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 KIAA0556 23247 broad.mit.edu 37 16 27689091 27689091 + Silent SNP G G A TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr16:27689091G>A ENST00000261588.4 + 7 601 c.582G>A c.(580-582)agG>agA p.R194R KIAA0556_ENST00000567894.1_3'UTR NM_015202.2 NP_056017.2 O60303 K0556_HUMAN KIAA0556 194 breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 76 ATCTACAAAGGAAACAAAAGG 0.453000 17 27 0 0 0.000566183 0 0 STAG3 10734 broad.mit.edu 37 7 99802628 99802628 + Splice_Site SNP G G A TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr7:99802628G>A ENST00000426455.1 + 28 3359 c.2951_splice c.e28-1 p.K984_splice GATS_ENST00000543273.1_RNA|STAG3_ENST00000440830.1_3'UTR|STAG3_ENST00000394018.2_Splice_Site_p.K926_splice|STAG3_ENST00000317296.5_Splice_Site_p.K984_splice|GATS_ENST00000436886.2_Intron Q9UJ98 STAG3_HUMAN stromal antigen 3 984 chromosome segregation|synaptonemal complex assembly chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex binding breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 66 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) CCCAACCAAGGGAAGGCATCC 0.547000 38 91 0 0 0.00111076 0 0 RASGRF1 5923 broad.mit.edu 37 15 79320136 79320136 + Missense_Mutation SNP A A T TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr15:79320136A>T ENST00000419573.3 - 9 1602 c.1328T>A c.(1327-1329)aTc>aAc p.I443N RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Missense_Mutation_p.I443N NM_002891.4 NP_002882.3 Q13972 RGRF1_HUMAN Ras protein-specific guanine nucleotide-releasing factor 1 443 activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|growth cone|plasma membrane|synaptosome Rho guanyl-nucleotide exchange factor activity breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 GCCTTCGATGATCATGCGCTC 0.567000 37 83 0 0 0.000509022 0 0 VWF 7450 broad.mit.edu 37 12 6125965 6125965 + Missense_Mutation SNP C C T TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr12:6125965C>T ENST00000261405.5 - 29 5379 c.5125G>A c.(5125-5127)Gaa>Aaa p.E1709K NM_000552.3 NP_000543.2 P04275 VWF_HUMAN von Willebrand factor 1709 VWFA 3; main binding site for collagens type I and III. blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5) 129 Antihemophilic Factor(DB00025) CTCTTCATTTCATCAAAATAA 0.507000 31 84 0 0 0.000409698 0 0 SDK2 54549 broad.mit.edu 37 17 71357873 71357873 + Missense_Mutation SNP A A C TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr17:71357873A>C ENST00000392650.3 - 39 5417 c.5417T>G c.(5416-5418)tTc>tGc p.F1806C SDK2_ENST00000388726.3_Missense_Mutation_p.F1787C|SDK2_ENST00000410094.1_5'UTR NM_001144952.1 NP_001138424.1 Q58EX2 SDK2_HUMAN sidekick cell adhesion molecule 2 1806 Fibronectin type-III 12. cell adhesion integral to membrane breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 86 CCCGTAGGTGAAGGTCTTGGC 0.632000 14 17 0 0 0.000308642 0 0 RAPGEF3 10411 broad.mit.edu 37 12 48143586 48143586 + Missense_Mutation SNP C C T TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr12:48143586C>T ENST00000405493.2 - 9 915 c.706G>A c.(706-708)Gac>Aac p.D236N RAPGEF3_ENST00000395358.3_Missense_Mutation_p.D278N|RAPGEF3_ENST00000389212.3_Missense_Mutation_p.D278N|RAPGEF3_ENST00000171000.4_Missense_Mutation_p.D236N|RAPGEF3_ENST00000449771.2_Missense_Mutation_p.D278N|RAPGEF3_ENST00000549151.1_Missense_Mutation_p.D236N|RAPGEF3_ENST00000548919.1_Missense_Mutation_p.D236N NM_001098532.2|NM_006105.5 NP_001092002.1|NP_006096.2 A8K2G5 A8K2G5_HUMAN Rap guanine nucleotide exchange factor (GEF) 3 236 regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cAMP-dependent protein kinase complex cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7) 25 Lung SC(27;0.192) GBM - Glioblastoma multiforme(48;0.0375) GTGCCCTTGTCCCCCTGGCTG 0.602000 27 61 0 0 0.000720815 0 0 PRB3 5544 broad.mit.edu 37 12 11420589 11420589 + RNA SNP T T C rs71057717 TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr12:11420589T>C ENST00000381842.3 - 0 631 PRB3_ENST00000440870.3_RNA|PRB3_ENST00000538488.1_RNA|PRB3_ENST00000279573.6_RNA NM_006249.4 NP_006240.4 Q04118 PRB3_HUMAN proline-rich protein BstNI subfamily 3 extracellular region Gram-negative bacterial cell surface binding breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5) 25 OV - Ovarian serous cystadenocarcinoma(49;0.201) CCGGACGAGGTGGGGGACCTT 0.637000 6 197 0 0 8.12818e-05 0 0 SLC7A3 84889 broad.mit.edu 37 X 70147773 70147773 + Silent SNP G G A TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chrX:70147773G>A ENST00000374299.3 - 6 1062 c.918C>T c.(916-918)ctC>ctT p.L306L SLC7A3_ENST00000298085.4_Silent_p.L306L Q8WY07 CTR3_HUMAN solute carrier family 7 (cationic amino acid transporter, y+ system), member 3 306 cellular nitrogen compound metabolic process integral to membrane|plasma membrane breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1) 31 Renal(35;0.156) L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129) TCATCAGGGTGAGTGCAGAAG 0.527000 6 23 0 0 0.00116845 0 0 HRNR 388697 broad.mit.edu 37 1 152187041 152187041 + Missense_Mutation SNP G G T TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr1:152187041G>T ENST00000368801.2 - 3 7139 c.7064C>A c.(7063-7065)aCt>aAt p.T2355N FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 2355 keratinization calcium ion binding|protein binding autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TCCATGCTGAGTGTAACCAGA 0.557000 85 654 1.7666e-45 1.31033e-44 0.000781405 1 0 ANK3 288 broad.mit.edu 37 10 61802491 61802491 + Silent SNP C C T TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr10:61802491C>T ENST00000280772.1 - 43 13283 c.13092G>A c.(13090-13092)acG>acA p.T4364T ANK3_ENST00000503366.1_Silent_p.T1855T|ANK3_ENST00000355288.2_Silent_p.T988T|ANK3_ENST00000373827.2_Silent_p.T1848T NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 4364 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 TTTCTTTCTTCGTTTTCACCT 0.398000 21 62 0 0 0.000375601 0 0 CLEC4M 10332 broad.mit.edu 37 19 7830505 7830505 + Missense_Mutation SNP C C T TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr19:7830505C>T ENST00000359059.5 + 3 251 c.133C>T c.(133-135)Cct>Tct p.P45S CLEC4M_ENST00000357361.2_Intron|CLEC4M_ENST00000334806.5_Intron|CLEC4M_ENST00000248228.4_Intron|CLEC4M_ENST00000596363.1_Intron|CLEC4M_ENST00000597522.1_Intron|CLEC4M_ENST00000596707.1_Missense_Mutation_p.P45S|CLEC4M_ENST00000327325.5_Intron|CLEC4M_ENST00000595496.1_Missense_Mutation_p.P45S|CLEC4M_ENST00000394122.2_Intron NM_001144906.1|NM_001144907.1 NP_001138378.1|NP_001138379.1 Q9H2X3 CLC4M_HUMAN C-type lectin domain family 4, member M 66 cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor cytoplasm|extracellular region|integral to plasma membrane ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1) 26 aattgcagttcCTTTTCTTCT 0.493000 13 41 0 0 0.00136819 0 0 ADAMTS19 171019 broad.mit.edu 37 5 129037099 129037099 + Nonsense_Mutation SNP G G A TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr5:129037099G>A ENST00000274487.4 + 20 3100 c.2955G>A c.(2953-2955)tgG>tgA p.W985* ADAMTS19_ENST00000509467.1_3'UTR|CTC-575N7.1_ENST00000503616.1_RNA NM_133638.3 NP_598377.3 Q8TE59 ATS19_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 19 985 TSP type-1 3. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6) 91 all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.222) TGACAGAATGGACCCCTTGTT 0.438000 13 69 0 0 0.000566183 0 0 ALMS1 7840 broad.mit.edu 37 2 73747010 73747010 + Silent SNP T T C TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr2:73747010T>C ENST00000264448.6 + 11 9756 c.9645T>C c.(9643-9645)tcT>tcC p.S3215S ALMS1_ENST00000409009.1_Silent_p.S3173S NM_015120.4 NP_055935.4 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 3215 G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 147 TATTTTCATCTGAGATTTTTA 0.398000 19 41 0 0 0.000229342 0 0 BRD4 23476 broad.mit.edu 37 19 15366921 15366921 + Missense_Mutation SNP G G A TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr19:15366921G>A ENST00000263377.2 - 9 1926 c.1705C>T c.(1705-1707)Cct>Tct p.P569S BRD4_ENST00000371835.4_Missense_Mutation_p.P569S|BRD4_ENST00000360016.5_Missense_Mutation_p.P569S NM_058243.2 NP_490597.1 O60885 BRD4_HUMAN bromodomain containing 4 569 Lys-rich. interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle condensed nuclear chromosome|cytoplasm protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18) tttttaggaggaggttccttg 0.428000 T C15orf55 lethal midline carcinoma of young people 9 17 0 0 0.000274275 0 0 SPTBN4 57731 broad.mit.edu 37 19 41008156 41008156 + Missense_Mutation SNP C C T TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr19:41008156C>T ENST00000352632.3 + 9 1105 c.1019C>T c.(1018-1020)tCc>tTc p.S340F SPTBN4_ENST00000338932.3_Missense_Mutation_p.S340F|SPTBN4_ENST00000595535.1_Missense_Mutation_p.S340F|SPTBN4_ENST00000598249.1_Missense_Mutation_p.S340F|SPTBN4_ENST00000344104.3_Missense_Mutation_p.S340F Q9H254 SPTN4_HUMAN spectrin, beta, non-erythrocytic 4 340 actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport cytosol|nuclear matrix|PML body|spectrin actin binding|ankyrin binding|structural constituent of cytoskeleton p.S340F(1) breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 73 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) TTTGCCAACTCCTTAAGTGGG 0.602000 16 64 0 0 0.000308642 0 0 DLST 1743 broad.mit.edu 37 14 75367876 75367876 + Silent SNP T T C TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr14:75367876T>C ENST00000334220.4 + 14 1228 c.1167T>C c.(1165-1167)ccT>ccC p.P389P DLST_ENST00000334212.6_Silent_p.P303P NM_001933.4 NP_001924.2 P36957 ODO2_HUMAN dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex) 389 lysine catabolic process|tricarboxylic acid cycle mitochondrial matrix|nucleus dihydrolipoyllysine-residue succinyltransferase activity breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 BRCA - Breast invasive adenocarcinoma(234;0.00698) TCAACCCCCCTCAGTCTGCCA 0.512000 19 51 0 0 0.00152264 0 0 AQP6 363 broad.mit.edu 37 12 50367208 50367208 + Silent SNP C C T rs147805945 TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr12:50367208C>T ENST00000315520.5 + 1 589 c.252C>T c.(250-252)gcC>gcT p.A84A AQP6_ENST00000551733.1_Intron NM_001652.3 NP_001643.2 Q13520 AQP6_HUMAN aquaporin 6, kidney specific 84 excretion|odontogenesis integral to plasma membrane|transport vesicle membrane anion channel activity|water channel activity endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(2) 13 CCAACCCCGCCGTGACGCTGG 0.672000 15 33 0 0 0.000958276 0 0 ZNF737 100129842 broad.mit.edu 37 19 20736569 20736569 + Missense_Mutation SNP G G A TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr19:20736569G>A ENST00000427401.4 - 2 170 c.76C>T c.(76-78)Cgg>Tgg p.R26W ZNF737_ENST00000596797.1_Missense_Mutation_p.R26W NM_001159293.1 NP_001152765.1 C9JHM3 C9JHM3_HUMAN zinc finger protein 737 26 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1) 13 TATAAATTCCGCTGTGCAGTG 0.393000 10 95 0 0 0.00136819 0 0 RADIL 55698 broad.mit.edu 37 7 4871806 4871806 + Missense_Mutation SNP T T G TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr7:4871806T>G ENST00000399583.3 - 5 1607 c.1420A>C c.(1420-1422)Aaa>Caa p.K474Q RADIL_ENST00000536091.1_Missense_Mutation_p.K474Q|RADIL_ENST00000538469.1_Missense_Mutation_p.K234Q NM_018059.4 NP_060529.4 Q96JH8 RADIL_HUMAN Ras association and DIL domains 474 cell adhesion|multicellular organismal development|signal transduction protein binding NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15) TCTTTGGTTTTCTCCTACAAT 0.517000 9 12 0 0 0.000673444 0 0 OR2Z1 284383 broad.mit.edu 37 19 8841397 8841397 + Missense_Mutation SNP G G A TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr19:8841397G>A ENST00000324060.2 + 1 82 c.7G>A c.(7-9)Gat>Aat p.D3N NM_001004699.1 NP_001004699.1 Q8NG97 OR2Z1_HUMAN olfactory receptor, family 2, subfamily Z, member 1 3 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 AAACATGGGGGATGTGAATCA 0.498000 11 29 0 0 0.000978159 0 0 ITGA4 3676 broad.mit.edu 37 2 182346331 182346331 + Missense_Mutation SNP C C T TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr2:182346331C>T ENST00000397033.2 + 7 1191 c.761C>T c.(760-762)tCa>tTa p.S254L NM_000885.4 NP_000876.3 P13612 ITA4_HUMAN integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) 254 blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response integrin complex identical protein binding|receptor activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 OV - Ovarian serous cystadenocarcinoma(117;0.0593) Natalizumab(DB00108) AAAGGATATTCAGTCGGAGCT 0.373000 10 23 0 0 0.000978159 0 0 SPTBN4 57731 broad.mit.edu 37 19 41008157 41008157 + Silent SNP C C T TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr19:41008157C>T ENST00000352632.3 + 9 1106 c.1020C>T c.(1018-1020)tcC>tcT p.S340S SPTBN4_ENST00000338932.3_Silent_p.S340S|SPTBN4_ENST00000595535.1_Silent_p.S340S|SPTBN4_ENST00000598249.1_Silent_p.S340S|SPTBN4_ENST00000344104.3_Silent_p.S340S Q9H254 SPTN4_HUMAN spectrin, beta, non-erythrocytic 4 340 actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport cytosol|nuclear matrix|PML body|spectrin actin binding|ankyrin binding|structural constituent of cytoskeleton breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 73 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) TTGCCAACTCCTTAAGTGGGG 0.602000 16 64 0 0 0.000308642 0 0 BCOR 54880 broad.mit.edu 37 X 39932638 39932638 + Missense_Mutation SNP G G A TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chrX:39932638G>A ENST00000342274.4 - 4 2323 c.1961C>T c.(1960-1962)cCc>cTc p.P654L BCOR_ENST00000397354.3_Missense_Mutation_p.P654L|BCOR_ENST00000378444.4_Missense_Mutation_p.P654L|BCOR_ENST00000378455.4_Missense_Mutation_p.P654L NM_001123383.1 NP_001116855.1 Q6W2J9 BCOR_HUMAN BCL6 corepressor 654 Pro-rich. heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent nucleus heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 126 GTAACTCCTGGGGTAGGGAAT 0.522000 """F, N, S, T""" RARA """retinoblastoma, AML, APL(translocation)""" oculo-facio-cardio-dental genetic 7 22 0 0 8.12818e-05 0 0 C1QTNF2 114898 broad.mit.edu 37 5 159776386 159776386 + Missense_Mutation SNP C C T TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr5:159776386C>T ENST00000393975.3 - 3 785 c.782G>A c.(781-783)gGc>gAc p.G261D NM_031908.4 NP_114114.2 Q9BXJ5 C1QT2_HUMAN C1q and tumor necrosis factor related protein 2 216 C1q. collagen breast(2)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(3) 13 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.116) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GCGGTACTGGCCGTTGTGCAC 0.607000 6 36 0 0 0.00116845 0 0 CSMD1 64478 broad.mit.edu 37 8 3224606 3224606 + Silent SNP C C T TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr8:3224606C>T ENST00000520002.1 - 21 3621 c.3066G>A c.(3064-3066)cgG>cgA p.R1022R CSMD1_ENST00000542608.1_Silent_p.R1021R|CSMD1_ENST00000537824.1_Silent_p.R1021R|CSMD1_ENST00000539096.1_Silent_p.R1021R|CSMD1_ENST00000602723.1_Silent_p.R1022R|CSMD1_ENST00000400186.3_Silent_p.R1022R|CSMD1_ENST00000602557.1_Silent_p.R1022R Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 1022 CUB 6. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) CTGATATAAACCGAAGCTGGG 0.488000 5 25 0 0 8.12818e-05 0 0 OPN4 94233 broad.mit.edu 37 10 88419746 88419746 + Silent SNP C C T TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr10:88419746C>T ENST00000372071.2 + 7 1155 c.928C>T c.(928-930)Ctg>Ttg p.L310L OPN4_ENST00000241891.5_Silent_p.L299L NM_001030015.2 NP_001025186.1 Q9UHM6 OPN4_HUMAN opsin 4 299 phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception integral to membrane|plasma membrane 11-cis retinal binding|G-protein coupled photoreceptor activity breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3) 18 CAAGATCATGCTGCTGGTCAT 0.622000 12 22 0 0 0.000219431 0 0 CYSLTR2 57105 broad.mit.edu 37 13 49280991 49280991 + Missense_Mutation SNP C C T TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr13:49280991C>T ENST00000282018.3 + 1 41 c.38C>T c.(37-39)tCc>tTc p.S13F NM_020377.2 NP_065110.1 Q9NS75 CLTR2_HUMAN cysteinyl leukotriene receptor 2 13 immune response integral to membrane|plasma membrane endometrium(2)|large_intestine(4)|lung(12)|skin(2) 20 all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787) GBM - Glioblastoma multiforme(99;1.19e-09) Nedocromil(DB00716) CCATCCATCTCCGTATCAGAA 0.373000 37 44 0 0 0.000589545 0 0 HRNR 388697 broad.mit.edu 37 1 152187040 152187040 + Silent SNP A A T TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr1:152187040A>T ENST00000368801.2 - 3 7140 c.7065T>A c.(7063-7065)acT>acA p.T2355T FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 2355 keratinization calcium ion binding|protein binding autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) ATCCATGCTGAGTGTAACCAG 0.557000 83 643 0 0 0.000781405 0 0 CD96 10225 broad.mit.edu 37 3 111317000 111317000 + Missense_Mutation SNP C C T TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr3:111317000C>T ENST00000352690.4 + 6 1081 c.841C>T c.(841-843)Ccc>Tcc p.P281S CD96_ENST00000283285.5_Missense_Mutation_p.P297S|CD96_ENST00000438817.2_Missense_Mutation_p.P281S NM_005816.4 NP_005807.1 P40200 TACT_HUMAN CD96 molecule 297 Ig-like C2-type. cell adhesion|immune response|regulation of immune response integral to plasma membrane central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5) 35 GAATGTATTTCCCAAAGCAAA 0.323000 Opitz Trigonocephaly syndrome 98 186 0 0 0.000781405 0 0 GNPDA2 132789 broad.mit.edu 37 4 44709924 44709924 + Missense_Mutation SNP C C T TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr4:44709924C>T ENST00000509756.1 - 6 720 c.614G>A c.(613-615)gGg>gAg p.G205E GNPDA2_ENST00000511187.1_5'UTR|GNPDA2_ENST00000507534.1_Missense_Mutation_p.G135E|GNPDA2_ENST00000507917.1_Missense_Mutation_p.G171E|GNPDA2_ENST00000295448.3_Missense_Mutation_p.G205E Q8TDQ7 GNPI2_HUMAN glucosamine-6-phosphate deaminase 2 205 N-acetylglucosamine metabolic process cytoplasm glucosamine-6-phosphate deaminase activity|hydrolase activity endometrium(2)|large_intestine(1)|lung(7)|ovary(1) 11 CTTGTGTGCCCCTGTTATAAG 0.378000 16 30 0 0 0.00152264 0 0 PCDHGA7 56108 broad.mit.edu 37 5 140763310 140763310 + Missense_Mutation SNP C C T TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr5:140763310C>T ENST00000518325.1 + 1 844 c.844C>T c.(844-846)Cgg>Tgg p.R282W PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron NM_018920.2 NP_061743.1 NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1) 49 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATATTCTTTTCGGAAAATAAC 0.423000 14 28 0 0 0.000219431 0 0 VNN3 55350 broad.mit.edu 37 6 133044077 133044077 + Silent SNP C C T TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr6:133044077C>T ENST00000207771.3 - 8 1563 c.1491G>A c.(1489-1491)ggG>ggA p.G497G VNN3_ENST00000427187.2_3'UTR|VNN3_ENST00000423615.2_3'UTR|VNN3_ENST00000425515.2_3'UTR|VNN3_ENST00000519686.2_3'UTR|VNN3_ENST00000509351.1_3'UTR|VNN3_ENST00000367927.5_3'UTR|VNN3_ENST00000392393.3_3'UTR|VNN3_ENST00000275223.3_3'UTR|VNN3_ENST00000417437.2_3'UTR|VNN3_ENST00000414302.2_3'UTR vanin 3 cervix(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1) 8 Breast(56;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00242)|GBM - Glioblastoma multiforme(226;0.0168) ACTGGAATTTCCCAGATCCCT 0.473000 5 26 0 0 8.12818e-05 0 0 KCNC2 3747 broad.mit.edu 37 12 75444664 75444664 + Missense_Mutation SNP G G A TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr12:75444664G>A ENST00000549446.1 - 3 1801 c.1121C>T c.