e14-ada6-d41574713c7a g.chr12:72863624C>T ENST00000261180.4 + 4 1363 c.1267C>T c.(1267-1269)Ccc>Tcc p.P423S NM_013381.2 NP_037513.1 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 423 cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 79 ACTGCTGGATCCCAGTGTTTC 0.373000 8 43 0 0 1 0 0 FOXF2 2295 broad.mit.edu 37 6 1391351 1391351 + Nonsense_Mutation SNP C C G TCGA-CQ-7069-01A-11D-2394-08 TCGA-CQ-7069-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33d8d1bd-6131-4d2b-8b70-89be0ef1dee9 86ad483e-92e1-4e14-ada6-d41574713c7a g.chr6:1391351C>G ENST00000259806.1 + 1 1283 c.1169C>G c.(1168-1170)tCa>tGa p.S390* NM_001452.1 NP_001443.1 Q12947 FOXF2_HUMAN forkhead box F2 390 epithelial to mesenchymal transition|genitalia development|palate development|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding large_intestine(2)|lung(5)|prostate(1) 8 Ovarian(93;0.0733) all_lung(73;0.0713)|all_hematologic(90;0.0895) OV - Ovarian serous cystadenocarcinoma(45;0.095) GAGGACCTCTCAGGTAACGCA 0.677000 5 23 0 0 1 0 0 CHST2 9435 broad.mit.edu 37 3 142840967 142840967 + Missense_Mutation SNP C C T TCGA-CQ-7069-01A-11D-2394-08 TCGA-CQ-7069-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33d8d1bd-6131-4d2b-8b70-89be0ef1dee9 86ad483e-92e1-4e14-ada6-d41574713c7a g.chr3:142840967C>T ENST00000309575.3 + 2 2693 c.1309C>T c.(1309-1311)Cgg>Tgg p.R437W NM_004267.4 NP_004258.2 Q9Y4C5 CHST2_HUMAN carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2 437 inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process integral to membrane|intrinsic to Golgi membrane|trans-Golgi network N-acetylglucosamine 6-O-sulfotransferase activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2) 22 CAAGACACTACGGAGAGTGTA 0.602000 12 49 0 0 1 0 0 MBD6 114785 broad.mit.edu 37 12 57919632 57919632 + Missense_Mutation SNP C C G TCGA-CQ-7069-01A-11D-2394-08 TCGA-CQ-7069-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33d8d1bd-6131-4d2b-8b70-89be0ef1dee9 86ad483e-92e1-4e14-ada6-d41574713c7a g.chr12:57919632C>G ENST00000355673.3 + 6 1237 c.881C>G c.(880-882)aCt>aGt p.T294S MBD6_ENST00000431731.2_Missense_Mutation_p.T294S NM_052897.3 NP_443129.3 Q96DN6 MBD6_HUMAN methyl-CpG binding domain protein 6 294 Pro-rich. chromosome|nucleus chromatin binding|DNA binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1) 31 TCTTCAGCCACTATGCACCTG 0.667000 22 73 0 0 1 0 0 FBXL13 222235 broad.mit.edu 37 7 102669089 102669089 + Missense_Mutation SNP G G C TCGA-CQ-7069-01A-11D-2394-08 TCGA-CQ-7069-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33d8d1bd-6131-4d2b-8b70-89be0ef1dee9 86ad483e-92e1-4e14-ada6-d41574713c7a g.chr7:102669089G>C ENST00000393772.2 - 4 601 c.175C>G c.(175-177)Cac>Gac p.H59D FBXL13_ENST00000471074.1_Intron|FBXL13_ENST00000456695.1_Missense_Mutation_p.H59D|FBXL13_ENST00000455112.2_Missense_Mutation_p.H59D|FBXL13_ENST00000436908.1_Missense_Mutation_p.H59D|FBXL13_ENST00000379305.3_Missense_Mutation_p.H59D|FBXL13_ENST00000379306.3_Missense_Mutation_p.H59D|FBXL13_ENST00000379308.3_Missense_Mutation_p.H59D|FBXL13_ENST00000313221.4_Missense_Mutation_p.H59D Q8NEE6 FXL13_HUMAN F-box and leucine-rich repeat protein 13 59 NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1) 27 GAGTGCCAGTGATGAAATACA 0.313000 16 33 0 0 1 0 0 ZNF679 168417 broad.mit.edu 37 7 63709405 63709405 + Splice_Site SNP G G C TCGA-CQ-7069-01A-11D-2394-08 TCGA-CQ-7069-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33d8d1bd-6131-4d2b-8b70-89be0ef1dee9 86ad483e-92e1-4e14-ada6-d41574713c7a g.chr7:63709405G>C ENST00000421025.1 + 2 179 c.e2-1 NM_001159524.1|NM_153363.2 NP_001152996.1|NP_699194.2 Q8IYX0 ZN679_HUMAN zinc finger protein 679 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1) 18 TCTGCGTCCAGAGCTCCAGTT 0.498000 5 15 0 0 1 0 0 LYSMD4 145748 broad.mit.edu 37 15 100269687 100269687 + Missense_Mutation SNP C C G TCGA-CQ-7069-01A-11D-2394-08 TCGA-CQ-7069-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33d8d1bd-6131-4d2b-8b70-89be0ef1dee9 86ad483e-92e1-4e14-ada6-d41574713c7a g.chr15:100269687C>G ENST00000545021.1 - 4 968 c.154G>C c.(154-156)Gag>Cag p.E52Q LYSMD4_ENST00000332728.4_Missense_Mutation_p.E178Q|LYSMD4_ENST00000409796.1_Missense_Mutation_p.E178Q|LYSMD4_ENST00000344791.2_Missense_Mutation_p.E179Q|LYSMD4_ENST00000604213.1_Intron Q5XG99 LYSM4_HUMAN LysM, putative peptidoglycan-binding, domain containing 4 178 cell wall macromolecule catabolic process integral to membrane breast(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(3)|stomach(1) 10 Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163) OV - Ovarian serous cystadenocarcinoma(32;0.00162)|LUSC - Lung squamous cell carcinoma(107;0.17)|Lung(145;0.208) ACTGCACGCTCAATATCCTGG 0.577000 46 147 0 0 1 0 0 CDC42BPA 8476 broad.mit.edu 37 1 227381593 227381593 + Missense_Mutation SNP G G C TCGA-CQ-7069-01A-11D-2394-08 TCGA-CQ-7069-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33d8d1bd-6131-4d2b-8b70-89be0ef1dee9 86ad483e-92e1-4e14-ada6-d41574713c7a g.chr1:227381593G>C ENST00000366769.3 - 5 1784 c.493C>G c.(493-495)Cta>Gta p.L165V CDC42BPA_ENST00000366767.3_Missense_Mutation_p.L165V|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.L165V|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.L165V|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.L165V|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.L165V|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.L165V NM_003607.3 NP_003598.2 Q5VT25 MRCKA_HUMAN CDC42 binding protein kinase alpha (DMPK-like) 165 Protein kinase. actin cytoskeleton reorganization|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2) 77 all_cancers(173;0.156)|Prostate(94;0.0792) TTGCTGAGTAGAGTAAGCAAA 0.338000 20 32 0 0 1 0 0 BRINP3 339479 broad.mit.edu 37 1 190067866 190067866 + Missense_Mutation SNP G G A TCGA-CQ-7069-01A-11D-2394-08 TCGA-CQ-7069-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33d8d1bd-6131-4d2b-8b70-89be0ef1dee9 86ad483e-92e1-4e14-ada6-d41574713c7a g.chr1:190067866G>A ENST00000367462.3 - 8 1814 c.1583C>T c.(1582-1584)tCc>tTc p.S528F FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Missense_Mutation_p.S426F NM_199051.1 NP_950252.1 Q76B58 FAM5C_HUMAN 528 extracellular region NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2) 164 Prostate(682;0.198) CTTACGCCAGGAGGGATCAAA 0.433000 15 128 0 0 1 0 0 TRBV2 28620 broad.mit.edu 37 7 142001029 142001029 + RNA SNP C C T TCGA-CQ-7069-01A-11D-2394-08 TCGA-CQ-7069-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33d8d1bd-6131-4d2b-8b70-89be0ef1dee9 86ad483e-92e1-4e14-ada6-d41574713c7a g.chr7:142001029C>T ENST00000455382.2 + 0 195 AGTGATCTTGCACTGTGTCCC 0.423000 6 21 0 0 1 0 0 OR1F2P 26184 broad.mit.edu 37 16 3266372 3266372 + RNA SNP C C T TCGA-CQ-7069-01A-11D-2394-08 TCGA-CQ-7069-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33d8d1bd-6131-4d2b-8b70-89be0ef1dee9 86ad483e-92e1-4e14-ada6-d41574713c7a g.chr16:3266372C>T ENST00000576468.1 + 0 418 ATGGCACCATCATGTCTCCAT 0.522000 11 27 0 0 1 0 0 ZFP64 55734 broad.mit.edu 37 20 50701539 50701539 + Missense_Mutation SNP C C G TCGA-CQ-7069-01A-11D-2394-08 TCGA-CQ-7069-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33d8d1bd-6131-4d2b-8b70-89be0ef1dee9 86ad483e-92e1-4e14-ada6-d41574713c7a g.chr20:50701539C>G ENST00000361387.2 - 9 1555 c.1495G>C c.(1495-1497)Gag>Cag p.E499Q ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000371523.4_Missense_Mutation_p.E280Q NM_199427.2 NP_955459.2 Q9NPA5 ZF64A_HUMAN ZFP64 zinc finger protein 347 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 33 TAGCTGCACTCTGGACACTTC 0.642000 38 142 0 0 1 0 0 XIST 7503 broad.mit.edu 37 X 73066583 73066583 + RNA SNP G G A TCGA-CQ-7069-01A-11D-2394-08 TCGA-CQ-7069-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33d8d1bd-6131-4d2b-8b70-89be0ef1dee9 86ad483e-92e1-4e14-ada6-d41574713c7a g.chrX:73066583G>A ENST00000429829.1 - 0 6005 NR_001564.2 GGGAGGCCAAGAAATGGGGCC 0.463000 18 56 0 0 1 0 0 OR1F2P 26184 broad.mit.edu 37 16 3265799 3265799 + RNA SNP C C T TCGA-CQ-7069-01A-11D-2394-08 TCGA-CQ-7069-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33d8d1bd-6131-4d2b-8b70-89be0ef1dee9 86ad483e-92e1-4e14-ada6-d41574713c7a g.chr16:3265799C>T ENST00000576468.1 + 0 418 ACTTCTTCCTCAGCAACATGT 0.542000 19 70 0 0 1 0 0 DNAH9 1770 broad.mit.edu 37 17 11597683 11597683 + Missense_Mutation SNP G G C TCGA-CQ-7069-01A-11D-2394-08 TCGA-CQ-7069-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33d8d1bd-6131-4d2b-8b70-89be0ef1dee9 86ad483e-92e1-4e14-ada6-d41574713c7a g.chr17:11597683G>C ENST00000262442.3 + 22 4859 c.4791G>C c.(4789-4791)aaG>aaC p.K1597N DNAH9_ENST00000454412.2_Missense_Mutation_p.K1597N NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 1597 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) TCGACACCAAGAGGCTTGCCT 0.512000 21 42 0 0 1 0 0 VPS52 6293 broad.mit.edu 37 6 33232217 33232217 + Missense_Mutation SNP C C T TCGA-CQ-7069-01A-11D-2394-08 TCGA-CQ-7069-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33d8d1bd-6131-4d2b-8b70-89be0ef1dee9 86ad483e-92e1-4e14-ada6-d41574713c7a g.chr6:33232217C>T ENST00000445902.2 - 14 1676 c.1458G>A c.(1456-1458)atG>atA p.M486I VPS52_ENST00000482399.1_3'UTR|VPS52_ENST00000478934.1_5'UTR|VPS52_ENST00000436044.2_Missense_Mutation_p.M361I NM_022553.4 NP_072047.4 Q8N1B4 VPS52_HUMAN vacuolar protein sorting 52 homolog (S. cerevisiae) 486 protein transport endosome membrane|Golgi apparatus endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1) 28 TCTGAACATTCATCTCCAGGA 0.547000 24 109 0 0 1 0 0 NLRX1 79671 broad.mit.edu 37 11 119050915 119050915 + Missense_Mutation SNP G G A TCGA-CQ-7069-01A-11D-2394-08 TCGA-CQ-7069-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33d8d1bd-6131-4d2b-8b70-89be0ef1dee9 86ad483e-92e1-4e14-ada6-d41574713c7a g.chr11:119050915G>A ENST00000409109.1 + 7 2772 c.2185G>A c.