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 validation_method t_ref_count validation_status validation_tumor_sample t_alt_count validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut CARS 833 broad.mit.edu 37 11 3041490 3041490 + Missense_Mutation SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr11:3041490G>A uc001lxf.3 - 10 1310 c.1226C>T c.(1225-1227)tCt>tTt p.S409F CARS_uc010qxo.2_Missense_Mutation_p.S409F|CARS_uc001lxe.3_Missense_Mutation_p.S316F|CARS_uc001lxg.3_Missense_Mutation_p.S326F|CARS_uc001lxh.3_Missense_Mutation_p.S326F|CARS_uc010qxp.2_Missense_Mutation_p.S339F NM_001014437 NP_001014437 P49589 SYCC_HUMAN Homo sapiens cysteinyl-tRNA synthetase (CARS), transcript variant 3, mRNA. 326 cysteinyl-tRNA aminoacylation cytoplasm|cytosol ATP binding|cysteine-tRNA ligase activity|metal ion binding|protein homodimerization activity|tRNA binding CARS/ALK(5) central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1) 31 all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681) BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218) L-Cysteine(DB00151) TCCGGGCTTAGAGGCCTTCCA 0.627000 T ALK ALCL 75 5 0 0 0.001984 0 0 OR9A4 130075 broad.mit.edu 37 7 141619422 141619422 + Silent SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr7:141619422G>A uc003vwu.1 + 0 747 c.747G>A c.(745-747)gtG>gtA p.V249V NM_001001656 NP_001001656 Q8NGU2 OR9A4_HUMAN Homo sapiens olfactory receptor, family 9, subfamily A, member 4 (OR9A4), mRNA. 249 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2) 22 Melanoma(164;0.0171) CCTGTGTTGTGATTGGCTACG 0.502000 66 8 0 0 0.003080 0 0 SUPT5H 6829 broad.mit.edu 37 19 39964610 39964610 + Missense_Mutation SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr19:39964610G>A uc002olo.4 + 25 2679 c.2500G>A c.(2500-2502)Gaa>Aaa p.E834K SUPT5H_uc002olp.4_Missense_Mutation_p.E834K|SUPT5H_uc002olq.4_Missense_Mutation_p.E830K|SUPT5H_uc002oln.4_Missense_Mutation_p.E834K|SUPT5H_uc002olr.4_Missense_Mutation_p.E834K|SUPT5H_uc002ols.1_Missense_Mutation_p.E457K NM_001111020 NP_003160 O00267 SPT5H_HUMAN Homo sapiens suppressor of Ty 5 homolog (S. cerevisiae) (SUPT5H), transcript variant 2, mRNA. 834 cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter nucleoplasm enzyme binding|protein heterodimerization activity breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 51 all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159) Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657) CAGGGCTGAGGAAGAATATGA 0.562000 OREG0025462 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 101 5 0 0 0.001984 0 0 LILRB5 10990 broad.mit.edu 37 19 54754843 54754843 + Missense_Mutation SNP A G G TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr19:54754843A>G uc010yer.1 - 12 1903 c.1792T>C c.(1792-1794)Tcc>Ccc p.S598P LILRB3_uc002qew.2_Intron|LILRB5_uc002qey.3_Intron|LILRB5_uc002qez.3_Intron|LILRB5_uc002qex.3_Intron|LILRB5_uc002qfa.1_3'UTR O75023 LIRB5_HUMAN Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 (LILRB5), transcript variant 1, mRNA. 423 cell surface receptor linked signaling pathway|defense response integral to membrane transmembrane receptor activity NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) GGGGGTGGGGAGGCCTGGGGG 0.607000 42 4 0 0 0.009096 0 0 HRNR 388697 broad.mit.edu 37 1 152192203 152192203 + Silent SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr1:152192203G>A uc001ezt.1 - 2 1978 c.1902C>T c.(1900-1902)tcC>tcT p.S634S NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN Homo sapiens hornerin (HRNR), mRNA. 634 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) GACCGTGGCTGGAAGACTGAC 0.577000 336 12 0 0 0.016723 0 0 CTTNBP2 83992 broad.mit.edu 37 7 117431534 117431534 + Silent SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr7:117431534G>A uc003vjf.3 - 3 1808 c.1716C>T c.(1714-1716)gcC>gcT p.A572A NM_033427 NP_219499 Q8WZ74 CTTB2_HUMAN Homo sapiens cortactin binding protein 2 (CTTNBP2), mRNA. 572 breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 Lung NSC(10;0.0018)|all_lung(10;0.002) LUSC - Lung squamous cell carcinoma(290;0.133) CTGTGTTCGAGGCCCTGCTGC 0.507000 98 5 0 0 0.014758 0 0 GIMAP8 155038 broad.mit.edu 37 7 150174698 150174698 + Nonsense_Mutation SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr7:150174698C>T uc003whj.3 + 4 2158 c.1828C>T c.(1828-1830)Cag>Tag p.Q610* NM_175571 NP_783161 Q8ND71 GIMA8_HUMAN Homo sapiens GTPase, IMAP family member 8 (GIMAP8), mRNA. 610 Golgi apparatus|endoplasmic reticulum|mitochondrion GTP binding breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.17) AGGCCAGGCCCAGGAAACCCA 0.458000 122 5 0 0 0.021553 0 0 ZAN 7455 broad.mit.edu 37 7 100344181 100344181 + Missense_Mutation SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr7:100344181G>A uc003uwj.3 + 7 952 c.787G>A c.(787-789)Gac>Aac p.D263N ZAN_uc003uwk.3_Missense_Mutation_p.D263N|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript NM_003386 NP_003377 Q9Y493 ZAN_HUMAN Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA. 263 MAM 2. binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) CATGCTCCTGGACCCCAAGAA 0.587000 58 5 0 0 0.014758 0 0 OR6A2 8590 broad.mit.edu 37 11 6816292 6816292 + Silent SNP G A A rs77689755 TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr11:6816292G>A uc001mes.1 - 0 848 c.648C>T c.(646-648)ctC>ctT p.L216L NM_003696 NP_003687 O95222 OR6A2_HUMAN Homo sapiens olfactory receptor, family 6, subfamily A, member 2 (OR6A2), mRNA. 216 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.P215Q(1) breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2) 29 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) CAGTGACAGAGAGTGGCCCTA 0.502000 109 5 0 0 0.014758 0 0 ARID5B 84159 broad.mit.edu 37 10 63851616 63851616 + Missense_Mutation SNP C A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr10:63851616C>A uc001jlt.2 + 9 2850 c.2394C>A c.(2392-2394)gaC>gaA p.D798E ARID5B_uc001jlu.2_Missense_Mutation_p.D555E NM_032199 NP_115575 Q14865 ARI5B_HUMAN Homo sapiens AT rich interactive domain 5B (MRF1-like) (ARID5B), transcript variant 1, mRNA. 798 liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent protein binding|transcription regulatory region DNA binding NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 44 Prostate(12;0.016)|all_hematologic(501;0.215) CCCTTGCTGACTCCTACGTCC 0.498000 133 6 2.0095e-06 2.0847e-06 0.001984 1 0 CLIC2 1193 broad.mit.edu 37 X 154507273 154507273 + Silent SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chrX:154507273G>A uc004fnf.3 - 5 913 c.663C>T c.(661-663)gcC>gcT p.A221A NM_001289 NP_001280 O15247 CLIC2_HUMAN Homo sapiens chloride intracellular channel 2 (CLIC2), mRNA. 221 C-terminal.|GST C-terminal. signal transduction chloride channel complex|cytoplasm|nucleus voltage-gated chloride channel activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1) 18 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) ATTCTTCACGGGCATAGGCAT 0.408000 42 7 0 0 0.003080 0 0 C1orf168 199920 broad.mit.edu 37 1 57216843 57216843 + Nonsense_Mutation SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr1:57216843G>A uc001cym.4 - 8 1667 c.1261C>T c.(1261-1263)Cag>Tag p.Q421* C1orf168_uc009vzu.1_Non-coding_Transcript|C1orf168_uc001cyl.3_Non-coding_Transcript NM_001004303 NP_001004303 Q5VWT5 CA168_HUMAN Homo sapiens chromosome 1 open reading frame 168 (C1orf168), mRNA. 421 p.Q421L(1) NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2) 46 TTGGTCATCTGAATTTTTTCA 0.458000 48 9 0 0 0.004482 0 0 HNF4G 3174 broad.mit.edu 37 8 76465357 76465357 + Missense_Mutation SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr8:76465357G>A uc003yaq.3 + 5 699 c.429G>A c.(427-429)atG>atA p.M143I HNF4G_uc003yar.3_Missense_Mutation_p.M180I NM_004133 NP_004124 Q14541 HNF4G_HUMAN Homo sapiens hepatocyte nuclear factor 4, gamma (HNF4G), mRNA. 143 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) GTGAATCTATGAAACAGCAGC 0.368000 60 4 0 0 0.009096 0 0 TMC5 79838 broad.mit.edu 37 16 19455440 19455440 + Missense_Mutation SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr16:19455440C>T uc002dgc.4 + 3 1575 c.826C>T c.(826-828)Cgt>Tgt p.R276C TMC5_uc010vaq.2_Missense_Mutation_p.R276C|TMC5_uc002dgb.4_Missense_Mutation_p.R276C|TMC5_uc010var.2_Missense_Mutation_p.R276C NM_001105248 NP_001098718 Q6UXY8 TMC5_HUMAN Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA. 276 integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 31 GCCCTCATTTCGTCACAGGAG 0.463000 106 5 0 0 0.021553 0 0 MC5R 4161 broad.mit.edu 37 18 13826253 13826253 + Silent SNP C T T rs141625505 TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr18:13826253C>T uc010xaf.2 + 0 711 c.489C>T c.(487-489)atC>atT p.I163I NM_005913 NP_005904 P33032 MC5R_HUMAN Homo sapiens melanocortin 5 receptor (MC5R), mRNA. 163 G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane melanocortin receptor activity|protein binding NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1) 41 GGGCCATCATCGCCGGCATCT 0.567000 257 10 0 0 0.008291 0 0 TAF1 6872 broad.mit.edu 37 X 70598118 70598118 + Missense_Mutation SNP T C C TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chrX:70598118T>C uc004dzu.4 + 6 1015 c.964T>C c.(964-966)Tcc>Ccc p.S322P BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.4_Missense_Mutation_p.S343P NM_138923 NP_620278 P21675 TAF1_HUMAN Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa (TAF1), transcript variant 2, mRNA. 322 Protein kinase 1. G1 phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|transcription elongation from RNA polymerase II promoter|viral reproduction MLL1 complex|transcription factor TFIID complex ATP binding|TBP-class protein binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|transcription coactivator activity breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 124 Renal(35;0.156) all_lung(315;0.000321) GTCCAAATTTTCCCAATCAAC 0.463000 27 3 0 0 0.004672 0 0 XKR3 150165 broad.mit.edu 37 22 17288877 17288877 + Silent SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr22:17288877G>A uc002zlv.3 - 1 185 c.87C>T c.(85-87)ctC>ctT p.L29L XKR3_uc011agf.2_Silent_p.L29L NM_175878 NP_787074 Q5GH77 XKR3_HUMAN Homo sapiens XK, Kell blood group complex subunit-related family, member 3 (XKR3), mRNA. 29 integral to membrane|plasma membrane central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) AGCTTAGATGGAGTCTCTGGC 0.408000 76 5 0 0 0.014758 0 0 TBX20 57057 broad.mit.edu 37 7 35242110 35242110 + Nonsense_Mutation SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr7:35242110G>A uc011kas.2 - 7 1756 c.1276C>T c.(1276-1278)Cag>Tag p.Q426* NM_001077653 NP_001071121 Q9UMR3 TBX20_HUMAN Homo sapiens T-box 20 (TBX20), transcript variant 1, mRNA. 426 nucleus DNA binding central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1) 18 GGCCCCTGCTGAAAATAGTGA 0.517000 5 3 0 0 0.004672 0 0 OR56A4 120793 broad.mit.edu 37 11 6023370 6023370 + Missense_Mutation SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr11:6023370G>A uc010qzv.2 - 0 1009 c.1009C>T c.(1009-1011)Ctc>Ttc p.L337F NM_001005179 NP_001005179 Q8NGH8 O56A4_HUMAN Homo sapiens olfactory receptor, family 56, subfamily A, member 4 (OR56A4), mRNA. 285 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1) 32 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GGGGGAATGAGGTGGTGCAGG 0.498000 58 4 0 0 0.009096 0 0 GRK7 131890 broad.mit.edu 37 3 141535611 141535611 + Missense_Mutation SNP C T T rs36004830 TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr3:141535611C>T uc011bnd.2 + 3 1465 c.1381C>T c.(1381-1383)Cgc>Tgc p.R461C NM_139209 NP_631948 Q8WTQ7 GRK7_HUMAN Homo sapiens G protein-coupled receptor kinase 7 (GRK7), mRNA. 461 AGC-kinase C-terminal. R -> C (in dbSNP:rs36004830). visual perception membrane ATP binding|G-protein coupled receptor kinase activity|signal transducer activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 26 CAACTTTCCTCGCCTGGAAGC 0.443000 107 6 0 0 0.021553 0 0 CELA2A 63036 broad.mit.edu 37 1 15789236 15789236 + Missense_Mutation SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr1:15789236G>A uc001awk.3 + 3 262 c.236G>A c.(235-237)aGg>aAg p.R79K NM_033440 NP_254275 P08217 CEL2A_HUMAN Homo sapiens chymotrypsin-like elastase family, member 2A (CELA2A), mRNA. 79 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(2)|prostate(1) 16 AGCTCCTCCAGGACCTACCGC 0.617000 92 6 0 0 0.001984 0 0 ESRRG 2104 broad.mit.edu 37 1 216680424 216680424 + Missense_Mutation SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr1:216680424G>A uc001hkw.2 - 6 1407 c.1234C>T c.(1234-1236)Cgt>Tgt p.R412C ESRRG_uc009xdp.1_Missense_Mutation_p.R389C|ESRRG_uc001hky.1_Missense_Mutation_p.R389C|ESRRG_uc001hkz.2_Missense_Mutation_p.R350C|ESRRG_uc010puc.2_Missense_Mutation_p.R389C|ESRRG_uc001hla.2_Missense_Mutation_p.R389C|ESRRG_uc001hlb.2_Missense_Mutation_p.R389C|ESRRG_uc010pud.2_Missense_Mutation_p.R227C|ESRRG_uc021pja.1_Missense_Mutation_p.R161C|ESRRG_uc001hlc.1_Missense_Mutation_p.R389C|ESRRG_uc001hld.1_Missense_Mutation_p.R389C|ESRRG_uc001hkx.2_Missense_Mutation_p.R424C|ESRRG_uc009xdo.2_Missense_Mutation_p.R389C|ESRRG_uc001hle.2_Missense_Mutation_p.R389C|ESRRG_uc021piz.1_Missense_Mutation_p.R389C NM_001438 NP_001230435 P62508 ERR3_HUMAN Homo sapiens estrogen-related receptor gamma (ESRRG), transcript variant 1, mRNA. 412 positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 49 OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713) Diethylstilbestrol(DB00255) CCAGCTCGACGAGGGTCTTCC 0.512000 76 5 0 0 0.014758 0 0 PLXNA4 91584 broad.mit.edu 37 7 131878833 131878833 + Silent SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr7:131878833G>A uc003vra.4 - 13 3073 c.2844C>T c.(2842-2844)ctC>ctT p.L948L NM_020911 NP_065962 Q9HCM2 PLXA4_HUMAN Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA. 948 IPT/TIG 1. integral to membrane|intracellular|plasma membrane NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1) 45 TGAAGTAATAGAGCTGTGAGG 0.582000 51 4 0 0 0.014758 0 0 NOD2 64127 broad.mit.edu 37 16 50759472 50759472 + Silent SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr16:50759472G>A uc002egm.1 + 9 3060 c.2955G>A c.(2953-2955)ttG>ttA p.L985L NOD2_uc010vgq.1_Silent_p.L30L NM_022162 NP_071445 Q9HC29 NOD2_HUMAN Homo sapiens nucleotide-binding oligomerization domain containing 2 (NOD2), mRNA. 985 JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of Notch signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of gamma-delta T cell activation|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cell surface|cytosol|plasma membrane|vesicle ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3) 52 all_cancers(37;0.0156) ATTCAAGTTTGAAAATCCTGA 0.463000 101 5 0 0 0.014758 0 0 SERPINB13 5275 broad.mit.edu 37 18 61262319 61262319 + Silent SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr18:61262319C>T uc010xep.2 + 6 867 c.699C>T c.(697-699)ttC>ttT p.F233F SERPINB13_uc002ljc.3_Silent_p.F224F|SERPINB13_uc002ljd.3_Silent_p.F88F|SERPINB13_uc010xeq.2_Silent_p.F45F|SERPINB13_uc010xer.2_Silent_p.F45F NM_012397 NP_036529 Q9UIV8 SPB13_HUMAN Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 13 (SERPINB13), mRNA. 224 regulation of proteolysis|response to UV cytoplasm|extracellular region serine-type endopeptidase inhibitor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1) 25 GCTTCACTTTCCTGGAGGACT 0.433000 60 4 0 0 0.021553 0 0 FLG 2312 broad.mit.edu 37 1 152284324 152284324 + Missense_Mutation SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr1:152284324G>A uc001ezu.1 - 2 3074 c.3038C>T c.(3037-3039)tCc>tTc p.S1013F AK056431_uc001ezv.3_5'Flank NM_002016 NP_002007 P20930 FILA_HUMAN Homo sapiens filaggrin (FLG), mRNA. 1013 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) TCCACCAGAGGAAGTCTCTGC 0.587000 Ichthyosis 393 10 0 0 0.008291 0 0 TNR 7143 broad.mit.edu 37 1 175365770 175365770 + Missense_Mutation SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr1:175365770C>T uc001gkp.1 - 2 1231 c.1150G>A c.(1150-1152)Gag>Aag p.E384K TNR_uc009wwu.1_Missense_Mutation_p.E384K|TNR_uc010pmz.1_Missense_Mutation_p.G349E NM_003285 NP_003276 Q92752 TENR_HUMAN Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA. 384 Fibronectin type-III 1. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) GGCTCCAGCTCCGTGATGGTG 0.597000 46 4 0 0 0.009096 0 0 ODZ2 57451 broad.mit.edu 37 5 167630770 167630770 + Silent SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr5:167630770C>T uc010jjd.3 + 17 3480 c.3480C>T c.(3478-3480)ttC>ttT p.F1160F ODZ2_uc003lzr.4_Silent_p.F937F|ODZ2_uc003lzt.4_Silent_p.F533F|ODZ2_uc010jje.3_Silent_p.F431F NM_001122679 NP_001116151 Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA. p.F1002F(1)|p.F1169F(1) NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2) 122 Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242) Medulloblastoma(196;0.0241)|all_neural(177;0.026) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124) TTCAGGGATTCGAGCTGGACC 0.498000 124 7 0 0 0.003080 0 0 JDP2 122953 broad.mit.edu 37 14 75904779 75904779 + Silent SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr14:75904779C>T uc001xrq.3 + 1 382 c.189C>T c.(187-189)ttC>ttT p.F63F JDP2_uc010asj.3_Silent_p.F52F|JDP2_uc010tvb.2_Silent_p.F52F|JDP2_uc010tvc.2_Silent_p.F52F NM_001135049 NP_569736 Q8WYK2 JDP2_HUMAN Homo sapiens Jun dimerization protein 2 (JDP2), transcript variant 4, mRNA. 52 nucleus sequence-specific DNA binding lung(2) 2 BRCA - Breast invasive adenocarcinoma(234;0.0296) CCTTGCACTTCCTGGAGGTGA 0.607000 19 3 0 0 0.004672 0 0 VWA3A 146177 broad.mit.edu 37 16 22166930 22166930 + Missense_Mutation SNP C G G TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr16:22166930C>G uc010vbq.2 + 31 3544 c.3448C>G c.(3448-3450)Ctg>Gtg p.L1150V VWA3A_uc010bxd.3_Non-coding_Transcript|VWA3A_uc002dkg.4_Missense_Mutation_p.L228V|VWA3A_uc010bxe.1_Missense_Mutation_p.L252V NM_173615 NP_775886 A6NCI4 VWA3A_HUMAN Homo sapiens von Willebrand factor A domain containing 3A (VWA3A), mRNA. 1150 extracellular region haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1) 7 GBM - Glioblastoma multiforme(48;0.0439) TTTAAGGATCCTGGCCCAGGA 0.512000 137 5 0 0 0.014758 0 0 PKHD1 5314 broad.mit.edu 37 6 51774190 51774190 + Silent SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr6:51774190G>A uc003pah.1 - 39 6849 c.6573C>T c.(6571-6573)tcC>tcT p.S2191S PKHD1_uc010jzn.1_Silent_p.S216S|PKHD1_uc003pai.3_Silent_p.S2191S NM_138694 NP_619639 P08F94 PKHD1_HUMAN Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA. 2191 cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) CTTCTGGGAAGGACTGAACGA 0.498000 198 8 0 0 0.003080 0 0 NBEAL1 65065 broad.mit.edu 37 2 203972708 203972708 + Silent SNP A G G TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr2:203972708A>G uc002uzt.3 + 12 1992 c.1659A>G c.(1657-1659)gcA>gcG p.A553A NM_001114132 NP_001107604 Q6ZS30 NBEL1_HUMAN Homo sapiens neurobeachin-like 1 (NBEAL1), mRNA. 553 binding NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 37 TGACTCGAGCAATCCTGACAA 0.463000 532 14 0 0 0.028581 0 0 NLRP5 126206 broad.mit.edu 37 19 56539771 56539771 + Silent SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr19:56539771C>T uc002qmj.3 + 6 2172 c.2172C>T c.(2170-2172)tcC>tcT p.S724S NLRP5_uc002qmi.3_Silent_p.S705S NM_153447 NP_703148 P59047 NALP5_HUMAN Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA. 724 mitochondrion|nucleolus ATP binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2) 25 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) TAGCATCTTCCTTCTGCCTCC 0.488000 180 9 0 0 0.008291 0 0 ENTPD2 954 broad.mit.edu 37 9 139945549 139945549 + Silent SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr9:139945549C>T uc004ckw.2 - 4 633 c.579G>A c.(577-579)cgG>cgA p.R193R ENTPD2_uc004ckv.2_5'Flank|ENTPD2_uc022bqb.1_5'Flank|ENTPD2_uc004ckx.2_Silent_p.R193R NM_203468 NP_982293 Q9Y5L3 ENTP2_HUMAN Homo sapiens ectonucleoside triphosphate diphosphohydrolase 2 (ENTPD2), transcript variant 1, mRNA. 193 integral to membrane ATP binding endometrium(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(3) 12 all_cancers(76;0.0926) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048) GTGTCCCCTTCCGTGGCCGGA 0.677000 56 5 0 0 0.001984 0 0 ATG7 10533 broad.mit.edu 37 3 11406184 11406184 + Silent SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr3:11406184C>T uc003bwc.3 + 15 1968 c.1851C>T c.(1849-1851)acC>acT p.T617T ATG7_uc003bwd.3_Silent_p.T617T|ATG7_uc011aum.2_Silent_p.T578T NM_006395 NP_006386 O95352 ATG7_HUMAN Homo sapiens ATG7 autophagy related 7 homolog (S. cerevisiae) (ATG7), transcript variant 1, mRNA. 617 autophagy|cellular membrane fusion|positive regulation of protein modification process|protein lipidation|protein transport cytoplasm APG12 activating enzyme activity|protein homodimerization activity|ubiquitin activating enzyme activity central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1) 34 AGCCTCCAACCTCTCTTGGGC 0.488000 123 7 0 0 0.001984 0 0 WDR47 22911 broad.mit.edu 37 1 109524385 109524385 + Missense_Mutation SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr1:109524385G>A uc001dwl.3 - 12 2768 c.2392C>T c.(2392-2394)Cgt>Tgt p.R798C WDR47_uc001dwi.3_Missense_Mutation_p.R791C|WDR47_uc001dwj.3_Missense_Mutation_p.R790C|WDR47_uc010ovf.2_Missense_Mutation_p.R715C NM_001142550 NP_001136022 O94967 WDR47_HUMAN Homo sapiens WD repeat domain 47 (WDR47), transcript variant 1, mRNA. 790 breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 20 all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822) Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244) CCAACAACACGAACACAACTT 0.373000 253 8 0 0 0.004482 0 0 RASGRF1 5923 broad.mit.edu 37 15 79339128 79339128 + Missense_Mutation SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr15:79339128G>A uc002beq.3 - 4 1213 c.838C>T c.(838-840)Ccc>Tcc p.P280S RASGRF1_uc002bep.3_Missense_Mutation_p.P280S|RASGRF1_uc010blm.1_Missense_Mutation_p.P202S|RASGRF1_uc002ber.4_Missense_Mutation_p.P280S NM_002891 NP_002882 Q13972 RGRF1_HUMAN Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 1 (RASGRF1), transcript variant 1, mRNA. 280 DH. 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 TGTGTGATGGGAGGCTTCTTG 0.592000 137 12 0 0 0.016723 0 0 EFHC1 114327 broad.mit.edu 37 6 52317573 52317573 + Missense_Mutation SNP C T T rs139197513 TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr6:52317573C>T uc003pap.4 + 3 876 c.661C>T c.(661-663)Cgt>Tgt p.R221C EFHC1_uc011dwv.1_Missense_Mutation_p.R130C|EFHC1_uc011dww.2_Missense_Mutation_p.R202C NM_018100 NP_060570 Q5JVL4 EFHC1_HUMAN Homo sapiens EF-hand domain (C-terminal) containing 1 (EFHC1), transcript variant A, mRNA. 221 R -> H (in EJM1; associated with T-77; reduces substantially the cell death effect; reduces partly the calcium influx; binds to CACNA1E). axoneme|neuronal cell body calcium ion binding|protein C-terminus binding breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 27 Lung NSC(77;0.109) ACAGCCTCTTCGTAAGTATGT 0.383000 88 6 0 0 0.021553 0 0 PRSS35 167681 broad.mit.edu 37 6 84234001 84234001 + Missense_Mutation SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr6:84234001G>A uc003pjz.3 + 1 1081 c.841G>A c.(841-843)Gag>Aag p.E281K PRSS35_uc010kbm.3_Missense_Mutation_p.E281K|PRSS35_uc021zce.1_Missense_Mutation_p.E281K NM_153362 NP_699193 Q8N3Z0 PRS35_HUMAN Homo sapiens protease, serine, 35 (PRSS35), transcript variant 2, mRNA. 281 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 32 all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575) BRCA - Breast invasive adenocarcinoma(397;0.0768) TGCTCTTCTGGAGCTGAAGCG 0.493000 57 4 0 0 0.009096 0 0 CTRC 11330 broad.mit.edu 37 1 15770006 15770006 + Missense_Mutation SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr1:15770006C>T uc001awi.1 + 4 472 c.449C>T c.(448-450)cCc>cTc p.P150L CTRC_uc001awj.1_Missense_Mutation_p.P150L NM_007272 NP_009203 Q99895 CTRC_HUMAN Homo sapiens chymotrypsin C (caldecrin) (CTRC), mRNA. 150 Peptidase S1. proteolysis serine-type endopeptidase activity p.P150R(2) endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|prostate(1) 13 Breast(348;0.000207)|all_lung(284;0.00021)|Colorectal(325;0.000257)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)|Hepatocellular(190;0.0634) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) TCCCTGCTCCCCAAGGACTAC 0.582000 159 7 0 0 0.001984 0 0 DMBT1 1755 broad.mit.edu 37 10 124380767 124380767 + Missense_Mutation SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr10:124380767G>A uc001lgk.1 + 40 5198 c.5092G>A c.(5092-5094)Ggc>Agc p.G1698S DMBT1_uc001lgl.1_Missense_Mutation_p.G1688S|DMBT1_uc001lgm.1_Missense_Mutation_p.G1070S|DMBT1_uc021qaf.1_Missense_Mutation_p.G1698S|DMBT1_uc021qag.1_Missense_Mutation_p.G1688S|DMBT1_uc021qah.1_Missense_Mutation_p.G1070S|DMBT1_uc009xzz.1_Missense_Mutation_p.G1698S|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yab.1_Missense_Mutation_p.G401S|DMBT1_uc009yac.1_Missense_Mutation_p.G12S NM_007329 NP_015568 Q9UGM3 DMBT1_HUMAN Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA. 1698 SRCR 13. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) GTTTGGCCAGGGCTCAGGACC 0.612000 219 9 0 0 0.006214 0 0 FGD5 152273 broad.mit.edu 37 3 14862924 14862924 + Silent SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr3:14862924G>A uc003bzc.3 + 0 2456 c.2346G>A c.(2344-2346)tcG>tcA p.S782S FGD5_uc011avk.2_Silent_p.S782S NM_152536 NP_689749 Q6ZNL6 FGD5_HUMAN Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA. 782 actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape Golgi apparatus|cytoskeleton|lamellipodium|ruffle Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1) 54 CCATGAACTCGGACTATGAGA 0.582000 220 8 0 0 0.004482 0 0 DICER1 23405 broad.mit.edu 37 14 95584028 95584028 + Silent SNP A G G TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr14:95584028A>G uc001ydw.2 - 9 1652 c.1440T>C c.(1438-1440)acT>acC p.T480T DICER1_uc021sbc.1_Silent_p.T480T|DICER1_uc001ydv.2_Silent_p.T470T|DICER1_uc001ydx.2_Silent_p.T480T NM_030621 NP_803187 Q9UPY3 DICER_HUMAN Homo sapiens dicer 1, ribonuclease type III (DICER1), transcript variant 2, mRNA. 480 Helicase C-terminal.|Required for interaction with PRKRA and TARBP2. negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of Schwann cell differentiation|positive regulation of myelination|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference RNA-induced silencing complex|cytosol ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3) 75 all_cancers(154;0.0621)|all_epithelial(191;0.223) Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215) TGCCATGTCCAGTTATGAAAT 0.368000 """Mis F, N""" """sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma""" pleuropulmonary blastoma Familial Multinodular Goiter ;DICER 1 syndrome 53 6 0 0 0.001984 0 0 CYTIP 9595 broad.mit.edu 37 2 158272435 158272435 + Silent SNP C T T rs141179083 byFrequency TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr2:158272435C>T uc002tzj.1 - 7 906 c.834G>A c.(832-834)acG>acA p.T278T CYTIP_uc010zcl.1_Silent_p.T172T NM_004288 NP_004279 O60759 CYTIP_HUMAN Homo sapiens cytohesin 1 interacting protein (CYTIP), mRNA. 278 Ser-rich. T -> Q (in Ref. 5; AAA16575). regulation of cell adhesion cell cortex|early endosome protein binding breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2) 15 CATCTGTACTCGTCTGCCGAC 0.542000 72 6 0 0 0.001984 0 0 OR8H3 390152 broad.mit.edu 37 11 55890037 55890037 + Silent SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr11:55890037C>T uc001nii.1 + 0 189 c.189C>T c.(187-189)ttC>ttT p.F63F NM_001005201 NP_001005201 Q8N146 OR8H3_HUMAN Homo sapiens olfactory receptor, family 8, subfamily H, member 3 (OR8H3), mRNA. 63 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.F63V(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1) 42 Esophageal squamous(21;0.00693) TGTATTTTTTCCTTACTCACC 0.428000 258 8 0 0 0.006214 0 0 SLC47A1 55244 broad.mit.edu 37 17 19458975 19458975 + Silent SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr17:19458975G>A uc002gvx.3 + 7 797 c.711G>A c.(709-711)ggG>ggA p.G237G SLC47A1_uc010vyy.1_Non-coding_Transcript|SLC47A1_uc002gvy.1_Silent_p.G237G|SLC47A1_uc010vyz.1_Silent_p.G214G|SLC47A1_uc010cqp.1_Intron|SLC47A1_uc010cqq.1_Intron|SLC47A1_uc010vza.1_5'UTR|SLC47A1_uc010vzb.1_5'UTR|SLC47A1_uc010vzc.1_5'Flank|SNORA59B_uc002gvz.1_5'Flank NM_018242 NP_060712 Q96FL8 S47A1_HUMAN Homo sapiens solute carrier family 47, member 1 (SLC47A1), mRNA. 237 integral to membrane|plasma membrane drug:hydrogen antiporter activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 23 all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345) ACATCCTCGGGAAAAAACTGC 0.507000 67 6 0 0 0.003080 0 0 PLXNA4 91584 broad.mit.edu 37 7 131866242 131866242 + Silent SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr7:131866242G>A uc003vra.4 - 17 3619 c.3390C>T c.(3388-3390)atC>atT p.I1130I NM_020911 NP_065962 Q9HCM2 PLXA4_HUMAN Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA. 1130 IPT/TIG 3. integral to membrane|intracellular|plasma membrane NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1) 45 TCTTGTTGAGGATGAGCAGGG 0.592000 129 6 0 0 0.003080 0 0 KCNJ6 3763 broad.mit.edu 37 21 39087225 39087225 + Missense_Mutation SNP C T T rs143219969 TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr21:39087225C>T uc011aej.1 - 2 288 c.235G>A c.(235-237)Gat>Aat p.D79N KCNJ6_uc002ywo.2_Missense_Mutation_p.D79N NM_002240 NP_002231 P48051 IRK6_HUMAN Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 6 (KCNJ6), mRNA. 79 synaptic transmission Golgi apparatus|voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding p.D79N(4) breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 22 Halothane(DB01159) GTGAAGATATCGGTCAGGTAG 0.463000 106 6 0 0 0.003080 0 0 HEATR8 374977 broad.mit.edu 37 1 55119589 55119589 + Silent SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr1:55119589C>T uc010ooe.1 + 2 1314 c.990C>T c.(988-990)atC>atT p.I330I HEATR8_uc001cxq.3_Non-coding_Transcript|HEATR8_uc001cxo.2_Silent_p.I330I|HEATR8_uc010ooc.1_Intron|HEATR8_uc010ood.1_Intron|HEATR8_uc001cxs.2_Non-coding_Transcript|HEATR8_uc010oof.1_Non-coding_Transcript|HEATR8_uc001cxr.1_Non-coding_Transcript|HEATR8_uc010oog.1_Silent_p.I330I|HEATR8_uc010ooh.1_Non-coding_Transcript|HEATR8_uc009vzq.1_Non-coding_Transcript|HEATR8_uc001cxt.1_Non-coding_Transcript NM_001039464 NP_001034553 Q68CQ1 HEAT8_HUMAN Homo sapiens HEAT repeat containing 8 (HEATR8), transcript variant 1, mRNA. 330 Ser-rich. integral to membrane binding breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 TGACTCTAATCCTGGGTTCCA 0.557000 90 5 0 0 0.014758 0 0 PUM1 9698 broad.mit.edu 37 1 31406064 31406064 + Silent SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr1:31406064G>A uc001bsi.1 - 21 3668 c.3555C>T c.(3553-3555)atC>atT p.I1185I PUM1_uc001bsf.1_Silent_p.I853I|PUM1_uc001bsh.1_Silent_p.I1187I|PUM1_uc001bsj.1_Silent_p.I1161I|PUM1_uc010oga.1_Silent_p.I1043I|PUM1_uc001bsk.1_Silent_p.I1223I|PUM1_uc010ogb.1_Silent_p.I1126I NM_014676 NP_055491 Q14671 PUM1_HUMAN Homo sapiens pumilio homolog 1 (Drosophila) (PUM1), transcript variant 2, mRNA. 1185 cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation cytosol RNA binding breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123) STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681) TGCCTCAGATGATACCATTAG 0.522000 127 6 0 0 0.001984 0 0 MEP1A 4224 broad.mit.edu 37 6 46797217 46797217 + Silent SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr6:46797217G>A uc011dwh.1 + 8 1145 c.1137G>A c.(1135-1137)acG>acA p.T379T MEP1A_uc010jzh.1_Silent_p.T351T|MEP1A_uc011dwg.1_Silent_p.T73T|MEP1A_uc011dwi.1_Silent_p.T251T NM_005588 NP_005579 Q16819 MEP1A_HUMAN Homo sapiens meprin A, alpha (PABA peptide hydrolase) (MEP1A), mRNA. 351 MAM. digestion|proteolysis extracellular space|integral to plasma membrane|soluble fraction metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 Lung(136;0.192) ATAAAATGACGGGAAGTCCTT 0.517000 158 9 0 0 0.004482 0 0 CTAGE10P 220429 broad.mit.edu 37 13 50466783 50466783 + Missense_Mutation SNP C G G TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr13:50466783C>G uc001vdk.2 + 0 2239 c.2057C>G c.(2056-2058)aCt>aGt p.T686S Homo sapiens CTAGE family, member 10, pseudogene (CTAGE10P), non-coding RNA. AGTGAAGCAACTGGCCCTGGC 0.473000 82 4 0 0 0.004482 0 0 OR10K2 391107 broad.mit.edu 37 1 158389802 158389802 + Silent SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr1:158389802G>A uc010pii.2 - 0 855 c.855C>T c.(853-855)ttC>ttT p.F285F NM_001004476 NP_001004476 Q6IF99 O10K2_HUMAN Homo sapiens olfactory receptor, family 10, subfamily K, member 2 (OR10K2), mRNA. 285 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_hematologic(112;0.0378) TCATTGGGTTGAACAATGGAG 0.358000 66 6 0 0 0.001984 0 0 LAMA4 3910 broad.mit.edu 37 6 112522853 112522853 + Silent SNP A G G TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr6:112522853A>G uc003pvu.2 - 4 768 c.459T>C c.(457-459)gtT>gtC p.V153V LAMA4_uc003pvv.2_Silent_p.V153V|LAMA4_uc003pvt.2_Silent_p.V153V NM_001105206 NP_001098676 Q16363 LAMA4_HUMAN Homo sapiens laminin, alpha 4 (LAMA4), transcript variant 1, mRNA. 153 Laminin EGF-like 2. cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8) 100 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) AAATGCACCGAACAGCTCCAT 0.363000 340 10 0 0 0.008291 0 0 TRPM2 7226 broad.mit.edu 37 21 45825905 45825905 + Silent SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr21:45825905C>T uc010gpt.1 + 17 2875 c.2775C>T c.(2773-2775)atC>atT p.I925I TRPM2_uc002zet.1_Silent_p.I925I|TRPM2_uc002zeu.1_Silent_p.I925I|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Silent_p.I925I|TRPM2_uc002zex.1_Silent_p.I711I|TRPM2_uc002zey.1_Silent_p.I438I NM_003307 NP_003298 O94759 TRPM2_HUMAN Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA. 925 integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 76 CCAAGATCATCATTGTGAAGC 0.642000 175 9 0 0 0.006214 0 0 KCNK9 51305 broad.mit.edu 37 8 140630831 140630831 + Silent SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr8:140630831G>A uc003yvf.1 - 1 859 c.795C>T c.