(1120-1122)aCt>aTt p.T374I KCNC2_ENST00000548243.1_5'UTR|KCNC2_ENST00000393288.2_Missense_Mutation_p.T374I|KCNC2_ENST00000550433.1_Missense_Mutation_p.T374I|KCNC2_ENST00000350228.2_Missense_Mutation_p.T374I|KCNC2_ENST00000548513.1_Missense_Mutation_p.T374I|KCNC2_ENST00000341669.3_Missense_Mutation_p.T374I|KCNC2_ENST00000540018.1_Missense_Mutation_p.T374I|KCNC2_ENST00000298972.1_Missense_Mutation_p.T374I NM_001260497.1|NM_139137.3 NP_001247426.1|NP_631875.1 Q96PR1 KCNC2_HUMAN potassium voltage-gated channel, Shaw-related subfamily, member 2 374 energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex voltage-gated potassium channel activity breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 54 AGCTCGAAGAGTATGTCCAAG 0.443000 9 34 0 0 0.000978159 0 0 TRPC5 7224 broad.mit.edu 37 X 111195594 111195594 + Missense_Mutation SNP G G A TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chrX:111195594G>A ENST00000262839.2 - 2 973 c.55C>T c.(55-57)Ccc>Tcc p.P19S NM_012471.2 NP_036603.1 Q9UL62 TRPC5_HUMAN transient receptor potential cation channel, subfamily C, member 5 19 axon guidance calcium channel complex|integral to plasma membrane protein binding|store-operated calcium channel activity biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 ATTTGCAGGGGGATGCGGTCT 0.517000 11 33 0 0 0.000978159 0 0 DENND4A 10260 broad.mit.edu 37 15 65988718 65988718 + Missense_Mutation SNP G G A TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr15:65988718G>A ENST00000443035.3 - 22 3280 c.3065C>T c.(3064-3066)tCa>tTa p.S1022L DENND4A_ENST00000431932.2_Missense_Mutation_p.S979L NM_001144823.1 NP_001138295.1 Q7Z401 MYCPP_HUMAN DENN/MADD domain containing 4A 979 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 51 GCTTTCTCCTGATATTTTACC 0.358000 28 51 0 0 0.00178596 0 0 HORMAD1 84072 broad.mit.edu 37 1 150679276 150679276 + Missense_Mutation SNP G G A TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr1:150679276G>A ENST00000368993.2 - 10 662 c.557C>T c.(556-558)cCa>cTa p.P186L HORMAD1_ENST00000368995.4_Missense_Mutation_p.P106L|HORMAD1_ENST00000361824.2_Missense_Mutation_p.P186L|HORMAD1_ENST00000322343.7_Missense_Mutation_p.P179L Q86X24 HORM1_HUMAN HORMA domain containing 1 186 HORMA. blastocyst development|cell differentiation|meiotic DNA double-strand break formation|meiotic recombination checkpoint|meiotic sister chromatid cohesion|mitosis|oogenesis|regulation of homologous chromosome segregation|spermatogenesis|synaptonemal complex assembly chromosome|nucleus breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(3) 16 all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171) CTGGTAATCTGGGGGTGTAAC 0.353000 38 22 0 0 0.00170553 0 0 UHRF1BP1 54887 broad.mit.edu 37 6 34826330 34826330 + Missense_Mutation SNP C C T TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr6:34826330C>T ENST00000192788.5 + 14 2368 c.2197C>T c.(2197-2199)Cgc>Tgc p.R733C UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.R733C NM_017754.3 NP_060224.3 Q6BDS2 URFB1_HUMAN UHRF1 binding protein 1 733 breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 54 CCTACCCCTCCGCTGGCAGCA 0.552000 6 20 0 0 8.12818e-05 0 0 PCSK5 5125 broad.mit.edu 37 9 78973505 78973505 + Silent SNP C C T TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr9:78973505C>T ENST00000545128.1 + 37 5788 c.5250C>T c.(5248-5250)tcC>tcT p.S1750S NM_001190482.1 NP_001177411.1 Q92824 PCSK5_HUMAN proprotein convertase subtilisin/kexin type 5 0 anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release extracellular space|Golgi lumen|stored secretory granule peptide binding|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 TCACCTCCTCCATGATGCTGG 0.532000 26 13 0 0 0.000720815 0 0 VIL1 7429 broad.mit.edu 37 2 219294086 219294086 + Missense_Mutation SNP G G A TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr2:219294086G>A ENST00000248444.5 + 7 734 c.646G>A c.(646-648)Gaa>Aaa p.E216K VIL1_ENST00000392114.2_Intron|VIL1_ENST00000440053.1_Missense_Mutation_p.E216K NM_007127.2 NP_009058.2 P09327 VILI_HUMAN villin 1 216 Core. actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Renal(207;0.0474) Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CGGAGAGAATGAATTGGCATC 0.647000 18 40 0 0 0.00121646 0 0 RYR3 6263 broad.mit.edu 37 15 34140564 34140564 + Missense_Mutation SNP G G A TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr15:34140564G>A ENST00000389232.4 + 94 13640 c.13570G>A c.(13570-13572)Gaa>Aaa p.E4524K RYR3_ENST00000559917.1_3'UTR|RYR3_ENST00000415757.3_Missense_Mutation_p.E4519K NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 4524 cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity p.E4523K(1) NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) ATATATCACCGAACAGCCATC 0.498000 9 77 0 0 0.000442599 0 0 MFSD9 84804 broad.mit.edu 37 2 103335191 103335191 + Silent SNP G G A TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr2:103335191G>A ENST00000258436.5 - 6 1156 c.1113C>T c.(1111-1113)gcC>gcT p.A371A NM_032718.3 NP_116107.3 Q8NBP5 MFSD9_HUMAN major facilitator superfamily domain containing 9 371 transmembrane transport integral to membrane|plasma membrane transporter activity breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1) 20 CCATGGTGGGGGCCAAGGAGT 0.612000 6 17 0 0 0.000157383 0 0 KRT23 25984 broad.mit.edu 37 17 39092676 39092676 + Silent SNP A A G TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr17:39092676A>G ENST00000209718.3 - 2 604 c.180T>C c.(178-180)ggT>ggC p.G60G AC004231.2_ENST00000418393.1_RNA|KRT23_ENST00000436344.3_Intron NM_015515.3 NP_056330.3 Q9C075 K1C23_HUMAN keratin 23 (histone deacetylase inducible) 60 Head. intermediate filament structural molecule activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 21 Breast(137;0.000301)|Ovarian(249;0.15) TTCTTCCAGAACCCCAAGACC 0.667000 29 41 0 0 0.00178596 0 0 IGKV2-24 28923 broad.mit.edu 37 2 89475866 89475866 + RNA SNP C C T TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr2:89475866C>T ENST00000484817.1 - 0 335 CAGCTTCCACCCTGCTGATTT 0.493000 30 50 0 0 0.00058488 0 0 EDC4 23644 broad.mit.edu 37 16 67913551 67913551 + Silent SNP C C T TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr16:67913551C>T ENST00000358933.5 + 15 1934 c.1695C>T c.(1693-1695)tcC>tcT p.S565S EDC4_ENST00000574770.1_3'UTR NM_014329.4 NP_055144.3 Q6P2E9 EDC4_HUMAN enhancer of mRNA decapping 4 565 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay cytoplasmic mRNA processing body|cytosol|nucleus protein binding breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 41 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121) CTCACGGCTCCCAGCCTGACC 0.607000 12 32 0 0 0.000978159 0 0 TFDP3 51270 broad.mit.edu 37 X 132351449 132351449 + Missense_Mutation SNP A A C TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chrX:132351449A>C ENST00000310125.4 - 1 927 c.839T>G c.(838-840)tTt>tGt p.F280C NM_016521.2 NP_057605.3 Q5H9I0 TFDP3_HUMAN transcription factor Dp family, member 3 280 DCB2 (By similarity).|Involved in negatively regulating E2F activity. transcription factor complex DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2) 19 Acute lymphoblastic leukemia(192;0.000127) GTTAAACTTAAACAGATATTC 0.493000 14 127 0 0 0.000308642 0 0 LIN52 91750 broad.mit.edu 37 14 74564499 74564499 + Silent SNP T T C TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr14:74564499T>C ENST00000555028.1 + 4 314 c.147T>C c.(145-147)ccT>ccC p.P49P LIN52_ENST00000554076.1_3'UTR NM_001024674.2 NP_001019845.1 Q52LA3 LIN52_HUMAN lin-52 homolog (C. elegans) 49 breast(1)|endometrium(2)|lung(2) 5 BRCA - Breast invasive adenocarcinoma(234;0.00471) TTTGACAGCCTATTACTAGTT 0.408000 7 22 0 0 0.000442599 0 0 MAGED1 9500 broad.mit.edu 37 X 51640148 51640148 + Missense_Mutation SNP G G A TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chrX:51640148G>A ENST00000375695.2 + 5 1718 c.1565G>A c.(1564-1566)cGa>cAa p.R522Q MAGED1_ENST00000375722.1_Missense_Mutation_p.R466Q|MAGED1_ENST00000326587.7_Missense_Mutation_p.R466Q|MAGED1_ENST00000375772.3_Missense_Mutation_p.R466Q|MAGED1_ENST00000494718.1_3'UTR NM_001005333.1 NP_001005333.1 Q9Y5V3 MAGD1_HUMAN melanoma antigen family D, 1 466 MAGE. apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent cytoplasm|plasma membrane|protein complex protein binding breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1) 32 Ovarian(276;0.236) GCACAGCCCCGAGATGTGGCC 0.547000 Multiple Myeloma(10;0.10) 7 24 0 0 0.000274275 0 0 SEZ6L 23544 broad.mit.edu 37 22 26688508 26688508 + Silent SNP G G A TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr22:26688508G>A ENST00000529632.2 + 2 427 c.231G>A c.(229-231)gcG>gcA p.A77A SEZ6L_ENST00000248933.6_Silent_p.A77A|SEZ6L_ENST00000402979.1_5'UTR|SEZ6L_ENST00000404234.3_Silent_p.A77A|SEZ6L_ENST00000403121.1_5'UTR|SEZ6L_ENST00000343706.4_Silent_p.A77A|SEZ6L_ENST00000360929.3_Silent_p.A77A NM_001184774.1|NM_001184775.1|NM_001184777.1 NP_001171703.1|NP_001171704.1|NP_001171706.1 Q9BYH1 SE6L1_HUMAN seizure related 6 homolog (mouse)-like 77 endoplasmic reticulum membrane|integral to membrane breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 80 CACAGTCGGCGGAAGTGCTGG 0.652000 5 10 0 0 0.00116845 0 0 ASPHD2 57168 broad.mit.edu 37 22 26838430 26838430 + Nonsense_Mutation SNP A A T TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr22:26838430A>T ENST00000215906.5 + 3 1330 c.892A>T c.(892-894)Aaa>Taa p.K298* NM_020437.4 NP_065170.2 Q6ICH7 ASPH2_HUMAN aspartate beta-hydroxylase domain containing 2 298 peptidyl-amino acid modification integral to endoplasmic reticulum membrane oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1) 16 ACAAGGTCTGAAAACTCCAAA 0.532000 47 102 0 0 0.000781405 0 0 SLC16A3 9123 broad.mit.edu 37 17 80195441 80195441 + Silent SNP C C T TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr17:80195441C>T ENST00000581287.1 + 3 3117 c.795C>T c.(793-795)ttC>ttT p.F265F SLC16A3_ENST00000392339.1_Silent_p.F265F|SLC16A3_ENST00000392341.1_Silent_p.F265F|SLC16A3_ENST00000582743.1_Silent_p.F265F NM_001206951.1|NM_001206952.1 NP_001193880.1|NP_001193881.1 O15427 MOT4_HUMAN solute carrier family 16 (monocarboxylate transporter), member 3 265 blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process actin cytoskeleton|integral to plasma membrane|membrane fraction|nuclear membrane secondary active monocarboxylate transmembrane transporter activity|symporter activity endometrium(2)|kidney(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 9 Breast(20;0.00285)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227) OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0149) Pyruvic acid(DB00119) AGGCCGCCTTCCTGCTCACCA 0.682000 7 39 0 0 0.000274275 0 0 FOXJ2 55810 broad.mit.edu 37 12 8200805 8200805 + Missense_Mutation SNP C C T TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr12:8200805C>T ENST00000162391.3 + 7 2290 c.1145C>T c.(1144-1146)cCc>cTc p.P382L FOXJ2_ENST00000428177.2_Missense_Mutation_p.P382L NM_018416.2 NP_060886.1 Q9P0K8 FOXJ2_HUMAN forkhead box J2 382 embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development nucleolus|transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 16 Kidney(36;0.0944) CAGCACCATCCCCACTCCCAC 0.627000 6 13 0 0 0.00116845 0 0 OR5T1 390155 broad.mit.edu 37 11 56043751 56043751 + Missense_Mutation SNP T T C TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr11:56043751T>C ENST00000313033.2 + 1 723 c.637T>C c.(637-639)Tac>Cac p.Y213H NM_001004745.1 NP_001004745.1 Q8NG75 OR5T1_HUMAN olfactory receptor, family 5, subfamily T, member 1 213 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.Y213H(1) NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 43 Esophageal squamous(21;0.00448) TCTATTCTTCTACTTTGTGGG 0.418000 19 128 0 0 0.000958276 0 0 MIR99AHG 388815 broad.mit.edu 37 21 17443631 17443631 + RNA SNP C C T TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr21:17443631C>T ENST00000458468.1 + 0 225 NR_027790.1 CAACCGCTGCCCGAGCAGGCA 0.522000 4 45 0 0 0.00024832 0 0 NRAS 4893 broad.mit.edu 37 1 115256529 115256529 + Missense_Mutation SNP T T C rs11554290 TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr1:115256529T>C ENST00000369535.4 - 3 435 c.182A>G c.(181-183)cAa>cGa p.Q61R NM_002524.4 NP_002515.1 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene homolog 61 Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290). 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 Golgi membrane|plasma membrane GTP binding|GTPase activity p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1) NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13) 3085 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) GTACTCTTCTTGTCCAGCTGT 0.458000 Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID) 50 Mis """melanoma, MM, AML, thyroid""" Noonan syndrome TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6) 97 63 0 0 0.000781405 0 0 RPL23AP53 644128 broad.mit.edu 37 8 163215 163215 + RNA SNP G G A TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr8:163215G>A ENST00000606975.1 - 0 706 AGATACACATGTATTTAGAGT 0.323000 6 43 0 0 0.000442599 0 0 PPP6C 5537 broad.mit.edu 37 9 127915952 127915952 + Nonsense_Mutation SNP G G A TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr9:127915952G>A ENST00000451402.1 - 7 860 c.640C>T c.(640-642)Cga>Tga p.R214* PPP6C_ENST00000415905.1_Nonsense_Mutation_p.R155*|PPP6C_ENST00000373546.3_Nonsense_Mutation_p.R30*|PPP6C_ENST00000373547.4_Nonsense_Mutation_p.R177* NM_001123355.1 NP_001116827.1 O00743 PPP6_HUMAN protein phosphatase 6, catalytic subunit 177 G1/S transition of mitotic cell cycle|protein dephosphorylation cytosol metal ion binding|protein binding|protein serine/threonine phosphatase activity NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3) 14 TCGATGGTTCGAATTTGATCC 0.408000 22 21 0 0 0.000295444 0 0 PARP12 64761 broad.mit.edu 37 7 139734127 139734127 + Silent SNP G G A TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr7:139734127G>A ENST00000263549.3 - 8 2202 c.1329C>T c.(1327-1329)ttC>ttT p.F443F PARP12_ENST00000470515.1_5'UTR NM_022750.2 NP_073587.1 Q9H0J9 PAR12_HUMAN poly (ADP-ribose) polymerase family, member 12 443 WWE 2. nucleus NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1) 19 Melanoma(164;0.0142) TTTTCTGAACGAAGGCTGAAA 0.378000 9 23 0 0 0.000442599 0 0 C6orf47 57827 broad.mit.edu 37 6 31627574 31627574 + Missense_Mutation SNP C C T TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr6:31627574C>T ENST00000375911.1 - 1 975 c.151G>A c.(151-153)Gaa>Aaa p.E51K C6orf47-AS1_ENST00000422049.1_RNA NM_021184.3 NP_067007.3 O95873 CF047_HUMAN chromosome 6 open reading frame 47 51 NS(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)|skin(1) 9 CCCACATCTTCCATGGTTTCT 0.577000 27 169 0 0 0.000878237 0 0 KCNH6 81033 broad.mit.edu 37 17 61622553 61622553 + Silent SNP C C T TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr17:61622553C>T ENST00000583023.1 + 13 2630 c.2619C>T c.(2617-2619)gcC>gcT p.A873A KCNH6_ENST00000581784.1_Silent_p.A784A|KCNH6_ENST00000456941.2_Silent_p.A784A|KCNH6_ENST00000314672.5_Silent_p.A837A NM_030779.2 NP_110406.1 Q9H252 KCNH6_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 6 873 regulation of transcription, DNA-dependent|signal transduction breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 Ibutilide(DB00308) ATGACCTGGCCTTGGTTCCTA 0.632000 9 61 0 0 0.000274275 0 0 NUTM1 256646 broad.mit.edu 37 15 34648262 34648262 + Missense_Mutation SNP G G A TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr15:34648262G>A ENST00000537011.1 + 8 2435 c.2053G>A c.(2053-2055)Gga>Aga p.G685R NUTM1_ENST00000333756.4_Missense_Mutation_p.G657R|NUTM1_ENST00000438749.3_Missense_Mutation_p.G675R NUT midline carcinoma, family member 1 GCAAGTCCTGGGATTGCAGAA 0.567000 9 38 0 0 0.000442599 0 0 PLEC 5339 broad.mit.edu 37 8 144999609 144999609 + Silent SNP G G A TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr8:144999609G>A ENST00000322810.4 - 31 5068 c.4899C>T c.(4897-4899)gcC>gcT p.A1633A PLEC_ENST00000436759.2_Silent_p.A1523A|PLEC_ENST00000398774.2_Silent_p.A1464A|PLEC_ENST00000354958.2_Silent_p.A1474A|PLEC_ENST00000345136.3_Silent_p.A1496A|PLEC_ENST00000357649.2_Silent_p.A1500A|PLEC_ENST00000527096.1_Silent_p.A1519A|PLEC_ENST00000354589.3_Silent_p.A1496A|PLEC_ENST00000356346.3_Silent_p.A1482A NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 1633 Central fibrous rod domain. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 GCAAGCGCTCGGCCTCCTCCT 0.741000 5 11 0 0 0.000602214 0 0 OCRL 4952 broad.mit.edu 37 X 128696746 128696746 + Missense_Mutation SNP G G T TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chrX:128696746G>T ENST00000371113.4 + 12 1392 c.1227G>T c.(1225-1227)ttG>ttT p.L409F OCRL_ENST00000357121.5_Missense_Mutation_p.L409F NM_000276.3 NP_000267.2 Q01968 OCRL_HUMAN oculocerebrorenal syndrome of Lowe 409 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3) 48 TCCCGCAGTTGAACATCATGA 0.433000 14 66 4.3838e-07 3.21687e-06 0.000151284 1 0 SORCS2 57537 broad.mit.edu 37 4 7716002 7716002 + Silent SNP C C T TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr4:7716002C>T ENST00000507866.2 + 16 2134 c.2025C>T c.(2023-2025)ttC>ttT p.F675F SORCS2_ENST00000329016.9_Silent_p.F503F NM_020777.2 NP_065828.2 Q96PQ0 SORC2_HUMAN sortilin-related VPS10 domain containing receptor 2 675 integral to membrane neuropeptide receptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 42 AGAGAAGTTTCCGGAAAAGAA 0.602000 8 3 0 0 0.000673444 0 0 PTPN4 5775 broad.mit.edu 37 2 120723176 120723176 + Missense_Mutation SNP G G A TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr2:120723176G>A ENST00000263708.2 + 25 3284 c.2513G>A c.(2512-2514)cGa>cAa p.R838Q PTPN4_ENST00000544261.1_Missense_Mutation_p.R471Q NM_002830.3 NP_002821.1 P29074 PTN4_HUMAN protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte) 838 Tyrosine-protein phosphatase. cytoplasm|cytoskeleton|internal side of plasma membrane cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1) 30 Alendronate(DB00630) TGTCATGTACGAAACAAGAGG 0.438000 12 32 0 0 0.00136819 0 0 ZCRB1 85437 broad.mit.edu 37 12 42707759 42707759 + Silent SNP C C G TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr12:42707759C>G ENST00000266529.3 - 6 546 c.363G>C c.(361-363)ccG>ccC p.P121P PPHLN1_ENST00000549190.1_Intron|ZCRB1_ENST00000552673.1_Silent_p.P80P NM_033114.3 NP_149105.3 Q8TBF4 ZCRB1_HUMAN zinc finger CCHC-type and RNA binding motif 1 121 mRNA processing nucleoplasm|U12-type spliceosomal complex nucleotide binding|RNA binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|skin(2) 8 all_cancers(12;0.000348)|Breast(8;0.221) Lung NSC(34;0.123) GBM - Glioblastoma multiforme(48;0.0689) GCATATTTTTCGGACAGGCAT 0.328000 11 40 0 0 0.000422831 0 0 NLRP4 147945 broad.mit.edu 37 19 56373427 56373427 + Silent SNP G G A TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr19:56373427G>A ENST00000301295.6 + 5 2510 c.2088G>A c.(2086-2088)ttG>ttA p.L696L NLRP4_ENST00000587891.1_Silent_p.L621L|NLRP4_ENST00000346986.5_Silent_p.L696L NM_134444.4 NP_604393.2 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 696 ATP binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8) 42 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) AGCCAGACTTGAAATACCTGA 0.443000 35 67 0 0 0.000953801 0 0 TTN 7273 broad.mit.edu 37 2 179587136 179587136 + Missense_Mutation SNP T T C TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr2:179587136T>C ENST00000589042.1 - 77 22602 c.22378A>G c.(22378-22380)Aga>Gga p.R7460G TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.R6216G|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R7143G NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 7143 Ig-like 56. 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) TCATCGTCTCTTAAAAGTACT 0.413000 13 49 0 0 0.00136819 0 0 MSL3 10943 broad.mit.edu 37 X 11782035 11782035 + Missense_Mutation SNP G G A TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chrX:11782035G>A ENST00000337339.2 + 8 913 c.886G>A c.