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 RANBP2 5903 broad.mit.edu 37 2 109371498 109371498 + Silent SNP G G A TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr2:109371498G>A ENST00000283195.6 + 16 2466 c.2340G>A c.(2338-2340)ccG>ccA p.P780P NM_006267.4 NP_006258.3 P49792 RBP2_HUMAN RAN binding protein 2 780 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(34) NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 129 ATTCTACACCGTCTCCTACCA 0.353000 6 563 0 0 1 0 0 FAM47C 442444 broad.mit.edu 37 X 37027156 37027156 + Missense_Mutation SNP C C G TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chrX:37027156C>G ENST00000358047.3 + 1 725 c.673C>G c.(673-675)Cag>Gag p.Q225E NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 225 breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 TCTCCGCCCACAGCCTCCCAA 0.647000 5 265 0 0 1 0 0 DHRS2 10202 broad.mit.edu 37 14 24114078 24114078 + Missense_Mutation SNP C C A TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr14:24114078C>A ENST00000250383.6 + 8 1194 c.718C>A c.(718-720)Cat>Aat p.H240N DHRS2_ENST00000344777.7_Silent_p.I243I NM_005794.3 NP_005785.1 Q13268 DHRS2_HUMAN dehydrogenase/reductase (SDR family) member 2 218 C21-steroid hormone metabolic process|cellular response to oxidative stress|myeloid dendritic cell differentiation|negative regulation of apoptosis|negative regulation of cell proliferation|response to toxin mitochondrion|nuclear envelope binding|carbonyl reductase (NADPH) activity endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 14 GBM - Glioblastoma multiforme(265;0.00659) CAAGGAACATCATCAGCTGCA 0.512000 39 185 3.43241e-23 4.01489e-23 1 1 0 SENP7 57337 broad.mit.edu 37 3 101231946 101231946 + Missense_Mutation SNP G G C TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr3:101231946G>C ENST00000394095.2 - 1 82 c.29C>G c.(28-30)cCa>cGa p.P10R SENP7_ENST00000358203.3_5'UTR|SENP7_ENST00000314261.7_Missense_Mutation_p.P10R|SENP7_ENST00000394091.1_5'UTR|SENP7_ENST00000394094.2_Missense_Mutation_p.P10R|SENP7_ENST00000348610.3_5'UTR NM_020654.3 NP_065705.3 Q9BQF6 SENP7_HUMAN SUMO1/sentrin specific peptidase 7 10 proteolysis nucleus cysteine-type peptidase activity breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 GGATGAAGATGGCCGTCGCCC 0.617000 6 600 0 0 1 0 0 ZNF836 162962 broad.mit.edu 37 19 52659075 52659075 + Missense_Mutation SNP C C A TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr19:52659075C>A ENST00000322146.8 - 5 2382 c.1861G>T c.(1861-1863)Gac>Tac p.D621Y CTC-471J1.8_ENST00000594362.1_RNA|ZNF836_ENST00000597252.1_Missense_Mutation_p.D621Y NM_001102657.1 NP_001096127.1 Q6ZNA1 ZN836_HUMAN zinc finger protein 836 621 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 TTTCCACTGTCATTGAAGACC 0.423000 5 341 0.000157383 0.00017161 1 1 0 MC5R 4161 broad.mit.edu 37 18 13826098 13826098 + Missense_Mutation SNP C C T TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr18:13826098C>T ENST00000324750.3 + 1 556 c.334C>T c.(334-336)Cgc>Tgc p.R112C NM_005913.2 NP_005904.1 P33032 MC5R_HUMAN melanocortin 5 receptor 112 G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane melanocortin receptor activity|protein binding NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1) 41 CGCCTTTGTGCGCCACATTGA 0.522000 65 124 0 0 1 0 0 NARG2 79664 broad.mit.edu 37 15 60747571 60747571 + Missense_Mutation SNP A A G TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr15:60747571A>G ENST00000261520.4 - 7 971 c.737T>C c.(736-738)aTa>aCa p.I246T NARG2_ENST00000561114.1_Missense_Mutation_p.I246T|NARG2_ENST00000439632.1_Missense_Mutation_p.I109T NM_024611.4 NP_078887.2 Q659A1 NARG2_HUMAN NMDA receptor regulated 2 246 nucleus breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 32 AATGGTAGCTATATCGTCCTT 0.333000 81 247 0 0 1 0 0 PTH2 113091 broad.mit.edu 37 19 49926533 49926533 + Missense_Mutation SNP G G C TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr19:49926533G>C ENST00000270631.1 - 1 165 c.64C>G c.(64-66)Ctg>Gtg p.L22V NM_178449.3 NP_848544.1 Q96A98 TIP39_HUMAN parathyroid hormone 2 22 neuropeptide signaling pathway extracellular region p.L22V(2) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836) GGCACCACcagcagcagcagc 0.692000 5 78 0 0 1 0 0 ATP13A2 23400 broad.mit.edu 37 1 17322564 17322564 + Silent SNP G G A TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr1:17322564G>A ENST00000452699.1 - 15 1623 c.1434C>T c.(1432-1434)taC>taT p.Y478Y ATP13A2_ENST00000502860.1_5'UTR|RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000341676.5_Silent_p.Y478Y|ATP13A2_ENST00000326735.8_Silent_p.Y483Y NM_001141973.1|NM_022089.2 NP_001135445.1|NP_071372.1 Q9NQ11 AT132_HUMAN ATPase type 13A2 483 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182) GGCTCTGGGCGTAGAGCGTGC 0.622000 5 511 0 0 1 0 0 CORO2A 7464 broad.mit.edu 37 9 100895363 100895363 + Missense_Mutation SNP C C T TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr9:100895363C>T ENST00000343933.5 - 5 862 c.605G>A c.(604-606)cGc>cAc p.R202H CORO2A_ENST00000375077.4_Missense_Mutation_p.R202H NM_003389.3 NP_003380.3 Q92828 COR2A_HUMAN coronin, actin binding protein, 2A 202 actin cytoskeleton organization|intracellular signal transduction actin cytoskeleton|transcriptional repressor complex actin filament binding endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1) 26 Acute lymphoblastic leukemia(62;0.0559) CCGAATCTTGCGGTCTTTGCA 0.582000 5 411 0 0 1 0 0 VWA3B 200403 broad.mit.edu 37 2 98914394 98914394 + Missense_Mutation SNP G G A rs146321928 by1000genomes TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr2:98914394G>A ENST00000477737.1 + 24 3386 c.3182G>A c.(3181-3183)cGc>cAc p.R1061H VWA3B_ENST00000490947.2_3'UTR NM_144992.4 NP_659429.4 Q502W6 VWA3B_HUMAN von Willebrand factor A domain containing 3B 1061 NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 TGTGTGAGCCGCACCCAAGCA 0.532000 5 237 0 0 1 0 0 SBF1 6305 broad.mit.edu 37 22 50900742 50900742 + Missense_Mutation SNP C C T TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr22:50900742C>T ENST00000380817.2 - 19 2471 c.2288G>A c.(2287-2289)cGc>cAc p.R763H SBF1_ENST00000348911.6_Missense_Mutation_p.R764H|SBF1_ENST00000390679.3_Missense_Mutation_p.R763H NM_002972.2 NP_002963.2 O95248 MTMR5_HUMAN SET binding factor 1 763 protein dephosphorylation integral to membrane|nucleus protein tyrosine/serine/threonine phosphatase activity breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 43 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247) GTAGCTCATGCGGTTGGCATA 0.647000 5 358 0 0 1 0 0 HMGN2P46 0 broad.mit.edu 37 15 45848224 45848224 + RNA SNP G G T TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr15:45848224G>T ENST00000409454.1 + 0 1219 TGCAGATTTTGTTTAGCTTTT 0.318000 10 66 0.160694 0.167643 1 1 0 DSG2 1829 broad.mit.edu 37 18 29111024 29111024 + Silent SNP G G T TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr18:29111024G>T ENST00000261590.8 + 9 1298 c.1089G>T c.(1087-1089)tcG>tcT p.S363S NM_001943.3 NP_001934.2 Q14126 DSG2_HUMAN desmoglein 2 363 Cadherin 3. cellular component disassembly involved in apoptosis|homophilic cell adhesion desmosome|integral to membrane calcium ion binding breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1) 49 OV - Ovarian serous cystadenocarcinoma(10;0.0068) TTCACAAGTCGATTAGGAGTA 0.363000 4 228 1 1 1 1 0 ADAMTS17 170691 broad.mit.edu 37 15 100636613 100636613 + Silent SNP G G A rs141443664 TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr15:100636613G>A ENST00000268070.4 - 15 2190 c.2085C>T c.(2083-2085)gaC>gaT p.D695D NM_139057.2 NP_620688.2 Q8TE56 ATS17_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 17 695 Cys-rich. proteolysis intracellular|proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2) 50 Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571) OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161) COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219) AGGTCTTGCCGTCCCCGCTGC 0.592000 6 539 0 0 1 0 0 HAP1 9001 broad.mit.edu 37 17 39881075 39881075 + Missense_Mutation SNP C C T TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr17:39881075C>T ENST00000393939.2 - 10 1672 c.1663G>A c.(1663-1665)Gcc>Acc p.A555T HAP1_ENST00000310778.5_Missense_Mutation_p.A632T|JUP_ENST00000540235.1_Intron|HAP1_ENST00000347901.4_Missense_Mutation_p.A580T|HAP1_ENST00000341193.5_Missense_Mutation_p.A563T P54257 HAP1_HUMAN huntingtin-associated protein 1 632 Glu-rich. brain development|protein localization|synaptic transmission actin cytoskeleton protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1) 21 Breast(137;0.000162) BRCA - Breast invasive adenocarcinoma(4;0.0677) TGCCAGTTGGCCAGCTGCTGG 0.627000 7 633 0 0 1 0 0 NFE2L3 9603 broad.mit.edu 37 7 26225102 26225102 + Missense_Mutation SNP G G A TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr7:26225102G>A ENST00000056233.3 + 4 2043 c.1784G>A c.(1783-1785)tGt>tAt p.C595Y NM_004289.6 NP_004280.5 Q9Y4A8 NF2L3_HUMAN nuclear factor, erythroid 2-like 3 595 transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity p.C595Y(1) breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7) 29 GCGCAGAACTGTCGTAAACGC 0.368000 4 126 0 0 1 0 0 TSC2 7249 broad.mit.edu 37 16 2136297 2136297 + Missense_Mutation SNP C C T rs137854039 TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr16:2136297C>T ENST00000219476.3 + 37 5396 c.4766C>T c.(4765-4767)cCg>cTg p.P1589L TSC2_ENST00000568454.1_Missense_Mutation_p.P1533L|TSC2_ENST00000401874.2_Missense_Mutation_p.P1522L|TSC2_ENST00000353929.4_Missense_Mutation_p.P1546L|TSC2_ENST00000382538.6_Missense_Mutation_p.P1474L|TSC2_ENST00000350773.4_Missense_Mutation_p.P1566L|TSC2_ENST00000439673.2_Missense_Mutation_p.P1486L NM_000548.3 NP_000539.2 P49815 TSC2_HUMAN tuberous sclerosis 2 1589 Rap-GAP. cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex GTPase activator activity|protein homodimerization activity NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1) 56 Hepatocellular(780;0.0202) GACTGCCAGCCGGACAAGGTG 0.617000 """D, Mis, N, F, S""" """hamartoma, renal cell""" Tuberous Sclerosis 66 104 0 0 1 0 0 TSSC2 0 broad.mit.edu 37 11 3427765 3427765 + RNA SNP G G C TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr11:3427765G>C ENST00000529482.1 + 0 882 CACACGTCCTGCAGTGGCCTG 0.602000 5 196 0 0 1 0 0 FAM86C2P 0 broad.mit.edu 37 11 67560517 67560517 + RNA SNP T T C TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr11:67560517T>C ENST00000528089.1 - 0 1233 GATGTCTTATTAGAGGGCAGT 0.418000 3 15 0 0 1 0 0 TVP23C 201158 broad.mit.edu 37 17 15441469 15441469 + Splice_Site SNP C C T rs139351610 by1000genomes TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr17:15441469C>T ENST00000584811.1 - 7 1815 c.e7-2 TVP23C_ENST00000225576.3_Intron|TVP23C_ENST00000438826.3_Splice_Site|TVP23C_ENST00000428082.2_Splice_Site|TVP23C_ENST00000519970.1_Intron|TVP23C-CDRT4_ENST00000522212.2_Intron trans-golgi network vesicle protein 23 homolog C (S. cerevisiae) TCCAGTGTTCCGCAAAAGACA 0.393000 6 173 0 0 1 0 0 CDKN2A 1029 broad.mit.edu 37 9 21971186 21971186 + Nonsense_Mutation SNP G G A rs121913387 TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr9:21971186G>A ENST00000304494.5 - 2 442 c.172C>T c.(172-174)Cga>Tga p.R58* CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P72L|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P113L|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R7*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P72L|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R7* NM_000077.4 NP_000068.1 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 58 R -> Q (in dbSNP:rs36204273). cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding p.0?(1315)|p.R58*(78)|p.?(45)|p.M53_R58del(3)|p.P113L(3)|p.R58fs*59(2)|p.M54fs*61(2)|p.R58fs*88(2)|p.0(1)|p.V28_V51del(1)|p.A57_R58>V*(1)|p.P113fs*>61(1)|p.R58fs*62(1)|p.R58fs*61(1)|p.G55fs*86(1)|p.R58R(1)|p.A57fs*85(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) TCCGCCACTCGGGCGCTGCCC 0.677000 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 18 58 0 0 1 0 0 CDH24 64403 broad.mit.edu 37 14 23517662 23517662 + Missense_Mutation SNP G G A TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr14:23517662G>A ENST00000397359.3 - 13 2246 c.1987C>T c.(1987-1989)Cgg>Tgg p.R663W CDH24_ENST00000554034.1_Missense_Mutation_p.R625W|CDH24_ENST00000487137.2_Missense_Mutation_p.R625W|CDH24_ENST00000485922.1_5'UTR|CDH24_ENST00000267383.5_Missense_Mutation_p.R663W NM_022478.3 NP_071923.2 Q86UP0 CAD24_HUMAN cadherin 24, type 2 663 adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion cell-cell junction|integral to membrane alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 26 all_cancers(95;3.3e-05) GBM - Glioblastoma multiforme(265;0.00654) TTCTGCCGCCGCAGGGCCACG 0.672000 6 415 0 0 1 0 0 HSD17B7P2 0 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 9 158 0 0 1 0 0 MUC21 394263 broad.mit.edu 37 6 30954947 30954947 + Missense_Mutation SNP A A C rs144550410 TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr6:30954947A>C ENST00000376296.3 + 2 1236 c.995A>C c.(994-996)aAc>aCc p.N332T MUC21_ENST00000486149.2_5'UTR NM_001010909.2 NP_001010909.2 Q5SSG8 MUC21_HUMAN mucin 21, cell surface associated 332 28 X 15 AA approximate tandem repeats.|Ser-rich. integral to membrane|plasma membrane NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 42 ACAGCCACCAACTCTGAGTCC 0.622000 7 797 0 0 1 0 0 ATXN2L 11273 broad.mit.edu 37 16 28844418 28844418 + Silent SNP T T C TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr16:28844418T>C ENST00000336783.4 + 14 1865 c.1698T>C c.