(793-795)gcC>gcT p.A265A KCNK9_uc003yvg.1_Silent_p.A265A|KCNK9_uc003yve.1_Non-coding_Transcript NM_016601 NP_057685 Q9NPC2 KCNK9_HUMAN Homo sapiens potassium channel, subfamily K, member 9 (KCNK9), mRNA. 265 integral to membrane|membrane fraction potassium channel activity|voltage-gated ion channel activity p.A265T(2) NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1) 43 all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155) Ovarian(118;0.134) BRCA - Breast invasive adenocarcinoma(115;0.0855) TGCGGTTTCCGGCGAGGGATG 0.627000 65 6 0 0 0.021553 0 0 F7 2155 broad.mit.edu 37 13 113770093 113770093 + Missense_Mutation SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr13:113770093G>A uc001vsv.3 + 5 601 c.550G>A c.(550-552)Ggg>Agg p.G184R F7_uc010agp.1_Missense_Mutation_p.G177R|F7_uc001vsw.3_Missense_Mutation_p.G162R|F7_uc010tjt.2_Missense_Mutation_p.G115R NM_000131 NP_000122 P08709 FA7_HUMAN Homo sapiens coagulation factor VII (serum prothrombin conversion accelerator) (F7), transcript variant 1, mRNA. 184 EGF-like 2. anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis Golgi lumen|endoplasmic reticulum lumen|plasma membrane calcium ion binding|glycoprotein binding|serine-type endopeptidase activity large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 16 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188) all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218) Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170) GCTGGCAGACGGGGTGTCCTG 0.597000 31 3 0 0 0.009096 0 0 CPOX 1371 broad.mit.edu 37 3 98304426 98304426 + Missense_Mutation SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr3:98304426G>A uc003dsx.3 - 4 1138 c.1031C>T c.(1030-1032)tCt>tTt p.S344F NM_000097 NP_000088 P36551 HEM6_HUMAN Homo sapiens coproporphyrinogen oxidase (CPOX), mRNA. 344 mitochondrial intermembrane space coproporphyrinogen oxidase activity|protein homodimerization activity endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1) 16 CTTGGACGGAGAGTCAAGATC 0.483000 122 8 0 0 0.003080 0 0 GNAT2 2780 broad.mit.edu 37 1 110146621 110146621 + Missense_Mutation SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr1:110146621C>T uc001dya.3 - 6 1039 c.826G>A c.(826-828)Gaa>Aaa p.E276K NM_005272 NP_005263 P19087 GNAT2_HUMAN Homo sapiens guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2 (GNAT2), mRNA. 276 G-protein signaling, coupled to cAMP nucleotide second messenger|detection of chemical stimulus involved in sensory perception of bitter taste|rhodopsin mediated phototransduction heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment membrane G-protein beta/gamma-subunit complex binding|G-protein coupled photoreceptor activity|G-protein-coupled receptor binding|GTP binding|GTPase activity p.E276K(2) NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1) 14 all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244) Lung(183;0.0422)|Colorectal(144;0.108)|Epithelial(280;0.125)|all cancers(265;0.129)|LUSC - Lung squamous cell carcinoma(189;0.227) TTGATTTTTTCCTCAAAGAGG 0.393000 53 6 0 0 0.021553 0 0 RIMKLA 284716 broad.mit.edu 37 1 42875708 42875708 + Silent SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr1:42875708C>T uc001chi.2 + 3 673 c.535C>T c.(535-537)Ctg>Ttg p.L179L NM_173642 NP_775913 Q8IXN7 RIMKA_HUMAN Homo sapiens ribosomal modification protein rimK-like family member A (RIMKLA), mRNA. 179 ATP-grasp. protein modification process cytoplasm ATP binding|acid-amino acid ligase activity|metal ion binding NS(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 13 CATCTGCCATCTGATCCGCCA 0.507000 117 13 0 0 0.028581 0 0 ANK3 288 broad.mit.edu 37 10 61815462 61815462 + Missense_Mutation SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr10:61815462C>T uc001jky.3 - 41 13357 c.13019G>A c.(13018-13020)aGg>aAg p.R4340K ANK3_uc001jkw.3_Missense_Mutation_p.R964K|ANK3_uc009xpa.3_Missense_Mutation_p.R964K|ANK3_uc001jkx.3_Missense_Mutation_p.R1008K|ANK3_uc010qih.2_Missense_Mutation_p.R1831K|ANK3_uc001jkz.4_Missense_Mutation_p.R1824K|ANK3_uc001jkv.3_Missense_Mutation_p.R363K NM_020987 NP_066267 Q12955 ANK3_HUMAN Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA. 4340 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 GAGGCTAAGCCTTGGCTTGCC 0.468000 221 10 0 0 0.010729 0 0 FLRT2 23768 broad.mit.edu 37 14 86088459 86088459 + Nonsense_Mutation SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr14:86088459C>T uc021rxf.1 + 0 601 c.601C>T c.(601-603)Cag>Tag p.Q201* FLRT2_uc001xvr.3_Nonsense_Mutation_p.Q201*|FLRT2_uc010atd.3_Nonsense_Mutation_p.Q201* NM_013231 NP_037363 O43155 FLRT2_HUMAN Homo sapiens fibronectin leucine rich transmembrane protein 2 (FLRT2), mRNA. 201 cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 73 BRCA - Breast invasive adenocarcinoma(234;0.0319) CATGGCCTTCCAGAATCTCAC 0.522000 98 5 0 0 0.014758 0 0 STON2 85439 broad.mit.edu 37 14 81744382 81744382 + Missense_Mutation SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr14:81744382G>A uc010tvu.2 - 3 1471 c.1273C>T c.(1273-1275)Cgt>Tgt p.R425C STON2_uc001xvk.1_Missense_Mutation_p.R425C|STON2_uc010tvt.2_Missense_Mutation_p.R222C NM_033104 NP_149095 Q8WXE9 STON2_HUMAN Homo sapiens stonin 2 (STON2), transcript variant 1, mRNA. 425 endocytosis|intracellular protein transport|regulation of endocytosis clathrin adaptor complex|nucleolus protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5) 34 BRCA - Breast invasive adenocarcinoma(234;0.0348) CACCCGTCACGAGGCTGGGAC 0.532000 118 5 0 0 0.014758 0 0 LPA 4018 broad.mit.edu 37 6 161012037 161012037 + Silent SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr6:161012037C>T uc003qtl.3 - 23 3846 c.3726G>A c.(3724-3726)ctG>ctA p.L1242L NM_005577 NP_005568 P08519 APOA_HUMAN Homo sapiens lipoprotein, Lp(a) (LPA), mRNA. 3750 Kringle 11. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1) 107 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) GACATTGTGTCAGGTTGCAGT 0.507000 46 5 0 0 0.014758 0 0 OR1L1 26737 broad.mit.edu 37 9 125424061 125424061 + Missense_Mutation SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr9:125424061G>A uc022bmz.1 + 0 67 c.67G>A c.(67-69)Gat>Aat p.D23N NM_001005236 NP_001005236 Q8NH94 OR1L1_HUMAN Homo sapiens olfactory receptor, family 1, subfamily L, member 1 (OR1L1), mRNA. 73 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.K23R(1) breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1) 17 TCGACCTGAGGATCAGAAGCC 0.478000 49 4 0 0 0.009096 0 0 SUN5 140732 broad.mit.edu 37 20 31583443 31583443 + Missense_Mutation SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr20:31583443C>T uc002wyi.3 - 7 609 c.516G>A c.(514-516)atG>atA p.M172I NM_080675 NP_542406 Q8TC36 SUN5_HUMAN Homo sapiens Sad1 and UNC84 domain containing 5 (SUN5), mRNA. 172 spermatogenesis endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 25 ACATGGCTTCCATCTCCTGGA 0.493000 214 7 0 0 0.003080 0 0 SLC6A16 28968 broad.mit.edu 37 19 49797112 49797112 + Silent SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr19:49797112G>A uc002pmz.3 - 8 1824 c.1590C>T c.(1588-1590)ttC>ttT p.F530F SLC6A16_uc002pna.3_Silent_p.F530F NM_014037 NP_054756 Q9GZN6 S6A16_HUMAN Homo sapiens solute carrier family 6, member 16 (SLC6A16), mRNA. 530 integral to membrane|intracellular neurotransmitter:sodium symporter activity NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336) GTTTCCTGAAGAAAGAGAAGG 0.498000 197 10 0 0 0.010729 0 0 USP2 9099 broad.mit.edu 37 11 119243689 119243689 + Missense_Mutation SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr11:119243689G>A uc001pwm.4 - 1 797 c.502C>T c.(502-504)Cgc>Tgc p.R168C USP2_uc001pwn.4_Intron NM_004205 NP_004196 O75604 UBP2_HUMAN Homo sapiens ubiquitin specific peptidase 2 (USP2), transcript variant 1, mRNA. 168 Necessary for interaction with MDM4. cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process nucleus|perinuclear region of cytoplasm cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1) 24 all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157) BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889) ATGGGGCTGCGGCCCAGGTTC 0.632000 98 5 0 0 0.021553 0 0 PPP1R9B 84687 broad.mit.edu 37 17 48216840 48216840 + Missense_Mutation SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr17:48216840G>A uc002iqh.4 - 6 1952 c.1949C>T c.(1948-1950)tCc>tTc p.S650F NM_032595 NP_115984 Q96SB3 NEB2_HUMAN Homo sapiens protein phosphatase 1, regulatory subunit 9B (PPP1R9B), mRNA. 656 Interacts with TGN38 (By similarity). RNA splicing|cell cycle arrest|cell differentiation|cell migration|filopodium assembly|negative regulation of cell growth|nervous system development|regulation of cell growth by extracellular stimulus|regulation of cell proliferation|regulation of exit from mitosis adherens junction|cytoskeleton|dendritic spine|filopodium|lamellipodium|nucleoplasm|protein phosphatase type 1 complex|ruffle membrane|synapse actin binding|protein phosphatase 1 binding|protein phosphatase inhibitor activity endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1) 8 GTCCACAGGGGACAGTGCATC 0.617000 178 7 0 0 0.004482 0 0 EGFL6 25975 broad.mit.edu 37 X 13624618 13624618 + Missense_Mutation SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chrX:13624618G>A uc004cvj.3 + 5 928 c.641G>A c.(640-642)cGa>cAa p.R214Q EGFL6_uc004cvi.3_Missense_Mutation_p.R214Q|EGFL6_uc011mik.1_Missense_Mutation_p.R115Q NM_001167890 NP_001161362 Q8IUX8 EGFL6_HUMAN Homo sapiens EGF-like-domain, multiple 6 (EGFL6), transcript variant 2, mRNA. 214 cell adhesion|cell cycle|cell differentiation|multicellular organismal development basement membrane|extracellular space|membrane calcium ion binding|integrin binding breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)|skin(3) 23 ATCAGTGGACGATATGACTGT 0.403000 55 6 0 0 0.001984 0 0 RIMBP2 23504 broad.mit.edu 37 12 130883694 130883694 + Missense_Mutation SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr12:130883694G>A uc001uil.2 - 18 3361 c.3145C>T c.(3145-3147)Cat>Tat p.H1049Y NM_015347 NP_056162 O15034 RIMB2_HUMAN Homo sapiens RIMS binding protein 2 (RIMBP2), mRNA. 1049 cell junction|synapse NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 96 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.213) OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05) GGTGTGAAATGAACACTCTTC 0.333000 107 5 0 0 0.021553 0 0 RBMY1A3P 286557 broad.mit.edu 37 Y 9160442 9160442 + RNA SNP A C C TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chrY:9160442A>C uc004frl.1 - 0 c.42T>G Homo sapiens RNA binding motif protein, Y-linked, family 1, member A3 pseudogene (RBMY1A3P), non-coding RNA. TTGAGGCCACAAATGAAAAGC 0.348000 30 3 0 0 0.004672 0 0 USP54 159195 broad.mit.edu 37 10 75289450 75289450 + Missense_Mutation SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr10:75289450G>A uc001juo.3 - 12 2065 c.2048C>T c.(2047-2049)tCa>tTa p.S683L USP54_uc001juk.3_5'UTR|USP54_uc001jul.3_5'UTR|USP54_uc001jum.3_Non-coding_Transcript|USP54_uc001jun.3_Non-coding_Transcript|USP54_uc001jup.3_Missense_Mutation_p.S683L|U6_uc021ptn.1_5'Flank|USP54_uc010qkl.1_Missense_Mutation_p.S683L NM_152586 NP_689799 Q70EL1 UBP54_HUMAN Homo sapiens ubiquitin specific peptidase 54 (USP54), mRNA. 683 ubiquitin-dependent protein catabolic process protein binding|ubiquitin thiolesterase activity breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1) 30 Prostate(51;0.0112) GTAGACATTTGAGCTCTCAGG 0.527000 OREG0020266 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 182 14 0 0 0.020292 0 0 ABCC8 6833 broad.mit.edu 37 11 17485033 17485033 + Silent SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr11:17485033G>A uc001mnc.3 - 3 657 c.531C>T c.(529-531)atC>atT p.I177I ABCC8_uc010rcy.1_Silent_p.I177I NM_000352 NP_000343 Q09428 ABCC8_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA. 177 carbohydrate metabolic process|energy reserve metabolic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity p.V176V(1) NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912) TCCCATAGAGGATCACCAGCA 0.597000 422 14 0 0 0.004990 0 0 FLG 2312 broad.mit.edu 37 1 152284513 152284513 + Missense_Mutation SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr1:152284513C>T uc001ezu.1 - 2 2885 c.2849G>A c.(2848-2850)aGt>aAt p.S950N AK056431_uc001ezv.3_5'Flank NM_002016 NP_002007 P20930 FILA_HUMAN Homo sapiens filaggrin (FLG), mRNA. 950 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) CTCACTGTCACTGTCCTGGCT 0.562000 Ichthyosis 274 8 0 0 0.006214 0 0 CDK19 23097 broad.mit.edu 37 6 110942464 110942465 + Missense_Mutation DNP CC AT AT TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr6:110942464_110942465CC>AT uc003puh.1 - 11 1292_1293 c.1219_1220GG>AT c.(1219-1221)ggg>ATg p.G407M CDK19_uc003pui.1_Missense_Mutation_p.G347M|CDK19_uc011eax.1_Missense_Mutation_p.G283M NM_015076 NP_055891 Q9BWU1 CDK19_HUMAN Homo sapiens cyclin-dependent kinase 19 (CDK19), mRNA. 407 ATP binding|cyclin-dependent protein kinase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1) 22 ACCTGCGGTCCCGTTGGTCTGG 0.678000 92 9 0 0 0.004672 0 0 UBIAD1 29914 broad.mit.edu 37 1 11346014 11346014 + Silent SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr1:11346014C>T uc001asg.3 + 1 1177 c.843C>T c.(841-843)atC>atT p.I281I NM_013319 NP_037451 Q9Y5Z9 UBIA1_HUMAN Homo sapiens UbiA prenyltransferase domain containing 1 (UBIAD1), mRNA. 281 menaquinone biosynthetic process endoplasmic reticulum membrane|integral to membrane|mitochondrion|nucleus prenyltransferase activity endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(3) 12 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.012)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.52e-06)|COAD - Colon adenocarcinoma(227;0.000254)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0487) ACTGCACCATCAGCCTGGCAC 0.572000 140 7 0 0 0.003080 0 0 TULP2 7288 broad.mit.edu 37 19 49388786 49388786 + Missense_Mutation SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr19:49388786C>T uc002pkz.2 - 8 1131 c.980G>A c.(979-981)aGg>aAg p.R327K NM_003323 NP_003314 O00295 TULP2_HUMAN Homo sapiens tubby like protein 2 (TULP2), mRNA. 327 visual perception cytoplasm|extracellular region NS(1)|breast(2)|central_nervous_system(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2) 22 all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234) AGTTTTGCTCCTTCTTCTCTT 0.512000 57 7 0 0 0.001984 0 0 FLNB 2317 broad.mit.edu 37 3 58084612 58084612 + Missense_Mutation SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr3:58084612C>T uc003djj.2 + 7 1487 c.1322C>T c.(1321-1323)cCc>cTc p.P441L FLNB_uc010hne.2_Missense_Mutation_p.P441L|FLNB_uc003djk.2_Missense_Mutation_p.P441L|FLNB_uc010hnf.2_Missense_Mutation_p.P441L|FLNB_uc003djl.2_Missense_Mutation_p.P272L|FLNB_uc003djm.2_Missense_Mutation_p.P272L NM_001457 NP_001448 O75369 FLNB_HUMAN Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA. 441 actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction cell cortex|integral to membrane|nucleus|sarcomere actin binding NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5) 120 BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898) CCTAAGAGTCCCTTCGTTGTG 0.547000 86 5 0 0 0.014758 0 0 ATP6AP2 10159 broad.mit.edu 37 X 40450601 40450601 + Missense_Mutation SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chrX:40450601C>T uc004det.3 + 2 386 c.284C>T c.(283-285)tCg>tTg p.S95L ATP6AP2_uc010nhc.3_Non-coding_Transcript|ATP6AP2_uc011mkl.2_Missense_Mutation_p.S19L|ATP6AP2_uc011mkm.2_Missense_Mutation_p.S95L|ATP6AP2_uc011mkn.2_Missense_Mutation_p.S95L NM_005765 NP_005756 O75787 RENR_HUMAN Homo sapiens ATPase, H+ transporting, lysosomal accessory protein 2 (ATP6AP2), mRNA. 95 angiotensin maturation|positive regulation of transforming growth factor-beta1 production|regulation of MAPKKK cascade external side of plasma membrane|integral to membrane protein binding|receptor activity p.S95A(1) endometrium(1)|large_intestine(1)|lung(2) 4 AGTGTCATTTCGTACCCTTTG 0.428000 23 5 0 0 0.014758 0 0 FAM75D1 389763 broad.mit.edu 37 9 84605862 84605862 + Silent SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr9:84605862G>A uc004amn.3 + 3 524 c.477G>A c.(475-477)ttG>ttA p.L159L NM_001001670 NP_001001670 Q6ZQQ2 F75D1_HUMAN Homo sapiens family with sequence similarity 75, member D1 (FAM75D1), mRNA. 159 integral to membrane cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(57)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1) 88 TGTCCCCTTTGGCTTCTTCGG 0.567000 48 5 0 0 0.021553 0 0 OR10R2 343406 broad.mit.edu 37 1 158449784 158449784 + Silent SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr1:158449784C>T uc010pik.2 + 0 117 c.117C>T c.(115-117)agC>agT p.S39S AK057554_uc001fso.1_Non-coding_Transcript NM_001004472 NP_001004472 Q8NGX6 O10R2_HUMAN Homo sapiens olfactory receptor, family 10, subfamily R, member 2 (OR10R2), mRNA. 39 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S38F(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 41 all_hematologic(112;0.0378) GTTTTTCCAGCCTTGGTGAAA 0.418000 97 7 0 0 0.001984 0 0 DIDO1 11083 broad.mit.edu 37 20 61513451 61513451 + Missense_Mutation SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr20:61513451G>A uc002ydr.2 - 15 4169 c.3857C>T c.(3856-3858)cCa>cTa p.P1286L DIDO1_uc002yds.2_Missense_Mutation_p.P1286L NM_001193369 NP_149072 Q9BTC0 DIDO1_HUMAN Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA. 1286 Pro-rich. apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 99 Breast(26;5.68e-08) TGCTGTGGCTGGGCTGGGGGC 0.642000 88 8 0 0 0.008291 0 0 DMC1 11144 broad.mit.edu 37 22 38917728 38917729 + Splice_Site DNP AG TA TA TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr22:38917728_38917729AG>TA uc003avz.1 - 13 1012 c.837_splice c.e13-1 p.T279_splice DMC1_uc011anv.1_Splice_Site_p.T224_splice NM_007068 NP_008999 Q14565 DMC1_HUMAN Homo sapiens DMC1 dosage suppressor of mck1 homolog, meiosis-specific homologous recombination (yeast) (DMC1), mRNA. 279 reciprocal meiotic recombination condensed nuclear chromosome ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 11 Melanoma(58;0.0286) TCTGCCTGAAAGCTGAATTAAT 0.411000 Homologous recombination 80 8 0 0 0.004672 0 0 FAM171A1 221061 broad.mit.edu 37 10 15256046 15256046 + Missense_Mutation SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr10:15256046G>A uc001iob.3 - 7 1548 c.1541C>T c.(1540-1542)aCc>aTc p.T514I NM_001010924 NP_001010924 Q5VUB5 F1711_HUMAN Homo sapiens family with sequence similarity 171, member A1 (FAM171A1), mRNA. 514 integral to membrane breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 52 TTCCTGAATGGTGAGTTTGCT 0.512000 148 7 0 0 0.001984 0 0 HAO2 51179 broad.mit.edu 37 1 119936434 119936434 + Nonsense_Mutation SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr1:119936434C>T uc001ehr.1 + 7 1159 c.1027C>T c.(1027-1029)Cga>Tga p.R343* HAO2_uc001ehq.1_Nonsense_Mutation_p.R343* NM_016527 NP_057611 Q9NYQ3 HAOX2_HUMAN Homo sapiens hydroxyacid oxidase 2 (long chain) (HAO2), transcript variant 1, mRNA. 343 FMN hydroxy acid dehydrogenase. fatty acid alpha-oxidation peroxisome (S)-2-hydroxy-acid oxidase activity breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2) 30 all_neural(166;0.187) all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284) Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856) TGAGATCAATCGAAACTTGGT 0.478000 125 5 0 0 0.014758 0 0 ASMT 438 broad.mit.edu 37 X 1742160 1742160 + Silent SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chrX:1742160C>T uc004cqd.3 + 2 414 c.198C>T c.(196-198)atC>atT p.I66I ASMT_uc010ncy.3_Silent_p.I66I|ASMT_uc004cqe.3_Silent_p.I66I NM_004043 NP_004034 P46597 HIOM_HUMAN Homo sapiens acetylserotonin O-methyltransferase (ASMT), transcript variant 2, mRNA. 66 melatonin biosynthetic process|translation cytosol S-methyltransferase activity|acetylserotonin O-methyltransferase activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1) 16 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) TGCTGGACATCTGTGTGTCCC 0.612000 41 5 0 0 0.014758 0 0 OR9A4 130075 broad.mit.edu 37 7 141618723 141618723 + Silent SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr7:141618723C>T uc003vwu.1 + 0 48 c.48C>T c.(46-48)ttC>ttT p.F16F NM_001001656 NP_001001656 Q8NGU2 OR9A4_HUMAN Homo sapiens olfactory receptor, family 9, subfamily A, member 4 (OR9A4), mRNA. 16 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2) 22 Melanoma(164;0.0171) TCCTTGGCTTCCCTGGCTCTG 0.378000 147 8 0 0 0.004482 0 0 QRICH1 54870 broad.mit.edu 37 3 49095126 49095126 + Silent SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr3:49095126G>A uc010hkq.3 - 3 803 c.507C>T c.(505-507)atC>atT p.I169I QRICH1_uc003cvu.3_Silent_p.I169I|QRICH1_uc003cvv.3_Silent_p.I169I|QRICH1_uc021wxr.1_Silent_p.I106I NM_198880 NP_942581 Q2TAL8 QRIC1_HUMAN Homo sapiens glutamine-rich 1 (QRICH1), transcript variant 2, mRNA. 169 Gln-rich. breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1) 25 BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258) GCTGCACCTGGATCTGAGCTG 0.622000 111 6 0 0 0.021553 0 0 SUN5 140732 broad.mit.edu 37 20 31571702 31571702 + Nonsense_Mutation SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr20:31571702C>T uc002wyi.3 - 12 1131 c.1038G>A c.(1036-1038)tgG>tgA p.W346* NM_080675 NP_542406 Q8TC36 SUN5_HUMAN Homo sapiens Sad1 and UNC84 domain containing 5 (SUN5), mRNA. 346 SUN. spermatogenesis endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 25 CTGGGTTCCCCCAGTTGCTTG 0.597000 117 10 0 0 0.008291 0 0 OR8U8 504189 broad.mit.edu 37 11 56143558 56143558 + Silent SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr11:56143558C>T uc001nit.2 + 0 459 c.459C>T c.(457-459)ttC>ttT p.F153F NM_001013356 NP_001013374 P0C7N1 OR8U8_HUMAN Homo sapiens olfactory receptor, family 8, subfamily U, member 8 (OR8U8), mRNA. 153 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity GCTATAGCTTCCTAATGGCAC 0.438000 114 7 0 0 0.003080 0 0 MKI67 4288 broad.mit.edu 37 10 129906972 129906972 + Silent SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr10:129906972G>A uc001lke.3 - 12 3327 c.3132C>T c.(3130-3132)ttC>ttT p.F1044F MKI67_uc001lkf.3_Silent_p.F684F|MKI67_uc009yav.1_Silent_p.F619F|MKI67_uc009yaw.1_Silent_p.F194F NM_002417 NP_002408 P46013 KI67_HUMAN Homo sapiens antigen identified by monoclonal antibody Ki-67 (MKI67), transcript variant 1, mRNA. 1044 16 X 122 AA approximate repeats. cell proliferation nucleolus ATP binding|protein C-terminus binding NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4) 159 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) ACGTCCGTGTGAACTTGCCGA 0.522000 296 10 0 0 0.010729 0 0 TRAM1L1 133022 broad.mit.edu 37 4 118005585 118005585 + Missense_Mutation SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr4:118005585C>T uc003ibv.4 - 0 1152 c.965G>A c.(964-966)aGg>aAg p.R322K NM_152402 NP_689615 Q8N609 TR1L1_HUMAN Homo sapiens translocation associated membrane protein 1-like 1 (TRAM1L1), mRNA. 322 TLC. protein transport|transmembrane transport endoplasmic reticulum membrane|integral to membrane central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 22 TTCTACCCACCTCTGAAGCCA 0.413000 139 6 0 0 0.003080 0 0 OR52I1 390037 broad.mit.edu 37 11 4615434 4615434 + Missense_Mutation SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr11:4615434G>A uc010qyi.2 + 0 166 c.166G>A c.(166-168)Gat>Aat p.D56N NM_001005169 NP_001005169 Q8NGK6 O52I1_HUMAN Homo sapiens olfactory receptor, family 52, subfamily I, member 1 (OR52I1), mRNA. 56 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1) 15 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) AATCTGGATGGATTCCACTCG 0.502000 134 7 0 0 0.001984 0 0 ACACA 31 broad.mit.edu 37 17 35601576 35601576 + Silent SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr17:35601576G>A uc002hnm.3 - 20 2750 c.2559C>T c.(2557-2559)ttC>ttT p.F853F ACACA_uc002hnk.3_Silent_p.F775F|ACACA_uc002hnl.3_Silent_p.F795F|ACACA_uc002hnn.3_Silent_p.F853F|ACACA_uc002hno.3_Silent_p.F890F|ACACA_uc010cuz.3_Silent_p.F853F NM_198836 NP_942135 Q13085 ACACA_HUMAN Homo sapiens acetyl-CoA carboxylase alpha (ACACA), transcript variant 3, mRNA. 853 acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process cytosol ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 83 Breast(25;0.00157)|Ovarian(249;0.15) Biotin(DB00121) GGACATAATGGAACACTCGAT 0.488000 78 6 0 0 0.021553 0 0 PROKR2 128674 broad.mit.edu 37 20 5282926 5282926 + Silent SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr20:5282926G>A uc010zqw.2 - 1 923 c.915C>T c.(913-915)ttC>ttT p.F305F PROKR2_uc010zqx.2_Silent_p.F305F|PROKR2_uc010zqy.2_Silent_p.F305F NM_144773 NP_658986 Q8NFJ6 PKR2_HUMAN Homo sapiens prokineticin receptor 2 (PROKR2), mRNA. 305 integral to membrane|plasma membrane neuropeptide Y receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 53 TTTCCTTCACGAACACAGTGG 0.537000 HNSCC(71;0.22) 58 5 0 0 0.014758 0 0 KCNH5 27133 broad.mit.edu 37 14 63174717 63174717 + Missense_Mutation SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr14:63174717C>T uc001xfx.3 - 10 2527 c.2476G>A c.(2476-2478)Gaa>Aaa p.E826K KCNH5_uc001xfy.3_3'UTR NM_139318 NP_647479 Q8NCM2 KCNH5_HUMAN Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA. 826 regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2) 99 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) TTCCAGTCTTCCTTTTTCTCC 0.433000 91 8 0 0 0.004482 0 0 KRTAP3-2 83897 broad.mit.edu 37 17 39155950 39155950 + Silent SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr17:39155950G>A uc002hvs.3 - 0 189 c.156C>T c.(154-156)ccC>ccT p.P52P NM_031959 NP_114165 Q9BYR7 KRA32_HUMAN Homo sapiens keratin associated protein 3-2 (KRTAP3-2), mRNA. 52 3 X 5 AA repeats of C-C-X(3). keratin filament structural molecule activity endometrium(1)|large_intestine(1)|lung(1) 3 Breast(137;0.00043) GGCAGGGTGGGGGACAGTTGT 0.617000 63 4 0 0 0.014758 0 0 GIMAP8 155038 broad.mit.edu 37 7 150163851 150163851 + Missense_Mutation SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr7:150163851G>A uc003whj.3 + 1 395 c.65G>A c.(64-66)gGa>gAa p.G22E NM_175571 NP_783161 Q8ND71 GIMA8_HUMAN Homo sapiens GTPase, IMAP family member 8 (GIMAP8), mRNA. 22 Golgi apparatus|endoplasmic reticulum|mitochondrion GTP binding p.G22G(1) breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.17) TGCCGCTCGGGAAAAAGTGCC 0.527000 49 4 0 0 0.009096 0 0 OR1L8 138881 broad.mit.edu 37 9 125330478 125330478 + Silent SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr9:125330478G>A uc004bmp.1 - 0 279 c.279C>T c.(277-279)atC>atT p.I93I NM_001004454 NP_001004454 Q8NGR8 OR1L8_HUMAN Homo sapiens olfactory receptor, family 1, subfamily L, member 8 (OR1L8), mRNA. 93 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 CAGCATAGGAGATGGTCTTCT 0.463000 78 8 0 0 0.003080 0 0 TCRVA15 0 broad.mit.edu 37 14 22205027 22205027 + Missense_Mutation SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr14:22205027G>A uc001wbp.2 + 1 140 c.91G>A c.(91-93)Gaa>Aaa p.E31K TRA_uc021rpa.1_Intron|TCRVA15_uc010aip.1_Intron|TCRVA15_uc021rpc.1_Non-coding_Transcript SubName: Full=Tcell alpha chain; Flags: Fragment; GGACTCATATGAAGGACAAGA 0.443000 81 7 0 0 0.003080 0 0 HSPA1L 3305 broad.mit.edu 37 6 31778018 31778018 + Missense_Mutation SNP C T T rs139052456 TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr6:31778018C>T uc003nxh.3 - 1 1915 c.1732G>A c.(1732-1734)Gag>Aag p.E578K HSPA1L_uc010jte.3_Missense_Mutation_p.E578K|HSPA1L_uc021yuz.1_Missense_Mutation_p.E578K NM_005527 NP_005518 P34931 HS71L_HUMAN Homo sapiens heat shock 70kDa protein 1-like (HSPA1L), mRNA. 578 response to unfolded protein ATP binding breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 34 GAAAGGAGCTCGTTGCATTTA 0.383000 713 23 0 0 0.016522 0 0 STK31 56164 broad.mit.edu 37 7 23793998 23793998 + Missense_Mutation SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr7:23793998G>A uc003sws.4 + 9 1265 c.1198G>A c.(1198-1200)Ggg>Agg p.G400R STK31_uc003swt.4_Missense_Mutation_p.G377R|STK31_uc011jze.2_Missense_Mutation_p.G400R|STK31_uc010kuq.3_Missense_Mutation_p.G377R NM_031414 NP_116562 Q9BXU1 STK31_HUMAN Homo sapiens serine/threonine kinase 31 (STK31), transcript variant 1, mRNA. 400 ATP binding|nucleic acid binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 GTTGGATGAAGGGTGCTTTAC 0.373000 83 6 0 0 0.001984 0 0 ODZ1 10178 broad.mit.edu 37 X 123805562 123805562 + Missense_Mutation SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chrX:123805562C>T uc010nqy.3 - 5 1203 c.1139G>A c.(1138-1140)gGa>gAa p.G380E ODZ1_uc011muj.2_Missense_Mutation_p.G379E|ODZ1_uc004euj.3_Missense_Mutation_p.G380E NM_001163278 NP_001156750 Q9UKZ4 TEN1_HUMAN Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA. 380 immune response|negative regulation of cell proliferation|nervous system development|signal transduction extracellular region heparin binding NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 212 AGAAACTTTTCCTCCAATTGG 0.403000 61 4 0 0 0.009096 0 0 PMEL 6490 broad.mit.edu 37 12 56349077 56349077 + Missense_Mutation SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr12:56349077G>A uc001sir.3 - 9 2494 c.1831C>T c.(1831-1833)Ctt>Ttt p.L611F PMEL_uc001siq.3_Missense_Mutation_p.L618F|PMEL_uc010spx.2_Missense_Mutation_p.L525F|PMEL_uc001sip.3_Missense_Mutation_p.L611F NM_006928 NP_008859 P40967 PMEL_HUMAN Homo sapiens premelanosome protein (PMEL), transcript variant 3, mRNA. 611 melanin biosynthetic process|melanosome organization Golgi apparatus|endoplasmic reticulum membrane|extracellular region|integral to membrane|melanosome|multivesicular body membrane|plasma membrane protein binding NS(1)|breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 AGAGATGCAAGGACCACAGCC 0.512000 148 6 0 0 0.004482 0 0 GPR126 57211 broad.mit.edu 37 6 142711423 142711423 + Silent SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr6:142711423G>A uc010khe.3 + 6 1662 c.1251G>A c.(1249-1251)gtG>gtA p.V417V GPR126_uc010khc.3_Silent_p.V417V|GPR126_uc010khd.3_Silent_p.V389V|GPR126_uc010khf.3_Silent_p.V389V NM_198569 NP_940971 Q86SQ4 GP126_HUMAN Homo sapiens G protein-coupled receptor 126 (GPR126), transcript variant b1, mRNA. 417 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 36 Breast(32;0.176) OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121) TATCCGTAGTGATTCAGAACA 0.308000 78 5 0 0 0.001984 0 0 ZSWIM2 151112 broad.mit.edu 37 2 187703701 187703701 + Missense_Mutation SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr2:187703701G>A uc002upu.1 - 3 519 c.479C>T c.(478-480)cCt>cTt p.P160L NM_182521 NP_872327 Q8NEG5 ZSWM2_HUMAN Homo sapiens zinc finger, SWIM-type containing 2 (ZSWIM2), mRNA. 160 apoptosis zinc ion binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1) 52 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164) AAAGGTGACAGGAAGCTTTTT 0.308000 152 7 0 0 0.001984 0 0 FAM5B 57795 broad.mit.edu 37 1 177247706 177247706 + Silent SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr1:177247706C>T uc001glf.3 + 6 1332 c.1020C>T c.(1018-1020)ttC>ttT p.F340F FAM5B_uc010pna.1_Silent_p.F90F|FAM5B_uc001glg.3_Silent_p.F235F NM_021165 NP_066988 Q9C0B6 FAM5B_HUMAN Homo sapiens family with sequence similarity 5, member B (FAM5B), mRNA. 340 extracellular region breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 94 CAGAAGAGTTCCAGGCCCTGC 0.587000 203 7 0 0 0.004482 0 0 SYNE1 23345 broad.mit.edu 37 6 152949425 152949425 + Silent SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr6:152949425G>A uc021zhb.1 - 0 265 c.42C>T c.(40-42)atC>atT p.I14I SYNE1_uc003qot.4_Silent_p.I14I|SYNE1_uc003qou.4_Silent_p.I14I|SYNE1_uc010kjb.1_Silent_p.I14I|SYNE1_uc003qpa.1_Silent_p.I14I NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA. 14 Actin-binding. Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TCACATTGGCGATATCCCGAG 0.502000 HNSCC(10;0.0054) 131 8 0 0 0.006214 0 0 GRIN2A 2903 broad.mit.edu 37 16 9862744 9862744 + Silent SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr16:9862744G>A uc010uym.2 - 12 2869 c.2559C>T c.(2557-2559)tgC>tgT p.C853C GRIN2A_uc002czo.4_Silent_p.C853C|GRIN2A_uc010uyn.2_Silent_p.C696C|GRIN2A_uc002czr.4_Silent_p.C853C NM_000833 NP_001127879 Q12879 NMDE1_HUMAN Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA. 853 response to ethanol N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) GCCGGTCGGAGCACACGCCCG 0.557000 114 6 0 0 0.001984 0 0 NCKAP1L 3071 broad.mit.edu 37 12 54936426 54936426 + Missense_Mutation SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr12:54936426G>A uc001sgc.4 + 30 3420 c.3341G>A c.(3340-3342)cGa>cAa p.R1114Q NCKAP1L_uc010sox.2_Missense_Mutation_p.R656Q|NCKAP1L_uc010soy.2_Missense_Mutation_p.R1064Q NM_005337 NP_005328 P55160 NCKPL_HUMAN Homo sapiens NCK-associated protein 1-like (NCKAP1L), transcript variant 1, mRNA. 1114 B cell homeostasis|B cell receptor signaling pathway|T cell homeostasis|actin polymerization-dependent cell motility|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of T cell proliferation|positive regulation of actin filament polymerization|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|protein complex assembly|response to drug SCAR complex|cytosol|integral to plasma membrane|membrane fraction Rac GTPase activator activity|protein complex binding|protein kinase activator activity p.R1114Q(2) NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2) 80 GTCCTGCTTCGAAATGCCTAT 0.537000 117 9 0 0 0.008291 0 0 GUCY2F 2986 broad.mit.edu 37 X 108684589 108684589 + Silent SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chrX:108684589C>T uc022cch.1 - 5 1777 c.1692G>A c.(1690-1692)gcG>gcA p.A564A GUCY2F_uc011msq.2_Non-coding_Transcript|GUCY2F_uc004eod.4_Silent_p.A564A NM_001522 NP_001513 P51841 GUC2F_HUMAN Homo sapiens guanylate cyclase 2F, retinal (GUCY2F), mRNA. 564 Protein kinase. intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception integral to plasma membrane|nuclear outer membrane ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity p.A564A(2) breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1) 67 CCTCATAAATCGCTATGTTGG 0.403000 90 6 0 0 0.021553 0 0 HOXB1 3211 broad.mit.edu 37 17 46607131 46607131 + Silent SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr17:46607131C>T uc002ink.1 - 1 690 c.684G>A c.