(886-888)Gaa>Aaa p.E296K MSL3_ENST00000361672.2_Missense_Mutation_p.E147K|MSL3_ENST00000312196.4_Missense_Mutation_p.E296K|MSL3_ENST00000380693.3_Missense_Mutation_p.E130K|MSL3_ENST00000398527.2_Missense_Mutation_p.E284K NM_078628.1 NP_523352.1 Q8N5Y2 MS3L1_HUMAN male-specific lethal 3 homolog (Drosophila) 296 histone H4-K16 acetylation|multicellular organismal development|transcription from RNA polymerase II promoter MSL complex DNA binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1) 19 TCCAATTAAGGAAAGTGCCAC 0.373000 14 79 0 0 0.000308642 0 0 GP1BA 2811 broad.mit.edu 37 17 4836484 4836484 + Silent SNP C C T TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr17:4836484C>T ENST00000329125.5 + 2 660 c.585C>T c.(583-585)ctC>ctT p.L195L NM_000173.5 NP_000164.5 E7ES66 E7ES66_HUMAN glycoprotein Ib (platelet), alpha polypeptide 195 central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(5)|stomach(1)|urinary_tract(1) 20 CCCTTCTCCTCCAAGAGAACT 0.532000 11 35 0 0 0.000151284 0 0 C7 730 broad.mit.edu 37 5 40959662 40959662 + Missense_Mutation SNP C C T TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr5:40959662C>T ENST00000313164.9 + 12 1960 c.1601C>T c.(1600-1602)tCc>tTc p.S534F NM_000587.2 NP_000578.2 P10643 CO7_HUMAN complement component 7 534 TSP type-1 2. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular region|membrane attack complex p.S534C(1) Ovarian(839;0.0112) GGTGGGAGATCCTGCGTTGGA 0.547000 5 4 0 0 0.000602214 0 0 SPPL3 121665 broad.mit.edu 37 12 121202819 121202819 + Missense_Mutation SNP G G C TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr12:121202819G>C ENST00000353487.2 - 11 1641 c.1138C>G c.(1138-1140)Cga>Gga p.R380G NM_139015.4 NP_620584.2 Q8TCT6 PSL4_HUMAN signal peptide peptidase like 3 381 Poly-Ser. integral to membrane aspartic-type endopeptidase activity all_neural(191;0.0684)|Medulloblastoma(191;0.0922) TCCAGGAATCGGGAGCTGCTG 0.507000 11 31 0 0 0.000673444 0 0 CHAF1B 8208 broad.mit.edu 37 21 37771827 37771827 + Missense_Mutation SNP G G T TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr21:37771827G>T ENST00000314103.4 + 7 738 c.587G>T c.(586-588)cGa>cTa p.R196L NM_005441.2 NP_005432.1 Q13112 CAF1B_HUMAN chromatin assembly factor 1, subunit B (p60) 196 cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent CAF-1 complex|cytoplasm chromatin binding|histone binding|unfolded protein binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(2) 20 AGGGTGCTGCGAGTATACAGT 0.398000 5 84 0.00116845 0.00845381 0.00116845 1 0 ZFPM2 23414 broad.mit.edu 37 8 106814337 106814337 + Missense_Mutation SNP C C T TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr8:106814337C>T ENST00000407775.2 + 8 2277 c.2027C>T c.(2026-2028)cCc>cTc p.P676L RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.P407L|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.P544L|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.P544L NM_012082.3 NP_036214.2 Q8WW38 FOG2_HUMAN zinc finger protein, FOG family member 2 676 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 99 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) CCCAGTGTCCCCTTAGTGGAT 0.428000 7 28 0 0 8.12818e-05 0 0 FLG 2312 broad.mit.edu 37 1 152285831 152285831 + Missense_Mutation SNP C C T TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr1:152285831C>T ENST00000368799.1 - 3 1566 c.1531G>A c.(1531-1533)Gag>Aag p.E511K FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 511 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TCCTGACCCTCTTGGGACGCT 0.607000 Ichthyosis 206 146 0 0 0.000781405 0 0 ZNF470 388566 broad.mit.edu 37 19 57088659 57088659 + Missense_Mutation SNP G G A TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr19:57088659G>A ENST00000330619.8 + 6 1548 c.862G>A c.(862-864)Gaa>Aaa p.E288K ZNF470_ENST00000391709.3_Missense_Mutation_p.E288K|ZNF470_ENST00000601902.1_Intron NM_001001668.3 NP_001001668.3 Q6ECI4 ZN470_HUMAN zinc finger protein 470 288 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 41 Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0294) TGAATGTACTGAATGTGGGAA 0.418000 17 62 0 0 0.00152264 0 0 LY6G6D 58530 broad.mit.edu 37 6 31675372 31675372 + Missense_Mutation SNP C C A TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr6:31675372C>A ENST00000503322.1 + 2 193 c.190C>A c.(190-192)Caa>Aaa p.Q64K LY6G6F_ENST00000556581.1_Missense_Mutation_p.Q64K|LY6G6F_ENST00000375832.4_Missense_Mutation_p.Q64K|XXbac-BPG32J3.20_ENST00000461287.1_Intron CCTGGTAGCCCAAGTCCAAGT 0.577000 8 213 0.000274275 0.00199843 0.000274275 1 0 XPNPEP2 7512 broad.mit.edu 37 X 128901630 128901630 + Missense_Mutation SNP C C T TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chrX:128901630C>T ENST00000371106.3 + 20 1984 c.1792C>T c.(1792-1794)Cgg>Tgg p.R598W NM_003399.5 NP_003390.4 O43895 XPP2_HUMAN X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound 598 cellular process|proteolysis anchored to membrane|plasma membrane aminopeptidase activity|metal ion binding|metalloexopeptidase activity endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 37 GCCCTATGACCGGAACCTCAT 0.582000 5 98 0 0 8.12818e-05 0 0 SUN3 256979 broad.mit.edu 37 7 48048663 48048663 + Missense_Mutation SNP G G A TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr7:48048663G>A ENST00000453192.2 - 5 505 c.262C>T c.(262-264)Cgt>Tgt p.R88C SUN3_ENST00000297325.4_Missense_Mutation_p.R100C|SUN3_ENST00000395572.2_Missense_Mutation_p.R100C|SUN3_ENST00000412142.1_5'UTR Q8TAQ9 SUN3_HUMAN Sad1 and UNC84 domain containing 3 100 integral to membrane central_nervous_system(1)|endometrium(3)|large_intestine(8)|liver(1)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 TTAGGCATACGAAGTCTGGCC 0.338000 38 67 0 0 0.00128727 0 0 MMAA 166785 broad.mit.edu 37 4 146563584 146563584 + Missense_Mutation SNP G G A TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr4:146563584G>A ENST00000281317.5 + 3 1719 c.509G>A c.(508-510)aGa>aAa p.R170K RP11-557J10.4_ENST00000504555.1_RNA|MMAA_ENST00000541599.1_5'UTR NM_172250.2 NP_758454.1 Q8IVH4 MMAA_HUMAN methylmalonic aciduria (cobalamin deficiency) cblA type 170 mitochondrion GTP binding|nucleoside-triphosphatase activity p.R170I(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1) 17 all_hematologic(180;0.151) Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) CTTACTGAGAGAGGGCACAAA 0.428000 18 138 0 0 0.000958276 0 0 ANKS4B 257629 broad.mit.edu 37 16 21261120 21261120 + Missense_Mutation SNP C C T TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr16:21261120C>T ENST00000311620.5 + 2 306 c.233C>T c.(232-234)gCc>gTc p.A78V NM_145865.2 NP_665872.2 Q8N8V4 ANS4B_HUMAN ankyrin repeat and sterile alpha motif domain containing 4B 78 NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2) 20 GBM - Glioblastoma multiforme(48;0.0565) AATGGCCATGCCCACTGCGTC 0.493000 8 60 0 0 0.000157383 0 0 CFAP54 144535 broad.mit.edu 37 12 97137828 97137828 + Missense_Mutation SNP C C T TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr12:97137828C>T ENST00000524981.3 + 22 2941 c.2941C>T c.(2941-2943)Cgt>Tgt p.R981C Q6ZTY8 CL063_HUMAN 955 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2) 54 AATTGAATTTCGTTCATCAAA 0.308000 11 30 0 0 0.000978159 0 0 ZFHX4 79776 broad.mit.edu 37 8 77766201 77766201 + Missense_Mutation SNP A A T TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr8:77766201A>T ENST00000521891.2 + 10 7492 c.7044A>T c.(7042-7044)caA>caT p.Q2348H ZFHX4_ENST00000518282.1_Missense_Mutation_p.Q2322H|ZFHX4_ENST00000050961.6_Missense_Mutation_p.Q2303H|ZFHX4_ENST00000455469.2_Missense_Mutation_p.Q2303H NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 2303 Pro-rich. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) ATGAAAGCCAAACAGAAGACT 0.458000 HNSCC(33;0.089) 32 109 0 0 0.000692331 0 0 SLC25A27 9481 broad.mit.edu 37 6 46623699 46623699 + Silent SNP C C T TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr6:46623699C>T ENST00000371347.5 + 2 478 c.226C>T c.(226-228)Cta>Tta p.L76L SLC25A27_ENST00000411689.2_Silent_p.L76L|SLC25A27_ENST00000452689.2_5'UTR NM_001204051.1|NM_004277.4 NP_001190980.1|NP_004268.3 O95847 UCP4_HUMAN solute carrier family 25, member 27 76 generation of precursor metabolites and energy|transport integral to membrane|mitochondrial inner membrane central_nervous_system(1)|kidney(1)|lung(4)|prostate(1)|urinary_tract(1) 8 Lung(136;0.192) GCGCACAGCTCTAGGGATCAT 0.488000 38 72 0 0 0.00128727 0 0 RBBP8 5932 broad.mit.edu 37 18 20573769 20573769 + Missense_Mutation SNP C C T TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr18:20573769C>T ENST00000399722.2 + 12 2249 c.1898C>T c.(1897-1899)cCa>cTa p.P633L RBBP8_ENST00000399725.2_Missense_Mutation_p.P633L|RBBP8_ENST00000327155.5_Missense_Mutation_p.P633L|RBBP8_ENST00000360790.5_Missense_Mutation_p.P633L NM_203291.1 NP_976036.1 Q99708 COM1_HUMAN retinoblastoma binding protein 8 633 cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter nucleus damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1) 24 all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19) OV - Ovarian serous cystadenocarcinoma(1;0.00196) CAGTTAAATCCATGTAGAACT 0.358000 Homologous recombination 15 23 0 0 0.000422831 0 0 PIGU 128869 broad.mit.edu 37 20 33232014 33232014 + Missense_Mutation SNP G G A TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr20:33232014G>A ENST00000374820.2 - 3 232 c.212C>T c.(211-213)aCt>aTt p.T71I PIGU_ENST00000452740.2_Missense_Mutation_p.T91I Q9H490 PIGU_HUMAN phosphatidylinositol glycan anchor biosynthesis, class U 91 attachment of GPI anchor to protein|C-terminal protein lipidation|regulation of JAK-STAT cascade GPI-anchor transamidase complex|plasma membrane NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1) 9 GGCAATAGCAGTGAGTGCATC 0.413000 19 105 0 0 0.00121646 0 0 SYT16 83851 broad.mit.edu 37 14 62542093 62542093 + Missense_Mutation SNP C C T TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr14:62542093C>T ENST00000430451.2 + 3 1174 c.977C>T c.(976-978)tCc>tTc p.S326F RP11-355I22.5_ENST00000553990.1_lincRNA|SYT16_ENST00000446982.2_Missense_Mutation_p.S326F NM_031914.2 NP_114120.2 Q17RD7 SYT16_HUMAN synaptotagmin XVI 326 central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 35 OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118) GACAGCTCCTCCATGTGGAGT 0.473000 15 80 0 0 0.000422831 0 0 CCR2 729230 broad.mit.edu 37 3 46399716 46399716 + Missense_Mutation SNP G G A TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr3:46399716G>A ENST00000292301.4 + 2 1183 c.698G>A c.(697-699)cGa>cAa p.R233Q CCR2_ENST00000445132.2_Missense_Mutation_p.R233Q|CCR2_ENST00000400888.2_Missense_Mutation_p.R233Q|CCR2_ENST00000465202.1_3'UTR NM_001123041.2 NP_001116513.2 P41597 CCR2_HUMAN chemokine (C-C motif) receptor 2 233 astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|JAK-STAT cascade|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production|T-helper 17 cell chemotaxis cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7) 14 BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206) CTTCGGTGTCGAAACGAGAAG 0.458000 36 277 0 0 0.00170553 0 0 PRR12 57479 broad.mit.edu 37 19 50097782 50097782 + Missense_Mutation SNP C C T TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr19:50097782C>T ENST00000418929.2 + 3 283 c.271C>T c.(271-273)Ctt>Ttt p.L91F NM_020719.1 NP_065770.1 Q9ULL5 PRR12_HUMAN proline rich 12 492 Pro-rich. DNA binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2) 11 all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132) CGTCATGAACCTTATCTCGGC 0.667000 13 57 0 0 0.000308642 0 0 LRP1 4035 broad.mit.edu 37 12 57588387 57588387 + Missense_Mutation SNP A A C TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr12:57588387A>C ENST00000243077.3 + 50 8562 c.8096A>C c.(8095-8097)aAt>aCt p.N2699T NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 2699 LDL-receptor class A 15. aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) TGCCCTCTGAATTACTTCGCC 0.642000 13 34 0 0 0.000308642 0 0 OR4M2 390538 broad.mit.edu 37 15 22369163 22369163 + Silent SNP G G A TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr15:22369163G>A ENST00000332663.2 + 1 686 c.588G>A c.(586-588)gaG>gaA p.E196E RP11-69H14.6_ENST00000558896.1_RNA NM_001004719.2 NP_001004719.2 Q8NGB6 OR4M2_HUMAN olfactory receptor, family 4, subfamily M, member 2 196 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 63 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) TCCCAGAGGAGTTAGTGATGA 0.463000 69 308 0 0 0.000781405 0 0 ATP7B 540 broad.mit.edu 37 13 52548094 52548094 + Missense_Mutation SNP C C T TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr13:52548094C>T ENST00000242839.4 - 2 1418 c.1262G>A c.(1261-1263)gGa>gAa p.G421E ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000400366.3_Missense_Mutation_p.G310E|ATP7B_ENST00000400370.3_Missense_Mutation_p.G421E|ATP7B_ENST00000344297.5_Missense_Mutation_p.G421E|ATP7B_ENST00000418097.2_Missense_Mutation_p.G421E|ATP7B_ENST00000448424.2_Missense_Mutation_p.G421E|ATP7B_ENST00000542656.1_Missense_Mutation_p.G389E NM_000053.3 NP_000044.2 P35670 ATP7B_HUMAN ATPase, Cu++ transporting, beta polypeptide 421 HMA 4. ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion Golgi membrane|integral to plasma membrane|late endosome|mitochondrion ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2) 55 Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;5.25e-08) AGCCTCAAATCCCATGTCTTC 0.453000 Wilson disease 39 33 0 0 0.000509022 0 0 ZNF285 26974 broad.mit.edu 37 19 44892134 44892134 + Silent SNP G G A TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr19:44892134G>A ENST00000330997.4 - 4 337 c.273C>T c.(271-273)atC>atT p.I91I CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000591679.1_Silent_p.I98I|ZNF285_ENST00000544719.2_Silent_p.I91I NM_152354.3 NP_689567.3 zinc finger protein 285 breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 44 GAAGGTTCACGATATAATCCT 0.418000 17 73 0 0 0.000958276 0 0 COG4 25839 broad.mit.edu 37 16 70553588 70553588 + Missense_Mutation SNP G G A TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr16:70553588G>A ENST00000323786.5 - 2 239 c.218C>T c.(217-219)aCc>aTc p.T73I COG4_ENST00000564653.1_Missense_Mutation_p.T73I|COG4_ENST00000393612.4_Missense_Mutation_p.T69I NM_001195139.1|NM_015386.2 NP_001182068.1|NP_056201.2 Q9H9E3 COG4_HUMAN component of oligomeric golgi complex 4 69 Interacts with SCFD1. Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane|Golgi transport complex protein binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2) 33 Ovarian(137;0.0694) ACTTTCAATGGTGTTTTGCTG 0.453000 19 28 0 0 0.000958276 0 0 INHBA 3624 broad.mit.edu 37 7 41730045 41730045 + Missense_Mutation SNP G G A TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr7:41730045G>A ENST00000242208.4 - 3 730 c.484C>T c.(484-486)Ccc>Tcc p.P162S INHBA_ENST00000464515.1_5'UTR|AC005027.3_ENST00000416150.1_RNA|INHBA_ENST00000442711.1_Missense_Mutation_p.P162S NM_002192.2 NP_002183.1 P08476 INHBA_HUMAN inhibin, beta A 162 cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway activin A complex|inhibin A complex cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 TTGGCCTTGGGGACTTTTAGG 0.577000 TSP Lung(11;0.080) 13 51 0 0 0.000308642 0 0 BAGE2 85319 broad.mit.edu 37 21 11058339 11058339 + RNA SNP G G A TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr21:11058339G>A ENST00000470054.1 - 0 324 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) AGGGGTAAAGGAGAGAAATCT 0.368000 6 122 0 0 8.12818e-05 0 0 MIR381HG 378881 broad.mit.edu 37 14 101512845 101512845 + RNA SNP C C T TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr14:101512845C>T ENST00000553692.1 + 0 28 MIR487B_ENST00000385021.1_RNA CATGTCGAATCGTACAGGGTC 0.488000 7 29 0 0 0.000274275 0 0 COL4A6 1288 broad.mit.edu 37 X 107457458 107457458 + Splice_Site SNP C C T TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chrX:107457458C>T ENST00000394872.2 - 7 553 c.321_splice c.e7-1 p.G108_splice COL4A6_ENST00000545689.1_Splice_Site_p.G109_splice|COL4A6_ENST00000538570.1_Splice_Site_p.G109_splice|COL4A6_ENST00000372216.4_Splice_Site_p.G110_splice|COL4A6_ENST00000334504.7_Splice_Site_p.G109_splice Q14031 CO4A6_HUMAN collagen, type IV, alpha 6 110 Triple-helical region. cell adhesion|extracellular matrix organization collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 92 CCAGGGTGGCCCTGTTCAAAG 0.517000 Alport syndrome with Diffuse Leiomyomatosis 14 77 0 0 0.00074312 0 0 COL4A6 1288 broad.mit.edu 37 X 107464486 107464486 + Missense_Mutation SNP C C T TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chrX:107464486C>T ENST00000394872.2 - 4 494 c.263G>A c.(262-264)gGa>gAa p.G88E COL4A6_ENST00000545689.1_Missense_Mutation_p.G88E|COL4A6_ENST00000538570.1_Missense_Mutation_p.G88E|COL4A6_ENST00000372216.4_Missense_Mutation_p.G89E|COL4A6_ENST00000334504.7_Missense_Mutation_p.G88E Q14031 CO4A6_HUMAN collagen, type IV, alpha 6 89 Triple-helical region. cell adhesion|extracellular matrix organization collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 92 TCCTTTTGGTCCATAAGGTCC 0.468000 Alport syndrome with Diffuse Leiomyomatosis 22 106 0 0 0.000375601 0 0 PSG6 5675 broad.mit.edu 37 19 43411107 43411107 + Missense_Mutation SNP C C T TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr19:43411107C>T ENST00000187910.2 - 5 1272 c.1207G>A c.(1207-1209)Gaa>Aaa p.E403K PSG6_ENST00000292125.2_Missense_Mutation_p.E403K|PSG6_ENST00000402603.4_Missense_Mutation_p.E310K NM_001031850.3 NP_001027020.1 pregnancy specific beta-1-glycoprotein 6 central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 44 Prostate(69;0.00899) TTGGAGATTTCCTTGCCAGTG 0.448000 103 178 0 0 0.000781405 0 0 EDNRB 1910 broad.mit.edu 37 13 78477733 78477733 + Missense_Mutation SNP C C T TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr13:78477733C>T ENST00000377211.4 - 3 915 c.763G>A c.(763-765)Gag>Aag p.E255K EDNRB_ENST00000446573.1_Missense_Mutation_p.E165K|EDNRB_ENST00000334286.5_Missense_Mutation_p.E165K NM_001201397.1 NP_001188326.1 P24530 EDNRB_HUMAN endothelin receptor type B 165 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction integral to plasma membrane endothelin-B receptor activity|peptide hormone binding breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3) 42 Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037) GBM - Glioblastoma multiforme(99;0.0933) Bosentan(DB00559) GGCCAGTCCTCTGCCAGCAGC 0.463000 5 57 0 0 0.000602214 0 0 DGAT2L6 347516 broad.mit.edu 37 X 69397495 69397495 + Nonsense_Mutation SNP G G A TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chrX:69397495G>A ENST00000333026.3 + 1 163 c.63G>A c.(61-63)tgG>tgA p.W21* NM_198512.1 NP_940914.1 Q6ZPD8 DG2L6_HUMAN diacylglycerol O-acyltransferase 2-like 6 21 lipid biosynthetic process endoplasmic reticulum membrane|integral to membrane acyltransferase activity breast(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(1) 12 TTTTGCAATGGATCCCAGTCT 0.493000 11 47 0 0 0.000151284 0 0 TBX3 6926 broad.mit.edu 37 12 115109947 115109947 + Missense_Mutation SNP G G A TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr12:115109947G>A ENST00000349155.2 - 7 2834 c.1871C>T c.(1870-1872)tCc>tTc p.S624F TBX3_ENST00000257566.3_Missense_Mutation_p.S644F NM_005996.3 NP_005987.3 O15119 TBX3_HUMAN T-box 3 644 Transcription repression. SAAASSSVHRHPF -> LRQPQLRCTAPL (in Ref. 1). anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development nucleus sequence-specific DNA binding breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Medulloblastoma(191;0.163)|all_neural(191;0.178) BRCA - Breast invasive adenocarcinoma(302;0.0574) CACCGGGATGGAGTAGGGGCT 0.741000 3 3 0 0 6.4e-05 0 0 CUTA 51596 broad.mit.edu 37 6 33385045 33385045 + Silent SNP G G A TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr6:33385045G>A ENST00000374500.5 - 3 488 c.357C>T c.