(2185-2187)Gag>Aag p.E729K NLRX1_ENST00000292199.2_Missense_Mutation_p.E729K|NLRX1_ENST00000409265.4_Missense_Mutation_p.E729K|NLRX1_ENST00000469103.2_3'UTR|NLRX1_ENST00000525863.1_Missense_Mutation_p.E729K|NLRX1_ENST00000409991.1_Missense_Mutation_p.E729K Q86UT6 NLRX1_HUMAN NLR family member X1 729 Required for the repression of MAVS- induced interferon signaling. innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production mitochondrial outer membrane ATP binding cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 22 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.7e-05) TGCCCTGGATGAGGTGAACTT 0.627000 24 79 0 0 1 0 0 OR1F2P 26184 broad.mit.edu 37 16 3266428 3266428 + RNA SNP C C G TCGA-CQ-7069-01A-11D-2394-08 TCGA-CQ-7069-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33d8d1bd-6131-4d2b-8b70-89be0ef1dee9 86ad483e-92e1-4e14-ada6-d41574713c7a g.chr16:3266428C>G ENST00000576468.1 + 0 418 GATATAGCAGCTGCTGTGAGG 0.493000 5 16 0 0 1 0 0 GPR112 139378 broad.mit.edu 37 X 135429020 135429020 + Nonsense_Mutation SNP C C G TCGA-CQ-7069-01A-11D-2394-08 TCGA-CQ-7069-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33d8d1bd-6131-4d2b-8b70-89be0ef1dee9 86ad483e-92e1-4e14-ada6-d41574713c7a g.chrX:135429020C>G ENST00000394143.1 + 6 3446 c.3155C>G c.(3154-3156)tCa>tGa p.S1052* GPR112_ENST00000394141.1_Nonsense_Mutation_p.S847*|GPR112_ENST00000412101.1_Nonsense_Mutation_p.S847*|GPR112_ENST00000287534.4_Nonsense_Mutation_p.S989*|GPR112_ENST00000370652.1_Nonsense_Mutation_p.S1052* NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 1052 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) TCAGATGTCTCAAATCTATCC 0.468000 79 249 0 0 1 0 0 POLN 353497 broad.mit.edu 37 4 2160929 2160929 + Missense_Mutation SNP G G C TCGA-CQ-7069-01A-11D-2394-08 TCGA-CQ-7069-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33d8d1bd-6131-4d2b-8b70-89be0ef1dee9 86ad483e-92e1-4e14-ada6-d41574713c7a g.chr4:2160929G>C ENST00000511885.2 - 14 1917 c.1564C>G c.(1564-1566)Ctg>Gtg p.L522V POLN_ENST00000382865.1_Missense_Mutation_p.L522V|POLN_ENST00000515357.1_5'UTR Q7Z5Q5 DPOLN_HUMAN polymerase (DNA directed) nu 522 DNA repair|DNA replication nucleus DNA binding|DNA-directed DNA polymerase activity kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2) 28 OV - Ovarian serous cystadenocarcinoma(23;0.0955) AGGTCTCGCAGAGCATTTAAC 0.328000 DNA polymerases (catalytic subunits) 18 59 0 0 1 0 0 PDSS2 57107 broad.mit.edu 37 6 107655427 107655427 + Missense_Mutation SNP C C T TCGA-CQ-7069-01A-11D-2394-08 TCGA-CQ-7069-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33d8d1bd-6131-4d2b-8b70-89be0ef1dee9 86ad483e-92e1-4e14-ada6-d41574713c7a g.chr6:107655427C>T ENST00000369037.4 - 2 683 c.406G>A c.(406-408)Gac>Aac p.D136N PDSS2_ENST00000453874.2_Missense_Mutation_p.D136N|PDSS2_ENST00000369031.4_Missense_Mutation_p.D136N NM_020381.3 NP_065114.3 Q86YH6 DLP1_HUMAN prenyl (decaprenyl) diphosphate synthase, subunit 2 136 isoprenoid biosynthetic process|ubiquinone biosynthetic process mitochondrion protein heterodimerization activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(3) 19 Breast(9;0.0127) all_cancers(87;3.63e-05)|Acute lymphoblastic leukemia(125;2.86e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.0108)|Colorectal(196;0.156)|Lung NSC(302;0.211) BRCA - Breast invasive adenocarcinoma(8;0.0101)|all cancers(7;0.243) BRCA - Breast invasive adenocarcinoma(108;0.112)|OV - Ovarian serous cystadenocarcinoma(136;0.173)|all cancers(137;0.191) CTGACCATGTCATAGTTCTGA 0.463000 19 70 0 0 1 0 0 ZNF736 728927 broad.mit.edu 37 7 63809063 63809063 + Missense_Mutation SNP T T G TCGA-CQ-7069-01A-11D-2394-08 TCGA-CQ-7069-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33d8d1bd-6131-4d2b-8b70-89be0ef1dee9 86ad483e-92e1-4e14-ada6-d41574713c7a g.chr7:63809063T>G ENST00000355095.4 + 5 1144 c.822T>G c.(820-822)aaT>aaG p.N274K ZNF736_ENST00000423484.1_Missense_Mutation_p.N274K NM_001170905.1 NP_001164376.1 B4DX44 ZN736_HUMAN zinc finger protein 736 274 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(6)|stomach(1)|urinary_tract(1) 9 ACCTTACTAATCATAAGAGAA 0.378000 2 6 0 0 1 0 0 BHLHE40 8553 broad.mit.edu 37 3 5025010 5025010 + Missense_Mutation SNP G G A TCGA-CQ-7069-01A-11D-2394-08 TCGA-CQ-7069-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33d8d1bd-6131-4d2b-8b70-89be0ef1dee9 86ad483e-92e1-4e14-ada6-d41574713c7a g.chr3:5025010G>A ENST00000256495.3 + 5 1475 c.872G>A c.(871-873)cGg>cAg p.R291Q NM_003670.2 NP_003661.1 O14503 BHE40_HUMAN basic helix-loop-helix family, member e40 291 Golgi apparatus|nucleolus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(2) 12 AAAAAGAACCGGATGCAGCTT 0.562000 5 90 0 0 1 0 0 SGK1 6446 broad.mit.edu 37 6 134492849 134492849 + Missense_Mutation SNP G G C TCGA-CQ-7069-01A-11D-2394-08 TCGA-CQ-7069-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33d8d1bd-6131-4d2b-8b70-89be0ef1dee9 86ad483e-92e1-4e14-ada6-d41574713c7a g.chr6:134492849G>C ENST00000367858.5 - 11 1690 c.1093C>G c.(1093-1095)Cat>Gat p.H365D SGK1_ENST00000367857.5_Missense_Mutation_p.H260D|SGK1_ENST00000413996.3_Missense_Mutation_p.H284D|SGK1_ENST00000489458.2_5'UTR|SGK1_ENST00000528577.1_Missense_Mutation_p.H298D|SGK1_ENST00000237305.7_Missense_Mutation_p.H270D|SGK1_ENST00000475719.2_Missense_Mutation_p.H226D NM_001143676.1 NP_001137148.1 O00141 SGK1_HUMAN serum/glucocorticoid regulated kinase 1 270 AGC-kinase C-terminal. apoptosis|response to stress|sodium ion transport endoplasmic reticulum|nucleus|plasma membrane ATP binding|protein binding|protein serine/threonine kinase activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1) 46 Colorectal(23;0.221) OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847) GGCTGCTTATGAAGCACCTCA 0.493000 8 30 0 0 1 0 0 JMJD1C 221037 broad.mit.edu 37 10 64960345 64960345 + Missense_Mutation SNP C C T TCGA-CQ-7069-01A-11D-2394-08 TCGA-CQ-7069-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33d8d1bd-6131-4d2b-8b70-89be0ef1dee9 86ad483e-92e1-4e14-ada6-d41574713c7a g.chr10:64960345C>T ENST00000399262.2 - 11 5385 c.5167G>A c.(5167-5169)Gag>Aag p.E1723K JMJD1C_ENST00000542921.1_Missense_Mutation_p.E1541K|JMJD1C_ENST00000399251.1_Intron|JMJD1C_ENST00000402544.1_Missense_Mutation_p.E1504K NM_032776.1 NP_116165.1 Q15652 JHD2C_HUMAN jumonji domain containing 1C 1723 blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 77 Prostate(12;0.0119)|all_hematologic(501;0.191) GGCCCTATCTCACAGCAGGAG 0.398000 10 18 0 0 1 0 0 TRIM6 117854 broad.mit.edu 37 11 5626677 5626677 + Missense_Mutation SNP G G C TCGA-CQ-7069-01A-11D-2394-08 TCGA-CQ-7069-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33d8d1bd-6131-4d2b-8b70-89be0ef1dee9 86ad483e-92e1-4e14-ada6-d41574713c7a g.chr11:5626677G>C ENST00000380097.3 + 4 956 c.714G>C c.(712-714)aaG>aaC p.K238N TRIM6_ENST00000515022.1_Missense_Mutation_p.K35N|AC015691.13_ENST00000394793.2_RNA|HBG2_ENST00000380259.2_Intron|TRIM6_ENST00000445329.1_Missense_Mutation_p.K35N|TRIM6_ENST00000380107.1_Missense_Mutation_p.K184N|TRIM6_ENST00000506134.1_Missense_Mutation_p.K35N|TRIM6_ENST00000278302.5_Missense_Mutation_p.K210N|TRIM6-TRIM34_ENST00000354852.5_Missense_Mutation_p.K238N|TRIM6_ENST00000507320.1_Missense_Mutation_p.K35N NM_001003818.2|NM_001198644.1|NM_001198645.1 NP_001003818.1|NP_001185573.1|NP_001185574.1 tripartite motif containing 6 breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|prostate(2)|stomach(1) 22 Lung NSC(207;2.23e-07)|all_lung(207;1.81e-06)|Medulloblastoma(188;0.00225)|Breast(177;0.0101)|all_neural(188;0.0212) Epithelial(150;1.12e-45)|BRCA - Breast invasive adenocarcinoma(625;0.00101)|LUSC - Lung squamous cell carcinoma(625;0.192) AGGAAGAGAAGAAGGGGCTAC 0.517000 OREG0003723 type=REGULATORY REGION|Gene=TRIM6|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 25 71 0 0 1 0 0 ZNF536 9745 broad.mit.edu 37 19 31039157 31039157 + Silent SNP T T G TCGA-CQ-7069-01A-11D-2394-08 TCGA-CQ-7069-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33d8d1bd-6131-4d2b-8b70-89be0ef1dee9 86ad483e-92e1-4e14-ada6-d41574713c7a g.chr19:31039157T>G ENST00000355537.3 + 4 2778 c.2631T>G c.(2629-2631)tcT>tcG p.S877S NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 877 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) CGGGCATGTCTTCGGAGGTCC 0.557000 42 86 0 0 1 0 0 TBC1D3P2 440452 broad.mit.edu 37 17 60351457 60351457 + Silent SNP G G A rs4968502 by1000genomes TCGA-CQ-7069-01A-11D-2394-08 TCGA-CQ-7069-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33d8d1bd-6131-4d2b-8b70-89be0ef1dee9 86ad483e-92e1-4e14-ada6-d41574713c7a g.chr17:60351457G>A ENST00000602932.1 - 2 234 c.204C>T c.(202-204)cgC>cgT p.R68R TBC1D3P2_ENST00000581291.1_RNA CCAACTACCCGCGACCTCTAC 0.537000 15 391 0 0 1 0 0 OR5B17 219965 broad.mit.edu 37 11 58125894 58125894 + Silent SNP G G A TCGA-CQ-7069-01A-11D-2394-08 TCGA-CQ-7069-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33d8d1bd-6131-4d2b-8b70-89be0ef1dee9 86ad483e-92e1-4e14-ada6-d41574713c7a g.chr11:58125894G>A ENST00000357377.3 - 1 648 c.649C>T c.(649-651)Ctg>Ttg p.L217L NM_001005489.1 NP_001005489.1 Q8NGF7 OR5BH_HUMAN olfactory receptor, family 5, subfamily B, member 17 217 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 Esophageal squamous(5;0.0027) Breast(21;0.0778) AATATGAACAGATAGGAAATC 0.363000 12 51 0 0 1 0 0 ADAM23 8745 broad.mit.edu 37 2 207345997 207345997 + Silent SNP C C T rs141683172 TCGA-CQ-7069-01A-11D-2394-08 TCGA-CQ-7069-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33d8d1bd-6131-4d2b-8b70-89be0ef1dee9 86ad483e-92e1-4e14-ada6-d41574713c7a g.chr2:207345997C>T ENST00000264377.3 + 3 802 c.474C>T c.(472-474)ttC>ttT p.F158F ADAM23_ENST00000374415.3_Silent_p.F158F|ADAM23_ENST00000374416.1_Silent_p.F158F NM_003812.2 NP_003803.1 O75077 ADA23_HUMAN ADAM metallopeptidase domain 23 158 cell adhesion|central nervous system development|proteolysis extracellular region|integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1) 51 LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205) TTGAAGCCTTCGGCTCCAAAT 0.383000 12 41 0 0 1 0 0 PLXND1 23129 broad.mit.edu 37 3 129290645 129290645 + Silent SNP G G T TCGA-CQ-7069-01A-11D-2394-08 TCGA-CQ-7069-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33d8d1bd-6131-4d2b-8b70-89be0ef1dee9 86ad483e-92e1-4e14-ada6-d41574713c7a g.chr3:129290645G>T ENST00000393239.1 - 16 3298 c.3120C>A c.(3118-3120)gcC>gcA p.A1040A PLXND1_ENST00000324093.4_Silent_p.A1040A Q9Y4D7 PLXD1_HUMAN plexin D1 1040 IPT/TIG 2. axon guidance integral to membrane|intracellular|plasma membrane PLXND1/TMCC1(4) NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 72 GAGCCGGCAGGGCCCCCTCAG 0.662000 19 45 1.50039e-11 1.58309e-11 1 1 0 EPPK1 83481 broad.mit.edu 37 8 144945596 144945596 + Missense_Mutation SNP G G A TCGA-CQ-7069-01A-11D-2394-08 TCGA-CQ-7069-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33d8d1bd-6131-4d2b-8b70-89be0ef1dee9 86ad483e-92e1-4e14-ada6-d41574713c7a g.chr8:144945596G>A ENST00000525985.1 - 2 1897 c.1826C>T c.