(682-684)ctG>ctA p.L228L HOXB1_uc021tzf.1_3'UTR NM_002144 NP_002135 P14653 HXB1_HUMAN Homo sapiens homeobox B1 (HOXB1), mRNA. 228 nucleus protein domain specific binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 GGGCCCGGCTCAGGTACTTGT 0.572000 200 8 0 0 0.003080 0 0 KBTBD8 84541 broad.mit.edu 37 3 67054691 67054691 + Missense_Mutation SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr3:67054691C>T uc003dmy.3 + 2 1353 c.1300C>T c.(1300-1302)Cat>Tat p.H434Y KBTBD8_uc011bfv.2_Intron NM_032505 NP_115894 Q8NFY9 KBTB8_HUMAN Homo sapiens kelch repeat and BTB (POZ) domain containing 8 (KBTBD8), mRNA. 434 breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1) 20 Lung NSC(201;0.0765) BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125) AATGGAATTTCATAATGCTGT 0.413000 114 7 0 0 0.001984 0 0 RELN 5649 broad.mit.edu 37 7 103163959 103163959 + Missense_Mutation SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr7:103163959G>A uc022ajr.1 - 46 7529 c.7369C>T c.(7369-7371)Cgt>Tgt p.R2457C RELN_uc022ajq.1_Missense_Mutation_p.R2457C|RELN_uc010liz.3_Missense_Mutation_p.R2457C NM_005045 NP_005036 P78509 RELN_HUMAN Homo sapiens reelin (RELN), transcript variant 1, mRNA. 2457 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) TGATGCCAACGGAAACGAGTG 0.453000 66 4 0 0 0.014758 0 0 TRANK1 9881 broad.mit.edu 37 3 36898710 36898710 + Missense_Mutation SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr3:36898710C>T uc003cgj.3 - 11 2619 c.2371G>A c.(2371-2373)Gag>Aag p.E791K NM_014831 NP_055646 O15050 TRNK1_HUMAN Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA. 791 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 CACTCGATCTCCCAGGTCATG 0.493000 249 12 0 0 0.013537 0 0 ZNF616 90317 broad.mit.edu 37 19 52619219 52619219 + Nonsense_Mutation SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr19:52619219G>A uc002pym.3 - 3 1481 c.1198C>T c.(1198-1200)Cga>Tga p.R400* ZNF616_uc002pyn.3_Non-coding_Transcript NM_178523 NP_848618 Q08AN1 ZN616_HUMAN Homo sapiens zinc finger protein 616 (ZNF616), mRNA. 400 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189) TGAATTCGTCGATGCACTGCA 0.418000 117 9 0 0 0.004482 0 0 THSD7B 80731 broad.mit.edu 37 2 137814587 137814587 + Missense_Mutation SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr2:137814587G>A uc002tva.1 + 1 644 c.644G>A c.(643-645)gGa>gAa p.G215E THSD7B_uc010zbj.1_Non-coding_Transcript|THSD7B_uc002tvb.3_Missense_Mutation_p.G105E NM_001080427 NP_001073896 Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA. p.G214C(1) NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) CTTAAGGTTGGACCATGGAGT 0.428000 159 6 0 0 0.021553 0 0 THADA 63892 broad.mit.edu 37 2 43520263 43520263 + Missense_Mutation SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr2:43520263G>A uc002rsw.4 - 31 4880 c.4528C>T c.(4528-4530)Cca>Tca p.P1510S THADA_uc010far.3_Missense_Mutation_p.P705S|THADA_uc002rsx.4_Missense_Mutation_p.P1510S|THADA_uc002rsy.4_Non-coding_Transcript NM_001083953 NP_071348 Q6YHU6 THADA_HUMAN Homo sapiens thyroid adenoma associated (THADA), transcript variant 3, mRNA. 1510 binding breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 66 Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837) GGCAGGCCTGGCACCTTGAAG 0.572000 525 16 0 0 0.007413 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140719940 140719940 + Missense_Mutation SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr5:140719940G>A uc003ljk.2 + 0 1587 c.1402G>A c.(1402-1404)Gga>Aga p.G468R PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc011dao.2_Missense_Mutation_p.G468R NM_018915 NP_061738 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily A, 2 (PCDHGA2), transcript variant 1, mRNA. 470 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAACCCCAGAGGAGCCTCTGT 0.557000 83 5 0 0 0.014758 0 0 GALNTL2 117248 broad.mit.edu 37 3 16237390 16237390 + Silent SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr3:16237390C>T uc003car.4 + 1 1138 c.663C>T c.(661-663)gcC>gcT p.A221A GALNTL2_uc003caq.4_5'UTR NM_054110 NP_473451 Q8N3T1 GLTL2_HUMAN Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 2 (GALNTL2), mRNA. 221 Catalytic subdomain A. Golgi membrane|integral to membrane|transport vesicle polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(2)|breast(3)|endometrium(4)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(1)|stomach(1) 33 TGCCCAGGGCCTTCCTGAAGG 0.617000 38 4 0 0 0.009096 0 0 PRDM16 63976 broad.mit.edu 37 1 3328862 3328862 + Missense_Mutation SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr1:3328862G>A uc001akf.3 + 8 2183 c.2101G>A c.(2101-2103)Gag>Aag p.E701K PRDM16_uc001ake.3_Missense_Mutation_p.E701K|PRDM16_uc009vlh.3_Missense_Mutation_p.E402K|PRDM16_uc001akc.3_Missense_Mutation_p.E701K NM_022114 NP_071397 Q9HAZ2 PRD16_HUMAN Homo sapiens PR domain containing 16 (PRDM16), transcript variant 1, mRNA. 701 Interaction with CTBP1 and CTBP2 (By similarity). brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent transcriptional repressor complex protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3) 59 all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111) all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134) Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137) ATCCATTGCCGAGAAGTACTT 0.622000 T EVI1 """MDS, AML""" 81 6 0 0 0.001984 0 0 ZNF287 57336 broad.mit.edu 37 17 16470880 16470880 + Missense_Mutation SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr17:16470880G>A uc021trd.1 - 1 784 c.166C>T c.(166-168)Cca>Tca p.P56S ZNF287_uc002gqi.2_Missense_Mutation_p.P56S NM_020653 NP_065704 Q9HBT7 ZN287_HUMAN Homo sapiens zinc finger protein 287 (ZNF287), mRNA. 49 SCAN box. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1) 20 UCEC - Uterine corpus endometrioid carcinoma (92;0.083) TCTGGGTATGGAAAATTCCTA 0.458000 72 5 0 0 0.021553 0 0 DNAH5 1767 broad.mit.edu 37 5 13793818 13793818 + Missense_Mutation SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr5:13793818C>T uc003jfd.2 - 48 8072 c.8030G>A c.(8029-8031)cGa>cAa p.R2677Q NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 2677 AAA 3 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) CATCAGCTGTCGCACTATCTC 0.438000 Kartagener syndrome 84 5 0 0 0.014758 0 0 ZC3H13 23091 broad.mit.edu 37 13 46559584 46559584 + Missense_Mutation SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr13:46559584G>A uc010tfw.1 - 8 1574 c.1568C>T c.(1567-1569)cCa>cTa p.P523L ZC3H13_uc001vas.1_Missense_Mutation_p.P523L|ZC3H13_uc001vat.1_Missense_Mutation_p.P523L NM_015070 NP_055885 Q5T200 ZC3HD_HUMAN Homo sapiens zinc finger CCCH-type containing 13 (ZC3H13), mRNA. 523 Arg/Ser-rich. nucleic acid binding|zinc ion binding cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 79 Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;4.18e-05) GGATTCTTCTGGATATGTATC 0.463000 84 5 0 0 0.021553 0 0 CCR4 1233 broad.mit.edu 37 3 32995532 32995532 + Silent SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr3:32995532C>T uc003cfg.1 + 1 786 c.618C>T c.(616-618)atC>atT p.I206I CCR4_uc021wuw.1_Silent_p.I206I NM_005508 NP_005499 P51679 CCR4_HUMAN Homo sapiens chemokine (C-C motif) receptor 4 (CCR4), mRNA. 206 chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response integral to plasma membrane NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1) 16 CCCTGGAAATCAACATTCTCG 0.453000 135 7 0 0 0.003080 0 0 DOT1L 84444 broad.mit.edu 37 19 2180750 2180750 + Silent SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr19:2180750C>T uc002lvb.4 + 1 156 c.120C>T c.(118-120)acC>acT p.T40T NM_032482 NP_115871 Q8TEK3 DOT1L_HUMAN Homo sapiens DOT1-like, histone H3 methyltransferase (S. cerevisiae) (DOT1L), mRNA. 40 nucleus DNA binding|histone-lysine N-methyltransferase activity|protein binding NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9) 42 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TCATCGAGACCATCCGGTGAG 0.562000 44 4 0 0 0.014758 0 0 CDC20 991 broad.mit.edu 37 1 43825722 43825722 + Silent SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr1:43825722C>T uc001cix.3 + 4 611 c.510C>T c.(508-510)tcC>tcT p.S170S CDC20_uc001ciy.3_Silent_p.S170S NM_001255 NP_001246 Q12834 CDC20_HUMAN Homo sapiens cell division cycle 20 homolog (S. cerevisiae) (CDC20), mRNA. 170 activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle cytosol|nucleoplasm|spindle enzyme binding|protein C-terminus binding endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1) 15 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) ACATTCCTTCCCTGCCAGACC 0.532000 199 9 0 0 0.016723 0 0 GLRB 2743 broad.mit.edu 37 4 158060056 158060056 + Missense_Mutation SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr4:158060056G>A uc003ipj.2 + 6 908 c.706G>A c.(706-708)Gaa>Aaa p.E236K GLRB_uc021xtp.1_Missense_Mutation_p.E236K|GLRB_uc021xtq.1_Missense_Mutation_p.E236K NM_000824 NP_001159532 P48167 GLRB_HUMAN Homo sapiens glycine receptor, beta (GLRB), transcript variant 1, mRNA. 236 nervous system development|neuropeptide signaling pathway|startle response cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|protein binding|receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1) 27 all_hematologic(180;0.24) Renal(120;0.0458) KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707) Glycine(DB00145) TATCAAAAAGGAAGATATTGA 0.299000 69 5 0 0 0.001984 0 0 DBC1 1620 broad.mit.edu 37 9 121929525 121929525 + Missense_Mutation SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr9:121929525G>A uc004bkc.2 - 7 2579 c.2123C>T c.(2122-2124)cCt>cTt p.P708L NM_014618 NP_055433 O60477 DBC1_HUMAN Homo sapiens deleted in bladder cancer 1 (DBC1), mRNA. 708 cell cycle arrest|cell death cytoplasm protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 GGCCACAGGAGGGGCCAGGCG 0.562000 100 5 0 0 0.014758 0 0 ATP9A 10079 broad.mit.edu 37 20 50342430 50342430 + Silent SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr20:50342430G>A uc002xwg.1 - 2 255 c.255C>T c.(253-255)ttC>ttT p.F85F ATP9A_uc010gih.1_Silent_p.F70F NM_006045 NP_006036 O75110 ATP9A_HUMAN Homo sapiens ATPase, class II, type 9A (ATP9A), mRNA. 85 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 CAAGAAGTAAGAAATAGAGGT 0.438000 61 6 0 0 0.001984 0 0 ZIM3 114026 broad.mit.edu 37 19 57648268 57648268 + Missense_Mutation SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr19:57648268C>T uc002qnz.1 - 3 600 c.214G>A c.(214-216)Gag>Aag p.E72K NM_052882 NP_443114 Q96PE6 ZIM3_HUMAN Homo sapiens zinc finger, imprinted 3 (ZIM3), mRNA. 72 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1) 52 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) AGCACTTCCTCTTCCTCCAAC 0.522000 87 5 0 0 0.014758 0 0 STK31 56164 broad.mit.edu 37 7 23808714 23808714 + Missense_Mutation SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr7:23808714G>A uc003sws.4 + 11 1584 c.1517G>A c.(1516-1518)aGa>aAa p.R506K STK31_uc003swt.4_Missense_Mutation_p.R483K|STK31_uc011jze.2_Missense_Mutation_p.R506K|STK31_uc010kuq.3_Missense_Mutation_p.R483K NM_031414 NP_116562 Q9BXU1 STK31_HUMAN Homo sapiens serine/threonine kinase 31 (STK31), transcript variant 1, mRNA. 506 ATP binding|nucleic acid binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 TGTGATAAAAGAGAGGAGTTC 0.403000 83 6 0 0 0.001984 0 0 FCHSD2 9873 broad.mit.edu 37 11 72600874 72600875 + Splice_Site DNP CC TT TT TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr11:72600874_72600875CC>TT uc009ytl.3 - 11 1262 c.1041_splice c.e11+1 p.R347_splice FCHSD2_uc010rrg.2_Splice_Site_p.R211_splice|FCHSD2_uc001oth.4_Splice_Site_p.R291_splice|FCHSD2_uc001oti.2_Splice_Site_p.R306_splice NM_014824 NP_055639 O94868 FCSD2_HUMAN Homo sapiens FCH and double SH3 domains 2 (FCHSD2), mRNA. 347 protein binding endometrium(2)|large_intestine(11)|lung(5)|ovary(2)|prostate(1)|skin(1) 22 BRCA - Breast invasive adenocarcinoma(5;3.3e-05) TTACACTTACCCGTTGTTGGTG 0.396000 376 11 0 0 0.004672 0 0 CHRNB4 1143 broad.mit.edu 37 15 78922021 78922021 + Missense_Mutation SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr15:78922021C>T uc002bed.1 - 4 738 c.626G>A c.(625-627)aGa>aAa p.R209K CHRNB4_uc002bee.1_Intron|CHRNB4_uc010blh.1_Missense_Mutation_p.R27K NM_000750 NP_000741 P30926 ACHB4_HUMAN Homo sapiens cholinergic receptor, nicotinic, beta 4 (CHRNB4), mRNA. 209 regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity endometrium(7)|kidney(1)|lung(13)|prostate(1) 22 CACTGTCCTTCTCCCTGGGAG 0.542000 117 5 0 0 0.021553 0 0 C12orf63 374467 broad.mit.edu 37 12 97158976 97158976 + Missense_Mutation SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr12:97158976C>T uc021rcc.1 + 26 3614 c.3536C>T c.(3535-3537)tCg>tTg p.S1179L Q6ZTY8 CL063_HUMAN RecName: Full=Putative uncharacterized protein C12orf63; 1179 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 CTTTTGTCTTCGTATACAGAT 0.289000 50 4 0 0 0.009096 0 0 PDE1A 5136 broad.mit.edu 37 2 183070702 183070702 + Missense_Mutation SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr2:183070702C>T uc002uos.3 - 8 999 c.915G>A c.(913-915)atG>atA p.M305I PDE1A_uc010zfp.1_Missense_Mutation_p.M201I|PDE1A_uc002uoq.1_Missense_Mutation_p.M305I|PDE1A_uc010zfq.1_Missense_Mutation_p.M305I|PDE1A_uc002uor.3_Missense_Mutation_p.M289I|PDE1A_uc002uou.3_Missense_Mutation_p.M271I NM_001003683 NP_001003683 P54750 PDE1A_HUMAN Homo sapiens phosphodiesterase 1A, calmodulin-dependent (PDE1A), transcript variant 2, mRNA. 305 Catalytic (By similarity). activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding p.M305I(3) endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2) 35 OV - Ovarian serous cystadenocarcinoma(117;0.061) TCAAGATATTCATTTCTTCTT 0.343000 23 4 0 0 0.009096 0 0 LAMA2 3908 broad.mit.edu 37 6 129636797 129636797 + Silent SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr6:129636797G>A uc021zfb.1 + 24 3837 c.3732G>A c.(3730-3732)aaG>aaA p.K1244K LAMA2_uc003qbn.3_Silent_p.K1244K|LAMA2_uc003qbo.3_Silent_p.K1244K NM_000426 NP_000417 P24043 LAMA2_HUMAN Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA. 1244 Laminin IV type A 2. 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) TTGAAGGAAAGAAGGTAAGCA 0.343000 54 4 0 0 0.009096 0 0 ABL2 27 broad.mit.edu 37 1 179078028 179078028 + Missense_Mutation SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr1:179078028G>A uc001gmj.4 - 11 2661 c.2374C>T c.(2374-2376)Cca>Tca p.P792S ABL2_uc010pnf.2_Missense_Mutation_p.P689S|ABL2_uc010png.2_Missense_Mutation_p.P668S|ABL2_uc010pnh.2_Missense_Mutation_p.P771S|ABL2_uc001gmg.4_Missense_Mutation_p.P674S|ABL2_uc001gmi.4_Missense_Mutation_p.P777S|ABL2_uc010pne.2_Missense_Mutation_p.P653S NM_007314 NP_009298 P42684 ABL2_HUMAN Homo sapiens v-abl Abelson murine leukemia viral oncogene homolog 2 (ABL2), transcript variant b, mRNA. 792 F-actin-binding (By similarity). axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction cytoskeleton|cytosol ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding p.D791fs*43(2)|p.D791G(1) breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 65 Adenosine triphosphate(DB00171)|Dasatinib(DB01254) TCCTGCTCTGGAAGCCCTGAG 0.517000 T ETV6 AML 111 16 0 0 0.004990 0 0 ACE 1636 broad.mit.edu 37 17 61560517 61560517 + Silent SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr17:61560517C>T uc002jau.2 + 8 1504 c.1470C>T c.(1468-1470)ttC>ttT p.F490F ACE_uc010wpi.2_Intron|ACE_uc010ddu.2_Silent_p.F307F|ACE_uc010wpj.2_5'Flank|ACE_uc010ddv.2_5'Flank|ACE_uc002jav.2_5'Flank|ACE_uc002jaw.2_5'Flank|ACE_uc010wpk.2_5'Flank NM_000789 NP_000780 P12821 ACE_HUMAN Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 (ACE), transcript variant 1, mRNA. 490 Peptidase M2 1. arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 51 Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519) GCTACAACTTCGACTGGTGGT 0.617000 196 12 0 0 0.020292 0 0 GCNT3 9245 broad.mit.edu 37 15 59911184 59911184 + Silent SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr15:59911184G>A uc002age.3 + 2 1196 c.747G>A c.(745-747)agG>agA p.R249R GCNT3_uc002agd.3_Silent_p.R249R|GCNT3_uc021smz.1_Silent_p.R249R NM_004751 NP_004742 O95395 GCNT3_HUMAN Homo sapiens glucosaminyl (N-acetyl) transferase 3, mucin type (GCNT3), mRNA. 249 protein O-linked glycosylation Golgi membrane|integral to membrane|membrane fraction N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 TGAATGGGAGGAATAGCATGG 0.458000 146 7 0 0 0.003080 0 0 OR52B2 255725 broad.mit.edu 37 11 6190586 6190586 + Splice_Site SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr11:6190586C>T uc010qzy.2 - 1 972 c.972_splice c.e1+1 p.*324_splice NM_001004052 NP_001004052 Q96RD2 O52B2_HUMAN Homo sapiens olfactory receptor, family 52, subfamily B, member 2 (OR52B2), mRNA. 0 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15) 21 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) CATGAAGATTCATGAGCCCAG 0.468000 69 6 0 0 0.021553 0 0 PRSS37 136242 broad.mit.edu 37 7 141537835 141537835 + Silent SNP G A A rs149011966 TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr7:141537835G>A uc003vws.2 - 2 627 c.255C>T c.(253-255)atC>atT p.I85I PRSS37_uc011krl.2_Silent_p.I85I|PRSS37_uc011krk.2_Silent_p.I72I|PRSS37_uc003vwt.2_Silent_p.I42I NM_001008270 NP_001008271 A4D1T9 PRS37_HUMAN Homo sapiens protease, serine, 37 (PRSS37), transcript variant 1, mRNA. 85 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity p.I85I(2) central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(3) 15 AGTAGCGGACGATCTGAATGG 0.507000 165 11 0 0 0.020292 0 0 SYT11 23208 broad.mit.edu 37 1 155851155 155851155 + Silent SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr1:155851155C>T uc001fmg.3 + 3 1445 c.1152C>T c.(1150-1152)ttC>ttT p.F384F SYT11_uc010pgq.2_Silent_p.F77F NM_152280 NP_689493 Q9BT88 SYT11_HUMAN Homo sapiens synaptotagmin XI (SYT11), mRNA. 384 C2 2. cell junction|synaptic vesicle membrane protein binding|transporter activity breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;0.000162) TTATCGACTTCGATCGCACCA 0.537000 270 16 0 0 0.024245 0 0 KLK12 43849 broad.mit.edu 37 19 51534106 51534106 + Missense_Mutation SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr19:51534106G>A uc002pvh.1 - 4 646 c.529C>T c.(529-531)Ccc>Tcc p.P177S KLK11_uc002pvb.2_5'Flank|KLK11_uc002pvf.1_5'Flank|KLK12_uc002pvg.1_Missense_Mutation_p.P177S|KLK12_uc010ycp.1_Non-coding_Transcript|KLK12_uc010ycq.1_Missense_Mutation_p.P67S|KLK12_uc010ycr.1_Missense_Mutation_p.P67S|KLK12_uc010ycs.1_Missense_Mutation_p.S90F|KLK12_uc002pvi.1_Missense_Mutation_p.P177S|KLK12_uc002pvj.1_Missense_Mutation_p.S90F NM_019598 NP_062544 Q9UKR0 KLK12_HUMAN Homo sapiens kallikrein-related peptidase 12 (KLK12), transcript variant 1, mRNA. 177 Peptidase S1. proteolysis extracellular region|soluble fraction serine-type endopeptidase activity endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1) 12 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00399) ATTCTCCCGGGATACACACCA 0.627000 154 7 0 0 0.006214 0 0 KCNA10 3744 broad.mit.edu 37 1 111059896 111059896 + Missense_Mutation SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr1:111059896G>A uc001dzt.1 - 0 1902 c.1514C>T c.(1513-1515)tCc>tTc p.S505F NM_005549 NP_005540 Q16322 KCA10_HUMAN Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 10 (KCNA10), mRNA. 505 voltage-gated potassium channel complex intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1) 35 all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301) Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134) CTTCTCTGTGGAACAGCCACC 0.478000 92 6 0 0 0.003080 0 0 NLRP4 147945 broad.mit.edu 37 19 56369305 56369305 + Silent SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr19:56369305C>T uc002qmd.4 + 2 968 c.546C>T c.(544-546)ttC>ttT p.F182F NLRP4_uc002qmf.3_Silent_p.F107F|NLRP4_uc010etf.3_Silent_p.F13F NM_134444 NP_604393 Q96MN2 NALP4_HUMAN Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA. 182 NACHT. ATP binding p.F182L(1) 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) GGGATAGGTTCCTGTACACGT 0.502000 123 9 0 0 0.006214 0 0 DNAH5 1767 broad.mit.edu 37 5 13928224 13928224 + Missense_Mutation SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr5:13928224C>T uc003jfd.2 - 2 298 c.256G>A c.(256-258)Gat>Aat p.D86N DNAH5_uc003jfe.1_Non-coding_Transcript NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 86 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) TCCTCCACATCTTGATAGTAA 0.363000 Kartagener syndrome 51 4 0 0 0.014758 0 0 OR2B11 127623 broad.mit.edu 37 1 247614447 247614447 + Missense_Mutation SNP G A A rs113868131 TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr1:247614447G>A uc010pyx.2 - 0 838 c.838C>T c.(838-840)Ctc>Ttc p.L280F NM_001004492 NP_001004492 Q5JQS5 OR2BB_HUMAN Homo sapiens olfactory receptor, family 2, subfamily B, member 11 (OR2B11), mRNA. 280 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 60 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.241) OV - Ovarian serous cystadenocarcinoma(106;0.0188) GAATAGAAGAGAGAAATAAAT 0.493000 155 8 0 0 0.004482 0 0 ACTRT1 139741 broad.mit.edu 37 X 127185107 127185107 + Missense_Mutation SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chrX:127185107G>A uc004eum.3 - 0 1276 c.1079C>T c.(1078-1080)tCg>tTg p.S360L NM_138289 NP_612146 Q8TDG2 ACTT1_HUMAN Homo sapiens actin-related protein T1 (ACTRT1), mRNA. 360 cytoplasm|cytoskeleton breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3) 34 GAAGTCTGCCGAGGTGACCCA 0.463000 93 10 0 0 0.010729 0 0 CPB1 1360 broad.mit.edu 37 3 148563342 148563342 + Missense_Mutation SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr3:148563342C>T uc003ewl.3 + 8 933 c.910C>T c.(910-912)Cac>Tac p.H304Y NM_001871 NP_001862 P15086 CBPB1_HUMAN Homo sapiens carboxypeptidase B1 (tissue) (CPB1), mRNA. 304 proteolysis extracellular region metallocarboxypeptidase activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 38 LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115) TCTGACAATCCACTCGTACTC 0.448000 70 7 0 0 0.001984 0 0 EEF2K 29904 broad.mit.edu 37 16 22269896 22269896 + Missense_Mutation SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr16:22269896C>T uc002dki.3 + 9 1596 c.1111C>T c.(1111-1113)Ccc>Tcc p.P371S EEF2K_uc002dkh.3_Non-coding_Transcript NM_013302 NP_037434 O00418 EF2K_HUMAN Homo sapiens eukaryotic elongation factor-2 kinase (EEF2K), mRNA. 371 insulin receptor signaling pathway|translational elongation cytosol ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2) 29 GBM - Glioblastoma multiforme(48;0.0223) GAGCCGGCCACCCCTGCTCCG 0.557000 83 6 0 0 0.021553 0 0 APOBEC3F 200316 broad.mit.edu 37 22 39482342 39482342 + Missense_Mutation SNP T G G TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr22:39482342T>G uc021wpr.1 + 5 1087 c.794T>G c.(793-795)gTg>gGg p.V265G APOBEC3F_uc003awx.3_Missense_Mutation_p.V265G|APOBEC3F_uc003awy.3_Missense_Mutation_p.V198G NM_021822 NP_068594 Q9HC16 ABC3G_HUMAN Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G (APOBEC3G), mRNA. 265 DNA cytosine deamination|base conversion or substitution editing|innate immune response|interspecies interaction between organisms|negative regulation of retroviral genome replication|negative regulation of transposition|positive regulation of defense response to virus by host|response to virus|viral reproduction apolipoprotein B mRNA editing enzyme complex|cytosol|mitochondrion RNA binding|cytidine deaminase activity|dCTP deaminase activity|protein homodimerization activity|zinc ion binding breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|skin(2) 16 Melanoma(58;0.04) TTCCTGGACGTGATTCCCTTT 0.498000 84 5 0 0 0.021553 0 0 CC2D1A 54862 broad.mit.edu 37 19 14038819 14038819 + Silent SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr19:14038819C>T uc002mxo.2 + 22 2729 c.2430C>T c.(2428-2430)gaC>gaT p.D810D CC2D1A_uc002mxp.2_Silent_p.D810D|CC2D1A_uc010dzh.2_Silent_p.D379D NM_017721 NP_060191 Q6P1N0 C2D1A_HUMAN Homo sapiens coiled-coil and C2 domain containing 1A (CC2D1A), mRNA. 810 positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus|plasma membrane DNA binding|signal transducer activity NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2) 27 OV - Ovarian serous cystadenocarcinoma(19;3.49e-23) TGGTCATTGACCCTGTGCCGG 0.657000 117 5 0 0 0.014758 0 0 C6orf201 404220 broad.mit.edu 37 6 4099407 4099407 + Missense_Mutation SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr6:4099407C>T uc003mwa.4 + 2 1027 c.259C>T c.(259-261)Cct>Tct p.P87S C6orf201_uc003mvz.4_Non-coding_Transcript|C6orf201_uc011dhw.1_Missense_Mutation_p.P87S|C6orf201_uc003mwb.4_Non-coding_Transcript NM_001085401 NP_001078870 Q7Z4U5 CF201_HUMAN Homo sapiens chromosome 6 open reading frame 201 (C6orf201), mRNA. 87 central_nervous_system(1)|endometrium(3)|lung(2) 6 Ovarian(93;0.0925) all_hematologic(90;0.0895) CACGAAAGAGCCTCCAATGTC 0.413000 29 4 0 0 0.021553 0 0 VN1R5 317705 broad.mit.edu 37 1 247419559 247419559 + Silent SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr1:247419559C>T uc010pyu.2 + 1 183 c.183C>T c.(181-183)atC>atT p.I61I NM_173858 NP_776257 Q7Z5H4 VN1R5_HUMAN Homo sapiens vomeronasal 1 receptor 5 (gene/pseudogene) (VN1R5), mRNA. 62 response to pheromone integral to membrane|plasma membrane pheromone receptor activity all_cancers(71;5.7e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661) all_cancers(173;0.0314) OV - Ovarian serous cystadenocarcinoma(106;0.00854) CAAACACCATCCTTCTTCTTT 0.373000 171 8 0 0 0.003080 0 0 SV2B 9899 broad.mit.edu 37 15 91835678 91835678 + Missense_Mutation SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr15:91835678G>A uc002bqv.3 + 13 2839 c.1948G>A c.(1948-1950)Ggg>Agg p.G650R SV2B_uc002bqu.4_Non-coding_Transcript|SV2B_uc010uqv.2_Missense_Mutation_p.G499R NM_014848 NP_055663 Q7L1I2 SV2B_HUMAN Homo sapiens synaptic vesicle glycoprotein 2B (SV2B), transcript variant 1, mRNA. 650 neurotransmitter transport acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane transmembrane transporter activity NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 42 Lung NSC(78;0.0987)|all_lung(78;0.172) BRCA - Breast invasive adenocarcinoma(143;0.0895) TTCTTTTGTTGGGATAACCAA 0.498000 616 39 0 0 0.009718 0 0 CLEC14A 161198 broad.mit.edu 37 14 38724435 38724435 + Missense_Mutation SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr14:38724435C>T uc001wum.1 - 0 1140 c.793G>A c.(793-795)Gac>Aac p.D265N NM_175060 NP_778230 Q86T13 CLC14_HUMAN Homo sapiens C-type lectin domain family 14, member A (CLEC14A), mRNA. 265 EGF-like. integral to membrane sugar binding p.D265E(1) breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 Hepatocellular(127;0.213)|Esophageal squamous(585;0.22) Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187) GBM - Glioblastoma multiforme(112;0.00439) CCTCCCAAGTCGTCTAGGCAG 0.642000 128 9 0 0 0.008291 0 0 GBF1 8729 broad.mit.edu 37 10 104120832 104120832 + Silent SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr10:104120832C>T uc001kux.2 + 12 1737 c.1443C>T c.(1441-1443)ttC>ttT p.F481F GBF1_uc001kuy.2_Silent_p.F481F|GBF1_uc001kuz.2_Silent_p.F482F NM_004193 NP_004184 Q92538 GBF1_HUMAN Homo sapiens golgi brefeldin A resistant guanine nucleotide exchange factor 1 (GBF1), transcript variant 1, mRNA. 481 COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane ARF guanyl-nucleotide exchange factor activity|protein binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 71 Colorectal(252;0.0236) Epithelial(162;5.16e-08)|all cancers(201;1.19e-06) GAGTATGCTTCCTACTGTTTG 0.428000 108 8 0 0 0.004482 0 0 UGT1A1 54658 broad.mit.edu 37 2 234581193 234581193 + Missense_Mutation SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr2:234581193G>A uc002vus.3 + 0 650 c.613G>A c.(613-615)Gag>Aag p.E205K UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Missense_Mutation_p.E205K NM_021027 NP_066307 P22309 UD11_HUMAN Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A9 (UGT1A9), mRNA. 208 bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process endoplasmic reticulum membrane|microsome enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2) 30 Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128) Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054) Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197) GACTTTCAAGGAGAGAGTACG 0.438000 223 7 0 0 0.003080 0 0 MAP3K15 389840 broad.mit.edu 37 X 19389542 19389542 + Missense_Mutation SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chrX:19389542G>A uc022btq.1 - 22 3215 c.3215C>T c.(3214-3216)tCa>tTa p.S1072L MAP3K15_uc004czj.2_Missense_Mutation_p.S507L|MAP3K15_uc004czk.2_Missense_Mutation_p.S547L|MAP3K15_uc004czi.2_Missense_Mutation_p.S6L NM_001001671 NP_001001671 Q6ZN16 M3K15_HUMAN Homo sapiens mitogen-activated protein kinase kinase kinase 15 (MAP3K15), mRNA. 1072 ATP binding|MAP kinase kinase kinase activity|metal ion binding p.S547*(1)|p.S1119*(1) NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 42 Hepatocellular(33;0.183) CTTGAGCTTTGATATTGTGGT 0.527000 45 5 0 0 0.021553 0 0 NOTCH2 4853 broad.mit.edu 37 1 120458308 120458308 + Missense_Mutation SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr1:120458308G>A uc001eik.3 - 33 7334 c.7037C>T c.(7036-7038)gCc>gTc p.A2346V NM_024408 NP_077719 Q04721 NOTC2_HUMAN Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA. 2346 Notch receptor processing|Notch signaling pathway|anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 158 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) GGGCAAACGGGCCATTTCTGG 0.627000 """N, F, Mis""" """marginal zone lymphoma, DLBCL""" Alagille Syndrome 523 20 0 0 0.010504 0 0 NOTCH2 4853 broad.mit.edu 37 1 120469125 120469125 + Silent SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr1:120469125G>A uc001eik.3 - 23 4299 c.4002C>T c.(4000-4002)ccC>ccT p.P1334P NM_024408 NP_077719 Q04721 NOTC2_HUMAN Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA. 1334 EGF-like 34. Notch receptor processing|Notch signaling pathway|anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 158 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) CACTTACCGGGGGACAACGGC 0.488000 """N, F, Mis""" """marginal zone lymphoma, DLBCL""" Alagille Syndrome 235 7 0 0 0.001984 0 0 C1orf111 284680 broad.mit.edu 37 1 162344380 162344380 + Missense_Mutation SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr1:162344380C>T uc001gbx.2 - 2 308 c.244G>A c.(244-246)Gga>Aga p.G82R NM_182581 NP_872387 Q5T0L3 CA111_HUMAN Homo sapiens chromosome 1 open reading frame 111 (C1orf111), mRNA. 82 p.G82R(2) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1) 11 all_hematologic(112;0.15) BRCA - Breast invasive adenocarcinoma(70;0.0938) AGCTTCTCTCCGTGCTGGGTA 0.572000 121 5 0 0 0.014758 0 0 MFSD6 54842 broad.mit.edu 37 2 191301840 191301840 + Missense_Mutation SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr2:191301840C>T uc002urz.2 + 2 1409 c.1085C>T c.(1084-1086)cCc>cTc p.P362L NM_017694 NP_060164 Q6ZSS7 MFSD6_HUMAN Homo sapiens major facilitator superfamily domain containing 6 (MFSD6), mRNA. 362 transmembrane transport integral to membrane breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1) 23 GGGTGTAAGCCCCCCGAGTAC 0.572000 32 4 0 0 0.009096 0 0 CYP4F12 66002 broad.mit.edu 37 19 15791310 15791310 + Missense_Mutation SNP A G G TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr19:15791310A>G uc002nbl.3 + 4 625 c.506A>G c.(505-507)aAg>aGg p.K169R CYP4F12_uc010xoo.2_Missense_Mutation_p.K169R|CYP4F12_uc010xop.2_3'UTR NM_023944 NP_076433 Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 12 (CYP4F12), mRNA. NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 41 Acute lymphoblastic leukemia(2;0.0367) ATCTTCAACAAGAGTGCAAAC 0.527000 50 5 0 0 0.014758 0 0 COL14A1 7373 broad.mit.edu 37 8 121381652 121381652 + Missense_Mutation SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr8:121381652C>T uc003yox.3 + 46 5504 c.5239C>T c.(5239-5241)Cct>Tct p.P1747S COL14A1_uc003yoz.3_Missense_Mutation_p.P712S NM_021110 NP_066933 Q05707 COEA1_HUMAN Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA. 1747 Triple-helical region 2 (COL1). cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging p.P1747S(2) NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 119 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) TCTGGGGGTTCCTGGACCCCA 0.597000 75 7 0 0 0.001984 0 0 GH1 2688 broad.mit.edu 37 17 61995475 61995475 + Missense_Mutation SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr17:61995475C>T uc002jdj.3 - 2 255 c.193G>A c.(193-195)Gaa>Aaa p.E65K GH1_uc002jdi.3_Intron|GH1_uc002jdk.3_Intron|GH1_uc002jdl.3_Intron|GH1_uc002jdm.3_Intron|GH1_uc002jdn.3_Missense_Mutation_p.E65K NM_000515 NP_000506 P01241 SOMA_HUMAN Homo sapiens growth hormone 1 (GH1), transcript variant 1, mRNA. 65 JAK-STAT cascade|glucose transport|growth hormone receptor signaling pathway|positive regulation of MAP kinase activity|positive regulation of activation of JAK2 kinase activity|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|response to estradiol stimulus extracellular space growth factor activity|growth hormone receptor binding|hormone activity|metal ion binding|prolactin receptor binding breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10) 19 TACTTCTGTTCCTTTGGGATA 0.512000 173 7 0 0 0.003080 0 0 ZNF180 7733 broad.mit.edu 37 19 44980972 44980972 + Missense_Mutation SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr19:44980972G>A uc002ozf.4 - 4 2008 c.1726C>T c.(1726-1728)Ccg>Tcg p.P576S ZNF180_uc002ozh.4_Missense_Mutation_p.P233S|ZNF180_uc002ozi.4_Missense_Mutation_p.P549S|ZNF180_uc002ozg.4_Missense_Mutation_p.P575S|ZNF180_uc010ejm.3_Missense_Mutation_p.P551S NM_013256 NP_037388 Q9UJW8 ZN180_HUMAN Homo sapiens zinc finger protein 180 (ZNF180), mRNA. 576 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.P576L(1) NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1) 33 Prostate(69;0.0435) CATTCATACGGTTTTTCCCCA 0.408000 68 6 0 0 0.021553 0 0 ANKRD20A5P 440482 broad.mit.edu 37 18 14184029 14184029 + Silent SNP T C C TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr18:14184029T>C uc010xag.2 + 2 718 c.420T>C c.(418-420)gcT>gcC p.A140A ANKRD20A5P_uc002ksw.2_Non-coding_Transcript|ANKRD20A5P_uc002ksv.2_Missense_Mutation_p.L19P Homo sapiens ankyrin repeat domain 20 family, member A5, pseudogene (ANKRD20A5P), non-coding RNA. lung(3) 3 TCCATTATGCTGTGTATAGTG 0.438000 190 6 0 0 0.004482 0 0 C7orf62 219557 broad.mit.edu 37 7 88424246 88424246 + Missense_Mutation SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr7:88424246G>A uc003ujv.3 - 1 193 c.11C>T c.