(355-357)atC>atT p.I119I CUTA_ENST00000607266.1_Silent_p.I77I|CUTA_ENST00000374496.3_Silent_p.I77I|CUTA_ENST00000488478.1_Silent_p.I100I|CUTA_ENST00000440279.3_Silent_p.I77I|CUTA_ENST00000494751.1_Silent_p.I77I|CUTA_ENST00000488034.1_Silent_p.I100I NM_001014433.2 NP_001014433.1 O60888 CUTA_HUMAN cutA divalent cation tolerance homolog (E. coli) 100 protein localization|response to metal ion membrane enzyme binding SLC22A1/CUTA(2) kidney(1)|lung(3)|urinary_tract(1) 5 TAATCTGAGGGATGAGGTTGA 0.532000 5 54 0 0 0.00116845 0 0 SPP1 6696 broad.mit.edu 37 4 88902728 88902728 + Silent SNP C C T rs150169219 TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr4:88902728C>T ENST00000237623.7 + 5 424 c.276C>T c.(274-276)aaC>aaT p.N92N SPP1_ENST00000509659.1_3'UTR|SPP1_ENST00000395080.3_Silent_p.N106N|SPP1_ENST00000360804.4_Silent_p.N79N NM_000582.2 NP_000573.1 P10451 OSTP_HUMAN secreted phosphoprotein 1 106 biomineral tissue development|cell adhesion|decidualization|embryo implantation|ossification|response to vitamin D extracellular space cytokine activity NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(1) 13 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;9.87e-05) TTGACTCGAACGACTCTGATG 0.463000 25 181 0 0 0.000586117 0 0 APOBEC1 339 broad.mit.edu 37 12 7805412 7805412 + Missense_Mutation SNP C C T TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr12:7805412C>T ENST00000229304.4 - 3 84 c.64G>A c.(64-66)Gag>Aag p.E22K NM_001644.3 NP_001635.2 P41238 ABEC1_HUMAN apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1 22 cytidine to uridine editing|DNA demethylation|lipid metabolic process|mRNA modification|mRNA processing|negative regulation of methylation-dependent chromatin silencing nucleoplasm cytidine deaminase activity|RNA binding|zinc ion binding kidney(2)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1) 17 ACGTCAAACTCCCAGGGTTCG 0.478000 16 54 0 0 0.000958276 0 0 F8 2157 broad.mit.edu 37 X 154157824 154157824 + Missense_Mutation SNP G G A TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chrX:154157824G>A ENST00000360256.4 - 14 4441 c.4241C>T c.(4240-4242)tCa>tTa p.S1414L NM_000132.3 NP_000123.1 P00451 FA8_HUMAN coagulation factor VIII, procoagulant component 1414 B. acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2) 120 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) AGATGGAAATGATGATACCTT 0.423000 27 71 0 0 0.000720815 0 0 CFH 3075 broad.mit.edu 37 1 196714956 196714956 + Missense_Mutation SNP G G A TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr1:196714956G>A ENST00000367429.4 + 21 3560 c.3320G>A c.(3319-3321)gGa>gAa p.G1107E NM_000186.3 NP_000177.2 P08603 CFAH_HUMAN complement factor H 1107 Sushi 19. complement activation, alternative pathway extracellular space NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 101 GATTCTACAGGAAAATGTGGG 0.398000 62 58 0 0 0.000781405 0 0 TBC1D9 23158 broad.mit.edu 37 4 141543721 141543721 + Missense_Mutation SNP G G C TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr4:141543721G>C ENST00000442267.2 - 21 3503 c.3429C>G c.(3427-3429)aaC>aaG p.N1143K NM_015130.2 NP_055945.2 Q6ZT07 TBCD9_HUMAN TBC1 domain family, member 9 (with GRAM domain) 1143 intracellular calcium ion binding|Rab GTPase activator activity endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 31 all_hematologic(180;0.162) Medulloblastoma(177;0.00498) AGCAGGCCCCGTTGTCCCGGG 0.637000 14 77 0 0 0.000566183 0 0 IGFBP5 3488 broad.mit.edu 37 2 217543652 217543652 + Missense_Mutation SNP G G A TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr2:217543652G>A ENST00000233813.4 - 2 1237 c.488C>T c.(487-489)tCc>tTc p.S163F NM_000599.3 NP_000590.1 P24593 IBP5_HUMAN insulin-like growth factor binding protein 5 163 negative regulation of insulin-like growth factor receptor signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|negative regulation of translation|signal transduction insulin-like growth factor I binding endometrium(1)|large_intestine(3)|lung(1) 5 Renal(323;0.0822) Epithelial(149;2.1e-06)|all cancers(144;0.000165)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GACAAACTTGGACTGGGTCAG 0.587000 15 35 0 0 0.000566183 0 0 TTLL4 9654 broad.mit.edu 37 2 219618933 219618933 + Missense_Mutation SNP G G A TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr2:219618933G>A ENST00000392102.1 + 20 3761 c.3421G>A c.(3421-3423)Ggc>Agc p.G1141S TTLL4_ENST00000457313.1_Intron|TTLL4_ENST00000258398.4_Missense_Mutation_p.G1141S|TTLL4_ENST00000442769.1_Missense_Mutation_p.G1077S NM_014640.4 NP_055455.3 Q14679 TTLL4_HUMAN tubulin tyrosine ligase-like family, member 4 1141 protein polyglutamylation cilium|microtubule basal body ATP binding|tubulin binding|tubulin-tyrosine ligase activity endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2) 39 Renal(207;0.0915) Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101) GACTCAAGCTGGCCTTTCCCC 0.512000 36 63 0 0 0.000814825 0 0 BEST3 144453 broad.mit.edu 37 12 70087558 70087558 + Missense_Mutation SNP C C T TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr12:70087558C>T ENST00000330891.5 - 4 603 c.377G>A c.(376-378)aGg>aAg p.R126K BEST3_ENST00000266661.4_Missense_Mutation_p.R20K|BEST3_ENST00000551160.1_Missense_Mutation_p.R20K|BEST3_ENST00000331471.4_Missense_Mutation_p.R126K|BEST3_ENST00000393365.1_Missense_Mutation_p.R20K|BEST3_ENST00000553096.1_Missense_Mutation_p.R20K|BEST3_ENST00000533674.1_5'UTR|BEST3_ENST00000476098.1_5'UTR NM_032735.2 NP_116124.2 Q8N1M1 BEST3_HUMAN bestrophin 3 126 chloride channel complex|plasma membrane chloride channel activity cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2) 12 Breast(13;2.31e-06)|Esophageal squamous(21;0.187) Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694) CATCAGCGTCCTTCTAAGCAG 0.532000 12 30 0 0 0.000308642 0 0 CAGE1 285782 broad.mit.edu 37 6 7374052 7374052 + Missense_Mutation SNP C C T TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr6:7374052C>T ENST00000502583.1 - 5 1564 c.1000G>A c.(1000-1002)Gag>Aag p.E334K CAGE1_ENST00000338150.4_Missense_Mutation_p.E334K|CAGE1_ENST00000512086.1_Missense_Mutation_p.E334K|CAGE1_ENST00000379918.4_Missense_Mutation_p.E334K|CAGE1_ENST00000296742.7_Missense_Mutation_p.E198K NM_001170692.1 NP_001164163.1 Q8TC20 CAGE1_HUMAN cancer antigen 1 334 breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1) 19 Ovarian(93;0.0418) ACCCTCTTCTCTAAATACAGG 0.353000 15 29 0 0 0.000566183 0 0 MYH4 4622 broad.mit.edu 37 17 10366889 10366889 + Silent SNP C C T TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr17:10366889C>T ENST00000255381.2 - 8 830 c.720G>A c.(718-720)agG>agA p.R240R CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 240 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 AGTTGTCATTCCTCACGGTCT 0.438000 30 44 0 0 0.00058488 0 0 RBBP8 5932 broad.mit.edu 37 18 20573768 20573768 + Missense_Mutation SNP C C T TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr18:20573768C>T ENST00000399722.2 + 12 2248 c.1897C>T c.(1897-1899)Cca>Tca p.P633S RBBP8_ENST00000399725.2_Missense_Mutation_p.P633S|RBBP8_ENST00000327155.5_Missense_Mutation_p.P633S|RBBP8_ENST00000360790.5_Missense_Mutation_p.P633S NM_203291.1 NP_976036.1 Q99708 COM1_HUMAN retinoblastoma binding protein 8 633 cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter nucleus damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1) 24 all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19) OV - Ovarian serous cystadenocarcinoma(1;0.00196) TCAGTTAAATCCATGTAGAAC 0.358000 Homologous recombination 15 23 0 0 0.000422831 0 0 GPR22 2845 broad.mit.edu 37 7 107114812 107114812 + Missense_Mutation SNP C C T TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr7:107114812C>T ENST00000304402.4 + 3 1650 c.307C>T c.(307-309)Ctt>Ttt p.L103F COG5_ENST00000393603.2_Intron|COG5_ENST00000347053.3_Intron|COG5_ENST00000297135.3_Intron|COG5_ENST00000475638.2_Intron NM_005295.2 NP_005286.2 Q99680 GPR22_HUMAN G protein-coupled receptor 22 103 integral to plasma membrane G-protein coupled receptor activity large_intestine(3)|lung(6)|ovary(2)|stomach(1) 12 TATAGTTATCCTTCTGCTTTC 0.358000 34 104 0 0 0.000409698 0 0 IL13RA2 3598 broad.mit.edu 37 X 114239865 114239865 + Silent SNP C C T TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chrX:114239865C>T ENST00000371936.1 - 10 1260 c.1011G>A c.(1009-1011)tcG>tcA p.S337S IL13RA2_ENST00000243213.1_Silent_p.S337S Q14627 I13R2_HUMAN interleukin 13 receptor, alpha 2 337 extracellular space|integral to membrane|soluble fraction cytokine receptor activity p.S337S(2) NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 23 AAGTTTTCTTCGATAGGTCTT 0.353000 12 49 0 0 0.000151284 0 0 CD99L2 83692 broad.mit.edu 37 X 149938784 149938784 + Silent SNP T T C TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chrX:149938784T>C ENST00000370377.3 - 10 831 c.714A>G c.(712-714)gaA>gaG p.E238E CD99L2_ENST00000355149.3_Silent_p.E166E|CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000466436.1_Silent_p.E189E|CD99L2_ENST00000437787.2_Silent_p.E165E NM_001242614.1|NM_031462.3 NP_001229543.1|NP_113650.2 Q8TCZ2 C99L2_HUMAN CD99 molecule-like 2 238 cell adhesion cell junction|integral to membrane endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) CACCTTGGGGTTCCTCACATA 0.537000 8 40 0 0 0.000673444 0 0 OR10AG1 282770 broad.mit.edu 37 11 55735475 55735475 + Silent SNP G G A TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr11:55735475G>A ENST00000312345.2 - 1 515 c.465C>T c.(463-465)ttC>ttT p.F155F NM_001005491.1 NP_001005491.1 Q8NH19 O10AG_HUMAN olfactory receptor, family 10, subfamily AG, member 1 155 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 40 Esophageal squamous(21;0.0137) AGGGCAAAAGGAAAATTTGGC 0.388000 22 17 0 0 0.000295444 0 0 BAZ2B 29994 broad.mit.edu 37 2 160287382 160287382 + Missense_Mutation SNP G G A TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr2:160287382G>A ENST00000392783.2 - 10 2681 c.2186C>T c.(2185-2187)cCa>cTa p.P729L BAZ2B_ENST00000392782.1_Missense_Mutation_p.P727L|BAZ2B_ENST00000355831.2_Missense_Mutation_p.P729L|BAZ2B_ENST00000343439.5_Intron NM_013450.2 NP_038478.2 Q9UIF8 BAZ2B_HUMAN bromodomain adjacent to zinc finger domain, 2B 729 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1) 82 ACCAGAGTGTGGGCTTGAAGT 0.408000 10 58 0 0 0.000442599 0 0 PEG3 5178 broad.mit.edu 37 19 57326708 57326708 + Silent SNP C C T TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr19:57326708C>T ENST00000326441.9 - 10 3465 c.3102G>A c.(3100-3102)aaG>aaA p.K1034K PEG3_ENST00000423103.2_Silent_p.K1034K|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000598410.1_Silent_p.K910K|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000593695.1_Silent_p.K908K NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 1034 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) GTCTGAAGTCCTTACATTTGT 0.463000 15 47 0 0 0.000219431 0 0 PRRG1 5638 broad.mit.edu 37 X 37312691 37312691 + Silent SNP C C T TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chrX:37312691C>T ENST00000542554.1 + 5 746 c.474C>T c.(472-474)tcC>tcT p.S158S TM4SF2_ENST00000465127.1_Intron|PRRG1_ENST00000449135.2_Silent_p.S158S|PRRG1_ENST00000378628.4_Silent_p.S158S|PRRG1_ENST00000543642.1_Silent_p.S158S|PRRG1_ENST00000491253.1_3'UTR NM_001173489.1 NP_001166960.1 O14668 TMG1_HUMAN proline rich Gla (G-carboxyglutamic acid) 1 158 extracellular region|integral to plasma membrane calcium ion binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 15 GCTCAGATTCCGTCTCTACTC 0.517000 10 56 0 0 0.000978159 0 0 FREM1 158326 broad.mit.edu 37 9 14819293 14819293 + Missense_Mutation SNP C C T TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr9:14819293C>T ENST00000380881.4 - 15 3303 c.2488G>A c.(2488-2490)Gga>Aga p.G830R FREM1_ENST00000422223.2_Missense_Mutation_p.G829R|FREM1_ENST00000380880.3_Missense_Mutation_p.G829R Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 829 cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 GBM - Glioblastoma multiforme(50;3.53e-06) AGAGGAAATCCATTCAGCTCC 0.433000 15 16 0 0 0.000422831 0 0 GPR1 2825 broad.mit.edu 37 2 207041026 207041026 + Missense_Mutation SNP G G A rs142744381 TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr2:207041026G>A ENST00000407325.2 - 3 1308 c.946C>T c.(946-948)Cgg>Tgg p.R316W GPR1_ENST00000437420.1_Missense_Mutation_p.R316W NM_001098199.1|NM_001261452.1|NM_001261453.1|NM_001261454.1|NM_001261455.1|NM_005279.3 NP_001091669.1|NP_001248381.1|NP_001248382.1|NP_001248383.1|NP_001248384.1|NP_005270.2 P46091 GPR1_HUMAN G protein-coupled receptor 1 316 integral to plasma membrane G-protein coupled receptor activity breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1) 18 Lung NSC(271;7.93e-06)|Renal(323;0.000147)|Hepatocellular(293;0.000888) UCEC - Uterine corpus endometrioid carcinoma (47;0.000241)|Epithelial(149;1.91e-37)|STAD - Stomach adenocarcinoma(1183;0.00178)|Lung(261;0.111)|LUSC - Lung squamous cell carcinoma(261;0.184) ACTGAGGACCGGAAGCGAGCT 0.488000 12 47 0 0 0.00136819 0 0 COQ4 51117 broad.mit.edu 37 9 131088142 131088142 + Silent SNP C C T rs111535641 TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr9:131088142C>T ENST00000300452.3 + 4 707 c.384C>T c.(382-384)ctC>ctT p.L128L COQ4_ENST00000372875.3_Silent_p.L128L NM_016035.3 NP_057119.2 Q9Y3A0 COQ4_HUMAN coenzyme Q4 128 ubiquinone biosynthetic process mitochondrial inner membrane endometrium(4)|large_intestine(1)|lung(4) 9 GCGAGTATCTCCGTTTCCTGG 0.572000 4 33 0 0 0.000602214 0 0 ANKFY1 51479 broad.mit.edu 37 17 4087198 4087198 + Silent SNP A A C TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr17:4087198A>C ENST00000341657.4 - 13 1742 c.1707T>G c.(1705-1707)gcT>gcG p.A569A ANKFY1_ENST00000570535.1_Silent_p.A611A|CYB5D2_ENST00000573984.1_Intron|ANKFY1_ENST00000574367.1_Silent_p.A569A NM_016376.3 NP_057460.3 Q9P2R3 ANFY1_HUMAN ankyrin repeat and FYVE domain containing 1 569 endosome membrane metal ion binding|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 TGGCATGAAGAGCATTGGCTA 0.453000 7 77 0 0 0.000274275 0 0 DEFB125 245938 broad.mit.edu 37 20 76875 76875 + Silent SNP G G A TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr20:76875G>A ENST00000382410.2 + 2 288 c.288G>A c.(286-288)ttG>ttA p.L96L NM_153325.2 NP_697020.2 Q8N687 DB125_HUMAN defensin, beta 125 96 defense response to bacterium extracellular region central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2) 12 all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231) OV - Ovarian serous cystadenocarcinoma(29;0.156) TATCTATGTTGAATGATCTGA 0.408000 15 110 0 0 0.000219431 0 0 SLC39A10 57181 broad.mit.edu 37 2 196545497 196545497 + Missense_Mutation SNP C C T TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr2:196545497C>T ENST00000409086.3 + 2 1006 c.731C>T c.(730-732)tCt>tTt p.S244F SLC39A10_ENST00000359634.5_Missense_Mutation_p.S244F|SLC39A10_ENST00000541054.1_Intron NM_001127257.1 NP_001120729.1 Q9ULF5 S39AA_HUMAN solute carrier family 39 (zinc transporter), member 10 244 zinc ion transport integral to membrane metal ion transmembrane transporter activity breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2) 34 OV - Ovarian serous cystadenocarcinoma(117;0.221) AATGAAAATTCTGAGGTTATT 0.408000 7 28 0 0 0.000157383 0 0 CAD 790 broad.mit.edu 37 2 27465600 27465600 + Missense_Mutation SNP C C T TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr2:27465600C>T ENST00000264705.4 + 41 6497 c.6335C>T c.(6334-6336)cCa>cTa p.P2112L CAD_ENST00000403525.1_Missense_Mutation_p.P2049L NM_004341.3 NP_004332.2 P27708 PYR1_HUMAN carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase 2112 ATCase (Aspartate transcarbamylase). 'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process cytosol|neuronal cell body|nuclear matrix|terminal button aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 92 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) L-Aspartic Acid(DB00128)|L-Glutamine(DB00130) CTGCGCATGCCACCCACTGTG 0.652000 13 25 0 0 0.000308642 0 0 SERINC3 10955 broad.mit.edu 37 20 43141631 43141631 + Missense_Mutation SNP G G A TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr20:43141631G>A ENST00000342374.4 - 3 363 c.206C>T c.(205-207)cCt>cTt p.P69L SERINC3_ENST00000255175.1_Missense_Mutation_p.P69L|SERINC3_ENST00000541235.1_Missense_Mutation_p.P14L NM_006811.2 NP_006802.1 Q13530 SERC3_HUMAN serine incorporator 3 69 integral to membrane|plasma membrane protein binding endometrium(4)|large_intestine(2)|lung(8)|skin(3)|urinary_tract(1) 18 Myeloproliferative disorder(115;0.0122) Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189) ACAAAATCCAGGAATCTGGAA 0.373000 6 52 0 0 0.00116845 0 0 DMXL2 23312 broad.mit.edu 37 15 51792048 51792048 + Missense_Mutation SNP G G A TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr15:51792048G>A ENST00000251076.5 - 18 3660 c.3373C>T c.(3373-3375)Ctt>Ttt p.L1125F DMXL2_ENST00000543779.2_Missense_Mutation_p.L1125F|DMXL2_ENST00000449909.3_Intron NM_001174116.1|NM_015263.3 NP_001167587.1|NP_056078.2 Q8TDJ6 DMXL2_HUMAN Dmx-like 2 1125 cell junction|synaptic vesicle membrane Rab GTPase binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 101 all cancers(107;0.00494) AAATCATCAAGATGAATTGTT 0.378000 8 32 0 0 0.000274275 0 0 AQP6 363 broad.mit.edu 37 12 50367207 50367207 + Missense_Mutation SNP C C T TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr12:50367207C>T ENST00000315520.5 + 1 588 c.251C>T c.(250-252)gCc>gTc p.A84V AQP6_ENST00000551733.1_Intron NM_001652.3 NP_001643.2 Q13520 AQP6_HUMAN aquaporin 6, kidney specific 84 excretion|odontogenesis integral to plasma membrane|transport vesicle membrane anion channel activity|water channel activity endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(2) 13 GCCAACCCCGCCGTGACGCTG 0.672000 14 32 0 0 0.00074312 0 0 PRSS3P2 154754 broad.mit.edu 37 7 142481317 142481317 + RNA SNP G G A TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr7:142481317G>A ENST00000603901.1 + 0 391 NR_001296.3 TCTGCCCACTGCCCCTCCAGC 0.547000 6 18 0 0 0.000157383 0 0 CTNNA2 1496 broad.mit.edu 37 2 80101318 80101318 + Silent SNP C C T TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr2:80101318C>T ENST00000466387.1 + 10 1426 c.702C>T c.(700-702)gcC>gcT p.A234A CTNNA2_ENST00000402739.4_Silent_p.A234A|CTNNA2_ENST00000540488.1_Silent_p.A234A|CTNNA2_ENST00000361291.4_Silent_p.A268A|CTNNA2_ENST00000541047.1_Silent_p.A234A|CTNNA2_ENST00000496558.1_Silent_p.A234A P26232 CTNA2_HUMAN catenin (cadherin-associated protein), alpha 2 234 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 CAGATGTCGCCGCTACGAGAG 0.577000 8 22 0 0 0.000978159 0 0 L3MBTL2 83746 broad.mit.edu 37 22 41626181 41626181 + Missense_Mutation SNP G G A TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr22:41626181G>A ENST00000216237.5 + 17 2202 c.2044G>A c.(2044-2046)Gcc>Acc p.A682T CHADL_ENST00000216241.9_Intron NM_031488.4 NP_113676.2 Q969R5 LMBL2_HUMAN l(3)mbt-like 2 (Drosophila) 682 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus methylated histone residue binding|transcription corepressor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 TCTAGACGTGGCCTCGCCCGA 0.602000 15 50 0 0 0.00152264 0 0 SNHG14 104472715 broad.mit.edu 37 15 25463554 25463554 + RNA SNP G G A TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr15:25463554G>A ENST00000424208.1 + 0 2869 SNHG14_ENST00000453082.2_RNA NR_003305.1 TCCACATGGAGGGTGGTCACA 0.552000 3 4 0 0 6.4e-05 0 0 PTPRK 5796 broad.mit.edu 37 6 128505667 128505667 + Missense_Mutation SNP C C T TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr6:128505667C>T ENST00000368227.3 - 7 1438 c.1072G>A c.