(1825-1827)aCg>aTg p.T609M P58107 EPIPL_HUMAN epiplakin 1 609 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) AATGCAGCCCGTACCCTGCAG 0.657000 9 18 0 0 1 0 0 LRRC40 55631 broad.mit.edu 37 1 70616830 70616830 + Missense_Mutation SNP T T C rs3180401 byFrequency TCGA-CQ-7069-01A-11D-2394-08 TCGA-CQ-7069-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33d8d1bd-6131-4d2b-8b70-89be0ef1dee9 86ad483e-92e1-4e14-ada6-d41574713c7a g.chr1:70616830T>C ENST00000370952.3 - 13 1577 c.1498A>G c.(1498-1500)Atc>Gtc p.I500V NM_017768.4 NP_060238.3 Q9H9A6 LRC40_HUMAN leucine rich repeat containing 40 500 I -> V (in dbSNP:rs3180401). breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(2) 27 GAAAGATTGATCGTTTGCAGT 0.294000 2 14 0 0 1 0 0 DNAJC4 3338 broad.mit.edu 37 11 63999401 63999401 + Missense_Mutation SNP G G A TCGA-CQ-7069-01A-11D-2394-08 TCGA-CQ-7069-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33d8d1bd-6131-4d2b-8b70-89be0ef1dee9 86ad483e-92e1-4e14-ada6-d41574713c7a g.chr11:63999401G>A ENST00000321685.3 + 3 610 c.145G>A c.(145-147)Gaa>Aaa p.E49K RP11-783K16.14_ENST00000534988.1_RNA|RP11-783K16.14_ENST00000539963.1_RNA|DNAJC4_ENST00000355040.4_Missense_Mutation_p.E49K|DNAJC4_ENST00000321460.5_Missense_Mutation_p.E49K NM_005528.3 NP_005519.2 Q9NNZ3 DNJC4_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 4 49 J. protein folding|response to unfolded protein integral to membrane|membrane fraction heat shock protein binding|unfolded protein binding endometrium(1)|lung(1)|prostate(1) 3 CAGCACTGAGGAAGTTAAACG 0.552000 27 58 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179444520 179444520 + Silent SNP A A G TCGA-CQ-7069-01A-11D-2394-08 TCGA-CQ-7069-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33d8d1bd-6131-4d2b-8b70-89be0ef1dee9 86ad483e-92e1-4e14-ada6-d41574713c7a g.chr2:179444520A>G ENST00000589042.1 - 319 67628 c.67404T>C c.(67402-67404)tgT>tgC p.C22468C TTN-AS1_ENST00000419746.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN_ENST00000591111.1_Silent_p.C20827C|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342175.6_Silent_p.C13595C|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Silent_p.C13528C|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.C13403C|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342992.6_Silent_p.C19900C|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 20827 Ig-like 116. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AGCCAATGCTACAGGATGACT 0.413000 14 85 0 0 1 0 0 FBXW10 10517 broad.mit.edu 37 17 18653345 18653345 + Silent SNP G G C TCGA-CQ-7069-01A-11D-2394-08 TCGA-CQ-7069-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33d8d1bd-6131-4d2b-8b70-89be0ef1dee9 86ad483e-92e1-4e14-ada6-d41574713c7a g.chr17:18653345G>C ENST00000308799.4 + 3 1200 c.981G>C c.(979-981)ctG>ctC p.L327L FBXW10_ENST00000395665.4_Silent_p.L298L|FBXW10_ENST00000301938.4_Silent_p.L298L|FBXW10_ENST00000395667.1_Silent_p.L298L Q5XX13 FBW10_HUMAN F-box and WD repeat domain containing 10 298 NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 42 GACACACCCTGAACAAGTGCG 0.537000 37 67 0 0 1 0 0 ZNF623 9831 broad.mit.edu 37 8 144732088 144732088 + Missense_Mutation SNP G G A TCGA-CQ-7069-01A-11D-2394-08 TCGA-CQ-7069-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33d8d1bd-6131-4d2b-8b70-89be0ef1dee9 86ad483e-92e1-4e14-ada6-d41574713c7a g.chr8:144732088G>A ENST00000501748.2 + 1 135 c.46G>A c.(46-48)Gag>Aag p.E16K ZNF623_ENST00000526926.1_5'UTR|ZNF623_ENST00000458270.2_5'UTR NM_014789.3 NP_055604.3 O75123 ZN623_HUMAN zinc finger protein 623 16 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3) 27 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) AGGAACTGGTGAGAAGAAGGT 0.458000 21 68 0 0 1 0 0 KIAA1407 57577 broad.mit.edu 37 3 113697072 113697072 + Missense_Mutation SNP G G T TCGA-CQ-7069-01A-11D-2394-08 TCGA-CQ-7069-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33d8d1bd-6131-4d2b-8b70-89be0ef1dee9 86ad483e-92e1-4e14-ada6-d41574713c7a g.chr3:113697072G>T ENST00000295878.3 - 16 2713 c.2567C>A c.(2566-2568)tCt>tAt p.S856Y NM_020817.1 NP_065868.1 Q8NCU4 K1407_HUMAN KIAA1407 856 endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1) 40 CTTGCCCTGAGAATCGATCTT 0.408000 26 88 5.77227e-19 6.13876e-19 1 1 0 PARG 8505 broad.mit.edu 37 10 51093329 51093329 + Missense_Mutation SNP C C T TCGA-CQ-7069-01A-11D-2394-08 TCGA-CQ-7069-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33d8d1bd-6131-4d2b-8b70-89be0ef1dee9 86ad483e-92e1-4e14-ada6-d41574713c7a g.chr10:51093329C>T ENST00000402038.3 - 4 294 c.295G>A c.(295-297)Gca>Aca p.A99T NM_003631.2 NP_003622.2 Q86W56 PARG_HUMAN poly (ADP-ribose) glycohydrolase 584 carbohydrate metabolic process nucleus poly(ADP-ribose) glycohydrolase activity p.A584T(1) endometrium(5)|kidney(2)|lung(1)|ovary(2) 10 Epithelial(53;0.213) TGAGCTTCTGCTTCTTCAAGT 0.318000 4 59 0 0 1 0 0 N4BP2L1 90634 broad.mit.edu 37 13 32981423 32981423 + Silent SNP G G A TCGA-CQ-7069-01A-11D-2394-08 TCGA-CQ-7069-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33d8d1bd-6131-4d2b-8b70-89be0ef1dee9 86ad483e-92e1-4e14-ada6-d41574713c7a g.chr13:32981423G>A ENST00000380130.2 - 3 455 c.360C>T c.(358-360)aaC>aaT p.N120N N4BP2L1_ENST00000530622.2_Silent_p.N14N|N4BP2L1_ENST00000459716.1_5'UTR|N4BP2L1_ENST00000380139.4_Silent_p.N120N|N4BP2L1_ENST00000380133.2_Silent_p.N120N NM_052818.2 NP_438169.2 Q5TBK1 N42L1_HUMAN NEDD4 binding protein 2-like 1 120 cell killing ATP binding large_intestine(1)|lung(2)|ovary(1)|skin(1) 5 Lung SC(185;0.0262) all cancers(112;6.3e-06)|Epithelial(112;3.51e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00607)|BRCA - Breast invasive adenocarcinoma(63;0.0171) AGGCGTGGAGGTTGGTATTAT 0.398000 15 77 0 0 1 0 0 GPR112 139378 broad.mit.edu 37 X 135432497 135432497 + Missense_Mutation SNP C C T TCGA-CQ-7069-01A-11D-2394-08 TCGA-CQ-7069-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33d8d1bd-6131-4d2b-8b70-89be0ef1dee9 86ad483e-92e1-4e14-ada6-d41574713c7a g.chrX:135432497C>T ENST00000394143.1 + 6 6923 c.6632C>T c.(6631-6633)cCa>cTa p.P2211L GPR112_ENST00000394141.1_Missense_Mutation_p.P2006L|GPR112_ENST00000412101.1_Missense_Mutation_p.P2006L|GPR112_ENST00000287534.4_Missense_Mutation_p.P2148L|GPR112_ENST00000370652.1_Missense_Mutation_p.P2211L NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 2211 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) GTGTCTTCACCAATATCGTCC 0.448000 35 108 0 0 1 0 0 RB1 5925 broad.mit.edu 37 13 48955544 48955544 + Missense_Mutation SNP G G A TCGA-CQ-7069-01A-11D-2394-08 TCGA-CQ-7069-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33d8d1bd-6131-4d2b-8b70-89be0ef1dee9 86ad483e-92e1-4e14-ada6-d41574713c7a g.chr13:48955544G>A ENST00000267163.4 + 17 1798 c.1660G>A c.(1660-1662)Gaa>Aaa p.E554K NM_000321.2 NP_000312.2 P06400 RB_HUMAN retinoblastoma 1 554 Domain A.|Pocket; binds T and E1A. androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation chromatin|PML body|Rb-E2F complex|SWI/SNF complex androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.0?(15)|p.?(8)|p.C553fs*53(1) NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31) 496 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) AGAACGATGTGAACATCGAAT 0.323000 6 """D, Mis, N, F, S""" """retinoblastoma, sarcoma, breast, small cell lung""" """retinoblastoma, sarcoma, breast, small cell lung""" Hereditary Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) 7 28 0 0 1 0 0 THSD1 55901 broad.mit.edu 37 13 52960272 52960272 + Silent SNP C C A TCGA-CQ-7069-01A-11D-2394-08 TCGA-CQ-7069-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33d8d1bd-6131-4d2b-8b70-89be0ef1dee9 86ad483e-92e1-4e14-ada6-d41574713c7a g.chr13:52960272C>A ENST00000258613.4 - 4 1249 c.1071G>T c.(1069-1071)ggG>ggT p.G357G THSD1_ENST00000349258.4_Intron|THSD1_ENST00000544466.1_5'UTR NM_018676.3 NP_061146.1 Q9NS62 THSD1_HUMAN thrombospondin, type I, domain containing 1 357 TSP type-1. extracellular region|integral to membrane|intracellular membrane-bounded organelle breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.8e-08) TGACACCATCCCCACATGTGG 0.527000 26 140 1.7367e-05 1.79013e-05 1 1 0 CHUK 1147 broad.mit.edu 37 10 101961844 101961844 + Splice_Site SNP C C T TCGA-CQ-7069-01A-11D-2394-08 TCGA-CQ-7069-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33d8d1bd-6131-4d2b-8b70-89be0ef1dee9 86ad483e-92e1-4e14-ada6-d41574713c7a g.chr10:101961844C>T ENST00000370397.7 - 14 1656 c.e14+1 NM_001278.3 NP_001269.3 O15111 IKKA_HUMAN conserved helix-loop-helix ubiquitous kinase I-kappaB phosphorylation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway CD40 receptor complex|cytosol|internal side of plasma membrane|nucleus ATP binding|identical protein binding|IkappaB kinase activity p.?(1) breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1) 27 Colorectal(252;0.117) Epithelial(162;2.05e-10)|all cancers(201;1.91e-08) AATGATTTTACCTCAGCATAG 0.313000 20 43 0 0 1 0 0 ABCA5 23461 broad.mit.edu 37 17 67260974 67260974 + Missense_Mutation SNP C C G TCGA-CQ-7069-01A-11D-2394-08 TCGA-CQ-7069-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33d8d1bd-6131-4d2b-8b70-89be0ef1dee9 86ad483e-92e1-4e14-ada6-d41574713c7a g.chr17:67260974C>G ENST00000392676.3 - 24 3281 c.3217G>C c.(3217-3219)Gat>Cat p.D1073H ABCA5_ENST00000588877.1_Missense_Mutation_p.D1073H|ABCA5_ENST00000392677.2_Missense_Mutation_p.D1074H Q8WWZ7 ABCA5_HUMAN ATP-binding cassette, sub-family A (ABC1), member 5 1073 cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane ATP binding|ATPase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 54 Breast(10;3.72e-11) AAGGGGATATCAACAACAGCT 0.294000 11 36 0 0 1 0 0 KLHL4 56062 broad.mit.edu 37 X 86890598 86890598 + Missense_Mutation SNP G G T TCGA-CQ-7069-01A-11D-2394-08 TCGA-CQ-7069-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33d8d1bd-6131-4d2b-8b70-89be0ef1dee9 86ad483e-92e1-4e14-ada6-d41574713c7a g.chrX:86890598G>T ENST00000373119.4 + 9 1893 c.1748G>T c.