(10-12)tCg>tTg p.S4L ZNF804B_uc011khi.2_Intron|C7orf62_uc022ahc.1_Missense_Mutation_p.S4L NM_152706 NP_689919 Q8TBZ9 CG062_HUMAN Homo sapiens chromosome 7 open reading frame 62 (C7orf62), mRNA. 4 NS(1)|breast(1)|endometrium(3)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 30 GTTATGGACCGAAAAGGACAT 0.418000 99 6 0 0 0.021553 0 0 C3 718 broad.mit.edu 37 19 6696669 6696669 + Splice_Site SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr19:6696669G>A uc002mfm.3 - 22 2859 c.2797_splice c.e22-1 p.P933_splice NM_000064 NP_000055 P01024 CO3_HUMAN Homo sapiens complement component 3 (C3), mRNA. 933 G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3) 72 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) GATTCCTTCCGGCTACGCAGT 0.572000 172 7 0 0 0.003080 0 0 SLCO3A1 28232 broad.mit.edu 37 15 92663826 92663826 + Missense_Mutation SNP A G G TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr15:92663826A>G uc002bqx.2 + 4 1342 c.1141A>G c.(1141-1143)Aac>Gac p.N381D SLCO3A1_uc002bqy.2_Missense_Mutation_p.N381D|SLCO3A1_uc010boc.1_Non-coding_Transcript|SLCO3A1_uc002bqz.1_Missense_Mutation_p.N323D NM_013272 NP_037404 Q9UIG8 SO3A1_HUMAN Homo sapiens solute carrier organic anion transporter family, member 3A1 (SLCO3A1), transcript variant 1, mRNA. 381 sodium-independent organic anion transport integral to membrane|plasma membrane sodium-independent organic anion transmembrane transporter activity p.F380C(1) breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2) 25 Lung NSC(78;0.0158)|all_lung(78;0.0255) BRCA - Breast invasive adenocarcinoma(143;0.0841) GCAGCAGTTTAACCTCACCAC 0.562000 198 8 0 0 0.003080 0 0 DCLK3 85443 broad.mit.edu 37 3 36779592 36779592 + Missense_Mutation SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr3:36779592G>A uc003cgi.2 - 1 1050 c.559C>T c.(559-561)Ccc>Tcc p.P187S NM_033403 NP_208382 Q9C098 DCLK3_HUMAN Homo sapiens doublecortin-like kinase 3 (DCLK3), mRNA. 187 cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 48 TTTGCCTCGGGAGACCTCCTG 0.592000 80 5 0 0 0.014758 0 0 MDN1 23195 broad.mit.edu 37 6 90372576 90372576 + Missense_Mutation SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr6:90372576C>T uc003pnn.1 - 85 14463 c.14347G>A c.(14347-14349)Gat>Aat p.D4783N NM_014611 NP_055426 Q9NU22 MDN1_HUMAN Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA. 4783 D -> E (in dbSNP:rs36040566). protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 218 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) tcctcctcatcATCATCACCC 0.458000 133 7 0 0 0.001984 0 0 C15orf2 23742 broad.mit.edu 37 15 24924106 24924106 + Missense_Mutation SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr15:24924106C>T uc001ywo.3 + 0 3566 c.3092C>T c.(3091-3093)tCc>tTc p.S1031F NM_018958 NP_061831 Q9NZP6 CO002_HUMAN Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA. 1031 cell differentiation|multicellular organismal development|spermatogenesis NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8) 140 all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086) all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229) GGCCCCAGTTCCACATCAGGA 0.547000 44 5 0 0 0.014758 0 0 FILIP1 27145 broad.mit.edu 37 6 76023417 76023417 + Missense_Mutation SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr6:76023417G>A uc010kbe.3 - 5 2670 c.2140C>T c.(2140-2142)Cgg>Tgg p.R714W FILIP1_uc003phy.1_Missense_Mutation_p.R711W|FILIP1_uc003phz.3_Missense_Mutation_p.R612W|FILIP1_uc003pia.3_Missense_Mutation_p.R711W|FILIP1_uc003pib.1_Missense_Mutation_p.R463W NM_015687 NP_056502 Q7Z7B0 FLIP1_HUMAN Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA. 711 p.R711W(1) breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4) 80 TCTTCCAACCGAAATCTGTGT 0.413000 178 9 0 0 0.006214 0 0 RFX7 64864 broad.mit.edu 37 15 56386321 56386321 + Missense_Mutation SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr15:56386321G>A uc010bfn.3 - 8 3605 c.3605C>T c.(3604-3606)cCa>cTa p.P1202L RFX7_uc010ugk.1_Non-coding_Transcript|RFX7_uc002adn.1_Missense_Mutation_p.P1016L NM_022841 NP_073752 Q2KHR2 RFX7_HUMAN Homo sapiens regulatory factor X, 7 (RFX7), mRNA. 1105 regulation of transcription, DNA-dependent nucleus DNA binding central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 19 ATGAACTTCTGGGGTAACTGG 0.458000 137 5 0 0 0.014758 0 0 P4HB 5034 broad.mit.edu 37 17 79804386 79804386 + Silent SNP G C C TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr17:79804386G>C uc002kbn.1 - 6 1172 c.975C>G c.(973-975)acC>acG p.T325T P4HB_uc002kbl.1_Silent_p.T2T|P4HB_uc002kbm.1_Silent_p.T2T NM_000918 NP_000909 P07237 PDIA1_HUMAN Homo sapiens prolyl 4-hydroxylase, beta polypeptide (P4HB), mRNA. 325 cell redox homeostasis|glycerol ether metabolic process|lipid metabolic process|lipoprotein metabolic process|peptidyl-proline hydroxylation to 4-hydroxy-L-proline ER-Golgi intermediate compartment|cell surface|endoplasmic reticulum lumen|extracellular region|melanosome|plasma membrane electron carrier activity|procollagen-proline 4-dioxygenase activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity NS(1)|breast(1)|large_intestine(2)|lung(17)|urinary_tract(1) 22 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509) GCTTGTACTTGGTCATCTCCT 0.612000 87 5 0 0 0.014758 0 0 SHCBP1L 81626 broad.mit.edu 37 1 182874684 182874684 + Missense_Mutation SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr1:182874684C>T uc001gpu.3 - 6 1568 c.1283G>A c.(1282-1284)gGa>gAa p.G428E SHCBP1L_uc001gpv.3_Missense_Mutation_p.G309E|SHCBP1L_uc010pnz.2_Missense_Mutation_p.G286E|SHCBP1L_uc001gpw.3_Missense_Mutation_p.G148E NM_030933 NP_112195 Q9BZQ2 SHP1L_HUMAN Homo sapiens SHC SH2-domain binding protein 1-like (SHCBP1L), mRNA. 500 breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|pancreas(1)|prostate(1)|skin(2) 15 TTGATATTCTCCTGGAAAAAT 0.353000 44 4 0 0 0.009096 0 0 MDM4 4194 broad.mit.edu 37 1 204518492 204518492 + Silent SNP T A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr1:204518492T>A uc001hba.3 + 10 1321 c.1155T>A c.(1153-1155)ctT>ctA p.L385L MDM4_uc001hbd.2_Non-coding_Transcript|MDM4_uc010pqw.2_Non-coding_Transcript|MDM4_uc010pqx.2_Silent_p.L258L|MDM4_uc001hay.2_Silent_p.L335L|MDM4_uc021phx.1_Silent_p.L59L|MDM4_uc001hbb.3_Silent_p.L258L|MDM4_uc010pqy.2_Intron|MDM4_uc001hbc.3_Non-coding_Transcript|MDM4_uc009xbe.1_Non-coding_Transcript NM_002393 NP_002384 O15151 MDM4_HUMAN Homo sapiens Mdm4 p53 binding protein homolog (mouse) (MDM4), transcript variant 1, mRNA. 385 G0 to G1 transition|apoptosis|cell proliferation|cellular response to hypoxia|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of protein catabolic process|negative regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization nucleus enzyme binding|zinc ion binding central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 16 all_cancers(21;0.00146)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.112)|all_epithelial(62;0.118)|Prostate(682;0.227) GBM - Glioblastoma multiforme(2;3.15e-47)|all cancers(3;3.56e-32)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|Epithelial(59;0.143)|BRCA - Breast invasive adenocarcinoma(75;0.143) ACTCCAAACTTTTTGATCCCT 0.413000 A """GBM, bladder, retinoblastoma""" 93 5 0 0 0.021553 0 0 PDHA2 5161 broad.mit.edu 37 4 96761738 96761738 + Missense_Mutation SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr4:96761738G>A uc003htr.4 + 0 500 c.437G>A c.(436-438)gGa>gAa p.G146E NM_005390 NP_005381 P29803 ODPAT_HUMAN Homo sapiens pyruvate dehydrogenase (lipoamide) alpha 2 (PDHA2), mRNA. 146 glycolysis mitochondrial matrix pyruvate dehydrogenase (acetyl-transferring) activity p.G146E(2) NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 46 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;1.23e-06) NADH(DB00157) TGTGCTAAAGGAAAAGGAGGA 0.532000 60 4 0 0 0.009096 0 0 KRT1 3848 broad.mit.edu 37 12 53070226 53070226 + Silent SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr12:53070226G>A uc001sau.1 - 6 1367 c.1308C>T c.(1306-1308)gcC>gcT p.A436A KRT1_uc001sav.1_Silent_p.A436A NM_006121 NP_006112 P04264 K2C1_HUMAN Homo sapiens keratin 1 (KRT1), mRNA. 436 Coil 2.|Rod. complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress plasma membrane protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3) 39 CATCCTTGAGGGCATTCTCGC 0.542000 46 4 0 0 0.009096 0 0 APAF1 317 broad.mit.edu 37 12 99060130 99060130 + Missense_Mutation SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr12:99060130C>T uc001tfz.3 + 8 1934 c.1357C>T c.(1357-1359)Ctt>Ttt p.L453F APAF1_uc001tfy.3_Missense_Mutation_p.L442F|APAF1_uc001tga.3_Missense_Mutation_p.L442F|APAF1_uc001tgb.3_Missense_Mutation_p.L453F|APAF1_uc001tgc.3_Intron NM_181861 NP_863651 O14727 APAF_HUMAN Homo sapiens apoptotic peptidase activating factor 1 (APAF1), transcript variant 3, mRNA. 453 activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development Golgi apparatus|cytosol|nucleus ATP binding|caspase activator activity|protein binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1) 42 Adenosine triphosphate(DB00171) TTGCAGCCAGCTTCAGGTACT 0.294000 67 5 0 0 0.001984 0 0 TNXB 7148 broad.mit.edu 37 6 32029231 32029231 + Silent SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr6:32029231G>A uc003nzl.2 - 20 7637 c.7435C>T c.(7435-7437)Ctg>Ttg p.L2479L NM_019105 NP_061978 P22105 TENX_HUMAN Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA. 2539 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 AGGCCATACAGGTGCATCTTG 0.672000 383 16 0 0 0.004990 0 0 CHRM5 1133 broad.mit.edu 37 15 34356204 34356204 + Missense_Mutation SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr15:34356204G>A uc001zhk.1 + 2 1956 c.1286G>A c.(1285-1287)cGa>cAa p.R429Q CHRM5_uc001zhl.1_Missense_Mutation_p.R429Q|CHRM5_uc021sir.1_Missense_Mutation_p.R429Q NM_012125 NP_036257 P08912 ACM5_HUMAN Homo sapiens cholinergic receptor, muscarinic 5 (CHRM5), mRNA. 429 cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1) 20 all_lung(180;1.76e-08) all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262) Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372) ATGACCAAACGAAAGAGAGTG 0.522000 53 6 0 0 0.001984 0 0 KCNJ5 3762 broad.mit.edu 37 11 128781607 128781607 + Missense_Mutation SNP G A A rs148355179 TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr11:128781607G>A uc001qet.3 + 1 753 c.439G>A c.(439-441)Gaa>Aaa p.E147K KCNJ5_uc009zck.3_Missense_Mutation_p.E147K|KCNJ5_uc001qew.3_Missense_Mutation_p.E147K NM_000890 NP_000881 P48544 IRK5_HUMAN Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 5 (KCNJ5), mRNA. 147 synaptic transmission voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding p.E147K(2) NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 all_hematologic(175;0.0641) Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215) Glibenclamide(DB01016) CATTGAGACCGAAACAACCAT 0.527000 133 6 0 0 0.003080 0 0 THSD4 79875 broad.mit.edu 37 15 72021016 72021016 + Missense_Mutation SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr15:72021016G>A uc002atb.1 + 7 1565 c.1486G>A c.(1486-1488)Gag>Aag p.E496K THSD4_uc002atd.1_Missense_Mutation_p.E170K|THSD4_uc010ukg.1_Missense_Mutation_p.E136K|THSD4_uc002ate.2_Missense_Mutation_p.E136K NM_024817 NP_079093 Q6ZMP0 THSD4_HUMAN Homo sapiens thrombospondin, type I, domain containing 4 (THSD4), mRNA. 496 proteinaceous extracellular matrix metalloendopeptidase activity breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 CACTGCCGGAGAGTCCTTTTT 0.483000 171 8 0 0 0.004482 0 0 MOV10L1 54456 broad.mit.edu 37 22 50555645 50555645 + Missense_Mutation SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr22:50555645G>A uc003bjj.3 + 8 1402 c.1319G>A c.(1318-1320)cGa>cAa p.R440Q MOV10L1_uc003bjk.4_Missense_Mutation_p.R440Q|MOV10L1_uc011arp.2_Missense_Mutation_p.R420Q|MOV10L1_uc011arq.1_Missense_Mutation_p.R201Q|MOV10L1_uc010hao.1_Non-coding_Transcript NM_018995 NP_061868 Q9BXT6 M10L1_HUMAN Homo sapiens Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) (MOV10L1), transcript variant 1, mRNA. 440 germ cell development|multicellular organismal development|spermatogenesis ATP binding|ATP-dependent RNA helicase activity|RNA binding|magnesium ion binding p.R440Q(2) breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3) 67 all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114) LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24) CTAATTGGGCGATACCTTGAA 0.388000 59 4 0 0 0.014758 0 0 ARID1B 57492 broad.mit.edu 37 6 157522413 157522413 + Missense_Mutation SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr6:157522413C>T uc003qqp.3 + 16 4646 c.4646C>T c.(4645-4647)tCc>tTc p.S1549F ARID1B_uc003qqo.3_Missense_Mutation_p.S1562F|ARID1B_uc003qqn.3_Missense_Mutation_p.S1602F NM_017519 NP_059989 Q8NFD5 ARI1B_HUMAN Homo sapiens AT rich interactive domain 1B (SWI1-like) (ARID1B), transcript variant 1, mRNA. 1549 Pro-rich. chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent SWI/SNF complex DNA binding|protein binding|transcription coactivator activity p.R1548C(1)|p.R1548H(1) NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3) 81 Breast(66;0.000162)|Ovarian(120;0.0265) OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05) TTCCAGCGCTCCCTGGAGAAC 0.617000 121 5 0 0 0.014758 0 0 TJP3 27134 broad.mit.edu 37 19 3735929 3735929 + Missense_Mutation SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr19:3735929C>T uc010xhv.2 + 8 1222 c.1222C>T c.(1222-1224)Cgt>Tgt p.R408C TJP3_uc010xhs.2_Missense_Mutation_p.R375C|TJP3_uc010xht.2_Missense_Mutation_p.R339C|TJP3_uc010xhu.2_Missense_Mutation_p.R384C|TJP3_uc010xhw.2_Missense_Mutation_p.R394C NM_014428 NP_055243 O95049 ZO3_HUMAN Homo sapiens tight junction protein 3 (zona occludens 3) (TJP3), mRNA. 389 PDZ 3. tight junction protein binding p.R408H(1) breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 26 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18) CATGGAGGATCGTGGGTATGT 0.527000 93 5 0 0 0.021553 0 0 CCDC28A 25901 broad.mit.edu 37 6 139094833 139094833 + Missense_Mutation SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr6:139094833G>A uc003qie.3 + 0 177 c.22G>A c.(22-24)Gcg>Acg p.A8T LOC100507462_uc003qid.2_5'Flank NM_015439 NP_056254 Q8IWP9 CC28A_HUMAN Homo sapiens coiled-coil domain containing 28A (CCDC28A), mRNA. 8 autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1) 13 OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306) GGAGCCAAGAGCGACACTGGG 0.597000 128 5 0 0 0.021553 0 0 DBH 1621 broad.mit.edu 37 9 136508583 136508583 + Missense_Mutation SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr9:136508583G>A uc004cel.3 + 3 802 c.793G>A c.(793-795)Gaa>Aaa p.E265K NM_000787 NP_000778 P09172 DOPO_HUMAN Homo sapiens dopamine beta-hydroxylase (dopamine beta-monooxygenase) (DBH), mRNA. 265 hormone biosynthetic process chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane L-ascorbic acid binding|dopamine beta-monooxygenase activity central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 36 OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05) Dopamine(DB00988)|Vitamin C(DB00126) CCACCACATGGAAGTCTTCCA 0.657000 61 4 0 0 0.009096 0 0 TUSC3 7991 broad.mit.edu 37 8 15519760 15519760 + Silent SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr8:15519760C>T uc003wwt.3 + 4 1007 c.663C>T c.(661-663)aaC>aaT p.N221N TUSC3_uc003wwu.3_Silent_p.N221N NM_006765 NP_006756 Q13454 TUSC3_HUMAN Homo sapiens tumor suppressor candidate 3 (TUSC3), transcript variant 1, mRNA. 221 cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane|oligosaccharyltransferase complex breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2) 28 Colorectal(111;0.113) GAAGGAACAACTTGGAGTTCA 0.403000 111 6 0 0 0.001984 0 0 MFNG 4242 broad.mit.edu 37 22 37876307 37876307 + Missense_Mutation SNP G A A rs146256245 byFrequency TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr22:37876307G>A uc003ass.2 - 2 598 c.335C>T c.(334-336)gCg>gTg p.A112V MFNG_uc011anj.2_Missense_Mutation_p.A98V|MFNG_uc011ani.2_5'UTR|CARD10_uc003ast.1_Non-coding_Transcript NM_002405 NP_002396 O00587 MFNG_HUMAN Homo sapiens MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase (MFNG), transcript variant 1, mRNA. 112 pattern specification process extracellular space|integral to Golgi membrane O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity large_intestine(2)|lung(2)|skin(1) 5 Melanoma(58;0.0574) GCTGTGTTCCGCGGAGCAGTT 0.597000 49 10 0 0 0.008291 0 0 LUZP4 51213 broad.mit.edu 37 X 114541098 114541098 + Missense_Mutation SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chrX:114541098G>A uc004eqa.3 + 3 705 c.671G>A c.(670-672)aGa>aAa p.R224K LUZP4_uc004eqb.3_Missense_Mutation_p.R142K NM_016383 NP_057467 Q9P127 LUZP4_HUMAN Homo sapiens leucine zipper protein 4 (LUZP4), mRNA. 224 nucleus endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 14 CACTCAGAGAGATCTCATGGT 0.473000 59 6 0 0 0.001984 0 0 HNF1A 6927 broad.mit.edu 37 12 121431342 121431342 + Silent SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr12:121431342G>A uc001tzg.3 + 2 569 c.546G>A c.(544-546)caG>caA p.Q182Q HNF1A_uc021rex.1_Intron|HNF1A_uc021rey.1_Intron|HNF1A_uc021rez.1_Intron|HNF1A_uc001tze.2_Silent_p.Q182Q|HNF1A_uc001tzf.3_Silent_p.Q182Q|HNF1A_uc010szn.2_Silent_p.Q182Q|HNF1A_uc021rfa.1_Silent_p.Q182Q|HNF1A_uc021rfb.1_Silent_p.Q54Q|HNF1A_uc021rfc.1_Non-coding_Transcript NM_000545 NP_000536 P20823 HNF1A_HUMAN Homo sapiens HNF1 homeobox A (HNF1A), mRNA. 182 glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption cytoplasm|nucleus|protein complex DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1) 221 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) ATGCAGGGCAGGGAGGGCTGA 0.592000 Hepatic Adenoma, Familial Clustering of 374 15 0 0 0.028581 0 0 PTCHD3 374308 broad.mit.edu 37 10 27703027 27703027 + Silent SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr10:27703027C>T uc001itu.2 - 0 271 c.153G>A c.(151-153)ccG>ccA p.P51P NM_001034842 NP_001030014 Q3KNS1 PTHD3_HUMAN Homo sapiens patched domain containing 3 (PTCHD3), mRNA. 51 spermatid development integral to membrane hedgehog receptor activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 55 CGGGGGATTTCGGGGGTGCCA 0.682000 108 6 0 0 0.001984 0 0 OR2Z1 284383 broad.mit.edu 37 19 8841876 8841876 + Silent SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr19:8841876C>T uc010xkg.2 + 0 486 c.486C>T c.(484-486)atC>atT p.I162I NM_001004699 NP_001004699 Q8NG97 OR2Z1_HUMAN Homo sapiens olfactory receptor, family 2, subfamily Z, member 1 (OR2Z1), mRNA. 162 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 AGACCTCCATCACCCTGCATT 0.552000 126 10 0 0 0.010729 0 0 OR10K1 391109 broad.mit.edu 37 1 158435856 158435856 + Missense_Mutation SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr1:158435856C>T uc010pij.2 + 0 505 c.505C>T c.(505-507)Cac>Tac p.H169Y NM_001004473 NP_001004473 Q8NGX5 O10K1_HUMAN Homo sapiens olfactory receptor, family 10, subfamily K, member 1 (OR10K1), mRNA. 169 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 27 all_hematologic(112;0.0378) TCTGCCCTTCCACTCCTCCAA 0.537000 205 6 0 0 0.004482 0 0 SCN1A 6323 broad.mit.edu 37 2 166901655 166901655 + Silent SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr2:166901655G>A uc002udo.4 - 11 1787 c.1560C>T c.(1558-1560)ttC>ttT p.F520F SCN1A_uc010fpk.3_Silent_p.F520F|SCN1A_uc021vsb.1_Silent_p.F520F NM_001202435 NP_001189364 P35498 SCN1A_HUMAN Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA. 520 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) CAGATTTTTGGAATTCATCCT 0.438000 179 6 0 0 0.003080 0 0 GPR77 27202 broad.mit.edu 37 19 47844136 47844136 + Missense_Mutation SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr19:47844136C>T uc002pgk.1 + 1 151 c.80C>T c.(79-81)gCc>gTc p.A27V GPR77_uc010ela.1_Missense_Mutation_p.A27V|GPR77_uc021uwn.1_Missense_Mutation_p.A27V NM_018485 NP_060955 Q9P296 C5ARL_HUMAN Homo sapiens G protein-coupled receptor 77 (GPR77), mRNA. 27 chemotaxis integral to membrane|plasma membrane C5a anaphylatoxin receptor activity NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(1) 23 all_cancers(25;1.72e-06)|all_lung(116;2.15e-05)|all_epithelial(76;3.44e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.0652)|Ovarian(192;0.086) all cancers(93;0.000129)|OV - Ovarian serous cystadenocarcinoma(262;0.000415)|Epithelial(262;0.0109)|GBM - Glioblastoma multiforme(486;0.0138) CTGGATGGCGCCTGCCTGGCC 0.662000 106 5 0 0 0.021553 0 0 CASP10 843 broad.mit.edu 37 2 202074268 202074268 + Silent SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr2:202074268G>A uc002uxj.1 + 8 1816 c.1398G>A c.(1396-1398)ctG>ctA p.L466L CASP10_uc010ftb.2_3'UTR|CASP10_uc010fta.1_Silent_p.L399L|CASP10_uc002uxk.1_Silent_p.L423L|CASP10_uc002uxl.2_Silent_p.L466L|CASP10_uc002uxm.2_Silent_p.L423L NM_032977 NP_116759 Q92851 CASPA_HUMAN Homo sapiens caspase 10, apoptosis-related cysteine peptidase (CASP10), transcript variant 1, mRNA. 466 apoptosis|induction of apoptosis by extracellular signals|proteolysis cytosol|plasma membrane cysteine-type endopeptidase activity|identical protein binding|protein binding breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 27 GTAATCATCTGAAGAAATTGG 0.388000 107 6 0 0 0.003080 0 0 GABRQ 55879 broad.mit.edu 37 X 151806767 151806767 + Silent SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chrX:151806767C>T uc004ffp.1 + 0 131 c.111C>T c.(109-111)tcC>tcT p.S37S NM_018558 NP_061028 Q9UN88 GBRT_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) receptor, theta (GABRQ), mRNA. 37 cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|neurotransmitter transporter activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 52 Acute lymphoblastic leukemia(192;6.56e-05) TCGAGTTCTCCTCTGCTGTGC 0.632000 32 5 0 0 0.021553 0 0 SLC4A3 6508 broad.mit.edu 37 2 220504246 220504246 + Silent SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr2:220504246C>T uc002vmo.4 + 19 3356 c.3147C>T c.(3145-3147)tcC>tcT p.S1049S SLC4A3_uc002vmp.4_Silent_p.S1022S|SLC4A3_uc010fwm.3_Silent_p.S572S NM_201574 NP_963868 P48751 B3A3_HUMAN Homo sapiens solute carrier family 4, anion exchanger, member 3 (SLC4A3), transcript variant 2, mRNA. 1022 Membrane (anion exchange). bicarbonate transport integral to plasma membrane|membrane fraction inorganic anion exchanger activity breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2) 51 Renal(207;0.0183) Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TCAAGGGCTCCGGTTTCCACC 0.682000 80 6 0 0 0.003080 0 0 VPS28 51160 broad.mit.edu 37 8 145650164 145650164 + Silent SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr8:145650164G>A uc003zct.1 - 6 429 c.339C>T c.(337-339)gaC>gaT p.D113D VPS28_uc003zcs.1_Silent_p.D113D NM_183057 NP_898880 Q9UK41 VPS28_HUMAN Homo sapiens vacuolar protein sorting 28 homolog (S. cerevisiae) (VPS28), transcript variant 2, mRNA. 113 VPS28 N-terminal. cellular membrane organization|endosome transport|negative regulation of protein ubiquitination|protein transport cytosol|late endosome membrane|plasma membrane protein binding kidney(1)|large_intestine(1)|lung(4)|prostate(1) 7 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055) TGATGGGCCGGTCCTCCTTGA 0.667000 91 6 0 0 0.021553 0 0 LAMB4 22798 broad.mit.edu 37 7 107748102 107748102 + Missense_Mutation SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr7:107748102C>T uc010ljo.1 - 5 649 c.565G>A c.(565-567)Gat>Aat p.D189N LAMB4_uc003vey.2_Missense_Mutation_p.D189N NM_007356 NP_031382 A4D0S4 LAMB4_HUMAN Homo sapiens laminin, beta 4 (LAMB4), mRNA. 189 Laminin N-terminal. cell adhesion basement membrane NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4) 97 GGTTCAATATCCGAGTATTTG 0.363000 62 4 0 0 0.021553 0 0 C14orf101 54916 broad.mit.edu 37 14 57070588 57070588 + Missense_Mutation SNP C T T rs149705965 byFrequency TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr14:57070588C>T uc001xcm.3 + 3 522 c.400C>T c.(400-402)Cgt>Tgt p.R134C C14orf101_uc001xcj.3_Non-coding_Transcript|C14orf101_uc001xck.3_Missense_Mutation_p.R134C|C14orf101_uc010aot.1_Missense_Mutation_p.R134C|C14orf101_uc001xcl.1_Non-coding_Transcript|C14orf101_uc001xcn.3_Non-coding_Transcript|C14orf101_uc010trf.2_Intron NM_017799 NP_060269 Q9NX78 CN101_HUMAN Homo sapiens chromosome 14 open reading frame 101 (C14orf101), mRNA. 134 integral to membrane NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 OV - Ovarian serous cystadenocarcinoma(311;0.226) TTCATTTTCTCGTCTAACATG 0.438000 122 5 0 0 0.001984 0 0 HK2 3099 broad.mit.edu 37 2 75115072 75115073 + Missense_Mutation DNP CC TT TT rs145465326 TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr2:75115072_75115073CC>TT uc002snd.3 + 15 4188_4189 c.2262_2263CC>TT c.(2260-2265)gtccgt>gtTTgt p.R755C NM_000189 NP_000180 P52789 HXK2_HUMAN Homo sapiens hexokinase 2 (HK2), mRNA. 755 Catalytic. apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport cytosol|mitochondrial outer membrane ATP binding|glucokinase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 43 GTGAGATTGTCCGTAACATTCT 0.475000 109 5 0 0 0.004672 0 0 UGT1A1 54658 broad.mit.edu 37 2 234602330 234602330 + Missense_Mutation SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr2:234602330C>T uc002vuv.4 + 0 819 c.680C>T c.(679-681)tCa>tTa p.S227L UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Intron|UGT1A1_uc002vus.3_Intron|UGT1A1_uc010zmx.1_Intron|UGT1A1_uc002vut.3_Intron|UGT1A1_uc002vuu.3_Intron|UGT1A1_uc010zmy.1_Missense_Mutation_p.S227L NM_001072 NP_001063 P22309 UD11_HUMAN Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A6 (UGT1A6), transcript variant 1, mRNA. 228 bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process endoplasmic reticulum membrane|microsome enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2) 30 Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128) Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054) Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197) TGTCTGTTTTCAAAGTATGAA 0.393000 151 6 0 0 0.021553 0 0 RIOK1 83732 broad.mit.edu 37 6 7405486 7405486 + Silent SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr6:7405486C>T uc003mxn.3 + 11 1275 c.1101C>T c.(1099-1101)ttC>ttT p.F367F RIOK1_uc003mxo.3_Silent_p.F126F NM_031480 NP_694550 Q9BRS2 RIOK1_HUMAN Homo sapiens RIO kinase 1 (yeast) (RIOK1), transcript variant 1, mRNA. 367 Protein kinase. ATP binding|protein serine/threonine kinase activity cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 19 Ovarian(93;0.0418) TGACAGATTTCTTTATGAGGC 0.363000 34 4 0 0 0.014758 0 0 OR2A2 442361 broad.mit.edu 37 7 143807056 143807056 + Silent SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr7:143807056C>T uc011ktz.2 + 0 381 c.381C>T c.(379-381)caC>caT p.H127H NM_001005480 NP_001005480 Q6IF42 OR2A2_HUMAN Homo sapiens olfactory receptor, family 2, subfamily A, member 2 (OR2A2), mRNA. 127 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4) 22 Melanoma(164;0.0783) CCATCTGCCACCCTTTCCAGT 0.473000 109 5 0 0 0.014758 0 0 C7orf63 79846 broad.mit.edu 37 7 89938617 89938617 + Missense_Mutation SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr7:89938617G>A uc010lep.3 + 21 2842 c.2591G>A c.(2590-2592)aGa>aAa p.R864K C7orf63_uc011khj.2_Missense_Mutation_p.R846K|C7orf63_uc011khk.2_Missense_Mutation_p.R380K NM_001039706 NP_001034795 A5D8W1 CG063_HUMAN Homo sapiens chromosome 7 open reading frame 63 (C7orf63), transcript variant 1, mRNA. 864 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3) 37 GAAGCCTCCAGATACCATAAA 0.308000 85 5 0 0 0.021553 0 0 RPAP1 26015 broad.mit.edu 37 15 41812679 41812679 + Silent SNP G C C TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr15:41812679G>C uc001zod.3 - 21 3829 c.3705C>G c.(3703-3705)ccC>ccG p.P1235P NM_015540 NP_056355 Q9BWH6 RPAP1_HUMAN Homo sapiens RNA polymerase II associated protein 1 (RPAP1), mRNA. 1235 Leu-rich. nucleus DNA binding|DNA-directed RNA polymerase activity p.P1235L(1) NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 45 all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117) GACGCTGCAGGGGCAGGAGGA 0.592000 24 3 0 0 0.004672 0 0 TTC17 55761 broad.mit.edu 37 11 43511823 43511823 + Missense_Mutation SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr11:43511823C>T uc001mxi.3 + 21 3135 c.3065C>T c.(3064-3066)gCc>gTc p.A1022V TTC17_uc010rfj.2_Missense_Mutation_p.A1022V|TTC17_uc001mxl.3_Missense_Mutation_p.A78V NM_018259 NP_060729 Q96AE7 TTC17_HUMAN Homo sapiens tetratricopeptide repeat domain 17 (TTC17), mRNA. 1022 binding breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3) 53 AGCATGGCAGCCCTCTACTGG 0.522000 80 6 0 0 0.001984 0 0 DET1 55070 broad.mit.edu 37 15 89074606 89074606 + Nonsense_Mutation SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr15:89074606G>A uc002bmq.2 - 2 553 c.364C>T c.(364-366)Cag>Tag p.Q122* DET1_uc002bmp.4_Non-coding_Transcript|DET1_uc002bmr.2_Nonsense_Mutation_p.Q111*|DET1_uc010bnk.2_Non-coding_Transcript NM_017996 NP_001137546 Q7L5Y6 DET1_HUMAN Homo sapiens de-etiolated homolog 1 (Arabidopsis) (DET1), transcript variant 1, mRNA. 111 nucleus endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Lung NSC(78;0.105)|all_lung(78;0.182) BRCA - Breast invasive adenocarcinoma(143;0.188) ACTGACCGCTGGTCATTGCCA 0.532000 61 4 0 0 0.009096 0 0 SUN1 23353 broad.mit.edu 37 7 909027 909027 + Silent SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr7:909027C>T uc021zym.1 + 16 2042 c.2022C>T c.(2020-2022)tcC>tcT p.S674S GET4_uc003sjj.1_Intron|SUN1_uc011jvq.2_Silent_p.S571S|SUN1_uc003sjf.3_Silent_p.S591S|SUN1_uc003sjg.3_Silent_p.S579S|SUN1_uc011jvr.2_Silent_p.S472S|SUN1_uc003sji.3_Silent_p.S512S|SUN1_uc003sjk.3_Silent_p.S313S NM_001130965 NP_001124437 O94901 SUN1_HUMAN Homo sapiens Sad1 and UNC84 domain containing 1 (SUN1), transcript variant 1, mRNA. 701 SUN. cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane SUN-KASH complex|integral to membrane|nuclear inner membrane protein binding NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 TTAAAGGCTCCCAGGGGTACC 0.547000 151 10 0 0 0.010729 0 0 SCN7A 6332 broad.mit.edu 37 2 167262274 167262274 + Missense_Mutation SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr2:167262274C>T uc002udu.2 - 24 4995 c.4865G>A c.(4864-4866)cGa>cAa p.R1622Q SCN7A_uc010fpm.2_Non-coding_Transcript NM_002976 NP_002967 Q01118 SCN7A_HUMAN Homo sapiens sodium channel, voltage-gated, type VII, alpha (SCN7A), transcript variant 1, mRNA. 1622 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1) 44 CTCTTGTTTTCGTTTCAAAGT 0.363000 173 7 0 0 0.001984 0 0 VN1R2 317701 broad.mit.edu 37 19 53762361 53762361 + Missense_Mutation SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr19:53762361G>A uc002qbi.2 + 0 817 c.733G>A c.(733-735)Gat>Aat p.D245N NM_173856 NP_776255 Q8NFZ6 VN1R2_HUMAN Homo sapiens vomeronasal 1 receptor 2 (VN1R2), mRNA. 245 response to pheromone integral to membrane|plasma membrane pheromone receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 31 GBM - Glioblastoma multiforme(134;0.00301) AAAGAAAGGAGATTTGGGATA 0.428000 73 5 0 0 0.014758 0 0 KIAA0355 9710 broad.mit.edu 37 19 34833122 34833122 + Silent SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr19:34833122C>T uc002nvd.4 + 9 3142 c.2283C>T c.(2281-2283)tcC>tcT p.S761S NM_014686 NP_055501 O15063 K0355_HUMAN Homo sapiens KIAA0355 (KIAA0355), mRNA. 761 breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 41 Esophageal squamous(110;0.162) ATGGCTCATCCCAGCAGCCAG 0.582000 150 7 0 0 0.001984 0 0 ESYT3 83850 broad.mit.edu 37 3 138187005 138187005 + Missense_Mutation SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr3:138187005C>T uc003esk.3 + 11 1503 c.1277C>T c.(1276-1278)tCa>tTa p.S426L ESYT3_uc010hug.2_Non-coding_Transcript NM_031913 NP_114119 A0FGR9 ESYT3_HUMAN Homo sapiens extended synaptotagmin-like protein 3 (ESYT3), mRNA. 426 integral to membrane|plasma membrane breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 25 GAGTGGCTTTCATTGCTTACT 0.582000 518 26 0 0 0.007291 0 0 IGH 0 broad.mit.edu 37 16 32070612 32070612 + RNA SNP A C C TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr16:32070612A>C uc002ecv.1 + 0 c.65A>C Homo sapiens IGH mRNA for immunoglobulin heavy chain VHDJ region, partial cds, clone:H233. GGTCTCCTGCAAGGCTTCTGG 0.552000 50 3 0 0 0.004672 0 0 PPP1R1B 84152 broad.mit.edu 37 17 37785468 37785468 + Missense_Mutation SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr17:37785468G>A uc002hrz.3 + 1 596 c.127G>A c.(127-129)Gag>Aag p.E43K PPP1R1B_uc010cvx.3_Missense_Mutation_p.E43K|PPP1R1B_uc002hsb.3_Missense_Mutation_p.E7K|PPP1R1B_uc002hsc.3_Missense_Mutation_p.E7K NM_032192 NP_852606 Q9UD71 PPR1B_HUMAN Homo sapiens protein phosphatase 1, regulatory (inhibitor) subunit 1B (PPP1R1B), transcript variant 1, mRNA. 43 signal transduction cytosol protein kinase inhibitor activity|protein phosphatase inhibitor activity kidney(1)|large_intestine(1)|liver(1)|lung(2) 5 Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171) CCGGCTCTCAGAGCACTCCTC 0.647000 70 6 0 0 0.006214 0 0 ARHGEF11 9826 broad.mit.edu 37 1 156926341 156926341 + Silent SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr1:156926341G>A uc001fqo.3 - 17 2462 c.1422C>T c.(1420-1422)ttC>ttT p.F474F ARHGEF11_uc001fqn.3_Silent_p.F514F|ARHGEF11_uc001fqp.1_Silent_p.F3F NM_014784 NP_055599 O15085 ARHGB_HUMAN Homo sapiens Rho guanine nucleotide exchange factor (GEF) 11 (ARHGEF11), transcript variant 1, mRNA. 474 RGSL. G-protein coupled receptor protein signaling pathway|Rho protein signal transduction|actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of Rho protein signal transduction|regulation of cell growth|striated muscle contraction Golgi apparatus|cytosol|plasma membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2) 81 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) TATTGAGGGCGAAGTCCATGG 0.527000 101 5 0 0 0.001984 0 0 SERPINI2 5276 broad.mit.edu 37 3 167189541 167189541 + Missense_Mutation SNP C T T rs147443553 TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr3:167189541C>T uc003fes.1 - 1 183 c.112G>A c.