(1072-1074)Gaa>Aaa p.E358K PTPRK_ENST00000368207.3_Missense_Mutation_p.E358K|PTPRK_ENST00000368226.4_Missense_Mutation_p.E358K|PTPRK_ENST00000368210.3_Missense_Mutation_p.E358K|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368213.5_Missense_Mutation_p.E358K|PTPRK_ENST00000532331.1_Missense_Mutation_p.E358K|PTPRK_ENST00000368215.3_Missense_Mutation_p.E358K Q15262 PTPRK_HUMAN protein tyrosine phosphatase, receptor type, K 358 Fibronectin type-III 1. cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity PTPRK/RSPO3(10) autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 72 all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24) ATCTCATATTCGGTATCTGGA 0.458000 12 71 0 0 0.000151284 0 0 ZNFX1 57169 broad.mit.edu 37 20 47870325 47870325 + Silent SNP G G A TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr20:47870325G>A ENST00000396105.1 - 11 3229 c.2983C>T c.(2983-2985)Cta>Tta p.L995L ZNFX1_ENST00000371752.1_Silent_p.L995L|ZNFX1_ENST00000371754.4_Silent_p.L995L NM_021035.2 NP_066363.1 Q9P2E3 ZNFX1_HUMAN zinc finger, NFX1-type containing 1 995 metal ion binding cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1) 60 BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) ACCTTCTGTAGGATCTGGCGG 0.552000 99 134 0 0 0.000781405 0 0 ERCC5 2073 broad.mit.edu 37 13 103520502 103520502 + Missense_Mutation SNP T T C rs121434575 TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr13:103520502T>C ENST00000355739.4 + 12 3996 c.2573T>C c.(2572-2574)cTt>cCt p.L858P ERCC5_ENST00000375954.1_Missense_Mutation_p.L91P|BIVM-ERCC5_ENST00000602836.1_Silent_p.A1283A NM_000123.3 NP_000114.2 excision repair cross-complementing rodent repair deficiency, complementation group 5 breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 51 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211) GCTTATTTGCTTGGAAGTGAT 0.343000 """Mis, N, F""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 10 100 0 0 0.000673444 0 0 SLC4A4 8671 broad.mit.edu 37 4 72316976 72316976 + Missense_Mutation SNP G G A TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr4:72316976G>A ENST00000340595.3 + 8 1344 c.1148G>A c.(1147-1149)gGa>gAa p.G383E SLC4A4_ENST00000351898.6_Missense_Mutation_p.G427E|SLC4A4_ENST00000512686.1_Missense_Mutation_p.G383E|SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000425175.1_Missense_Mutation_p.G427E|SLC4A4_ENST00000264485.5_Missense_Mutation_p.G427E NM_003759.3 NP_003750.1 Q9Y6R1 S4A4_HUMAN solute carrier family 4 (sodium bicarbonate cotransporter), member 4 427 basolateral plasma membrane|integral to plasma membrane inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225) GGTCACGGAGGAGGAGGACAT 0.458000 10 86 0 0 0.00136819 0 0 ZNF99 7652 broad.mit.edu 37 19 22940885 22940885 + Missense_Mutation SNP C C T rs78202728 TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr19:22940885C>T ENST00000397104.3 - 5 1552 c.1553G>A c.(1552-1554)aGa>aAa p.R518K ZNF99_ENST00000596209.1_Missense_Mutation_p.R609K zinc finger protein 99 p.R518T(1) NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 124 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) CTGATGTTTTCTAAGGGCTGA 0.373000 7 32 0 0 0.000673444 0 0 EBF2 64641 broad.mit.edu 37 8 25715842 25715842 + Silent SNP A A G TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr8:25715842A>G ENST00000520164.1 - 14 2058 c.1521T>C c.(1519-1521)ccT>ccC p.P507P EBF2_ENST00000535548.1_Silent_p.P238P|EBF2_ENST00000408929.3_Silent_p.P359P NM_022659.3 NP_073150.2 Q9HAK2 COE2_HUMAN early B-cell factor 2 507 Pro/Ser/Thr-rich. multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|metal ion binding endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 39 all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845) UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738) TACTTCCATAAGGAGAGCCGG 0.473000 14 57 0 0 0.000566183 0 0 TPRX1 284355 broad.mit.edu 37 19 48305309 48305309 + Missense_Mutation SNP G G A TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr19:48305309G>A ENST00000535759.1 - 4 1249 c.1250C>T c.(1249-1251)cCa>cTa p.P417L TPRX1_ENST00000322175.3_Missense_Mutation_p.P320L|TPRX1_ENST00000543508.1_Missense_Mutation_p.P310L Q8N7U7 TPRX1_HUMAN tetra-peptide repeat homeobox 1 320 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|skin(1) 18 all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133) OV - Ovarian serous cystadenocarcinoma(262;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048) gcctgggattggagctgggac 0.622000 5 8 0 0 0.000602214 0 0 SH3PXD2B 285590 broad.mit.edu 37 5 171766534 171766534 + Silent SNP C C T TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr5:171766534C>T ENST00000311601.5 - 13 1745 c.1575G>A c.(1573-1575)cgG>cgA p.R525R SH3PXD2B_ENST00000519643.1_Intron NM_001017995.2 NP_001017995.1 A1X283 SPD2B_HUMAN SH3 and PX domains 2B 525 adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly cell junction|cell projection|cytoplasm|podosome phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 36 Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175) Medulloblastoma(196;0.0207)|all_neural(177;0.0625) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) TGGATTCTTTCCGCGGAGGGA 0.647000 6 37 0 0 0.00116845 0 0 MYLK 4638 broad.mit.edu 37 3 123419455 123419455 + Missense_Mutation SNP G G A TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr3:123419455G>A ENST00000360772.3 - 19 3238 c.2860C>T c.(2860-2862)Cgc>Tgc p.R954C MYLK_ENST00000475616.1_Missense_Mutation_p.R954C|MYLK_ENST00000360304.3_Missense_Mutation_p.R954C|MYLK_ENST00000346322.5_Missense_Mutation_p.R885C|MYLK_ENST00000359169.1_Missense_Mutation_p.R954C Q15746 MYLK_HUMAN myosin light chain kinase 954 5 X 28 AA approximate tandem repeats.|Actin-binding (calcium/calmodulin- sensitive) (By similarity).|Calmodulin-binding (By similarity). aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) AGGACAGAGCGAAAATCGACC 0.597000 18 34 0 0 0.00074312 0 0 PCDH10 57575 broad.mit.edu 37 4 134071330 134071330 + Missense_Mutation SNP T T G TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr4:134071330T>G ENST00000264360.4 + 1 861 c.35T>G c.(34-36)aTg>aGg p.M12R NM_032961.1 NP_116586.1 Q9P2E7 PCD10_HUMAN protocadherin 10 12 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 136 LUSC - Lung squamous cell carcinoma(193;0.227) TTGCTCTGGATGGTGGAAGGA 0.517000 15 128 0 0 0.000422831 0 0 ARHGAP26 23092 broad.mit.edu 37 5 142254733 142254733 + Silent SNP G G A TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr5:142254733G>A ENST00000378004.3 + 3 664 c.309G>A c.(307-309)cgG>cgA p.R103R ARHGAP26_ENST00000274498.4_Silent_p.R103R NM_001135608.1 NP_001129080.1 Q9UNA1 RHG26_HUMAN Rho GTPase activating protein 26 103 actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction cytoskeleton|cytosol|focal adhesion cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1) 25 all_hematologic(541;0.0416) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) AACGGATACGGATGGTGAGTA 0.483000 14 60 0 0 0.000422831 0 0 NLRC5 84166 broad.mit.edu 37 16 57059751 57059751 + Missense_Mutation SNP C C T TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr16:57059751C>T ENST00000436936.1 + 6 1121 c.896C>T c.(895-897)gCt>gTt p.A299V NLRC5_ENST00000539144.1_Missense_Mutation_p.A299V|NLRC5_ENST00000262510.6_Missense_Mutation_p.A299V|NLRC5_ENST00000308149.7_Missense_Mutation_p.A299V Q86WI3 NLRC5_HUMAN NLR family, CARD domain containing 5 299 NACHT. defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity cytosol|nucleus ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 75 all_neural(199;0.225) GAGAAGAACGCTGACCAAGTC 0.557000 28 78 0 0 0.000878237 0 0 AP1G1 164 broad.mit.edu 37 16 71783811 71783811 + Nonsense_Mutation SNP C C A TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr16:71783811C>A ENST00000299980.4 - 15 1924 c.1483G>T c.(1483-1485)Gaa>Taa p.E495* AP1G1_ENST00000393512.3_Nonsense_Mutation_p.E498*|AP1G1_ENST00000423132.2_Nonsense_Mutation_p.E498*|AP1G1_ENST00000433195.2_Nonsense_Mutation_p.E518*|AP1G1_ENST00000569748.1_Nonsense_Mutation_p.E495* NM_001128.5 NP_001119.3 O43747 AP1G1_HUMAN adaptor-related protein complex 1, gamma 1 subunit 495 endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome kinesin binding|protein transporter activity breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1) 28 Ovarian(137;0.125) ATAGGCTCTTCCTCTTCACAC 0.428000 65 210 7.33394e-39 5.42028e-38 0.000781405 1 0 SLC47A2 146802 broad.mit.edu 37 17 19611707 19611707 + Silent SNP G G A TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr17:19611707G>A ENST00000350657.5 - 7 711 c.537C>T c.(535-537)atC>atT p.I179I SLC47A2_ENST00000325411.5_Silent_p.I215I|SLC47A2_ENST00000463318.1_5'UTR NM_001099646.1|NM_001256663.1 NP_001093116.1|NP_001243592.1 Q86VL8 S47A2_HUMAN solute carrier family 47 (multidrug and toxin extrusion), member 2 215 integral to membrane|plasma membrane drug:hydrogen antiporter activity endometrium(2)|kidney(3)|large_intestine(2)|lung(1)|ovary(1) 9 all_cancers(12;2.3e-05)|all_epithelial(12;0.0024)|Breast(13;0.245) GGGGCCAGGTGATCTTCTGAA 0.562000 25 58 0 0 0.000586117 0 0 KRT15 3866 broad.mit.edu 37 17 39674668 39674668 + Missense_Mutation SNP G G A TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr17:39674668G>A ENST00000254043.3 - 1 3997 c.412C>T c.(412-414)Cat>Tat p.H138Y KRT15_ENST00000393976.2_Missense_Mutation_p.H138Y|KRT15_ENST00000393981.3_5'UTR|KRT15_ENST00000393974.3_5'UTR NM_002275.3 NP_002266.2 P19012 K1C15_HUMAN keratin 15 138 Coil 1A.|Rod. epidermis development intermediate filament protein binding|structural constituent of cytoskeleton NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 Breast(137;0.000286) TACCAGTCATGGATCTTCACC 0.542000 12 116 0 0 0.000151284 0 0 ARHGEF40 55701 broad.mit.edu 37 14 21548918 21548918 + Missense_Mutation SNP C C T TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr14:21548918C>T ENST00000298694.4 + 12 2600 c.2473C>T c.(2473-2475)Cgt>Tgt p.R825C ARHGEF40_ENST00000298693.3_Missense_Mutation_p.R825C Q8TER5 ARH40_HUMAN Rho guanine nucleotide exchange factor (GEF) 40 825 regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2) 9 GCTGCGATTCCGTGCTTTCAG 0.637000 12 30 0 0 0.000308642 0 0 PTPRK 5796 broad.mit.edu 37 6 128403707 128403707 + Nonsense_Mutation SNP C C T TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr6:128403707C>T ENST00000368227.3 - 10 2018 c.1652G>A c.(1651-1653)tGg>tAg p.W551* PTPRK_ENST00000368207.3_Nonsense_Mutation_p.W551*|PTPRK_ENST00000368226.4_Nonsense_Mutation_p.W551*|PTPRK_ENST00000368210.3_Nonsense_Mutation_p.W551*|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368213.5_Nonsense_Mutation_p.W551*|RP11-103C16.2_ENST00000417390.1_RNA|PTPRK_ENST00000532331.1_Nonsense_Mutation_p.W551*|PTPRK_ENST00000368215.3_Nonsense_Mutation_p.W551* Q15262 PTPRK_HUMAN protein tyrosine phosphatase, receptor type, K 551 Fibronectin type-III 3. cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity PTPRK/RSPO3(10) autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 72 all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24) TGTACTGTTCCATAAATTTGA 0.438000 10 37 0 0 0.00136819 0 0 RNF2 6045 broad.mit.edu 37 1 185062287 185062287 + Missense_Mutation SNP C C T TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr1:185062287C>T ENST00000367510.3 + 4 631 c.343C>T c.(343-345)Cca>Tca p.P115S RNF2_ENST00000367509.4_Intron NM_007212.3 NP_009143.1 Q99496 RING2_HUMAN ring finger protein 2 115 Interaction with HIP2. histone H2A monoubiquitination|transcription, DNA-dependent MLL1 complex|PcG protein complex|ubiquitin ligase complex RING-like zinc finger domain binding|zinc ion binding breast(3)|endometrium(2)|large_intestine(4)|lung(3)|skin(2) 14 Breast(1374;0.000496) Colorectal(1306;6.9e-08)|KIRC - Kidney renal clear cell carcinoma(1967;8.12e-06) CAAAATTTATCCAAGTCGTGA 0.408000 35 18 0 0 0.000491102 0 0 SLC5A1 6523 broad.mit.edu 37 22 32479091 32479091 + Missense_Mutation SNP C C T TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr22:32479091C>T ENST00000266088.4 + 7 864 c.614C>T c.(613-615)aCc>aTc p.T205I SLC5A1_ENST00000543737.1_Missense_Mutation_p.T78I NM_000343.3 NP_000334.1 P13866 SC5A1_HUMAN solute carrier family 5 (sodium/glucose cotransporter), member 1 205 carbohydrate metabolic process integral to plasma membrane glucose:sodium symporter activity|protein binding p.T205I(1) NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1) 37 TACACGGACACCTTGCAGACG 0.587000 7 43 0 0 0.000274275 0 0 KIAA2026 158358 broad.mit.edu 37 9 5969206 5969206 + Missense_Mutation SNP G G A TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr9:5969206G>A ENST00000399933.3 - 3 1024 c.1025C>T c.(1024-1026)tCg>tTg p.S342L KIAA2026_ENST00000381461.2_Missense_Mutation_p.S342L NM_001017969.2 NP_001017969.2 Q5HYC2 K2026_HUMAN KIAA2026 342 breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1) 46 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124) CATTATTTTCGATAGAAAAGC 0.418000 13 19 0 0 0.000151284 0 0 C2orf71 388939 broad.mit.edu 37 2 29294548 29294548 + Silent SNP C C T TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr2:29294548C>T ENST00000331664.5 - 1 2579 c.2580G>A c.(2578-2580)aaG>aaA p.K860K NM_001029883.2 NP_001025054.1 A6NGG8 CB071_HUMAN chromosome 2 open reading frame 71 860 response to stimulus|visual perception photoreceptor outer segment NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1) 60 CCTGGGTTTCCTTGGGGGAGT 0.607000 23 37 0 0 0.00047179 0 0 COL5A3 50509 broad.mit.edu 37 19 10071188 10071188 + Nonsense_Mutation SNP G G A TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr19:10071188G>A ENST00000264828.3 - 67 5222 c.5137C>T c.(5137-5139)Cga>Tga p.R1713* NM_015719.3 NP_056534.2 P25940 CO5A3_HUMAN collagen, type V, alpha 3 1713 Fibrillar collagen NC1. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent p.R1713*(1) NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 116 Epithelial(33;7.11e-05) AATCCCGCTCGAGAAGAGCTG 0.567000 22 57 0 0 0.000295444 0 0 DCAF8L2 347442 broad.mit.edu 37 X 27766703 27766703 + Missense_Mutation SNP G G A TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chrX:27766703G>A ENST00000451261.2 + 5 2090 c.1691G>A c.(1690-1692)cGa>cAa p.R564Q NM_001136533.1 NP_001130005.1 DDB1 and CUL4 associated factor 8-like 2 central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3) 24 AAGTGGGAACGAGATGAAGAC 0.507000 8 14 0 0 0.000157383 0 0 IGHG4 3503 broad.mit.edu 37 14 106091486 106091486 + RNA SNP G G A TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr14:106091486G>A ENST00000390543.2 - 0 407 TGACCTCAGGGGTCCGGGAGA 0.582000 17 66 0 0 0.000422831 0 0 ATRN 8455 broad.mit.edu 37 20 3553591 3553591 + Silent SNP C C T TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr20:3553591C>T ENST00000262919.5 + 12 2153 c.2085C>T c.(2083-2085)tcC>tcT p.S695S ATRN_ENST00000446916.2_Silent_p.S695S NM_139321.2 NP_647537.1 O75882 ATRN_HUMAN attractin 695 inflammatory response extracellular space|integral to plasma membrane receptor activity|sugar binding breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 59 AATGTTTTTCCAAAAGAAGTA 0.353000 10 13 0 0 0.000442599 0 0 THSD7A 221981 broad.mit.edu 37 7 11633060 11633060 + Silent SNP G G C TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr7:11633060G>C ENST00000423059.3 - 3 1343 c.1092C>G c.(1090-1092)tcC>tcG p.S364S NM_015204.2 NP_056019.1 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A 364 TSP type-1 3. integral to membrane NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11) 113 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) CTGACCACTCGGAAACCTGGC 0.498000 HNSCC(18;0.044) 28 39 0 0 0.00106085 0 0 SLX4 84464 broad.mit.edu 37 16 3640721 3640721 + Missense_Mutation SNP G G A TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr16:3640721G>A ENST00000294008.3 - 12 3558 c.2918C>T c.(2917-2919)tCt>tTt p.S973F NM_032444.2 NP_115820.2 Q8IY92 SLX4_HUMAN SLX4 structure-specific endonuclease subunit 973 Interaction with PLK1 and TERF2-TERF2IP. DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair Slx1-Slx4 complex enzyme activator activity|protein binding breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 GTGCGGAAGAGAGCCTTCTTT 0.587000 Direct reversal of damage 18 61 0 0 0.000229342 0 0 HOXC6 3223 broad.mit.edu 37 12 54422676 54422676 + Missense_Mutation SNP C C G TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr12:54422676C>G ENST00000394331.3 + 2 1835 c.125C>G c.(124-126)cCc>cGc p.P42R HOXC6_ENST00000243108.4_Missense_Mutation_p.P124R|HOXC4_ENST00000303406.4_Intron|HOXC5_ENST00000512206.1_Intron NM_153693.3 NP_710160.1 P09630 HXC6_HUMAN homeobox C6 124 regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 CAGATTTACCCCTGGATGCAG 0.468000 4 96 0 0 0.00024832 0 0 EID1 23741 broad.mit.edu 37 15 49170837 49170837 + Missense_Mutation SNP C C A TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr15:49170837C>A ENST00000530028.2 + 1 755 c.464C>A c.(463-465)cCg>cAg p.P155Q EID1_ENST00000558295.1_Intron|SHC4_ENST00000332408.4_Intron|EID1_ENST00000560490.1_Missense_Mutation_p.P133Q NM_014335.2 NP_055150.1 Q9Y6B2 EID1_HUMAN EP300 interacting inhibitor of differentiation 1 155 cell cycle|cell differentiation|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus histone acetyltransferase binding|histone acetyltransferase regulator activity|transcription corepressor activity liver(1)|prostate(1) 2 all_lung(180;0.00455) all cancers(107;2.73e-08)|GBM - Glioblastoma multiforme(94;9.58e-07) GAGAAGACCCCGTTTGATCAG 0.448000 4 48 0.00116845 0.00845381 0.00116845 1 0 GPBP1 65056 broad.mit.edu 37 5 56527096 56527096 + Missense_Mutation SNP C C T TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr5:56527096C>T ENST00000424459.3 + 5 1633 c.359C>T c.(358-360)aCc>aTc p.T120I GPBP1_ENST00000514387.2_5'UTR|GPBP1_ENST00000264779.6_Missense_Mutation_p.T127I|GPBP1_ENST00000511209.1_Missense_Mutation_p.T127I|GPBP1_ENST00000538707.1_Missense_Mutation_p.T127I|GPBP1_ENST00000506184.2_Missense_Mutation_p.T120I|GPBP1_ENST00000454432.2_Missense_Mutation_p.T120I NM_022913.3 NP_075064.1 Q86WP2 GPBP1_HUMAN GC-rich promoter binding protein 1 120 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1) 19 Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.222) OV - Ovarian serous cystadenocarcinoma(10;7.64e-39) GACAATGAAACCGGGAGGAAA 0.398000 8 10 0 0 0.000442599 0 0 KIAA1324L 222223 broad.mit.edu 37 7 86568250 86568250 + Missense_Mutation SNP G G A TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr7:86568250G>A ENST00000450689.2 - 7 1059 c.874C>T c.(874-876)Cct>Tct p.P292S KIAA1324L_ENST00000444627.1_Missense_Mutation_p.P292S|KIAA1324L_ENST00000416314.1_Missense_Mutation_p.P125S|KIAA1324L_ENST00000297222.6_Missense_Mutation_p.P52S NM_001142749.2 NP_001136221.1 A8MWY0 K132L_HUMAN KIAA1324-like 292 integral to membrane breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 44 Esophageal squamous(14;0.0058) GGCTTGCAAGGAAAACATTCT 0.463000 12 36 0 0 0.000978159 0 0 GUCY1A3 2982 broad.mit.edu 37 4 156634314 156634314 + Missense_Mutation SNP C C T TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr4:156634314C>T ENST00000296518.7 + 7 1360 c.1151C>T c.(1150-1152)tCa>tTa p.S384L GUCY1A3_ENST00000511507.1_Missense_Mutation_p.S384L|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.S384L|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.S384L|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.S384L|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.S384L|GUCY1A3_ENST00000393832.3_Missense_Mutation_p.S126L Q02108 GCYA3_HUMAN guanylate cyclase 1, soluble, alpha 3 384 blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation guanylate cyclase complex, soluble GTP binding|guanylate cyclase activity|heme binding|receptor activity central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.17) TTTTTGGGGTCACCCTGTGTG 0.428000 5 51 0 0 8.12818e-05 0 0 CNKSR2 22866 broad.mit.edu 37 X 21450758 21450758 + Missense_Mutation SNP A A T TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chrX:21450758A>T ENST00000425654.2 + 3 737 c.257A>T c.