(1747-1749)tGc>tTc p.C583F KLHL4_ENST00000373114.4_Missense_Mutation_p.C583F NM_019117.4 NP_061990.2 Q9C0H6 KLHL4_HUMAN kelch-like family member 4 583 cytoplasm|microtubule cytoskeleton|nucleolus actin binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1) 67 GGAAGTTCCTGCCTCAAATCA 0.393000 8 31 2.80697e-09 2.93855e-09 1 1 0 NXPH1 30010 broad.mit.edu 37 7 8791010 8791010 + Missense_Mutation SNP G G C TCGA-CQ-7069-01A-11D-2394-08 TCGA-CQ-7069-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33d8d1bd-6131-4d2b-8b70-89be0ef1dee9 86ad483e-92e1-4e14-ada6-d41574713c7a g.chr7:8791010G>C ENST00000405863.1 + 3 1338 c.427G>C c.(427-429)Gat>Cat p.D143H NXPH1_ENST00000497400.1_3'UTR|NXPH1_ENST00000602349.1_Missense_Mutation_p.D26H NM_152745.2 NP_689958.1 P58417 NXPH1_HUMAN neurexophilin 1 143 III. extracellular region breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|ovary(1) 17 Ovarian(82;0.0628) UCEC - Uterine corpus endometrioid carcinoma (126;0.101) GAAAATTGTAGATCATGGCAA 0.388000 17 47 0 0 1 0 0 OR5D14 219436 broad.mit.edu 37 11 55563802 55563802 + Missense_Mutation SNP C C G TCGA-CQ-7069-01A-11D-2394-08 TCGA-CQ-7069-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33d8d1bd-6131-4d2b-8b70-89be0ef1dee9 86ad483e-92e1-4e14-ada6-d41574713c7a g.chr11:55563802C>G ENST00000335605.1 + 1 771 c.771C>G c.(769-771)atC>atG p.I257M NM_001004735.1 NP_001004735.1 Q8NGL3 OR5DE_HUMAN olfactory receptor, family 5, subfamily D, member 14 257 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1) 48 all_epithelial(135;0.196) ATGGGACCATCCTTTTCCTTT 0.483000 19 68 0 0 1 0 0 PAX7 5081 broad.mit.edu 37 1 19062154 19062154 + Missense_Mutation SNP C C T TCGA-CQ-7069-01A-11D-2394-08 TCGA-CQ-7069-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33d8d1bd-6131-4d2b-8b70-89be0ef1dee9 86ad483e-92e1-4e14-ada6-d41574713c7a g.chr1:19062154C>T ENST00000420770.2 + 8 1267 c.1184C>T c.(1183-1185)gCg>gTg p.A395V PAX7_ENST00000400661.3_Missense_Mutation_p.A393V|PAX7_ENST00000375375.3_Missense_Mutation_p.A395V NM_001135254.1 NP_001128726.1 P23759 PAX7_HUMAN paired box 7 395 anti-apoptosis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity PAX7/FOXO1(197) breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2) 31 Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576) AACCCCAGTGCGGTGCCCCCG 0.652000 T FOXO1A alveolar rhabdomyosarcoma 11 107 0 0 1 0 0 ZNF142 7701 broad.mit.edu 37 2 219508100 219508100 + Missense_Mutation SNP C C G TCGA-CQ-7069-01A-11D-2394-08 TCGA-CQ-7069-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33d8d1bd-6131-4d2b-8b70-89be0ef1dee9 86ad483e-92e1-4e14-ada6-d41574713c7a g.chr2:219508100C>G ENST00000411696.2 - 7 3918 c.3139G>C c.(3139-3141)Gaa>Caa p.E1047Q ZNF142_ENST00000449707.1_Missense_Mutation_p.E1047Q P52746 ZN142_HUMAN zinc finger protein 142 1047 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38 Renal(207;0.0474) Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) CTGCAGCCTTCAGCCACGTGA 0.612000 30 51 0 0 1 0 0 CEP152 22995 broad.mit.edu 37 15 49052436 49052436 + Nonsense_Mutation SNP G G A TCGA-CQ-7069-01A-11D-2394-08 TCGA-CQ-7069-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33d8d1bd-6131-4d2b-8b70-89be0ef1dee9 86ad483e-92e1-4e14-ada6-d41574713c7a g.chr15:49052436G>A ENST00000380950.2 - 19 2777 c.2590C>T c.(2590-2592)Cag>Tag p.Q864* CEP152_ENST00000399334.3_Nonsense_Mutation_p.Q864*|CEP152_ENST00000325747.5_Nonsense_Mutation_p.Q771* NM_001194998.1|NM_014985.3 NP_001181927.1|NP_055800.2 O94986 CE152_HUMAN centrosomal protein 152kDa 864 centrosome duplication|G2/M transition of mitotic cell cycle centrosome|cytosol protein kinase binding breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2) 63 all_lung(180;0.0428) all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06) AGCCATCGCTGATGAGCATTT 0.413000 25 81 0 0 1 0 0 CNTNAP5 129684 broad.mit.edu 37 2 125261982 125261982 + Silent SNP G G A TCGA-CQ-7069-01A-11D-2394-08 TCGA-CQ-7069-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33d8d1bd-6131-4d2b-8b70-89be0ef1dee9 86ad483e-92e1-4e14-ada6-d41574713c7a g.chr2:125261982G>A ENST00000431078.1 + 8 1537 c.1173G>A c.(1171-1173)gtG>gtA p.V391V NM_130773.2 NP_570129.1 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 391 Laminin G-like 2. cell adhesion|signal transduction integral to membrane receptor binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3) 176 BRCA - Breast invasive adenocarcinoma(221;0.248) GGCTCTCAGTGAGTTTCCAGT 0.557000 6 81 0 0 1 0 0 WAS 7454 broad.mit.edu 37 X 48544018 48544018 + Missense_Mutation SNP G G C TCGA-CQ-7069-01A-11D-2394-08 TCGA-CQ-7069-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33d8d1bd-6131-4d2b-8b70-89be0ef1dee9 86ad483e-92e1-4e14-ada6-d41574713c7a g.chrX:48544018G>C ENST00000376701.4 + 3 431 c.356G>C c.(355-357)gGa>gCa p.G119A WAS_ENST00000483750.1_3'UTR NM_000377.2 NP_000368.1 P42768 WASP_HUMAN Wiskott-Aldrich syndrome 119 WH1. blood coagulation|defense response|epidermis development|immune response|T cell receptor signaling pathway actin cytoskeleton|cytosol identical protein binding|small GTPase regulator activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(4)|skin(1)|upper_aerodigestive_tract(1) 28 all_lung(315;1.27e-10) ACCTTCGCTGGAGATGTAAGT 0.607000 """Mis, N, F, S""" lymphoma 5 18 0 0 1 0 0 RAB6C-AS1 100131320 broad.mit.edu 37 2 130725787 130725787 + RNA SNP G G A TCGA-CQ-7069-01A-11D-2394-08 TCGA-CQ-7069-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33d8d1bd-6131-4d2b-8b70-89be0ef1dee9 86ad483e-92e1-4e14-ada6-d41574713c7a g.chr2:130725787G>A ENST00000412425.1 - 0 831 NR_036537.1 ACACAAAAAAGATGAGGATGA 0.428000 3 18 0 0 1 0 0 CABIN1 23523 broad.mit.edu 37 22 24468356 24468356 + Missense_Mutation SNP C C G TCGA-CQ-7069-01A-11D-2394-08 TCGA-CQ-7069-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33d8d1bd-6131-4d2b-8b70-89be0ef1dee9 86ad483e-92e1-4e14-ada6-d41574713c7a g.chr22:24468356C>G ENST00000398319.2 + 18 2913 c.2528C>G c.(2527-2529)tCt>tGt p.S843C CABIN1_ENST00000405822.2_Missense_Mutation_p.S793C|CABIN1_ENST00000263119.5_Missense_Mutation_p.S843C NM_001199281.1 NP_001186210.1 Q9Y6J0 CABIN_HUMAN calcineurin binding protein 1 843 cell surface receptor linked signaling pathway|chromatin modification nucleus protein phosphatase inhibitor activity breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 CCCCACGTCTCTTCAGTGCTA 0.582000 22 64 0 0 1 0 0 SCAND3 114821 broad.mit.edu 37 6 28554443 28554443 + Missense_Mutation SNP C C T TCGA-CQ-7069-01A-11D-2394-08 TCGA-CQ-7069-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33d8d1bd-6131-4d2b-8b70-89be0ef1dee9 86ad483e-92e1-4e14-ada6-d41574713c7a g.chr6:28554443C>T ENST00000452236.2 - 1 669 c.52G>A c.(52-54)Gaa>Aaa p.E18K SCAND3_ENST00000530247.1_Intron NM_052923.1 NP_443155.1 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 18 DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3) 71 TCCCCTTGTTCTTCTGGAGCC 0.502000 10 56 0 0 1 0 0 NOTCH3 4854 broad.mit.edu 37 19 15291056 15291056 + Missense_Mutation SNP C C G TCGA-CQ-7069-01A-11D-2394-08 TCGA-CQ-7069-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33d8d1bd-6131-4d2b-8b70-89be0ef1dee9 86ad483e-92e1-4e14-ada6-d41574713c7a g.chr19:15291056C>G ENST00000263388.2 - 20 3229 c.3154G>C c.(3154-3156)Gag>Cag p.E1052Q NM_000435.2 NP_000426.2 Q9UM47 NOTC3_HUMAN notch 3 1052 EGF-like 27. Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 93 OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15) CACAGCTGCTCCAGCCGCACC 0.587000 10 41 0 0 1 0 0 IL12RB2 3595 broad.mit.edu 37 1 67786090 67786090 + Missense_Mutation SNP G G T TCGA-CQ-7069-01A-11D-2394-08 TCGA-CQ-7069-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33d8d1bd-6131-4d2b-8b70-89be0ef1dee9 86ad483e-92e1-4e14-ada6-d41574713c7a g.chr1:67786090G>T ENST00000262345.1 + 2 679 c.39G>T c.(37-39)atG>atT p.M13I IL12RB2_ENST00000544434.1_Missense_Mutation_p.M13I|IL12RB2_ENST00000371000.1_Missense_Mutation_p.M13I|IL12RB2_ENST00000541374.1_Missense_Mutation_p.M13I NM_001559.2 NP_001550.1 Q99665 I12R2_HUMAN interleukin 12 receptor, beta 2 13 M -> V (in dbSNP:rs17129772). positive regulation of cell proliferation|positive regulation of interferon-gamma production integral to plasma membrane cytokine receptor activity breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 45 TGGCATTTATGTTTATAATCA 0.338000 10 60 0.000673444 0.000683648 1 1 0 ELK1 2002 broad.mit.edu 37 X 47498684 47498684 + Nonsense_Mutation SNP G G T TCGA-CQ-7069-01A-11D-2394-08 TCGA-CQ-7069-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33d8d1bd-6131-4d2b-8b70-89be0ef1dee9 86ad483e-92e1-4e14-ada6-d41574713c7a g.chrX:47498684G>T ENST00000247161.3 - 3 363 c.264C>A c.(262-264)taC>taA p.Y88* ELK1_ENST00000376983.3_Nonsense_Mutation_p.Y88*|ELK1_ENST00000343894.4_Nonsense_Mutation_p.Y88*|ELK1_ENST00000592066.1_Nonsense_Mutation_p.Y34* NM_005229.4 NP_005220.2 P19419 ELK1_HUMAN ELK1, member of ETS oncogene family 88 innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2) 10 CGACCTCAGGGTAGGACACAA 0.587000 8 27 0.00448238 0.00448238 1 1 0 MAN1C1 57134 broad.mit.edu 37 1 26104778 26104778 + Silent SNP G G A TCGA-CQ-7069-01A-11D-2394-08 TCGA-CQ-7069-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33d8d1bd-6131-4d2b-8b70-89be0ef1dee9 86ad483e-92e1-4e14-ada6-d41574713c7a g.chr1:26104778G>A ENST00000374332.4 + 9 1770 c.1440G>A c.(1438-1440)caG>caA p.Q480Q MAN1C1_ENST00000263979.3_Silent_p.Q300Q|MAN1C1_ENST00000374329.1_Silent_p.Q251Q NM_020379.2 NP_065112.1 Q9NR34 MA1C1_HUMAN mannosidase, alpha, class 1C, member 1 480 post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2) 25 Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232) UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803) TCGCAGCCCAGATCACCAAGA 0.607000 26 65 0 0 1 0 0 AACS 65985 broad.mit.edu 37 12 125561121 125561121 + Missense_Mutation SNP C C T TCGA-CQ-7069-01A-11D-2394-08 TCGA-CQ-7069-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33d8d1bd-6131-4d2b-8b70-89be0ef1dee9 86ad483e-92e1-4e14-ada6-d41574713c7a g.chr12:125561121C>T ENST00000316519.6 + 3 528 c.322C>T c.(322-324)Cac>Tac p.H108Y AACS_ENST00000261686.6_Missense_Mutation_p.H108Y NM_023928.3 NP_076417.2 Q86V21 AACS_HUMAN acetoacetyl-CoA synthetase 108 fatty acid metabolic process cytosol acetoacetate-CoA ligase activity|ATP binding breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1) 26 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843) CCTCCTGCGGCACAAAGAGAA 0.498000 29 60 0 0 1 0 0 STK33 65975 broad.mit.edu 37 11 8494819 8494819 + Nonsense_Mutation SNP G G C TCGA-CQ-7069-01A-11D-2394-08 TCGA-CQ-7069-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33d8d1bd-6131-4d2b-8b70-89be0ef1dee9 86ad483e-92e1-4e14-ada6-d41574713c7a g.chr11:8494819G>C ENST00000447869.1 - 2 1148 c.230C>G c.