(112-114)Gaa>Aaa p.E38K SERPINI2_uc003fer.1_Missense_Mutation_p.E28K|SERPINI2_uc003fet.1_Missense_Mutation_p.E28K NM_006217 NP_006208 O75830 SPI2_HUMAN Homo sapiens serpin peptidase inhibitor, clade I (pancpin), member 2 (SERPINI2), mRNA. 28 cellular component movement|regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity p.S38S(1) NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1) 41 ACTGCAAATTCGGTATTTTTT 0.368000 111 8 0 0 0.003080 0 0 MUC17 140453 broad.mit.edu 37 7 100685192 100685192 + Missense_Mutation SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr7:100685192C>T uc003uxp.1 + 2 10548 c.10495C>T c.(10495-10497)Cct>Tct p.P3499S MUC17_uc010lho.1_Non-coding_Transcript NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN Homo sapiens mucin 17, cell surface associated (MUC17), mRNA. 3499 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity p.P3499H(1) NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) CAATTCATCTCCTACAACTGC 0.517000 238 12 0 0 0.013537 0 0 SAGE1 55511 broad.mit.edu 37 X 134993456 134993456 + Missense_Mutation SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chrX:134993456G>A uc004ezh.3 + 16 2278 c.2111G>A c.(2110-2112)gGa>gAa p.G704E SAGE1_uc010nry.1_Missense_Mutation_p.G673E|SAGE1_uc011mvv.2_Missense_Mutation_p.G328E NM_018666 NP_061136 Q9NXZ1 SAGE1_HUMAN Homo sapiens sarcoma antigen 1 (SAGE1), mRNA. 704 breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 Acute lymphoblastic leukemia(192;0.000127) AATCTGTCAGGAGCTGGTATT 0.468000 54 7 0 0 0.001984 0 0 OR5A1 219982 broad.mit.edu 37 11 59211109 59211109 + Silent SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr11:59211109C>T uc001nnx.1 + 0 468 c.468C>T c.(466-468)ttC>ttT p.F156F NM_001004728 NP_001004728 Q8NGJ0 OR5A1_HUMAN Homo sapiens olfactory receptor, family 5, subfamily A, member 1 (OR5A1), mRNA. 156 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1) 28 TTGGTGGCTTCCTGAGCTCCC 0.562000 266 10 0 0 0.010729 0 0 CEACAM6 4680 broad.mit.edu 37 19 42265234 42265234 + Missense_Mutation SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr19:42265234G>A uc002orm.2 + 2 651 c.502G>A c.(502-504)Gaa>Aaa p.E168K NM_002483 NP_002474 P40199 CEAM6_HUMAN Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen) (CEACAM6), mRNA. 168 Ig-like C2-type 1. cell-cell signaling|signal transduction anchored to membrane|integral to plasma membrane breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797) CTTCACCTGTGAACCTGAGGT 0.567000 183 12 0 0 0.013537 0 0 HS6ST1 9394 broad.mit.edu 37 2 129026429 129026429 + Silent SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr2:129026429G>A uc002tpt.4 - 1 577 c.543C>T c.(541-543)atC>atT p.I181I NM_004807 NP_004798 O60243 H6ST1_HUMAN Homo sapiens heparan sulfate 6-O-sulfotransferase 1 (HS6ST1), mRNA. 181 heparan sulfate proteoglycan biosynthetic process, enzymatic modification integral to plasma membrane sulfotransferase activity endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1) 15 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.117) GTAGCAGGGTGATGTAGTAGA 0.612000 35 6 0 0 0.021553 0 0 REG4 83998 broad.mit.edu 37 1 120337285 120337285 + Missense_Mutation SNP C T T rs150927973 TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr1:120337285C>T uc001eig.3 - 6 873 c.433G>A c.(433-435)Gaa>Aaa p.E145K REG4_uc001eif.3_Missense_Mutation_p.E145K NM_001159352 NP_114433 Q9BYZ8 REG4_HUMAN Homo sapiens regenerating islet-derived family, member 4 (REG4), transcript variant 1, mRNA. 145 C-type lectin. extracellular region sugar binding p.E145K(4) central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(2)|prostate(1)|skin(2) 15 all_cancers(5;4.81e-10)|all_epithelial(5;7.98e-11)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219) all_lung(203;8.1e-07)|Lung NSC(69;5.89e-06)|all_epithelial(167;0.000959) Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0588) TTGTTGCATTCGTTGCTGCTC 0.423000 416 26 0 0 0.007291 0 0 COL15A1 1306 broad.mit.edu 37 9 101797632 101797632 + Splice_Site SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr9:101797632G>A uc004azb.1 + 19 2427 c.2221_splice c.e19-1 p.D741_splice NM_001855 NP_001846 P39059 COFA1_HUMAN Homo sapiens collagen, type XV, alpha 1 (COL15A1), mRNA. 741 Nonhelical region 3 (NC3). angiogenesis|cell differentiation|signal transduction collagen type XV|extracellular space|integral to membrane binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 107 Acute lymphoblastic leukemia(62;0.0562) CCTTCCCCAGGATACCGAAGG 0.532000 78 5 0 0 0.014758 0 0 RBM41 55285 broad.mit.edu 37 X 106331885 106331885 + Silent SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chrX:106331885G>A uc004emz.3 - 4 762 c.708C>T c.(706-708)ctC>ctT p.L236L RBM41_uc004emy.2_Silent_p.L236L NM_018301 NP_060771 Q96IZ5 RBM41_HUMAN Homo sapiens RNA binding motif protein 41 (RBM41), transcript variant 1, mRNA. 236 RNA binding|nucleotide binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 13 CCTTGTCCTGGAGTAATGATG 0.493000 21 3 0 0 0.004672 0 0 ZNF543 125919 broad.mit.edu 37 19 57838039 57838039 + Missense_Mutation SNP G T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr19:57838039G>T uc002qoi.2 + 2 541 c.184G>T c.(184-186)Gat>Tat p.D62Y NM_213598 NP_998763 Q08ER8 ZN543_HUMAN Homo sapiens zinc finger protein 543 (ZNF543), mRNA. 62 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 28 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) CTACCAGTTGGATCACAGACA 0.498000 73 6 1.06961e-07 1.11195e-07 0.003080 1 0 DST 667 broad.mit.edu 37 6 56765251 56765251 + Missense_Mutation SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr6:56765251G>A uc021zba.1 - 2 405 c.385C>T c.(385-387)Cac>Tac p.H129Y Q03001 DYST_HUMAN RecName: Full=Dystonin; AltName: Full=230 kDa bullous pemphigoid antigen; AltName: Full=230/240 kDa bullous pemphigoid antigen; AltName: Full=Bullous pemphigoid antigen 1; Short=BPA; Short=Bullous pemphigoid antigen; AltName: Full=Dystonia musculorum protein; AltName: Full=Hemidesmosomal plaque protein; 7484 Actin-binding.|CH 1. 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 Z disc|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 actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding|protein 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) TGAACAGAGTGATAAAATTCT 0.408000 201 11 0 0 0.010729 0 0 P2RY13 53829 broad.mit.edu 37 3 151046682 151046682 + Silent SNP A C C TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr3:151046682A>C uc003eyv.2 - 1 183 c.162T>G c.(160-162)gtT>gtG p.V54V MED12L_uc003eyp.3_Intron|MED12L_uc011bnz.2_Intron NM_176894 NP_795713 Q9BPV8 P2Y13_HUMAN Homo sapiens purinergic receptor P2Y, G-protein coupled, 13 (P2RY13), mRNA. 54 integral to membrane|plasma membrane biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 14 LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278) CGGTCAAGAAAACCACTGTGT 0.507000 127 6 0 0 0.021553 0 0 OR12D2 26529 broad.mit.edu 37 6 29364501 29364501 + Missense_Mutation SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr6:29364501G>A uc003nmf.4 + 0 86 c.25G>A c.(25-27)Gaa>Aaa p.E9K NM_013936 NP_039224 P58182 O12D2_HUMAN Homo sapiens olfactory receptor, family 12, subfamily D, member 2 (OR12D2), mRNA. 9 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.E9K(2) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 31 CTCAGTCACCGAATTTCTCCT 0.433000 198 14 0 0 0.004990 0 0 HOXB-AS3 404266 broad.mit.edu 37 17 46669655 46669655 + Splice_Site SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr17:46669655G>A uc021tzi.1 + 1 c.1_splice c.e1-1 HOXB3_uc010wlm.2_5'Flank|HOXB3_uc010dbf.3_5'Flank|HOXB3_uc010dbg.3_5'Flank|HOXB-AS3_uc021tzg.1_Intron|HOXB-AS3_uc021tzh.1_Intron|HOXB5_uc002inr.3_Silent_p.F242F|HOXB-AS3_uc021tzj.1_Splice_Site Homo sapiens uncharacterized LOC404266 (LOC404266), transcript variant 3, non-coding RNA. GCCGGTTCTGGAACCAGATCT 0.592000 129 6 0 0 0.004482 0 0 IMPDH1 3614 broad.mit.edu 37 7 128038621 128038621 + Silent SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr7:128038621G>A uc011kol.1 - 6 772 c.666C>T c.(664-666)atC>atT p.I222I IMPDH1_uc011kom.1_Silent_p.I217I|IMPDH1_uc003vmt.2_Silent_p.I197I|IMPDH1_uc003vmu.2_Silent_p.I307I|IMPDH1_uc003vmx.2_Silent_p.I230I|IMPDH1_uc003vmy.2_Silent_p.I238I|IMPDH1_uc003vmw.2_Silent_p.I297I|IMPDH1_uc011kon.1_Silent_p.I274I|IMPDH1_uc003vmv.2_Silent_p.I271I NM_001142573 NP_001136045 P20839 IMDH1_HUMAN Homo sapiens IMP (inosine 5'-monophosphate) dehydrogenase 1 (IMPDH1), transcript variant 5, mRNA. 222 CBS 2. GMP biosynthetic process|purine base metabolic process cytosol|nucleus DNA binding|IMP dehydrogenase activity|metal ion binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3) 22 Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352) CGGTGCGGGCGATGATGGCCA 0.582000 OREG0018292 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 127 7 0 0 0.003080 0 0 MLIP 90523 broad.mit.edu 37 6 53986275 53986275 + Silent SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr6:53986275C>T uc011dxa.2 + 1 160 c.127C>T c.(127-129)Ctg>Ttg p.L43L MLIP_uc003pcf.2_Silent_p.L32L|MLIP_uc003pcg.4_Silent_p.L32L|MLIP_uc003pch.4_Intron|MLIP_uc011dwz.1_Intron NM_138569 NP_612636 Q5VWP3 MLIP_HUMAN Homo sapiens muscular LMNA-interacting protein (MLIP), mRNA. 32 PML body|nuclear envelope protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1) 34 AGCCAAACCTCTGATCTTCAC 0.408000 111 6 0 0 0.006214 0 0 PKHD1 5314 broad.mit.edu 37 6 51882277 51882277 + Missense_Mutation SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr6:51882277G>A uc003pah.1 - 33 5807 c.5531C>T c.(5530-5532)tCc>tTc p.S1844F PKHD1_uc003pai.3_Missense_Mutation_p.S1844F NM_138694 NP_619639 P08F94 PKHD1_HUMAN Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA. 1844 cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) GAGGCATTGGGAACTTTCCTC 0.493000 92 5 0 0 0.014758 0 0 ANKS1A 23294 broad.mit.edu 37 6 35048853 35048853 + Missense_Mutation SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr6:35048853C>T uc003ojx.4 + 16 2769 c.2627C>T c.(2626-2628)cCt>cTt p.P876L ANKS1A_uc011dst.2_Missense_Mutation_p.P416L|ANKS1A_uc010jvp.2_Missense_Mutation_p.P250L NM_015245 NP_056060 Q92625 ANS1A_HUMAN Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1A (ANKS1A), mRNA. 876 cytoplasm protein binding cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 CTGCTGCTGCCTCCAGGGGAC 0.627000 47 7 0 0 0.004482 0 0 MUC16 94025 broad.mit.edu 37 19 9068069 9068069 + Silent SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr19:9068069G>A uc002mkp.3 - 2 19581 c.19377C>T c.(19375-19377)acC>acT p.T6459T NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 6461 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CCCAGGTAAGGGTACCCTGTG 0.483000 194 15 0 0 0.004990 0 0 RFPL1 5988 broad.mit.edu 37 22 29835128 29835128 + Missense_Mutation SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr22:29835128G>A uc003afn.3 + 0 557 c.348G>A c.(346-348)atG>atA p.M116I RFPL1-AS1_uc003afm.2_Non-coding_Transcript NM_021026 NP_066306 O75677 RFPL1_HUMAN Homo sapiens ret finger protein-like 1 (RFPL1), mRNA. 116 B30.2/SPRY. zinc ion binding endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 16 TTCTGCAGATGAACCCAAGGA 0.517000 91 5 0 0 0.021553 0 0 FAM48B2 170067 broad.mit.edu 37 X 24329620 24329620 + Missense_Mutation SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chrX:24329620G>A uc011mjw.2 - 0 1813 c.1813C>T c.(1813-1815)Cct>Tct p.P605S NM_001136233 NP_001129705 P0C7V6 F48B2_HUMAN Homo sapiens family with sequence similarity 48, member B2 (FAM48B2), mRNA. 605 breast(1)|endometrium(4)|large_intestine(1)|liver(1)|lung(12)|ovary(2)|prostate(1)|skin(1) 23 ATTCCTGCAGGAGCGGGGGCA 0.637000 23 5 0 0 0.014758 0 0 IGHE 3497 broad.mit.edu 37 14 106067791 106067791 + Missense_Mutation SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr14:106067791G>A uc001yrw.1 - 1 329 c.317C>T c.(316-318)tCg>tTg p.S106L abParts_uc021ser.1_Intron|DKFZp686O16217_uc001yrs.3_Intron|DKFZp686O16217_uc001yrt.3_Intron|IGHE_uc001yrx.2_Missense_Mutation_p.S53L|IGHE_uc001yru.2_5'Flank RecName: Full=Ig epsilon chain C region; GTCTGTGGACGATGGAGTGTG 0.597000 236 15 0 0 0.028581 0 0 OR13C4 138804 broad.mit.edu 37 9 107288987 107288987 + Silent SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr9:107288987G>A uc011lvn.2 - 0 504 c.504C>T c.(502-504)ttC>ttT p.F168F NM_001001919 NP_001001919 Q8NGS5 O13C4_HUMAN Homo sapiens olfactory receptor, family 13, subfamily C, member 4 (OR13C4), mRNA. 168 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|large_intestine(2)|lung(14)|skin(1) 18 TGTTCCCACAGAAAGGCCATC 0.388000 80 5 0 0 0.014758 0 0 FN1 2335 broad.mit.edu 37 2 216271880 216271880 + Nonsense_Mutation SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr2:216271880G>A uc002vfa.3 - 17 2949 c.2683C>T c.(2683-2685)Caa>Taa p.Q895* FN1_uc002vfc.3_Nonsense_Mutation_p.Q895*|FN1_uc002vfe.3_Nonsense_Mutation_p.Q895*|FN1_uc002vff.3_Nonsense_Mutation_p.Q895*|FN1_uc002vfg.3_Nonsense_Mutation_p.Q895*|FN1_uc002vfh.3_Nonsense_Mutation_p.Q895*|FN1_uc002vfi.3_Nonsense_Mutation_p.Q895*|FN1_uc002vfj.3_Nonsense_Mutation_p.Q895*|FN1_uc002vfb.3_Nonsense_Mutation_p.Q895* NM_212482 NP_997647 P02751 FINC_HUMAN Homo sapiens fibronectin 1 (FN1), transcript variant 1, mRNA. 895 Fibronectin type-III 3. acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding FN1/ALK(2) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 109 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GTTTCTTGTTGAATGACAACA 0.423000 91 7 0 0 0.003080 0 0 KCNQ5 56479 broad.mit.edu 37 6 73904714 73904714 + Silent SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr6:73904714G>A uc011dyh.2 + 14 2780 c.2433G>A c.(2431-2433)caG>caA p.Q811Q KCNQ5_uc011dyi.2_Silent_p.Q802Q|KCNQ5_uc010kat.3_Silent_p.Q783Q|KCNQ5_uc003pgk.3_Silent_p.Q792Q|KCNQ5_uc011dyj.2_Silent_p.Q682Q|KCNQ5_uc011dyk.2_Silent_p.Q542Q NM_001160133 NP_001153605 Q9NR82 KCNQ5_HUMAN Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 5 (KCNQ5), transcript variant 4, mRNA. 792 protein complex assembly|synaptic transmission voltage-gated potassium channel complex inward rectifier potassium channel activity breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 57 all_epithelial(107;0.116)|Lung NSC(302;0.219) COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583) AAAATGTTCAGGTTGCACAGT 0.507000 62 4 0 0 0.009096 0 0 GPR98 84059 broad.mit.edu 37 5 89920996 89920996 + Missense_Mutation SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr5:89920996G>A uc003kju.3 + 5 704 c.608G>A c.(607-609)gGa>gAa p.G203E GPR98_uc003kjt.3_5'UTR NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA. 203 Calx-beta 2. cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane G-protein coupled receptor activity|calcium ion binding NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) CCAGTTAAAGGAAATATCACC 0.418000 17 4 0 0 0.014758 0 0 CUL3 8452 broad.mit.edu 37 2 225370813 225370813 + Missense_Mutation SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr2:225370813G>A uc010fwy.1 - 7 1137 c.1084C>T c.(1084-1086)Ctc>Ttc p.L362F CUL3_uc010zls.1_Missense_Mutation_p.L290F|CUL3_uc002vny.2_Missense_Mutation_p.L356F NM_003590 NP_003581 Q13618 CUL3_HUMAN Homo sapiens cullin 3 (CUL3), mRNA. 356 G1/S transition of mitotic cell cycle|cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule ubiquitin protein ligase binding endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 46 all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138) Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902) GATTCCAGGAGGAAGCGATCG 0.358000 29 3 0 0 0.009096 0 0 FN1 2335 broad.mit.edu 37 2 216289870 216289870 + Missense_Mutation SNP T C C TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr2:216289870T>C uc002vfa.3 - 6 1249 c.983A>G c.(982-984)aAt>aGt p.N328S FN1_uc002vfc.3_Missense_Mutation_p.N328S|FN1_uc002vfe.3_Missense_Mutation_p.N328S|FN1_uc002vff.3_Missense_Mutation_p.N328S|FN1_uc002vfg.3_Missense_Mutation_p.N328S|FN1_uc002vfh.3_Missense_Mutation_p.N328S|FN1_uc002vfi.3_Missense_Mutation_p.N328S|FN1_uc002vfj.3_Missense_Mutation_p.N328S|FN1_uc002vfb.3_Missense_Mutation_p.N328S|FN1_uc002vfl.3_Missense_Mutation_p.N328S NM_212482 NP_997647 P02751 FINC_HUMAN Homo sapiens fibronectin 1 (FN1), transcript variant 1, mRNA. 328 Collagen-binding.|Fibronectin type-I 6. acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding FN1/ALK(2) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 109 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CATTTGCTTATTTCCTTGTGT 0.498000 230 8 0 0 0.003080 0 0 TRIML1 339976 broad.mit.edu 37 4 189068016 189068016 + Silent SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr4:189068016C>T uc003izm.1 + 5 1012 c.897C>T c.(895-897)ctC>ctT p.L299L TRIML1_uc003izn.1_Silent_p.L23L NM_178556 NP_848651 Q8N9V2 TRIML_HUMAN Homo sapiens tripartite motif family-like 1 (TRIML1), mRNA. 299 B30.2/SPRY. multicellular organismal development ligase activity|zinc ion binding p.L299L(4) NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 60 all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062) OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156) ATGCCTATCTCGTGTTGTCGG 0.512000 168 11 0 0 0.016723 0 0 MUC17 140453 broad.mit.edu 37 7 100681341 100681341 + Missense_Mutation SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr7:100681341C>T uc003uxp.1 + 2 6697 c.6644C>T c.(6643-6645)cCt>cTt p.P2215L MUC17_uc010lho.1_Non-coding_Transcript NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN Homo sapiens mucin 17, cell surface associated (MUC17), mRNA. 2215 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) ACCTCAACTCCTAGTGAAGGA 0.502000 373 20 0 0 0.012319 0 0 ZNF611 81856 broad.mit.edu 37 19 53209792 53209792 + Silent SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr19:53209792G>A uc002pzz.3 - 6 833 c.516C>T c.(514-516)atC>atT p.I172I ZNF611_uc010eqc.3_Silent_p.I102I|ZNF611_uc010ydo.2_Silent_p.I102I|ZNF611_uc010ydp.2_Silent_p.I172I|ZNF611_uc010ydq.2_Silent_p.I172I|ZNF611_uc010ydr.2_Silent_p.I103I|ZNF611_uc002qaa.4_Silent_p.I102I|ZNF611_uc021uyy.1_Silent_p.I103I NM_030972 NP_001154973 Q8N823 ZN611_HUMAN Homo sapiens zinc finger protein 611 (ZNF611), transcript variant 1, mRNA. 172 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04) TTTCACCTTTGATCTGAAATA 0.403000 134 6 0 0 0.021553 0 0 TAGAP 117289 broad.mit.edu 37 6 159457252 159457252 + Silent SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr6:159457252C>T uc003qrz.3 - 9 2135 c.1803G>A c.(1801-1803)caG>caA p.Q601Q TAGAP_uc011eft.2_Silent_p.Q538Q|TAGAP_uc003qsa.3_Silent_p.Q423Q NM_054114 NP_687034 Q8N103 TAGAP_HUMAN Homo sapiens T-cell activation RhoGTPase activating protein (TAGAP), transcript variant 2, mRNA. 601 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|guanyl-nucleotide exchange factor activity NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1) 23 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06) CTGCCGGGCCCTGCATGGCCT 0.652000 50 4 0 0 0.009096 0 0 GIMAP6 474344 broad.mit.edu 37 7 150327203 150327203 + Missense_Mutation SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr7:150327203G>A uc022apv.1 - 1 508 c.28C>T c.(28-30)Ccc>Tcc p.P10S GIMAP6_uc003whn.3_Missense_Mutation_p.P10S|GIMAP6_uc003whm.3_Missense_Mutation_p.P10S NM_001244072 NP_001231001 Q6P9H5 GIMA6_HUMAN Homo sapiens GTPase, IMAP family member 6 (GIMAP6), transcript variant 2, mRNA. 10 GTP binding endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 29 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TTCTCCTGGGGAATTTGTTCA 0.428000 102 7 0 0 0.001984 0 0 PHF20L1 51105 broad.mit.edu 37 8 133790096 133790096 + Missense_Mutation SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr8:133790096C>T uc003ytt.3 + 1 347 c.22C>T c.(22-24)Cgc>Tgc p.R8C PHF20L1_uc003ytr.3_Missense_Mutation_p.R8C|PHF20L1_uc010mdv.3_Missense_Mutation_p.R8C|PHF20L1_uc003yts.3_Missense_Mutation_p.R8C|PHF20L1_uc011lja.2_Missense_Mutation_p.R8C|PHF20L1_uc003ytu.1_Non-coding_Transcript NM_016018 NP_057102 A8MW92 P20L1_HUMAN Homo sapiens PHD finger protein 20-like 1 (PHF20L1), transcript variant 1, mRNA. 8 nucleic acid binding|zinc ion binding p.R8L(1) breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2) 15 all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;4.46e-05) GCCCCCAAATCGCCCTGGAAT 0.368000 87 5 0 0 0.021553 0 0 COL6A2 1292 broad.mit.edu 37 21 47541503 47541503 + Missense_Mutation SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr21:47541503C>T uc002zia.1 + 17 1574 c.1492C>T c.(1492-1494)Cgt>Tgt p.R498C COL6A2_uc002zhz.1_Missense_Mutation_p.R498C|COL6A2_uc002zhy.1_Missense_Mutation_p.R498C NM_001849 NP_001840 P12110 CO6A2_HUMAN Homo sapiens collagen, type VI, alpha 2 (COL6A2), transcript variant 2C2, mRNA. 498 Triple-helical region. R -> H (in UCMD). axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization collagen|extracellular space|protein complex extracellular matrix structural constituent|protein binding, bridging NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 43 Breast(49;0.245) Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649) TGCAGGACCCCGTGGAGACTC 0.657000 23 3 0 0 0.009096 0 0 AHCY 191 broad.mit.edu 37 20 32879290 32879291 + Missense_Mutation DNP AG GA GA TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr20:32879290_32879291AG>GA uc002xai.3 - 4 631_632 c.492_493CT>TC c.(490-495)ctctac>ctTCac p.Y165H AHCY_uc002xaj.3_Missense_Mutation_p.Y137H NM_000687 NP_001155238 P23526 SAHH_HUMAN Homo sapiens adenosylhomocysteinase (AHCY), transcript variant 1, mRNA. 165 methylation|xenobiotic metabolic process cytosol|melanosome adenosylhomocysteinase activity|protein binding endometrium(6)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 19 ATCATCTTGTAGAGGTTGTGGA 0.564000 122 7 0 0 0.004672 0 0 H2AFY2 55506 broad.mit.edu 37 10 71835480 71835480 + Silent SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr10:71835480C>T uc001jqm.3 + 1 525 c.66C>T c.(64-66)atC>atT p.I22I NM_018649 NP_061119 Q9P0M6 H2AW_HUMAN Homo sapiens H2A histone family, member Y2 (H2AFY2), mRNA. 22 Histone H2A. chromatin modification|dosage compensation|nucleosome assembly Barr body|nucleosome DNA binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(4)|skin(1) 15 CAGGTGTCATCTTTCCAGTGG 0.552000 58 7 0 0 0.003080 0 0 ADAM12 8038 broad.mit.edu 37 10 127760074 127760074 + Missense_Mutation SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr10:127760074C>T uc001ljk.2 - 11 1717 c.1304G>A c.(1303-1305)gGa>gAa p.G435E ADAM12_uc010qul.1_Missense_Mutation_p.G386E|ADAM12_uc001ljm.3_Missense_Mutation_p.G435E|ADAM12_uc001ljn.3_Missense_Mutation_p.G432E|ADAM12_uc001ljl.4_Missense_Mutation_p.G432E NM_003474 NP_003465 O43184 ADA12_HUMAN Homo sapiens ADAM metallopeptidase domain 12 (ADAM12), transcript variant 1, mRNA. 435 Disintegrin. cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis extracellular region|integral to membrane|plasma membrane SH3 domain binding|metalloendopeptidase activity|protein binding|zinc ion binding biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22) COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216) ACACTCCTCTCCTTCTTCCAC 0.522000 121 10 0 0 0.010729 0 0 LPAR2 9170 broad.mit.edu 37 19 19738063 19738063 + Missense_Mutation SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr19:19738063C>T uc002nnb.4 - 1 170 c.31G>A c.(31-33)Gag>Aag p.E11K LPAR2_uc002nna.4_Missense_Mutation_p.E11K|LPAR2_uc002nnc.4_Missense_Mutation_p.E11K NM_004720 NP_004711 Q9HBW0 LPAR2_HUMAN Homo sapiens lysophosphatidic acid receptor 2 (LPAR2), mRNA. 11 activation of phospholipase C activity|elevation of cytosolic calcium ion concentration cell surface|integral to plasma membrane LIM domain binding|lipid binding breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1) 10 CCGATGGTCTCGTTGTAGTAG 0.582000 105 7 0 0 0.004482 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144867988 144867988 + Silent SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr1:144867988C>T uc021ouh.1 - 32 5753 c.5451G>A c.(5449-5451)caG>caA p.Q1817Q NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Silent_p.Q1817Q|PDE4DIP_uc001elx.4_Silent_p.Q1711Q|PDE4DIP_uc001elv.4_Silent_p.Q824Q|PDE4DIP_uc001ema.3_Silent_p.Q4Q NM_001198834 NP_001185763 Q5VU43 MYOME_HUMAN Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA. 1817 cellular protein complex assembly Golgi apparatus|centrosome|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) CACTCCCTTTCTGAGGCCTCA 0.547000 T PDGFRB MPD 380 10 0 0 0.006214 0 0 THEMIS 387357 broad.mit.edu 37 6 128134948 128134948 + Missense_Mutation SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr6:128134948C>T uc011ebt.2 - 3 987 c.838G>A c.(838-840)Gag>Aag p.E280K THEMIS_uc010kfa.3_Missense_Mutation_p.E183K|THEMIS_uc021zfa.1_Missense_Mutation_p.E280K|THEMIS_uc010kfb.3_Missense_Mutation_p.E245K NM_001164685 NP_001158157 Q8N1K5 THMS1_HUMAN Homo sapiens thymocyte selection associated (THEMIS), transcript variant 1, mRNA. 280 CABIT 2. T cell receptor signaling pathway|negative T cell selection|positive T cell selection cytoplasm|nucleus breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3) 60 ATGGGGAACTCTTTACTAGTC 0.408000 111 6 0 0 0.001984 0 0 TIPRL 261726 broad.mit.edu 37 1 168153168 168153168 + Missense_Mutation SNP C G G TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr1:168153168C>G uc001gfg.3 + 1 278 c.133C>G c.(133-135)Ctc>Gtc p.L45V TIPRL_uc001gff.3_Missense_Mutation_p.L45V NM_152902 NP_690866 O75663 TIPRL_HUMAN Homo sapiens TIP41, TOR signaling pathway regulator-like (S. cerevisiae) (TIPRL), transcript variant 1, mRNA. 45 DNA damage checkpoint|negative regulation of protein phosphatase type 2A activity cytoplasm protein binding breast(1)|kidney(1)|large_intestine(1)|ovary(2)|skin(1) 6 all_hematologic(923;0.215) TATGCCATCTCTCCCTGAAAT 0.383000 74 4 0 0 0.009096 0 0 DNAH3 55567 broad.mit.edu 37 16 21073838 21073838 + Missense_Mutation SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr16:21073838G>A uc010vbe.2 - 24 3685 c.3685C>T c.(3685-3687)Cca>Tca p.P1229S NM_017539 NP_060009 Q8TD57 DYH3_HUMAN Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA. 1229 Stem (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) TGTATGAATGGAACAGTTTCT 0.423000 88 5 0 0 0.021553 0 0 DGKG 1608 broad.mit.edu 37 3 186006599 186006599 + Silent SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr3:186006599G>A uc003fqa.3 - 5 981 c.444C>T c.(442-444)gtC>gtT p.V148V DGKG_uc003fqb.3_Silent_p.V148V|DGKG_uc003fqc.3_Silent_p.V148V|DGKG_uc011brx.2_Silent_p.V148V NM_001346 NP_001337 P49619 DGKG_HUMAN Homo sapiens diacylglycerol kinase, gamma 90kDa (DGKG), transcript variant 1, mRNA. 148 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 42 all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) GBM - Glioblastoma multiforme(93;0.0657) Phosphatidylserine(DB00144) AAGACCGAGGGACGGGGGGTT 0.552000 308 16 0 0 0.006122 0 0 EGFLAM 133584 broad.mit.edu 37 5 38427349 38427349 + Silent SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr5:38427349C>T uc003jlc.2 + 13 2395 c.2049C>T c.(2047-2049)gtC>gtT p.V683V EGFLAM_uc003jlb.2_Silent_p.V683V|EGFLAM_uc003jle.2_Silent_p.V449V|EGFLAM_uc003jlf.2_Silent_p.V49V NM_001205301 NP_001192230 Q63HQ2 EGFLA_HUMAN Homo sapiens EGF-like, fibronectin type III and laminin G domains (EGFLAM), transcript variant 5, mRNA. 683 Laminin G-like 2. cell junction|proteinaceous extracellular matrix|synapse NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 85 all_lung(31;0.000385) GGACCGGTGTCCTCAGGTGAG 0.502000 179 10 0 0 0.010729 0 0 CASP8AP2 9994 broad.mit.edu 37 6 90572225 90572225 + Nonsense_Mutation SNP T A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr6:90572225T>A uc003pnr.3 + 6 993 c.797T>A c.(796-798)tTa>tAa p.L266* CASP8AP2_uc003pns.2_Intron|CASP8AP2_uc003pnt.3_Nonsense_Mutation_p.L266*|CASP8AP2_uc011dzz.2_Nonsense_Mutation_p.L266* NM_001137667 NP_001131139 Q9UKL3 C8AP2_HUMAN Homo sapiens caspase 8 associated protein 2 (CASP8AP2), transcript variant 2, mRNA. 266 cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent cytoplasm|nucleus caspase activator activity|death receptor binding|transcription corepressor activity NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2) 51 all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238) BRCA - Breast invasive adenocarcinoma(108;0.0953) CGAAAAGACTTAAGTACTGGC 0.423000 193 6 0 0 0.021553 0 0 SLC38A4 55089 broad.mit.edu 37 12 47173410 47173410 + Missense_Mutation SNP A T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr12:47173410A>T uc001rpi.2 - 9 1100 c.701T>A c.(700-702)gTg>gAg p.V234E SLC38A4_uc001rpj.2_Missense_Mutation_p.V234E|SLC38A4_uc009zkl.2_Missense_Mutation_p.V234E NM_018018 NP_060488 Q969I6 S38A4_HUMAN Homo sapiens solute carrier family 38, member 4 (SLC38A4), transcript variant 1, mRNA. 234 cellular nitrogen compound metabolic process|sodium ion transport integral to membrane|plasma membrane amino acid transmembrane transporter activity|symporter activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1) 21 Lung SC(27;0.192)|Renal(347;0.236) AACAAAAAACACCATGCAGGT 0.378000 87 6 0 0 0.021553 0 0 ESRRB 2103 broad.mit.edu 37 14 76948948 76948948 + Silent SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr14:76948948G>A uc001xsr.3 + 6 1004 c.633G>A c.(631-633)aaG>aaA p.K211K ESRRB_uc001xso.3_Non-coding_Transcript|ESRRB_uc001xsq.1_Silent_p.K211K NM_004452 NP_004443 A2VDJ2 A2VDJ2_HUMAN Homo sapiens estrogen-related receptor beta (ESRRB), mRNA. 211 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 24 BRCA - Breast invasive adenocarcinoma(234;0.0213) CAGTGACCAAGATTGTCTCAT 0.557000 46 5 0 0 0.001984 0 0 GHDC 84514 broad.mit.edu 37 17 40343146 40343146 + Silent SNP G T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr17:40343146G>T uc002hzd.3 - 4 1456 c.972C>A c.(970-972)ctC>ctA p.L324L GHDC_uc002hzg.2_Silent_p.L324L|GHDC_uc010wgg.2_Silent_p.L285L|GHDC_uc002hze.4_Silent_p.L324L|GHDC_uc002hzf.4_Silent_p.L324L NM_032484 NP_115873 Q8N2G8 GHDC_HUMAN Homo sapiens GH3 domain containing (GHDC), transcript variant 1, mRNA. 324 endoplasmic reticulum|nuclear envelope central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304) BRCA - Breast invasive adenocarcinoma(366;0.124) CCTTGACTGGGAGCAGCTCGA 0.637000 82 7 0.00448238 0.0046213 0.004482 1 0 TCRVA15 0 broad.mit.edu 37 14 22217916 22217916 + Silent SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr14:22217916G>A uc010aiq.1 + 1 346 c.267G>A c.(265-267)aaG>aaA p.K89K TRA_uc021rpa.1_Intron|TCRVA15_uc010aip.1_Silent_p.K85K Homo sapiens mRNA for T cell receptor alpha variable 5, partial cds, clone: SEB 96. TGAATAAAAAGGATAAACATC 0.433000 53 4 0 0 0.009096 0 0 FILIP1 27145 broad.mit.edu 37 6 76024879 76024879 + Silent SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr6:76024879G>A uc010kbe.3 - 5 1208 c.678C>T c.(676-678)gcC>gcT p.A226A FILIP1_uc003phy.1_Silent_p.A223A|FILIP1_uc003phz.3_Silent_p.A124A|FILIP1_uc003pia.3_Silent_p.A223A|FILIP1_uc003pib.1_5'UTR NM_015687 NP_056502 Q7Z7B0 FLIP1_HUMAN Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA. 223 breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4) 80 TTTCTTTGCGGGCTTGATAAG 0.338000 46 5 0 0 0.014758 0 0 SCN1A 6323 broad.mit.edu 37 2 166848405 166848405 + Missense_Mutation SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr2:166848405C>T uc002udo.4 - 27 5607 c.5380G>A c.(5380-5382)Gaa>Aaa p.E1794K SCN1A_uc010fpk.3_Missense_Mutation_p.E1766K|SCN1A_uc021vsb.1_Missense_Mutation_p.E1783K NM_001202435 NP_001189364 P35498 SCN1A_HUMAN Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA. 1794 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) GCACTTTCTTCAGTAGCAACA 0.418000 95 7 0 0 0.001984 0 0 GRIN2B 2904 broad.mit.edu 37 12 13716761 13716761 + Silent SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr12:13716761G>A uc001rbt.2 - 12 3590 c.3411C>T c.(3409-3411)ttC>ttT p.F1137F NM_000834 NP_000825 Q13224 NMDE2_HUMAN Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA. 1137 response to ethanol N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding p.F1137L(2) NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) CCTTTGTTCGGAACTGGTCCA 0.602000 48 8 0 0 0.004482 0 0 FAM47C 442444 broad.mit.edu 37 X 37027685 37027685 + Missense_Mutation SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chrX:37027685C>T uc004ddl.2 + 0 1254 c.1202C>T c.(1201-1203)cCt>cTt p.P401L NM_001013736 NP_001013758 Q5HY64 FA47C_HUMAN Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA. 401 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 GGAGTGTCTCCTCTCTTCCCG 0.617000 32 4 0 0 0.021553 0 0 DYNC1I1 1780 broad.mit.edu 37 7 95616402 95616402 + Missense_Mutation SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr7:95616402C>T uc003uoc.4 + 8 1106 c.829C>T c.(829-831)Cgt>Tgt p.R277C DYNC1I1_uc003uod.4_Missense_Mutation_p.R260C|DYNC1I1_uc003uob.3_Missense_Mutation_p.R240C|DYNC1I1_uc003uoe.4_Missense_Mutation_p.R257C|DYNC1I1_uc010lfl.3_Missense_Mutation_p.R266C NM_004411 NP_004402 O14576 DC1I1_HUMAN Homo sapiens dynein, cytoplasmic 1, intermediate chain 1 (DYNC1I1), transcript variant 1, mRNA. 277 vesicle transport along microtubule condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle microtubule binding|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 54 all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191) STAD - Stomach adenocarcinoma(171;0.0957) TTCTTTCAATCGTCAGTTCTA 0.448000 261 8 0 0 0.003080 0 0 KIAA2022 340533 broad.mit.edu 37 X 73964093 73964093 + Missense_Mutation SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chrX:73964093G>A uc004eby.3 - 2 916 c.299C>T c.(298-300)tCc>tTc p.S100F NM_001008537 NP_001008537 Q5QGS0 K2022_HUMAN Homo sapiens KIAA2022 (KIAA2022), mRNA. 100 DNA replication proofreading|DNA replication, removal of RNA primer|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 109 AGATGTGAGGGAGATGGCATT 0.512000 49 4 0 0 0.009096 0 0 RINT1 60561 broad.mit.edu 37 7 105183011 105183011 + Missense_Mutation SNP G A A rs139214585 by1000genomes TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr7:105183011G>A uc003vda.1 + 3 661 c.430G>A c.