(256-258)aAa>aTa p.K86I CNKSR2_ENST00000279451.4_Missense_Mutation_p.K86I|CNKSR2_ENST00000379510.3_Missense_Mutation_p.K86I|CNKSR2_ENST00000543067.1_Missense_Mutation_p.K86I NM_001168647.1 NP_001162118.1 Q8WXI2 CNKR2_HUMAN connector enhancer of kinase suppressor of Ras 2 86 CRIC. regulation of signal transduction cytoplasm|membrane protein binding breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3) 61 GAAAATCTAAAAACCCTTTCT 0.328000 27 112 0 0 0.001512 0 0 HNF4G 3174 broad.mit.edu 37 8 76471069 76471069 + Missense_Mutation SNP A A G TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr8:76471069A>G ENST00000396423.2 + 8 1014 c.890A>G c.(889-891)aAg>aGg p.K297R HNF4G_ENST00000354370.1_Missense_Mutation_p.K260R NM_004133.4 NP_004124.4 Q14541 HNF4G_HUMAN hepatocyte nuclear factor 4, gamma 260 endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 Breast(64;0.0448) BRCA - Breast invasive adenocarcinoma(89;0.161) GTAAAAATTAAGAACATGAGG 0.438000 10 43 0 0 0.000673444 0 0 NYNRIN 57523 broad.mit.edu 37 14 24886211 24886211 + Silent SNP C C T TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr14:24886211C>T ENST00000382554.3 + 9 5574 c.5256C>T c.(5254-5256)tcC>tcT p.S1752S NM_025081.2 NP_079357.2 Q9P2P1 NYNRI_HUMAN NYN domain and retroviral integrase containing 1752 Integrase catalytic. DNA integration integral to membrane DNA binding breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 56 GGGCCTCCTCCACTGATGCCA 0.597000 4 28 0 0 0.00116845 0 0 CCDC132 55610 broad.mit.edu 37 7 92932844 92932844 + Silent SNP C C T TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr7:92932844C>T ENST00000544910.1 + 18 1564 c.1344C>T c.(1342-1344)ttC>ttT p.F448F CCDC132_ENST00000305866.5_Silent_p.F478F|CCDC132_ENST00000541136.1_Silent_p.F289F|CCDC132_ENST00000317751.6_Silent_p.F209F|CCDC132_ENST00000535481.1_Silent_p.F198F NM_001257998.1 NP_001244927.1 Q96JG6 CC132_HUMAN coiled-coil domain containing 132 478 endometrium(1)|large_intestine(2)|lung(5) 8 all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837) STAD - Stomach adenocarcinoma(171;0.000302) AGTCAAATTTCAGCATCTTGC 0.308000 35 141 0 0 0.00148497 0 0 MYO15A 51168 broad.mit.edu 37 17 18044418 18044418 + Missense_Mutation SNP G G A rs121908972 TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr17:18044418G>A ENST00000205890.5 + 22 5830 c.5492G>A c.(5491-5493)gGa>gAa p.G1831E MYO15A_ENST00000412324.1_3'UTR NM_016239.3 NP_057323.3 Q9UKN7 MYO15_HUMAN myosin XVA 1831 Myosin head-like. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) CGCAAGGAGGGATTTCCAGTG 0.557000 OREG0024223 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 16 0 0 0.000308642 0 0 TTC16 158248 broad.mit.edu 37 9 130493449 130493449 + Missense_Mutation SNP G G A TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr9:130493449G>A ENST00000373289.3 + 14 2467 c.2387G>A c.(2386-2388)aGg>aAg p.R796K TTC16_ENST00000489226.1_3'UTR NM_144965.1 NP_659402.1 Q8NEE8 TTC16_HUMAN tetratricopeptide repeat domain 16 796 binding central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1) 22 GGCCGAAGCAGGGGACTGCTC 0.607000 8 4 0 0 0.000274275 0 0 DCC 1630 broad.mit.edu 37 18 50912435 50912435 + Silent SNP C C T TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr18:50912435C>T ENST00000442544.2 + 16 2998 c.2382C>T c.(2380-2382)atC>atT p.I794I DCC_ENST00000412726.1_Silent_p.I642I|DCC_ENST00000581580.1_Silent_p.I449I NM_005215.3 NP_005206.2 P43146 DCC_HUMAN deleted in colorectal carcinoma 794 Fibronectin type-III 4. apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6) 148 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) ATTATGTAATCTCCCTAAAAG 0.363000 7 64 0 0 0.000274275 0 0 ATR 545 broad.mit.edu 37 3 142218479 142218479 + Nonsense_Mutation SNP A A T TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr3:142218479A>T ENST00000350721.4 - 31 5491 c.5370T>A c.(5368-5370)taT>taA p.Y1790* ATR_ENST00000383101.3_Nonsense_Mutation_p.Y1726* NM_001184.3 NP_001175.2 Q13535 ATR_HUMAN ataxia telangiectasia and Rad3 related 1790 FAT. cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence PML body ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4) 122 CTGCTGCCAAATAGTTTTCCA 0.458000 Other conserved DNA damage response genes 45 92 0 0 0.000781405 0 0 IGSF10 285313 broad.mit.edu 37 3 151166575 151166575 + Silent SNP C C T rs146034413 byFrequency TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr3:151166575C>T ENST00000282466.3 - 4 1193 c.1194G>A c.(1192-1194)ccG>ccA p.P398P NM_001178145.1|NM_001178146.1|NM_178822.4 NP_001171616.1|NP_001171617.1|NP_849144.2 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 398 cell differentiation|multicellular organismal development|ossification extracellular region p.P398P(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3) 116 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) AATAGAGCTGCGGTGTTTCAC 0.428000 9 51 0 0 0.000442599 0 0 MTMR12 54545 broad.mit.edu 37 5 32263339 32263339 + Missense_Mutation SNP G G A TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr5:32263339G>A ENST00000382142.3 - 7 763 c.593C>T c.(592-594)cCc>cTc p.P198L MTMR12_ENST00000280285.5_Missense_Mutation_p.P198L|MTMR12_ENST00000264934.5_Missense_Mutation_p.P198L NM_001040446.1 NP_001035536.1 Q9C0I1 MTMRC_HUMAN myotubularin related protein 12 198 cytoplasm phosphatase activity breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 34 ATGGTTCTTGGGATCAGTGAC 0.403000 23 40 0 0 0.000375601 0 0 CRELD1 78987 broad.mit.edu 37 3 9982600 9982600 + Missense_Mutation SNP G G A TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr3:9982600G>A ENST00000383811.3 + 5 1126 c.527G>A c.(526-528)gGg>gAg p.G176E CRELD1_ENST00000326434.5_Missense_Mutation_p.G176E|CRELD1_ENST00000452070.1_Missense_Mutation_p.G176E|CRELD1_ENST00000397170.3_Missense_Mutation_p.G176E NM_015513.4 NP_056328.2 Q96HD1 CREL1_HUMAN cysteine-rich with EGF-like domains 1 176 EGF-like 1. cardiac septum development|endocardial cushion development integral to membrane calcium ion binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|urinary_tract(1) 14 GGGACACGAGGGGGCAGCGGG 0.637000 28 35 0 0 0.00106085 0 0 UGT2B17 7367 broad.mit.edu 37 4 69434077 69434077 + Silent SNP G G A TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr4:69434077G>A ENST00000317746.2 - 1 168 c.126C>T c.(124-126)atC>atT p.I42I NM_001077.3 NP_001068.1 O75795 UDB17_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B17 42 steroid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1) 30 GCTCTTCCAGGATTGTCTTCA 0.433000 125 78 0 0 0.000781405 0 0 TRBV6-7 28600 broad.mit.edu 37 7 142143907 142143907 + RNA SNP T T C TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr7:142143907T>C ENST00000390373.2 - 0 88 CTTCAGGACGTGGAATTTTGG 0.527000 4 65 0 0 0.00024832 0 0 PTCD1 26024 broad.mit.edu 37 7 99022520 99022520 + Silent SNP G G A TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr7:99022520G>A ENST00000292478.4 - 6 1885 c.1635C>T c.(1633-1635)gtC>gtT p.V545V ATP5J2-PTCD1_ENST00000413834.1_Silent_p.V594V|PTCD1_ENST00000555673.1_Silent_p.V594V NM_015545.3 NP_056360.2 pentatricopeptide repeat domain 1 endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1) 27 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) STAD - Stomach adenocarcinoma(171;0.215) TCTTTGCCAGGACCGGCAACA 0.592000 12 32 0 0 0.00136819 0 0 KIF20A 10112 broad.mit.edu 37 5 137522981 137522981 + Missense_Mutation SNP G G A TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr5:137522981G>A ENST00000394894.3 + 19 2778 c.2552G>A c.(2551-2553)cGa>cAa p.R851Q KIF20A_ENST00000508792.1_Missense_Mutation_p.R833Q NM_005733.2 NP_005724.1 O95235 KI20A_HUMAN kinesin family member 20A 851 Globular (Potential). cytokinesis|M phase of mitotic cell cycle|microtubule-based movement|protein transport|vesicle-mediated transport Golgi apparatus|microtubule|nucleoplasm ATP binding|microtubule motor activity|protein binding|transporter activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|liver(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(1) 27 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) CCATTCCTTCGAAATTTACTT 0.507000 4 26 0 0 0.000602214 0 0 OR6C6 283365 broad.mit.edu 37 12 55688288 55688288 + Missense_Mutation SNP C C T TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr12:55688288C>T ENST00000358433.2 - 1 728 c.729G>A c.(727-729)atG>atA p.M243I NM_001005493.1 NP_001005493.1 A6NF89 OR6C6_HUMAN olfactory receptor, family 6, subfamily C, member 6 243 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 AGACAACAATCATGTGGGAAG 0.368000 18 42 0 0 0.000566183 0 0 TTN 7273 broad.mit.edu 37 2 179635322 179635322 + Missense_Mutation SNP G G A TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr2:179635322G>A ENST00000589042.1 - 35 8421 c.8197C>T c.(8197-8199)Cct>Tct p.P2733S TTN_ENST00000359218.5_Missense_Mutation_p.P2687S|TTN_ENST00000342175.6_Missense_Mutation_p.P2687S|TTN_ENST00000342992.6_Missense_Mutation_p.P2733S|TTN_ENST00000460472.2_Missense_Mutation_p.P2687S|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P2733S|TTN_ENST00000360870.5_Missense_Mutation_p.P2733S NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 2471 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) TTGACATTAGGGTGTGTAAGC 0.388000 26 63 0 0 0.000586117 0 0 SVOPL 136306 broad.mit.edu 37 7 138312999 138312999 + Missense_Mutation SNP C C T TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr7:138312999C>T ENST00000421622.1 - 7 821 c.613G>A c.(613-615)Ggg>Agg p.G205R SVOPL_ENST00000288513.5_Missense_Mutation_p.G173R|SVOPL_ENST00000436657.1_Missense_Mutation_p.G173R|SVOPL_ENST00000419765.3_Missense_Mutation_p.G325R Q8N434 SVOPL_HUMAN SVOP-like 325 integral to membrane transmembrane transporter activity NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 19 CCTGAGTCCCCCCCAGTCACC 0.557000 21 55 0 0 0.000295444 0 0 SLCO2A1 6578 broad.mit.edu 37 3 133657281 133657281 + Missense_Mutation SNP C C T TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr3:133657281C>T ENST00000310926.4 - 12 1955 c.1682G>A c.(1681-1683)cGc>cAc p.R561H SLCO2A1_ENST00000493729.1_Missense_Mutation_p.R485H NM_005630.2 NP_005621.2 Q92959 SO2A1_HUMAN solute carrier organic anion transporter family, member 2A1 561 sodium-independent organic anion transport integral to plasma membrane|membrane fraction prostaglandin transmembrane transporter activity|protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2) 30 ACCCAGCAAGCGCATCAACAA 0.547000 6 98 0 0 0.000157383 0 0 MB21D2 151963 broad.mit.edu 37 3 192516600 192516600 + Missense_Mutation SNP C C T TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr3:192516600C>T ENST00000392452.2 - 2 1371 c.1051G>A c.(1051-1053)Gaa>Aaa p.E351K NM_178496.3 NP_848591.2 Q8IYB1 M21D2_HUMAN Mab-21 domain containing 2 351 endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1) 31 GCATAGTCTTCTTGAGCCAAG 0.522000 29 30 0 0 0.00106085 0 0 CLIP2 7461 broad.mit.edu 37 7 73770794 73770794 + Silent SNP C C T TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr7:73770794C>T ENST00000223398.6 + 5 1185 c.858C>T c.(856-858)atC>atT p.I286I CLIP2_ENST00000395060.1_Silent_p.I286I|CLIP2_ENST00000361545.5_Silent_p.I286I NM_003388.4 NP_003379.3 Q9UDT6 CLIP2_HUMAN CAP-GLY domain containing linker protein 2 286 microtubule associated complex breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3) 30 ACAAAGTGATCCGTATCGGCT 0.587000 26 112 0 0 0.00111076 0 0 CRELD1 78987 broad.mit.edu 37 3 9982599 9982599 + Missense_Mutation SNP G G A TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr3:9982599G>A ENST00000383811.3 + 5 1125 c.526G>A c.(526-528)Ggg>Agg p.G176R CRELD1_ENST00000326434.5_Missense_Mutation_p.G176R|CRELD1_ENST00000452070.1_Missense_Mutation_p.G176R|CRELD1_ENST00000397170.3_Missense_Mutation_p.G176R NM_015513.4 NP_056328.2 Q96HD1 CREL1_HUMAN cysteine-rich with EGF-like domains 1 176 EGF-like 1. cardiac septum development|endocardial cushion development integral to membrane calcium ion binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|urinary_tract(1) 14 AGGGACACGAGGGGGCAGCGG 0.632000 29 34 0 0 0.00127121 0 0 NPY2R 4887 broad.mit.edu 37 4 156135252 156135252 + Missense_Mutation SNP T T A TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr4:156135252T>A ENST00000329476.3 + 2 650 c.161T>A c.(160-162)aTa>aAa p.I54K NPY2R_ENST00000506608.1_Missense_Mutation_p.I54K NM_000910.2 NP_000901.1 P49146 NPY2R_HUMAN neuropeptide Y receptor Y2 54 cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis integral to plasma membrane calcium channel regulator activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1) 36 all_hematologic(180;0.24) Renal(120;0.0854) GTTGTTCTCATATTGGCCTAC 0.468000 26 36 0 0 0.001512 0 0 LPPR1 54886 broad.mit.edu 37 9 104079650 104079650 + Missense_Mutation SNP A A G TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr9:104079650A>G ENST00000374874.3 + 7 1256 c.817A>G c.(817-819)Atg>Gtg p.M273V LPPR1_ENST00000395056.2_Missense_Mutation_p.M273V NM_207299.1 NP_997182.1 Q8TBJ4 LPPR1_HUMAN 273 integral to membrane catalytic activity CCTGCAGGGAATGTGTGTGGT 0.512000 54 135 0 0 0.000781405 0 0 LAMA2 3908 broad.mit.edu 37 6 129609140 129609140 + Missense_Mutation SNP C C T TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr6:129609140C>T ENST00000421865.2 + 19 2735 c.2686C>T c.(2686-2688)Cgg>Tgg p.R896W NM_000426.3|NM_001079823.1 NP_000417.2|NP_001073291.1 P24043 LAMA2_HUMAN laminin, alpha 2 896 Laminin EGF-like 8. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) TACAACAGGCCGGTACTGTGA 0.488000 19 87 0 0 0.000375601 0 0 LRMP 4033 broad.mit.edu 37 12 25259983 25259983 + Splice_Site SNP G G A TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr12:25259983G>A ENST00000354454.3 + 20 2084 c.1256_splice c.e20+1 p.V419_splice LRMP_ENST00000548766.1_Splice_Site_p.V419_splice|LRMP_ENST00000547044.1_Splice_Site_p.V419_splice NM_006152.3 NP_006143.2 Q12912 LRMP_HUMAN lymphoid-restricted membrane protein 475 vesicle fusion|vesicle targeting endoplasmic reticulum membrane|integral to plasma membrane breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 19 Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11) TGTCTCTTCAGTGTAAGTTAT 0.378000 5 11 0 0 0.00116845 0 0 RTL1 388015 broad.mit.edu 37 14 101350838 101350838 + Silent SNP G G A TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr14:101350838G>A ENST00000534062.1 - 1 346 c.288C>T c.(286-288)ctC>ctT p.L96L MIR432_ENST00000606207.1_RNA NM_001134888.2 NP_001128360.1 E9PKS8 E9PKS8_HUMAN retrotransposon-like 1 96 breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2) 21 CCAGGTCTTGGAGTAGGTCAT 0.532000 31 35 0 0 0.000814825 0 0 SLC9C1 285335 broad.mit.edu 37 3 111997653 111997653 + Missense_Mutation SNP G G A TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr3:111997653G>A ENST00000305815.5 - 4 493 c.241C>T c.(241-243)Cgt>Tgt p.R81C SLC9C1_ENST00000467397.1_5'UTR|SLC9C1_ENST00000487372.1_Missense_Mutation_p.R81C NM_183061.1 NP_898884.1 Q4G0N8 S9A10_HUMAN solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1 81 cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis cilium|flagellar membrane|integral to membrane solute:hydrogen antiporter activity GTAAATATACGAAAAAATAAG 0.313000 49 100 0 0 0.000781405 0 0 SIGLEC5 8778 broad.mit.edu 37 19 52132319 52132319 + Silent SNP C C T TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr19:52132319C>T ENST00000222107.4 - 4 849 c.711G>A c.(709-711)caG>caA p.Q237Q SIGLEC5_ENST00000599649.1_Silent_p.Q237Q|SIGLEC5_ENST00000429354.3_Silent_p.Q237Q|SIGLEC5_ENST00000534261.2_Silent_p.Q237Q|SIGLEC5_ENST00000570106.2_Silent_p.Q237Q O15389 SIGL5_HUMAN sialic acid binding Ig-like lectin 5 237 Ig-like C2-type 2. cell adhesion integral to membrane sugar binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 27 all_neural(266;0.0726) GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218) TGGTGATGGTCTGTGGAGCAT 0.522000 29 104 0 0 0.000491102 0 0 OR5H14 403273 broad.mit.edu 37 3 97868962 97868962 + Missense_Mutation SNP C C T TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr3:97868962C>T ENST00000437310.1 + 1 793 c.733C>T c.(733-735)Ctc>Ttc p.L245F NM_001005514.1 NP_001005514.1 A6NHG9 O5H14_HUMAN olfactory receptor, family 5, subfamily H, member 14 245 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 31 TGGAGCTCATCTCTTATCTGT 0.413000 7 35 0 0 0.000157383 0 0 GRIP1 23426 broad.mit.edu 37 12 66935661 66935661 + Missense_Mutation SNP G G A TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr12:66935661G>A ENST00000359742.4 - 3 446 c.206C>T c.(205-207)tCg>tTg p.S69L GRIP1_ENST00000398016.3_Missense_Mutation_p.S69L|GRIP1_ENST00000286445.7_Missense_Mutation_p.S69L Q9Y3R0 GRIP1_HUMAN glutamate receptor interacting protein 1 69 PDZ 1. androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1) 50 GBM - Glioblastoma multiforme(2;0.00069) GBM - Glioblastoma multiforme(28;0.0933) AATTCCTCCCGATACCGTCAG 0.463000 36 205 0 0 0.00128727 0 0 AZI2 64343 broad.mit.edu 37 3 28365566 28365566 + Silent SNP A A G TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr3:28365566A>G ENST00000479665.1 - 8 1677 c.1146T>C c.(1144-1146)gaT>gaC p.D382D AZI2_ENST00000295748.3_5'UTR|CMC1_ENST00000466830.1_3'UTR NM_022461.3 NP_071906.1 Q9H6S1 AZI2_HUMAN 5-azacytidine induced 2 382 mitochondrion|plasma membrane cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 15 GATTATGTTGATCCAAGTAAT 0.388000 33 86 0 0 0.000692331 0 0 SLC17A8 246213 broad.mit.edu 37 12 100797857 100797857 + Silent SNP C C T rs112540425 TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr12:100797857C>T ENST00000323346.5 + 9 1408 c.1095C>T c.(1093-1095)atC>atT p.I365I SLC17A8_ENST00000392989.3_Silent_p.I315I NM_001145288.1|NM_139319.2 NP_001138760.1|NP_647480.1 Q8NDX2 VGLU3_HUMAN solute carrier family 17 (vesicular glutamate transporter), member 8 365 neurotransmitter transport|sensory perception of sound|sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 44 TTATGACAATCGTTGTACCTA 0.433000 17 47 0 0 0.000958276 0 0 POLG2 11232 broad.mit.edu 37 17 62487002 62487002 + Missense_Mutation SNP G G A TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr17:62487002G>A ENST00000539111.2 - 4 947 c.880C>T c.(880-882)Ccc>Tcc p.P294S NM_007215.3 NP_009146.2 Q9UHN1 DPOG2_HUMAN polymerase (DNA directed), gamma 2, accessory subunit 294 DNA repair|DNA-dependent DNA replication|glycyl-tRNA aminoacylation mitochondrial chromosome ATP binding|DNA-directed DNA polymerase activity|glycine-tRNA ligase activity|identical protein binding|single-stranded DNA binding p.P294S(1) central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(4)|skin(2)|stomach(1)|urinary_tract(1) 15 Breast(5;2.15e-14) BRCA - Breast invasive adenocarcinoma(8;4.97e-11) TTTCCCCAGGGAAAATTGTAG 0.398000 5 53 0 0 0.00116845 0 0 ELN 2006 broad.mit.edu 37 7 73449699 73449699 + Missense_Mutation SNP C C T TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr7:73449699C>T ENST00000252034.7 + 2 487 c.88C>T c.(88-90)Cct>Tct p.P30S ELN_ENST00000320492.7_Missense_Mutation_p.P30S|ELN_ENST00000380562.4_Missense_Mutation_p.P30S|ELN_ENST00000445912.1_Missense_Mutation_p.P30S|ELN_ENST00000458204.1_Missense_Mutation_p.P30S|ELN_ENST00000357036.5_Missense_Mutation_p.P30S|ELN_ENST00000380575.4_Missense_Mutation_p.P30S|ELN_ENST00000380576.5_Missense_Mutation_p.P30S|ELN_ENST00000429192.1_Missense_Mutation_p.P30S|ELN_ENST00000380584.4_Missense_Mutation_p.P30S|ELN_ENST00000320399.6_Missense_Mutation_p.P30S|ELN_ENST00000358929.4_Missense_Mutation_p.P30S|ELN_ENST00000414324.1_Missense_Mutation_p.P30S|ELN_ENST00000380553.4_Missense_Mutation_p.P30S NM_000501.2 NP_000492.2 P15502 ELN_HUMAN elastin 30 blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange proteinaceous extracellular matrix extracellular matrix constituent conferring elasticity|protein binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1) 32 Lung NSC(55;0.159) Rofecoxib(DB00533) TTCAGGGGTCCCTGGGGCCAT 0.493000 T PAX5 B-ALL """Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome""" 22 45 0 0 0.000586117 0 0 PTCD1 26024 broad.mit.edu 37 7 99022519 99022519 + Silent SNP G G A TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr7:99022519G>A ENST00000292478.4 - 6 1886 c.1636C>T c.