(1696-1698)ccT>ccC p.P566P RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000395547.2_Silent_p.P566P|ATXN2L_ENST00000382686.4_Silent_p.P566P|ATXN2L_ENST00000340394.8_Silent_p.P566P|ATXN2L_ENST00000325215.6_Silent_p.P566P|ATXN2L_ENST00000564304.1_Silent_p.P572P|ATXN2L_ENST00000570200.1_Silent_p.P566P NM_007245.3 NP_009176.2 Q8WWM7 ATX2L_HUMAN ataxin 2-like 566 membrane breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 36 GCCTGGATCCTTTTCCTCCCC 0.532000 5 584 0 0 1 0 0 TBC1D1 23216 broad.mit.edu 37 4 38022213 38022213 + Splice_Site SNP G G A TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr4:38022213G>A ENST00000261439.4 + 5 1329 c.972_splice c.e5-1 p.G325_splice TBC1D1_ENST00000508802.1_Splice_Site_p.G325_splice NM_001253914.1|NM_001253915.1|NM_015173.3 NP_001240843.1|NP_001240844.1|NP_055988.2 Q86TI0 TBCD1_HUMAN TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1 325 PID. nucleus Rab GTPase activator activity NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1) 36 CTTTGGCAGGGCATCAGACAC 0.458000 6 697 0 0 1 0 0 MUC7 4589 broad.mit.edu 37 4 71347185 71347185 + Missense_Mutation SNP T T C rs79807294 by1000genomes TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr4:71347185T>C ENST00000413702.1 + 4 1012 c.724T>C c.(724-726)Tct>Cct p.S242P MUC7_ENST00000304887.5_Missense_Mutation_p.S242P|MUC7_ENST00000456088.1_Missense_Mutation_p.S242P NM_001145006.1 NP_001138478.1 Q8TAX7 MUC7_HUMAN mucin 7, secreted 242 Thr-rich. extracellular region protein binding central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Lung(101;0.211) ACCCACACCTTCTGCAACTAC 0.592000 7 689 0 0 1 0 0 PIK3CB 5291 broad.mit.edu 37 3 138382857 138382857 + Missense_Mutation SNP C C T rs142933486 by1000genomes TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr3:138382857C>T ENST00000477593.1 - 20 2760 c.2687G>A c.(2686-2688)cGa>cAa p.R896Q PIK3CB_ENST00000289153.2_Missense_Mutation_p.R896Q|PIK3CB_ENST00000544716.1_Missense_Mutation_p.R347Q P42338 PK3CB_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta 896 PI3K/PI4K. activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 41 CTCAATGGCTCGGTCCAGGTC 0.448000 28 99 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29091841 29091841 + Silent SNP G G A rs146546850 byFrequency TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr22:29091841G>A ENST00000544772.1 - 12 1889 c.453C>T c.(451-453)tcC>tcT p.S151S CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000405598.1_Silent_p.S372S NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 372 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.S372S(8) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCAAAATCTTGGAGTGCCCAA 0.413000 F breast Direct reversal of damage;Other conserved DNA damage response genes 7 234 0 0 1 0 0 CCR10 2826 broad.mit.edu 37 17 40832279 40832279 + Silent SNP G G C TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr17:40832279G>C ENST00000332438.4 - 2 400 c.381C>G c.(379-381)ggC>ggG p.G127G CTD-3193K9.4_ENST00000593139.1_RNA|CCR10_ENST00000591765.1_5'UTR NM_016602.2 NP_057686.2 P46092 CCR10_HUMAN chemokine (C-C motif) receptor 10 127 integral to plasma membrane lung(1)|ovary(1)|skin(1) 3 Breast(137;0.000153) BRCA - Breast invasive adenocarcinoma(366;0.14) GGAAGAGGAAGCCGGCGTGGA 0.706000 5 22 0 0 1 0 0 ZCCHC7 84186 broad.mit.edu 37 9 37349387 37349387 + Missense_Mutation SNP C C T TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr9:37349387C>T ENST00000336755.5 + 7 1127 c.1021C>T c.(1021-1023)Cct>Tct p.P341S ZCCHC7_ENST00000461038.1_3'UTR|ZCCHC7_ENST00000534928.1_Missense_Mutation_p.P51S NM_032226.2 NP_115602.2 Q8N3Z6 ZCHC7_HUMAN zinc finger, CCHC domain containing 7 341 nucleic acid binding|zinc ion binding central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 30 GBM - Glioblastoma multiforme(29;0.0137) GCCGAAGACCCCTTCAAGACC 0.418000 53 187 0 0 1 0 0 RPTN 126638 broad.mit.edu 37 1 152127897 152127897 + Missense_Mutation SNP C C T TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr1:152127897C>T ENST00000316073.3 - 3 1742 c.1678G>A c.(1678-1680)Ggt>Agt p.G560S NM_001122965.1 NP_001116437.1 Q6XPR3 RPTN_HUMAN repetin 560 Gln-rich. proteinaceous extracellular matrix calcium ion binding breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 59 TCTGTCTGACCGTAGTGGGAA 0.502000 12 1640 0 0 1 0 0 KRTAP10-5 386680 broad.mit.edu 37 21 45999841 45999841 + Silent SNP A A G TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr21:45999841A>G ENST00000400372.1 - 1 640 c.615T>C c.(613-615)tgT>tgC p.C205C TSPEAR_ENST00000323084.4_Intron NM_198694.2 NP_941967.2 P60370 KR105_HUMAN keratin associated protein 10-5 205 22 X 5 AA repeats of C-C-X(3). keratin filament p.C205C(2) endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1) 14 AAGCCGGCTGACAGCTAGACT 0.632000 6 654 0 0 1 0 0 CR1 1378 broad.mit.edu 37 1 207787753 207787753 + Nonsense_Mutation SNP C C T rs55749440 TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr1:207787753C>T ENST00000367049.4 + 40 6580 c.6580C>T c.(6580-6582)Cga>Tga p.R2194* CR1_ENST00000367052.1_Nonsense_Mutation_p.R1744*|CR1_ENST00000367053.1_Nonsense_Mutation_p.R1744*|CR1_ENST00000367051.1_Nonsense_Mutation_p.R1744*|CR1_ENST00000400960.2_Nonsense_Mutation_p.R1744* NM_000651.4 NP_000642.3 P17927 CR1_HUMAN complement component (3b/4b) receptor 1 (Knops blood group) 1744 complement activation, classical pathway|innate immune response integral to plasma membrane complement receptor activity p.R1749*(9)|p.R2194*(9)|p.R1744*(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 CTTTAGGTTCCGATTAAAAGG 0.423000 4 135 0 0 1 0 0 DVL3 1857 broad.mit.edu 37 3 183884692 183884692 + Missense_Mutation SNP G G A TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr3:183884692G>A ENST00000313143.3 + 11 1375 c.1127G>A c.(1126-1128)gGc>gAc p.G376D EIF2B5_ENST00000444495.1_Intron|DVL3_ENST00000431765.1_Missense_Mutation_p.G359D NM_004423.3 NP_004414.3 Q92997 DVL3_HUMAN dishevelled segment polarity protein 3 376 canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent cytoplasm beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1) 35 all_cancers(143;1.12e-10)|Ovarian(172;0.0339) Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22) CCTGCATACGGCATGAGCCCC 0.647000 6 462 0 0 1 0 0 RNF213 57674 broad.mit.edu 37 17 78317808 78317808 + Nonsense_Mutation SNP C C A TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr17:78317808C>A ENST00000582970.1 + 28 6478 c.6335C>A c.(6334-6336)tCa>tAa p.S2112* RNF213_ENST00000336301.6_Nonsense_Mutation_p.S185*|RNF213_ENST00000508628.2_Nonsense_Mutation_p.S2161* NM_001256071.1 NP_001243000.1 Q9HCF4 ALO17_HUMAN ring finger protein 213 0 NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 130 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) AGGAGCTCTTCAGCGCTGGTC 0.522000 7 269 1 1 1 1 0 ANKRD20A8P 0 broad.mit.edu 37 2 95522786 95522786 + RNA SNP T T C TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr2:95522786T>C ENST00000432432.2 - 0 241 NR_040113.1 p.K44K(1) CGGCGTCGCCTTTGACAGCTG 0.687000 5 252 0 0 1 0 0 HSPA5 3309 broad.mit.edu 37 9 128000914 128000914 + Missense_Mutation SNP C C T TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr9:128000914C>T ENST00000324460.6 - 6 1392 c.1189G>A c.(1189-1191)Ggt>Agt p.G397S NM_005347.4 NP_005338.1 P11021 GRP78_HUMAN heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) 397 anti-apoptosis|cellular response to glucose starvation|ER-associated protein catabolic process|platelet activation|platelet degranulation|regulation of protein folding in endoplasmic reticulum cell surface|endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|integral to endoplasmic reticulum membrane|melanosome|midbody|nucleus|perinuclear region of cytoplasm ATP binding|ATPase activity|calcium ion binding|caspase inhibitor activity|chaperone binding|misfolded protein binding|protein binding, bridging|protein domain specific binding|ubiquitin protein ligase binding|unfolded protein binding breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1) 23 Antihemophilic Factor(DB00025) ACAGCAGCACCATACGCTACA 0.478000 Prostate(1;0.17) 58 186 0 0 1 0 0 HLX 3142 broad.mit.edu 37 1 221057751 221057751 + Missense_Mutation SNP C C T TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr1:221057751C>T ENST00000366903.6 + 4 2673 c.1172C>T c.(1171-1173)aCg>aTg p.T391M HLX_ENST00000549319.1_Missense_Mutation_p.T177M NM_021958.3 NP_068777.1 Q14774 HLX_HUMAN H2.0-like homeobox 391 Ser-rich. cell differentiation nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 GBM - Glioblastoma multiforme(131;0.00914) CCCAGCGACACGGAGCGGACT 0.642000 59 165 0 0 1 0 0 ANKRD30BP2 0 broad.mit.edu 37 21 14414844 14414844 + RNA SNP T T C rs148060711 by1000genomes TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr21:14414844T>C ENST00000507941.1 + 0 95 ACTGGGCCTGTGCCAATGGCC 0.433000 6 112 0 0 1 0 0 KIF18A 81930 broad.mit.edu 37 11 28080600 28080600 + Missense_Mutation SNP C C G TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr11:28080600C>G ENST00000263181.6 - 13 2111 c.1821G>C c.(1819-1821)ttG>ttC p.L607F NM_031217.3 NP_112494.3 Q8NI77 KI18A_HUMAN kinesin family member 18A 607 blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle actin binding|ATP binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2) 36 TCCTCTCTACCAAATGTTCGA 0.408000 9 521 0 0 1 0 0 CACNG2 10369 broad.mit.edu 37 22 36960760 36960760 + Missense_Mutation SNP G G A TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr22:36960760G>A ENST00000300105.6 - 4 1591 c.610C>T c.(610-612)Cgg>Tgg p.R204W NM_006078.3 NP_006069.1 Q9Y698 CCG2_HUMAN calcium channel, voltage-dependent, gamma subunit 2 204 membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1) 18 TGTTTGTGCCGGTCGATAAAC 0.627000 7 960 0 0 1 0 0 LRIT1 26103 broad.mit.edu 37 10 85991943 85991943 + Missense_Mutation SNP C C T TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr10:85991943C>T ENST00000372105.3 - 4 1633 c.1612G>A c.(1612-1614)Gtc>Atc p.V538I NM_015613.2 NP_056428.1 Q9P2V4 LRIT1_HUMAN leucine-rich repeat, immunoglobulin-like and transmembrane domains 1 538 integral to endoplasmic reticulum membrane p.V538I(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1) 23 AGGGCAATGACGATGGCCACA 0.532000 30 163 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29091840 29091840 + Missense_Mutation SNP T T C rs142470496 byFrequency TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr22:29091840T>C ENST00000544772.1 - 12 1890 c.454A>G c.(454-456)Aag>Gag p.K152E CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 373 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.K373E(9) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCCAAAATCTTGGAGTGCCCA 0.418000 F breast Direct reversal of damage;Other conserved DNA damage response genes 7 234 0 0 1 0 0 CDH26 60437 broad.mit.edu 37 20 58574705 58574705 + Missense_Mutation SNP C C T TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr20:58574705C>T ENST00000348616.4 + 14 2384 c.2084C>T c.(2083-2085)aCg>aTg p.T695M CDH26_ENST00000497614.1_3'UTR|CDH26_ENST00000350849.6_Missense_Mutation_p.T28M|CDH26_ENST00000244047.5_Missense_Mutation_p.T695M|CDH26_ENST00000244049.3_Missense_Mutation_p.T28M NM_177980.2 NP_817089.1 Q8IXH8 CAD26_HUMAN cadherin 26 695 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1) 44 all_lung(29;0.00963) BRCA - Breast invasive adenocarcinoma(7;5.58e-09) GCAGGACCCACGCAGGGAGTT 0.522000 51 229 0 0 1 0 0 AP005901.1 0 broad.mit.edu 37 18 15323347 15323347 + RNA SNP T T C TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr18:15323347T>C ENST00000455308.2 - 0 501 NR_027417.1 CCAATAAAAGTGGTGTGTGGC 0.303000 3 20 0 0 1 0 0 SYNPO2L 79933 broad.mit.edu 37 10 75406859 75406859 + Missense_Mutation SNP G G A TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr10:75406859G>A ENST00000394810.2 - 4 2700 c.2551C>T c.(2551-2553)Cgg>Tgg p.R851W SYNPO2L_ENST00000372872.4_Intron|SYNPO2L_ENST00000372873.4_Missense_Mutation_p.R627W NM_001114133.1 NP_001107605.1 Q9H987 SYP2L_HUMAN synaptopodin 2-like 851 Pro-rich. cytoplasm|cytoskeleton actin binding p.R627W(2)|p.R851W(1) breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Prostate(51;0.0112) GGCTGATGCCGCATAAAATCT 0.577000 5 445 0 0 1 0 0 LZTS3 0 broad.mit.edu 37 20 3145122 3145122 + Missense_Mutation SNP C C T TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr20:3145122C>T ENST00000329152.3 - 3 3397 c.2000G>A c.(1999-2001)cGc>cAc p.R667H LZTS3_ENST00000360342.3_Missense_Mutation_p.R621H|LZTS3_ENST00000337576.5_Missense_Mutation_p.R621H NM_014731.2 NP_055546.1 GGACTCAATGCGCTCGAGGCG 0.647000 5 434 0 0 1 0 0 SCNN1G 6340 broad.mit.edu 37 16 23226527 23226527 + Missense_Mutation SNP C C T TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr16:23226527C>T ENST00000300061.2 + 13 1830 c.1687C>T c.(1687-1689)Cgc>Tgc p.R563C NM_001039.3 NP_001030.2 P51170 SCNNG_HUMAN sodium channel, non-voltage-gated 1, gamma subunit 563 excretion|sensory perception of taste apical plasma membrane|integral to plasma membrane ligand-gated sodium channel activity|WW domain binding NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 34 GBM - Glioblastoma multiforme(48;0.0366) Amiloride(DB00594)|Triamterene(DB00384) TATCATTGCCCGCCGCCAGTG 0.587000 83 259 0 0 1 0 0 CRNN 49860 broad.mit.edu 37 1 152382520 152382520 + Silent SNP G G A TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr1:152382520G>A ENST00000271835.3 - 3 1100 c.1038C>T c.(1036-1038)caC>caT p.H346H RP1-91G5.3_ENST00000411804.1_RNA NM_016190.2 NP_057274.1 Q9UBG3 CRNN_HUMAN cornulin 346 Gln-rich. cell-cell adhesion|response to heat cytoplasm|membrane calcium ion binding breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) GTATCTGAGTGTGTCCTCCTG 0.597000 6 739 0 0 1 0 0 SHKBP1 92799 broad.mit.edu 37 19 41083342 41083342 + Missense_Mutation SNP G G A TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr19:41083342G>A ENST00000291842.5 + 3 230 c.181G>A c.(181-183)Gga>Aga p.G61R SHKBP1_ENST00000600733.1_Missense_Mutation_p.G61R NM_138392.3 NP_612401.2 Q8TBC3 SHKB1_HUMAN SH3KBP1 binding protein 1 61 BTB. voltage-gated potassium channel complex voltage-gated potassium channel activity breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1) 29 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) AGATGAGACCGGAGCAGTGAG 0.607000 5 412 0 0 1 0 0 KDM6B 23135 broad.mit.edu 37 17 7752044 7752044 + Missense_Mutation SNP G G A TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr17:7752044G>A ENST00000254846.5 + 11 2827 c.2438G>A c.