(229-231)tCa>tGa p.S77* STK33_ENST00000396673.1_Nonsense_Mutation_p.S77*|STK33_ENST00000315204.1_Nonsense_Mutation_p.S77*|STK33_ENST00000534493.1_Nonsense_Mutation_p.S36*|STK33_ENST00000358872.3_Intron|STK33_ENST00000396672.1_Nonsense_Mutation_p.S77* Q9BYT3 STK33_HUMAN serine/threonine kinase 33 77 Golgi apparatus|nucleus|perinuclear region of cytoplasm ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3) 23 Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239) TGAGGTTCTTGAGGGCTGGGA 0.338000 23 54 0 0 1 0 0 WDR33 55339 broad.mit.edu 37 2 128482013 128482013 + Missense_Mutation SNP C C G TCGA-CQ-7069-01A-11D-2394-08 TCGA-CQ-7069-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33d8d1bd-6131-4d2b-8b70-89be0ef1dee9 86ad483e-92e1-4e14-ada6-d41574713c7a g.chr2:128482013C>G ENST00000322313.4 - 11 1248 c.1090G>C c.(1090-1092)Gag>Cag p.E364Q NM_018383.4 NP_060853.3 Q9C0J8 WDR33_HUMAN WD repeat domain 33 364 postreplication repair|spermatogenesis collagen|nucleus protein binding NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0695) ACTTCCTTCTCTACCCTGCAA 0.468000 15 70 0 0 1 0 0 SMC6 79677 broad.mit.edu 37 2 17912391 17912391 + Missense_Mutation SNP G G A TCGA-CQ-7069-01A-11D-2394-08 TCGA-CQ-7069-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33d8d1bd-6131-4d2b-8b70-89be0ef1dee9 86ad483e-92e1-4e14-ada6-d41574713c7a g.chr2:17912391G>A ENST00000448223.2 - 7 766 c.497C>T c.(496-498)aCg>aTg p.T166M SMC6_ENST00000381272.4_Missense_Mutation_p.T192M|SMC6_ENST00000402989.1_Missense_Mutation_p.T166M|SMC6_ENST00000351948.4_Missense_Mutation_p.T166M NM_001142286.1 NP_001135758.1 Q96SB8 SMC6_HUMAN structural maintenance of chromosomes 6 166 DNA recombination|DNA repair chromosome|nucleus ATP binding NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 43 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) TTCTTTCCTCGTGGAAACCAC 0.313000 5 65 0 0 1 0 0 UHRF1BP1L 23074 broad.mit.edu 37 12 100452246 100452246 + Missense_Mutation SNP C C G TCGA-CQ-7069-01A-11D-2394-08 TCGA-CQ-7069-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33d8d1bd-6131-4d2b-8b70-89be0ef1dee9 86ad483e-92e1-4e14-ada6-d41574713c7a g.chr12:100452246C>G ENST00000279907.7 - 14 3021 c.2809G>C c.(2809-2811)Gac>Cac p.D937H UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.D587H NM_015054.1 NP_055869.1 A0JNW5 UH1BL_HUMAN UHRF1 binding protein 1-like 937 breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 50 TGGCTAAGGTCAACACTCATA 0.303000 4 45 0 0 1 0 0 AFF1 4299 broad.mit.edu 37 4 88016103 88016103 + Missense_Mutation SNP C C G TCGA-CQ-7069-01A-11D-2394-08 TCGA-CQ-7069-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33d8d1bd-6131-4d2b-8b70-89be0ef1dee9 86ad483e-92e1-4e14-ada6-d41574713c7a g.chr4:88016103C>G ENST00000307808.6 + 7 1664 c.1244C>G c.(1243-1245)tCt>tGt p.S415C AFF1_ENST00000544085.1_Missense_Mutation_p.S53C|AFF1_ENST00000395146.4_Missense_Mutation_p.S422C NM_005935.2 NP_005926.1 P51825 AFF1_HUMAN AF4/FMR2 family, member 1 415 nucleus sequence-specific DNA binding transcription factor activity breast(1)|large_intestine(2) 3 Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000233) CACTCAAATTCTCAGCAAGGA 0.338000 14 29 0 0 1 0 0 PRDM8 56978 broad.mit.edu 37 4 81123447 81123447 + Silent SNP C C T TCGA-CQ-7069-01A-11D-2394-08 TCGA-CQ-7069-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33d8d1bd-6131-4d2b-8b70-89be0ef1dee9 86ad483e-92e1-4e14-ada6-d41574713c7a g.chr4:81123447C>T ENST00000339711.4 + 10 2062 c.831C>T c.(829-831)tgC>tgT p.C277C PRDM8_ENST00000415738.2_Silent_p.C277C|PRDM8_ENST00000504452.1_Silent_p.C277C NM_020226.3 NP_064611.3 Q9NQV8 PRDM8_HUMAN PR domain containing 8 277 Gly-rich.|Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2) 10 GCAGCAGCTGCTCCCCAGCCC 0.731000 OREG0016246 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 16 34 0 0 1 0 0 GAS8 2622 broad.mit.edu 37 16 90103716 90103716 + Missense_Mutation SNP G G A rs117053233 byFrequency TCGA-CQ-7069-01A-11D-2394-08 TCGA-CQ-7069-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33d8d1bd-6131-4d2b-8b70-89be0ef1dee9 86ad483e-92e1-4e14-ada6-d41574713c7a g.chr16:90103716G>A ENST00000268699.4 + 7 955 c.833G>A c.(832-834)cGc>cAc p.R278H GAS8_ENST00000536122.1_Missense_Mutation_p.R253H|GAS8_ENST00000540721.1_3'UTR NM_001481.2 NP_001472.1 O95995 GAS8_HUMAN growth arrest-specific 8 278 negative regulation of cell proliferation|sperm motility cilium|Golgi apparatus|microtubule|microtubule basal body|microtubule-based flagellum protein binding p.R278L(1)|p.R278H(1) endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 14 all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.029) CAGAACAAGCGCCTGGCAGAC 0.592000 3 29 0 0 1 0 0 BLM 641 broad.mit.edu 37 15 91306333 91306333 + Missense_Mutation SNP G G C TCGA-CQ-7069-01A-11D-2394-08 TCGA-CQ-7069-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33d8d1bd-6131-4d2b-8b70-89be0ef1dee9 86ad483e-92e1-4e14-ada6-d41574713c7a g.chr15:91306333G>C ENST00000355112.3 + 8 2138 c.2020G>C c.(2020-2022)Gag>Cag p.E674Q BLM_ENST00000560509.1_Missense_Mutation_p.E674Q|BLM_ENST00000560136.1_3'UTR NM_000057.2 NP_000048.1 P54132 BLM_HUMAN Bloom syndrome, RecQ helicase-like 674 double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray cytoplasm|lateral element|nuclear matrix|nucleolus|PML body ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(78;0.0875)|all_lung(78;0.109) Lung(145;0.189) TAATCAGCTAGAGGCGATCAA 0.378000 """Mis, N, F""" """leukemia, lymphoma, skin squamous cell , other cancers""" Genes defective in diseases associated with sensitivity to DNA damaging agents Bloom syndrome 31 94 0 0 1 0 0 RPL10A 4736 broad.mit.edu 37 6 35438014 35438014 + Missense_Mutation SNP C C G TCGA-CQ-7069-01A-11D-2394-08 TCGA-CQ-7069-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33d8d1bd-6131-4d2b-8b70-89be0ef1dee9 86ad483e-92e1-4e14-ada6-d41574713c7a g.chr6:35438014C>G ENST00000322203.6 + 5 396 c.369C>G c.(367-369)atC>atG p.I123M RPL10A_ENST00000467020.1_3'UTR NM_007104.4 NP_009035.3 P62906 RL10A_HUMAN ribosomal protein L10a 123 anatomical structure morphogenesis|endocrine pancreas development|translational elongation|translational termination|viral transcription cytosol|large ribosomal subunit RNA binding|structural constituent of ribosome breast(1)|large_intestine(2)|ovary(1) 4 TTCCACGAATCCTCGGCCCAG 0.478000 7 54 0 0 1 0 0 FBXL13 222235 broad.mit.edu 37 7 102572360 102572360 + Missense_Mutation SNP C C G TCGA-CQ-7069-01A-11D-2394-08 TCGA-CQ-7069-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33d8d1bd-6131-4d2b-8b70-89be0ef1dee9 86ad483e-92e1-4e14-ada6-d41574713c7a g.chr7:102572360C>G ENST00000393772.2 - 9 1171 c.745G>C c.(745-747)Gag>Cag p.E249Q LRRC17_ENST00000339431.4_Intron|FBXL13_ENST00000456695.1_Missense_Mutation_p.E249Q|LRRC17_ENST00000249377.4_Intron|FBXL13_ENST00000455112.2_Missense_Mutation_p.E249Q|FBXL13_ENST00000436908.1_Missense_Mutation_p.E249Q|FBXL13_ENST00000379305.3_Missense_Mutation_p.E249Q|FBXL13_ENST00000379306.3_Missense_Mutation_p.E249Q|FBXL13_ENST00000379308.3_Missense_Mutation_p.E249Q|FBXL13_ENST00000313221.4_Missense_Mutation_p.E249Q Q8NEE6 FXL13_HUMAN F-box and leucine-rich repeat protein 13 249 NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1) 27 ACATTCAACTCTTGCAAGTTC 0.353000 14 48 0 0 1 0 0 ALG12 79087 broad.mit.edu 37 22 50301453 50301453 + Missense_Mutation SNP G G A TCGA-CQ-7069-01A-11D-2394-08 TCGA-CQ-7069-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33d8d1bd-6131-4d2b-8b70-89be0ef1dee9 86ad483e-92e1-4e14-ada6-d41574713c7a g.chr22:50301453G>A ENST00000330817.5 - 7 1181 c.908C>T c.(907-909)tCc>tTc p.S303F NM_024105.3 NP_077010.1 Q9BV10 ALG12_HUMAN ALG12, alpha-1,6-mannosyltransferase 303 dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine integral to membrane|intrinsic to endoplasmic reticulum membrane endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3) 12 all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164) BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247) TGGCAGGAGGGAGTAGAGTGC 0.607000 23 85 0 0 1 0 0 ADCK5 203054 broad.mit.edu 37 8 145617301 145617301 + Missense_Mutation SNP G G A TCGA-CQ-7069-01A-11D-2394-08 TCGA-CQ-7069-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33d8d1bd-6131-4d2b-8b70-89be0ef1dee9 86ad483e-92e1-4e14-ada6-d41574713c7a g.chr8:145617301G>A ENST00000308860.6 + 11 1150 c.1106G>A c.(1105-1107)cGg>cAg p.R369Q NM_174922.3 NP_777582.3 Q3MIX3 ADCK5_HUMAN aarF domain containing kinase 5 369 Protein kinase. integral to membrane protein serine/threonine kinase activity endometrium(1)|lung(2)|prostate(2)|skin(1)|stomach(2) 8 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055) GTTCTGGTGCGGAAAGGCCCG 0.662000 7 35 0 0 1 0 0 ALDH5A1 7915 broad.mit.edu 37 6 24505178 24505178 + Missense_Mutation SNP G G A TCGA-CQ-7069-01A-11D-2394-08 TCGA-CQ-7069-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33d8d1bd-6131-4d2b-8b70-89be0ef1dee9 86ad483e-92e1-4e14-ada6-d41574713c7a g.chr6:24505178G>A ENST00000357578.3 + 4 836 c.691G>A c.(691-693)Gaa>Aaa p.E231K ALDH5A1_ENST00000491546.1_Missense_Mutation_p.E203K|ALDH5A1_ENST00000546278.1_Missense_Mutation_p.E143K|ALDH5A1_ENST00000348925.2_Missense_Mutation_p.E231K NM_001080.3 NP_001071.1 P51649 SSDH_HUMAN aldehyde dehydrogenase 5 family, member A1 231 acetate metabolic process|central nervous system development|galactosylceramide metabolic process|gamma-aminobutyric acid catabolic process|glucose metabolic process|glutamate metabolic process|glutamine metabolic process|glutathione metabolic process|glycerophospholipid metabolic process|neurotransmitter catabolic process|neurotransmitter secretion|protein homotetramerization|respiratory electron transport chain|short-chain fatty acid metabolic process|succinate metabolic process mitochondrial matrix|soluble fraction succinate-semialdehyde dehydrogenase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|skin(2)|urinary_tract(1) 20 Chlormerodrin(DB00534)|NADH(DB00157)|Succinic acid(DB00139) GAAGCCTGCCGAAGACACGCC 0.577000 38 109 0 0 1 0 0 BCAP31 10134 broad.mit.edu 37 X 152988622 152988622 + Silent SNP G G A TCGA-CQ-7069-01A-11D-2394-08 TCGA-CQ-7069-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33d8d1bd-6131-4d2b-8b70-89be0ef1dee9 86ad483e-92e1-4e14-ada6-d41574713c7a g.chrX:152988622G>A ENST00000458587.2 - 2 708 c.279C>T c.