(1636-1638)Ctg>Ttg p.L546L ATP5J2-PTCD1_ENST00000413834.1_Silent_p.L595L|PTCD1_ENST00000555673.1_Silent_p.L595L NM_015545.3 NP_056360.2 pentatricopeptide repeat domain 1 endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1) 27 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) STAD - Stomach adenocarcinoma(171;0.215) CTCTTTGCCAGGACCGGCAAC 0.592000 12 32 0 0 0.00136819 0 0 DNAH3 55567 broad.mit.edu 37 16 21049241 21049241 + Missense_Mutation SNP G G A TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr16:21049241G>A ENST00000261383.3 - 34 4791 c.4792C>T c.(4792-4794)Cac>Tac p.H1598Y DNAH3_ENST00000415178.1_Missense_Mutation_p.H1598Y NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 1598 AAA 1 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) TAGTCATAGTGATGCTGAGAG 0.542000 5 21 0 0 0.00116845 0 0 KNG1 3827 broad.mit.edu 37 3 186460064 186460064 + Missense_Mutation SNP C C T TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr3:186460064C>T ENST00000265023.4 + 10 2091 c.1879C>T c.(1879-1881)Cca>Tca p.P627S RP11-573D15.8_ENST00000354642.2_RNA|KNG1_ENST00000287611.2_Intron|KNG1_ENST00000447445.1_Intron|RP11-573D15.8_ENST00000599314.1_RNA NM_001102416.2 NP_001095886.1 P01042 KNG1_HUMAN kininogen 1 627 blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation extracellular space|plasma membrane|platelet alpha granule lumen cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2) 21 all_cancers(143;8.96e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;4.12e-20) GBM - Glioblastoma multiforme(93;0.0798) Ouabain(DB01092) TGAAATTAATCCAACCACACA 0.378000 34 73 0 0 0.00128727 0 0 STAT6 6778 broad.mit.edu 37 12 57496186 57496186 + Missense_Mutation SNP G G A TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr12:57496186G>A ENST00000300134.3 - 13 1724 c.1399C>T c.(1399-1401)Cgg>Tgg p.R467W STAT6_ENST00000454075.3_Missense_Mutation_p.R467W|STAT6_ENST00000538913.2_Missense_Mutation_p.R357W|STAT6_ENST00000556155.1_Missense_Mutation_p.R467W|STAT6_ENST00000537215.2_Missense_Mutation_p.R357W|STAT6_ENST00000543873.2_Missense_Mutation_p.R467W NM_001178078.1|NM_003153.4 NP_001171549.1|NP_003144.3 P42226 STAT6_HUMAN signal transducer and activator of transcription 6, interleukin-4 induced 467 regulation of transcription from RNA polymerase II promoter cytosol|nucleus calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1) 28 AGCAGCCCCCGGTTGGTCCCC 0.592000 23 64 0 0 0.000586117 0 0 ABHD12 26090 broad.mit.edu 37 20 25303973 25303973 + Missense_Mutation SNP G G A TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr20:25303973G>A ENST00000339157.5 - 3 682 c.410C>T c.(409-411)aCc>aTc p.T137I ABHD12_ENST00000376542.3_Missense_Mutation_p.T137I NM_001042472.2 NP_001035937.1 Q8N2K0 ABD12_HUMAN abhydrolase domain containing 12 137 integral to membrane acylglycerol lipase activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(1)|skin(1)|urinary_tract(1) 12 GACTCCAATGGTCACGTCTTC 0.498000 37 60 0 0 0.00148497 0 0 BMP15 9210 broad.mit.edu 37 X 50659023 50659023 + Missense_Mutation SNP G G A TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chrX:50659023G>A ENST00000252677.3 + 2 595 c.595G>A c.(595-597)Gga>Aga p.G199R NM_005448.2 NP_005439.2 O95972 BMP15_HUMAN bone morphogenetic protein 15 199 female gamete generation|granulosa cell development|ovarian follicle development extracellular space cytokine activity|growth factor activity NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1) 26 Ovarian(276;0.236) GAATAACAAGGGACACAGGAT 0.453000 13 62 0 0 0.000219431 0 0 LRP6 4040 broad.mit.edu 37 12 12332894 12332894 + Missense_Mutation SNP C C A TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr12:12332894C>A ENST00000261349.4 - 7 1471 c.1395G>T c.(1393-1395)tgG>tgT p.W465C LRP6_ENST00000543091.1_Missense_Mutation_p.W465C NM_002336.2 NP_002327.2 O75581 LRP6_HUMAN low density lipoprotein receptor-related protein 6 465 Beta-propeller 2. cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 85 Prostate(47;0.0865) GAATTTCTCCCCAGTCAGTCC 0.383000 12 291 0.00136819 0.00986439 0.00136819 1 0 ACBD5 91452 broad.mit.edu 37 10 27499797 27499797 + Missense_Mutation SNP G G A rs149955149 TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr10:27499797G>A ENST00000396271.3 - 9 1276 c.1150C>T c.(1150-1152)Cgg>Tgg p.R384W ACBD5_ENST00000375905.4_Missense_Mutation_p.R349W|ACBD5_ENST00000375888.1_Missense_Mutation_p.R393W|ACBD5_ENST00000476758.1_5'UTR|ACBD5_ENST00000375901.1_Missense_Mutation_p.R275W|ACBD5_ENST00000375897.3_Missense_Mutation_p.R207W NM_145698.3 NP_663736.2 Q5T8D3 ACBD5_HUMAN acyl-CoA binding domain containing 5 393 transport integral to membrane|peroxisomal membrane fatty-acyl-CoA binding breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1) 13 CGCTTCTCCCGGTGTGGTGCT 0.453000 34 51 0 0 0.00058488 0 0 PAK3 5063 broad.mit.edu 37 X 110439801 110439801 + Missense_Mutation SNP C C T TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chrX:110439801C>T ENST00000519681.1 + 17 1845 c.1403C>T c.(1402-1404)tCt>tTt p.S468F PAK3_ENST00000360648.4_Missense_Mutation_p.S483F|PAK3_ENST00000518291.1_Missense_Mutation_p.S483F|PAK3_ENST00000446737.1_Missense_Mutation_p.S447F|PAK3_ENST00000425146.1_Missense_Mutation_p.S447F|PAK3_ENST00000262836.4_Missense_Mutation_p.S462F|PAK3_ENST00000372007.4_Missense_Mutation_p.S447F|PAK3_ENST00000372010.1_Missense_Mutation_p.S462F|PAK3_ENST00000417227.1_Missense_Mutation_p.S468F O75914 PAK3_HUMAN p21 protein (Cdc42/Rac)-activated kinase 3 462 Protein kinase. multicellular organismal development ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 41 GATATCTGGTCTCTTGGAATT 0.448000 TSP Lung(19;0.15) 9 83 0 0 0.000978159 0 0 PLEKHA4 57664 broad.mit.edu 37 19 49344473 49344473 + Missense_Mutation SNP G G A TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr19:49344473G>A ENST00000263265.6 - 17 2393 c.1838C>T c.(1837-1839)tCc>tTc p.S613F PLEKHA4_ENST00000355496.5_Intron NM_020904.2 NP_065955.2 Q9H4M7 PKHA4_HUMAN pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4 613 cytoplasm|membrane 1-phosphatidylinositol binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2) 30 all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364) AAGCCGGGGGGAGGTCGGGCG 0.711000 7 12 0 0 0.000442599 0 0 SNCAIP 9627 broad.mit.edu 37 5 121787239 121787239 + Silent SNP G G A TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr5:121787239G>A ENST00000261367.7 + 12 4266 c.2838G>A c.(2836-2838)agG>agA p.R946R CTC-210G5.1_ENST00000509993.1_RNA|SNCAIP_ENST00000379538.3_Silent_p.R533R|SNCAIP_ENST00000379536.2_Silent_p.R839R|CTC-210G5.1_ENST00000510972.1_RNA|CTC-210G5.1_ENST00000506053.1_RNA|SNCAIP_ENST00000503116.2_3'UTR|SNCAIP_ENST00000414317.2_Silent_p.R501R|SNCAIP_ENST00000379533.2_Silent_p.R946R|SNCAIP_ENST00000261368.8_Silent_p.R899R|SNCAIP_ENST00000504884.2_3'UTR|SNCAIP_ENST00000542191.1_Silent_p.R457R|CTC-210G5.1_ENST00000505546.1_RNA|CTC-210G5.1_ENST00000503529.1_RNA Q9Y6H5 SNCAP_HUMAN synuclein, alpha interacting protein 899 cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion cytoplasm|neuronal cell body|nucleolus|presynaptic membrane ubiquitin protein ligase binding NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 39 all_cancers(142;0.00787)|Prostate(80;0.0327) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232) CACTTGGGAGGAAGACAGATG 0.438000 12 82 0 0 0.000308642 0 0 NPY5R 4889 broad.mit.edu 37 4 164271557 164271557 + Silent SNP G G A TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr4:164271557G>A ENST00000515560.1 + 4 1654 c.132G>A c.(130-132)ctG>ctA p.L44L NPY5R_ENST00000506953.1_Silent_p.L44L|NPY5R_ENST00000338566.3_Silent_p.L44L Q15761 NPY5R_HUMAN neuropeptide Y receptor Y5 44 cardiac left ventricle morphogenesis|outflow tract morphogenesis integral to plasma membrane NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_hematologic(180;0.166) Prostate(90;0.109) AGTATTTTCTGATTGGGCTCT 0.388000 31 46 0 0 0.00178596 0 0 NFIL3 4783 broad.mit.edu 37 9 94171671 94171671 + Missense_Mutation SNP C C T TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr9:94171671C>T ENST00000297689.3 - 2 1740 c.1346G>A c.(1345-1347)aGa>aAa p.R449K NM_005384.2 NP_005375.2 Q16649 NFIL3_HUMAN nuclear factor, interleukin 3 regulated 449 circadian rhythm|immune response|transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1) 16 GGCTATAAGTCTCTTGAGTGA 0.418000 40 27 0 0 0.000437636 0 0 CLCN1 1180 broad.mit.edu 37 7 143029880 143029880 + Missense_Mutation SNP G G A TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr7:143029880G>A ENST00000343257.2 + 12 1402 c.1315G>A c.(1315-1317)Gat>Aat p.D439N NM_000083.2 NP_000074.2 P35523 CLCN1_HUMAN chloride channel, voltage-sensitive 1 439 muscle contraction chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 58 Melanoma(164;0.205) ACACGCGGGTGATCCTGAGAG 0.527000 21 72 0 0 0.000295444 0 0 PLG 5340 broad.mit.edu 37 6 161127528 161127528 + Missense_Mutation SNP G G A TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr6:161127528G>A ENST00000308192.9 + 2 202 c.139G>A c.(139-141)Gaa>Aaa p.E47K PLG_ENST00000366924.2_Missense_Mutation_p.E47K|PLG_ENST00000462918.1_3'UTR NM_000301.3 NP_000292.1 P00747 PLMN_HUMAN plasminogen 47 PAN. extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen apolipoprotein binding|cell surface binding|serine-type endopeptidase activity p.E47K(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1) 59 OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06) Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013) AGGAAGTATAGAAGAATGTGC 0.483000 31 91 0 0 0.001512 0 0 SLITRK2 84631 broad.mit.edu 37 X 144905571 144905571 + Nonsense_Mutation SNP G G A TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chrX:144905571G>A ENST00000370490.1 + 1 5883 c.1628G>A c.(1627-1629)tGg>tAg p.W543* SLITRK2_ENST00000434188.2_Nonsense_Mutation_p.W543*|SLITRK2_ENST00000413937.2_Nonsense_Mutation_p.W543*|SLITRK2_ENST00000447897.2_Nonsense_Mutation_p.W543*|SLITRK2_ENST00000428560.2_Nonsense_Mutation_p.W543* Q9H156 SLIK2_HUMAN SLIT and NTRK-like family, member 2 543 LRRCT 2. integral to membrane NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 86 Acute lymphoblastic leukemia(192;6.56e-05) CTGAAAGACTGGACAGAACAT 0.517000 12 58 0 0 0.000151284 0 0 LAMA2 3908 broad.mit.edu 37 6 129609139 129609139 + Silent SNP C C T TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr6:129609139C>T ENST00000421865.2 + 19 2734 c.2685C>T c.(2683-2685)ggC>ggT p.G895G NM_000426.3|NM_001079823.1 NP_000417.2|NP_001073291.1 P24043 LAMA2_HUMAN laminin, alpha 2 895 Laminin EGF-like 8. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) GTACAACAGGCCGGTACTGTG 0.493000 20 88 0 0 0.00047179 0 0 FIP1L1 81608 broad.mit.edu 37 4 54256001 54256001 + Missense_Mutation SNP C C T TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr4:54256001C>T ENST00000507166.1 + 6 358 c.358C>T c.(358-360)Ctt>Ttt p.L120F FIP1L1_ENST00000507922.1_Missense_Mutation_p.L105F|FIP1L1_ENST00000306932.6_Missense_Mutation_p.L105F|FIP1L1_ENST00000337488.6_Missense_Mutation_p.L120F|FIP1L1_ENST00000358575.5_Missense_Mutation_p.L105F|FIP1L1_ENST00000510668.1_3'UTR Q6UN15 FIP1_HUMAN factor interacting with PAPOLA and CPSF1 120 Necessary for stimulating PAPOLA activity. mRNA processing nucleus RNA binding large_intestine(3)|liver(1)|ovary(1)|skin(1) 6 GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134) ACCTGTAAATCTTAACATCAA 0.308000 T PDGFRA idiopathic hypereosinophilic syndrome 5 87 0 0 0.00116845 0 0 F2R 2149 broad.mit.edu 37 5 76028770 76028770 + Silent SNP G G A TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr5:76028770G>A ENST00000319211.4 + 2 985 c.720G>A c.(718-720)aaG>aaA p.K240K NM_001992.3 NP_001983.2 P25116 PAR1_HUMAN coagulation factor II (thrombin) receptor 240 activation of caspase activity|anatomical structure morphogenesis|connective tissue replacement involved in inflammatory response wound healing|negative regulation of cell proliferation|platelet activation|positive regulation of blood coagulation|positive regulation of cell migration|positive regulation of collagen biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JAK-STAT cascade|positive regulation of MAPKKK cascade|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of transcription, DNA-dependent|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein caveola|extracellular region|Golgi apparatus|integral to plasma membrane|platelet dense tubular network receptor binding|thrombin receptor activity NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(7)|ovary(3) 16 all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129) all cancers(79;4.43e-43) Streptokinase(DB00086) TGCTCCTCAAGGAGCAAACCA 0.562000 18 36 0 0 0.00121646 0 0 KRT12 3859 broad.mit.edu 37 17 39022959 39022959 + Nonsense_Mutation SNP C C T TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr17:39022959C>T ENST00000251643.4 - 1 503 c.480G>A c.(478-480)tgG>tgA p.W160* NM_000223.3 NP_000214.1 Q99456 K1C12_HUMAN keratin 12 160 Coil 1A.|Rod. visual perception intermediate filament structural molecule activity central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2) 15 Breast(137;0.000301) GTGTTTCATACCATTCTCGAA 0.388000 16 95 0 0 0.00121646 0 0 OLFM1 10439 broad.mit.edu 37 9 137990199 137990199 + Missense_Mutation SNP C C T TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr9:137990199C>T ENST00000252854.4 + 4 657 c.470C>T c.(469-471)gCc>gTc p.A157V OLFM1_ENST00000371793.3_Missense_Mutation_p.A175V|OLFM1_ENST00000371796.3_Missense_Mutation_p.A148V NM_014279.4 NP_055094.1 Q99784 NOE1_HUMAN olfactomedin 1 175 nervous system development endoplasmic reticulum lumen protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2) 21 Myeloproliferative disorder(178;0.0333) Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07) AAGGCCGATGCCAAATTGGTA 0.448000 43 30 0 0 0.000680045 0 0 PPRC1 23082 broad.mit.edu 37 10 103899089 103899089 + Missense_Mutation SNP C C T TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr10:103899089C>T ENST00000278070.2 + 5 863 c.824C>T c.(823-825)cCc>cTc p.P275L PPRC1_ENST00000413464.2_Missense_Mutation_p.P275L NM_015062.3 NP_055877.3 Q5VV67 PPRC1_HUMAN peroxisome proliferator-activated receptor gamma, coactivator-related 1 275 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) CCGGACTTCCCCATGCATTTG 0.572000 14 34 0 0 0.000566183 0 0 MYH2 4620 broad.mit.edu 37 17 10436610 10436610 + Silent SNP C C T TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr17:10436610C>T ENST00000245503.5 - 21 2817 c.2433G>A c.(2431-2433)gtG>gtA p.V811V MYH2_ENST00000397183.2_Silent_p.V811V|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 811 IQ. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 ACCTTCTCTCCACCATCCTCT 0.433000 6 56 0 0 0.00116845 0 0 ASH1L 55870 broad.mit.edu 37 1 155450565 155450565 + Missense_Mutation SNP C C T TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr1:155450565C>T ENST00000368346.3 - 3 2735 c.2096G>A c.(2095-2097)aGc>aAc p.S699N ASH1L_ENST00000392403.3_Missense_Mutation_p.S699N Q9NR48 ASH1L_HUMAN ash1 (absent, small, or homeotic)-like (Drosophila) 699 cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|Golgi apparatus|nucleus|tight junction DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4) 124 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) AGTACTTAGGCTTTCAGCAAC 0.393000 30 33 0 0 0.001512 0 0 DNM2 1785 broad.mit.edu 37 19 10893739 10893739 + Silent SNP C C T TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr19:10893739C>T ENST00000314646.5 + 6 956 c.792C>T c.(790-792)gcC>gcT p.A264A DNM2_ENST00000355667.6_Silent_p.A264A|DNM2_ENST00000585892.1_Silent_p.A264A|DNM2_ENST00000359692.6_Silent_p.A264A|DNM2_ENST00000408974.4_Silent_p.A264A|DNM2_ENST00000389253.4_Silent_p.A264A P50570 DYN2_HUMAN dynamin 2 264 G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane GTP binding|GTPase activity|microtubule binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 42 Epithelial(33;4.17e-05)|all cancers(31;8.48e-05) CCCACCCGGCCTACCGGCACA 0.582000 """F, N, Splice, Mis, O""" ETP ALL 17 27 0 0 0.00074312 0 0 BTAF1 9044 broad.mit.edu 37 10 93741539 93741539 + Missense_Mutation SNP C C T TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr10:93741539C>T ENST00000265990.6 + 16 2203 c.1895C>T c.(1894-1896)gCt>gTt p.A632V BTAF1_ENST00000471217.1_3'UTR NM_003972.2 NP_003963.1 O14981 BTAF1_HUMAN BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa 632 negative regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6) 59 Colorectal(252;0.0846) GAAGTAAAAGCTAGAGCCAAG 0.378000 20 20 0 0 0.00121646 0 0 CDCA2 157313 broad.mit.edu 37 8 25364680 25364680 + Missense_Mutation SNP C C T TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr8:25364680C>T ENST00000330560.3 + 15 2975 c.2498C>T c.(2497-2499)tCc>tTc p.S833F CDCA2_ENST00000380665.3_Missense_Mutation_p.S818F|CDCA2_ENST00000521098.2_3'UTR NM_152562.2 NP_689775.2 Q69YH5 CDCA2_HUMAN cell division cycle associated 2 833 cell division|mitosis cytoplasm|nucleus breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3) 35 all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191) UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443) AGAAGACGTTCCATGTGTTAT 0.393000 13 29 0 0 0.000151284 0 0 OSR1 130497 broad.mit.edu 37 2 19552099 19552099 + Silent SNP G G C TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr2:19552099G>C ENST00000536433.1 - 2 3848 c.738C>G c.(736-738)ctC>ctG p.L246L OSR1_ENST00000272223.2_Silent_p.L246L Q8TAX0 OSR1_HUMAN odd-skipped related transciption factor 1 246 chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|heart development|mesangial cell development|mesonephric duct morphogenesis|metanephric cap mesenchymal cell proliferation involved in metanephros development|metanephric glomerulus vasculature development|metanephric interstitial cell development|metanephric mesenchymal cell differentiation|metanephric nephron tubule development|metanephric smooth muscle tissue development|middle ear morphogenesis|negative regulation of apoptosis|negative regulation of nephron tubule epithelial cell differentiation|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|pattern specification involved in metanephros development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of gastrulation|positive regulation of transcription from RNA polymerase II promoter|pronephros development|renal vesicle progenitor cell differentiation|specification of anterior mesonephric tubule identity|specification of posterior mesonephric tubule identity|stem cell differentiation|transcription, DNA-dependent|ureter urothelium development|ureteric bud development nucleolus nucleic acid binding|zinc ion binding breast(1)|large_intestine(2)|lung(4)|ovary(1) 8 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197) Acute lymphoblastic leukemia(84;0.221) TGTGGACAGCGAGAGTCCTGG 0.498000 4 64 0 0 0.00024832 0 0 KGFLP2 654466 broad.mit.edu 37 9 41962661 41962661 + RNA SNP G G A TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr9:41962661G>A ENST00000454645.1 - 0 843 NR_003670.1 TTTCCCCTCCGTTGTTTGTCC 0.368000 4 14 0 0 8.12818e-05 0 0 SLC1A1 6505 broad.mit.edu 37 9 4585545 4585545 + Missense_Mutation SNP C C T TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr9:4585545C>T ENST00000262352.3 + 12 1798 c.1562C>T c.