Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut OR2AG2 338755 broad.mit.edu 37 11 6789736 6789736 + Silent SNP C C A TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr11:6789736C>A ENST00000338569.2 - 1 550 c.453G>T c.(451-453)ctG>ctT p.L151L NM_001004490.1 NP_001004490.1 A6NM03 O2AG2_HUMAN olfactory receptor, family 2, subfamily AG, member 2 151 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L151L(1) breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1) 28 Medulloblastoma(188;0.00776)|all_neural(188;0.0652) Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) TCAGGGATGCCAGGATCCAGG 0.512000 14 50 1.05317e-09 1.43094e-09 0.020292 1 0 TPO 7173 broad.mit.edu 37 2 1499849 1499849 + Missense_Mutation SNP A A G TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr2:1499849A>G ENST00000345913.4 + 12 2186 c.2095A>G c.(2095-2097)Act>Gct p.T699A TPO_ENST00000337415.3_Missense_Mutation_p.T699A|TPO_ENST00000329066.4_Missense_Mutation_p.T699A|TPO_ENST00000497517.2_Intron|TPO_ENST00000349624.3_Missense_Mutation_p.T526A|TPO_ENST00000382198.1_Missense_Mutation_p.T526A|TPO_ENST00000382201.3_Missense_Mutation_p.T642A|TPO_ENST00000346956.3_Missense_Mutation_p.T699A NM_000547.5 NP_000538.3 P07202 PERT_HUMAN thyroid peroxidase 699 cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity p.T699A(1) breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) CTGTGACAACACTGGCCTCAC 0.567000 4 31 0 0 0.014758 0 0 MTMR4 9110 broad.mit.edu 37 17 56573321 56573321 + Missense_Mutation SNP T T G TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr17:56573321T>G ENST00000323456.5 - 16 2306 c.2182A>C c.(2182-2184)Act>Cct p.T728P MTMR4_ENST00000579925.1_Missense_Mutation_p.T671P NM_004687.4 NP_004678.3 Q9NYA4 MTMR4_HUMAN myotubularin related protein 4 728 cytoplasm|membrane metal ion binding|protein tyrosine phosphatase activity p.T728P(1) breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5) 36 Medulloblastoma(34;0.127)|all_neural(34;0.237) GGTCCCTTAGTCTCTTCTAGG 0.493000 5 356 0 0 0.001984 0 0 RXRG 6258 broad.mit.edu 37 1 165398047 165398047 + Missense_Mutation SNP G G T TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr1:165398047G>T ENST00000359842.5 - 2 508 c.206C>A c.(205-207)cCa>cAa p.P69Q NM_001256570.1|NM_006917.4 NP_001243499.1|NP_008848.1 P48443 RXRG_HUMAN retinoid X receptor, gamma 69 Modulating (By similarity). regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding p.P69Q(1) endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 38 all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155) Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755) GACTCGATATGGAGAGCCCAG 0.607000 7 58 0.00307968 0.00339172 0.003080 1 0 CPSF6 11052 broad.mit.edu 37 12 69652445 69652445 + Missense_Mutation SNP A A G TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr12:69652445A>G ENST00000435070.2 + 6 880 c.770A>G c.(769-771)cAg>cGg p.Q257R CPSF6_ENST00000551516.1_Intron|CPSF6_ENST00000266679.8_Missense_Mutation_p.Q294R|CPSF6_ENST00000456847.3_Intron NM_007007.2 NP_008938.2 Q16630 CPSF6_HUMAN cleavage and polyadenylation specific factor 6, 68kDa 257 Pro-rich. mRNA polyadenylation|protein tetramerization mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex mRNA binding|nucleotide binding|protein binding p.Q257R(2) endometrium(1)|large_intestine(7)|lung(8) 16 all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187) Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241) CCTCCTGGTCAGGTTCTGCCT 0.567000 59 64 0 0 0.014410 0 0 PRKCB 5579 broad.mit.edu 37 16 23999883 23999883 + Missense_Mutation SNP C C A TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr16:23999883C>A ENST00000303531.7 + 3 412 c.260C>A c.(259-261)cCt>cAt p.P87H PRKCB_ENST00000321728.7_Missense_Mutation_p.P87H NM_002738.6 NP_002729.2 P05771 KPCB_HUMAN protein kinase C, beta 87 apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent cytosol|nucleus|plasma membrane androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding p.P87H(2) central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3) 9 Vitamin E(DB00163) TTCTCCTGCCCTGGCGCTGAC 0.498000 30 94 3.90053e-15 5.80436e-15 0.012213 1 0 SMARCA4 6597 broad.mit.edu 37 19 11136141 11136141 + Missense_Mutation SNP T T C TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr19:11136141T>C ENST00000358026.2 + 22 3409 c.3125T>C c.(3124-3126)cTg>cCg p.L1042P SMARCA4_ENST00000444061.3_Missense_Mutation_p.L1042P|SMARCA4_ENST00000589677.1_Missense_Mutation_p.L1042P|SMARCA4_ENST00000429416.3_Missense_Mutation_p.L1042P|SMARCA4_ENST00000344626.4_Missense_Mutation_p.L1042P|SMARCA4_ENST00000413806.3_Missense_Mutation_p.L1042P|SMARCA4_ENST00000590574.1_Missense_Mutation_p.L1042P|SMARCA4_ENST00000450717.3_Missense_Mutation_p.L1042P|SMARCA4_ENST00000541122.2_Missense_Mutation_p.L1042P NM_001128849.1 NP_001122321.1 P51532 SMCA4_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 1042 chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity p.L1042P(2)|p.?(1) adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 163 all_lung(6;0.0512)|Lung NSC(9;0.0568) ATCATGCAGCTGCGGAAGATC 0.632000 """F, N, Mis""" NSCLC 19 27 0 0 0.008871 0 0 IFITM3 10410 broad.mit.edu 37 11 319883 319883 + Silent SNP A A T TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr11:319883A>T ENST00000399808.4 - 2 593 c.357T>A c.(355-357)atT>atA p.I119I IFITM3_ENST00000526811.1_Silent_p.I98I|RP11-326C3.11_ENST00000602429.1_RNA|IFITM3_ENST00000602735.1_Silent_p.I98I|RP11-326C3.11_ENST00000602756.1_RNA NM_021034.2 NP_066362.2 Q01628 IFM3_HUMAN interferon induced transmembrane protein 3 119 response to virus|type I interferon-mediated signaling pathway integral to membrane|plasma membrane p.I119I(1) central_nervous_system(7)|endometrium(7)|kidney(2)|large_intestine(1)|lung(1) 18 all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122) CGATGAGCAGAATGGTCATGA 0.582000 7 58 0 0 0.003080 0 0 ZNF728 388523 broad.mit.edu 37 19 23159103 23159103 + Missense_Mutation SNP C C T TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr19:23159103C>T ENST00000594710.1 - 4 1181 c.1036G>A c.(1036-1038)Ggc>Agc p.G346S NM_001267716.1 NP_001254645.1 zinc finger protein 728 AAGGCTTTGCCACATTCTTCA 0.413000 13 63 0 0 0.013537 0 0 KDM5A 5927 broad.mit.edu 37 12 420113 420113 + Missense_Mutation SNP C C T TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr12:420113C>T ENST00000399788.2 - 21 3516 c.3154G>A c.(3154-3156)Gca>Aca p.A1052T KDM5A_ENST00000382815.4_Missense_Mutation_p.A1052T NM_001042603.1 NP_001036068.1 P29375 KDM5A_HUMAN lysine (K)-specific demethylase 5A 1052 chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleolus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding p.A1052T(2) NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2) 77 TCTCTCCATGCCCGTGCTGCT 0.483000 T NUP98 AML 4 172 0 0 0.009096 0 0 CCDC57 284001 broad.mit.edu 37 17 80151979 80151979 + Missense_Mutation SNP C C T TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr17:80151979C>T ENST00000392347.1 - 5 691 c.655G>A c.(655-657)Gaa>Aaa p.E219K CCDC57_ENST00000389641.4_Missense_Mutation_p.E219K|CCDC57_ENST00000392343.3_Missense_Mutation_p.E219K NM_198082.2 NP_932348.2 Q2TAC2 CCD57_HUMAN coiled-coil domain containing 57 219 p.E219K(2) endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1) 16 Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227) BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253) GCCCCGGCTTCCTTCAGAGCC 0.532000 55 59 0 0 0.014410 0 0 HSD17B7P2 158160 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 4 73 0 0 0.009096 0 0 VN1R2 317701 broad.mit.edu 37 19 53762797 53762797 + Missense_Mutation SNP A A G TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr19:53762797A>G ENST00000341702.3 + 1 1253 c.1169A>G c.