(2437-2439)gGa>gAa p.G813E KDM6B_ENST00000448097.2_Missense_Mutation_p.G813E NM_001080424.1 NP_001073893.1 O15054 KDM6B_HUMAN lysine (K)-specific demethylase 6B 813 Pro-rich. inflammatory response nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5) 37 GTGCTGGAGGGACAAAAGTAC 0.647000 101 242 0 0 1 0 0 PDE10A 10846 broad.mit.edu 37 6 165806202 165806202 + Missense_Mutation SNP G G A TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr6:165806202G>A ENST00000366882.1 - 17 1713 c.1559C>T c.(1558-1560)gCg>gTg p.A520V PDE10A_ENST00000539869.2_Missense_Mutation_p.A530V|PDE10A_ENST00000354448.4_Missense_Mutation_p.A520V Q9Y233 PDE10_HUMAN phosphodiesterase 10A 520 platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding p.A520V(1) breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 71 Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221) OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05) Dipyridamole(DB00975) TACAGTGACCGCATGCTTCCA 0.438000 4 183 0 0 1 0 0 FAM86JP 0 broad.mit.edu 37 3 125647387 125647387 + RNA SNP G G A TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr3:125647387G>A ENST00000485843.1 + 0 532 NR_024251.1 ACCAGAAACTGTTTCCCTATG 0.502000 12 520 0 0 1 0 0 ZAN 7455 broad.mit.edu 37 7 100350361 100350361 + RNA SNP T T C TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr7:100350361T>C ENST00000542585.1 + 0 2781 ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000349350.6_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) ACGGAAAAACTCACCATCCCC 0.502000 11 438 0 0 1 0 0 CXCR2 3579 broad.mit.edu 37 2 219000390 219000390 + Missense_Mutation SNP G G A TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr2:219000390G>A ENST00000318507.2 + 3 1293 c.866G>A c.(865-867)cGc>cAc p.R289H NM_001557.3 NP_001548.1 P25025 CXCR2_HUMAN chemokine (C-X-C motif) receptor 2 289 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation cell surface|integral to plasma membrane|mast cell granule interleukin-8 receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1) 22 TGTGAGCGCCGCAATCACATC 0.597000 5 300 0 0 1 0 0 CCDC9 26093 broad.mit.edu 37 19 47774764 47774764 + Missense_Mutation SNP G G T TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr19:47774764G>T ENST00000221922.6 + 12 1647 c.1425G>T c.(1423-1425)gaG>gaT p.E475D NM_015603.2 NP_056418.1 Q9Y3X0 CCDC9_HUMAN coiled-coil domain containing 9 475 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1) 12 all_cancers(25;0.0432)|all_epithelial(76;0.00812)|Medulloblastoma(540;0.0208)|all_neural(266;0.0416)|Hepatocellular(1079;0.114) OV - Ovarian serous cystadenocarcinoma(262;8.51e-95)|Epithelial(262;1.15e-92)|all cancers(93;7.67e-84)|GBM - Glioblastoma multiforme(486;0.024)|STAD - Stomach adenocarcinoma(1328;0.183) GTCCGGAGGAGCCCCTGCTGG 0.677000 5 357 1 1 1 1 0 PCDH1 5097 broad.mit.edu 37 5 141243880 141243880 + Silent SNP G G A rs149691852 by1000genomes TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr5:141243880G>A ENST00000287008.3 - 3 2163 c.2016C>T c.(2014-2016)agC>agT p.S672S PCDH1_ENST00000503492.1_Intron|PCDH1_ENST00000394536.3_Silent_p.S672S|PCDH1_ENST00000456271.1_Silent_p.S660S|PCDH1_ENST00000536585.1_Silent_p.S650S|PCDH1_ENST00000511044.1_5'UTR NM_032420.2 NP_115796.2 Q08174 PCDH1_HUMAN protocadherin 1 672 Cadherin 6. cell-cell signaling|homophilic cell adhesion|nervous system development cell-cell junction|integral to plasma membrane calcium ion binding breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1) 51 Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;1.06e-05) CTCGATCAAAGCTCAGGCTGG 0.552000 70 222 0 0 1 0 0 DPY19L2P2 0 broad.mit.edu 37 7 102912190 102912190 + RNA SNP T T G TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr7:102912190T>G ENST00000312132.4 - 0 2389 TCTGGATAAATATGGAAGCGT 0.343000 4 159 0 0 1 0 0 ZNF143 7702 broad.mit.edu 37 11 9519322 9519322 + Silent SNP A A T TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr11:9519322A>T ENST00000396602.2 + 10 1061 c.942A>T c.(940-942)ctA>ctT p.L314L ZNF143_ENST00000396604.1_Silent_p.L313L|ZNF143_ENST00000396597.3_Silent_p.L283L|ZNF143_ENST00000299606.2_Silent_p.L286L|ZNF143_ENST00000530463.1_Silent_p.L313L NM_003442.5 NP_003433.3 P52747 ZN143_HUMAN zinc finger protein 143 314 regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter nucleoplasm DNA binding|zinc ion binding endometrium(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1) 13 all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212) CAGGAGATCTACAGAAACACA 0.368000 4 170 0 0 1 0 0 RANBP9 10048 broad.mit.edu 37 6 13711709 13711709 + Missense_Mutation SNP G G T TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr6:13711709G>T ENST00000011619.3 - 1 87 c.29C>A c.(28-30)cCg>cAg p.P10Q NM_005493.2 NP_005484.2 Q96S59 RANB9_HUMAN RAN binding protein 9 10 Poly-Pro. axon guidance|microtubule nucleation|protein complex assembly cytosol|microtubule associated complex|nucleus Ran GTPase binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1) 16 Breast(50;0.00669)|Ovarian(93;0.0634) all_hematologic(90;0.117) Epithelial(50;0.223) ctgctgctgcggcggcggcgg 0.761000 5 57 0.014758 0.01565 1 1 0 AGAP6 414189 broad.mit.edu 37 10 51754173 51754173 + Missense_Mutation SNP G G T TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr10:51754173G>T ENST00000374056.4 + 3 709 c.311G>T c.(310-312)aGc>aTc p.S104I AGAP6_ENST00000412531.3_Missense_Mutation_p.S127I C9IYN2 C9IYN2_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 6 127 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding p.S127I(2) NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2) 29 ATAAGAAGAAGCAACTGTACA 0.269000 6 153 3.59834e-05 3.9459e-05 1 1 0 TMEM161B 153396 broad.mit.edu 37 5 87502295 87502295 + Missense_Mutation SNP C C A TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr5:87502295C>A ENST00000296595.6 - 7 744 c.620G>T c.(619-621)aGt>aTt p.S207I TMEM161B_ENST00000512429.1_Missense_Mutation_p.S196I|TMEM161B_ENST00000509387.1_Missense_Mutation_p.S80I|TMEM161B_ENST00000514135.1_Missense_Mutation_p.S207I|TMEM161B_ENST00000506536.1_Missense_Mutation_p.S25I|TMEM161B_ENST00000511218.1_Missense_Mutation_p.S25I NM_153354.3 NP_699185.1 Q8NDZ6 T161B_HUMAN transmembrane protein 161B 207 integral to membrane endometrium(4)|large_intestine(3)|lung(9)|skin(3)|upper_aerodigestive_tract(1) 20 all_cancers(142;0.000275)|Lung NSC(167;0.00901)|all_lung(232;0.0111)|Colorectal(57;0.0959)|Ovarian(174;0.1) OV - Ovarian serous cystadenocarcinoma(54;6.24e-36)|Epithelial(54;6.8e-31)|all cancers(79;1.07e-26) CTGCATCGCACTGTCTGAAAA 0.279000 7 49 0.0381472 0.0402318 1 1 0 TSSC2 0 broad.mit.edu 37 11 3427885 3427885 + RNA SNP A A G TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr11:3427885A>G ENST00000529482.1 + 0 1002 AGCTTCACAGATCCACCGCTG 0.587000 6 92 0 0 1 0 0 RASGEF1C 255426 broad.mit.edu 37 5 179538479 179538479 + Silent SNP G G A TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr5:179538479G>A ENST00000393371.2 - 11 1577 c.1281C>T c.(1279-1281)acC>acT p.T427T RASGEF1C_ENST00000522500.1_Silent_p.T276T|RASGEF1C_ENST00000361132.4_Silent_p.T427T Q8N431 RGF1C_HUMAN RasGEF domain family, member 1C 427 Ras-GEF. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular guanyl-nucleotide exchange factor activity breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1) 12 all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137) all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) AGATGGGGGCGGTGTACAGGT 0.592000 44 150 0 0 1 0 0 SLIT1 6585 broad.mit.edu 37 10 98816094 98816094 + Missense_Mutation SNP G G A TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr10:98816094G>A ENST00000266058.4 - 13 1530 c.1285C>T c.(1285-1287)Cgg>Tgg p.R429W ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.R429W NM_003061.2 NP_003052.2 O75093 SLIT1_HUMAN slit homolog 1 (Drosophila) 429 axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis cytoplasm|extracellular space calcium ion binding|Roundabout binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 78 Colorectal(252;0.162) Epithelial(162;2.02e-08)|all cancers(201;1.5e-06) TGGATGGCCCGCAGGGAGGTG 0.622000 6 362 0 0 1 0 0 NHLRC4 283948 broad.mit.edu 37 16 618370 618370 + Missense_Mutation SNP C C A TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr16:618370C>A ENST00000424439.2 + 2 980 c.323C>A c.(322-324)gCc>gAc p.A108D NHLRC4_ENST00000540585.1_Missense_Mutation_p.A108D|PIGQ_ENST00000409527.2_Intron P0CG21 NHLC4_HUMAN NHL repeat containing 4 108 GTGGCTGATGCCAAGGACAAC 0.667000 4 98 1 1 1 1 0 NEUROD6 63974 broad.mit.edu 37 7 31377972 31377972 + Missense_Mutation SNP G G A TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr7:31377972G>A ENST00000297142.3 - 2 1233 c.911C>T c.(910-912)gCc>gTc p.A304V NM_022728.2 NP_073565.2 Q96NK8 NDF6_HUMAN neuronal differentiation 6 304 cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 32 CCTGAACATGGCACCCTGCCC 0.468000 5 234 0 0 1 0 0 FAM86JP 0 broad.mit.edu 37 3 125647396 125647396 + RNA SNP T T C TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr3:125647396T>C ENST00000485843.1 + 0 541 NR_024251.1 TGTTTCCCTATGAAGAGCACT 0.502000 12 507 0 0 1 0 0 KLK13 26085 broad.mit.edu 37 19 51561826 51561826 + Missense_Mutation SNP C C T TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr19:51561826C>T ENST00000595793.1 - 4 656 c.614G>A c.(613-615)gGc>gAc p.G205D KLK13_ENST00000335422.3_Missense_Mutation_p.G53D|KLK13_ENST00000595547.1_Missense_Mutation_p.G132D NM_015596.1 NP_056411.1 Q9UKR3 KLK13_HUMAN kallikrein-related peptidase 13 205 Peptidase S1. proteolysis protein binding|serine-type endopeptidase activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|skin(1) 16 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432) CTCTTTTGTGCCGGCACACAA 0.527000 6 490 0 0 1 0 0 AGO2 27161 broad.mit.edu 37 8 141554316 141554316 + Missense_Mutation SNP G G A TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr8:141554316G>A ENST00000220592.5 - 14 1947 c.1835C>T c.(1834-1836)gCc>gTc p.A612V AGO2_ENST00000519980.1_Missense_Mutation_p.A612V NM_012154.3 NP_036286.2 argonaute RISC catalytic component 2 ACTCACGGCGGCAATGGAGGG 0.632000 6 966 0 0 1 0 0 KRTAP4-6 81871 broad.mit.edu 37 17 39296282 39296282 + Missense_Mutation SNP G G T TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr17:39296282G>T ENST00000345847.4 - 1 457 c.458C>A c.(457-459)tCt>tAt p.S153Y NM_030976.1 NP_112238.1 Q9BYQ5 KRA46_HUMAN keratin associated protein 4-6 149 29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP]. keratin filament endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1) 9 ttcacagcaagaggggcggca 0.662000 4 113 0.014758 0.01565 1 1 0 SRCAP 10847 broad.mit.edu 37 16 30715613 30715613 + Missense_Mutation SNP G G A TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr16:30715613G>A ENST00000262518.4 + 4 668 c.283G>A c.(283-285)Gaa>Aaa p.E95K SRCAP_ENST00000395059.2_Missense_Mutation_p.E95K|SRCAP_ENST00000344771.4_Missense_Mutation_p.E95K NM_006662.2 NP_006653.2 Q6ZRS2 SRCAP_HUMAN Snf2-related CREBBP activator protein 95 interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 136 Colorectal(24;0.198) GAGCCATGCCGAAATTGCAGA 0.522000 5 494 0 0 1 0 0 UPF3A 65110 broad.mit.edu 37 13 115047559 115047559 + Silent SNP C C T TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr13:115047559C>T ENST00000375299.3 + 2 327 c.271C>T c.(271-273)Ctg>Ttg p.L91L UPF3A_ENST00000351487.5_Silent_p.L91L NM_023011.3 NP_075387.1 Q9H1J1 REN3A_HUMAN UPF3 regulator of nonsense transcripts homolog A (yeast) 91 Required for interaction with UPF2. mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation cytoplasm|nucleus|plasma membrane nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding p.L91L(8) autonomic_ganglia(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 16 Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238) BRCA - Breast invasive adenocarcinoma(86;0.0886) OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2) GCTGCGCCCGCTGCCAGCACA 0.731000 3 27 0 0 1 0 0 KCNC1 3746 broad.mit.edu 37 11 17757790 17757790 + Missense_Mutation SNP G G A TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr11:17757790G>A ENST00000379472.3 + 1 271 c.241G>A c.(241-243)Gac>Aac p.D81N KCNC1_ENST00000265969.6_Missense_Mutation_p.D81N NM_004976.4 NP_004967.1 P48547 KCNC1_HUMAN potassium voltage-gated channel, Shaw-related subfamily, member 1 81 voltage-gated potassium channel complex voltage-gated potassium channel activity breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 33 CTGCCCAGCCGACGTGTGCGG 0.662000 5 238 0 0 1 0 0 FANK1 92565 broad.mit.edu 37 10 127585212 127585212 + Translation_Start_Site SNP A A T rs145156460 by1000genomes TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr10:127585212A>T ENST00000368695.1 + 0 105 FANK1_ENST00000449042.2_De_novo_Start_InFrame|FANK1_ENST00000368693.1_Start_Codon_SNP_p.M1L NM_145235.3 NP_660278.3 Q8TC84 FANK1_HUMAN fibronectin type III and ankyrin repeat domains 1 cytoplasm|nucleus p.M1L(1) central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1) 21 all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936) GCAGCCGACCATGGAGCCCCA 0.761000 5 68 0 0 1 0 0 ARMC7 79637 broad.mit.edu 37 17 73125037 73125037 + Missense_Mutation SNP C C A TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr17:73125037C>A ENST00000245543.1 + 3 803 c.501C>A c.(499-501)ttC>ttA p.F167L ARMC7_ENST00000579096.1_3'UTR|ARMC7_ENST00000581078.1_3'UTR NM_024585.2 NP_078861.1 Q9H6L4 ARMC7_HUMAN armadillo repeat containing 7 167 binding p.F167F(1) breast(2)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|pancreas(3) 9 all_lung(278;0.14)|Lung NSC(278;0.168) LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235) TGGAGGACTTCTGCTCCCCCC 0.701000 18 76 2.5808e-16 2.9826e-16 1 1 0 KLC4 89953 broad.mit.edu 37 6 43039979 43039979 + Silent SNP C C A rs145201350 by1000genomes TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr6:43039979C>A ENST00000394056.2 + 13 1969 c.1474C>A c.