(277-279)ttC>ttT p.F93F BCAP31_ENST00000441714.1_Silent_p.F26F|BCAP31_ENST00000345046.6_Silent_p.F26F NM_001139441.1|NM_001139457.2 NP_001132913.1|NP_001132929.1 P51572 BAP31_HUMAN B-cell receptor-associated protein 31 26 cellular component disassembly involved in apoptosis|immune response|intracellular protein transport|vesicle-mediated transport cytosol|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|integral to plasma membrane receptor binding endometrium(2)|large_intestine(2)|lung(2)|prostate(1) 7 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) TAGGAGAAATGAAGGGAATGC 0.552000 11 37 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152277137 152277137 + Nonsense_Mutation SNP G G A TCGA-CQ-7069-01A-11D-2394-08 TCGA-CQ-7069-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33d8d1bd-6131-4d2b-8b70-89be0ef1dee9 86ad483e-92e1-4e14-ada6-d41574713c7a g.chr1:152277137G>A ENST00000368799.1 - 3 10260 c.10225C>T c.(10225-10227)Cga>Tga p.R3409* FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 3409 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) CCTTGTCTTCGTCCAGTGCTG 0.607000 Ichthyosis 132 352 0 0 1 0 0 COL12A1 1303 broad.mit.edu 37 6 75892796 75892796 + Missense_Mutation SNP C C G TCGA-CQ-7069-01A-11D-2394-08 TCGA-CQ-7069-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33d8d1bd-6131-4d2b-8b70-89be0ef1dee9 86ad483e-92e1-4e14-ada6-d41574713c7a g.chr6:75892796C>G ENST00000322507.8 - 10 2170 c.1861G>C c.(1861-1863)Gag>Cag p.E621Q COL12A1_ENST00000416123.2_Missense_Mutation_p.E621Q|COL12A1_ENST00000483888.2_Missense_Mutation_p.E621Q|COL12A1_ENST00000345356.6_Intron NM_004370.5 NP_004361.3 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 621 cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 169 AATTCTTGCTCAATTCTAAGG 0.368000 18 50 0 0 1 0 0 C6orf118 168090 broad.mit.edu 37 6 165715172 165715172 + Silent SNP G G A TCGA-CQ-7069-01A-11D-2394-08 TCGA-CQ-7069-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33d8d1bd-6131-4d2b-8b70-89be0ef1dee9 86ad483e-92e1-4e14-ada6-d41574713c7a g.chr6:165715172G>A ENST00000543069.1 - 2 908 c.327C>T c.(325-327)gaC>gaT p.D109D C6orf118_ENST00000230301.8_Silent_p.D213D Q5T5N4 CF118_HUMAN chromosome 6 open reading frame 118 213 breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 40 Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157) OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313) TCCTGTACCTGTCTGCGCTGG 0.617000 25 95 0 0 1 0 0 YIPF3 25844 broad.mit.edu 37 6 43481347 43481347 + Missense_Mutation SNP G G C TCGA-CQ-7069-01A-11D-2394-08 TCGA-CQ-7069-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33d8d1bd-6131-4d2b-8b70-89be0ef1dee9 86ad483e-92e1-4e14-ada6-d41574713c7a g.chr6:43481347G>C ENST00000372422.2 - 4 602 c.420C>G c.(418-420)atC>atG p.I140M YIPF3_ENST00000506469.1_Missense_Mutation_p.I146M NM_015388.3 NP_056203.2 Q9GZM5 YIPF3_HUMAN Yip1 domain family, member 3 140 cell differentiation integral to membrane|plasma membrane|transport vesicle large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1) 9 all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536) Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00736)|OV - Ovarian serous cystadenocarcinoma(102;0.0711) TGACCATCTTGATAGGGATCA 0.562000 15 54 0 0 1 0 0 GPI 2821 broad.mit.edu 37 19 34856261 34856261 + Silent SNP C C T TCGA-CQ-7069-01A-11D-2394-08 TCGA-CQ-7069-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33d8d1bd-6131-4d2b-8b70-89be0ef1dee9 86ad483e-92e1-4e14-ada6-d41574713c7a g.chr19:34856261C>T ENST00000415930.3 + 2 377 c.207C>T c.(205-207)ttC>ttT p.F69F GPI_ENST00000356487.5_Silent_p.F30F|GPI_ENST00000586425.1_Silent_p.F30F NM_001184722.1 NP_001171651.1 P06744 G6PI_HUMAN glucose-6-phosphate isomerase 30 angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response cytosol|extracellular space|nucleus|plasma membrane cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 25 Esophageal squamous(110;0.162) GCCGCCTCTTCGATGCCAACA 0.716000 3 28 0 0 1 0 0 ZCCHC14 23174 broad.mit.edu 37 16 87445945 87445945 + Silent SNP A A G TCGA-CQ-7069-01A-11D-2394-08 TCGA-CQ-7069-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33d8d1bd-6131-4d2b-8b70-89be0ef1dee9 86ad483e-92e1-4e14-ada6-d41574713c7a g.chr16:87445945A>G ENST00000268616.4 - 12 2188 c.1971T>C c.(1969-1971)tgT>tgC p.C657C NM_015144.2 NP_055959.1 Q8WYQ9 ZCH14_HUMAN zinc finger, CCHC domain containing 14 657 cell communication nucleic acid binding|phosphatidylinositol binding|zinc ion binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 36 BRCA - Breast invasive adenocarcinoma(80;0.0285) CATTATTAGGACAGGAAGTTT 0.527000 33 153 0 0 1 0 0 SH2D3C 10044 broad.mit.edu 37 9 130501101 130501101 + Missense_Mutation SNP C C T TCGA-CQ-7069-01A-11D-2394-08 TCGA-CQ-7069-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33d8d1bd-6131-4d2b-8b70-89be0ef1dee9 86ad483e-92e1-4e14-ada6-d41574713c7a g.chr9:130501101C>T ENST00000314830.8 - 12 2620 c.2507G>A c.(2506-2508)cGc>cAc p.R836H SH2D3C_ENST00000429553.1_Missense_Mutation_p.R482H|SH2D3C_ENST00000373277.4_Missense_Mutation_p.R679H|SH2D3C_ENST00000420366.1_Missense_Mutation_p.R678H|SH2D3C_ENST00000373276.3_Missense_Mutation_p.R768H|SH2D3C_ENST00000373274.3_Missense_Mutation_p.R676H NM_170600.2 NP_733745.1 Q8N5H7 SH2D3_HUMAN SH2 domain containing 3C 836 Ras-GEF. JNK cascade|small GTPase mediated signal transduction cytoplasm|membrane guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 CTTCTCATAGCGCCGGGCCTG 0.647000 4 9 0 0 1 0 0 ATR 545 broad.mit.edu 37 3 142268991 142268991 + Missense_Mutation SNP G G T TCGA-CQ-7069-01A-11D-2394-08 TCGA-CQ-7069-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33d8d1bd-6131-4d2b-8b70-89be0ef1dee9 86ad483e-92e1-4e14-ada6-d41574713c7a g.chr3:142268991G>T ENST00000350721.4 - 14 3080 c.2959C>A c.(2959-2961)Ctt>Att p.L987I ATR_ENST00000383101.3_Missense_Mutation_p.L923I NM_001184.3 NP_001175.2 Q13535 ATR_HUMAN ataxia telangiectasia and Rad3 related 987 cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence PML body ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4) 122 AAACGATTAAGATCAGGAAAG 0.368000 Other conserved DNA damage response genes 11 52 6.40141e-05 6.54801e-05 1 1 0 FHL2 2274 broad.mit.edu 37 2 105979872 105979872 + Missense_Mutation SNP G G A TCGA-CQ-7069-01A-11D-2394-08 TCGA-CQ-7069-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33d8d1bd-6131-4d2b-8b70-89be0ef1dee9 86ad483e-92e1-4e14-ada6-d41574713c7a g.chr2:105979872G>A ENST00000336660.5 - 4 503 c.383C>T c.(382-384)tCg>tTg p.S128L FHL2_ENST00000393352.3_Silent_p.F186F|FHL2_ENST00000409177.1_Silent_p.F302F|FHL2_ENST00000409807.1_Silent_p.F186F|AC012360.6_ENST00000457290.2_RNA|FHL2_ENST00000408995.1_Silent_p.F186F|FHL2_ENST00000358129.4_Silent_p.F186F|FHL2_ENST00000322142.8_Silent_p.F186F|FHL2_ENST00000393353.3_Silent_p.F186F|FHL2_ENST00000344213.4_Silent_p.F296F Q14192 FHL2_HUMAN four and a half LIM domains 2 0 LIM zinc-binding 2. androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription, DNA-dependent|response to hormone stimulus|transcription, DNA-dependent actin cytoskeleton|focal adhesion|nucleus androgen receptor binding|identical protein binding|transcription coactivator activity|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1) 9 CGGTGCACACGAAGCACTCCT 0.607000 4 31 0 0 1 0 0 FSIP1 161835 broad.mit.edu 37 15 40005666 40005666 + Silent SNP C C T TCGA-CQ-7069-01A-11D-2394-08 TCGA-CQ-7069-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33d8d1bd-6131-4d2b-8b70-89be0ef1dee9 86ad483e-92e1-4e14-ada6-d41574713c7a g.chr15:40005666C>T ENST00000350221.3 - 10 1376 c.1167G>A c.(1165-1167)ctG>ctA p.L389L NM_152597.4 NP_689810.3 Q8NA03 FSIP1_HUMAN fibrous sheath interacting protein 1 389 NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1) 23 all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119) GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142) TCATCATTTTCAGCTTTTCAT 0.368000 24 114 0 0 1 0 0 RYR1 6261 broad.mit.edu 37 19 38943578 38943578 + Missense_Mutation SNP C C G TCGA-CQ-7069-01A-11D-2394-08 TCGA-CQ-7069-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33d8d1bd-6131-4d2b-8b70-89be0ef1dee9 86ad483e-92e1-4e14-ada6-d41574713c7a g.chr19:38943578C>G ENST00000355481.4 + 13 1495 c.1364C>G c.(1363-1365)tCc>tGc p.S455C RYR1_ENST00000360985.3_Missense_Mutation_p.S455C|RYR1_ENST00000359596.3_Missense_Mutation_p.S455C NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 455 muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) GAGCCTCCCTCCGAGGACTTG 0.672000 9 27 0 0 1 0 0 MAML1 9794 broad.mit.edu 37 5 179193111 179193111 + Nonsense_Mutation SNP C C G TCGA-CQ-7069-01A-11D-2394-08 TCGA-CQ-7069-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33d8d1bd-6131-4d2b-8b70-89be0ef1dee9 86ad483e-92e1-4e14-ada6-d41574713c7a g.chr5:179193111C>G ENST00000292599.3 + 2 1363 c.1100C>G c.(1099-1101)tCa>tGa p.S367* MAML1_ENST00000503050.1_3'UTR NM_014757.4 NP_055572.1 Q92585 MAML1_HUMAN mastermind-like 1 (Drosophila) 367 Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck peptide antigen binding|protein kinase binding|transcription coactivator activity central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 36 all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218) all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) ATGCCGGCATCAGCCCAGGCC 0.627000 16 57 0 0 1 0 0 NFAT5 10725 broad.mit.edu 37 16 69711219 69711219 + Silent SNP C C T TCGA-CQ-7069-01A-11D-2394-08 TCGA-CQ-7069-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33d8d1bd-6131-4d2b-8b70-89be0ef1dee9 86ad483e-92e1-4e14-ada6-d41574713c7a g.chr16:69711219C>T ENST00000349945.1 + 11 2941 c.1389C>T c.