(430-432)Gat>Aat p.D144N RINT1_uc010ljj.1_Intron NM_021930 NP_068749 Q6NUQ1 RINT1_HUMAN Homo sapiens RAD50 interactor 1 (RINT1), mRNA. 144 G2/M transition DNA damage checkpoint|cell cycle|protein transport|vesicle-mediated transport endoplasmic reticulum membrane protein binding central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 TTGGATGGACGATCTTGGAAC 0.413000 76 5 0 0 0.001984 0 0 PCDH11Y 83259 broad.mit.edu 37 Y 4925237 4925237 + Missense_Mutation SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chrY:4925237C>T uc004fqo.3 + 0 1107 c.373C>T c.(373-375)Cgt>Tgt p.R125C PCDH11Y_uc010nwg.1_Missense_Mutation_p.R114C|PCDH11Y_uc004fql.1_Missense_Mutation_p.R114C|PCDH11Y_uc004fqm.1_Missense_Mutation_p.R114C|PCDH11Y_uc004fqn.1_Missense_Mutation_p.R125C NM_032973 NP_116755 Q9BZA8 PC11Y_HUMAN Homo sapiens protocadherin 11 Y-linked (PCDH11Y), transcript variant c, mRNA. 125 Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 TCGCATTGATCGTGAGAAATT 0.443000 79 9 0 0 0.006214 0 0 SLC30A8 169026 broad.mit.edu 37 8 118159306 118159306 + Missense_Mutation SNP A T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr8:118159306A>T uc003yoh.3 + 1 415 c.185A>T c.(184-186)aAg>aTg p.K62M SLC30A8_uc010mcz.3_Missense_Mutation_p.K13M|SLC30A8_uc003yog.3_Missense_Mutation_p.K13M|SLC30A8_uc011lia.2_Missense_Mutation_p.K13M|SLC30A8_uc022bab.1_Missense_Mutation_p.K13M NM_173851 NP_001166286 Q8IWU4 ZNT8_HUMAN Homo sapiens solute carrier family 30 (zinc transporter), member 8 (SLC30A8), transcript variant 1, mRNA. 62 insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane protein homodimerization activity|zinc ion transmembrane transporter activity breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5) 41 all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173) STAD - Stomach adenocarcinoma(47;0.203) CCCACAGAAAAGGGGGCGAAT 0.512000 449 20 0 0 0.008871 0 0 BEST3 144453 broad.mit.edu 37 12 70049365 70049365 + Silent SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr12:70049365G>A uc001svg.3 - 9 1556 c.1329C>T c.(1327-1329)ccC>ccT p.P443P BEST3_uc001svd.2_Intron|BEST3_uc001svf.3_Silent_p.P230P|BEST3_uc010stm.2_Silent_p.P337P NM_032735 NP_116124 Q8N1M1 BEST3_HUMAN Homo sapiens bestrophin 3 (BEST3), transcript variant 1, mRNA. 443 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) AGGCCCTGGGGGGGTTTCTTG 0.592000 90 5 0 0 0.014758 0 0 PGA5 5222 broad.mit.edu 37 11 61015892 61015892 + Splice_Site SNP G A A rs147049038 byFrequency TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr11:61015892G>A uc001nqz.3 + 6 712 c.657_splice c.e6-1 p.A219_splice NM_014224 NP_055039 P00790 PEPA_HUMAN Homo sapiens pepsinogen 5, group I (pepsinogen A) (PGA5), mRNA. 219 digestion|proteolysis extracellular region aspartic-type endopeptidase activity large_intestine(1)|skin(1) 2 TTTCCACAGCGATGACAAGAG 0.498000 373 10 0 0 0.010729 0 0 SMTNL2 342527 broad.mit.edu 37 17 4496341 4496341 + Missense_Mutation SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr17:4496341G>A uc002fyf.1 + 2 672 c.605G>A c.(604-606)cGa>cAa p.R202Q SMTNL2_uc002fye.2_Missense_Mutation_p.R58Q NM_001114974 NP_940903 Q2TAL5 SMTL2_HUMAN Homo sapiens smoothelin-like 2 (SMTNL2), transcript variant 1, mRNA. 202 breast(1)|endometrium(9)|kidney(1)|lung(1)|skin(1) 13 READ - Rectum adenocarcinoma(115;0.0325) GCCATCACCCGAGTCTCTGAC 0.637000 47 7 0 0 0.003080 0 0 ADAMTS4 9507 broad.mit.edu 37 1 161166530 161166530 + Silent SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr1:161166530G>A uc001fyt.4 - 1 1202 c.774C>T c.(772-774)atC>atT p.I258I ADAMTS4_uc001fyu.2_Silent_p.I258I|NDUFS2_uc001fyv.3_5'Flank NM_005099 NP_005090 O75173 ATS4_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 4 (ADAMTS4), mRNA. 258 Peptidase M12B. proteolysis|skeletal system development extracellular space|proteinaceous extracellular matrix metalloendopeptidase activity|protease binding|zinc ion binding central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1) 43 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) CAGGATTGCGGATGCTTGGGT 0.627000 130 5 0 0 0.014758 0 0 KCNH1 3756 broad.mit.edu 37 1 210856890 210856890 + Silent SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr1:210856890C>T uc001hib.2 - 10 2873 c.2703G>A c.(2701-2703)caG>caA p.Q901Q KCNH1_uc001hic.2_Silent_p.Q874Q NM_172362 NP_758872 O95259 KCNH1_HUMAN Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 1 (KCNH1), transcript variant 1, mRNA. 901 myoblast fusion|regulation of transcription, DNA-dependent voltage-gated potassium channel complex calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185) GACTCCGATCCTGGGGACTCC 0.612000 39 5 0 0 0.014758 0 0 SPAG1 6674 broad.mit.edu 37 8 101243516 101243516 + Splice_Site SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr8:101243516G>A uc003yjh.2 + 15 2074 c.1988_splice c.e15+1 p.R663_splice SPAG1_uc003yji.2_Splice_Site_p.R663_splice NM_172218 NP_757367 Q07617 SPAG1_HUMAN Homo sapiens sperm associated antigen 1 (SPAG1), transcript variant 2, mRNA. 663 single fertilization cytoplasm GTP binding|hydrolase activity central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 30 all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823) Breast(495;0.195) Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525) KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236) TATACAAACAGGCAAGTTCTT 0.254000 78 6 0 0 0.021553 0 0 DIDO1 11083 broad.mit.edu 37 20 61537302 61537302 + Missense_Mutation SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr20:61537302G>A uc002ydr.2 - 5 1837 c.1525C>T c.(1525-1527)Cac>Tac p.H509Y DIDO1_uc002yds.2_Missense_Mutation_p.H509Y|DIDO1_uc002ydt.2_Missense_Mutation_p.H509Y|DIDO1_uc002ydu.2_Missense_Mutation_p.H509Y|DIDO1_uc002ydv.2_Missense_Mutation_p.H509Y|DIDO1_uc002ydw.2_Missense_Mutation_p.H509Y|DIDO1_uc002ydx.2_Missense_Mutation_p.H509Y|DIDO1_uc011aao.1_Missense_Mutation_p.H509Y NM_001193369 NP_149072 Q9BTC0 DIDO1_HUMAN Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA. 509 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 99 Breast(26;5.68e-08) TTGTAATTGTGATCGCTCGCC 0.557000 159 6 0 0 0.021553 0 0 MUC17 140453 broad.mit.edu 37 7 100682054 100682054 + Missense_Mutation SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr7:100682054G>A uc003uxp.1 + 2 7410 c.7357G>A c.(7357-7359)Gaa>Aaa p.E2453K MUC17_uc010lho.1_Non-coding_Transcript NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN Homo sapiens mucin 17, cell surface associated (MUC17), mRNA. 2453 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) ACCTCCTAGTGAAGGAACCAC 0.537000 364 18 0 0 0.006122 0 0 TNN 63923 broad.mit.edu 37 1 175113579 175113579 + Missense_Mutation SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr1:175113579G>A uc001gkl.1 + 17 3765 c.3652G>A c.(3652-3654)Gat>Aat p.D1218N NM_022093 NP_071376 Q9UQP3 TENN_HUMAN Homo sapiens tenascin N (TNN), mRNA. 1218 Fibrinogen C-terminal. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 156 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) CAGAGACAATGATATCGCACT 0.512000 89 5 0 0 0.021553 0 0 SHANK3 85358 broad.mit.edu 37 22 51159572 51159572 + Missense_Mutation SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr22:51159572C>T uc003bne.1 + 21 3359 c.3359C>T c.(3358-3360)cCc>cTc p.P1120L SHANK3_uc003bnf.1_Missense_Mutation_p.P567L NM_001080420 NP_001073889 F2Z3L0 F2Z3L0_HUMAN Homo sapiens SH3 and multiple ankyrin repeat domains 3 (SHANK3), mRNA. 1120 central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5) 8 all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178) BRCA - Breast invasive adenocarcinoma(115;0.22) CCCCTGGACCCCAGCTCACCC 0.726000 11 4 0 0 0.014758 0 0 ADAM21P1 145241 broad.mit.edu 37 14 70712585 70712585 + Missense_Mutation SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr14:70712585C>T uc010ttg.2 - 0 1934 c.1283G>A c.(1282-1284)aGg>aAg p.R428K Homo sapiens ADAM metallopeptidase domain 21 pseudogene 1 (ADAM21P1), non-coding RNA. TATGTGCATCCTTAAATGATA 0.438000 64 6 0 0 0.021553 0 0 DZIP1L 199221 broad.mit.edu 37 3 137790621 137790621 + Silent SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr3:137790621G>A uc003erq.3 - 11 1842 c.1479C>T c.(1477-1479)gtC>gtT p.V493V DZIP1L_uc003err.1_Silent_p.V493V NM_173543 NP_775814 Q8IYY4 DZI1L_HUMAN Homo sapiens DAZ interacting protein 1-like (DZIP1L), transcript variant 1, mRNA. 493 intracellular zinc ion binding breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1) 35 GCTCCCGCTGGACTCTCAGCA 0.517000 196 10 0 0 0.008291 0 0 SPATA8 145946 broad.mit.edu 37 15 97328248 97328248 + Silent SNP G A A rs145348357 TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr15:97328248G>A uc002bue.3 + 2 426 c.219G>A c.(217-219)agG>agA p.R73R DQ576557_uc010urp.2_5'Flank|DQ593900_uc021sxe.1_5'Flank|DQ594674_uc021sxf.1_5'Flank|DQ599954_uc002bud.2_5'Flank NM_173499 NP_775770 Q6RVD6 SPAT8_HUMAN Homo sapiens spermatogenesis associated 8 (SPATA8), mRNA. 73 p.R73R(2)|p.R73K(1) large_intestine(4)|lung(8)|ovary(1)|skin(3) 16 Melanoma(26;0.0142)|Lung NSC(78;0.041)|all_lung(78;0.0468) OV - Ovarian serous cystadenocarcinoma(32;0.0718) CTCACGGAAGGATCCAAAGGG 0.453000 115 5 0 0 0.021553 0 0 MMD2 221938 broad.mit.edu 37 7 4965083 4965083 + Splice_Site SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr7:4965083G>A uc003sno.4 - 2 325 c.129_splice c.e2+1 p.A43_splice MMD2_uc003snl.1_Splice_Site|MMD2_uc003snn.4_Splice_Site_p.A43_splice|MMD2_uc010ksq.3_Splice_Site_p.A43_splice NM_001100600 NP_001094070 Q8IY49 PAQRA_HUMAN Homo sapiens monocyte to macrophage differentiation-associated 2 (MMD2), transcript variant 1, mRNA. 43 integral to membrane receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(11) 14 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.097)|OV - Ovarian serous cystadenocarcinoma(56;3.4e-14) CCAACTCACAGCATGGGTGGC 0.587000 113 6 0 0 0.001984 0 0 KCNK9 51305 broad.mit.edu 37 8 140630564 140630564 + Silent SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr8:140630564G>A uc003yvf.1 - 1 1126 c.1062C>T c.(1060-1062)atC>atT p.I354I KCNK9_uc003yvg.1_Silent_p.I354I|KCNK9_uc003yve.1_Non-coding_Transcript NM_016601 NP_057685 Q9NPC2 KCNK9_HUMAN Homo sapiens potassium channel, subfamily K, member 9 (KCNK9), mRNA. 354 integral to membrane|membrane fraction potassium channel activity|voltage-gated ion channel activity NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1) 43 all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155) Ovarian(118;0.134) BRCA - Breast invasive adenocarcinoma(115;0.0855) ACCCAGGAGAGATGGAGCTAA 0.502000 112 5 0 0 0.021553 0 0 CRB2 286204 broad.mit.edu 37 9 126132728 126132728 + Missense_Mutation SNP C T T rs138891622 TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr9:126132728C>T uc004bnx.1 + 6 1488 c.1396C>T c.(1396-1398)Cgc>Tgc p.R466C CRB2_uc004bnw.1_Missense_Mutation_p.R466C NM_173689 NP_775960 Q5IJ48 CRUM2_HUMAN Homo sapiens crumbs homolog 2 (Drosophila) (CRB2), mRNA. 466 Laminin G-like 1. extracellular region|integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3) 23 ACTGAGGTTTCGCACCACACT 0.607000 27 4 0 0 0.009096 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140725269 140725269 + Missense_Mutation SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr5:140725269G>A uc003ljm.2 + 0 1669 c.1669G>A c.(1669-1671)Gac>Aac p.D557N PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc011dap.2_Missense_Mutation_p.D557N NM_018916 NP_061739 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily A, 3 (PCDHGA3), transcript variant 1, mRNA. 559 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGACCAGAACGACAACGCGCC 0.622000 175 8 0 0 0.004482 0 0 SCN10A 6336 broad.mit.edu 37 3 38743472 38743472 + Silent SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr3:38743472C>T uc003ciq.3 - 25 4515 c.4515G>A c.(4513-4515)acG>acA p.T1505T NM_006514 NP_006505 Q9Y5Y9 SCNAA_HUMAN Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA. 1505 sensory perception voltage-gated sodium channel complex p.T1505T(2) NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) CCAGAATTTTCGTCTTTTCTT 0.453000 66 5 0 0 0.021553 0 0 MUC16 94025 broad.mit.edu 37 19 9087697 9087697 + Missense_Mutation SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr19:9087697G>A uc002mkp.3 - 0 4322 c.4118C>T c.(4117-4119)tCa>tTa p.S1373L NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 1373 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GAGATTGGGTGAACTTGAGAT 0.468000 102 6 0 0 0.001984 0 0 NTRK2 4915 broad.mit.edu 37 9 87359971 87359971 + Missense_Mutation SNP G A A rs142393662 TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr9:87359971G>A uc004aoa.1 + 12 2217 c.1279G>A c.(1279-1281)Ggt>Agt p.G427S NTRK2_uc004anv.1_Missense_Mutation_p.G414S|NTRK2_uc004any.1_Missense_Mutation_p.G427S|NTRK2_uc004anz.1_Missense_Mutation_p.G427S|NTRK2_uc004aob.1_Missense_Mutation_p.G427S|NTRK2_uc011lsz.2_Missense_Mutation_p.G427S|NTRK2_uc011lta.2_Missense_Mutation_p.G427S|NTRK2_uc011ltb.1_Missense_Mutation_p.G271S NM_001018064 NP_001018074 Q16620 NTRK2_HUMAN Homo sapiens neurotrophic tyrosine kinase, receptor, type 2 (NTRK2), transcript variant c, mRNA. 427 activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development integral to plasma membrane ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 46 TGATAAAACCGGTCGGGAACA 0.458000 TSP Lung(25;0.17) 88 5 0 0 0.014758 0 0 MYH2 4620 broad.mit.edu 37 17 10432356 10432356 + Missense_Mutation SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr17:10432356C>T uc010coi.3 - 26 3523 c.3395G>A c.(3394-3396)cGg>cAg p.R1132Q AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.R1132Q|MYH2_uc010coj.3_Intron NM_001100112 NP_060004 Q9UKX2 MYH2_HUMAN Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA. 1132 muscle filament sliding muscle myosin complex|myosin filament|sarcomere ATP binding|actin 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 CCGGGAGGCCCGCTCTGCCTC 0.602000 55 5 0 0 0.021553 0 0 IZUMO1 284359 broad.mit.edu 37 19 49249038 49249038 + Missense_Mutation SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr19:49249038G>A uc002pkj.3 - 1 627 c.79C>T c.(79-81)Ccg>Tcg p.P27S IZUMO1_uc010eme.3_Non-coding_Transcript|IZUMO1_uc010emf.3_Non-coding_Transcript NM_182575 NP_872381 Q8IYV9 IZUM1_HUMAN Homo sapiens izumo sperm-egg fusion 1 (IZUMO1), mRNA. 27 fusion of sperm to egg plasma membrane integral to membrane endometrium(4)|kidney(3)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 17 all_lung(116;0.000156)|Lung NSC(112;0.000251)|all_epithelial(76;0.000761)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022) ACGACAGACGGGTCACATATA 0.587000 105 9 0 0 0.006214 0 0 GALNTL1 57452 broad.mit.edu 37 14 69792741 69792741 + Missense_Mutation SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr14:69792741G>A uc001xlb.2 + 4 892 c.565G>A c.(565-567)Gaa>Aaa p.E189K GALNTL1_uc001xla.2_Missense_Mutation_p.E189K|GALNTL1_uc010aqu.2_Missense_Mutation_p.E189K NM_020692 NP_065743 Q8N428 GLTL1_HUMAN Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 1 (GALNTL1), transcript variant 2, mRNA. 189 Catalytic subdomain A. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|ovary(1)|stomach(2) 24 all cancers(60;0.00793)|BRCA - Breast invasive adenocarcinoma(234;0.0174)|OV - Ovarian serous cystadenocarcinoma(108;0.0656) TGATCGGCGGGAAGGTGAGTC 0.572000 55 7 0 0 0.001984 0 0 CSNK1E 1454 broad.mit.edu 37 22 38696918 38696918 + Missense_Mutation SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr22:38696918G>A uc003avj.3 - 4 637 c.376C>T c.(376-378)Cac>Tac p.H126Y CSNK1E_uc003avk.3_Missense_Mutation_p.H126Y|CSNK1E_uc003avm.2_Missense_Mutation_p.H126Y NM_152221 NP_689407 P49674 KC1E_HUMAN Homo sapiens casein kinase 1, epsilon (CSNK1E), transcript variant 1, mRNA. 126 Protein kinase. DNA repair|G2/M transition of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|signal transduction cytosol|nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 22 Melanoma(58;0.045) ACGTCCCGGTGGATGAAGTTC 0.597000 65 7 0 0 0.003080 0 0 PDE1C 5137 broad.mit.edu 37 7 31918640 31918640 + Missense_Mutation SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr7:31918640G>A uc003tcm.2 - 3 855 c.394C>T c.(394-396)Cac>Tac p.H132Y PDE1C_uc003tcn.1_Missense_Mutation_p.H132Y|PDE1C_uc003tco.2_Missense_Mutation_p.H192Y|PDE1C_uc003tcr.3_Missense_Mutation_p.H132Y|PDE1C_uc003tcs.3_Missense_Mutation_p.H132Y NM_001191057 NP_001177988 Q14123 PDE1C_HUMAN Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 2, mRNA. 132 activation of phospholipase C activity|nerve growth factor receptor signaling pathway cytosol calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding p.H132H(1) NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 81 GBM - Glioblastoma multiforme(11;0.216) TGCACTGCGTGAACGATGCTC 0.527000 98 6 0 0 0.001984 0 0 FBXL21 26223 broad.mit.edu 37 5 135273237 135273237 + Splice_Site SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr5:135273237G>A uc021ydv.1 + 6 c.971_splice c.e6+1 FBXL21_uc003lbc.3_Splice_Site|FBXL21_uc021ydw.1_Splice_Site|FBXL21_uc021ydx.1_Splice_Site NM_012159 Q9UKT6 FXL21_HUMAN Homo sapiens F-box and leucine-rich repeat protein 21 (gene/pseudogene) (FBXL21), mRNA. rhythmic process ubiquitin ligase complex ubiquitin-protein ligase activity large_intestine(5)|lung(4) 9 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) TGTGTCGGAGGTAAGGATATT 0.413000 93 5 0 0 0.014758 0 0 RCL1 10171 broad.mit.edu 37 9 4826886 4826886 + Silent SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr9:4826886C>T uc003zis.2 + 2 495 c.237C>T c.(235-237)ctC>ctT p.L79L NM_005772 NP_005763 Q9Y2P8 RCL1_HUMAN Homo sapiens RNA terminal phosphate cyclase-like 1 (RCL1), mRNA. 79 RNA processing|ribosome biogenesis nucleolus RNA-3'-phosphate cyclase activity breast(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 9 all_hematologic(13;0.137) Acute lymphoblastic leukemia(23;0.0206)|Breast(48;0.147) GBM - Glioblastoma multiforme(50;0.0244) AGCCTGGCCTCCTGTATGGTG 0.438000 190 12 0 0 0.010729 0 0 DGCR8 54487 broad.mit.edu 37 22 20074158 20074158 + Silent SNP C T T rs139146240 TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr22:20074158C>T uc002zri.3 + 1 1101 c.672C>T c.(670-672)atC>atT p.I224I DGCR8_uc010grz.3_Silent_p.I224I|DGCR8_uc002zrj.3_5'Flank NM_022720 NP_073557 Q8WYQ5 DGCR8_HUMAN Homo sapiens DiGeorge syndrome critical region gene 8 (DGCR8), transcript variant 1, mRNA. 224 Necessary for interaction with NCL.|Necessary for nuclear localization and retention. primary miRNA processing cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm double-stranded RNA binding|metal ion binding|protein binding NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 22 Colorectal(54;0.0993) CTAAAGCAATCGTTCAGAGAG 0.478000 129 8 0 0 0.003080 0 0 NR0B1 190 broad.mit.edu 37 X 30322750 30322750 + Silent SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chrX:30322750G>A uc004dcf.4 - 1 1374 c.1359C>T c.(1357-1359)atC>atT p.I453I NM_000475 NP_000466 P51843 NR0B1_HUMAN Homo sapiens nuclear receptor subfamily 0, group B, member 1 (NR0B1), mRNA. 453 Ligand-binding (By similarity). adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome AF-2 domain binding|DNA hairpin binding|RNA binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2) 24 Dexamethasone(DB01234)|Tretinoin(DB00755) TGACTGTGCCGATGATGGGCC 0.458000 61 7 0 0 0.001984 0 0 FCRL3 115352 broad.mit.edu 37 1 157665245 157665245 + Missense_Mutation SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr1:157665245C>T uc001fqz.4 - 7 1577 c.1285G>A c.(1285-1287)Gcc>Acc p.A429T FCRL3_uc001fqx.4_Non-coding_Transcript|FCRL3_uc001fqy.4_Non-coding_Transcript|FCRL3_uc009wsn.3_Non-coding_Transcript|FCRL3_uc009wso.3_Non-coding_Transcript|FCRL3_uc001fra.3_Missense_Mutation_p.A155T|FCRL3_uc001frb.3_Missense_Mutation_p.A429T|FCRL3_uc001frc.1_Missense_Mutation_p.A429T NM_052939 NP_443171 Q96P31 FCRL3_HUMAN Homo sapiens Fc receptor-like 3 (FCRL3), mRNA. 429 Ig-like C2-type 5. integral to membrane|plasma membrane receptor activity autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2) 69 all_hematologic(112;0.0378) CCAGAGGGGGCTGAGCTGTTC 0.582000 146 6 0 0 0.021553 0 0 PAK3 5063 broad.mit.edu 37 X 110385365 110385365 + Missense_Mutation SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chrX:110385365C>T uc010npv.1 + 1 244 c.217C>T c.(217-219)Cct>Tct p.P73S PAK3_uc010npt.1_Missense_Mutation_p.P73S|PAK3_uc010npu.1_Missense_Mutation_p.P73S|PAK3_uc004eoy.1_5'UTR|PAK3_uc004eoz.2_Missense_Mutation_p.P73S|PAK3_uc011mst.1_Non-coding_Transcript|PAK3_uc010npw.1_Missense_Mutation_p.P73S|PAK3_uc004epa.2_Missense_Mutation_p.P73S NM_001128168 NP_001121640 O75914 PAK3_HUMAN Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 3 (PAK3), transcript variant 4, mRNA. 73 Autoregulatory region (By similarity).|CRIB.|GTPase-binding (By similarity). P -> S (in Ref. 2). multicellular organismal development ATP binding|SH3 domain binding|metal ion binding|protein serine/threonine kinase activity 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 GATCTCTCTTCCTTCAGACTT 0.413000 TSP Lung(19;0.15) 104 6 0 0 0.001984 0 0 OR6V1 346517 broad.mit.edu 37 7 142749644 142749644 + Silent SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr7:142749644C>T uc011ksv.2 + 0 207 c.207C>T c.(205-207)atC>atT p.I69I NM_001001667 NP_001001667 Q8N148 OR6V1_HUMAN Homo sapiens olfactory receptor, family 6, subfamily V, member 1 (OR6V1), mRNA. 69 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1) 20 Melanoma(164;0.059) TGCTGGAGATCTTGGTAACCA 0.493000 184 7 0 0 0.003080 0 0 NUP210L 91181 broad.mit.edu 37 1 154076521 154076521 + Missense_Mutation SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr1:154076521C>T uc001fdw.3 - 12 1858 c.1786G>A c.(1786-1788)Gat>Aat p.D596N NUP210L_uc009woq.3_5'UTR|NUP210L_uc010peh.2_Missense_Mutation_p.D596N NM_207308 NP_997191 Q5VU65 P210L_HUMAN Homo sapiens nucleoporin 210kDa-like (NUP210L), transcript variant 1, mRNA. 596 integral to membrane NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2) 80 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198) CCTTGTTTATCCATGTTCAGA 0.343000 71 5 0 0 0.014758 0 0 DKK2 27123 broad.mit.edu 37 4 107845819 107845819 + Missense_Mutation SNP G A A rs146683175 by1000genomes TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr4:107845819G>A uc003hyi.3 - 2 1117 c.412C>T c.(412-414)Cac>Tac p.H138Y DKK2_uc010ilw.1_Non-coding_Transcript|DKK2_uc003hyj.1_Missense_Mutation_p.H138Y NM_014421 NP_055236 Q9UBU2 DKK2_HUMAN Homo sapiens dickkopf 2 homolog (Xenopus laevis) (DKK2), mRNA. 138 Wnt receptor signaling pathway|multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway extracellular space autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 32 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;6.34e-06) GCCGGGATGTGAGGGGTTAAG 0.433000 88 7 0 0 0.004482 0 0 BEND2 139105 broad.mit.edu 37 X 18221933 18221933 + Missense_Mutation SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chrX:18221933C>T uc004cyj.4 - 4 749 c.595G>A c.(595-597)Gaa>Aaa p.E199K BEND2_uc010nfb.2_Missense_Mutation_p.E199K NM_153346 NP_699177 Q8NDZ0 BEND2_HUMAN Homo sapiens BEN domain containing 2 (BEND2), transcript variant 1, mRNA. 199 NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1) 49 AGGTCTGCTTCCTGCAGTTCA 0.488000 96 16 0 0 0.024245 0 0 GIMAP1-GIMAP5 100527949 broad.mit.edu 37 7 150439461 150439461 + Silent SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr7:150439461C>T uc022apw.1 + 5 986 c.846C>T c.(844-846)gtC>gtT p.V282V GIMAP1-GIMAP5_uc003whr.2_Silent_p.V78V NM_001199577 NP_001186506 Homo sapiens GIMAP1-GIMAP5 readthrough (GIMAP1-GIMAP5), mRNA. GGAGGAAAGTCCTGGTGGTTG 0.592000 68 5 0 0 0.021553 0 0 ZBTB22 9278 broad.mit.edu 37 6 33284485 33284485 + Missense_Mutation SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr6:33284485G>A uc003oeb.3 - 1 361 c.209C>T c.(208-210)gCt>gTt p.A70V TAPBP_uc003odx.2_5'Flank|TAPBP_uc010jut.2_5'Flank|TAPBP_uc003odz.3_5'Flank|TAPBP_uc003ody.3_5'Flank|TAPBP_uc011drc.2_5'Flank|ZBTB22_uc010juu.3_Missense_Mutation_p.A70V|ZBTB22_uc021ywm.1_Missense_Mutation_p.A70V NM_005453 NP_005444 O15209 ZBT22_HUMAN Homo sapiens zinc finger and BTB domain containing 22 (ZBTB22), transcript variant 1, mRNA. 70 BTB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R69W(1) breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3) 21 AGCCCGATGAGCCCGGAACTC 0.607000 105 7 0 0 0.003080 0 0 LTF 4057 broad.mit.edu 37 3 46487963 46487963 + Missense_Mutation SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr3:46487963G>A uc003cpq.3 - 10 1566 c.1325C>T c.(1324-1326)cCt>cTt p.P442L LTF_uc003fzr.3_Missense_Mutation_p.P398L|LTF_uc010hjh.3_Missense_Mutation_p.P440L|LTF_uc003cpr.3_Missense_Mutation_p.P429L NM_002343 NP_001186078 P02788 TRFL_HUMAN Homo sapiens lactotransferrin (LTF), transcript variant 1, mRNA. 442 Transferrin-like 2. cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport extracellular region|stored secretory granule ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 40 all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089) Pefloxacin(DB00487) GTTAGGATCAGGGTCACTGCT 0.433000 86 4 0 0 0.009096 0 0 PAX4 5078 broad.mit.edu 37 7 127253547 127253547 + Missense_Mutation SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr7:127253547C>T uc010lld.1 - 4 784 c.578G>A c.(577-579)gGa>gAa p.G193E PAX4_uc003vmf.2_Missense_Mutation_p.G191E|PAX4_uc003vmg.1_Missense_Mutation_p.G193E|PAX4_uc003vmh.3_Missense_Mutation_p.G191E NM_006193 NP_006184 O43316 PAX4_HUMAN Homo sapiens paired box 4 (PAX4), mRNA. 201 cell differentiation|endocrine pancreas development|organ morphogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 AGCCAGCTTTCCACGGGCCAC 0.592000 64 4 0 0 0.009096 0 0 MYH2 4620 broad.mit.edu 37 17 10440596 10440596 + Missense_Mutation SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr17:10440596C>T uc010coi.3 - 15 1979 c.1851G>A c.(1849-1851)atG>atA p.M617I AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.M617I|MYH2_uc010coj.3_Missense_Mutation_p.M617I NM_001100112 NP_060004 Q9UKX2 MYH2_HUMAN Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA. 617 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere ATP binding|actin 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 CTAGAGTTTTCATTGCAGACT 0.438000 189 8 0 0 0.004482 0 0 SHROOM2 357 broad.mit.edu 37 X 9900855 9900855 + Missense_Mutation SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chrX:9900855C>T uc004csu.1 + 5 3622 c.3532C>T c.(3532-3534)Ccc>Tcc p.P1178S SHROOM2_uc004csv.2_Missense_Mutation_p.P13S|SHROOM2_uc011mic.1_Missense_Mutation_p.P13S|SHROOM2_uc004csw.1_Missense_Mutation_p.P13S NM_001649 NP_001640 Q13796 SHRM2_HUMAN Homo sapiens shroom family member 2 (SHROOM2), mRNA. 1178 apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization apical plasma membrane|cell-cell adherens junction|microtubule|tight junction actin filament binding|beta-catenin binding|ligand-gated sodium channel activity breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2) 57 Hepatocellular(5;0.000888) CCAGTTCGCCCCCCAGAAACT 0.627000 20 3 0 0 0.004672 0 0 GALR3 8484 broad.mit.edu 37 22 38221146 38221146 + Nonsense_Mutation SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr22:38221146G>A uc003aub.1 + 1 801 c.776G>A c.(775-777)tGg>tAg p.W259* NM_003614 NP_003605 O60755 GALR3_HUMAN Homo sapiens galanin receptor 3 (GALR3), mRNA. 259 feeding behavior|learning or memory|negative regulation of adenylate cyclase activity integral to membrane|plasma membrane galanin receptor activity endometrium(1)|liver(2)|lung(1) 4 Melanoma(58;0.045) CTGTGCTTCTGGTACGGCCGC 0.736000 20 4 0 0 0.009096 0 0 SRPK3 26576 broad.mit.edu 37 X 153050922 153050922 + Missense_Mutation SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chrX:153050922G>A uc004fik.3 + 20 4274 c.1849G>A c.(1849-1851)Gaa>Aaa p.E617K SRPK3_uc004fim.3_Missense_Mutation_p.E517K|SRPK3_uc004fil.3_Missense_Mutation_p.E551K|SRPK3_uc004fin.3_Missense_Mutation_p.E550K|SRPK3_uc010nul.3_Missense_Mutation_p.E475K NM_014370 NP_055185 Q9UPE1 SRPK3_HUMAN Homo sapiens SRSF protein kinase 3 (SRPK3), transcript variant 1, mRNA. 551 cell differentiation|muscle organ development|muscle tissue development ATP binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(2)|pancreas(2)|urinary_tract(1) 13 all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05) GTACATCCCCGAAAAGCGGGC 0.617000 58 4 0 0 0.009096 0 0 SYNE1 23345 broad.mit.edu 37 6 152708213 152708213 + Silent SNP A T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr6:152708213A>T uc021zhb.1 - 51 8704 c.8481T>A c.(8479-8481)gtT>gtA p.V2827V SYNE1_uc003qot.4_Silent_p.V2834V|SYNE1_uc003qou.4_Silent_p.V2827V|SYNE1_uc010kjb.1_Silent_p.V2810V NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA. 2827 Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere actin binding|lamin binding p.V2827G(1) NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TAACCTTGGCAACAGTCATTA 0.348000 HNSCC(10;0.0054) 62 4 0 0 0.009096 0 0 LPHN2 23266 broad.mit.edu 37 1 82447545 82447545 + Missense_Mutation SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr1:82447545C>T uc001dit.4 + 17 3297 c.3116C>T c.(3115-3117)tCc>tTc p.S1039F LPHN2_uc001dis.3_Intron|LPHN2_uc001diu.3_Missense_Mutation_p.S1039F|LPHN2_uc001div.3_Missense_Mutation_p.S1039F|LPHN2_uc009wcd.3_Missense_Mutation_p.S1039F|LPHN2_uc001diw.3_Missense_Mutation_p.S623F|LPHN2_uc009wce.1_Missense_Mutation_p.S140F NM_012302 NP_036434 O95490 LPHN2_HUMAN Homo sapiens latrophilin 2 (LPHN2), mRNA. 1052 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding p.S1039F(2)|p.S1067F(1) NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 119 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) CTCACCTGGTCCTTTGGGTTG 0.393000 189 10 0 0 0.006214 0 0 PRKAA2 5563 broad.mit.edu 37 1 57173265 57173265 + Missense_Mutation SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr1:57173265C>T uc001cyk.4 + 8 1609 c.1538C>T c.(1537-1539)tCt>tTt p.S513F NM_006252 NP_006243 P54646 AAPK2_HUMAN Homo sapiens protein kinase, AMP-activated, alpha 2 catalytic subunit (PRKAA2), mRNA. 513 carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleoplasm ATP binding|metal ion binding breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1) 23 CATTCACTTTCTGGCTCTCTC 0.488000 121 7 0 0 0.004482 0 0 IWS1 55677 broad.mit.edu 37 2 128253686 128253686 + Missense_Mutation SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr2:128253686C>T uc002ton.2 - 6 1907 c.1604G>A c.(1603-1605)cGa>cAa p.R535Q IWS1_uc010yzl.1_Non-coding_Transcript NM_017969 NP_060439 Q96ST2 IWS1_HUMAN Homo sapiens IWS1 homolog (S. cerevisiae) (IWS1), mRNA. 535 transcription, DNA-dependent nucleus DNA binding cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 28 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0735) GCTCTTTTTTCGCTGCAACAT 0.413000 185 10 0 0 0.006214 0 0 VN1R2 317701 broad.mit.edu 37 19 53762788 53762788 + Missense_Mutation SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr19:53762788G>A uc002qbi.2 + 0 1244 c.1160G>A c.(1159-1161)cGa>cAa p.R387Q NM_173856 NP_776255 Q8NFZ6 VN1R2_HUMAN Homo sapiens vomeronasal 1 receptor 2 (VN1R2), mRNA. 387 response to pheromone integral to membrane|plasma membrane pheromone receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 31 GBM - Glioblastoma multiforme(134;0.00301) AGAAATAGACGATTCTTTCAT 0.438000 107 7 0 0 0.001984 0 0 PCDH20 64881 broad.mit.edu 37 13 61987027 61987027 + Missense_Mutation SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr13:61987027C>T uc001vid.4 - 1 1569 c.1205G>A c.(1204-1206)gGa>gAa p.G402E PCDH20_uc010thj.2_Missense_Mutation_p.G402E NM_022843 NP_073754 Q8N6Y1 PCD20_HUMAN Homo sapiens protocadherin 20 (PCDH20), mRNA. 375 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 58 Breast(118;0.195)|Prostate(109;0.229) GBM - Glioblastoma multiforme(99;0.000118) GCAGCCTGGTCCATTAGCAAG 0.423000 97 6 0 0 0.001984 0 0 TUBAL3 79861 broad.mit.edu 37 10 5435999 5435999 + Silent SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr10:5435999G>A uc001ihy.3 - 3 860 c.822C>T c.(820-822)ttC>ttT p.F274F TUBAL3_uc001ihz.3_Silent_p.F234F NM_024803 NP_079079 A6NHL2 TBAL3_HUMAN Homo sapiens tubulin, alpha-like 3 (TUBAL3), transcript variant 1, mRNA. 274 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3) 25 CTGTCATGGGGAAATGTATTC 0.512000 170 10 0 0 0.008291 0 0 CAMTA1 23261 broad.mit.edu 37 1 7724446 7724446 + Silent SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr1:7724446C>T uc001aoi.3 + 8 2046 c.1839C>T c.(1837-1839)tcC>tcT p.S613S NM_015215 NP_056030 Q9Y6Y1 CMTA1_HUMAN Homo sapiens calmodulin binding transcription activator 1 (CAMTA1), transcript variant 1, mRNA. 613 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calmodulin binding p.P612S(1) breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 85 Ovarian(185;0.0634) all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388) UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133) AGACCCCCTCCCCGAGCTTCT 0.642000 T WWTR1 epitheliod hemangioendothelioma 130 5 0 0 0.014758 0 0 UNC13A 23025 broad.mit.edu 37 19 17759387 17759387 + Missense_Mutation SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr19:17759387C>T uc021uqk.1 - 15 1708 c.1666G>A c.(1666-1668)Gaa>Aaa p.E556K NM_001080421 NP_001073890 Q9UPW8 UN13A_HUMAN Homo sapiens unc-13 homolog A (C. elegans) (UNC13A), mRNA. 557 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2) 61 GTCCACACTTCGAAGTTGTGT 0.607000 65 4 0 0 0.021553 0 0 PLA2G4D 283748 broad.mit.edu 37 15 42386655 42386655 + Missense_Mutation SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr15:42386655C>T uc001zox.3 - 0 98 c.3G>A c.(1-3)atG>atA p.M1I NM_178034 NP_828848 Q86XP0 PA24D_HUMAN Homo sapiens phospholipase A2, group IVD (cytosolic) (PLA2G4D), mRNA. 1 phospholipid catabolic process cytoplasmic vesicle membrane|cytosol metal ion binding|phospholipase A2 activity NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1) 27 all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245) OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06) ACAGGCTCTCCATGCTAGCCC 0.637000 57 4 0 0 0.014758 0 0 SRL 6345 broad.mit.edu 37 16 4242622 4242622 + Silent SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr16:4242622C>T uc002cvz.4 - 5 967 c.954G>A c.