(1168-1170)cAt>cGt p.H390R VN1R2_ENST00000598458.1_Intron NM_173856.2 NP_776255.2 Q8NFZ6 VN1R2_HUMAN vomeronasal 1 receptor 2 390 response to pheromone integral to membrane|plasma membrane pheromone receptor activity p.H390R(1) 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) CGATTCTTTCATGATTTCAGG 0.443000 32 67 0 0 0.010818 0 0 EIF2D 1939 broad.mit.edu 37 1 206772426 206772426 + Missense_Mutation SNP C C T TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr1:206772426C>T ENST00000271764.2 - 11 1431 c.1223G>A c.(1222-1224)gGc>gAc p.G408D EIF2D_ENST00000367114.3_Missense_Mutation_p.G284D NM_006893.2 NP_008824.2 P41214 EIF2D_HUMAN eukaryotic translation initiation factor 2D 408 intracellular protein transport cytoplasm protein binding|receptor activity|translation initiation factor activity p.G408D(1) autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 23 GACCTCACTGCCCTCCAGAAA 0.498000 11 71 0 0 0.008291 0 0 PTPRF 5792 broad.mit.edu 37 1 44069145 44069145 + Missense_Mutation SNP A A C TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr1:44069145A>C ENST00000359947.4 + 15 2739 c.2399A>C c.(2398-2400)tAt>tCt p.Y800S PTPRF_ENST00000372414.3_Missense_Mutation_p.Y800S|PTPRF_ENST00000422171.2_Missense_Mutation_p.Y148S|PTPRF_ENST00000372413.3_Missense_Mutation_p.Y791S|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000438120.1_Missense_Mutation_p.Y791S NM_002840.3 NP_002831.2 P10586 PTPRF_HUMAN protein tyrosine phosphatase, receptor type, F 800 Fibronectin type-III 5. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity p.Y790S(1) NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3) 72 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) GTTGCTGCCTATACCACCAAG 0.592000 18 63 0 0 0.007413 0 0 OR5AR1 219493 broad.mit.edu 37 11 56431534 56431534 + Missense_Mutation SNP G G T TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr11:56431534G>T ENST00000302969.2 + 1 397 c.373G>T c.(373-375)Gcc>Tcc p.A125S NM_001004730.1 NP_001004730.1 Q8NGP9 O5AR1_HUMAN olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene) 125 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A125S(1) NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1) 26 TCGTTTTGTGGCCATTTGTCG 0.512000 20 176 4.16121e-05 4.97753e-05 0.016522 1 0 F2 2147 broad.mit.edu 37 11 46750358 46750358 + Silent SNP G G T TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr11:46750358G>T ENST00000311907.5 + 11 1499 c.1443G>T c.(1441-1443)gtG>gtT p.V481V F2_ENST00000530231.1_Intron NM_000506.3 NP_000497.1 P00734 THRB_HUMAN coagulation factor II (thrombin) 481 Peptidase S1. activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein cytosol|endoplasmic reticulum lumen|extracellular space|Golgi lumen|plasma membrane|soluble fraction calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity p.V481V(1) endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1) 27 all_lung(304;0.000414)|Lung NSC(402;0.0011) BRCA - Breast invasive adenocarcinoma(625;0.146) Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898) TTCACCCTGTGTGTCTGCCCG 0.582000 21 68 7.33628e-21 1.1535e-20 0.014323 1 0 CLCN1 1180 broad.mit.edu 37 7 143018931 143018931 + Missense_Mutation SNP T T C TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr7:143018931T>C ENST00000343257.2 + 5 773 c.686T>C c.(685-687)gTg>gCg p.V229A CLCN1_ENST00000495612.1_3'UTR NM_000083.2 NP_000074.2 P35523 CLCN1_HUMAN chloride channel, voltage-sensitive 1 229 muscle contraction chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity p.V229A(1) breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 58 Melanoma(164;0.205) GGCATCCCCGTGGGGAAAGAG 0.597000 11 26 0 0 0.008291 0 0 SPON1 10418 broad.mit.edu 37 11 14287127 14287127 + RNA SNP G G A TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr11:14287127G>A ENST00000310358.7 + 0 2853 RP11-21L19.1_ENST00000534587.1_RNA Q9HCB6 SPON1_HUMAN spondin 1, extracellular matrix protein cell adhesion extracellular space|proteinaceous extracellular matrix protein binding p.G772E(1) NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1) 21 Epithelial(150;0.00898) TGCGGAGGTGGAATTCAGGAA 0.493000 3 20 0 0 0.004672 0 0 NPAP1 23742 broad.mit.edu 37 15 24924229 24924229 + Missense_Mutation SNP G G A TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr15:24924229G>A ENST00000329468.2 + 1 3689 c.3215G>A c.(3214-3216)gGg>gAg p.G1072E NM_018958.2 NP_061831.2 nuclear pore associated protein 1 p.G1072E(1) GCACCACAAGGGGCTAGCAAC 0.542000 15 74 0 0 0.003163 0 0 GPI 2821 broad.mit.edu 37 19 34868453 34868453 + Missense_Mutation SNP A A G TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr19:34868453A>G ENST00000356487.5 + 5 689 c.448A>G c.(448-450)Acg>Gcg p.T150A GPI_ENST00000415930.3_Intron|GPI_ENST00000586425.1_Missense_Mutation_p.T150A NM_000175.3 NP_000166.2 P06744 G6PI_HUMAN glucose-6-phosphate isomerase 150 angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response cytosol|extracellular space|nucleus|plasma membrane cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity p.T150A(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 25 Esophageal squamous(110;0.162) CAAGACCATCACGGACGTCAT 0.607000 20 60 0 0 0.016522 0 0 JAKMIP2 9832 broad.mit.edu 37 5 146997537 146997537 + Missense_Mutation SNP C C A TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr5:146997537C>A ENST00000265272.5 - 19 2750 c.2283G>T c.(2281-2283)aaG>aaT p.K761N JAKMIP2_ENST00000333010.6_Missense_Mutation_p.K719N|JAKMIP2_ENST00000507386.1_Missense_Mutation_p.K740N NM_014790.3 NP_055605.2 Q96AA8 JKIP2_HUMAN janus kinase and microtubule interacting protein 2 761 Golgi apparatus p.K761N(1) NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2) 64 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACTCTCTGCTCTTCCTCAGCA 0.463000 19 80 1.45105e-14 2.1339e-14 0.006122 1 0 NRSN1 140767 broad.mit.edu 37 6 24146171 24146171 + Silent SNP C C T TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr6:24146171C>T ENST00000378491.4 + 4 886 c.585C>T c.(583-585)acC>acT p.T195T NM_080723.4 NP_542454.3 Q8IZ57 NRSN1_HUMAN neurensin 1 195 nervous system development growth cone|integral to membrane|neuronal cell body|transport vesicle p.T195T(1) breast(1)|endometrium(2)|large_intestine(2)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 22 TACTGGCAACCTGAAACCTTT 0.498000 7 104 0 0 0.004482 0 0 CASP1 834 broad.mit.edu 37 11 104901057 104901057 + Splice_Site SNP C C A TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr11:104901057C>A ENST00000533400.1 - 5 662 c.627_splice c.e5+1 p.S209_splice CASP1_ENST00000446369.1_Splice_Site_p.S116_splice|CASP1_ENST00000534497.1_Splice_Site_p.S116_splice|CASP1_ENST00000528974.1_Splice_Site_p.S170_splice|CASP1_ENST00000393136.4_Splice_Site_p.S188_splice|CASP1_ENST00000593315.1_Splice_Site_p.S188_splice|CASP1_ENST00000531166.1_Intron|CASP1_ENST00000594519.1_Splice_Site_p.S116_splice|CASP1_ENST00000353247.5_Intron|CASP1_ENST00000598974.1_Splice_Site_p.S209_splice|CASP1_ENST00000527979.1_Splice_Site_p.S172_splice|CASP1_ENST00000436863.3_Splice_Site_p.S209_splice|CASP1_ENST00000415981.2_Intron|CASP1_ENST00000525825.1_Splice_Site_p.S188_splice|CASP1_ENST00000526568.1_Splice_Site_p.S116_splice NM_001257118.1 NP_001244047.1 P29466 CASP1_HUMAN caspase 1, apoptosis-related cysteine peptidase 209 cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction cytosol caspase activator activity|cysteine-type endopeptidase activity|protein binding p.S209S(1) haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2) 5 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047) BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482) Minocycline(DB01017)|Penicillamine(DB00859) TAGAACTTACCGAAGCAGTGA 0.378000 17 78 3.45872e-05 4.19747e-05 0.004007 1 0 SULT6B1 391365 broad.mit.edu 37 2 37406711 37406711 + Missense_Mutation SNP C C T rs11569744 byFrequency TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr2:37406711C>T ENST00000535679.1 - 4 418 c.419G>A c.