(1387-1389)ttC>ttT p.F463F NFAT5_ENST00000567239.1_Silent_p.F557F|NFAT5_ENST00000566899.1_Silent_p.F463F|NFAT5_ENST00000393742.2_Silent_p.F463F|NFAT5_ENST00000354436.2_Silent_p.F539F|NFAT5_ENST00000432919.1_Silent_p.F557F NM_138714.3 NP_619728.2 O94916 NFAT5_HUMAN nuclear factor of activated T-cells 5, tonicity-responsive 539 excretion|signal transduction|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 TTCAACCATTCACTTACACTC 0.353000 8 67 0 0 1 0 0 AP1G1 164 broad.mit.edu 37 16 71789968 71789968 + Missense_Mutation SNP C C G TCGA-CQ-7069-01A-11D-2394-08 TCGA-CQ-7069-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33d8d1bd-6131-4d2b-8b70-89be0ef1dee9 86ad483e-92e1-4e14-ada6-d41574713c7a g.chr16:71789968C>G ENST00000299980.4 - 12 1624 c.1183G>C c.(1183-1185)Gaa>Caa p.E395Q AP1G1_ENST00000393512.3_Missense_Mutation_p.E398Q|AP1G1_ENST00000569748.1_Missense_Mutation_p.E395Q|AP1G1_ENST00000423132.2_Missense_Mutation_p.E398Q|AP1G1_ENST00000433195.2_Missense_Mutation_p.E418Q NM_001128.5 NP_001119.3 O43747 AP1G1_HUMAN adaptor-related protein complex 1, gamma 1 subunit 395 endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome kinesin binding|protein transporter activity breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1) 28 Ovarian(137;0.125) GCTTTAAATTCTGGCTCACAC 0.373000 15 115 0 0 1 0 0 KIF14 9928 broad.mit.edu 37 1 200550364 200550364 + Missense_Mutation SNP G G C TCGA-CQ-7069-01A-11D-2394-08 TCGA-CQ-7069-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33d8d1bd-6131-4d2b-8b70-89be0ef1dee9 86ad483e-92e1-4e14-ada6-d41574713c7a g.chr1:200550364G>C ENST00000367350.4 - 20 3738 c.3300C>G c.(3298-3300)atC>atG p.I1100M NM_014875.2 NP_055690.1 Q15058 KIF14_HUMAN kinesin family member 14 1100 Required for CIT-binding. microtubule-based movement cytoplasm|microtubule|nucleus|spindle ATP binding|microtubule motor activity|protein binding NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1) 61 ATTTGCTGCTGATAGCATTGG 0.328000 17 56 0 0 1 0 0 DUSP23 54935 broad.mit.edu 37 1 159752122 159752122 + Silent SNP G G A TCGA-CQ-7069-01A-11D-2394-08 TCGA-CQ-7069-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33d8d1bd-6131-4d2b-8b70-89be0ef1dee9 86ad483e-92e1-4e14-ada6-d41574713c7a g.chr1:159752122G>A ENST00000368107.1 + 2 545 c.447G>A c.(445-447)acG>acA p.T149T DUSP23_ENST00000368109.1_Silent_p.T149T|DUSP23_ENST00000368108.3_Silent_p.T149T Q9BVJ7 DUS23_HUMAN dual specificity phosphatase 23 149 cytosol|nucleus protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity lung(1) 1 all_hematologic(112;0.0537) ACCAGCGAACGAAATAAGGGG 0.532000 17 46 0 0 1 0 0 EPHA2 1969 broad.mit.edu 37 1 16475112 16475112 + Missense_Mutation SNP C C T TCGA-CQ-7069-01A-11D-2394-08 TCGA-CQ-7069-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33d8d1bd-6131-4d2b-8b70-89be0ef1dee9 86ad483e-92e1-4e14-ada6-d41574713c7a g.chr1:16475112C>T ENST00000358432.5 - 3 738 c.584G>A c.(583-585)cGt>cAt p.R195H EPHA2_ENST00000461614.1_5'UTR NM_004431.3 NP_004422.2 P29317 EPHA2_HUMAN EPH receptor A2 195 Cys-rich. activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane ATP binding|ephrin receptor activity|protein binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 42 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649) Dasatinib(DB01254) GTAGTAGACACGGACGGAGAG 0.652000 11 135 0 0 1 0 0 ROS1 6098 broad.mit.edu 37 6 117678014 117678014 + Missense_Mutation SNP G G C TCGA-CQ-7069-01A-11D-2394-08 TCGA-CQ-7069-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33d8d1bd-6131-4d2b-8b70-89be0ef1dee9 86ad483e-92e1-4e14-ada6-d41574713c7a g.chr6:117678014G>C ENST00000368508.3 - 25 4117 c.3919C>G c.(3919-3921)Cac>Gac p.H1307D GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.H1302D NM_002944.2 NP_002935.2 P08922 ROS_HUMAN c-ros oncogene 1 , receptor tyrosine kinase 1307 transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7) NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 162 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) TGCAAGGTGTGACTGATAATA 0.388000 T """GOPC, SDC4, SLC34A2, EZR, LRIG3""" """glioblastoma, NSCLC""" 13 61 0 0 1 0 0 VWA7 80737 broad.mit.edu 37 6 31734437 31734437 + Missense_Mutation SNP C C G TCGA-CQ-7069-01A-11D-2394-08 TCGA-CQ-7069-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33d8d1bd-6131-4d2b-8b70-89be0ef1dee9 86ad483e-92e1-4e14-ada6-d41574713c7a g.chr6:31734437C>G ENST00000375686.3 - 14 2224 c.1987G>C c.(1987-1989)Gag>Cag p.E663Q VWA7_ENST00000467576.1_5'UTR|VWA7_ENST00000447450.1_Missense_Mutation_p.R656T|VWA7_ENST00000375688.4_Missense_Mutation_p.E663Q NM_025258.2 NP_079534.2 Q9Y334 G7C_HUMAN von Willebrand factor A domain containing 7 663 extracellular region TCGGCACCCTCTGGGACCCCT 0.647000 15 83 0 0 1 0 0 KLHL2 11275 broad.mit.edu 37 4 166159977 166159977 + Missense_Mutation SNP G G A TCGA-CQ-7069-01A-11D-2394-08 TCGA-CQ-7069-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33d8d1bd-6131-4d2b-8b70-89be0ef1dee9 86ad483e-92e1-4e14-ada6-d41574713c7a g.chr4:166159977G>A ENST00000226725.6 + 4 566 c.307G>A c.(307-309)Gat>Aat p.D103N KLHL2_ENST00000514860.1_Missense_Mutation_p.D107N|KLHL2_ENST00000538127.1_Missense_Mutation_p.D15N|KLHL2_ENST00000421009.2_Intron NM_007246.3 NP_009177.3 O95198 KLHL2_HUMAN kelch-like family member 2 103 BTB. intracellular protein transport actin cytoskeleton|cytoplasm actin binding|transporter activity endometrium(3)|large_intestine(5)|lung(4)|prostate(1)|urinary_tract(1) 14 all_hematologic(180;0.221) GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927) AAAAGAGGTAGATGGCTGGAC 0.403000 13 75 0 0 1 0 0 AQR 9716 broad.mit.edu 37 15 35192847 35192847 + Missense_Mutation SNP G G C TCGA-CQ-7069-01A-11D-2394-08 TCGA-CQ-7069-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33d8d1bd-6131-4d2b-8b70-89be0ef1dee9 86ad483e-92e1-4e14-ada6-d41574713c7a g.chr15:35192847G>C ENST00000156471.5 - 20 2444 c.2219C>G c.(2218-2220)cCt>cGt p.P740R NM_014691.2 NP_055506.1 O60306 AQR_HUMAN aquarius intron-binding spliceosomal factor 740 catalytic step 2 spliceosome RNA binding breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2) 57 Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08) all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283) TTGTAGAGCAGGGTCTTCTAC 0.418000 11 52 0 0 1 0 0 PCDHA13 56136 broad.mit.edu 37 5 140263296 140263296 + Silent SNP C C T TCGA-CQ-7069-01A-11D-2394-08 TCGA-CQ-7069-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33d8d1bd-6131-4d2b-8b70-89be0ef1dee9 86ad483e-92e1-4e14-ada6-d41574713c7a g.chr5:140263296C>T ENST00000289272.2 + 1 1443 c.1443C>T c.(1441-1443)gaC>gaT p.D481D PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA13_ENST00000409494.1_Silent_p.D481D|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_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) CTGCTCAGGACGCGGACGCAC 0.662000 25 130 0 0 1 0 0 C14orf39 317761 broad.mit.edu 37 14 60923726 60923726 + Missense_Mutation SNP C C T TCGA-CQ-7069-01A-11D-2394-08 TCGA-CQ-7069-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33d8d1bd-6131-4d2b-8b70-89be0ef1dee9 86ad483e-92e1-4e14-ada6-d41574713c7a g.chr14:60923726C>T ENST00000321731.3 - 15 1426 c.1267G>A c.(1267-1269)Gaa>Aaa p.E423K NM_174978.2 NP_777638.2 Q08AQ4 Q08AQ4_HUMAN chromosome 14 open reading frame 39 423 breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(108;0.0448) ATAGGAATTTCAGACGTTCGT 0.373000 33 115 0 0 1 0 0 NFAT5 10725 broad.mit.edu 37 16 69711109 69711109 + Missense_Mutation SNP C C T TCGA-CQ-7069-01A-11D-2394-08 TCGA-CQ-7069-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33d8d1bd-6131-4d2b-8b70-89be0ef1dee9 86ad483e-92e1-4e14-ada6-d41574713c7a g.chr16:69711109C>T ENST00000349945.1 + 11 2831 c.1279C>T c.(1279-1281)Cat>Tat p.H427Y NFAT5_ENST00000567239.1_Missense_Mutation_p.H521Y|NFAT5_ENST00000566899.1_Missense_Mutation_p.H427Y|NFAT5_ENST00000393742.2_Missense_Mutation_p.H427Y|NFAT5_ENST00000354436.2_Missense_Mutation_p.H503Y|NFAT5_ENST00000432919.1_Missense_Mutation_p.H521Y NM_138714.3 NP_619728.2 O94916 NFAT5_HUMAN nuclear factor of activated T-cells 5, tonicity-responsive 503 RHD. excretion|signal transduction|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 ACATTAGAATCATCTTATTGT 0.313000 6 65 0 0 1 0 0 MRPS18A 55168 broad.mit.edu 37 6 43639527 43639527 + Nonsense_Mutation SNP G G C TCGA-CQ-7069-01A-11D-2394-08 TCGA-CQ-7069-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33d8d1bd-6131-4d2b-8b70-89be0ef1dee9 86ad483e-92e1-4e14-ada6-d41574713c7a g.chr6:43639527G>C ENST00000372133.3 - 6 574 c.563C>G c.(562-564)tCa>tGa p.S188* RSPH9_ENST00000372165.4_3'UTR|MRPS18A_ENST00000372116.1_3'UTR|RSPH9_ENST00000372163.4_3'UTR NM_018135.3 NP_060605.1 Q9NVS2 RT18A_HUMAN mitochondrial ribosomal protein S18A 188 translation mitochondrial small ribosomal subunit structural constituent of ribosome kidney(3)|large_intestine(1) 4 all_cancers(18;6.56e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004) all cancers(41;0.000479)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0102)|OV - Ovarian serous cystadenocarcinoma(102;0.137) AGGTGTTCTTGAGTAGCAGAC 0.587000 12 68 0 0 1 0 0 OR1F2P 26184 broad.mit.edu 37 16 3266257 3266257 + RNA SNP C C G TCGA-CQ-7069-01A-11D-2394-08 TCGA-CQ-7069-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33d8d1bd-6131-4d2b-8b70-89be0ef1dee9 86ad483e-92e1-4e14-ada6-d41574713c7a g.chr16:3266257C>G ENST00000576468.1 + 0 418 CTCCTGGCTTCCTATATGCAC 0.532000 15 32 0 0 1 0 0 ACBD3 64746 broad.mit.edu 37 1 226349308 226349308 + Missense_Mutation SNP C C T TCGA-CQ-7069-01A-11D-2394-08 TCGA-CQ-7069-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33d8d1bd-6131-4d2b-8b70-89be0ef1dee9 86ad483e-92e1-4e14-ada6-d41574713c7a g.chr1:226349308C>T ENST00000366812.5 - 4 706 c.652G>A c.(652-654)Gaa>Aaa p.E218K ACBD3_ENST00000464927.1_5'UTR NM_022735.3 NP_073572.2 Q9H3P7 GCP60_HUMAN acyl-CoA binding domain containing 3 218 Arg-rich.|Glu-rich. steroid biosynthetic process|transport Golgi membrane|integral to membrane|mitochondrion fatty-acyl-CoA binding|protein binding breast(2)|endometrium(3)|large_intestine(5)|lung(7)|skin(1)|urinary_tract(2) 20 Breast(184;0.158) GBM - Glioblastoma multiforme(131;0.121) ctttcctcttcttctctccta 0.473000 8 42 0 0 1 0 0 AQR 9716 broad.mit.edu 37 15 35261749 35261749 + Missense_Mutation SNP G G C TCGA-CQ-7069-01A-11D-2394-08 TCGA-CQ-7069-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33d8d1bd-6131-4d2b-8b70-89be0ef1dee9 86ad483e-92e1-4e14-ada6-d41574713c7a g.chr15:35261749G>C ENST00000156471.5 - 1 291 c.66C>G c.