(952-954)ctG>ctA p.L318L SRL_uc002cvy.4_Non-coding_Transcript NM_001098814 NP_001092284 Q86TD4 SRCA_HUMAN Homo sapiens sarcalumenin (SRL), mRNA. 777 Acidic domain, probably binds calcium (By similarity). sarcoplasmic reticulum lumen GTP binding|GTPase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3) 21 TCACCTGATTCAGGTCTTCTA 0.562000 131 6 0 0 0.003080 0 0 KIF21B 23046 broad.mit.edu 37 1 200967660 200967660 + Silent SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr1:200967660G>A uc001gvs.2 - 13 2246 c.1929C>T c.(1927-1929)atC>atT p.I643I KIF21B_uc009wzl.2_Silent_p.I643I|KIF21B_uc001gvr.2_Silent_p.I643I|KIF21B_uc010ppn.2_Silent_p.I643I NM_001252100 NP_001239029 O75037 KI21B_HUMAN Homo sapiens kinesin family member 21B (KIF21B), transcript variant 1, mRNA. 643 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2) 83 GCTTGATTTCGATCTCACAAG 0.572000 76 5 0 0 0.014758 0 0 A4GALT 53947 broad.mit.edu 37 22 43089624 43089624 + Missense_Mutation SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr22:43089624C>T uc003bdb.3 - 2 595 c.334G>A c.(334-336)Gtc>Atc p.V112I A4GALT_uc021wqo.1_Missense_Mutation_p.V112I|A4GALT_uc021wqp.1_Missense_Mutation_p.V112I|A4GALT_uc010gzd.3_Missense_Mutation_p.V112I|A4GALT_uc021wqq.1_Missense_Mutation_p.V112I NM_017436 NP_059132 Q9NPC4 A4GAT_HUMAN Homo sapiens alpha 1,4-galactosyltransferase (A4GALT), mRNA. 112 glycosphingolipid biosynthetic process|plasma membrane organization Golgi stack|integral to Golgi membrane|membrane fraction lactosylceramide 4-alpha-galactosyltransferase activity NS(1)|central_nervous_system(2)|large_intestine(6)|skin(1)|urinary_tract(1) 11 TTCATCAGGACCAGCACGTGG 0.607000 141 8 0 0 0.008291 0 0 ALOXE3 59344 broad.mit.edu 37 17 8015436 8015436 + Silent SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr17:8015436G>A uc002gka.3 - 5 1258 c.1227C>T c.(1225-1227)ttC>ttT p.F409F ALOXE3_uc010cnr.3_Silent_p.F253F|ALOXE3_uc010vuo.2_Silent_p.F385F|ALOXE3_uc010vup.2_Non-coding_Transcript NM_021628 NP_067641 Q9BYJ1 LOXE3_HUMAN Homo sapiens arachidonate lipoxygenase 3 (ALOXE3), transcript variant 2, mRNA. 253 Lipoxygenase. leukotriene biosynthetic process iron ion binding|lipoxygenase activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4) 31 TATGGCACCAGAAGATGTTCT 0.532000 147 7 0 0 0.003080 0 0 CREB5 9586 broad.mit.edu 37 7 28610108 28610108 + Silent SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr7:28610108G>A uc003szq.3 + 4 807 c.417G>A c.(415-417)caG>caA p.Q139Q CREB5_uc003szo.3_Silent_p.Q106Q|CREB5_uc003szr.3_Silent_p.Q132Q NM_182898 NP_878902 Q02930 CREB5_HUMAN Homo sapiens cAMP responsive element binding protein 5 (CREB5), transcript variant 1, mRNA. 139 positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3) 32 CGTCGCCTCAGTCCAGCTCTG 0.617000 429 22 0 0 0.012319 0 0 DOCK1 1793 broad.mit.edu 37 10 129224221 129224221 + Silent SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr10:129224221C>T uc010qun.2 + 46 4924 c.4860C>T c.(4858-4860)gcC>gcT p.A1620A DOCK1_uc001ljt.3_Silent_p.A1599A|DOCK1_uc009yaq.3_Silent_p.A594A NM_001380 NP_001371 Q14185 DOCK1_HUMAN Homo sapiens dedicator of cytokinesis 1 (DOCK1), mRNA. 1599 apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction cytosol|membrane GTP binding|GTPase activator activity|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 72 all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14) BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115) GGATGGAGGCCTGTTTCAAAC 0.517000 218 10 0 0 0.006214 0 0 OR51F2 119694 broad.mit.edu 37 11 4843090 4843090 + Missense_Mutation SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr11:4843090G>A uc010qyn.2 + 0 475 c.475G>A c.(475-477)Ggg>Agg p.G159R NM_001004753 NP_001004753 Q8NH61 O51F2_HUMAN Homo sapiens olfactory receptor, family 51, subfamily F, member 2 (OR51F2), mRNA. 159 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) TGCCAAGATTGGGATGAGCAT 0.463000 177 11 0 0 0.013537 0 0 AGPAT5 55326 broad.mit.edu 37 8 6599221 6599221 + Missense_Mutation SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr8:6599221C>T uc003wqo.3 + 4 847 c.535C>T c.(535-537)Cca>Tca p.P179S AGPAT5_uc011kwm.2_Intron NM_018361 NP_060831 Q9NUQ2 PLCE_HUMAN Homo sapiens 1-acylglycerol-3-phosphate O-acyltransferase 5 (lysophosphatidic acid acyltransferase, epsilon) (AGPAT5), mRNA. 179 phospholipid biosynthetic process integral to membrane|mitochondrion 1-acylglycerol-3-phosphate O-acyltransferase activity AGPAT5/MCPH1(2) endometrium(2)|kidney(2)|large_intestine(4)|lung(3) 11 STAD - Stomach adenocarcinoma(24;0.0578) READ - Rectum adenocarcinoma(644;0.156)|COAD - Colon adenocarcinoma(149;0.191) AAGGTATAATCCAGAGCAAAC 0.338000 120 5 0 0 0.021553 0 0 WIF1 11197 broad.mit.edu 37 12 65462650 65462650 + Silent SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr12:65462650C>T uc001ssk.3 - 3 807 c.432G>A c.(430-432)caG>caA p.Q144Q NM_007191 NP_009122 Q9Y5W5 WIF1_HUMAN Homo sapiens WNT inhibitory factor 1 (WIF1), mRNA. 144 WIF. Wnt receptor signaling pathway|multicellular organismal development extracellular region protein tyrosine kinase activity cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1) 21 LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975) GBM - Glioblastoma multiforme(28;0.0231) CCACCCCATCCTGTTTTCCAA 0.358000 T HMGA2 pleomorphic salivary gland adenoma 58 4 0 0 0.014758 0 0 RGS6 9628 broad.mit.edu 37 14 72976951 72976951 + Missense_Mutation SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr14:72976951G>A uc001xna.4 + 13 1578 c.1055G>A c.(1054-1056)cGa>cAa p.R352Q RGS6_uc021rvv.1_Missense_Mutation_p.R317Q|RGS6_uc010ttn.2_Missense_Mutation_p.R352Q|RGS6_uc021rvw.1_Missense_Mutation_p.R352Q|RGS6_uc021rvx.1_Missense_Mutation_p.R352Q|RGS6_uc021rvy.1_Missense_Mutation_p.R315Q|RGS6_uc021rvz.1_Missense_Mutation_p.R315Q|RGS6_uc001xmy.4_Missense_Mutation_p.R352Q|RGS6_uc010tto.2_Non-coding_Transcript|RGS6_uc001xmx.4_Missense_Mutation_p.R352Q|RGS6_uc021rwa.1_Missense_Mutation_p.R315Q|RGS6_uc021rwb.1_Missense_Mutation_p.R315Q|RGS6_uc010ttp.1_Missense_Mutation_p.R283Q|RGS6_uc021rwc.1_Missense_Mutation_p.R213Q NM_001204423 NP_001191352 P49758 RGS6_HUMAN Homo sapiens regulator of G-protein signaling 6 (RGS6), transcript variant 9, mRNA. 352 RGS. G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476) CAGTTTCTACGATTCCTGGAG 0.473000 161 9 0 0 0.006214 0 0 HMHA1 23526 broad.mit.edu 37 19 1079932 1079932 + Silent SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr19:1079932G>A uc002lqz.1 + 12 1749 c.1518G>A c.(1516-1518)acG>acA p.T506T HMHA1_uc010xgd.1_Silent_p.T522T|HMHA1_uc010xge.1_Silent_p.T346T|HMHA1_uc002lra.1_Silent_p.T346T|HMHA1_uc002lrb.1_Silent_p.T389T|HMHA1_uc002lrc.1_Silent_p.T141T NM_012292 NP_036424 Q92619 HMHA1_HUMAN Homo sapiens histocompatibility (minor) HA-1 (HMHA1), mRNA. 506 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|metal ion binding NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2) 16 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CGCAGGCCACGATCTCCTACT 0.677000 115 8 0 0 0.008291 0 0 FTH1 2495 broad.mit.edu 37 11 61732984 61732984 + Missense_Mutation SNP A G G TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr11:61732984A>G uc001nsu.3 - 1 353 c.118T>C c.(118-120)Tac>Cac p.Y40H NM_002032 NP_002023 P02794 FRIH_HUMAN Homo sapiens ferritin, heavy polypeptide 1 (FTH1), mRNA. 40 Ferritin-like diiron. cell proliferation|cellular membrane organization|immune response|intracellular sequestering of iron ion|iron ion transport|negative regulation of cell proliferation|post-Golgi vesicle-mediated transport cytosol|intracellular ferritin complex ferric iron binding|ferroxidase activity|protein binding NS(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 8 Iron Dextran(DB00893) TCAAAGTAGTAAGACTGAAAG 0.473000 92 5 0 0 0.014758 0 0 PLCB4 5332 broad.mit.edu 37 20 9438063 9438063 + Missense_Mutation SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr20:9438063G>A uc021wam.1 + 29 2978 c.2963G>A c.(2962-2964)gGa>gAa p.G988E PLCB4_uc010gbw.1_Missense_Mutation_p.G988E|PLCB4_uc010gbx.3_Missense_Mutation_p.G1000E|PLCB4_uc021wal.1_Missense_Mutation_p.G988E|PLCB4_uc002wnh.3_Missense_Mutation_p.G835E NM_000933 NP_000924 Q15147 PLCB4_HUMAN Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA. 988 intracellular signal transduction|lipid catabolic process cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1) 87 ATTTTCAGGGGAAGTAATTGT 0.348000 49 4 0 0 0.014758 0 0 CLDN11 5010 broad.mit.edu 37 3 170150390 170150390 + Missense_Mutation SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr3:170150390C>T uc003fgx.3 + 2 672 c.470C>T c.(469-471)tCc>tTc p.S157F CLDN11_uc011bpt.1_Intron|CLDN11_uc003fgy.3_Missense_Mutation_p.S73F NM_005602 NP_001171985 O75508 CLD11_HUMAN Homo sapiens claudin 11 (CLDN11), transcript variant 1, mRNA. 157 calcium-independent cell-cell adhesion integral to membrane|tight junction identical protein binding|structural molecule activity central_nervous_system(2)|endometrium(2)|large_intestine(1)|liver(2)|lung(3)|ovary(2) 12 all_cancers(22;5.62e-23)|all_epithelial(15;7.54e-28)|all_lung(20;2.51e-17)|Lung NSC(18;1.02e-16)|Ovarian(172;0.000567)|Breast(254;0.137) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197) TTTGGCTACTCCCTGTATGCA 0.602000 92 5 0 0 0.021553 0 0 PAPPA2 60676 broad.mit.edu 37 1 176525801 176525801 + Missense_Mutation SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr1:176525801C>T uc001gkz.3 + 1 1507 c.343C>T c.(343-345)Cca>Tca p.P115S PAPPA2_uc001gky.1_Missense_Mutation_p.P115S|PAPPA2_uc009www.3_Non-coding_Transcript NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA. 115 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 GACTGAAAATCCAGCAGGACT 0.547000 183 6 0 0 0.021553 0 0 PCDH18 54510 broad.mit.edu 37 4 138453224 138453224 + Missense_Mutation SNP T G G TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr4:138453224T>G uc003ihe.4 - 0 406 c.19A>C c.(19-21)Aaa>Caa p.K7Q PCDH18_uc003ihf.4_5'UTR|PCDH18_uc011cgz.2_Intron|PCDH18_uc003ihg.4_Intron|PCDH18_uc011cha.2_Intron NM_019035 NP_061908 Q9HCL0 PCD18_HUMAN Homo sapiens protocadherin 18 (PCDH18), mRNA. 7 brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_hematologic(180;0.24) AAGTGCATTTTAGCATTCATT 0.388000 76 4 0 0 0.001984 0 0 OR10Q1 219960 broad.mit.edu 37 11 57995415 57995415 + Silent SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr11:57995415G>A uc010rkd.2 - 0 976 c.933C>T c.(931-933)atC>atT p.I311I NM_001004471 NP_001004471 Q8NGQ4 O10Q1_HUMAN Homo sapiens olfactory receptor, family 10, subfamily Q, member 1 (OR10Q1), mRNA. 311 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2) 35 Breast(21;0.0589) CTGCTTTACGGATAATGGCAC 0.493000 201 6 0 0 0.003080 0 0 APOBEC3B 9582 broad.mit.edu 37 22 39382370 39382370 + Silent SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr22:39382370C>T uc003awo.1 + 3 576 c.522C>T c.(520-522)ttC>ttT p.F174F APOBEC3B_uc011aoc.1_Intron|APOBEC3B_uc003awp.1_Silent_p.F174F|APOBEC3B_uc003awq.1_Non-coding_Transcript NM_004900 NP_004891 Q9UH17 ABC3B_HUMAN Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B (APOBEC3B), mRNA. 174 negative regulation of transposition RNA binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1) 13 Melanoma(58;0.04) GGTACAAATTCGATGAAAATT 0.478000 129 6 0 0 0.001984 0 0 GRM2 2912 broad.mit.edu 37 3 51747031 51747031 + Silent SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr3:51747031C>T uc010hlv.3 + 2 1232 c.993C>T c.(991-993)ttC>ttT p.F331F GRM2_uc003dbo.4_Intron|GRM2_uc010hlu.3_Non-coding_Transcript NM_000839 NP_000830 Q14416 GRM2_HUMAN Homo sapiens glutamate receptor, metabotropic 2 (GRM2), transcript variant 1, mRNA. 331 synaptic transmission integral to plasma membrane breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) Acamprosate(DB00659)|Nicotine(DB00184) CCTCCTACTTCCAGAGCCTGG 0.632000 43 4 0 0 0.009096 0 0 INPP4B 8821 broad.mit.edu 37 4 143235881 143235881 + Missense_Mutation SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr4:143235881G>A uc003iix.4 - 8 1002 c.407C>T c.(406-408)cCc>cTc p.P136L INPP4B_uc003iiw.4_Missense_Mutation_p.P136L|INPP4B_uc011chm.2_Non-coding_Transcript|INPP4B_uc011cho.1_Non-coding_Transcript NM_003866 NP_003857 O15327 INP4B_HUMAN Homo sapiens inositol polyphosphate-4-phosphatase, type II, 105kDa (INPP4B), transcript variant 1, mRNA. 136 C2. signal transduction phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity p.P136L(2) breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 all_hematologic(180;0.158) TTCTGGCGGGGGATCCTTATG 0.448000 127 6 0 0 0.021553 0 0 LTF 4057 broad.mit.edu 37 3 46479551 46479551 + Missense_Mutation SNP G A A rs148227142 TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr3:46479551G>A uc003cpq.3 - 15 2219 c.1978C>T c.(1978-1980)Ctt>Ttt p.L660F LTF_uc003fzr.3_Missense_Mutation_p.L616F|LTF_uc010hjh.3_Missense_Mutation_p.L658F|LTF_uc003cpr.3_Missense_Mutation_p.L647F NM_002343 NP_001186078 P02788 TRFL_HUMAN Homo sapiens lactotransferrin (LTF), transcript variant 1, mRNA. 660 Transferrin-like 2. cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport extracellular region|stored secretory granule ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 40 all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089) Pefloxacin(DB00487) TTGAACAGAAGGTTTTTGGTT 0.433000 165 10 0 0 0.010729 0 0 LRFN5 145581 broad.mit.edu 37 14 42356630 42356630 + Missense_Mutation SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr14:42356630C>T uc001wvm.3 + 2 2000 c.802C>T c.(802-804)Ctt>Ttt p.L268F LRFN5_uc010ana.3_Missense_Mutation_p.L268F NM_152447 NP_689660 Q96NI6 LRFN5_HUMAN Homo sapiens leucine rich repeat and fibronectin type III domain containing 5 (LRFN5), mRNA. 268 LRRCT. integral to membrane breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2) 120 LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728) GBM - Glioblastoma multiforme(112;0.00847) TTCTCCTCCACTTTTAACTGG 0.453000 HNSCC(30;0.082) 129 6 0 0 0.001984 0 0 MYH8 4626 broad.mit.edu 37 17 10323365 10323365 + Silent SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr17:10323365C>T uc002gmm.2 - 2 275 c.180G>A c.(178-180)ggG>ggA p.G60G AK097500_uc002gml.1_Intron NM_002472 NP_002463 P13535 MYH8_HUMAN Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA. 60 Myosin head-like. muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 CGGTTACTTTCCCTCCTTCTT 0.423000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 256 9 0 0 0.008291 0 0 GRID2 2895 broad.mit.edu 37 4 94693356 94693356 + Missense_Mutation SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr4:94693356C>T uc011cdt.2 + 15 2989 c.2731C>T c.(2731-2733)Cca>Tca p.P911S GRID2_uc011cdu.2_Missense_Mutation_p.P816S NM_001510 NP_001501 O43424 GRID2_HUMAN Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA. 911 glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity p.P911S(2) NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) TGACACTTTGCCAACACGACA 0.463000 109 5 0 0 0.014758 0 0 TAS2R38 5726 broad.mit.edu 37 7 141673373 141673373 + Silent SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr7:141673373C>T uc003vwx.1 - 0 201 c.117G>A c.(115-117)gtG>gtA p.V39V NM_176817 NP_789787 P59533 T2R38_HUMAN Homo sapiens taste receptor, type 2, member 38 (TAS2R38), mRNA. 39 sensory perception of taste integral to membrane G-protein coupled receptor activity NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1) 21 Melanoma(164;0.0171) CCCAAAAATTCACCAAGAAAA 0.493000 76 6 0 0 0.021553 0 0 SERPINA4 5267 broad.mit.edu 37 14 95030295 95030295 + Missense_Mutation SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr14:95030295C>T uc010avd.3 + 1 861 c.587C>T c.(586-588)aCc>aTc p.T196I SERPINA4_uc001ydk.3_Missense_Mutation_p.T159I|SERPINA4_uc001ydl.3_Missense_Mutation_p.T159I NM_006215 NP_006206 P29622 KAIN_HUMAN Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4 (SERPINA4), mRNA. 159 regulation of proteolysis extracellular space serine-type endopeptidase inhibitor activity breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1) 46 COAD - Colon adenocarcinoma(157;0.211) CTGAATGACACCATGGCCGTC 0.532000 92 5 0 0 0.001984 0 0 LILRA1 11024 broad.mit.edu 37 19 55107142 55107142 + Missense_Mutation SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr19:55107142C>T uc002qgh.1 + 5 882 c.700C>T c.(700-702)Cct>Tct p.P234S LILRA1_uc010yfg.1_Missense_Mutation_p.P232S|LILRA1_uc010yfh.2_Missense_Mutation_p.P234S NM_006863 NP_006854 O75019 LIRA1_HUMAN Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 (LILRA1), mRNA. 234 Ig-like C2-type 3. cell surface receptor linked signaling pathway|defense response|regulation of immune response integral to membrane|plasma membrane antigen binding|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 47 GBM - Glioblastoma multiforme(193;0.0348) GCAGCCAGGTCCTATAGTGGC 0.537000 109 5 0 0 0.001984 0 0 CLEC4E 26253 broad.mit.edu 37 12 8692542 8692542 + Splice_Site SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr12:8692542C>T uc001quo.1 - 2 203 c.38_splice c.e2-1 p.E13_splice NM_014358 NP_055173 Q9ULY5 CLC4E_HUMAN Homo sapiens C-type lectin domain family 4, member E (CLEC4E), mRNA. 13 integral to membrane sugar binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 12 Lung SC(5;0.184) AGCATCCTCTCTCTGTAGAAA 0.403000 126 5 0 0 0.014758 0 0 LPPR1 54886 broad.mit.edu 37 9 104032238 104032238 + Missense_Mutation SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr9:104032238G>A uc004bbb.3 + 2 539 c.140G>A c.(139-141)gGa>gAa p.G47E LPPR1_uc011lvi.2_Missense_Mutation_p.G23E|LPPR1_uc004bbc.3_Missense_Mutation_p.G47E|LPPR1_uc010mtc.3_Missense_Mutation_p.G31E NM_207299 NP_997182 Q8TBJ4 LPPR1_HUMAN Homo sapiens lipid phosphate phosphatase-related protein type 1 (LPPR1), transcript variant 1, mRNA. 47 integral to membrane catalytic activity CATATCCAAGGATTCTTCTGT 0.502000 69 6 0 0 0.021553 0 0 RGPD5 84220 broad.mit.edu 37 2 113147662 113147662 + Missense_Mutation SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr2:113147662G>A uc002ths.2 - 19 3052 c.2860C>T c.(2860-2862)Cgg>Tgg p.R954W RGPD5_uc010fkk.2_Missense_Mutation_p.R814W|RGPD5_uc002tht.1_Missense_Mutation_p.R205W NM_005054 NP_001157935 Q99666 RGPD5_HUMAN Homo sapiens RANBP2-like and GRIP domain containing 5 (RGPD5), transcript variant 1, mRNA. 954 intracellular transport cytoplasm binding central_nervous_system(1) 1 CCCTTCTTCCGGCCCCTAATA 0.413000 259 10 0 0 0.006214 0 0 RGS7 6000 broad.mit.edu 37 1 240975259 240975259 + Silent SNP G A A rs114051974 by1000genomes TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr1:240975259G>A uc001hyt.2 - 6 591 c.537C>T c.(535-537)ttC>ttT p.F179F RGS7_uc010pyh.2_Silent_p.F321F|RGS7_uc010pyj.1_Silent_p.F263F|RGS7_uc001hyu.2_Silent_p.F347F|RGS7_uc009xgn.1_Silent_p.F294F|RGS7_uc001hyv.2_Silent_p.F347F|RGS7_uc001hyw.2_Silent_p.F347F NM_002924 NP_002915 P49802 RGS7_HUMAN Homo sapiens regulator of G-protein signaling 7 (RGS7), mRNA. 347 G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|protein binding|signal transducer activity p.D178Y(2) breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(173;0.0131) OV - Ovarian serous cystadenocarcinoma(106;0.027) GAAATTTAAGGAACTGTTCTC 0.418000 56 4 0 0 0.009096 0 0 ZPBP 11055 broad.mit.edu 37 7 50121463 50121463 + Missense_Mutation SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr7:50121463G>A uc003tou.3 - 2 311 c.241C>T c.(241-243)Cca>Tca p.P81S ZPBP_uc010kyw.3_Missense_Mutation_p.P81S NM_007009 NP_008940 Q9BS86 ZPBP1_HUMAN Homo sapiens zona pellucida binding protein (ZPBP), transcript variant 1, mRNA. 81 binding of sperm to zona pellucida extracellular region NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3) 29 Glioma(55;0.08)|all_neural(89;0.245) AACACGTGTGGACTCTTTTGA 0.358000 45 4 0 0 0.009096 0 0 KRTAP13-1 140258 broad.mit.edu 37 21 31768434 31768434 + Silent SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr21:31768434C>T uc002yoa.3 + 0 43 c.30C>T c.(28-30)ttC>ttT p.F10F NM_181599 NP_853630 Q8IUC0 KR131_HUMAN Homo sapiens keratin associated protein 13-1 (KRTAP13-1), mRNA. 10 intermediate filament endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 CTGGAAACTTCTCCTCCCGCT 0.537000 190 6 0 0 0.001984 0 0 ZXDA 7789 broad.mit.edu 37 X 57934541 57934541 + Missense_Mutation SNP A C C TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chrX:57934541A>C uc004dve.3 - 0 2527 c.2314T>G c.(2314-2316)Ttt>Gtt p.F772V NM_007156 NP_009087 P98168 ZXDA_HUMAN Homo sapiens zinc finger, X-linked, duplicated A (ZXDA), mRNA. 772 positive regulation of transcription, DNA-dependent nucleus C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1) 37 GGGAATCCAAACTGGGTTTCT 0.453000 36 6 0 0 0.021553 0 0 SLC10A3 8273 broad.mit.edu 37 X 153716270 153716271 + Missense_Mutation DNP CC TT TT TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chrX:153716270_153716271CC>TT uc022cig.1 - 0 1009_1010 c.1009_1010GG>AA c.(1009-1011)ggc>AAc p.G337N UBL4A_uc004flo.3_5'Flank|SLC10A3_uc004flr.3_Missense_Mutation_p.G308N|SLC10A3_uc004flq.3_Missense_Mutation_p.G337N|SLC10A3_uc004flp.3_Missense_Mutation_p.G337N NM_019848 NP_062822 P09131 P3_HUMAN Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 3 (SLC10A3), transcript variant 1, mRNA. 337 organic anion transport integral to membrane bile acid:sodium symporter activity endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 15 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) GATCAGCACGCCCACGGCTATG 0.619000 48 4 0 0 0.004672 0 0 MAGEA6 4105 broad.mit.edu 37 X 151870034 151870034 + Missense_Mutation SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chrX:151870034C>T uc022chf.1 + 0 724 c.724C>T c.(724-726)Ccc>Tcc p.P242S MAGEA6_uc004ffq.1_Missense_Mutation_p.P242S|MAGEA6_uc004ffr.1_Missense_Mutation_p.P242S NM_175868 NP_787064 P43360 MAGA6_HUMAN Homo sapiens melanoma antigen family A, 6 (MAGEA6), transcript variant 2, mRNA. 242 MAGE. protein binding p.D241Y(1) breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1) 28 Acute lymphoblastic leukemia(192;6.56e-05) CTTCGGGGATCCCAAGAAGCT 0.547000 107 9 0 0 0.008291 0 0 OR10H4 126541 broad.mit.edu 37 19 16059904 16059904 + Silent SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr19:16059904C>T uc010xov.2 + 0 87 c.87C>T c.(85-87)ttC>ttT p.F29F NM_001004465 NP_001004465 Q8NGA5 O10H4_HUMAN Homo sapiens olfactory receptor, family 10, subfamily H, member 4 (OR10H4), mRNA. 29 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1) 17 CCATCTTGTTCCTGCTGTACC 0.483000 187 9 0 0 0.004482 0 0 FPGT-TNNI3K 100526835 broad.mit.edu 37 1 74901813 74901813 + Missense_Mutation SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr1:74901813G>A uc001dge.2 + 19 2192 c.2125G>A c.(2125-2127)Gga>Aga p.G709R FPGT-TNNI3K_uc001dgd.3_Missense_Mutation_p.G709R|FPGT-TNNI3K_uc001dgf.2_Missense_Mutation_p.G608R NM_001112808 NP_001106279 Q59H18 TNI3K_HUMAN Homo sapiens FPGT-TNNI3K readthrough (FPGT-TNNI3K), transcript variant 1, mRNA. 608 Protein kinase. cytoplasm|nucleus ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding GGCAGATTTTGGAGGTGAGAT 0.373000 91 7 0 0 0.004482 0 0 MYD88 4615 broad.mit.edu 37 3 38182688 38182688 + Silent SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr3:38182688C>T uc003chx.3 + 4 1049 c.865C>T c.(865-867)Ctg>Ttg p.L289L MYD88_uc011ayi.2_Silent_p.L281L|MYD88_uc011ayj.2_3'UTR|MYD88_uc011ayk.2_3'UTR|MYD88_uc011ayl.2_Silent_p.L236L NM_001172567 NP_001166038 Q99836 MYD88_HUMAN Homo sapiens myeloid differentiation primary response gene (88) (MYD88), transcript variant 1, mRNA. 268 TIR. 3'-UTR-mediated mRNA stabilization|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|anti-apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-17 production|positive regulation of interleukin-23 production|positive regulation of interleukin-6 production|regulation of inflammatory response|response to interleukin-1|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|intrinsic to membrane|plasma membrane TIR domain binding|death receptor binding|transmembrane receptor activity p.V286_T294del(1) breast(1)|haematopoietic_and_lymphoid_tissue(226)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1) 237 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) CCCCAGCATCCTGAGGTTCAT 0.557000 Mis ABC-DLBCL 112 7 0 0 0.001984 0 0 MUC16 94025 broad.mit.edu 37 19 9026227 9026227 + Silent SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr19:9026227C>T uc002mkp.3 - 13 36963 c.36759G>A c.(36757-36759)agG>agA p.R12253R NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 12255 SEA 2. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TGTTGAACTTCCTGGAGCCAG 0.562000 166 6 0 0 0.021553 0 0 CHRNA3 1136 broad.mit.edu 37 15 78885499 78885499 + Missense_Mutation SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr15:78885499C>T uc002beb.3 - 5 1925 c.1424G>A c.(1423-1425)cGa>cAa p.R475Q CHRNA3_uc002bea.3_Non-coding_Transcript|CHRNA5_uc002bdy.3_Silent_p.F437F|CHRNA3_uc010blg.2_Non-coding_Transcript NM_001166694 NP_001160166 P32297 ACHA3_HUMAN Homo sapiens cholinergic receptor, nicotinic, alpha 3 (CHRNA3), transcript variant 2, mRNA. 0 activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 CTTTTCTTTTCGTTTCAATTG 0.318000 78 7 0 0 0.003080 0 0 C20orf152 140894 broad.mit.edu 37 20 34563906 34563906 + Missense_Mutation SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr20:34563906G>A uc002xer.1 + 2 381 c.225G>A c.(223-225)atG>atA p.M75I C20orf152_uc002xes.1_Missense_Mutation_p.M75I|C20orf152_uc010gfp.1_Non-coding_Transcript NM_080834 NP_543024 Q96M20 CT152_HUMAN Homo sapiens chromosome 20 open reading frame 152 (C20orf152), transcript variant 1, mRNA. 75 breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1) 18 Breast(12;0.00631) TTGATACCATGGACTTCATTG 0.483000 85 6 0 0 0.001984 0 0 PRAMEF2 65122 broad.mit.edu 37 1 12919918 12919918 + Silent SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr1:12919918C>T uc001aum.1 + 2 745 c.658C>T c.(658-660)Ctg>Ttg p.L220L NM_023014 NP_075390 O60811 PRAM2_HUMAN Homo sapiens PRAME family member 2 (PRAMEF2), mRNA. 220 breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4) 42 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) CTGGCCACATCTGATAAGAAA 0.378000 115 6 0 0 0.021553 0 0 NLRP7 199713 broad.mit.edu 37 19 55450557 55450557 + Missense_Mutation SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr19:55450557G>A uc002qih.4 - 3 1706 c.1630C>T c.(1630-1632)Ccg>Tcg p.P544S NLRP7_uc010esk.3_Missense_Mutation_p.P544S|NLRP7_uc002qig.4_Missense_Mutation_p.P544S|NLRP7_uc002qii.4_Missense_Mutation_p.P544S|NLRP7_uc010esl.3_Missense_Mutation_p.P572S NM_206828 NP_996611 Q8WX94 NALP7_HUMAN Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA. 544 ATP binding autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 73 GBM - Glioblastoma multiforme(193;0.0325) TTGATGTCCGGTGACATCCGG 0.512000 76 5 0 0 0.014758 0 0 CRYGB 1419 broad.mit.edu 37 2 209007617 209007617 + Missense_Mutation SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr2:209007617C>T uc002vcp.4 - 2 306 c.273G>A c.(271-273)atG>atA p.M91I LOC100507443_uc021vvt.1_Intron|CRYGD_uc021vvu.1_Intron NM_005210 NP_005201 P07316 CRGB_HUMAN Homo sapiens crystallin, gamma B (CRYGB), mRNA. 91 Beta/gamma crystallin 'Greek key' 3. visual perception structural constituent of eye lens cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1) 14 Epithelial(149;0.0641)|LUSC - Lung squamous cell carcinoma(261;0.0703)|Lung(261;0.132) CGTAGATCTTCATTCTGTAAG 0.473000 133 5 0 0 0.004482 0 0 CSMD1 64478 broad.mit.edu 37 8 2813237 2813237 + Missense_Mutation SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr8:2813237C>T uc022aqr.1 - 63 10258 c.9868G>A c.(9868-9870)Gat>Aat p.D3290N CSMD1_uc011kwj.2_Missense_Mutation_p.D2620N|CSMD1_uc010lrg.3_Missense_Mutation_p.D1182N NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA. 3291 Sushi 28. 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) GTAGGAAGATCGATGGCTCTC 0.473000 94 6 0 0 0.021553 0 0 GIMAP4 55303 broad.mit.edu 37 7 150269887 150269887 + Silent SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr7:150269887C>T uc003whl.3 + 2 811 c.729C>T c.(727-729)ctC>ctT p.L243L GIMAP4_uc011kuu.2_Silent_p.L104L|GIMAP4_uc011kuv.2_Silent_p.L257L NM_018326 NP_060796 Q9NUV9 GIMA4_HUMAN Homo sapiens GTPase, IMAP family member 4 (GIMAP4), mRNA. 243 GTP binding breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(82;0.0179) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TGCAAGAACTCCACAGAGTGG 0.483000 32 4 0 0 0.009096 0 0 CHD4 1108 broad.mit.edu 37 12 6707587 6707587 + Missense_Mutation SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr12:6707587G>A uc001qpo.3 - 10 1651 c.1487C>T c.(1486-1488)cCa>cTa p.P496L CHD4_uc001qpn.3_Missense_Mutation_p.P489L|CHD4_uc001qpp.3_Missense_Mutation_p.P493L NM_001273 NP_001264 Q14839 CHD4_HUMAN Homo sapiens chromodomain helicase DNA binding protein 4 (CHD4), mRNA. 496 Chromo 1. chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent NuRD complex|microtubule organizing center ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding central_nervous_system(2) 2 CTTCAGAGCTGGACACTGAGA 0.502000 120 9 0 0 0.004482 0 0 C6 729 broad.mit.edu 37 5 41203303 41203303 + Silent SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr5:41203303G>A uc003jmk.2 - 1 240 c.30C>T c.(28-30)atC>atT p.I10I C6_uc003jml.1_Silent_p.I10I NM_000065 NP_001108603 P13671 CO6_HUMAN Homo sapiens complement component 6 (C6), transcript variant 1, mRNA. 10 complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2) 96 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) CATTCAGCAGGATGAAGTACA 0.463000 99 5 0 0 0.021553 0 0 SULT2A1 6822 broad.mit.edu 37 19 48389444 48389444 + Missense_Mutation SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr19:48389444C>T uc002phr.2 - 0 211 c.71G>A c.(70-72)aGa>aAa p.R24K NM_003167 NP_003158 Q06520 ST2A1_HUMAN Homo sapiens sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1 (SULT2A1), mRNA. 24 3'-phosphoadenosine 5'-phosphosulfate metabolic process|bile acid catabolic process|cellular lipid metabolic process|digestion|sulfation|xenobiotic metabolic process cytosol bile-salt sulfotransferase activity breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1) 20 all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552) ACGTACTTTTCTTAAGGTTTC 0.428000 109 8 0 0 0.004482 0 0 OR4N3P 390539 broad.mit.edu 37 15 22414053 22414053 + Missense_Mutation SNP C A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr15:22414053C>A uc001yuf.3 + 0 592 c.352C>A c.(352-354)Ctg>Atg p.L118M abParts_uc001yuj.2_Intron Homo sapiens olfactory receptor, family 4, subfamily N, member 3 pseudogene (OR4N3P), non-coding RNA. GGTGGAGCTTCTGATGGTCTT 0.507000 99 8 1.12685e-05 1.16659e-05 0.004482 1 0 DSE 29940 broad.mit.edu 37 6 116747888 116747888 + Missense_Mutation SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr6:116747888G>A uc011ebg.2 + 2 724 c.625G>A c.(625-627)Gaa>Aaa p.E209K DSE_uc011ebf.1_Missense_Mutation_p.E190K|DSE_uc003pws.3_Missense_Mutation_p.E190K|DSE_uc003pwt.3_Missense_Mutation_p.E190K NM_013352 NP_037484 Q9UL01 DSE_HUMAN Homo sapiens dermatan sulfate epimerase (DSE), transcript variant 1, mRNA. 190 dermatan sulfate biosynthetic process Golgi apparatus|endoplasmic reticulum|integral to membrane chondroitin-glucuronate 5-epimerase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234) Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262) GTATATGTATGAAACTTCATA 0.448000 36 5 0 0 0.014758 0 0 NF1 4763 broad.mit.edu 37 17 29687605 29687605 + Missense_Mutation SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr17:29687605C>T uc002hgg.3 + 56 8644 c.8261C>T c.(8260-8262)tCc>tTc p.S2754F NF1_uc002hgh.3_Missense_Mutation_p.S2733F|NF1_uc010cso.3_Missense_Mutation_p.S942F|NF1_uc010wbt.1_Missense_Mutation_p.S232F|NF1_uc010wbu.1_Non-coding_Transcript NM_001042492 NP_001035957 P21359 NF1_HUMAN Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA. 2754 MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus Ras GTPase activator activity|protein binding p.0?(8)|p.?(3)|p.S2751fs*27(1) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) AGTGAAGAATCCCTCCTGACT 0.448000 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 96 8 0 0 0.003080 0 0 FLG 2312 broad.mit.edu 37 1 152277136 152277136 + Missense_Mutation SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr1:152277136C>T uc001ezu.1 - 2 10262 c.10226G>A c.(10225-10227)cGa>cAa p.R3409Q NM_002016 NP_002007 P20930 FILA_HUMAN Homo sapiens filaggrin (FLG), mRNA. 3409 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TCCTTGTCTTCGTCCAGTGCT 0.602000 Ichthyosis 214 8 0 0 0.006214 0 0 MUC16 94025 broad.mit.edu 37 19 9090172 9090172 + Missense_Mutation SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr19:9090172G>A uc002mkp.3 - 0 1847 c.1643C>T c.(1642-1644)cCc>cTc p.P548L NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 548 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TGATGCTGGGGGTCTCTCTGT 0.522000 62 4 0 0 0.014758 0 0 FURIN 5045 broad.mit.edu 37 15 91424025 91424025 + Missense_Mutation SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr15:91424025C>T uc002bpu.1 + 13 1877 c.1661C>T c.(1660-1662)aCc>aTc p.T554I NM_002569 NP_002560 P09958 FURIN_HUMAN Homo sapiens furin (paired basic amino acid cleaving enzyme) (FURIN), mRNA. 554 Notch signaling pathway|cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release Golgi lumen|Golgi membrane|cell surface|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3) 36 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.189) ATTGAAAACACCAGCGAAGCC 0.562000 299 13 0 0 0.016723 0 0 KALRN 8997 broad.mit.edu 37 3 124153237 124153237 + Silent SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr3:124153237C>T uc003ehg.3 + 16 3034 c.2907C>T c.(2905-2907)gcC>gcT p.A969A KALRN_uc010hrv.1_Silent_p.A960A|KALRN_uc003ehf.1_Silent_p.A969A|KALRN_uc011bjy.1_Silent_p.A960A|KALRN_uc003ehh.1_Silent_p.A315A NM_001024660 NP_001019831 O60229 KALRN_HUMAN Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA. 969 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 TGCTCCAGGCCGGCCACTACG 0.587000 41 4 0 0 0.009096 0 0 CARD11 84433 broad.mit.edu 37 7 2987263 2987263 + Missense_Mutation SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr7:2987263C>T uc003smv.3 - 2 500 c.166G>A c.