(418-420)cGa>cAa p.R140Q SULT6B1_ENST00000379149.2_Intron|SULT6B1_ENST00000260637.3_Missense_Mutation_p.R102Q|SULT6B1_ENST00000407963.1_Missense_Mutation_p.R102Q Q6IMI4 ST6B1_HUMAN sulfotransferase family, cytosolic, 6B, member 1 140 cytoplasm sulfotransferase activity p.R102>?(1)|p.R102Q(1) NS(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(1) 12 all_hematologic(82;0.248) TTTAGGGTTTCGAAATATCAC 0.358000 33 65 0 0 0.012213 0 0 CYP19A1 1588 broad.mit.edu 37 15 51503033 51503033 + Missense_Mutation SNP C C T TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr15:51503033C>T ENST00000396402.1 - 10 1637 c.1484G>A c.(1483-1485)aGa>aAa p.R495K CYP19A1_ENST00000396404.4_Missense_Mutation_p.R495K|CYP19A1_ENST00000260433.2_Missense_Mutation_p.R495K|CYP19A1_ENST00000559878.1_Missense_Mutation_p.R495K|RP11-108K3.1_ENST00000559909.1_lincRNA NM_000103.3 NP_000094.2 P11511 CP19A_HUMAN cytochrome P450, family 19, subfamily A, polypeptide 1 495 estrogen biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|membrane fraction aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity p.R495K(1) endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 33 all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128) Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624) GTCTGAGTTTCTTGGGGTAAA 0.448000 41 133 0 0 0.010771 0 0 TAS2R39 259285 broad.mit.edu 37 7 142880730 142880730 + Silent SNP C C A TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr7:142880730C>A ENST00000446620.1 + 1 219 c.219C>A c.(217-219)ggC>ggA p.G73G NM_176881.2 NP_795362.2 P59534 T2R39_HUMAN taste receptor, type 2, member 39 73 sensory perception of taste integral to membrane G-protein coupled receptor activity p.G73G(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 20 Melanoma(164;0.059) CCACAAGTGGCAGGATCCTGG 0.403000 55 61 4.1673e-28 6.85412e-28 0.014410 1 0 ERO1L 30001 broad.mit.edu 37 14 53133133 53133133 + Missense_Mutation SNP A A T TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr14:53133133A>T ENST00000395686.3 - 7 812 c.589T>A c.(589-591)Tgg>Agg p.W197R NM_014584.1 NP_055399.1 Q96HE7 ERO1A_HUMAN ERO1-like (S. cerevisiae) 197 chaperone mediated protein folding requiring cofactor|electron transport chain|protein thiol-disulfide exchange|response to temperature stimulus|transport endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome disulfide oxidoreductase activity|flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor p.W197R(1) ERO1L/FERMT2(2) breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1) 12 Breast(41;0.226) CATATTTTCCAAGCATCTGGT 0.338000 4 21 0 0 0.009096 0 0 OR51A2 401667 broad.mit.edu 37 11 4976475 4976475 + Missense_Mutation SNP G G C TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr11:4976475G>C ENST00000380371.1 - 1 468 c.469C>G c.(469-471)Ctg>Gtg p.L157V MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron NM_001004748.1 NP_001004748.1 Q8NGJ7 O51A2_HUMAN olfactory receptor, family 51, subfamily A, member 2 157 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L157V(1) endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) GGAAGAACCAGGAGCATGCTC 0.433000 39 51 0 0 0.021022 0 0 SYT15 83849 broad.mit.edu 37 10 46968629 46968629 + Missense_Mutation SNP G G A TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr10:46968629G>A ENST00000374323.3 - 2 1053 c.466C>T c.(466-468)Ccc>Tcc p.P156S SYT15_ENST00000374325.3_Missense_Mutation_p.P103S|SYT15_ENST00000374321.4_Missense_Mutation_p.P103S|SYT15_ENST00000503753.1_Missense_Mutation_p.P103S Q9BQS2 SYT15_HUMAN synaptotagmin XV 103 C2 1. integral to membrane|plasma membrane p.P103S(2)|p.P155S(1) cervix(1)|endometrium(5)|kidney(2)|lung(5) 13 GCCGGGCAGGGGTCCCATGGG 0.682000 5 53 0 0 0.014758 0 0 SYNE1 23345 broad.mit.edu 37 6 152605151 152605151 + Missense_Mutation SNP T T A TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr6:152605151T>A ENST00000367255.5 - 96 18770 c.18169A>T c.(18169-18171)Atc>Ttc p.I6057F SYNE1_ENST00000265368.4_Missense_Mutation_p.I6057F|SYNE1_ENST00000448038.1_Missense_Mutation_p.I5986F|SYNE1_ENST00000341594.5_Missense_Mutation_p.I5669F|SYNE1_ENST00000423061.1_Missense_Mutation_p.I5986F|SYNE1_ENST00000356820.4_Missense_Mutation_p.I581F NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 6057 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding p.I6057F(2)|p.I5986F(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) TTCATCCTGATGGTGGACATT 0.532000 HNSCC(10;0.0054) 15 62 0 0 0.004990 0 0 ARMC5 79798 broad.mit.edu 37 16 31476170 31476170 + Missense_Mutation SNP G G A TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr16:31476170G>A ENST00000457010.2 + 4 2527 c.1826G>A c.(1825-1827)cGt>cAt p.R609H ARMC5_ENST00000538189.1_Missense_Mutation_p.R641H|ARMC5_ENST00000268314.4_Missense_Mutation_p.R609H|ARMC5_ENST00000412665.2_Missense_Mutation_p.R253H|ARMC5_ENST00000563544.1_Missense_Mutation_p.R609H|ARMC5_ENST00000408912.3_Missense_Mutation_p.R704H NM_024742.2 NP_079018.1 Q96C12 ARMC5_HUMAN armadillo repeat containing 5 609 binding p.R609H(1)|p.R704H(1) central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 28 CCGGCACCACGTGCCCGGCCC 0.701000 5 9 0 0 0.014758 0 0 RTN1 6252 broad.mit.edu 37 14 60193922 60193922 + Missense_Mutation SNP C C T TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr14:60193922C>T ENST00000267484.5 - 3 1815 c.1480G>A c.(1480-1482)Gcc>Acc p.A494T NM_021136.2 NP_066959.1 Q16799 RTN1_HUMAN reticulon 1 494 neuron differentiation integral to endoplasmic reticulum membrane signal transducer activity p.A494T(1) central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 49 OV - Ovarian serous cystadenocarcinoma(108;0.0968) GCATCCAGGGCGCTGGGCTTC 0.711000 3 9 0 0 0.004672 0 0 CCKBR 887 broad.mit.edu 37 11 6291371 6291371 + Missense_Mutation SNP T T A TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr11:6291371T>A ENST00000525462.1 + 3 460 c.457T>A c.(457-459)Tac>Aac p.Y153N CCKBR_ENST00000525014.1_3'UTR|CCKBR_ENST00000334619.2_Missense_Mutation_p.Y153N|CCKBR_ENST00000532715.1_Missense_Mutation_p.Y69N P32239 GASR_HUMAN cholecystokinin B receptor 139 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception 1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding p.Y153N(2) NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 61 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139) Pentagastrin(DB00183) ACTGGAGCGGTACAGCGCCAT 0.597000 9 40 0 0 0.006214 0 0 HDGFL1 154150 broad.mit.edu 37 6 22569816 22569816 + Silent SNP C C T TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr6:22569816C>T ENST00000510882.2 + 1 22 c.12C>T c.