(1474-1476)Cgg>Agg p.R492R KLC4_ENST00000479388.1_Silent_p.R492R|KLC4_ENST00000394058.1_Silent_p.R492R|KLC4_ENST00000347162.5_Silent_p.R492R|KLC4_ENST00000259708.3_Silent_p.R510R|KLC4_ENST00000453940.2_Silent_p.R415R Q9NSK0 KLC4_HUMAN kinesin light chain 4 492 cytoplasm|kinesin complex|microtubule microtubule motor activity|protein binding endometrium(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(4) 23 all cancers(41;0.00169)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0376)|KIRC - Kidney renal clear cell carcinoma(2;0.0453) ATGTGCCCTGCGGTCCCGGAG 0.602000 4 190 0.150653 0.158022 1 1 0 RUSC2 9853 broad.mit.edu 37 9 35555589 35555589 + Missense_Mutation SNP T T A TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr9:35555589T>A ENST00000455600.1 + 3 3116 c.2547T>A c.(2545-2547)caT>caA p.H849Q NM_001135999.1 NP_001129471.1 Q8N2Y8 RUSC2_HUMAN RUN and SH3 domain containing 2 849 cytosol NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194) ACCGGCTCCATGGAACAGGAA 0.647000 82 243 0 0 1 0 0 C9orf106 414318 broad.mit.edu 37 9 132084600 132084600 + RNA SNP C C A TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr9:132084600C>A ENST00000316786.1 + 0 561 Q8NAJ2 CI106_HUMAN chromosome 9 open reading frame 106 large_intestine(1)|lung(1)|ovary(1)|skin(1) 4 Ovarian(14;0.00556)|Medulloblastoma(224;0.235) TGGCTCTGCCCTCAGAGCACT 0.612000 45 143 5.20006e-24 6.11958e-24 1 1 0 CNTN3 5067 broad.mit.edu 37 3 74351867 74351867 + Nonsense_Mutation SNP G G T TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr3:74351867G>T ENST00000263665.6 - 13 1787 c.1760C>A c.(1759-1761)tCa>tAa p.S587* NM_020872.1 NP_065923.1 Q9P232 CNTN3_HUMAN contactin 3 (plasmacytoma associated) 587 Ig-like C2-type 6. cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 83 Lung NSC(201;0.138)|Lung SC(41;0.21) Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01) AGCAGCAGATGAAACACTGTC 0.418000 26 80 6.32553e-13 7.26683e-13 1 1 0 PCDHA4 0 broad.mit.edu 37 5 140188813 140188813 + Missense_Mutation SNP C C T TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr5:140188813C>T ENST00000530339.1 + 1 2041 c.2041C>T c.(2041-2043)Cgg>Tgg p.R681W PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.R681W|PCDHA4_ENST00000356878.4_Missense_Mutation_p.R681W NM_018907.2 NP_061730.1 breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGCCTCCTCACGGGCGTTGGT 0.632000 59 226 0 0 1 0 0 PRG4 10216 broad.mit.edu 37 1 186276027 186276027 + Silent SNP T T C TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr1:186276027T>C ENST00000445192.2 + 7 1221 c.1176T>C c.(1174-1176)acT>acC p.T392T PRG4_ENST00000367483.4_Silent_p.T351T|PRG4_ENST00000367484.3_Silent_p.T351T|PRG4_ENST00000367486.3_Silent_p.T349T|PRG4_ENST00000367485.4_Silent_p.T299T NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 392 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 CACCCACCACTCCCAAGGAGC 0.637000 8 500 0 0 1 0 0 SLC25A6 293 broad.mit.edu 37 X 1505518 1505518 + Missense_Mutation SNP C C A TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chrX:1505518C>A ENST00000381401.5 - 4 1588 c.874G>T c.(874-876)Gac>Tac p.D292Y NM_001636.3 NP_001627.2 P12236 ADT3_HUMAN solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6 292 active induction of host immune response by virus|apoptosis|energy reserve metabolic process|regulation of insulin secretion|viral infectious cycle integral to membrane|mitochondrial inner membrane presequence translocase complex ATP:ADP antiporter activity|protein binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|upper_aerodigestive_tract(1) 11 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) Clodronate(DB00720) TTGAGCTCGTCGTACAGGACC 0.607000 6 607 4.096e-09 4.59609e-09 1 1 0 TSSC2 0 broad.mit.edu 37 11 3427759 3427759 + RNA SNP C C T TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr11:3427759C>T ENST00000529482.1 + 0 876 TGTCTGCACACGTCCTGCAGT 0.612000 5 186 0 0 1 0 0 GPX1 2876 broad.mit.edu 37 3 49395482 49395482 + Missense_Mutation SNP G G C TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr3:49395482G>C ENST00000419783.1 - 1 551 c.230C>G c.(229-231)cCg>cGg p.P77R GPX1_ENST00000496791.1_5'UTR|GPX1_ENST00000419349.1_Missense_Mutation_p.P77R NM_000581.2 NP_000572.2 P07203 GPX1_HUMAN glutathione peroxidase 1 77 anti-apoptosis|cell redox homeostasis|glutathione metabolic process|heart contraction|hydrogen peroxide catabolic process|negative regulation of caspase activity|purine base metabolic process|purine nucleotide catabolic process|regulation of gene expression, epigenetic|regulation of mammary gland epithelial cell proliferation|regulation of proteasomal protein catabolic process|release of cytochrome c from mitochondria|response to selenium ion|UV protection cytosol|mitochondrion endopeptidase inhibitor activity|glutathione peroxidase activity|SH3 domain binding breast(1)|large_intestine(2)|lung(1) 4 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) Glutathione(DB00143) CTGGTTGCACGGGAAGCCGAG 0.726000 5 126 0 0 1 0 0 SMU1 55234 broad.mit.edu 37 9 33068870 33068870 + Silent SNP G G A rs113018466 byFrequency TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr9:33068870G>A ENST00000397149.3 - 4 503 c.453C>T c.(451-453)ggC>ggT p.G151G SMU1_ENST00000536631.1_5'UTR NM_018225.2 NP_060695.2 Q2TAY7 SMU1_HUMAN smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans) 151 cytoplasm|nucleus endometrium(2)|lung(4)|ovary(2)|prostate(1) 9 LUSC - Lung squamous cell carcinoma(29;0.0227) GBM - Glioblastoma multiforme(74;0.11) CACTGACTTCGCCAGCTAAGG 0.507000 4 188 0 0 1 0 0 CNTN3 5067 broad.mit.edu 37 3 74351868 74351868 + Missense_Mutation SNP A A T TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr3:74351868A>T ENST00000263665.6 - 13 1786 c.1759T>A c.(1759-1761)Tca>Aca p.S587T NM_020872.1 NP_065923.1 Q9P232 CNTN3_HUMAN contactin 3 (plasmacytoma associated) 587 Ig-like C2-type 6. cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 83 Lung NSC(201;0.138)|Lung SC(41;0.21) Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01) GCAGCAGATGAAACACTGTCC 0.418000 26 81 0 0 1 0 0 NUP62 23636 broad.mit.edu 37 19 50412865 50412865 + Missense_Mutation SNP G G A TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr19:50412865G>A ENST00000596217.1 - 2 2087 c.200C>T c.(199-201)cCg>cTg p.P67L IL4I1_ENST00000595948.1_Intron|NUP62_ENST00000597029.1_Missense_Mutation_p.P67L|NUP62_ENST00000597723.1_Missense_Mutation_p.P67L|NUP62_ENST00000352066.3_Missense_Mutation_p.P67L|CTC-326K19.6_ENST00000451973.1_3'UTR|NUP62_ENST00000413454.1_Missense_Mutation_p.P67L|IL4I1_ENST00000341114.3_Intron|NUP62_ENST00000422090.2_Missense_Mutation_p.P67L P37198 NUP62_HUMAN nucleoporin 62kDa 67 15 X 9 AA approximate repeats.|Thr-rich. carbohydrate metabolic process|cell death|cell surface receptor linked signaling pathway|glucose transport|hormone-mediated signaling pathway|mRNA transport|negative regulation of apoptosis|negative regulation of cell proliferation|nucleocytoplasmic transport|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|protein transport|regulation of glucose transport|transcription, DNA-dependent|transmembrane transport|viral reproduction cytoplasm|nuclear membrane|nuclear pore|nucleocytoplasmic shuttling complex|ribonucleoprotein complex|spindle pole chromatin binding|protein serine/threonine kinase activity|receptor signaling complex scaffold activity|SH2 domain binding|structural constituent of nuclear pore|thyroid hormone receptor binding|ubiquitin binding breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2) 19 all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481) GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177) CTGTGTGGCCGGAGTCTGGGT 0.552000 6 610 0 0 1 0 0 TUBGCP6 85378 broad.mit.edu 37 22 50659293 50659293 + Silent SNP G G A TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr22:50659293G>A ENST00000439308.2 - 16 3987 c.3495C>T c.(3493-3495)tcC>tcT p.S1165S TUBGCP6_ENST00000491449.1_5'UTR|TUBGCP6_ENST00000248846.5_Silent_p.S1165S NM_020461.3 NP_065194.2 Q96RT7 GCP6_HUMAN tubulin, gamma complex associated protein 6 1165 9 X 27 AA tandem repeats. G2/M transition of mitotic cell cycle|microtubule nucleation centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole microtubule binding p.S1165S(2) breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2) 45 all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21) TGCTGGCATCGGACACGTGTC 0.637000 5 353 0 0 1 0 0 WNT4 54361 broad.mit.edu 37 1 22446807 22446807 + Silent SNP C C T TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr1:22446807C>T ENST00000290167.6 - 5 835 c.792G>A c.(790-792)ccG>ccA p.P264P WNT4_ENST00000542383.1_Silent_p.P209P NM_030761.4 NP_110388.2 P56705 WNT4_HUMAN wingless-type MMTV integration site family, member 4 264 adrenal gland development|androgen biosynthetic process|anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|dermatome development|endoderm development|epithelial to mesenchymal transition|establishment of protein localization in plasma membrane|female gonad development|female sex determination|liver development|male gonad development|mesonephric tubule development|metanephric mesenchymal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of male gonad development|negative regulation of testicular blood vessel morphogenesis|negative regulation of testosterone biosynthetic process|negative regulation of transcription, DNA-dependent|oocyte development|paramesonephric duct development|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of collagen biosynthetic process|positive regulation of cortisol biosynthetic process|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|protein palmitoylation|renal vesicle formation|smooth muscle cell differentiation|somatotropin secreting cell differentiation|tertiary branching involved in mammary gland duct morphogenesis|thyroid-stimulating hormone-secreting cell differentiation|Wnt receptor signaling pathway, calcium modulating pathway cell surface|extracellular space|Golgi apparatus|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|signal transducer activity|transcription corepressor activity p.P264P(1) breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2) 8 Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;9.02e-26)|Colorectal(126;1.71e-07)|COAD - Colon adenocarcinoma(152;1.17e-05)|GBM - Glioblastoma multiforme(114;2.01e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000568)|KIRC - Kidney renal clear cell carcinoma(1967;0.00277)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138) CATCTGTGTGCGGCTTGAACT 0.632000 5 452 0 0 1 0 0 PRG4 10216 broad.mit.edu 37 1 186276169 186276169 + Missense_Mutation SNP C C A TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr1:186276169C>A ENST00000445192.2 + 7 1363 c.1318C>A c.(1318-1320)Ccc>Acc p.P440T PRG4_ENST00000367483.4_Missense_Mutation_p.P399T|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_Missense_Mutation_p.P397T|PRG4_ENST00000367485.4_Missense_Mutation_p.P347T NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 440 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity p.P440T(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 ACCCACCACCCCCAAGAAGCC 0.652000 7 361 0.00198382 0.00213898 1 1 0 ASTN1 460 broad.mit.edu 37 1 176926840 176926840 + Missense_Mutation SNP G G A TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr1:176926840G>A ENST00000367654.2 - 11 1898 c.1885C>T c.(1885-1887)Cgc>Tgc p.R629C ASTN1_ENST00000424564.2_Missense_Mutation_p.R621C|ASTN1_ENST00000367657.3_Missense_Mutation_p.R621C|ASTN1_ENST00000361833.2_Missense_Mutation_p.R621C|ASTN1_ENST00000281881.3_5'UTR O14525 ASTN1_HUMAN astrotactin 1 629 EGF-like 2. cell migration|neuron cell-cell adhesion integral to membrane NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 TCCAGCTTGCGATCTGAAATA 0.537000 67 171 0 0 1 0 0 SNAPC4 6621 broad.mit.edu 37 9 139272186 139272186 + Missense_Mutation SNP G G A TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr9:139272186G>A ENST00000298532.2 - 21 4461 c.4093C>T c.(4093-4095)Cgg>Tgg p.R1365W NM_003086.2 NP_003077.2 Q5SXM2 SNPC4_HUMAN small nuclear RNA activating complex, polypeptide 4, 190kDa 1365 SNAPC2-binding. snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter snRNA-activating protein complex DNA binding|sequence-specific DNA binding transcription factor activity biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1) 33 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06) AACCGCGCCCGCAACAGGAGG 0.726000 4 123 0 0 1 0 0 GADL1 339896 broad.mit.edu 37 3 30875345 30875345 + Splice_Site SNP A A T TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr3:30875345A>T ENST00000454381.3 - 11 1096 c.1050_splice c.e11+1 p.S350_splice GADL1_ENST00000282538.5_Splice_Site_p.S350_splice Q6ZQY3 GADL1_HUMAN glutamate decarboxylase-like 1 350 carboxylic acid metabolic process carboxy-lyase activity|pyridoxal phosphate binding breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1) 25 Pyridoxal Phosphate(DB00114) GAAAACTTACAGATTTGTCTT 0.502000 32 125 0 0 1 0 0 SEPHS2 22928 broad.mit.edu 37 16 30456111 30456111 + Missense_Mutation SNP G G A TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr16:30456111G>A ENST00000478753.2 - 1 1391 c.938C>T c.(937-939)gCg>gTg p.A313V SEPHS2_ENST00000542752.1_Missense_Mutation_p.A256V|SEPHS2_ENST00000500504.2_Missense_Mutation_p.A313V Q99611 SPS2_HUMAN selenophosphate synthetase 2 313 selenocysteine biosynthetic process ATP binding|selenide, water dikinase activity breast(3)|cervix(1)|kidney(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1) 10 ATCTGTGGCCGCATGGGCATT 0.448000 5 357 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577094 7577094 + Missense_Mutation SNP G G A rs28934574 TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr17:7577094G>A ENST00000420246.2 - 8 976 c.844C>T c.