(64-66)ttC>ttG p.F22L NM_014691.2 NP_055506.1 O60306 AQR_HUMAN aquarius intron-binding spliceosomal factor 22 catalytic step 2 spliceosome RNA binding breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2) 57 Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08) all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283) CCTGGGTCACGAACTCCGCAT 0.587000 OREG0023038 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 31 0 0 1 0 0 ZNF623 9831 broad.mit.edu 37 8 144732347 144732347 + Missense_Mutation SNP G G A TCGA-CQ-7069-01A-11D-2394-08 TCGA-CQ-7069-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33d8d1bd-6131-4d2b-8b70-89be0ef1dee9 86ad483e-92e1-4e14-ada6-d41574713c7a g.chr8:144732347G>A ENST00000501748.2 + 1 394 c.305G>A c.(304-306)aGa>aAa p.R102K ZNF623_ENST00000526926.1_Missense_Mutation_p.R62K|ZNF623_ENST00000458270.2_Missense_Mutation_p.R62K NM_014789.3 NP_055604.3 O75123 ZN623_HUMAN zinc finger protein 623 102 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3) 27 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) AAGTCAGGAAGAAACCATATT 0.498000 28 100 0 0 1 0 0 TMTC3 160418 broad.mit.edu 37 12 88584309 88584309 + Missense_Mutation SNP G G A TCGA-CQ-7069-01A-11D-2394-08 TCGA-CQ-7069-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33d8d1bd-6131-4d2b-8b70-89be0ef1dee9 86ad483e-92e1-4e14-ada6-d41574713c7a g.chr12:88584309G>A ENST00000266712.6 + 12 1836 c.1616G>A c.(1615-1617)cGa>cAa p.R539Q NM_181783.3 NP_861448.2 Q6ZXV5 TMTC3_HUMAN transmembrane and tetratricopeptide repeat containing 3 539 integral to membrane binding NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1) 31 AACCTGATCCGAGCAAATGAG 0.438000 17 56 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168102167 168102167 + Missense_Mutation SNP G G C TCGA-CQ-7069-01A-11D-2394-08 TCGA-CQ-7069-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33d8d1bd-6131-4d2b-8b70-89be0ef1dee9 86ad483e-92e1-4e14-ada6-d41574713c7a g.chr2:168102167G>C ENST00000409195.1 + 9 4354 c.4265G>C c.(4264-4266)aGa>aCa p.R1422T XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.R1200T|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.R1422T|XIRP2_ENST00000409605.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 1247 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 AAGACAAGTAGACAATTCTTT 0.328000 6 36 0 0 1 0 0 CLIC5 53405 broad.mit.edu 37 6 45909312 45909312 + Missense_Mutation SNP G G C TCGA-CQ-7069-01A-11D-2394-08 TCGA-CQ-7069-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33d8d1bd-6131-4d2b-8b70-89be0ef1dee9 86ad483e-92e1-4e14-ada6-d41574713c7a g.chr6:45909312G>C ENST00000185206.6 - 4 1007 c.855C>G c.(853-855)atC>atG p.I285M CLIC5_ENST00000339561.6_Missense_Mutation_p.I126M|CLIC5_ENST00000544153.1_Missense_Mutation_p.I126M NM_001114086.1 NP_001107558.1 Q9NZA1 CLIC5_HUMAN chloride intracellular channel 5 285 GST C-terminal. female pregnancy actin cytoskeleton|cell cortex|chloride channel complex|Golgi apparatus|insoluble fraction|microtubule organizing center protein binding|voltage-gated chloride channel activity endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3) 13 TGGTATTTTTGATGTAGGCAG 0.502000 22 70 0 0 1 0 0 BMS1P20 96610 broad.mit.edu 37 22 22664639 22664639 + RNA SNP G G A rs9306349 by1000genomes TCGA-CQ-7069-01A-11D-2394-08 TCGA-CQ-7069-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33d8d1bd-6131-4d2b-8b70-89be0ef1dee9 86ad483e-92e1-4e14-ada6-d41574713c7a g.chr22:22664639G>A ENST00000426066.1 + 0 820 NR_027293.1 CCAGCCTTCTGTAACCCAGTA 0.428000 4 45 0 0 1 0 0 LRRC16A 55604 broad.mit.edu 37 6 25500420 25500420 + Missense_Mutation SNP A A T TCGA-CQ-7069-01A-11D-2394-08 TCGA-CQ-7069-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33d8d1bd-6131-4d2b-8b70-89be0ef1dee9 86ad483e-92e1-4e14-ada6-d41574713c7a g.chr6:25500420A>T ENST00000329474.6 + 17 1720 c.1352A>T c.(1351-1353)aAt>aTt p.N451I NM_001173977.1|NM_017640.5 NP_001167448.1|NP_060110.4 Q5VZK9 LR16A_HUMAN leucine rich repeat containing 16A 451 actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process cytosol|lamellipodium|nucleus breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 50 CTGGCTTGTAATCATAACTTG 0.428000 7 18 0 0 1 0 0 MAGEB18 286514 broad.mit.edu 37 X 26158052 26158052 + Missense_Mutation SNP G G C TCGA-CQ-7069-01A-11D-2394-08 TCGA-CQ-7069-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33d8d1bd-6131-4d2b-8b70-89be0ef1dee9 86ad483e-92e1-4e14-ada6-d41574713c7a g.chrX:26158052G>C ENST00000325250.1 + 2 1137 c.950G>C c.(949-951)aGa>aCa p.R317T NM_173699.3 NP_775970.1 Q96M61 MAGBI_HUMAN melanoma antigen family B, 18 317 protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2) 33 ACCCAAGCCAGAGCTGCAGCC 0.517000 7 29 0 0 1 0 0 EMC2 9694 broad.mit.edu 37 8 109465348 109465348 + Missense_Mutation SNP A A G TCGA-CQ-7069-01A-11D-2394-08 TCGA-CQ-7069-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33d8d1bd-6131-4d2b-8b70-89be0ef1dee9 86ad483e-92e1-4e14-ada6-d41574713c7a g.chr8:109465348A>G ENST00000220853.3 + 4 312 c.277A>G c.(277-279)Aca>Gca p.T93A NM_014673.3 NP_055488.1 ER membrane protein complex subunit 2 CAAGCGATTAACAGGCATGAG 0.368000 8 36 0 0 1 0 0 FOSL2 2355 broad.mit.edu 37 2 28634938 28634951 + Frame_Shift_Del DEL CCAGCCCCTGGGCT CCAGCCCCTGGGCT - rs112106981 TCGA-CQ-7069-01A-11D-2394-08 TCGA-CQ-7069-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33d8d1bd-6131-4d2b-8b70-89be0ef1dee9 86ad483e-92e1-4e14-ada6-d41574713c7a g.chr2:28634938_28634951delCCAGCCCCTGGGCT ENST00000264716.4 + 4 1467_1480 c.604_617delCCAGCCCCTGGGCT c.(604-618)gfs p.PAPGL202fs FOSL2_ENST00000379619.1_Frame_Shift_Del_p.PAPGL194fs|FOSL2_ENST00000545753.1_Frame_Shift_Del_p.PAPGL163fs NM_005253.3 NP_005244.1 P15408 FOSL2_HUMAN FOS-like antigen 2 202 cell death|regulation of transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.L206M(1) breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 14 Acute lymphoblastic leukemia(172;0.155) CCGATCGCCCCCAGCCCCTGGGCTGCAGCCCATG 0.659 36 56 --- --- --- --- AC073321.4 0 broad.mit.edu 37 2 217475010 217475010 + RNA DEL G G - TCGA-CQ-7069-01A-11D-2394-08 TCGA-CQ-7069-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33d8d1bd-6131-4d2b-8b70-89be0ef1dee9 86ad483e-92e1-4e14-ada6-d41574713c7a g.chr2:217475010delG ENST00000441803.1 + 0 195 ttttttttttGAAAGAAAGGC 0.393 3 3 --- --- --- --- CTC-338M12.9 0 broad.mit.edu 37 5 180708776 180708777 + RNA INS - - G rs140221514 TCGA-CQ-7069-01A-11D-2394-08 TCGA-CQ-7069-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33d8d1bd-6131-4d2b-8b70-89be0ef1dee9 86ad483e-92e1-4e14-ada6-d41574713c7a g.chr5:180708776_180708777insG ENST00000412295.2 + 0 238 gggcggtaggagggggctggag 0.728 4 6 --- --- --- --- RP11-941H19.3 0 broad.mit.edu 37 8 81213789 81213794 + RNA DEL CACACA CACACA - rs71266069 TCGA-CQ-7069-01A-11D-2394-08 TCGA-CQ-7069-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33d8d1bd-6131-4d2b-8b70-89be0ef1dee9 86ad483e-92e1-4e14-ada6-d41574713c7a g.chr8:81213789_81213794delCACACA ENST00000522044.1 + 0 404 CCCCCACCACcacacacacacacaca 0.544 3 4 --- --- --- --- FRMD8 83786 broad.mit.edu 37 11 65156899 65156899 + Frame_Shift_Del DEL G G - TCGA-CQ-7069-01A-11D-2394-08 TCGA-CQ-7069-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33d8d1bd-6131-4d2b-8b70-89be0ef1dee9 86ad483e-92e1-4e14-ada6-d41574713c7a g.chr11:65156899delG ENST00000317568.5 + 3 316 c.153delG c.(151-153)tcfs p.S51fs FRMD8_ENST00000416776.2_Frame_Shift_Del_p.S51fs|FRMD8_ENST00000355991.5_Intron NM_031904.3 NP_114110.1 Q9BZ67 FRMD8_HUMAN FERM domain containing 8 51 FERM. cytoskeleton binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|urinary_tract(1) 17 ACCTGCCCTCGCTCAGTGCCC 0.652 31 95 --- --- --- --- ACTN3 89 broad.mit.edu 37 11 66321927 66321928 + RNA INS - - A rs141435934 TCGA-CQ-7069-01A-11D-2394-08 TCGA-CQ-7069-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33d8d1bd-6131-4d2b-8b70-89be0ef1dee9 86ad483e-92e1-4e14-ada6-d41574713c7a g.chr11:66321927_66321928insA ENST00000513398.1 + 0 566 ACTN3_ENST00000502692.1_RNA NM_001104.2 NP_001095.1 Q08043 ACTN3_HUMAN actinin, alpha 3 (gene/pseudogene) focal adhesion assembly|muscle filament sliding|regulation of apoptosis actin filament|cytosol|focal adhesion|pseudopodium actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2) 10 gaccctgtctcaaaaaaaaaaa 0.540 3 4 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7577111 7577112 + In_Frame_Ins INS - - CACAAA TCGA-CQ-7069-01A-11D-2394-08 TCGA-CQ-7069-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33d8d1bd-6131-4d2b-8b70-89be0ef1dee9 86ad483e-92e1-4e14-ada6-d41574713c7a g.chr17:7577111_7577112insCACAAA ENST00000420246.2 - 8 958_959 c.826_827insTTTGTG c.(826-828)ctg>TTTGTGctg p.275_276insFV TP53_ENST00000359597.4_In_Frame_Ins_p.275_276insFV|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_In_Frame_Ins_p.275_276insFV|TP53_ENST00000269305.4_In_Frame_Ins_p.275_276insFV|TP53_ENST00000455263.2_In_Frame_Ins_p.275_276insFV NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 275 Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity). C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in LFS; germline mutation and in sporadic cancers; 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.A276P(15)|p.A276S(9)|p.0?(8)|p.A276V(7)|p.A276T(7)|p.A276D(6)|p.A276G(4)|p.A276fs*69(2)|p.?(2)|p.A276_R283delACPGRDRR(1)|p.A276fs*64(1)|p.A276fs*68(1)|p.C275_A276ins10(1)|p.V274_P278del(1)|p.F270_D281del12(1)|p.A276fs*31(1)|p.C275_R283delCACPGRDRR(1)|p.A276fs*70(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.A276_C277delAC(1)|p.C275fs*67(1)|p.V272_K292del21(1)|p.C275fs*20(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) CCCAGGACAGGCACAAACACGC 0.545 111 """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) 11 37 --- --- --- --- SPPL2B 56928 broad.mit.edu 37 19 2340499 2340499 + RNA DEL G G - TCGA-CQ-7069-01A-11D-2394-08 TCGA-CQ-7069-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33d8d1bd-6131-4d2b-8b70-89be0ef1dee9 86ad483e-92e1-4e14-ada6-d41574713c7a g.chr19:2340499delG ENST00000452401.2 + 0 916 AC005258.3_ENST00000590001.1_RNA Q8TCT7 PSL1_HUMAN signal peptide peptidase like 2B Golgi membrane|integral to membrane aspartic-type endopeptidase activity Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) AGCTTGGCCTGGCTCTTAGGG 0.637 2 4 --- --- --- ---