(10-12)taC>taT p.Y4Y HDGFL1_ENST00000230012.3_Silent_p.Y4Y Q5TGJ6 HDGL1_HUMAN hepatoma derived growth factor-like 1 4 p.Y4Y(1) kidney(1)|large_intestine(3)|lung(7) 11 Ovarian(93;0.163) TGTCGGCCTACGGCATGCCCA 0.647000 12 36 0 0 0.013537 0 0 CARS 833 broad.mit.edu 37 11 3059360 3059360 + Missense_Mutation SNP C C T rs12796489 byFrequency TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr11:3059360C>T ENST00000397114.3 - 7 818 c.442G>A c.(442-444)Gca>Aca p.A148T CARS-AS1_ENST00000499962.1_RNA|CARS_ENST00000397111.5_Missense_Mutation_p.A158T|CARS_ENST00000401769.3_Missense_Mutation_p.A171T|CARS_ENST00000278224.9_Missense_Mutation_p.A158T|CARS_ENST00000380525.4_Missense_Mutation_p.A241T P49589 SYCC_HUMAN cysteinyl-tRNA synthetase 158 cysteinyl-tRNA aminoacylation cytoplasm|cytosol ATP binding|cysteine-tRNA ligase activity|metal ion binding|protein homodimerization activity|tRNA binding p.A241T(1)|p.A158T(1) 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) AGCTGCACTGCGTGCTGAATC 0.483000 T ALK ALCL OREG0020690 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 23 83 0 0 0.014323 0 0 MAST3 23031 broad.mit.edu 37 19 18235123 18235123 + Missense_Mutation SNP G G C TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr19:18235123G>C ENST00000262811.5 + 9 805 c.805G>C c.(805-807)Gtc>Ctc p.V269L NM_015016.1 NP_055831.1 O60307 MAST3_HUMAN microtubule associated serine/threonine kinase 3 269 ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity p.V291L(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1) 31 CGTCCAGCTTGTCCGGAAACT 0.602000 3 8 0 0 0.004672 0 0 NEBL 10529 broad.mit.edu 37 10 21101768 21101768 + Silent SNP G G A TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr10:21101768G>A ENST00000377122.4 - 24 2844 c.2448C>T c.(2446-2448)gtC>gtT p.V816V NEBL_ENST00000377159.4_Silent_p.V119V|NEBL_ENST00000417816.2_Silent_p.V153V NM_006393.2 NP_006384.1 O76041 NEBL_HUMAN nebulette 816 regulation of actin filament length actin binding|structural constituent of muscle p.V816V(1)|p.V153V(1) NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 CAGCATCGCTGACCACCTGGG 0.512000 15 52 0 0 0.003163 0 0 F13A1 2162 broad.mit.edu 37 6 6167695 6167695 + Missense_Mutation SNP A A T TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr6:6167695A>T ENST00000264870.3 - 13 2169 c.1904T>A c.(1903-1905)aTc>aAc p.I635N NM_000129.3 NP_000120.2 P00488 F13A_HUMAN coagulation factor XIII, A1 polypeptide 635 peptide cross-linking|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity p.I635N(1) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 62 Ovarian(93;0.0816) all_hematologic(90;0.152) L-Glutamine(DB00130) ACTGACCTTGATGATGATCTC 0.498000 22 77 0 0 0.016522 0 0 SLC19A3 80704 broad.mit.edu 37 2 228567010 228567010 + Missense_Mutation SNP T T G TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr2:228567010T>G ENST00000258403.3 - 2 96 c.25A>C c.(25-27)Agc>Cgc p.S9R SLC19A3_ENST00000541617.1_5'UTR|SLC19A3_ENST00000409287.1_Missense_Mutation_p.S9R NM_025243.3 NP_079519.1 Q9BZV2 S19A3_HUMAN solute carrier family 19 (thiamine transporter), member 3 9 thiamine-containing compound metabolic process integral to membrane|plasma membrane folic acid binding|reduced folate carrier activity|thiamine uptake transmembrane transporter activity p.S9R(1) breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3) 30 Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236) Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125) L-Cysteine(DB00151) CAGGAACTGCTTAGTGAAGTT 0.393000 20 48 0 0 0.008871 0 0 OTUD7A 161725 broad.mit.edu 37 15 31819480 31819480 + Silent SNP C C A TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr15:31819480C>A ENST00000382902.1 - 5 776 c.684G>T c.(682-684)gtG>gtT p.V228V OTUD7A_ENST00000307050.4_Silent_p.V228V Q8TE49 OTU7A_HUMAN OTU domain containing 7A 228 Catalytic (By similarity).|OTU.|TRAF-binding (By similarity). cytoplasm|nucleus cysteine-type peptidase activity|DNA binding|zinc ion binding p.V228V(1) endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 30 all_lung(180;1.6e-09) all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208) CTTTCCGTAACACCAGGTCCC 0.567000 33 122 1.61788e-16 2.46628e-16 0.012213 1 0 LTF 4057 broad.mit.edu 37 3 46490396 46490396 + Nonsense_Mutation SNP G G T TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr3:46490396G>T ENST00000231751.4 - 9 1465 c.1170C>A c.(1168-1170)tgC>tgA p.C390* LTF_ENST00000417439.1_Nonsense_Mutation_p.C390*|LTF_ENST00000426532.2_Nonsense_Mutation_p.C346* NM_002343.3 NP_002334.2 P02788 TRFL_HUMAN lactotransferrin 390 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 p.C390*(1) 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) AGGCCGAGGAGCAGGTCACGC 0.692000 13 21 4.3838e-07 5.5632e-07 0.016723 1 0 UNC13B 10497 broad.mit.edu 37 9 35377536 35377536 + Missense_Mutation SNP C C A TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr9:35377536C>A ENST00000378495.3 + 15 1882 c.1660C>A c.(1660-1662)Cgc>Agc p.R554S UNC13B_ENST00000396787.1_Missense_Mutation_p.R566S|UNC13B_ENST00000378496.4_Missense_Mutation_p.R554S NM_006377.3 NP_006368.3 O14795 UN13B_HUMAN unc-13 homolog B (C. elegans) 554 excretion|induction of apoptosis|intracellular signal transduction cell junction|Golgi apparatus|synapse metal ion binding|receptor activity p.R554S(1) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_epithelial(49;0.212) LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194) CATGAAGGACCGCATGAAGAT 0.502000 4 58 0.00909568 0.00975931 0.009096 1 0 HCLS1 3059 broad.mit.edu 37 3 121351229 121351229 + Missense_Mutation SNP T T G TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr3:121351229T>G ENST00000314583.3 - 12 1281 c.1190A>C c.(1189-1191)tAt>tCt p.Y397S HCLS1_ENST00000473883.1_5'UTR|HCLS1_ENST00000428394.2_Missense_Mutation_p.Y360S NM_005335.4 NP_005326.2 P14317 HCLS1_HUMAN hematopoietic cell-specific Lyn substrate 1 397 erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus mitochondrion|nucleus|plasma membrane DNA binding|sequence-specific DNA binding transcription factor activity p.Y397S(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 GBM - Glioblastoma multiforme(114;0.0912) CACCTCCTCATAGTCCCCCTC 0.562000 61 199 0 0 0.014410 0 0 CRB1 23418 broad.mit.edu 37 1 197404356 197404356 + Missense_Mutation SNP G G T TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr1:197404356G>T ENST00000367397.1 + 5 2364 c.1506G>T c.(1504-1506)caG>caT p.Q502H CRB1_ENST00000544212.1_Missense_Mutation_p.Q602H|CRB1_ENST00000535699.1_Missense_Mutation_p.Q1097H|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000367400.3_Missense_Mutation_p.Q1121H|CRB1_ENST00000367399.2_Missense_Mutation_p.Q1009H P82279 CRUM1_HUMAN crumbs homolog 1 (Drosophila) 1121 Laminin G-like 1. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding p.Q1121_E1122>H*(1) 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 ATAAACCTCAGGAAGAGCAAT 0.398000 23 60 3.62473e-10 4.95182e-10 0.012319 1 0 CCPG1 9236 broad.mit.edu 37 15 55653056 55653056 + Silent SNP T T A TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr15:55653056T>A ENST00000310958.6 - 8 1213 c.915A>T c.