(844-846)Cgg>Tgg p.R282W TP53_ENST00000455263.2_Missense_Mutation_p.R282W|TP53_ENST00000359597.4_Missense_Mutation_p.R282W|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.R282W|TP53_ENST00000445888.2_Missense_Mutation_p.R282W NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 282 Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity). DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934574). 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.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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) TCTGTGCGCCGGTCTCTCCCA 0.557000 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) 44 82 0 0 1 0 0 SLC45A2 51151 broad.mit.edu 37 5 33984521 33984521 + Silent SNP C C G TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr5:33984521C>G ENST00000382102.3 - 1 225 c.168G>C c.(166-168)gtG>gtC p.V56V SLC45A2_ENST00000342059.3_Silent_p.V56V|SLC45A2_ENST00000296589.4_Silent_p.V56V|SLC45A2_ENST00000509381.1_Silent_p.V56V|SLC45A2_ENST00000345083.5_Silent_p.V56V NM_001012509.2 NP_001012527.1 Q9UMX9 S45A2_HUMAN solute carrier family 45, member 2 56 melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception integral to membrane|melanosome membrane breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 48 GGACTGGGGTCACATACGCTG 0.592000 16 52 0 0 1 0 0 ANKRD20A8P 0 broad.mit.edu 37 2 95522772 95522772 + RNA SNP T T C TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr2:95522772T>C ENST00000432432.2 - 0 255 NR_040113.1 p.E49G(1) GCGCTCCACCTCCGCGGCGTC 0.682000 4 231 0 0 1 0 0 PRG4 10216 broad.mit.edu 37 1 186275982 186275982 + Silent SNP C C T TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr1:186275982C>T ENST00000445192.2 + 7 1176 c.1131C>T c.(1129-1131)acC>acT p.T377T PRG4_ENST00000367483.4_Silent_p.T336T|PRG4_ENST00000367484.3_Silent_p.T336T|PRG4_ENST00000367486.3_Silent_p.T334T|PRG4_ENST00000367485.4_Silent_p.T284T NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 377 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 CACCCACCACCCCCAAGGAGC 0.637000 11 608 0 0 1 0 0 KIR3DL1 3811 broad.mit.edu 37 19 55333120 55333120 + Missense_Mutation SNP G G A TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr19:55333120G>A ENST00000391728.4 + 5 789 c.756G>A c.(754-756)atG>atA p.M252I KIR3DL1_ENST00000358178.4_Missense_Mutation_p.M157I|KIR3DL1_ENST00000538269.1_Missense_Mutation_p.M252I|KIR3DL1_ENST00000326542.7_Missense_Mutation_p.M252I|KIR3DL1_ENST00000402254.2_Missense_Mutation_p.M252I|KIR3DL1_ENST00000541392.1_Missense_Mutation_p.M252I NM_013289.2 NP_037421.2 killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 11 GBM - Glioblastoma multiforme(193;0.0192) CCTATGACATGTACCATCTAT 0.587000 55 100 0 0 1 0 0 OR2G6 391211 broad.mit.edu 37 1 248685733 248685733 + Silent SNP G G A TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr1:248685733G>A ENST00000343414.4 + 1 818 c.786G>A c.(784-786)ccG>ccA p.P262P NM_001013355.1 NP_001013373.1 Q5TZ20 OR2G6_HUMAN olfactory receptor, family 2, subfamily G, member 6 262 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0156) OV - Ovarian serous cystadenocarcinoma(106;0.0265) ACCTTCAACCGGCCAATAGGA 0.448000 5 283 0 0 1 0 0 SH2D2A 9047 broad.mit.edu 37 1 156777073 156777073 + Missense_Mutation SNP T T G TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr1:156777073T>G ENST00000392306.2 - 8 1236 c.1097A>C c.(1096-1098)cAc>cCc p.H366P SH2D2A_ENST00000368198.3_Missense_Mutation_p.H338P|SH2D2A_ENST00000368199.3_Missense_Mutation_p.H356P NM_001161441.1 NP_001154913.1 Q9NP31 SH22A_HUMAN SH2 domain containing 2A 356 Pro-rich. angiogenesis|cell differentiation|signal transduction cytoplasm|soluble fraction SH3 domain binding|SH3/SH2 adaptor activity endometrium(1)|large_intestine(2)|lung(15) 18 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) TGGGGGCTGGTGGGGCAGGGG 0.597000 8 61 0 0 1 0 0 ZNF780A 284323 broad.mit.edu 37 19 40581529 40581529 + Missense_Mutation SNP C C T TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr19:40581529C>T ENST00000450241.2 - 6 1029 c.718G>A c.(718-720)Gta>Ata p.V240I ZNF780A_ENST00000455521.1_Missense_Mutation_p.V275I|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000340963.5_Missense_Mutation_p.V274I|ZNF780A_ENST00000595687.2_Missense_Mutation_p.V274I|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000594395.1_Missense_Mutation_p.V275I O75290 Z780A_HUMAN zinc finger protein 780A 274 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1) 31 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) TATGGTTTTACACCAGAATGA 0.388000 8 1077 0 0 1 0 0 LSR 51599 broad.mit.edu 37 19 35753550 35753550 + Missense_Mutation SNP G G A TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr19:35753550G>A ENST00000602122.1 + 4 1307 c.820G>A c.(820-822)Gtc>Atc p.V274I LSR_ENST00000361790.3_Missense_Mutation_p.V293I|LSR_ENST00000354900.3_Missense_Mutation_p.V274I|LSR_ENST00000597933.1_3'UTR|LSR_ENST00000360798.3_Intron|LSR_ENST00000347609.4_Missense_Mutation_p.V256I|LSR_ENST00000427250.1_Intron Q86X29 LSR_HUMAN lipolysis stimulated lipoprotein receptor 293 embryo development|liver development chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle receptor activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 13 all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162) Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417) CTGCTGCTACGTCAGGTGCCC 0.627000 74 343 0 0 1 0 0 SORL1 6653 broad.mit.edu 37 11 121428026 121428026 + Missense_Mutation SNP G G A TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr11:121428026G>A ENST00000260197.7 + 19 2704 c.2575G>A c.(2575-2577)Gct>Act p.A859T NM_003105.5 NP_003096.1 Q92673 SORL_HUMAN sortilin-related receptor, L(DLR class) A repeats containing 859 cholesterol metabolic process|lipid transport|receptor-mediated endocytosis integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|transmembrane receptor activity NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2) 91 Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113) BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108) TTGTCAGGTAGCTAATCCAGA 0.532000 76 233 0 0 1 0 0 JPH1 56704 broad.mit.edu 37 8 75227310 75227310 + Missense_Mutation SNP C C T TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr8:75227310C>T ENST00000342232.4 - 2 965 c.925G>A c.(925-927)Gca>Aca p.A309T NM_020647.2 NP_065698.1 Q9HDC5 JPH1_HUMAN junctophilin 1 309 calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 24 Breast(64;0.00576) BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176) TTGTTATTTGCCCACTCCCCT 0.502000 5 456 0 0 1 0 0 CACNA1I 8911 broad.mit.edu 37 22 40042649 40042649 + Missense_Mutation SNP C C T TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr22:40042649C>T ENST00000336649.4 + 10 1225 c.1225C>T c.(1225-1227)Cac>Tac p.H409Y CACNA1I_ENST00000407673.1_Missense_Mutation_p.H409Y|CACNA1I_ENST00000404898.1_Missense_Mutation_p.H409Y|CACNA1I_ENST00000402142.3_Missense_Mutation_p.H409Y|CACNA1I_ENST00000400164.3_Missense_Mutation_p.H409Y|CACNA1I_ENST00000401624.1_Missense_Mutation_p.H409Y Q9P0X4 CAC1I_HUMAN calcium channel, voltage-dependent, T type, alpha 1I subunit 409 axon guidance|signal transduction voltage-gated calcium channel complex low voltage-gated calcium channel activity|protein binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Melanoma(58;0.0749) Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661) GCAACGGGAGCACCGGCTGAT 0.607000 6 22 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179453342 179453342 + Missense_Mutation SNP C C A TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr2:179453342C>A ENST00000589042.1 - 304 63334 c.63110G>T c.(63109-63111)cGt>cTt p.R21037L TTN_ENST00000342992.6_Missense_Mutation_p.R18469L|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R11972L|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R12097L|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R12164L|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R19396L|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 19396 Fibronectin type-III 52. 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) TGCCTTGACACGGAACTGATA 0.458000 5 537 0.184627 0.191576 1 1 0 ANAPC1 64682 broad.mit.edu 37 2 112608394 112608394 + Missense_Mutation SNP T T C TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr2:112608394T>C ENST00000341068.3 - 14 2381 c.1609A>G c.(1609-1611)Act>Gct p.T537A NM_022662.3 NP_073153.1 Q9H1A4 APC1_HUMAN anaphase promoting complex subunit 1 537 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm p.T537A(5) NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 49 GGCTTTGGAGTACTAACGCCA 0.433000 4 323 0 0 1 0 0 TARBP2 6895 broad.mit.edu 37 12 53895234 53895234 + Silent SNP C C T TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr12:53895234C>T ENST00000266987.2 + 1 525 c.42C>T c.(40-42)tgC>tgT p.C14C TARBP2_ENST00000552857.1_Silent_p.C14C|TARBP2_ENST00000456234.2_Intron NM_134323.1 NP_599150.1 Q15633 TRBP2_HUMAN TAR (HIV-1) RNA binding protein 2 14 miRNA loading onto RISC involved in gene silencing by miRNA|negative regulation of defense response to virus by host|negative regulation of protein kinase activity|positive regulation of viral genome replication|pre-miRNA processing|production of siRNA involved in RNA interference|regulation of transcription from RNA polymerase II promoter|regulation of translation|regulation of viral transcription|targeting of mRNA for destruction involved in RNA interference cytosol|nucleus|perinuclear region of cytoplasm|RNA-induced silencing complex double-stranded RNA binding|protein homodimerization activity|siRNA binding central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3) 10 CCACGGGCTGCGGGCTGCCTA 0.687000 3 26 0 0 1 0 0 LCN9 392399 broad.mit.edu 37 9 138557549 138557549 + Silent SNP C C T TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr9:138557549C>T ENST00000277526.3 + 5 426 c.426C>T c.(424-426)tgC>tgT p.C142C LCN9_ENST00000430290.2_3'UTR NM_001001676.1 NP_001001676.1 Q8WX39 LCN9_HUMAN lipocalin 9 142 extracellular region pheromone binding|transporter activity kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1) 6 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;3.43e-07)|Epithelial(140;1.97e-06)|all cancers(34;6.1e-05) AAGAAACCTGCGAAAAGTACG 0.572000 16 61 0 0 1 0 0 CARM1 10498 broad.mit.edu 37 19 11022906 11022906 + Missense_Mutation SNP C C T TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr19:11022906C>T ENST00000327064.4 + 5 795 c.605C>T c.(604-606)gCc>gTc p.A202V CARM1_ENST00000344150.4_Missense_Mutation_p.A202V NM_199141.1 NP_954592.1 Q86X55 CARM1_HUMAN coactivator-associated arginine methyltransferase 1 202 cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleoplasm beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding p.A202V(2) breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1) 13 TCGTTTTTTGCCGCCCAAGCT 0.622000 7 1030 0 0 1 0 0 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C T rs121913529 TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr12:25398284C>T ENST00000311936.3 - 2 226 c.35G>A c.(34-36)gGt>gAt p.G12D KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 12 G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) GCCTACGCCACCAGCTCCAAC 0.348000 G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 11 61 0 0 1 0 0 F5 2153 broad.mit.edu 37 1 169510405 169510405 + Missense_Mutation SNP C C A TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr1:169510405C>A ENST00000367796.3 - 13 4139 c.3938G>T c.(3937-3939)aGt>aTt p.S1313I F5_ENST00000367797.3_Missense_Mutation_p.S1308I P12259 FA5_HUMAN coagulation factor V (proaccelerin, labile factor) 1308 35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1) 128 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) GTTTGTCTGACTGAGTTCTGG 0.512000 7 1153 0.000274275 0.000297388 1 1 0 TUBB8P7 0 broad.mit.edu 37 16 90161926 90161926 + RNA SNP T T C rs8061283 by1000genomes TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr16:90161926T>C ENST00000567960.1 + 0 662 TUBB8P7_ENST00000564451.1_RNA p.I221T(3) CCCACACCCATCTATGGTGAC 0.527000 15 116 0 0 1 0 0 KDM4C 23081 broad.mit.edu 37 9 7174680 7174680 + Missense_Mutation SNP G G A TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr9:7174680G>A ENST00000381309.3 + 22 3687 c.3122G>A c.(3121-3123)cGc>cAc p.R1041H KDM4C_ENST00000428870.2_Missense_Mutation_p.R728H|KDM4C_ENST00000442236.2_Missense_Mutation_p.R786H NM_015061.3 NP_055876.2 Q9H3R0 KDM4C_HUMAN lysine (K)-specific demethylase 4C 1041 positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent nuclear chromatin androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 43 CCTGTATACCGCACTTTTTTG 0.478000 5 566 0 0 1 0 0 ERVW-1 0 broad.mit.edu 37 7 92099544 92099544 + Missense_Mutation SNP G G A TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr7:92099544G>A ENST00000493463.2 - 1 1075 c.152C>T c.(151-153)tCg>tTg p.S51L ERVW-1_ENST00000604270.1_Intron|ERVW-1_ENST00000603053.1_Missense_Mutation_p.S51L|AC007566.10_ENST00000427458.1_RNA NM_014590.3 NP_055405.3 Q9UQF0 ENW1_HUMAN 51 syncytium formation integral to membrane|plasma membrane|virion endometrium(1)|large_intestine(1)|lung(15) 17 actcctatacgatggggcatc 0.522000 7 587 0 0 1 0 0 TROAP 10024 broad.mit.edu 37 12 49724313 49724313 + Missense_Mutation SNP G G T TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr12:49724313G>T ENST00000551245.1 + 13 1796 c.1685G>T c.(1684-1686)aGt>aTt p.S562I TROAP_ENST00000257909.3_Missense_Mutation_p.S562I|TROAP_ENST00000547923.1_Missense_Mutation_p.S270I Q12815 TROAP_HUMAN trophinin associated protein 562 4 X 33 AA approximate tandem repeats.|Cys-rich. cell adhesion cytoplasm p.S562I(1) breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 32 TGCTGTAGGAGTGAGCCTGAG 0.592000 6 311 0.217242 0.224213 1 1 0 ASL 435 broad.mit.edu 37 7 65557066 65557066 + Missense_Mutation SNP G G A TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr7:65557066G>A ENST00000304874.9 + 15 1238 c.1136G>A c.