(1561-1563)aCc>aTc p.T521I NM_004170.5 NP_004161.4 P43005 EAA3_HUMAN solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1 521 D-aspartate import|L-glutamate import|synaptic transmission integral to plasma membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|pancreas(1)|skin(1) 15 Acute lymphoblastic leukemia(2;0.0359)|Breast(48;0.0457) GBM - Glioblastoma multiforme(50;0.0124)|Lung(218;0.183) L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142) TTCACCCAGACCTCACAGTTC 0.463000 33 33 0 0 0.000814825 0 0 CFAP221 200373 broad.mit.edu 37 2 120362355 120362355 + Missense_Mutation SNP C C T TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr2:120362355C>T ENST00000602047.1 + 10 1153 c.41C>T c.(40-42)cCt>cTt p.P14L PCDP1_ENST00000413369.3_Missense_Mutation_p.P300L|PCDP1_ENST00000597189.1_3'UTR Q4G0U5 PCDP1_HUMAN 300 cilium calmodulin binding Colorectal(110;0.196) AAGCCGAAGCCTCAGAAGGTG 0.458000 24 59 0 0 0.000878237 0 0 MAP4 4134 broad.mit.edu 37 3 47957837 47957837 + Missense_Mutation SNP G G A TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr3:47957837G>A ENST00000426837.2 - 8 1618 c.1531C>T c.(1531-1533)Ccg>Tcg p.P511S MAP4_ENST00000360240.6_Missense_Mutation_p.P494S|MAP4_ENST00000395734.3_Missense_Mutation_p.P494S|MAP4_ENST00000383737.4_Intron P27816 MAP4_HUMAN microtubule-associated protein 4 494 17 X 14 AA tandem repeats. negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2) 32 BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736) ACTGTGGACGGAGCCACATCC 0.507000 56 113 0 0 0.000781405 0 0 FAM47C 442444 broad.mit.edu 37 X 37027043 37027043 + Missense_Mutation SNP C C T TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chrX:37027043C>T ENST00000358047.3 + 1 612 c.560C>T c.(559-561)tCc>tTc p.S187F NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 187 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 GGGGAATTCTCCCCTCGGCCT 0.642000 5 12 0 0 8.12818e-05 0 0 CDK5RAP3 80279 broad.mit.edu 37 17 46058852 46058852 + Missense_Mutation SNP T T C TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr17:46058852T>C ENST00000536708.2 + 14 1689 c.1580T>C c.(1579-1581)aTg>aCg p.M527T CDK5RAP3_ENST00000578663.1_3'UTR|CDK5RAP3_ENST00000338399.4_Missense_Mutation_p.M502T|RP11-6N17.10_ENST00000578239.1_RNA NM_001278197.1 NP_001265126.1 Q96JB5 CK5P3_HUMAN CDK5 regulatory subunit associated protein 3 502 brain development|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation neuronal Cdc2-like kinase binding NS(1)|central_nervous_system(2)|cervix(3)|endometrium(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1) 18 GTGAACCTGATGGGAACCTCT 0.547000 4 65 0 0 0.000602214 0 0 EIF2AK2 5610 broad.mit.edu 37 2 37374849 37374849 + Missense_Mutation SNP C C T TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr2:37374849C>T ENST00000233057.4 - 3 423 c.101G>A c.(100-102)gGa>gAa p.G34E EIF2AK2_ENST00000405334.1_Missense_Mutation_p.G34E|EIF2AK2_ENST00000395127.2_Missense_Mutation_p.G34E NM_001135651.2 NP_001129123.1 P19525 E2AK2_HUMAN eukaryotic translation initiation factor 2-alpha kinase 2 34 DRBM 1. evasion by virus of host immune response|modulation by virus of host cellular process|negative regulation of osteoblast proliferation|protein autophosphorylation|response to virus|viral infectious cycle cytosol ATP binding|double-stranded RNA binding|eukaryotic translation initiation factor 2alpha kinase activity|protein binding|protein phosphatase type 2A regulator activity breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1) 22 all_hematologic(82;0.248) ATGTGGAGGTCCTGAATTAGG 0.408000 23 84 0 0 0.000375601 0 0 TRBV6-7 28600 broad.mit.edu 37 7 142143906 142143906 + RNA SNP G G C rs146728507 by1000genomes TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr7:142143906G>C ENST00000390373.2 - 0 89 TCTTCAGGACGTGGAATTTTG 0.527000 4 64 0 0 0.00024832 0 0 DST 667 broad.mit.edu 37 6 56469339 56469339 + Silent SNP A A G TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr6:56469339A>G ENST00000370754.5 - 39 9987 c.9988T>C c.(9988-9990)Ttg>Ctg p.L3330L DST_ENST00000312431.6_Silent_p.L3152L|DST_ENST00000244364.6_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000370769.4_Silent_p.L3152L|DST_ENST00000361203.3_Silent_p.L3152L|DST_ENST00000421834.2_Intron|DST_ENST00000446842.2_Silent_p.L2826L Q03001 DYST_HUMAN dystonin 3152 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) CCTTCTTTCAACCTGCTTTTT 0.373000 42 60 0 0 0.00148497 0 0 TNFRSF10D 8793 broad.mit.edu 37 8 23003354 23003354 + Missense_Mutation SNP G G A TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr8:23003354G>A ENST00000312584.3 - 5 657 c.563C>T c.(562-564)tCc>tTc p.S188F NM_003840.4 NP_003831.2 Q9UBN6 TR10D_HUMAN tumor necrosis factor receptor superfamily, member 10d, decoy with truncated death domain 188 anti-apoptosis|apoptosis integral to membrane TRAIL binding|transmembrane receptor activity endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 9 Prostate(55;0.0421)|Breast(100;0.067) Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612) TTTCCCAGTGGAACTGGCAGC 0.522000 13 65 0 0 0.000219431 0 0 SLC39A10 57181 broad.mit.edu 37 2 196545152 196545152 + Missense_Mutation SNP A A T TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr2:196545152A>T ENST00000409086.3 + 2 661 c.386A>T c.(385-387)cAg>cTg p.Q129L SLC39A10_ENST00000359634.5_Missense_Mutation_p.Q129L|SLC39A10_ENST00000541054.1_Intron NM_001127257.1 NP_001120729.1 Q9ULF5 S39AA_HUMAN solute carrier family 39 (zinc transporter), member 10 129 His-rich. zinc ion transport integral to membrane metal ion transmembrane transporter activity p.Q129R(1) breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2) 34 OV - Ovarian serous cystadenocarcinoma(117;0.221) CATAACCACCAGCATTCCCAT 0.368000 19 48 0 0 0.00121646 0 0 MMAA 166785 broad.mit.edu 37 4 146563585 146563585 + Missense_Mutation SNP A A C TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr4:146563585A>C ENST00000281317.5 + 3 1720 c.510A>C c.(508-510)agA>agC p.R170S RP11-557J10.4_ENST00000504555.1_RNA|MMAA_ENST00000541599.1_5'UTR NM_172250.2 NP_758454.1 Q8IVH4 MMAA_HUMAN methylmalonic aciduria (cobalamin deficiency) cblA type 170 mitochondrion GTP binding|nucleoside-triphosphatase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1) 17 all_hematologic(180;0.151) Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) TTACTGAGAGAGGGCACAAAT 0.423000 18 138 0 0 0.000958276 0 0 PTPRU 10076 broad.mit.edu 37 1 29581894 29581894 + Missense_Mutation SNP C C T rs148144154 TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr1:29581894C>T ENST00000356870.3 + 2 291 c.181C>T c.(181-183)Cgg>Tgg p.R61W PTPRU_ENST00000373779.3_Missense_Mutation_p.R61W|PTPRU_ENST00000345512.3_Missense_Mutation_p.R61W|PTPRU_ENST00000460170.2_Missense_Mutation_p.R61W|PTPRU_ENST00000323874.8_Missense_Mutation_p.R61W|PTPRU_ENST00000428026.2_Missense_Mutation_p.R61W NM_133177.3 NP_573438.3 Q92729 PTPRU_HUMAN protein tyrosine phosphatase, receptor type, U 61 MAM. canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway cell-cell junction|integral to plasma membrane beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 79 Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871) CCCTGGCACCCGGGCACCTGC 0.607000 13 73 0 0 0.000308642 0 0 TTN 7273 broad.mit.edu 37 2 179635323 179635323 + Silent SNP G G A TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr2:179635323G>A ENST00000589042.1 - 35 8420 c.8196C>T c.(8194-8196)caC>caT p.H2732H TTN_ENST00000359218.5_Silent_p.H2686H|TTN_ENST00000342175.6_Silent_p.H2686H|TTN_ENST00000342992.6_Silent_p.H2732H|TTN_ENST00000460472.2_Silent_p.H2686H|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Silent_p.H2732H|TTN_ENST00000360870.5_Silent_p.H2732H NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 2470 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) TGACATTAGGGTGTGTAAGCT 0.393000 28 63 0 0 0.000878237 0 0 F2R 2149 broad.mit.edu 37 5 76028771 76028771 + Missense_Mutation SNP G G A TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr5:76028771G>A ENST00000319211.4 + 2 986 c.721G>A c.(721-723)Gag>Aag p.E241K NM_001992.3 NP_001983.2 P25116 PAR1_HUMAN coagulation factor II (thrombin) receptor 241 activation of caspase activity|anatomical structure morphogenesis|connective tissue replacement involved in inflammatory response wound healing|negative regulation of cell proliferation|platelet activation|positive regulation of blood coagulation|positive regulation of cell migration|positive regulation of collagen biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JAK-STAT cascade|positive regulation of MAPKKK cascade|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of transcription, DNA-dependent|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein caveola|extracellular region|Golgi apparatus|integral to plasma membrane|platelet dense tubular network receptor binding|thrombin receptor activity NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(7)|ovary(3) 16 all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129) all cancers(79;4.43e-43) Streptokinase(DB00086) GCTCCTCAAGGAGCAAACCAT 0.557000 16 36 0 0 0.00074312 0 0 TNXB 7148 broad.mit.edu 37 6 32026058 32026058 + Silent SNP G G A TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr6:32026058G>A ENST00000375244.3 - 22 7803 c.7602C>T c.(7600-7602)tcC>tcT p.S2534S TNXB_ENST00000375247.2_Silent_p.S2534S P22105 TENX_HUMAN tenascin XB 2594 Fibronectin type-III 17. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 GCGAGTCAGGGGAGGATCCTG 0.677000 43 203 0 0 0.000680045 0 0 TTN 7273 broad.mit.edu 37 2 179574440 179574440 + Missense_Mutation SNP G G A TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr2:179574440G>A ENST00000589042.1 - 99 28830 c.28606C>T c.(28606-28608)Cca>Tca p.P9536S TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.P8292S|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P9219S NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 9219 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) TTAGAAGTTGGTTGTATCTCT 0.413000 8 97 0 0 0.00136819 0 0 GPR22 2845 broad.mit.edu 37 7 107114811 107114811 + Silent SNP C C A TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr7:107114811C>A ENST00000304402.4 + 3 1649 c.306C>A c.(304-306)atC>atA p.I102I COG5_ENST00000393603.2_Intron|COG5_ENST00000347053.3_Intron|COG5_ENST00000297135.3_Intron|COG5_ENST00000475638.2_Intron NM_005295.2 NP_005286.2 Q99680 GPR22_HUMAN G protein-coupled receptor 22 102 integral to plasma membrane G-protein coupled receptor activity large_intestine(3)|lung(6)|ovary(2)|stomach(1) 12 CTATAGTTATCCTTCTGCTTT 0.358000 35 102 2.68265e-12 1.97558e-11 0.000491102 1 0 SLC26A8 116369 broad.mit.edu 37 6 35927241 35927241 + Missense_Mutation SNP G G A TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr6:35927241G>A ENST00000490799.1 - 16 2212 c.1859C>T c.(1858-1860)cCc>cTc p.P620L SLC26A8_ENST00000355574.2_Missense_Mutation_p.P620L|SLC26A8_ENST00000394602.2_Missense_Mutation_p.P515L NM_052961.3 NP_443193.1 Q96RN1 S26A8_HUMAN solute carrier family 26 (anion exchanger), member 8 620 STAS. cell differentiation|meiosis|multicellular organismal development|spermatogenesis integral to membrane|plasma membrane anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2) 46 TCTAACCCTGGGCAGCGGCTC 0.358000 33 59 0 0 0.000953801 0 0 EDNRB 1910 broad.mit.edu 37 13 78477731 78477731 + Silent SNP C C T TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr13:78477731C>T ENST00000377211.4 - 3 917 c.765G>A c.(763-765)gaG>gaA p.E255E EDNRB_ENST00000446573.1_Silent_p.E165E|EDNRB_ENST00000334286.5_Silent_p.E165E NM_001201397.1 NP_001188326.1 P24530 EDNRB_HUMAN endothelin receptor type B 165 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction integral to plasma membrane endothelin-B receptor activity|peptide hormone binding breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3) 42 Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037) GBM - Glioblastoma multiforme(99;0.0933) Bosentan(DB00559) ATGGCCAGTCCTCTGCCAGCA 0.463000 5 60 0 0 0.000602214 0 0 ASPM 259266 broad.mit.edu 37 1 197071419 197071419 + Missense_Mutation SNP G G A TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr1:197071419G>A ENST00000367409.4 - 18 7218 c.6962C>T c.(6961-6963)tCa>tTa p.S2321L ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron NM_018136.4 NP_060606.3 Q8IZT6 ASPM_HUMAN asp (abnormal spindle) homolog, microcephaly associated (Drosophila) 2321 IQ 22. mitosis cytoplasm|nucleus calmodulin binding breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3) 165 TCTTCTGTATGATGACTGGAT 0.378000 50 43 0 0 0.000781405 0 0 OTUD6A 139562 broad.mit.edu 37 X 69282687 69282687 + Missense_Mutation SNP G G A TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chrX:69282687G>A ENST00000338352.2 + 1 347 c.313G>A c.(313-315)Gag>Aag p.E105K NM_207320.1 NP_997203.1 Q7L8S5 OTU6A_HUMAN OTU domain containing 6A 105 autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1) 23 GGAGTCCGAGGAGAGGGAGCG 0.597000 4 5 0 0 0.00024832 0 0 FGA 2243 broad.mit.edu 37 4 155505773 155505773 + Missense_Mutation SNP C C T TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr4:155505773C>T ENST00000302053.3 - 6 2182 c.2104G>A c.(2104-2106)Gag>Aag p.E702K NM_000508.3 NP_000499.1 P02671 FIBA_HUMAN fibrinogen alpha chain 702 Fibrinogen C-terminal. platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 73 all_hematologic(180;0.215) Renal(120;0.0458) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031) CCTTCCCCCTCGTCATTCAGG 0.488000 33 60 0 0 0.000814825 0 0 LRRC4 64101 broad.mit.edu 37 7 127669308 127669308 + Silent SNP C C T TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr7:127669308C>T ENST00000249363.3 - 2 1643 c.1386G>A c.(1384-1386)acG>acA p.T462T SND1_ENST00000354725.3_Intron NM_022143.4 NP_071426.1 Q9HBW1 LRRC4_HUMAN leucine rich repeat containing 4 462 Thr-rich. cell junction|integral to membrane|postsynaptic membrane breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2) 26 Lung(243;0.124) GCGAGATCTCCGTGGTCTCCA 0.547000 26 86 0 0 0.000878237 0 0 ATP12A 479 broad.mit.edu 37 13 25265130 25265130 + Silent SNP C C T TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr13:25265130C>T ENST00000218548.6 + 8 1161 c.828C>T c.(826-828)acC>acT p.T276T ATP12A_ENST00000381946.3_Silent_p.T270T NM_001185085.1|NM_001676.5 NP_001172014.1|NP_001667.4 P54707 AT12A_HUMAN ATPase, H+/K+ transporting, nongastric, alpha polypeptide 270 ATP biosynthetic process hydrogen:potassium-exchanging ATPase complex ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5) 74 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228) Esomeprazole(DB00736)|Pantoprazole(DB00213) GCACTGTCACCGGCATGGTTA 0.562000 24 95 0 0 0.000878237 0 0 BFSP1 631 broad.mit.edu 37 20 17475568 17475568 + Silent SNP G G A TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr20:17475568G>A ENST00000377873.3 - 8 1188 c.1149C>T c.(1147-1149)aaC>aaT p.N383N BFSP1_ENST00000536626.1_Silent_p.N244N|BFSP1_ENST00000544874.1_Silent_p.N244N|BFSP1_ENST00000377868.2_Silent_p.N258N NM_001195.3 NP_001186.1 Q12934 BFSP1_HUMAN beaded filament structural protein 1, filensin 383 Tail. cytoplasm|intermediate filament|membrane structural constituent of cytoskeleton|structural constituent of eye lens central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1) 18 CCAGAGCTCCGTTGGTTTTGT 0.408000 54 90 0 0 0.000781405 0 0 FUBP1 8880 broad.mit.edu 37 1 78426120 78426120 + Frame_Shift_Del DEL G G - TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr1:78426120delG ENST00000370767.1 - 15 1492 c.1405delC c.(1405-1407)atfs p.H469fs FUBP1_ENST00000370768.2_Frame_Shift_Del_p.H469fs|FUBP1_ENST00000436586.2_Frame_Shift_Del_p.H490fs Q96AE4 FUBP1_HUMAN far upstream element (FUSE) binding protein 1 469 Pro-rich. transcription from RNA polymerase II promoter nucleus protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3) 17 GGAGGTCCATGGGGGCCTGGG 0.537 """F, N""" oligodendroglioma 14 7 --- --- --- --- TFPI 7035 broad.mit.edu 37 2 188348945 188348946 + Splice_Site INS - - G TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr2:188348945_188348946insG ENST00000233156.3 - 6 830 c.e6-2 TFPI_ENST00000339091.4_Splice_Site|AC007319.1_ENST00000412276.1_RNA|TFPI_ENST00000409676.1_Splice_Site|AC007319.1_ENST00000453517.1_RNA|TFPI_ENST00000392365.1_Splice_Site NM_006287.4 NP_006278.1 P10646 TFPI1_HUMAN tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor) blood coagulation, extrinsic pathway extracellular space|plasma membrane serine-type endopeptidase inhibitor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1) 9 OV - Ovarian serous cystadenocarcinoma(117;0.0554) Coagulation factor VIIa(DB00036) AACCATTCGCTGGAAAAAAATA 0.391 11 56 --- --- --- --- TBC1D5 9779 broad.mit.edu 37 3 17279855 17279855 + Frame_Shift_Del DEL T T - TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr3:17279855delT ENST00000253692.7 - 17 3052 c.1388delA c.(1387-1389)atfs p.N463fs TBC1D5_ENST00000446818.2_Frame_Shift_Del_p.N463fs|TBC1D5_ENST00000414318.2_5'UTR|TBC1D5_ENST00000429383.4_Frame_Shift_Del_p.N463fs|TBC1D5_ENST00000429924.2_Frame_Shift_Del_p.N415fs NM_014744.2 NP_055559.1 Q92609 TBCD5_HUMAN TBC1 domain family, member 5 463 intracellular protein binding|Rab GTPase activator activity NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 36 TCTTCCAAAATTAATCAGGCT 0.433 20 27 --- --- --- --- ADH1C 126 broad.mit.edu 37 4 100261040 100261041 + RNA INS - - A rs138827617 by1000genomes TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr4:100261040_100261041insA ENST00000515683.1 - 0 1316 NM_000669.3 NP_000660.1 P00326 ADH1G_HUMAN alcohol dehydrogenase 1C (class I), gamma polypeptide ethanol oxidation|xenobiotic metabolic process cytosol alcohol dehydrogenase (NAD) activity|zinc ion binding OV - Ovarian serous cystadenocarcinoma(123;1.08e-07) Fomepizole(DB01213)|NADH(DB00157) AGTGCTTTCACAAAAAAAATCA 0.327 3 4 --- --- --- --- ANGPT2 285 broad.mit.edu 37 8 6378797 6378798 + Frame_Shift_Ins INS - - T rs34047276 TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr8:6378797_6378798insT ENST00000325203.5 - 4 1174_1175 c.700_701insA c.(700-702)agtfs p.S234fs ANGPT2_ENST00000523120.1_Frame_Shift_Ins_p.S234fs|MCPH1_ENST00000344683.5_Intron|ANGPT2_ENST00000338312.6_Frame_Shift_Ins_p.S182fs|ANGPT2_ENST00000415216.1_Frame_Shift_Ins_p.S234fs O15123 ANGP2_HUMAN angiopoietin 2 234 angiogenesis|blood coagulation|leukocyte migration|negative regulation of blood vessel endothelial cell migration|negative regulation of positive chemotaxis|Tie receptor signaling pathway extracellular space metal ion binding|receptor tyrosine kinase binding breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 17 Hepatocellular(245;0.0663) Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226) GGCAGTCACTATTTTTTTTTCT 0.366 8 102 --- --- --- --- ZNF774 342132 broad.mit.edu 37 15 90904315 90904316 + Frame_Shift_Del DEL TT TT - TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr15:90904315_90904316delTT ENST00000354377.3 + 4 1438_1439 c.1252_1253delTT c.(1252-1254)tfs p.F418fs ZNF774_ENST00000379090.5_Intron NM_001004309.2 NP_001004309.2 Q6NX45 ZN774_HUMAN zinc finger protein 774 418 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|stomach(1) 14 Melanoma(11;0.00551)|Lung NSC(78;0.0158)|all_lung(78;0.0331) BRCA - Breast invasive adenocarcinoma(143;0.0224)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194) GAGCTCCCACTTTATTACCCAT 0.520 13 34 --- --- --- --- AC008103.5 0 broad.mit.edu 37 22 18842473 18842473 + RNA DEL G G - rs66618606 TCGA-HR-A2OG-01A-21D-A197-08 TCGA-HR-A2OG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82ce79a8-7fec-493f-9ea5-5609d1d159f9 64b91cae-70a9-43b6-aec2-db6fe2d66a93 g.chr22:18842473delG ENST00000412938.1 + 0 2208 AGCTGCTGGTGGGGAGGTCTT 0.647 3 3 --- --- --- ---