(913-915)acA>acT p.T305T CCPG1_ENST00000442196.3_Silent_p.T305T|DYX1C1-CCPG1_ENST00000565113.1_RNA|CCPG1_ENST00000569205.1_Silent_p.T305T|CCPG1_ENST00000425574.3_Silent_p.T305T NM_001204450.1|NM_001204451.1|NM_004748.4|NM_020739.3 NP_001191379.1|NP_001191380.1|NP_004739.3|NP_065790.2 Q9ULG6 CCPG1_HUMAN cell cycle progression 1 305 Interaction with MCF2L and SRC (By similarity). cell cycle integral to membrane p.T305T(1) autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3) 30 all cancers(107;0.0354) ACTGATTTTCTGTAGCAAGGT 0.343000 23 51 0 0 0.012319 0 0 YLPM1 56252 broad.mit.edu 37 14 75279475 75279475 + Missense_Mutation SNP G G A TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr14:75279475G>A ENST00000325680.7 + 11 5616 c.5492G>A c.(5491-5493)aGa>aAa p.R1831K YLPM1_ENST00000552421.1_Missense_Mutation_p.R1125K|YLPM1_ENST00000238571.3_Missense_Mutation_p.R1636K NM_019589.2 NP_062535.2 P49750 YLPM1_HUMAN YLP motif containing 1 1636 regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck p.R1636K(1)|p.R1831K(1) breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 62 KIRC - Kidney renal clear cell carcinoma(43;0.238) BRCA - Breast invasive adenocarcinoma(234;0.00162) CGGGAGAGCAGACCTGAGAGA 0.458000 7 21 0 0 0.006214 0 0 PRSS1 5644 broad.mit.edu 37 7 142458502 142458502 + Missense_Mutation SNP A A T TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr7:142458502A>T ENST00000486171.1 + 2 154 c.137A>T c.(136-138)cAc>cTc p.H46L PRSS1_ENST00000311737.7_Missense_Mutation_p.H46L P07477 TRY1_HUMAN protease, serine, 1 (trypsin 1) 46 Peptidase S1. digestion|proteolysis extracellular space metal ion binding|protein binding|serine-type endopeptidase activity p.H46L(1) central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2) 38 Melanoma(164;0.047) all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165) all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189) TCTGGCTACCACTTCTGTGGT 0.562000 59 94 0 0 0.014410 0 0 NPC1 4864 broad.mit.edu 37 18 21119878 21119878 + Missense_Mutation SNP C C A TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr18:21119878C>A ENST00000269228.5 - 18 3246 c.2692G>T c.(2692-2694)Gac>Tac p.D898Y NPC1_ENST00000412552.2_Missense_Mutation_p.D580Y|NPC1_ENST00000540608.1_5'UTR NM_000271.4 NP_000262.2 O15118 NPC1_HUMAN Niemann-Pick disease, type C1 898 autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm hedgehog receptor activity|protein binding|sterol transporter activity p.D898Y(1) breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1) 38 all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127) GAAGTGTAGTCGTGCCCTTCC 0.522000 16 59 3.52763e-06 4.36588e-06 0.004990 1 0 MAML3 55534 broad.mit.edu 37 4 140640665 140640665 + Missense_Mutation SNP G G A TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr4:140640665G>A ENST00000509479.2 - 5 4085 c.3229C>T c.(3229-3231)Cca>Tca p.P1077S MGST2_ENST00000515137.1_Intron NM_018717.4 NP_061187.2 Q96JK9 MAML3_HUMAN mastermind-like 3 (Drosophila) 1073 Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity p.P1077S(2) breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2) 25 all_hematologic(180;0.162) TGGCTGCTTGGAGCAAAGCTG 0.622000 8 30 0 0 0.008291 0 0 DNAH3 55567 broad.mit.edu 37 16 21156636 21156636 + Missense_Mutation SNP C C T TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr16:21156636C>T ENST00000261383.3 - 3 313 c.314G>A c.(313-315)gGa>gAa p.G105E DNAH3_ENST00000575491.1_5'UTR|DNAH3_ENST00000415178.1_Missense_Mutation_p.G105E NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 105 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity p.G105E(2) 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) ATCACTGGGTCCACGGTGGTG 0.542000 14 50 0 0 0.020292 0 0 NARS 4677 broad.mit.edu 37 18 55269675 55269675 + Missense_Mutation SNP G G A TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr18:55269675G>A ENST00000256854.5 - 13 1882 c.1427C>T c.(1426-1428)tCa>tTa p.S476L NARS_ENST00000423481.2_Missense_Mutation_p.S227L NM_004539.3 NP_004530.1 O43776 SYNC_HUMAN asparaginyl-tRNA synthetase 476 asparaginyl-tRNA aminoacylation cytosol|soluble fraction asparagine-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding p.S476L(1) breast(1)|endometrium(5)|large_intestine(5)|lung(8)|skin(1) 20 Colorectal(73;0.227) L-Asparagine(DB00174) GATACGCATTGAGCCTCCCAC 0.413000 7 37 0 0 0.003080 0 0 CMTM7 112616 broad.mit.edu 37 3 32483336 32483336 + Missense_Mutation SNP C C A TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr3:32483336C>A ENST00000334983.5 + 2 400 c.164C>A c.(163-165)aCc>aAc p.T55N CMTM7_ENST00000349718.4_Missense_Mutation_p.T55N NM_138410.2 NP_612419.1 Q96FZ5 CKLF7_HUMAN CKLF-like MARVEL transmembrane domain containing 7 55 MARVEL. chemotaxis extracellular space|integral to membrane cytokine activity p.T55N(1) endometrium(1)|large_intestine(1)|lung(2) 4 TGGCAGGTCACCCTGCTGATT 0.522000 4 105 0.00909568 0.00975931 0.009096 1 0 FHL1 2273 broad.mit.edu 37 X 135290072 135290072 + Silent SNP G G T TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chrX:135290072G>T ENST00000543669.1 + 4 1164 c.453G>T c.(451-453)gtG>gtT p.V151V FHL1_ENST00000394155.2_Silent_p.V151V|FHL1_ENST00000370676.3_Silent_p.V167V|FHL1_ENST00000370690.3_Silent_p.V151V|FHL1_ENST00000345434.3_Silent_p.V151V|FHL1_ENST00000539015.1_Silent_p.V180V|FHL1_ENST00000535737.1_Silent_p.V151V|FHL1_ENST00000370683.1_Silent_p.V167V|FHL1_ENST00000394153.2_Silent_p.V151V NM_001159704.1 NP_001153176.1 Q13642 FHL1_HUMAN four and a half LIM domains 1 151 LIM zinc-binding 2. cell differentiation|cell growth|muscle organ development|organ morphogenesis cytosol|nucleus|plasma membrane protein binding|zinc ion binding p.V151V(2)|p.V180V(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1) 19 Acute lymphoblastic leukemia(192;0.000127) TCTACTGCGTGACTTGCCATG 0.493000 20 36 9.95505e-16 1.49925e-15 0.014323 1 0 CHD8 57680 broad.mit.edu 37 14 21876961 21876961 + Nonsense_Mutation SNP C C T TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr14:21876961C>T ENST00000399982.2 - 11 2452 c.2388G>A c.(2386-2388)tgG>tgA p.W796* CHD8_ENST00000557364.1_Nonsense_Mutation_p.W796*|CHD8_ENST00000555962.1_Intron|CHD8_ENST00000430710.3_Nonsense_Mutation_p.W517* NM_001170629.1 NP_001164100.1 Q9HCK8 CHD8_HUMAN chromodomain helicase DNA binding protein 8 796 ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent MLL1 complex ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding p.W796*(1) NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 85 all_cancers(95;0.00121) Epithelial(56;2.55e-06)|all cancers(55;1.73e-05) GBM - Glioblastoma multiforme(265;0.00424) CCAATTTCTTCCAGGCACTTG 0.378000 3 13 0 0 0.004672 0 0 RYR3 6263 broad.mit.edu 37 15 33920772 33920772 + Missense_Mutation SNP G G T TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr15:33920772G>T ENST00000389232.4 + 21 2745 c.2675G>T c.(2674-2676)gGc>gTc p.G892V RYR3_ENST00000415757.3_Missense_Mutation_p.G892V NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 892 4 X approximate repeats. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity p.G892V(1) NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) TGGACTTTCGGCAAGGTATGT 0.473000 14 50 0.00185496 0.00209837 0.016723 1 0 SLC39A12 221074 broad.mit.edu 37 10 18280171 18280171 + Missense_Mutation SNP G G T TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr10:18280171G>T ENST00000377369.2 + 8 1634 c.1361G>T c.