(1135-1137)cGc>cAc p.R379H ASL_ENST00000395332.3_Missense_Mutation_p.R379H|ASL_ENST00000464970.1_3'UTR|ASL_ENST00000395331.3_Missense_Mutation_p.R359H|AC068533.7_ENST00000450043.1_Silent_p.P147P|ASL_ENST00000380839.4_Missense_Mutation_p.R353H NM_000048.3 NP_000039.2 P04424 ARLY_HUMAN argininosuccinate lyase 379 R -> C (in ARGINSA; dbSNP:rs28940287). arginine biosynthetic process via ornithine|arginine catabolic process|urea cycle cytosol argininosuccinate lyase activity p.R379L(1) breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1) 18 L-Arginine(DB00125) TACCTGGTCCGCAAAGGGGTA 0.637000 5 472 0 0 1 0 0 LINC00969 0 broad.mit.edu 37 3 195400728 195400728 + RNA SNP A A G rs12107841 by1000genomes TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr3:195400728A>G ENST00000445430.1 + 0 1324 GATTGTGCCCAGCCTGTACGC 0.587000 4 93 0 0 1 0 0 DNAH11 8701 broad.mit.edu 37 7 21657266 21657266 + Silent SNP C C A TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr7:21657266C>A ENST00000328843.6 + 23 4171 c.4140C>A c.(4138-4140)cgC>cgA p.R1380R DNAH11_ENST00000409508.3_Silent_p.R1375R Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 1380 Stem (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 AGGAAGTCCGCGTCTGGGATG 0.483000 Kartagener syndrome 23 90 4.7796e-09 5.33216e-09 1 1 0 PYROXD2 84795 broad.mit.edu 37 10 100155147 100155147 + Splice_Site SNP C C A TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr10:100155147C>A ENST00000370575.4 - 7 736 c.e7+1 PYROXD2_ENST00000483923.1_Splice_Site NM_032709.2 NP_116098.2 Q8N2H3 PYRD2_HUMAN pyridine nucleotide-disulphide oxidoreductase domain 2 oxidoreductase activity central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 12 GAACCACTCACCTTGGTAATG 0.577000 7 858 1.26484e-09 1.42757e-09 1 1 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274291 39274291 + Missense_Mutation SNP T T C rs149439944 by1000genomes TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr17:39274291T>C ENST00000391413.2 - 1 315 c.277A>G c.(277-279)Atg>Gtg p.M93V NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 93 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. keratin filament p.M93V(4) endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) TGGCAGCACATAGACTGGCAG 0.662000 13 205 0 0 1 0 0 TMTC2 160335 broad.mit.edu 37 12 83289748 83289748 + Missense_Mutation SNP G G A TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr12:83289748G>A ENST00000549919.1 + 4 2593 c.788G>A c.(787-789)cGc>cAc p.R263H TMTC2_ENST00000548305.1_Missense_Mutation_p.R269H|TMTC2_ENST00000321196.3_Missense_Mutation_p.R269H Q8N394 TMTC2_HUMAN transmembrane and tetratricopeptide repeat containing 2 269 endoplasmic reticulum|integral to membrane binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1) 39 CTCCTCACCCGCACTCTCACC 0.527000 6 334 0 0 1 0 0 WNK1 65125 broad.mit.edu 37 12 977171 977171 + Missense_Mutation SNP G G A TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr12:977171G>A ENST00000537687.1 + 9 2922 c.2279G>A c.(2278-2280)cGt>cAt p.R760H WNK1_ENST00000340908.4_Intron|WNK1_ENST00000315939.6_Intron|WNK1_ENST00000574564.1_Missense_Mutation_p.R59H|WNK1_ENST00000530271.2_Missense_Mutation_p.R845H|WNK1_ENST00000535572.1_Intron NM_001184985.1|NM_213655.4 NP_001171914.1|NP_998820.3 Q9H4A3 WNK1_HUMAN WNK lysine deficient protein kinase 1 763 intracellular protein kinase cascade|ion transport|neuron development cytoplasm ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 104 all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632) Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197) TCCCAGCGGCGTAAGAGCACC 0.517000 5 362 0 0 1 0 0 RP11-93K22.13 0 broad.mit.edu 37 3 129811972 129811972 + RNA SNP G G C TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr3:129811972G>C ENST00000514010.1 - 0 157 ALG1L2_ENST00000507643.1_RNA TTGACGGACAGAACCTTCCTT 0.408000 4 230 0 0 1 0 0 APBB1IP 54518 broad.mit.edu 37 10 26785284 26785284 + Missense_Mutation SNP G G C TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr10:26785284G>C ENST00000376236.4 + 4 579 c.124G>C c.(124-126)Gaa>Caa p.E42Q APBB1IP_ENST00000356785.4_Missense_Mutation_p.E42Q NM_019043.3 NP_061916.3 Q7Z5R6 AB1IP_HUMAN amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein 42 blood coagulation|signal transduction cytoskeleton|cytosol|focal adhesion|lamellipodium central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1) 45 ACCCAGAGCTGAATTTAACTA 0.348000 4 228 0 0 1 0 0 VAMP4 8674 broad.mit.edu 37 1 171679889 171679889 + Missense_Mutation SNP C C G TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr1:171679889C>G ENST00000236192.7 - 5 616 c.230G>C c.(229-231)aGa>aCa p.R77T VAMP4_ENST00000482519.1_Intron|VAMP4_ENST00000367740.2_Missense_Mutation_p.R76T|VAMP4_ENST00000415773.1_Missense_Mutation_p.R76T NM_001185127.1|NM_003762.4 NP_001172056.1|NP_003753.2 O75379 VAMP4_HUMAN vesicle-associated membrane protein 4 77 v-SNARE coiled-coil homology. vesicle-mediated transport endosome|Golgi membrane|integral to membrane|lysosome large_intestine(4) 4 all_cancers(6;1.42e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181) TCTCTCCCCTCTCTCAATTAC 0.323000 5 318 0 0 1 0 0 CPNE4 131034 broad.mit.edu 37 3 131261421 131261421 + Missense_Mutation SNP G G A TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr3:131261421G>A ENST00000512055.1 - 19 3645 c.1519C>T c.(1519-1521)Ccc>Tcc p.P507S CPNE4_ENST00000429747.1_Missense_Mutation_p.P507S|CPNE4_ENST00000512332.1_Missense_Mutation_p.P525S|CPNE4_ENST00000511604.1_Missense_Mutation_p.P507S|CPNE4_ENST00000502818.1_Missense_Mutation_p.P525S Q96A23 CPNE4_HUMAN copine IV 507 VWFA. central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 39 TTCCTGAAGGGCACGAACTGG 0.502000 5 222 0 0 1 0 0 OR2Z1 284383 broad.mit.edu 37 19 8841649 8841649 + Missense_Mutation SNP C C T TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr19:8841649C>T ENST00000324060.2 + 1 334 c.259C>T c.(259-261)Cgg>Tgg p.R87W NM_001004699.1 NP_001004699.1 Q8NG97 OR2Z1_HUMAN olfactory receptor, family 2, subfamily Z, member 1 87 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 AGACTTTCTGCGGGGAGAAGG 0.552000 5 539 0 0 1 0 0 NOS1 4842 broad.mit.edu 37 12 117662845 117662845 + Missense_Mutation SNP G G A TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr12:117662845G>A ENST00000317775.6 - 25 4487 c.3802C>T c.(3802-3804)Cgg>Tgg p.R1268W NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000338101.4_Missense_Mutation_p.R1302W NM_000620.4|NM_001204218.1 NP_000611.1|NP_001191147.1 P29475 NOS1_HUMAN nitric oxide synthase 1 (neuronal) 1268 multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) TCAAATTGCCGCTGTTGCCAG 0.612000 188 383 0 0 1 0 0 SGCZ 137868 broad.mit.edu 37 8 13947958 13947958 + Nonsense_Mutation SNP C C T TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr8:13947958C>T ENST00000382080.1 - 8 1648 c.933G>A c.(931-933)tgG>tgA p.W311* SGCZ_ENST00000421524.2_Nonsense_Mutation_p.W264* NM_139167.2 NP_631906.2 Q96LD1 SGCZ_HUMAN sarcoglycan, zeta 298 cytoskeleton organization cytoplasm|cytoskeleton|integral to membrane|sarcolemma NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 47 all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026) CACTTCAGCTCCACAGGCAGA 0.498000 76 314 0 0 1 0 0 UBE3A 7337 broad.mit.edu 37 15 25616639 25616639 + Missense_Mutation SNP C C T TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr15:25616639C>T ENST00000232165.3 - 6 1338 c.682G>A c.(682-684)Gat>Aat p.D228N UBE3A_ENST00000438097.1_Missense_Mutation_p.D208N|UBE3A_ENST00000566215.1_Missense_Mutation_p.D208N|UBE3A_ENST00000397954.2_Missense_Mutation_p.D231N|UBE3A_ENST00000428984.2_Missense_Mutation_p.D208N|SNHG14_ENST00000554726.1_RNA NM_000462.3|NM_130839.2 NP_000453.2|NP_570854.1 Q05086 UBE3A_HUMAN ubiquitin protein ligase E3A 231 brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus|proteasome complex protein binding|ubiquitin-protein ligase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 38 all_cancers(20;3.47e-21)|Breast(32;0.00123) all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616) ACAGACACATCATCAGGGCCT 0.408000 7 540 0 0 1 0 0 TRIM10 10107 broad.mit.edu 37 6 30126398 30126398 + Silent SNP C C G TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr6:30126398C>G ENST00000449742.2 - 3 609 c.534G>C c.(532-534)gtG>gtC p.V178V TRIM10_ENST00000376704.3_Silent_p.V178V NM_006778.3 NP_006769.2 Q9UDY6 TRI10_HUMAN tripartite motif containing 10 178 cytoplasm zinc ion binding ovary(1) 1 TCTTGGTGGACACCTGAGTCT 0.537000 5 344 0 0 1 0 0 LTBP4 8425 broad.mit.edu 37 19 41123123 41123123 + Missense_Mutation SNP C C G TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr19:41123123C>G ENST00000308370.7 + 25 3261 c.3261C>G c.(3259-3261)caC>caG p.H1087Q LTBP4_ENST00000545697.1_Intron|LTBP4_ENST00000204005.9_Missense_Mutation_p.H1050Q|LTBP4_ENST00000396819.3_Missense_Mutation_p.H1020Q|LTBP4_ENST00000243562.9_Missense_Mutation_p.H141Q|LTBP4_ENST00000602240.1_3'UTR NM_001042544.1 NP_001036009.1 Q8N2S1 LTBP4_HUMAN latent transforming growth factor beta binding protein 4 1088 Cys-rich.|EGF-like 12; calcium-binding (Potential). growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity central_nervous_system(1) 1 Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384) ATGGGCGTCACTGCGTGGGTA 0.622000 22 159 0 0 1 0 0 GRID1 2894 broad.mit.edu 37 10 87407024 87407024 + Missense_Mutation SNP G G A TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr10:87407024G>A ENST00000327946.7 - 13 2213 c.2128C>T c.(2128-2130)Cgg>Tgg p.R710W GRID1_ENST00000536331.1_Missense_Mutation_p.R281W|RP11-93H12.4_ENST00000474115.2_RNA NM_017551.2 NP_060021.1 Q9ULK0 GRID1_HUMAN glutamate receptor, ionotropic, delta 1 710 cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5) 106 L-Glutamic Acid(DB00142) CTGATGGTCCGCCAGAGTTCA 0.572000 Multiple Myeloma(13;0.14) 7 1057 0 0 1 0 0 FYCO1 79443 broad.mit.edu 37 3 46009639 46009639 + Missense_Mutation SNP G G A TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr3:46009639G>A ENST00000296137.2 - 8 1392 c.1187C>T c.(1186-1188)gCg>gTg p.A396V FYCO1_ENST00000535325.1_Missense_Mutation_p.A396V NM_024513.3 NP_078789.2 Q9BQS8 FYCO1_HUMAN FYVE and coiled-coil domain containing 1 396 transport integral to membrane metal ion binding|protein binding NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 54 BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323) CTCCTGGGCCGCATCACTGGG 0.567000 7 817 0 0 1 0 0 ZNF878 729747 broad.mit.edu 37 19 12155673 12155673 + Missense_Mutation SNP A A C TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr19:12155673A>C ENST00000602107.1 - 5 683 c.684T>G c.(682-684)agT>agG p.S228R CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|ZNF878_ENST00000547628.1_Missense_Mutation_p.S181R|CTD-2006C1.10_ENST00000547473.1_Intron C9JN71 ZN878_HUMAN zinc finger protein 878 181 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1) 8 AACTGGGAAAACTGAATGCTT 0.403000 5 638 0 0 1 0 0 KRTAP5-1 387264 broad.mit.edu 37 11 1606231 1606231 + Silent SNP T T C TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr11:1606231T>C ENST00000382171.2 - 1 282 c.249A>G c.(247-249)ggA>ggG p.G83G KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA NM_001005922.1 NP_001005922.1 Q6L8H4 KRA51_HUMAN keratin associated protein 5-1 83 8 X 4 AA repeats of C-C-X-P. keratin filament endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1) 16 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) CCTTGCAGCCTCCACAGGAGC 0.672000 11 611 0 0 1 0 0 AGAP10 728127 broad.mit.edu 37 10 47207828 47207828 + Missense_Mutation SNP C C A TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr10:47207828C>A ENST00000355232.3 - 5 3467 c.455G>T c.(454-456)aGc>aTc p.S152I AGAP10_ENST00000452145.2_Missense_Mutation_p.S127I|RP11-144G6.12_ENST00000605970.1_RNA|AGAP10_ENST00000413193.2_Missense_Mutation_p.S223I ArfGAP with GTPase domain, ankyrin repeat and PH domain 10 p.S223I(4) endometrium(5)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1) 12 TGTACAGTTGCTTCTTCTTAT 0.264000 5 169 1.12685e-05 1.24276e-05 1 1 0 LPAR3 23566 broad.mit.edu 37 1 85279562 85279562 + Missense_Mutation SNP G G C TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr1:85279562G>C ENST00000440886.1 - 2 1067 c.1029C>G c.(1027-1029)agC>agG p.S343R LPAR3_ENST00000370611.3_Missense_Mutation_p.S343R Q9UBY5 LPAR3_HUMAN lysophosphatidic acid receptor 3 343 G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane|intracellular membrane-bounded organelle central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1) 24 CTGCACCTTGGCTAATACTAT 0.532000 4 122 0 0 1 0 0 KRT5 3852 broad.mit.edu 37 12 52910448 52910448 + Missense_Mutation SNP C C T TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr12:52910448C>T ENST00000252242.4 - 7 1802 c.1412G>A c.(1411-1413)cGc>cAc p.R471H NM_000424.3 NP_000415.2 P13647 K2C5_HUMAN keratin 5 471 Coil 2.|Rod. epidermis development|hemidesmosome assembly cytosol|keratin filament protein binding|structural constituent of cytoskeleton endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2) 35 BRCA - Breast invasive adenocarcinoma(357;0.189) CAGCAGCTTGCGGTAAGTGGC 0.582000 5 441 0 0 1 0 0 POTEC 388468 broad.mit.edu 37 18 14513675 14513675 + Missense_Mutation SNP T T C TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr18:14513675T>C ENST00000358970.5 - 10 1518 c.1519A>G c.(1519-1521)Aaa>Gaa p.K507E NM_001137671.1 NP_001131143.1 B2RU33 POTEC_HUMAN POTE ankyrin domain family, member C 507 p.K507E(2) NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 GAATTCATTTTCTTTTCAGCC 0.284000 4 134 0 0 1 0 0 DSP 1832 broad.mit.edu 37 6 7562904 7562904 + Missense_Mutation SNP C C A TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr6:7562904C>A ENST00000379802.3 + 5 958 c.617C>A c.(616-618)gCc>gAc p.A206D DSP_ENST00000418664.2_Missense_Mutation_p.A206D NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 206 Globular 1.|Interacts with plakophilin 1 and junction plakoglobin. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) GACATGGTGGCCTGGGGTGTG 0.562000 5 408 1 1 1 1 0 RFPL1 5988 broad.mit.edu 37 22 29835118 29835118 + Missense_Mutation SNP T T A TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr22:29835118T>A ENST00000354373.2 + 1 547 c.338T>A c.(337-339)aTt>aAt p.I113N RFPL1S_ENST00000461286.2_RNA NM_021026.2 NP_066306.2 O75677 RFPL1_HUMAN ret finger protein-like 1 113 B30.2/SPRY. zinc ion binding endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 16 CTGAAGAAGATTCTGCAGATG 0.512000 6 440 0 0 1 0 0 PTPRF 5792 broad.mit.edu 37 1 44071946 44071948 + In_Frame_Del DEL GCG GCG - TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr1:44071946_44071948delGCG ENST00000359947.4 + 20 3859_3861 c.3519_3521delGCG c.(3517-3522)cag>ca p.QR1173del PTPRF_ENST00000372414.3_In_Frame_Del_p.QR1173del|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000372413.3_In_Frame_Del_p.QR1164del|PTPRF_ENST00000422171.2_In_Frame_Del_p.QR521del|PTPRF_ENST00000438120.1_In_Frame_Del_p.QR1164del NM_002840.3 NP_002831.2 P10586 PTPRF_HUMAN protein tyrosine phosphatase, receptor type, F 1173 transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3) 72 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) GAGAGGAGCAGCGGCGGCGGCGG 0.631 8 424 --- --- --- --- RP11-782C8.1 0 broad.mit.edu 37 1 143217265 143217266 + RNA INS - - A TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr1:143217265_143217266insA ENST00000438000.1 + 0 59 GTTAGTAAAGCAAAAAAAAAAC 0.282 7 34 --- --- --- --- LMX1A 4009 broad.mit.edu 37 1 165177332 165177334 + In_Frame_Del DEL TGC TGC - TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr1:165177332_165177334delTGC ENST00000342310.3 - 7 1165_1167 c.783_785delGCA c.(781-786)caa>ca p.QQ261del LMX1A_ENST00000367893.4_In_Frame_Del_p.QQ261del|LMX1A_ENST00000489443.2_5'UTR|LMX1A_ENST00000294816.2_In_Frame_Del_p.QQ261del NM_177398.3 NP_796372.1 Q8TE12 LMX1A_HUMAN LIM homeobox transcription factor 1, alpha 261 Gln-rich.|Poly-Gln. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4) 35 all_hematologic(923;0.248) CTGCTGATCTTGCTGCTGCTGCT 0.567 7 181 --- --- --- --- GPR25 2848 broad.mit.edu 37 1 200842776 200842778 + In_Frame_Del DEL TGC TGC - TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr1:200842776_200842778delTGC ENST00000304244.2 + 1 694_696 c.611_613delTGC c.(610-615)ttg>t p.LL208del NM_005298.2 NP_005289.2 O00155 GPR25_HUMAN G protein-coupled receptor 25 208 Poly-Leu. integral to plasma membrane large_intestine(1)|lung(2)|ovary(1)|skin(1) 5 GGCCTCAGCTTGCTGCTGCTGCT 0.724 7 134 --- --- --- --- ACBD3 64746 broad.mit.edu 37 1 226352490 226352491 + Splice_Site INS - - T TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr1:226352490_226352491insT ENST00000366812.5 - 3 622_623 c.569_splice c.e3+1 p.E190_splice NM_022735.3 NP_073572.2 Q9H3P7 GCP60_HUMAN acyl-CoA binding domain containing 3 190 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) CAAACTTCACCTTTTTTTTTCT 0.411 8 238 --- --- --- --- POMC 5443 broad.mit.edu 37 2 25384456 25384457 + In_Frame_Ins INS - - GCCGCTGCT rs10654394 byFrequency TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr2:25384456_25384457insGCCGCTGCT ENST00000405623.1 - 3 752_753 c.297_298insAGCAGCGGC c.(295-300)ggcagg>ggAGCAGCGGCcagg p.99_100GR>GAAAR POMC_ENST00000264708.3_In_Frame_Ins_p.99_100GR>GAAAR|POMC_ENST00000395826.2_In_Frame_Ins_p.99_100GR>GAAAR|POMC_ENST00000380794.1_In_Frame_Ins_p.99_100GR>GAAAR P01189 COLI_HUMAN proopiomelanocortin 99 Missing. cell-cell signaling|cellular nitrogen compound metabolic process|cellular pigmentation|generation of precursor metabolites and energy|hormone biosynthetic process|negative regulation of tumor necrosis factor production|neuropeptide signaling pathway|peptide hormone processing|positive regulation of transcription from RNA polymerase II promoter|regulation of appetite|regulation of blood pressure extracellular space|stored secretory granule hormone activity|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1) 12 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Hydrocortisone(DB00741)|Loperamide(DB00836)|Trilostane(DB01108) TTCTGCCCTGCgccgctgctgc 0.728 7 20 --- --- --- --- AC016995.3 0 broad.mit.edu 37 2 38710017 38710019 + RNA DEL AAT AAT - rs2005502 by1000genomes TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr2:38710017_38710019delAAT ENST00000417039.1 - 0 696 TTCTTtaaaaaataaataaataa 0.246 11 27 --- --- --- --- USP34 9736 broad.mit.edu 37 2 61575023 61575025 + In_Frame_Del DEL TGG TGG - TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr2:61575023_61575025delTGG ENST00000398571.2 - 15 2341_2343 c.2265_2267delCCA c.(2263-2268)cat>ca p.HH759del NM_014709.3 NP_055524.3 Q70CQ2 UBP34_HUMAN ubiquitin specific peptidase 34 759 positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2) 138 Epithelial(17;0.229) gtggtggtgatggtggtggtggt 0.389 8 243 --- --- --- --- RBM45 129831 broad.mit.edu 37 2 178988920 178988920 + Frame_Shift_Del DEL A A - TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr2:178988920delA ENST00000286070.5 + 8 1227 c.1135delA c.(1135-1137)aafs p.K381fs NM_152945.2 NP_694453.2 Q8IUH3 RBM45_HUMAN RNA binding motif protein 45 383 cell differentiation|nervous system development cytoplasm|nucleus nucleotide binding|RNA binding p.A382fs*7(2)|p.?(1) endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037) TCCATCATGCAAAAAAAAAGC 0.353 8 280 --- --- --- --- SYN2 6854 broad.mit.edu 37 3 12046124 12046126 + RNA DEL AGC AGC - rs76272937 TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr3:12046124_12046126delAGC ENST00000432424.2 + 0 245_247 Q86VA8 Q86VA8_HUMAN synapsin II neurotransmitter secretion synaptic vesicle ATP binding|ligase activity breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1) 18 AGCCCCAGCAAGCGCCGAcgccg 0.764 7 24 --- --- --- --- ZFR 51663 broad.mit.edu 37 5 32419951 32419953 + In_Frame_Del DEL GGT GGT - TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr5:32419951_32419953delGGT ENST00000265069.8 - 3 495_497 c.393_395delACC c.(391-396)ccc>cc p.PP131del NM_016107.3 NP_057191.2 Q96KR1 ZFR_HUMAN zinc finger RNA binding protein 131 Ala-rich. multicellular organismal development chromosome|cytoplasm|nucleus DNA binding|RNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2) 32 STAD - Stomach adenocarcinoma(35;0.19) AGTAGCTGGGGGTGGTGGTGGTG 0.483 9 721 --- --- --- --- FGFR4 2264 broad.mit.edu 37 5 176520283 176520283 + Frame_Shift_Del DEL G G - TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr5:176520283delG ENST00000292408.4 + 9 1447 c.1202delG c.(1201-1203)ccfs p.R401fs FGFR4_ENST00000393648.2_Intron|FGFR4_ENST00000292410.3_Intron|FGFR4_ENST00000502906.1_Frame_Shift_Del_p.R401fs|FGFR4_ENST00000393637.1_Intron NM_002011.3|NM_213647.1 NP_002002.3|NP_998812.1 P22455 FGFR4_HUMAN fibroblast growth factor receptor 4 401 insulin receptor signaling pathway|positive regulation of cell proliferation integral to plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 34 all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) Palifermin(DB00039) CGGCACCCCCGCCCGCCCGCC 0.692 TSP Lung(9;0.080) 7 262 --- --- --- --- TDRD6 221400 broad.mit.edu 37 6 46660414 46660415 + Frame_Shift_Ins INS - - A rs145334816 TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr6:46660414_46660415insA ENST00000544460.1 + 1 4803_4804 c.4549_4550insA c.(4549-4551)aaafs p.K1517fs TDRD6_ENST00000316081.6_Frame_Shift_Ins_p.K1517fs NM_001168359.1 NP_001161831.1 O60522 TDRD6_HUMAN tudor domain containing 6 1517 cell differentiation|multicellular organismal development|spermatogenesis chromatoid body nucleic acid binding NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 Lung(136;0.192) GTATAATCCAGAAAAAAAAATG 0.351 7 160 --- --- --- --- PMS2P3 0 broad.mit.edu 37 7 75142142 75142142 + RNA DEL A A - rs35519730 TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr7:75142142delA ENST00000418756.1 - 0 991 NR_028059.1 lung(1) 1 tctcaaaaagaaaaaaaaaaa 0.418 7 11 --- --- --- --- TRBV7-8 0 broad.mit.edu 37 7 142099805 142099806 + RNA DEL AC AC - TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr7:142099805_142099806delAC ENST00000390359.3 - 0 88 TAGTCATcatacacacacacac 0.441 11 199 --- --- --- --- KAT6A 7994 broad.mit.edu 37 8 41798420 41798422 + In_Frame_Del DEL CTC CTC - TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr8:41798420_41798422delCTC ENST00000396930.3 - 16 3520_3522 c.2977_2979delGAG c.(2977-2979)del p.E993del KAT6A_ENST00000406337.1_In_Frame_Del_p.E993del|KAT6A_ENST00000265713.2_In_Frame_Del_p.E993del NM_001099412.1 NP_001092882.1 Q92794 MYST3_HUMAN K(lysine) acetyltransferase 6A 993 Poly-Glu. histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding GGCTTTCCGGCTCCTCCTCCTCC 0.567 7 471 --- --- --- --- TBC1D31 93594 broad.mit.edu 37 8 124140520 124140521 + Splice_Site INS - - T TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr8:124140520_124140521insT ENST00000287380.1 + 14 1974_1975 c.e14-1 TBC1D31_ENST00000309336.3_Splice_Site|TBC1D31_ENST00000518805.1_Intron|TBC1D31_ENST00000378080.2_Splice_Site|TBC1D31_ENST00000327098.5_Splice_Site|TBC1D31_ENST00000522420.1_Splice_Site|TBC1D31_ENST00000521676.1_Splice_Site NM_145647.3 NP_663622.2 TBC1 domain family, member 31 TTTTCTTACAGTTTTTTTTTCA 0.322 7 204 --- --- --- --- RUSC2 9853 broad.mit.edu 37 9 35560102 35560104 + In_Frame_Del DEL GCT GCT - TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr9:35560102_35560104delGCT ENST00000455600.1 + 10 4034_4036 c.3465_3467delGCT c.(3463-3468)gag>ga p.EL1155del NM_001135999.1 NP_001129471.1 Q8N2Y8 RUSC2_HUMAN RUN and SH3 domain containing 2 1155 RUN. cytosol NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194) TCTTTGAAGAGCTGCTGCTGCTG 0.616 7 559 --- --- --- --- ARID5B 84159 broad.mit.edu 37 10 63852298 63852298 + Frame_Shift_Del DEL A A - TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr10:63852298delA ENST00000279873.7 + 10 3486 c.3076delA c.(3076-3078)aafs p.K1027fs ARID5B_ENST00000309334.5_Frame_Shift_Del_p.K784fs NM_032199.2 NP_115575.1 Q14865 ARI5B_HUMAN AT rich interactive domain 5B (MRF1-like) 1027 liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent protein binding|transcription regulatory region DNA binding NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 44 Prostate(12;0.016)|all_hematologic(501;0.215) GATTGCAGGGAAAAAGGCCCG 0.607 7 549 --- --- --- --- PPRC1 23082 broad.mit.edu 37 10 103901076 103901077 + Frame_Shift_Ins INS - - C TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr10:103901076_103901077insC ENST00000278070.2 + 5 2850_2851 c.2811_2812insC c.(2809-2814)ctccccfs p.LP937fs PPRC1_ENST00000413464.2_Frame_Shift_Ins_p.LP937fs NM_015062.3 NP_055877.3 Q5VV67 PPRC1_HUMAN peroxisome proliferator-activated receptor gamma, coactivator-related 1 937 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 56 Colorectal(252;0.122) Epithelial(162;4.97e-08)|all cancers(201;8.99e-07) ATCCTTGCCTGCCCCCCCCACC 0.604 8 364 --- --- --- --- NLRP6 171389 broad.mit.edu 37 11 281553 281555 + In_Frame_Del DEL GAG GAG - TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr11:281553_281555delGAG ENST00000534750.1 + 4 2024_2026 c.1819_1821delGAG c.(1819-1821)del p.E611del NLRP6_ENST00000312165.5_In_Frame_Del_p.E611del NM_001276700.1 NP_001263629.1 P59044 NALP6_HUMAN NLR family, pyrin domain containing 6 611 Poly-Glu. cytoplasm ATP binding breast(1)|skin(1)|upper_aerodigestive_tract(2) 4 all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122) CGAAGAGCCAGAGGAGGAGGAGG 0.670 9 656 --- --- --- --- UBQLN3 50613 broad.mit.edu 37 11 5529918 5529920 + In_Frame_Del DEL TGG TGG - rs2234451 byFrequency TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr11:5529918_5529920delTGG ENST00000311659.4 - 2 1016_1018 c.869_871delCCA c.(868-873)agc>a p.TS290del HBG2_ENST00000380259.2_Intron NM_017481.2 NP_059509.1 Q9H347 UBQL3_HUMAN ubiquilin 3 290 T -> S (in dbSNP:rs2234451). NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2) 39 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GAAGGTTGGCTGGTGGTGGTGGT 0.537 14 520 --- --- --- --- RARRES3 5920 broad.mit.edu 37 11 63313709 63313709 + Frame_Shift_Del DEL A A - TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr11:63313709delA ENST00000255688.3 + 4 524 c.476delA c.(475-477)cafs p.Q159fs RARRES3_ENST00000354445.2_Frame_Shift_Del_p.Q159fs|RARRES3_ENST00000537871.1_3'UTR NM_004585.3 NP_004576.2 Q9UL19 TIG3_HUMAN retinoic acid receptor responder (tazarotene induced) 3 159 lipid catabolic process|negative regulation of cell proliferation hydrolase activity kidney(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 6 AGGAGATACCAAAAAAAAGCG 0.537 8 613 --- --- --- --- NCAPD3 23310 broad.mit.edu 37 11 134048586 134048586 + Frame_Shift_Del DEL G G - rs138442478 TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr11:134048586delG ENST00000534548.2 - 22 2789 c.2725delC c.(2725-2727)agfs p.Q909fs NM_015261.2 NP_056076.1 P42695 CNDD3_HUMAN non-SMC condensin II complex, subunit D3 909 cell division|mitotic chromosome condensation nuclear centromeric heterochromatin|nuclear condensin complex methylated histone residue binding p.Q909fs*12(1) NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_hematologic(175;0.127) all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227) CCTCTGACCTGGGGGGGTGGC 0.522 7 369 --- --- --- --- SMARCC2 6601 broad.mit.edu 37 12 56558379 56558381 + In_Frame_Del DEL AGG AGG - TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr12:56558379_56558381delAGG ENST00000550164.1 - 28 3381_3383 c.3367_3369delCCT c.(3367-3369)del p.P1123del SMARCC2_ENST00000267064.4_In_Frame_Del_p.P1092del|SMARCC2_ENST00000347471.4_Intron|SMARCC2_ENST00000394023.3_Intron|RP11-977G19.5_ENST00000553176.1_RNA Q8TAQ2 SMRC2_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 1092 Pro-rich. HGHHHHLPFA -> MGSPPSPVR (in Ref. 1; AAC50694). chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex DNA binding|protein binding|transcription coactivator activity breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1) 41 OV - Ovarian serous cystadenocarcinoma(18;0.123) TGGATGGAGCAGGAGGAGGAGGA 0.591 7 159 --- --- --- --- LRIG3 121227 broad.mit.edu 37 12 59277344 59277344 + Frame_Shift_Del DEL A A - TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr12:59277344delA ENST00000320743.3 - 11 1560 c.1274delT c.