(166-168)Gat>Aat p.D56N NM_032415 NP_115791 Q9BXL7 CAR11_HUMAN Homo sapiens caspase recruitment domain family, member 11 (CARD11), mRNA. 56 CARD. T cell costimulation|T cell receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of cytokine production|regulation of apoptosis cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2) 150 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) TCATCTTCATCCTGCTCATCA 0.547000 Mis DLBCL 106 7 0 0 0.001984 0 0 ZNF558 148156 broad.mit.edu 37 19 8922347 8922347 + Silent SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr19:8922347G>A uc002mkn.1 - 5 1049 c.819C>T c.(817-819)ttC>ttT p.F273F ZNF558_uc010xkh.1_Silent_p.F202F|ZNF558_uc010dwg.1_Silent_p.F273F NM_144693 NP_653294 Q96NG5 ZN558_HUMAN Homo sapiens zinc finger protein 558 (ZNF558), mRNA. 273 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1) 15 ACCTTGTGCTGAAAGCTTTTC 0.458000 98 5 0 0 0.014758 0 0 TRPM4 54795 broad.mit.edu 37 19 49671280 49671280 + Missense_Mutation SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr19:49671280C>T uc002pmw.3 + 3 482 c.374C>T c.(373-375)tCg>tTg p.S125L TRPM4_uc010emu.3_Missense_Mutation_p.S125L|TRPM4_uc010yak.2_Intron|TRPM4_uc002pmx.3_Intron|TRPM4_uc010emv.3_Intron|TRPM4_uc010yal.2_Intron NM_017636 NP_060106 Q8TD43 TRPM4_HUMAN Homo sapiens transient receptor potential cation channel, subfamily M, member 4 (TRPM4), transcript variant 1, mRNA. 125 dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production Golgi apparatus|endoplasmic reticulum|integral to membrane|plasma membrane ATP binding|calcium activated cation channel activity|calmodulin binding breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 49 all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15) all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751) CTGGGGGGATCGGGGGGCCCC 0.677000 139 10 0 0 0.006214 0 0 SCN11A 11280 broad.mit.edu 37 3 38968340 38968340 + Missense_Mutation SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr3:38968340G>A uc021wvy.1 - 3 770 c.571C>T c.(571-573)Ctt>Ttt p.L191F NM_014139 NP_054858 Q9UI33 SCNBA_HUMAN Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA. 191 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) GGATCTCGAAGGAAAGAAAAC 0.368000 122 5 0 0 0.014758 0 0 PSG8 440533 broad.mit.edu 37 19 43258618 43258618 + Silent SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr19:43258618C>T uc002ouo.2 - 4 1208 c.1110G>A c.(1108-1110)ggG>ggA p.G370G PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Intron|PSG8_uc010eim.3_Non-coding_Transcript|PSG8_uc002ouh.3_Silent_p.G370G|PSG8_uc010ein.3_Silent_p.G248G|PSG3_uc002oun.3_Intron NM_182707 NP_874366 Q9UQ74 PSG8_HUMAN Homo sapiens pregnancy specific beta-1-glycoprotein 8 (PSG8), transcript variant 1, mRNA. 370 Ig-like C2-type 3. extracellular region breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 40 Prostate(69;0.00899) GCTGAAACTTCCCATTAATTG 0.463000 258 15 0 0 0.006122 0 0 C3orf39 84892 broad.mit.edu 37 3 43122071 43122071 + Missense_Mutation SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr3:43122071C>T uc003cmr.1 - 1 1196 c.853G>A c.(853-855)Ggc>Agc p.G285S C3orf39_uc003cmq.1_Missense_Mutation_p.G285S|C3orf39_uc021wwn.1_Missense_Mutation_p.G285S NM_032806 NP_116195 Q8NAT1 AGO61_HUMAN Homo sapiens chromosome 3 open reading frame 39 (C3orf39), mRNA. 285 extracellular region transferase activity, transferring glycosyl groups cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 26 KIRC - Kidney renal clear cell carcinoma(284;0.0571)|Kidney(284;0.0718) TACTCCTCGCCTAGGGGGACT 0.557000 78 4 0 0 0.009096 0 0 PDYN 5173 broad.mit.edu 37 20 1963712 1963712 + Missense_Mutation SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr20:1963712C>T uc010gaj.3 - 1 261 c.19G>A c.(19-21)Gtc>Atc p.V7I AK090681_uc002wfu.1_Intron|PDYN_uc021vzs.1_Missense_Mutation_p.V7I|PDYN_uc021vzt.1_Missense_Mutation_p.V7I|PDYN_uc021vzu.1_Missense_Mutation_p.V7I|PDYN_uc002wfv.3_Missense_Mutation_p.V7I NM_001190892 NP_077722 P01213 PDYN_HUMAN Homo sapiens prodynorphin (PDYN), transcript variant 3, mRNA. 7 cell death|neuropeptide signaling pathway|synaptic transmission extracellular region|plasma membrane opioid peptide activity endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 GCAGCCAGGACCAGCCCCTGC 0.552000 47 5 0 0 0.021553 0 0 OR4N2 390429 broad.mit.edu 37 14 20296445 20296445 + Missense_Mutation SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr14:20296445C>T uc010tkv.2 + 0 838 c.838C>T c.(838-840)Cct>Tct p.P280S NM_001004723 NP_001004723 Q8NGD1 OR4N2_HUMAN Homo sapiens olfactory receptor, family 4, subfamily N, member 2 (OR4N2), mRNA. 280 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2) 52 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) AGTGATTTTTCCTTTGTTGAA 0.438000 99 5 0 0 0.014758 0 0 SYTL5 94122 broad.mit.edu 37 X 37893191 37893191 + Missense_Mutation SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chrX:37893191G>A uc004ddx.3 + 0 405 c.49G>A c.(49-51)Gag>Aag p.E17K SYTL5_uc004ddu.3_Missense_Mutation_p.E17K|SYTL5_uc004ddv.3_Missense_Mutation_p.E17K NM_001163334 NP_001156806 Q8TDW5 SYTL5_HUMAN Homo sapiens synaptotagmin-like 5 (SYTL5), transcript variant 3, mRNA. 17 RabBD. intracellular protein transport membrane Rab GTPase binding|metal ion binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1) 44 ATTAGATCATGAGAAGGAAAT 0.373000 25 4 0 0 0.009096 0 0 ATP11C 286410 broad.mit.edu 37 X 138820208 138820208 + Missense_Mutation SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chrX:138820208C>T uc004faz.3 - 27 3263 c.3164G>A c.(3163-3165)aGa>aAa p.R1055K ATP11C_uc004fax.3_Missense_Mutation_p.R263K|ATP11C_uc004fay.3_Non-coding_Transcript|ATP11C_uc004fba.3_Missense_Mutation_p.R1055K NM_173694 NP_775965 Q8NB49 AT11C_HUMAN Homo sapiens ATPase, class VI, type 11C (ATP11C), transcript variant 1, mRNA. 1055 ATP biosynthetic process integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3) 75 Acute lymphoblastic leukemia(192;0.000127) AAAATACATTCTCTGTTGCTT 0.343000 30 8 0 0 0.008291 0 0 APOB 338 broad.mit.edu 37 2 21229891 21229891 + Silent SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr2:21229891G>A uc002red.3 - 25 9977 c.9849C>T c.(9847-9849)ttC>ttT p.F3283F NM_000384 NP_000375 P04114 APOB_HUMAN Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA. 3283 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) CTAGGATGGAGAAACTAGGCA 0.463000 538 18 0 0 0.007413 0 0 POP1 10940 broad.mit.edu 37 8 99146184 99146184 + Missense_Mutation SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr8:99146184C>T uc003yij.4 + 5 843 c.743C>T c.(742-744)tCc>tTc p.S248F POP1_uc011lgv.2_Missense_Mutation_p.S248F|POP1_uc003yik.3_Missense_Mutation_p.S248F NM_001145860 NP_055844 Q99575 POP1_HUMAN Homo sapiens processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae) (POP1), transcript variant 1, mRNA. 248 tRNA 5'-leader removal|tRNA catabolic process nucleolar ribonuclease P complex|ribonuclease MRP complex identical protein binding|ribonuclease MRP activity|ribonuclease P activity autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 Breast(36;1.78e-06) OV - Ovarian serous cystadenocarcinoma(57;0.145) CAGGATTTATCCTATTACTGT 0.388000 86 6 0 0 0.001984 0 0 HLA-DMA 3108 broad.mit.edu 37 6 32917102 32917102 + Missense_Mutation SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr6:32917102C>T uc003ocm.2 - 3 813 c.727G>A c.(727-729)Ggc>Agc p.G243S NM_006120 NP_006111 Q31604 Q31604_HUMAN Homo sapiens major histocompatibility complex, class II, DM alpha (HLA-DMA), mRNA. 243 MHC class II protein complex|integral to membrane kidney(1)|large_intestine(2)|lung(8) 11 ACGATGATGCCCAGCACACCC 0.587000 44 4 0 0 0.009096 0 0 C1QTNF2 114898 broad.mit.edu 37 5 159782013 159782013 + Silent SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr5:159782013G>A uc003lyd.3 - 1 145 c.141C>T c.(139-141)atC>atT p.I47I NM_031908 NP_114114 Q9BXJ5 C1QT2_HUMAN Homo sapiens C1q and tumor necrosis factor related protein 2 (C1QTNF2), mRNA. 2 Collagen-like. 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) GCACCCAGGGGATCATGGTGG 0.632000 21 4 0 0 0.009096 0 0 NLRP4 147945 broad.mit.edu 37 19 56370010 56370010 + Missense_Mutation SNP C G G TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr19:56370010C>G uc002qmd.4 + 2 1673 c.1251C>G c.(1249-1251)gaC>gaG p.D417E NLRP4_uc002qmf.3_Missense_Mutation_p.D342E|NLRP4_uc010etf.3_Missense_Mutation_p.D248E NM_134444 NP_604393 Q96MN2 NALP4_HUMAN Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA. 417 NACHT. ATP binding p.D417D(1) 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) TTTGTGAAGACGACCTCCGGA 0.587000 110 6 0 0 0.001984 0 0 PRKCZ 5590 broad.mit.edu 37 1 2082350 2082350 + Missense_Mutation SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr1:2082350G>A uc001aiq.3 + 8 970 c.809G>A c.(808-810)cGg>cAg p.R270Q PRKCZ_uc001air.3_Missense_Mutation_p.R87Q|PRKCZ_uc010nyw.2_Missense_Mutation_p.R166Q|PRKCZ_uc001ais.3_Missense_Mutation_p.R87Q|PRKCZ_uc010nyx.2_Non-coding_Transcript|PRKCZ_uc009vlb.3_Missense_Mutation_p.R83Q NM_002744 NP_001028754 Q05513 KPCZ_HUMAN Homo sapiens protein kinase C, zeta (PRKCZ), transcript variant 1, mRNA. 270 Protein kinase. anti-apoptosis|intracellular signal transduction|negative regulation of insulin receptor signaling pathway|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein complex assembly|peptidyl-serine phosphorylation|platelet activation endosome ATP binding|protein kinase C activity|zinc ion binding breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(5)|lung(5)|stomach(1) 18 all_cancers(77;0.000177)|all_epithelial(69;6.41e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128) Epithelial(90;2.96e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.3e-23)|GBM - Glioblastoma multiforme(42;2.85e-08)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00294)|BRCA - Breast invasive adenocarcinoma(365;0.00493)|STAD - Stomach adenocarcinoma(132;0.00669)|KIRC - Kidney renal clear cell carcinoma(229;0.0411)|Lung(427;0.213) CTCCTGGTGCGGTTGAAGAAG 0.557000 67 4 0 0 0.014758 0 0 GPR34 2857 broad.mit.edu 37 X 41555476 41555476 + Missense_Mutation SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chrX:41555476G>A uc022bvc.1 + 0 590 c.590G>A c.(589-591)gGa>gAa p.G197E CASK_uc004dfl.4_Intron|CASK_uc004dfm.4_Intron|CASK_uc004dfn.4_Intron|GPR34_uc004dfp.4_Missense_Mutation_p.G197E|GPR34_uc004dfq.4_Missense_Mutation_p.G197E|GPR34_uc010nhg.3_Missense_Mutation_p.G197E|GPR34_uc004dfr.4_Missense_Mutation_p.G197E NM_005300 NP_005291 Q9UPC5 GPR34_HUMAN Homo sapiens G protein-coupled receptor 34 (GPR34), transcript variant 1, mRNA. 197 integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled breast(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1) 14 CTTAAGAAAGGAGGGCATAAT 0.343000 19 3 0 0 0.004672 0 0 KIAA0195 9772 broad.mit.edu 37 17 73491074 73491074 + Missense_Mutation SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr17:73491074G>A uc010wsa.2 + 18 2909 c.2717G>A c.(2716-2718)aGc>aAc p.S906N KIAA0195_uc002jnz.4_Missense_Mutation_p.S896N|KIAA0195_uc010wsb.2_Missense_Mutation_p.S536N|KIAA0195_uc002job.4_5'Flank NM_014738 NP_055553 Q12767 K0195_HUMAN Homo sapiens KIAA0195 (KIAA0195), mRNA. 896 ATP biosynthetic process|cation transport integral to membrane ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1) 42 all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246) all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154) CCCCCCTCCAGCCCCAGCCAC 0.622000 101 8 0 0 0.003080 0 0 KIAA1407 57577 broad.mit.edu 37 3 113684045 113684045 + Missense_Mutation SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr3:113684045G>A uc003eax.3 - 16 2915 c.2768C>T c.(2767-2769)tCa>tTa p.S923L NM_020817 NP_065868 Q8NCU4 K1407_HUMAN Homo sapiens KIAA1407 (KIAA1407), mRNA. 923 p.S923L(2) endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1) 40 CCAAGTATCTGATTGCTGATA 0.428000 86 5 0 0 0.021553 0 0 FFAR3 2865 broad.mit.edu 37 19 35862375 35862375 + Silent SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr19:35862375C>T uc021usn.1 + 0 119 c.114C>T c.(112-114)gtC>gtT p.V38V NM_005304 NP_005295 O14843 FFAR3_HUMAN Homo sapiens free fatty acid receptor 3 (FFAR3), mRNA. 38 integral to plasma membrane G-protein coupled receptor activity|lipid binding endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1) 17 all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162) Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221) CCCTGGTGGTCTTCGTGGGCA 0.642000 52 5 0 0 0.001984 0 0 TNS4 84951 broad.mit.edu 37 17 38643407 38643407 + Missense_Mutation SNP C T T rs150836111 byFrequency TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr17:38643407C>T uc010cxb.3 - 3 1333 c.1169G>A c.(1168-1170)cGg>cAg p.R390Q NM_032865 NP_116254 Q8IZW8 TENS4_HUMAN Homo sapiens tensin 4 (TNS4), mRNA. 390 apoptosis|protein localization cytoplasm|cytoskeleton|focal adhesion actin binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 30 Breast(137;0.000496) STAD - Stomach adenocarcinoma(5;5.91e-05) TCCTGGGGTCCGCTGGGGTGG 0.617000 203 8 0 0 0.003080 0 0 OSMR 9180 broad.mit.edu 37 5 38869197 38869197 + Silent SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr5:38869197C>T uc003jln.2 + 1 453 c.51C>T c.(49-51)tcC>tcT p.S17S OSMR_uc003jlm.2_Silent_p.S17S NM_003999 NP_003990 Q99650 OSMR_HUMAN Homo sapiens oncostatin M receptor (OSMR), transcript variant 1, mRNA. 17 cell proliferation|positive regulation of cell proliferation oncostatin-M receptor complex growth factor binding|oncostatin-M receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 46 all_lung(31;0.000365) CATTGCTGTCCTTGAGGACTT 0.348000 77 5 0 0 0.021553 0 0 MCHR2 84539 broad.mit.edu 37 6 100368900 100368900 + Silent SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr6:100368900G>A uc003pqh.1 - 5 1254 c.939C>T c.(937-939)ttC>ttT p.F313F MCHR2_uc003pqi.1_Silent_p.F313F NM_001040179 NP_115892 Q969V1 MCHR2_HUMAN Homo sapiens melanin-concentrating hormone receptor 2 (MCHR2), transcript variant 1, mRNA. 313 integral to membrane|plasma membrane G-protein coupled receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 39 all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069) BRCA - Breast invasive adenocarcinoma(108;0.0429) GACGTTTCTGGAAATTTCCAC 0.438000 119 9 0 0 0.008291 0 0 AK022914 0 broad.mit.edu 37 14 19857036 19857036 + RNA SNP A G G TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr14:19857036A>G uc001vvq.1 - 4 c.494T>C Homo sapiens cDNA FLJ12852 fis, clone NT2RP2003445. CTGGATAATAAAGTTCATCTC 0.373000 154 8 0 0 0.003080 0 0 HECW1 23072 broad.mit.edu 37 7 43436449 43436449 + Missense_Mutation SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr7:43436449G>A uc003tid.1 + 6 1197 c.592G>A c.(592-594)Gga>Aga p.G198R HECW1_uc011kbi.1_Missense_Mutation_p.G198R|HECW1_uc003tie.1_Missense_Mutation_p.G230R NM_015052 NP_055867 Q76N89 HECW1_HUMAN Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA. 198 C2. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3) 125 GACCGTCCAAGGACAAGGAAG 0.418000 70 6 0 0 0.021553 0 0 RYR3 6263 broad.mit.edu 37 15 33962623 33962623 + Missense_Mutation SNP T G G TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr15:33962623T>G uc001zhi.3 + 37 5796 c.5726T>G c.(5725-5727)gTt>gGt p.V1909G RYR3_uc010bar.3_Missense_Mutation_p.V1909G NM_001036 NP_001027 Q15413 RYR3_HUMAN Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA. 1909 4 X approximate repeats. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity p.V1909G(2) 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) TTGCTAGGGGTTCCTTTggaa 0.473000 30 8 0 0 0.024245 0 0 SH3TC2 79628 broad.mit.edu 37 5 148422290 148422290 + Missense_Mutation SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr5:148422290C>T uc003lpu.3 - 4 648 c.496G>A c.(496-498)Gaa>Aaa p.E166K SH3TC2_uc003lpp.1_Non-coding_Transcript|SH3TC2_uc003lps.3_5'Flank|SH3TC2_uc003lpt.3_5'UTR|SH3TC2_uc010jgx.3_Missense_Mutation_p.E159K|SH3TC2_uc003lpv.1_5'UTR|SH3TC2_uc011dbz.1_Missense_Mutation_p.E51K NM_024577 NP_078853 Q8TF17 S3TC2_HUMAN Homo sapiens SH3 domain and tetratricopeptide repeats 2 (SH3TC2), mRNA. 166 binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 39 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TATATTGTTTCCAGGTGTTTA 0.438000 67 5 0 0 0.021553 0 0 RHBDL1 9028 broad.mit.edu 37 16 727045 727045 + Silent SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr16:727045G>A uc002cis.1 + 2 723 c.696G>A c.(694-696)aaG>aaA p.K232K RHBDL1_uc002cir.1_Silent_p.K167K|RHBDL1_uc010uun.1_Silent_p.K167K NM_003961 NP_003952 O75783 RHBL1_HUMAN Homo sapiens rhomboid, veinlet-like 1 (Drosophila) (RHBDL1), mRNA. 232 proteolysis|signal transduction integral to plasma membrane|membrane fraction calcium ion binding|serine-type endopeptidase activity endometrium(1)|kidney(1)|lung(4)|urinary_tract(3) 9 Hepatocellular(780;0.0218) AGTACATGAAGAGCCCCCTTG 0.622000 43 4 0 0 0.014758 0 0 PYGO1 26108 broad.mit.edu 37 15 55838810 55838810 + Missense_Mutation SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr15:55838810G>A uc002adf.1 - 2 671 c.671C>T c.(670-672)cCt>cTt p.P224L PYGO1_uc010bfl.1_Missense_Mutation_p.P224L NM_015617 NP_056432 Q9Y3Y4 PYGO1_HUMAN Homo sapiens pygopus homolog 1 (Drosophila) (PYGO1), mRNA. 224 Asn-rich. Wnt receptor signaling pathway nucleus zinc ion binding endometrium(4)|kidney(2)|large_intestine(6)|lung(6)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 27 all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18) GTTTGGGGGAGGAATAAAAGA 0.378000 89 5 0 0 0.014758 0 0 TBP 6908 broad.mit.edu 37 6 170871052 170871052 + Silent SNP G A A rs112083427 TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr6:170871052G>A uc003qxu.3 + 2 507 c.228G>A c.(226-228)caG>caA p.Q76Q TBP_uc011ehf.2_Silent_p.Q56Q|TBP_uc003qxt.3_Silent_p.Q76Q|TBP_uc011ehg.1_Silent_p.Q76Q NM_003194 NP_001165556 P20226 TBP_HUMAN Homo sapiens TATA box binding protein (TBP), transcript variant 1, mRNA. 76 Poly-Gln. cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction transcription factor TFIIA complex|transcription factor TFIID complex repressing transcription factor binding|transcription regulatory region DNA binding p.Q76Q(8)|p.Q75Q(2) breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1) 26 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591) agcaacagcagcagcagcagc 0.572000 28 7 0 0 0.001984 0 0 PCDH18 54510 broad.mit.edu 37 4 138450896 138450896 + Missense_Mutation SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr4:138450896G>A uc003ihe.4 - 0 2734 c.2347C>T c.(2347-2349)Cct>Tct p.P783S PCDH18_uc003ihf.4_Missense_Mutation_p.P776S|PCDH18_uc011cgz.2_Intron|PCDH18_uc003ihg.4_Missense_Mutation_p.P563S|PCDH18_uc011cha.2_Intron NM_019035 NP_061908 Q9HCL0 PCD18_HUMAN Homo sapiens protocadherin 18 (PCDH18), mRNA. 783 brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_hematologic(180;0.24) TCTAAGGTAGGAGATGAAGAT 0.507000 44 5 0 0 0.021553 0 0 CRB1 23418 broad.mit.edu 37 1 197404165 197404165 + Missense_Mutation SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr1:197404165G>A uc001gtz.3 + 8 3381 c.3172G>A c.(3172-3174)Gaa>Aaa p.E1058K CRB1_uc010poz.2_Missense_Mutation_p.E1034K|CRB1_uc009wza.3_Missense_Mutation_p.E946K|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Intron|CRB1_uc010ppd.2_Missense_Mutation_p.E539K|CRB1_uc001gub.1_Missense_Mutation_p.E707K NM_201253 NP_957705 P82279 CRUM1_HUMAN Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA. 1058 Laminin G-like 3. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding p.E1058K(2) NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 AGTGGACAACGAAACACCTTT 0.443000 67 6 0 0 0.021553 0 0 TAP2 6891 broad.mit.edu 37 6 32782883 32782883 + Missense_Mutation SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr6:32782883G>A uc011dqf.1 - 12 2242 c.2120C>T c.(2119-2121)gCc>gTc p.A707V TAP2_uc003oca.3_Missense_Mutation_p.A100V|TAP2_uc011dqg.1_Missense_Mutation_p.A100V NM_018833 NP_061313 Q03519 TAP2_HUMAN Homo sapiens transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) (TAP2), transcript variant 2, mRNA. 0 antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of T cell mediated cytotoxicity|positive regulation of antigen processing and presentation of peptide antigen via MHC class I TAP complex|nucleus|plasma membrane ATP binding|MHC class I protein binding|TAP1 binding|TAP2 binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|tapasin binding CCCATCCACGGCCTGTCTGCT 0.592000 42 4 0 0 0.009096 0 0 HDAC11 79885 broad.mit.edu 37 3 13544405 13544405 + Missense_Mutation SNP T C C TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr3:13544405T>C uc003bxy.3 + 7 707 c.574T>C c.(574-576)Ttc>Ctc p.F192L HDAC11_uc010heb.3_Silent_p.T149T|HDAC11_uc011aux.2_5'UTR|HDAC11_uc011auy.2_Missense_Mutation_p.F141L NM_024827 NP_079103 Q96DB2 HDA11_HUMAN Homo sapiens histone deacetylase 11 (HDAC11), transcript variant 1, mRNA. 192 Histone deacetylase. regulation of transcription, DNA-dependent|transcription, DNA-dependent histone deacetylase complex|plasma membrane NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|transcription factor binding breast(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(4)|prostate(3) 13 TGAGCGAGACTTCATGGACGA 0.612000 255 7 0 0 0.003080 0 0 MEGF11 84465 broad.mit.edu 37 15 66262970 66262970 + Missense_Mutation SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr15:66262970C>T uc002apm.2 - 7 961 c.820G>A c.(820-822)Gat>Aat p.D274N MEGF11_uc002apl.2_Missense_Mutation_p.D199N|MEGF11_uc002apn.1_Missense_Mutation_p.D274N NM_032445 NP_115821 A6BM72 MEG11_HUMAN Homo sapiens multiple EGF-like-domains 11 (MEGF11), mRNA. 274 EGF-like 5. basolateral plasma membrane|integral to membrane breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 19 CAAGGACAATCCTGGCTGCAG 0.552000 31 3 0 0 0.004672 0 0 SYT1 6857 broad.mit.edu 37 12 79689912 79689912 + Missense_Mutation SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr12:79689912C>T uc001sys.3 + 7 1209 c.538C>T c.(538-540)Cct>Tct p.P180S SYT1_uc001syt.3_Missense_Mutation_p.P180S|SYT1_uc001syu.3_Missense_Mutation_p.P177S|SYT1_uc001syv.3_Missense_Mutation_p.P180S NM_001135805 NP_005630 P21579 SYT1_HUMAN Homo sapiens synaptotagmin I (SYT1), transcript variant 2, mRNA. 180 C2 1.|Phospholipid binding (Probable). detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane 1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity p.P180S(2)|p.P180L(1) NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6) 25 CACATCTGATCCTTACGTGAA 0.423000 66 4 0 0 0.009096 0 0 TCHHL1 126637 broad.mit.edu 37 1 152059079 152059079 + Missense_Mutation SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr1:152059079G>A uc001ezo.1 - 2 1144 c.1079C>T c.(1078-1080)tCt>tTt p.S360F NM_001008536 NP_001008536 Q5QJ38 TCHL1_HUMAN Homo sapiens trichohyalin-like 1 (TCHHL1), mRNA. 360 calcium ion binding breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1) 60 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.246) TTGGGTCTCAGATGTTCTGCC 0.423000 212 7 0 0 0.001984 0 0 PLG 5340 broad.mit.edu 37 6 161162437 161162437 + Missense_Mutation SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr6:161162437G>A uc003qtm.4 + 16 2225 c.2113G>A c.(2113-2115)Gga>Aga p.G705R NM_000301 NP_000292 P00747 PLMN_HUMAN Homo sapiens plasminogen (PLG), transcript variant 1, mRNA. 705 Peptidase S1. 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 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) CACTGGCTGGGGAGAAACCCA 0.458000 50 5 0 0 0.021553 0 0 ATXN1 6310 broad.mit.edu 37 6 16326840 16326840 + Missense_Mutation SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr6:16326840G>A uc003nbt.3 - 7 2673 c.1702C>T c.(1702-1704)Cct>Tct p.P568S ATXN1_uc010jpi.3_Missense_Mutation_p.P568S|ATXN1_uc010jpj.1_Intron NM_000332 NP_001121636 P54253 ATX1_HUMAN Homo sapiens ataxin 1 (ATXN1), transcript variant 1, mRNA. 568 AXH.|Interaction with USP7.|RNA-binding.|Self-association. RNA processing|cell death|negative regulation of transcription, DNA-dependent|nuclear export cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein C-terminus binding|protein binding|protein self-association NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2) 44 Breast(50;0.063)|Ovarian(93;0.0733) all_hematologic(90;0.000682)|Ovarian(999;0.00973) GGCAGCGTAGGGGGAGCCGCC 0.612000 75 4 0 0 0.009096 0 0 NPSR1 387129 broad.mit.edu 37 7 34888237 34888237 + Silent SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr7:34888237C>T uc003teh.1 + 7 1115 c.987C>T c.(985-987)atC>atT p.I329I NPSR1-AS1_uc010kwq.2_Intron|NPSR1-AS1_uc011kaq.1_Intron|NPSR1_uc003teg.1_Silent_p.I329I|NPSR1_uc010kwt.1_Silent_p.I176I|NPSR1_uc010kwu.1_Silent_p.I119I|NPSR1_uc010kwv.1_Silent_p.I263I|NPSR1_uc003tei.1_Silent_p.I329I|NPSR1_uc010kww.1_Silent_p.I318I|NPSR1_uc011kar.1_Silent_p.I263I NM_207173 NP_997056 Q6W5P4 NPSR1_HUMAN Homo sapiens neuropeptide S receptor 1 (NPSR1), transcript variant 2, mRNA. 329 cytoplasm|integral to membrane|plasma membrane vasopressin receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7) 31 Halothane(DB01159) ACCCCCTCATCTACTGTGTCT 0.517000 154 7 0 0 0.003080 0 0 YWHAE 7531 broad.mit.edu 37 17 1264404 1264404 + Missense_Mutation SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr17:1264404G>A uc002fsj.3 - 3 712 c.560C>T c.(559-561)tCc>tTc p.S187F YWHAE_uc002fsk.3_Missense_Mutation_p.S165F|YWHAE_uc010vqh.2_Non-coding_Transcript|YWHAE_uc010vqi.2_Intron NM_006761 NP_006752 P62258 1433E_HUMAN Homo sapiens tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide (YWHAE), transcript variant 1, mRNA. 187 G2/M transition of mitotic cell cycle|apoptosis|induction of apoptosis by extracellular signals|interspecies interaction between organisms|intracellular signal transduction|nerve growth factor receptor signaling pathway cytosol|melanosome histone deacetylase binding|phosphoserine binding kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1) 14 OV - Ovarian serous cystadenocarcinoma(18;0.203) UCEC - Uterine corpus endometrioid carcinoma (25;0.0887) ACGGTCAGGGGAATTAAGAAT 0.483000 T """FAM22a, FAM22B""" edometrial stromal sarcoma Miller-Dieker lissencephaly syndrome 70 6 0 0 0.003080 0 0 SAMD4A 23034 broad.mit.edu 37 14 55236885 55236885 + Missense_Mutation SNP C T T rs146324552 TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr14:55236885C>T uc001xbb.3 + 7 1965 c.1657C>T c.(1657-1659)Cgg>Tgg p.R553W SAMD4A_uc001xbc.3_Missense_Mutation_p.R466W|SAMD4A_uc001xbg.2_Missense_Mutation_p.R145W NM_015589 NP_056404 Q9UPU9 SMAG1_HUMAN Homo sapiens sterile alpha motif domain containing 4A (SAMD4A), transcript variant 1, mRNA. 554 positive regulation of translation cell junction|cytoplasm|dendrite|synapse|synaptosome translation repressor activity p.R553W(2) breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1) 29 GAAGCTCTTTCGGTCTTTCCC 0.423000 91 6 0 0 0.021553 0 0 TIE1 7075 broad.mit.edu 37 1 43777469 43777469 + Silent SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr1:43777469G>A uc001ciu.3 + 9 1638 c.1461G>A c.(1459-1461)caG>caA p.Q487Q TIE1_uc010okd.2_Silent_p.Q487Q|TIE1_uc010oke.2_Silent_p.Q442Q|TIE1_uc009vwq.3_Silent_p.Q443Q|TIE1_uc010okf.1_Silent_p.Q132Q|TIE1_uc010okg.2_Silent_p.Q132Q NM_005424 NP_005415 P35590 TIE1_HUMAN Homo sapiens tyrosine kinase with immunoglobulin-like and EGF-like domains 1 (TIE1), transcript variant 1, mRNA. 487 Fibronectin type-III 1. mesoderm development integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 70 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) ACCGGCCCCAGGACAGTACCA 0.607000 80 5 0 0 0.021553 0 0 RBMY1A3P 286557 broad.mit.edu 37 Y 9160470 9160470 + RNA SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chrY:9160470C>T uc004frl.1 - 0 c.14G>A Homo sapiens RNA binding motif protein, Y-linked, family 1, member A3 pseudogene (RBMY1A3P), non-coding RNA. GATGATCTGCCTCTACCATTG 0.333000 30 3 0 0 0.004672 0 0 NELL2 4753 broad.mit.edu 37 12 45105149 45105149 + Missense_Mutation SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr12:45105149G>A uc010skz.1 - 11 1390 c.1265C>T c.(1264-1266)tCa>tTa p.S422L NELL2_uc001rof.3_Missense_Mutation_p.S371L|NELL2_uc001rog.2_Missense_Mutation_p.S372L|NELL2_uc001roh.2_Missense_Mutation_p.S372L|NELL2_uc009zkd.2_Missense_Mutation_p.S371L|NELL2_uc010sla.1_Missense_Mutation_p.S395L|NELL2_uc001roi.1_Missense_Mutation_p.S372L|NELL2_uc010slb.1_Missense_Mutation_p.S371L|NELL2_uc001roj.2_Missense_Mutation_p.S372L NM_001145107 NP_006150 Q99435 NELL2_HUMAN Homo sapiens NEL-like 2 (chicken) (NELL2), transcript variant 1, mRNA. 372 EGF-like 1. cell adhesion extracellular region calcium ion binding|protein binding|structural molecule activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 65 Lung SC(27;0.192) Lung NSC(34;0.144) GBM - Glioblastoma multiforme(48;0.092) TGGACAGCCTGAACTCTCAAC 0.388000 40 4 0 0 0.014758 0 0 ZCCHC2 54877 broad.mit.edu 37 18 60241404 60241404 + Missense_Mutation SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr18:60241404G>A uc002lip.4 + 12 2090 c.2090G>A c.(2089-2091)gGa>gAa p.G697E ZCCHC2_uc002lio.2_Non-coding_Transcript|ZCCHC2_uc002liq.3_Missense_Mutation_p.G167E NM_017742 NP_060212 Q9C0B9 ZCHC2_HUMAN Homo sapiens zinc finger, CCHC domain containing 2 (ZCCHC2), mRNA. 697 cell communication cytoplasm nucleic acid binding|phosphatidylinositol binding|zinc ion binding breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 25 GCTTCACTAGGAAATGAGAAT 0.423000 142 11 0 0 0.013537 0 0 IGSF22 283284 broad.mit.edu 37 11 18745706 18745706 + Silent SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr11:18745706C>T uc009yht.2 - 1 268 c.78G>A c.(76-78)caG>caA p.Q26Q IGSF22_uc001mpa.2_Non-coding_Transcript NM_173588 NP_775859 Q8N9C0 IGS22_HUMAN Homo sapiens immunoglobulin superfamily, member 22 (IGSF22), mRNA. 26 NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3) 56 GGGAGAAGGTCTGCACGTGGG 0.602000 124 7 0 0 0.001984 0 0 TSSK3 81629 broad.mit.edu 37 1 32829396 32829396 + Missense_Mutation SNP C T T rs138699524 TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr1:32829396C>T uc001bvf.3 + 1 787 c.346C>T c.(346-348)Cgt>Tgt p.R116C LOC100128071_uc021oku.1_5'Flank NM_052841 NP_443073 Q96PN8 TSSK3_HUMAN Homo sapiens testis-specific serine kinase 3 (TSSK3), mRNA. 116 Protein kinase. cell differentiation|multicellular organismal development|spermatogenesis ATP binding|magnesium ion binding|protein serine/threonine kinase activity NS(1)|large_intestine(6)|lung(5)|skin(2)|stomach(1) 15 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.17)|Breast(348;0.212) GGCCCTCTTCCGTCAGATGGT 0.597000 95 7 0 0 0.001984 0 0 ALPK1 80216 broad.mit.edu 37 4 113346825 113346825 + Silent SNP C T T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr4:113346825C>T uc003ian.4 + 6 767 c.540C>T c.(538-540)acC>acT p.T180T ALPK1_uc011cfw.1_Non-coding_Transcript|ALPK1_uc003iap.4_Silent_p.T180T|ALPK1_uc011cfx.2_Silent_p.T102T|ALPK1_uc003iao.4_Non-coding_Transcript|ALPK1_uc010imo.3_5'UTR NM_001102406 NP_079420 Q96QP1 ALPK1_HUMAN Homo sapiens alpha-kinase 1 (ALPK1), transcript variant 2, mRNA. 180 ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1) 53 Ovarian(17;0.0446)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00325) TTTTAGGTACCTGGCTGTACA 0.388000 112 5 0 0 0.021553 0 0 RPTN 126638 broad.mit.edu 37 1 152127905 152127905 + Missense_Mutation SNP G A A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr1:152127905G>A uc001ezs.1 - 2 1735 c.1670C>T c.(1669-1671)tCc>tTc p.S557F NM_001122965 NP_001116437 Q6XPR3 RPTN_HUMAN Homo sapiens repetin (RPTN), mRNA. 557 Gln-rich. proteinaceous extracellular matrix calcium ion binding p.S557S(1) breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 59 ACCGTAGTGGGAACTCTGGCC 0.517000 561 18 0 0 0.007413 0 0 MST1P2 11209 broad.mit.edu 37 1 16974141 16974141 + RNA DEL G - - TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr1:16974141delG uc009vow.2 + 4 c.951delG CROCCP2_uc001azg.1_5'Flank|CROCCP2_uc001azi.1_5'Flank|MST1P2_uc010ocg.1_Non-coding_Transcript|MST1P2_uc010och.2_Intron|MST1P2_uc010oci.1_Non-coding_Transcript|MST1P2_uc001azk.2_Intron|MST1P2_uc009vox.3_Intron|MST1P2_uc001azm.4_Intron Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA. TGGCTTGGCCGGGGAGGTCAG 0.667 --- 4 --- --- 2 --- UBXN11 91544 broad.mit.edu 37 1 26608878 26608883 + In_Frame_Del DEL CCGGGA - - rs1134580 TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr1:26608878_26608883delCCGGGA uc001blw.3 - 15 1743_1748 c.1470_1475delTCCCGG c.(1468-1476)ggtcccggc>ggc p.490_492GPG>G UBXN11_uc001bly.3_In_Frame_Del_p.370_372GPG>G|UBXN11_uc001blz.1_In_Frame_Del_p.457_459GPG>G|UBXN11_uc001blx.3_In_Frame_Del_p.248_250GPG>G|UBXN11_uc001bma.3_In_Frame_Del_p.457_459GPG>G NM_183008 NP_892120 Q5T124 UBX11_HUMAN Homo sapiens UBX domain protein 11 (UBXN11), transcript variant 2, mRNA. 490 3 X 8 AA tandem repeats of P-G-P-G-P-G-P- S.|Pro-rich. Missing. cytoplasm|cytoskeleton p.G490_P515delGPGPSPGPGPGPSPGPGPGPSPCPGP(2) endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3) 23 gggactggggccgggaccgggaccgg 0.718 --- 38 --- --- 7 --- HLA-C 3107 broad.mit.edu 37 6 31324737 31324737 + Frame_Shift_Del DEL G - - rs41563916 TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr6:31324737delG uc021yum.1 - 0 220 c.104delC c.(103-105)ccafs p.P35fs HLA-C_uc003ntf.2_Intron|HLA-C_uc003ntg.1_5'Flank|HLA-C_uc003nth.2_Intron|HLA-C_uc003nti.1_5'Flank|HLA-C_uc010jsn.1_5'Flank|HLA-C_uc010jso.2_5'Flank Q9TNN7 1C05_HUMAN SubName: Full=Major histocompatibility complex, class I, B; Flags: Fragment; 0 Alpha-1. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway MHC class I protein complex|integral to membrane central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 17 GTGGGAGCCTGGGGGTGAGGA 0.721 --- 6 --- --- 3 --- SSPO 23145 broad.mit.edu 37 7 149515189 149515189 + Splice_Site DEL A - - rs112122477 TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53983b06-67c9-4a3d-bd9e-08638e257a95 7e84ded3-0af1-4d76-95db-479d5f5a23e3 g.chr7:149515189delA uc010lpk.3 + 80 11568 c.11568_splice c.e80+2 p.E3856_splice NM_198455 NP_940857 A2VEC9 SSPO_HUMAN Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA. 3859 TSP type-1 16. cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) GACCTCGAGTAACTGCCCCAG 0.667 --- 10 --- --- 10 ---