(1360-1362)gGc>gTc p.G454V SLC39A12_ENST00000539911.1_Missense_Mutation_p.G320V|SLC39A12_ENST00000377374.4_Missense_Mutation_p.G454V|SLC39A12_ENST00000377371.3_Missense_Mutation_p.G454V NM_001145195.1 NP_001138667.1 Q504Y0 S39AC_HUMAN solute carrier family 39 (zinc transporter), member 12 454 zinc ion transport integral to membrane metal ion transmembrane transporter activity p.G454V(1) NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 TTAATTGGAGGCATCCATGGA 0.353000 20 78 5.03518e-11 7.03238e-11 0.007413 1 0 KRTAP5-8 57830 broad.mit.edu 37 11 71249653 71249653 + Missense_Mutation SNP G G T TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr11:71249653G>T ENST00000398534.3 + 1 583 c.552G>T c.(550-552)caG>caT p.Q184H NM_021046.2 NP_066384.2 O75690 KRA58_HUMAN keratin associated protein 5-8 184 extracellular region|keratin filament structural constituent of epidermis p.Q184H(1) cervix(1)|endometrium(1)|lung(2)|skin(1)|stomach(1) 6 TTTGCTGCCAGTGCAAGATCT 0.562000 37 142 1.42033e-22 2.26168e-22 0.019004 1 0 HLX 3142 broad.mit.edu 37 1 221055563 221055563 + Missense_Mutation SNP C C T TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr1:221055563C>T ENST00000366903.6 + 3 2331 c.830C>T c.(829-831)tCa>tTa p.S277L HLX_ENST00000549319.1_Missense_Mutation_p.S63L NM_021958.3 NP_068777.1 Q14774 HLX_HUMAN H2.0-like homeobox 277 cell differentiation nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.S277L(1) breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 GBM - Glioblastoma multiforme(131;0.00914) AGGAAGCGTTCATGGTCGCGC 0.572000 17 37 0 0 0.006122 0 0 CYP2B7P 1556 broad.mit.edu 37 19 41442419 41442419 + RNA SNP C C T TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr19:41442419C>T ENST00000599198.1 + 0 511 NR_001278.1 p.L153L(1) NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1) 12 GGCTCAGTGTCTGATAGAGGA 0.542000 5 17 0 0 0.014758 0 0 FCGBP 8857 broad.mit.edu 37 19 40420130 40420130 + Missense_Mutation SNP G G A TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr19:40420130G>A ENST00000221347.6 - 6 2871 c.2864C>T c.(2863-2865)gCa>gTa p.A955V NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 955 VWFD 2. extracellular region protein binding p.A955V(1) NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) CCCATCTGCTGCTTGGAAGGG 0.572000 4 51 0 0 0.001168 0 0 MAGEA12 4111 broad.mit.edu 37 X 151900216 151900216 + Silent SNP G G T TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chrX:151900216G>T ENST00000393900.3 - 3 938 c.585C>A c.(583-585)atC>atA p.I195I CSAG4_ENST00000361201.4_RNA|MAGEA12_ENST00000357916.4_Silent_p.I195I|MAGEA12_ENST00000393869.3_Silent_p.I195I NM_001166386.1 NP_001159858.1 P43365 MAGAC_HUMAN melanoma antigen family A, 12 195 MAGE. p.I195I(1) breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 Acute lymphoblastic leukemia(192;6.56e-05) TCTTGGGCACGATCTGATTGT 0.577000 57 100 1.4374e-25 2.33344e-25 0.014410 1 0 STX3 6809 broad.mit.edu 37 11 59559626 59559626 + Missense_Mutation SNP A A G TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr11:59559626A>G ENST00000535361.1 + 6 951 c.404A>G c.(403-405)aAt>aGt p.N135S STX3_ENST00000529177.1_Missense_Mutation_p.N135S|STX3_ENST00000437946.2_Missense_Mutation_p.N38S|STX3_ENST00000337979.4_Missense_Mutation_p.N135S|STX3_ENST00000300150.7_Missense_Mutation_p.N104S Q13277 STX3_HUMAN syntaxin 3 135 cellular response to oxidative stress|intracellular protein transport|neuron projection development|neurotransmitter transport apical plasma membrane|azurophil granule|cell-cell junction|growth cone|integral to membrane|plasma membrane enriched fraction|SNARE complex|specific granule arachidonic acid binding|SNAP receptor activity p.N135S(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|skin(1) 13 ACCAAATACAATGAAGCTCAA 0.493000 8 27 0 0 0.006214 0 0 TMPRSS11E 28983 broad.mit.edu 37 4 69343154 69343154 + Missense_Mutation SNP G G T TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr4:69343154G>T ENST00000305363.4 + 8 839 c.775G>T c.(775-777)Ggt>Tgt p.G259C NM_014058.3 NP_054777.2 Q9UL52 TM11E_HUMAN transmembrane protease, serine 11E 259 Peptidase S1. proteolysis extracellular region|integral to plasma membrane serine-type endopeptidase activity p.G259C(2) endometrium(1)|lung(19)|pancreas(1)|skin(3) 24 AATGAAACGGGGTCTCCGGAG 0.388000 41 243 2.42038e-35 4.1163e-35 0.007835 1 0 MRGPRX4 117196 broad.mit.edu 37 11 18195148 18195148 + Silent SNP C C G TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr11:18195148C>G ENST00000314254.3 + 1 765 c.345C>G c.(343-345)gcC>gcG p.A115A RP11-113D6.6_ENST00000527671.1_Intron NM_054032.3 NP_473373.2 Q96LA9 MRGX4_HUMAN MAS-related GPR, member X4 115 integral to membrane|plasma membrane G-protein coupled receptor activity p.A115A(1) central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 TGCTGAGCGCCATCAGCACCG 0.577000 19 121 0 0 0.007413 0 0 NFASC 23114 broad.mit.edu 37 1 204943942 204943942 + Missense_Mutation SNP G G A TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr1:204943942G>A ENST00000367172.4 + 14 1877 c.1549G>A c.(1549-1551)Gag>Aag p.E517K NFASC_ENST00000367171.4_Missense_Mutation_p.E517K|NFASC_ENST00000401399.1_Missense_Mutation_p.E517K|NFASC_ENST00000338515.6_Missense_Mutation_p.E517K|NFASC_ENST00000367169.4_Missense_Mutation_p.E517K|NFASC_ENST00000403080.1_Missense_Mutation_p.E517K|NFASC_ENST00000367170.4_Missense_Mutation_p.E517K|NFASC_ENST00000360049.4_Missense_Mutation_p.E528K|NFASC_ENST00000404907.1_Missense_Mutation_p.E528K|NFASC_ENST00000539706.1_Missense_Mutation_p.E528K|NFASC_ENST00000339876.6_Missense_Mutation_p.E517K|NFASC_ENST00000338586.6_Missense_Mutation_p.E517K|NFASC_ENST00000513543.1_Missense_Mutation_p.E528K|NFASC_ENST00000404076.1_Missense_Mutation_p.E511K O94856 NFASC_HUMAN neurofascin 517 Ig-like C2-type 5. axon guidance|cell adhesion|myelination|peripheral nervous system development integral to membrane|node of Ranvier|plasma membrane protein binding p.E517K(2)|p.E528K(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 81 all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) AGTCCGCCTGGAGGTCAAAGG 0.512000 18 54 0 0 0.006122 0 0 LRRTM1 347730 broad.mit.edu 37 2 80529683 80529683 + Missense_Mutation SNP T T C TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr2:80529683T>C ENST00000295057.3 - 2 1918 c.1262A>G c.(1261-1263)aAc>aGc p.N421S LRRTM1_ENST00000409148.1_Missense_Mutation_p.N421S|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000466387.1_Intron NM_178839.4 NP_849161.2 Q86UE6 LRRT1_HUMAN leucine rich repeat transmembrane neuronal 1 421 axon|endoplasmic reticulum membrane|growth cone|integral to membrane p.N421S(2) NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 63 CTGCACGGCGTTCTCGGCGTG 0.662000 HNSCC(69;0.2) 12 28 0 0 0.010729 0 0 MDN1 23195 broad.mit.edu 37 6 90472078 90472078 + Silent SNP G G A TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr6:90472078G>A ENST00000369393.3 - 16 2431 c.2316C>T c.(2314-2316)caC>caT p.H772H MDN1_ENST00000428876.1_Silent_p.H772H Q9NU22 MDN1_HUMAN MDN1, midasin homolog (yeast) 772 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding p.H772H(1) 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) CAGCAGACTTGTGTACATGCT 0.468000 22 122 0 0 0.016522 0 0 DUSP16 80824 broad.mit.edu 37 12 12630062 12630062 + Missense_Mutation SNP G G A TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr12:12630062G>A ENST00000228862.2 - 7 2334 c.1703C>T c.