(1273-1275)tafs p.L425fs LRIG3_ENST00000379141.4_Frame_Shift_Del_p.L365fs NM_153377.4 NP_700356.2 Q6UXM1 LRIG3_HUMAN leucine-rich repeats and immunoglobulin-like domains 3 425 integral to membrane LRIG3/ROS1(2) breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 GBM - Glioblastoma multiforme(1;1.17e-18) ATTGCCTTGTAAAGACATGAT 0.383 T ROS1 NSCLC 40 163 --- --- --- --- MLEC 9761 broad.mit.edu 37 12 121134166 121134168 + In_Frame_Del DEL GAA GAA - TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr12:121134166_121134168delGAA ENST00000228506.3 + 5 1125_1127 c.697_699delGAA c.(697-699)del p.E238del MLEC_ENST00000412616.2_In_Frame_Del_p.RK154del NM_014730.2 NP_055545.1 Q14165 MLEC_HUMAN malectin 238 Poly-Glu. post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane carbohydrate binding p.E233E(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1) 16 gaaagaagaggaagaagaagaag 0.458 11 380 --- --- --- --- PABPC3 5042 broad.mit.edu 37 13 25671097 25671098 + Frame_Shift_Ins INS - - T rs140090397 by1000genomes TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr13:25671097_25671098insT ENST00000281589.3 + 1 798_799 c.761_762insT c.(760-762)agafs p.R254fs NM_030979.2 NP_112241.2 Q9H361 PABP3_HUMAN poly(A) binding protein, cytoplasmic 3 254 RRM 3. mRNA metabolic process cytoplasm nucleotide binding|poly(A) RNA binding breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3) 47 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241) ATGAATGGAAAGGAGCTCAATG 0.401 12 237 --- --- --- --- KIAA1704 0 broad.mit.edu 37 13 45580365 45580367 + In_Frame_Del DEL GAT GAT - rs138421508 TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr13:45580365_45580367delGAT ENST00000361121.2 + 3 285_287 c.250_252delGAT c.(250-252)del p.D88del KIAA1704_ENST00000379151.4_In_Frame_Del_p.D88del|RP11-321C24.1_ENST00000437748.2_lincRNA|KIAA1704_ENST00000357537.3_De_novo_Start_InFrame Q8IXQ4 K1704_HUMAN 88 Poly-Asp. breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|prostate(2)|skin(1) 12 Lung NSC(96;0.00143)|Prostate(109;0.0137)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000313)|BRCA - Breast invasive adenocarcinoma(63;0.126) Ggatgatgacgatgatgatgatg 0.335 7 503 --- --- --- --- FAM155A 728215 broad.mit.edu 37 13 108518337 108518338 + Frame_Shift_Ins INS - - C TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr13:108518337_108518338insC ENST00000375915.2 - 1 745_746 c.607_608insG c.(607-609)cggfs p.R203fs NM_001080396.2 NP_001073865.1 B1AL88 F155A_HUMAN family with sequence similarity 155, member A 203 integral to membrane binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 CTCCTGCCCGTCCCCCCCGGCC 0.609 7 461 --- --- --- --- TEP1 7011 broad.mit.edu 37 14 20852647 20852647 + Frame_Shift_Del DEL C C - TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr14:20852647delC ENST00000262715.5 - 23 3282 c.3242delG c.(3241-3243)gtfs p.G1081fs TEP1_ENST00000556935.1_Frame_Shift_Del_p.G973fs NM_007110.4 NP_009041.2 Q99973 TEP1_HUMAN telomerase-associated protein 1 1081 telomere maintenance via recombination chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex ATP binding|RNA binding p.V1082fs*47(1) NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 96 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233) AGCTGCCACACCCCCCCACTC 0.587 7 897 --- --- --- --- TOX4 9878 broad.mit.edu 37 14 21961060 21961062 + In_Frame_Del DEL GCT GCT - TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr14:21961060_21961062delGCT ENST00000405508.1 + 8 1561_1563 c.1285_1287delGCT c.(1285-1287)del p.A434del TOX4_ENST00000448790.2_In_Frame_Del_p.A411del|TOX4_ENST00000262709.3_In_Frame_Del_p.A434del O94842 TOX4_HUMAN TOX high mobility group box family member 4 434 Gln/Pro-rich.|Poly-Ala. chromatin|nucleus|PTW/PP1 phosphatase complex DNA binding|protein binding p.A429A(1) large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 all_cancers(95;0.000465) Epithelial(56;6.61e-06)|all cancers(55;5.15e-05) GBM - Glioblastoma multiforme(265;0.0149) GGCAGCAGCAGCTGCTGCTGCTG 0.581 10 879 --- --- --- --- ATXN3 4287 broad.mit.edu 37 14 92537355 92537357 + In_Frame_Del DEL CTG CTG - rs147904130 byFrequency TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr14:92537355_92537357delCTG ENST00000545170.1 - 10 1008_1010 c.940_942delCAG c.(940-942)del p.Q314del ATXN3_ENST00000532032.1_In_Frame_Del_p.Q305del|ATXN3_ENST00000554491.1_5'UTR|ATXN3_ENST00000429774.2_In_Frame_Del_p.Q298del|ATXN3_ENST00000503767.1_In_Frame_Del_p.Q290del|ATXN3_ENST00000502250.1_In_Frame_Del_p.Q126del|ATXN3_ENST00000393287.5_In_Frame_Del_p.Q305del|ATXN3_ENST00000340660.6_In_Frame_Del_p.Q250del NM_001164774.1|NM_001164776.1|NM_001164777.1|NM_001164778.1|NM_004993.5 NP_001158246.1|NP_001158248.1|NP_001158249.1|NP_001158250.1|NP_004984.2 P54252 ATX3_HUMAN ataxin 3 305 cell death|nervous system development|nucleotide-excision repair|regulation of transcription, DNA-dependent|synaptic transmission|transcription, DNA-dependent cytoplasm|nuclear matrix|nucleoplasm cysteine-type peptidase activity|protein binding endometrium(2)|large_intestine(1)|lung(7)|prostate(1)|stomach(1) 12 all_cancers(154;0.0768) COAD - Colon adenocarcinoma(157;0.224) ATAGGTCCCCctgctgctgctgc 0.448 8 249 --- --- --- --- DNM1P47 0 broad.mit.edu 37 15 102299886 102299887 + RNA INS - - G TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr15:102299886_102299887insG ENST00000561463.1 + 0 7932_7933 AACCTGTACTCGCGTCGGAACC 0.589 8 21 --- --- --- --- DNM1P47 0 broad.mit.edu 37 15 102304934 102304936 + RNA DEL TCT TCT - rs72450638 TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr15:102304934_102304936delTCT ENST00000561463.1 + 0 12980_12982 AAGGAGTTCATCTTCTCAGAGCT 0.586 7 83 --- --- --- --- NPIPA5 100288332 broad.mit.edu 37 16 15457565 15457566 + Frame_Shift_Del DEL AC AC - TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr16:15457565_15457566delAC ENST00000360151.4 - 8 1002_1003 c.1003_1004delGT c.(1003-1005)cfs p.V335fs NM_001277325.1 NP_001264254.1 nuclear pore complex interacting protein family, member A5 GAGTGAGCAGACACACTCGGGA 0.446 11 189 --- --- --- --- IL4R 3566 broad.mit.edu 37 16 27373787 27373789 + In_Frame_Del DEL GAG GAG - TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr16:27373787_27373789delGAG ENST00000395762.2 + 11 1373_1375 c.1114_1116delGAG c.(1114-1116)del p.E376del IL4R_ENST00000380922.3_In_Frame_Del_p.E361del|IL4R_ENST00000543915.2_In_Frame_Del_p.E376del|IL4R_ENST00000170630.2_In_Frame_Del_p.E376del|IL4R_ENST00000565915.1_3'UTR NM_000418.3 NP_000409.1 P24394 IL4RA_HUMAN interleukin 4 receptor 376 Poly-Glu. immune response|production of molecular mediator involved in inflammatory response integral to plasma membrane identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 33 GGTGGAGTGTGAGGAGGAGGAGG 0.591 12 283 --- --- --- --- NFAT5 10725 broad.mit.edu 37 16 69726420 69726422 + In_Frame_Del DEL CAG CAG - TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr16:69726420_69726422delCAG ENST00000349945.1 + 14 3962_3964 c.2410_2412delCAG c.(2410-2412)del p.Q812del NFAT5_ENST00000393742.2_In_Frame_Del_p.Q812del|NFAT5_ENST00000354436.2_In_Frame_Del_p.Q888del|NFAT5_ENST00000432919.1_In_Frame_Del_p.Q906del|NFAT5_ENST00000567239.1_In_Frame_Del_p.Q905del|NFAT5_ENST00000566899.1_In_Frame_Del_p.Q812del NM_138714.3 NP_619728.2 O94916 NFAT5_HUMAN nuclear factor of activated T-cells 5, tonicity-responsive 888 excretion|signal transduction|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity p.Q804Q(1)|p.Q898Q(1) 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 ATCTAATcaacagcagcagcagc 0.473 7 188 --- --- --- --- POLDIP2 26073 broad.mit.edu 37 17 26684394 26684395 + Splice_Site INS - - G rs113730440 TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr17:26684394_26684395insG ENST00000540200.1 - 1 78 c.e1+1 POLDIP2_ENST00000003607.4_5'UTR NM_015584.3 NP_056399.1 Q9Y2S7 PDIP2_HUMAN polymerase (DNA-directed), delta interacting protein 2 mitochondrial nucleoid|nucleus all_lung(13;0.000354)|Lung NSC(42;0.00115) UCEC - Uterine corpus endometrioid carcinoma (53;0.154) AGAGCGGCTTTGCCACCGGGCC 0.762 18 35 --- --- --- --- AMZ2P1 0 broad.mit.edu 37 17 62968575 62968575 + RNA DEL T T - TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr17:62968575delT ENST00000430983.1 - 0 1593 NR_026903.1 TTGGTTGGAATTTTTTTCCCT 0.333 7 145 --- --- --- --- SMAD4 4089 broad.mit.edu 37 18 48604697 48604698 + Frame_Shift_Del DEL AA AA - TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr18:48604697_48604698delAA ENST00000342988.3 + 12 2057_2058 c.1519_1520delAA c.(1519-1521)afs p.K507fs SMAD4_ENST00000586253.1_3'UTR|SMAD4_ENST00000398417.2_Frame_Shift_Del_p.K507fs|SMAD4_ENST00000588745.1_Frame_Shift_Del_p.K411fs NM_005359.5 NP_005350.1 Q13485 SMAD4_HUMAN SMAD family member 4 507 MH2. BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway activin responsive factor complex|centrosome|cytosol I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity p.0?(36)|p.?(2)|p.K507Q(2) NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1) 454 all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336) Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155) GAGTTTTGTGAAAGGCTGGGGA 0.470 61 177 --- --- --- --- DNMT1 1786 broad.mit.edu 37 19 10262139 10262139 + Frame_Shift_Del DEL T T - TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr19:10262139delT ENST00000340748.4 - 23 2387 c.2152delA c.(2152-2154)tgfs p.M718fs DNMT1_ENST00000540357.1_Frame_Shift_Del_p.M718fs|DNMT1_ENST00000359526.4_Frame_Shift_Del_p.M734fs P26358 DNMT1_HUMAN DNA (cytosine-5-)-methyltransferase 1 718 chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent nucleus DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06) Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035) CCCTGGTGCATTTTTTTGGGT 0.507 7 622 --- --- --- --- GADD45GIP1 90480 broad.mit.edu 37 19 13065273 13065275 + In_Frame_Del DEL GCT GCT - TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr19:13065273_13065275delGCT ENST00000316939.1 - 2 439_441 c.416_418delAGC c.(415-420)cgg>c p.QR139del NM_052850.2 NP_443082.2 Q8TAE8 G45IP_HUMAN growth arrest and DNA-damage-inducible, gamma interacting protein 1 139 Poly-Gln. cell cycle|interspecies interaction between organisms nucleus protein binding ovary(2)|prostate(1)|skin(1) 4 CAGTTCTCCCGCTGCTGCTGCTG 0.635 7 387 --- --- --- --- DIDO1 11083 broad.mit.edu 37 20 61512380 61512381 + Frame_Shift_Ins INS - - G TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr20:61512380_61512381insG ENST00000266070.4 - 16 5252_5253 c.4927_4928insC c.(4927-4929)cccfs p.P1643fs DIDO1_ENST00000395343.1_Frame_Shift_Ins_p.P1643fs NM_033081.2 NP_149072.2 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 1643 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 99 Breast(26;5.68e-08) CGTGGCGGGGCGGGTGCCCTCC 0.728 8 145 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11049306 11049307 + RNA INS - - T rs57143135 TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr21:11049306_11049307insT ENST00000470054.1 - 0 659 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) ATATCCAGTAATTTTTTTAAGT 0.272 7 123 --- --- --- --- MED15 51586 broad.mit.edu 37 22 20918916 20918918 + In_Frame_Del DEL CAG CAG - TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr22:20918916_20918918delCAG ENST00000263205.7 + 6 700_702 c.631_633delCAG c.(631-633)del p.Q218del MED15_ENST00000541476.1_In_Frame_Del_p.Q192del|MED15_ENST00000406969.1_In_Frame_Del_p.Q192del|MED15_ENST00000382974.2_In_Frame_Del_p.Q147del|MED15_ENST00000542773.1_In_Frame_Del_p.Q23del|MED15_ENST00000292733.7_In_Frame_Del_p.Q218del|MED15_ENST00000425759.2_In_Frame_Del_p.Q107del NM_001003891.1 NP_001003891.1 Q96RN5 MED15_HUMAN mediator complex subunit 15 218 Poly-Gln. Missing (in Ref. 4; CAG30423). regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|mediator complex protein binding central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 25 all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209) gcagcagctccagcagcagcagc 0.567 OREG0026319 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 129 --- --- --- --- TRIOBP 11078 broad.mit.edu 37 22 38120029 38120031 + In_Frame_Del DEL CCT CCT - TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr22:38120029_38120031delCCT ENST00000406386.3 + 7 1721_1723 c.1466_1468delCCT c.(1465-1470)gcc>g p.AS489del RP1-37E16.12_ENST00000455236.1_RNA NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 489 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) AATCCCAGAGCCTCCTCTCCCAG 0.601 7 406 --- --- --- --- TCF20 6942 broad.mit.edu 37 22 42610776 42610778 + In_Frame_Del DEL TGC TGC - TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chr22:42610776_42610778delTGC ENST00000359486.3 - 1 670_672 c.534_536delGCA c.(532-537)caa>ca p.QQ178del TCF20_ENST00000335626.4_In_Frame_Del_p.QQ178del NM_005650.1 NP_005641.1 Q9UGU0 TCF20_HUMAN transcription factor 20 (AR1) 178 Poly-Gln. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5) 66 CTGCTGGACTTGCTGCTGCTGCT 0.571 10 301 --- --- --- --- USP26 83844 broad.mit.edu 37 X 132160788 132160788 + Frame_Shift_Del DEL A A - TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf 735bd846-c248-4ee8-a1bb-08a3f8738776 g.chrX:132160788delA ENST00000511190.1 - 6 1930 c.1461delT c.(1459-1461)ttfs p.F487fs USP26_ENST00000370832.1_Frame_Shift_Del_p.F487fs|USP26_ENST00000406273.1_Frame_Shift_Del_p.F487fs NM_031907.1 NP_114113.1 Q9BXU7 UBP26_HUMAN ubiquitin specific peptidase 26 487 protein deubiquitination|ubiquitin-dependent protein catabolic process nucleus cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity p.G488fs*6(2)|p.F487fs*7(1) breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3) 60 Acute lymphoblastic leukemia(192;0.000127) CTTCTGCTCCAAAAAAAAGAT 0.383 7 482 --- --- --- ---