(1702-1704)tCt>tTt p.S568F DUSP16_ENST00000298573.4_3'UTR NM_030640.2 NP_085143.1 Q9BY84 DUS16_HUMAN dual specificity phosphatase 16 568 inactivation of MAPK activity|MAPK export from nucleus|MAPK phosphatase export from nucleus, leptomycin B sensitive cytoplasmic membrane-bounded vesicle|nucleus MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity p.S568F(1) endometrium(7)|kidney(2)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(3) 26 Prostate(47;0.0687) BRCA - Breast invasive adenocarcinoma(232;0.0203) GGCTGAGGCAGAGTAGAAGTG 0.592000 36 162 0 0 0.019004 0 0 CHPF2 54480 broad.mit.edu 37 7 150934520 150934520 + Missense_Mutation SNP G G A rs139006025 byFrequency TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr7:150934520G>A ENST00000035307.2 + 4 2585 c.1072G>A c.(1072-1074)Gtt>Att p.V358I CHPF2_ENST00000495645.1_Missense_Mutation_p.V350I NM_019015.1 NP_061888.1 Q9P2E5 CHPF2_HUMAN chondroitin polymerizing factor 2 358 Golgi cisterna membrane|integral to membrane N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity p.V358I(1) breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3) 17 GAGCTGGCCCGTTGGGCTCCC 0.622000 6 86 0 0 0.001168 0 0 JAK1 3716 broad.mit.edu 37 1 65300251 65300251 + Missense_Mutation SNP T T A TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr1:65300251T>A ENST00000342505.4 - 25 3707 c.3459A>T c.(3457-3459)ttA>ttT p.L1153F NM_002227.2 NP_002218.2 P23458 JAK1_HUMAN Janus kinase 1 1153 Protein kinase 2. interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway cytoskeleton|cytosol|endomembrane system|membrane|nucleus ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity p.L1153F(1) breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 120 BRCA - Breast invasive adenocarcinoma(111;0.0485) CTTCTTATTTTAAAAGTGCTT 0.328000 Mis ALL 4 48 0 0 0.009096 0 0 WAPAL 23063 broad.mit.edu 37 10 88227091 88227091 + Missense_Mutation SNP A A G TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr10:88227091A>G ENST00000298767.5 - 9 2787 c.2315T>C c.(2314-2316)aTc>aCc p.I772T WAPAL_ENST00000263070.7_Missense_Mutation_p.I39T|WAPAL_ENST00000372075.1_Missense_Mutation_p.I39T NM_015045.2 NP_055860.1 Q7Z5K2 WAPL_HUMAN wings apart-like homolog (Drosophila) 772 WAPL. cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin chromatin|cohesin complex|cytoplasm protein binding p.I772T(1) breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1) 31 GAGCCTTCGGATTTTTTCTTT 0.368000 18 82 0 0 0.010504 0 0 OR5J2 282775 broad.mit.edu 37 11 55944199 55944199 + Missense_Mutation SNP G G T TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr11:55944199G>T ENST00000312298.1 + 1 106 c.106G>T c.(106-108)Gcc>Tcc p.A36S NM_001005492.1 NP_001005492.1 Q8NH18 OR5J2_HUMAN olfactory receptor, family 5, subfamily J, member 2 36 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A36S(1) breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 44 Esophageal squamous(21;0.00693) GGTGATTTACGCCATTACCTT 0.393000 26 131 3.01185e-09 4.02654e-09 0.021523 1 0 CCDC102B 79839 broad.mit.edu 37 18 66504350 66504350 + Missense_Mutation SNP G G T TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr18:66504350G>T ENST00000360242.5 + 2 467 c.350G>T c.(349-351)aGg>aTg p.R117M CCDC102B_ENST00000577772.1_3'UTR|CCDC102B_ENST00000319445.6_Missense_Mutation_p.R117M|CCDC102B_ENST00000358653.5_Missense_Mutation_p.R117M|CCDC102B_ENST00000584156.1_Missense_Mutation_p.R117M NM_024781.2 NP_079057.2 Q68D86 C102B_HUMAN coiled-coil domain containing 102B 117 p.R117M(1) breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1) 36 Esophageal squamous(42;0.0559)|Colorectal(73;0.0604) AACAGTGCCAGGGAGGAAGGA 0.463000 9 57 0.000274275 0.000318925 0.004482 1 0 SERPINB13 5275 broad.mit.edu 37 18 61264451 61264451 + Nonsense_Mutation SNP G G T TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr18:61264451G>T ENST00000344731.5 + 8 1132 c.1030G>T c.(1030-1032)Gag>Tag p.E344* SERPINB13_ENST00000269489.5_Nonsense_Mutation_p.E292* NM_012397.3 NP_036529.1 Q9UIV8 SPB13_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 13 344 regulation of proteolysis|response to UV cytoplasm|extracellular region serine-type endopeptidase inhibitor activity p.E344*(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1) 25 GGAAGGCACCGAGGCTGCAGC 0.542000 9 47 1.12685e-05 1.37421e-05 0.004482 1 0 PCDH15 65217 broad.mit.edu 37 10 55943219 55943219 + Silent SNP C C T TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr10:55943219C>T ENST00000373965.2 - 14 1990 c.1596G>A c.(1594-1596)ggG>ggA p.G532G PCDH15_ENST00000409834.1_Silent_p.G136G|PCDH15_ENST00000373955.1_Silent_p.G525G|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000373957.3_Silent_p.G503G|PCDH15_ENST00000395446.1_Silent_p.G525G|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395432.2_Silent_p.G488G|PCDH15_ENST00000320301.6_Silent_p.G525G|PCDH15_ENST00000395445.1_Silent_p.G532G|PCDH15_ENST00000395433.1_Silent_p.G503G|PCDH15_ENST00000395430.1_Silent_p.G525G|PCDH15_ENST00000361849.3_Silent_p.G525G|PCDH15_ENST00000414778.1_Silent_p.G530G|PCDH15_ENST00000437009.1_Silent_p.G525G|PCDH15_ENST00000395438.1_Silent_p.G525G NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 525 Cadherin 5. equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding p.G525G(2)|p.G530G(2) NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) TGACACTGTCCCCAGGTCTCA 0.363000 HNSCC(58;0.16) 18 72 0 0 0.008871 0 0 NPAP1 23742 broad.mit.edu 37 15 24921231 24921231 + Missense_Mutation SNP C C A TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr15:24921231C>A ENST00000329468.2 + 1 691 c.217C>A c.(217-219)Cct>Act p.P73T NM_018958.2 NP_061831.2 nuclear pore associated protein 1 p.P73N(1) GAGGCCGTGTCCTCTCCCTCG 0.711000 12 41 6.40141e-05 7.54883e-05 0.010729 1 0 FAM84B 157638 broad.mit.edu 37 8 127569531 127569531 + Missense_Mutation SNP G G T TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr8:127569531G>T ENST00000304916.3 - 2 559 c.104C>A c.(103-105)tCc>tAc p.S35Y RP11-103H7.5_ENST00000524320.1_RNA NM_174911.4 NP_777571.1 Q96KN1 FA84B_HUMAN family with sequence similarity 84, member B 35 cytoplasm|plasma membrane protein binding p.S35Y(1) lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 5 Ovarian(5;9.43e-05)|Esophageal squamous(12;0.0012)|Hepatocellular(40;0.128)|Myeloproliferative disorder(2;0.135) STAD - Stomach adenocarcinoma(47;0.000556)|Colorectal(2;0.0102)|Lung(2;0.0136)|READ - Rectum adenocarcinoma(2;0.0723) GAAAATGTAGGAGACCCCAAT 0.672000 11 25 2.80697e-09 3.77281e-09 0.010729 1 0 KIAA1468 57614 broad.mit.edu 37 18 59895607 59895607 + Missense_Mutation SNP G G T TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr18:59895607G>T ENST00000256858.6 + 8 1472 c.1224G>T c.(1222-1224)ttG>ttT p.L408F KIAA1468_ENST00000398130.2_Missense_Mutation_p.L408F Q9P260 K1468_HUMAN KIAA1468 408 binding p.L408F(1) autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 47 Colorectal(73;0.186) AGCCTCCTTTGGATCAGTTGC 0.418000 4 127 0.00116845 0.00133384 0.001168 1 0 OXCT1 5019 broad.mit.edu 37 5 41853613 41853613 + Missense_Mutation SNP T T A TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr5:41853613T>A ENST00000196371.5 - 4 482 c.322A>T c.(322-324)Ata>Tta p.I108L NM_000436.3 NP_000427.1 P55809 SCOT1_HUMAN 3-oxoacid CoA transferase 1 108 cellular lipid metabolic process|ketone body catabolic process mitochondrial matrix 3-oxoacid CoA-transferase activity|protein homodimerization activity p.I108L(1) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(2) 28 Succinic acid(DB00139) ATGCGTTTTATCTGCTTGGAC 0.423000 3 38 0 0 0.009096 0 0 OR8H2 390151 broad.mit.edu 37 11 55873303 55873303 + Missense_Mutation SNP C C A rs143759988 by1000genomes TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr11:55873303C>A ENST00000313503.1 + 1 785 c.785C>A c.(784-786)cCa>cAa p.P262Q NM_001005200.1 NP_001005200.1 Q8N162 OR8H2_HUMAN olfactory receptor, family 8, subfamily H, member 2 262 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.P262Q(1) breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 61 Esophageal squamous(21;0.00693) TATTTAAAACCAAGAAAGTCT 0.363000 HNSCC(53;0.14) 6 97 0.00116845 0.00133384 0.001168 1 0 PCDHB11 56125 broad.mit.edu 37 5 140579865 140579865 + Missense_Mutation SNP G G T TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr5:140579865G>T ENST00000354757.3 + 1 518 c.518G>T c.(517-519)aGc>aTc p.S173I PCDHB11_ENST00000536699.1_Intron NM_018931.2 NP_061754.1 Q9Y5F2 PCDBB_HUMAN 173 Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding p.S173I(1) NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TACACAATAAGCCCCAACTCT 0.428000 25 93 1.66031e-10 2.29324e-10 0.021523 1 0 OTUD4 54726 broad.mit.edu 37 4 146077104 146077104 + Missense_Mutation SNP G G C TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr4:146077104G>C ENST00000454497.2 - 8 616 c.479C>G c.(478-480)cCt>cGt p.P160R OTUD4_ENST00000455611.2_5'UTR|OTUD4_ENST00000447906.2_Missense_Mutation_p.P225R NM_001102653.1 NP_001096123.1 Q01804 OTUD4_HUMAN OTU domain containing 4 225 protein binding p.P160R(1) breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 all_hematologic(180;0.151) GCCTGACAAAGGTTTAAATCC 0.313000 13 54 0 0 0.016723 0 0 COLGALT2 23127 broad.mit.edu 37 1 183923911 183923911 + Missense_Mutation SNP C C G TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr1:183923911C>G ENST00000361927.4 - 7 1385 c.1014G>C c.(1012-1014)aaG>aaC p.K338N COLGALT2_ENST00000546159.1_Missense_Mutation_p.K338N|COLGALT2_ENST00000367520.3_Missense_Mutation_p.K75N NM_015101.2 NP_055916.1 collagen beta(1-O)galactosyltransferase 2 p.K338N(1) CAAATCCCATCTTGTCTGGAT 0.463000 10 87 0 0 0.006214 0 0 NF1 4763 broad.mit.edu 37 17 29554590 29554590 + Missense_Mutation SNP T T A TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr17:29554590T>A ENST00000358273.4 + 20 2758 c.2375T>A c.(2374-2376)cTt>cAt p.L792H NF1_ENST00000356175.3_Missense_Mutation_p.L792H NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 792 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|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|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|Ras protein signal transduction|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 protein binding|Ras GTPase activator activity p.0?(8)|p.?(4)|p.L792H(2) 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) AAGCTAATCCTTAACTATCCA 0.358000 """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) 29 25 0 0 0.007291 0 0 BLNK 29760 broad.mit.edu 37 10 97960807 97960807 + Silent SNP T T A TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr10:97960807T>A ENST00000224337.5 - 14 1083 c.942A>T c.(940-942)acA>acT p.T314T BLNK_ENST00000371176.2_Silent_p.T291T|BLNK_ENST00000413476.2_Silent_p.T314T|BLNK_ENST00000427367.2_Silent_p.T314T NM_013314.3 NP_037446.1 Q8WV28 BLNK_HUMAN B-cell linker 314 B cell differentiation|humoral immune response|inflammatory response|intracellular signal transduction cytoplasm|plasma membrane SH3/SH2 adaptor activity|transmembrane receptor protein tyrosine kinase adaptor activity p.T314T(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1) 14 Colorectal(252;0.083) Epithelial(162;7.89e-08)|all cancers(201;2.27e-06) TTCCCCCTTCTGTAAATCCTG 0.413000 35 90 0 0 0.019004 0 0 F11 2160 broad.mit.edu 37 4 187192834 187192834 + Missense_Mutation SNP G G T TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr4:187192834G>T ENST00000264692.4 + 3 460 c.127G>T c.(127-129)Gcc>Tcc p.A43S F11_ENST00000492972.2_Missense_Mutation_p.A43S|F11_ENST00000403665.2_Missense_Mutation_p.A43S P03951 FA11_HUMAN coagulation factor XI 43 Apple 1. blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis extracellular space|plasma membrane heparin binding|serine-type endopeptidase activity p.A43S(1) NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 32 all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202) OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176) Coagulation Factor IX(DB00100) CACACCAAGCGCCAAGTACTG 0.488000 12 92 4.84862e-15 7.17251e-15 0.010729 1 0 MAPK7 5598 broad.mit.edu 37 17 19286510 19286510 + Missense_Mutation SNP T T G TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr17:19286510T>G ENST00000308406.5 + 7 2803 c.2417T>G c.(2416-2418)cTg>cGg p.L806R MAPK7_ENST00000395602.4_Missense_Mutation_p.L806R|MAPK7_ENST00000571657.1_3'UTR|MAPK7_ENST00000299612.7_Missense_Mutation_p.L667R|MAPK7_ENST00000395604.3_Missense_Mutation_p.L806R NM_139033.2 NP_620602.2 Q13164 MK07_HUMAN mitogen-activated protein kinase 7 806 May not be required for kinase activity; required to stimulate MEF2C activity (By similarity). cell cycle|cell differentiation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|MAP kinase activity|protein binding p.L806R(1) autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 30 all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206) TCCCCAATGCTGCTGGCTGAC 0.597000 3 63 0 0 0.004672 0 0 SNX4 8723 broad.mit.edu 37 3 125208251 125208251 + Splice_Site SNP C C G TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr3:125208251C>G ENST00000251775.4 - 6 678 c.e6+1 SNX4_ENST00000473417.1_Intron|SNX4_ENST00000536067.1_Splice_Site NM_003794.2 NP_003785.1 O95219 SNX4_HUMAN sorting nexin 4 cell communication|endocytic recycling|endocytosis|protein transport cytoplasmic dynein complex|early endosome membrane phosphatidylinositol binding|protein binding p.?(1) breast(2)|central_nervous_system(1)|lung(6)|ovary(1)|skin(1) 11 CAAAACCTTACTTGTCTGGGT 0.303000 14 42 0 0 0.020292 0 0 VOPP1 81552 broad.mit.edu 37 7 55540620 55540620 + Silent SNP C C A TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr7:55540620C>A ENST00000285279.5 - 5 647 c.447G>T c.(445-447)gtG>gtT p.V149V VOPP1_ENST00000454227.1_Silent_p.V86V|VOPP1_ENST00000427700.1_Silent_p.V147V|VOPP1_ENST00000428097.1_Silent_p.V82V|VOPP1_ENST00000418904.1_Silent_p.V132V|VOPP1_ENST00000453256.1_Silent_p.V82V|VOPP1_ENST00000545390.1_Silent_p.V146V|VOPP1_ENST00000428648.1_Silent_p.V82V|VOPP1_ENST00000433959.1_Silent_p.V140V NM_030796.3 NP_110423.3 Q96AW1 VOPP1_HUMAN vesicular, overexpressed in cancer, prosurvival protein 1 149 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic vesicle membrane|endosome|integral to organelle membrane signal transducer activity p.V149V(1)|p.G112C(1) endometrium(1)|lung(4) 5 GCGGGCAGGCCACACTCCCCT 0.637000 6 12 0.00198382 0.00222401 0.001984 1 0 AAR2 25980 broad.mit.edu 37 20 34843635 34843635 + Missense_Mutation SNP G G T TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr20:34843635G>T ENST00000373932.3 + 4 1469 c.1123G>T c.(1123-1125)Gtg>Ttg p.V375L AAR2_ENST00000397286.3_Intron|AAR2_ENST00000320849.4_Missense_Mutation_p.V375L NM_015511.3 NP_056326.2 AAR2 splicing factor homolog (S. cerevisiae) p.V375L(1) CCCGGTGGTGGTGGAGCTCCC 0.607000 15 44 2.35188e-11 3.3032e-11 0.006122 1 0 TRIM2 23321 broad.mit.edu 37 4 154217122 154217122 + Missense_Mutation SNP G G T TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr4:154217122G>T ENST00000338700.5 + 6 1509 c.1444G>T c.(1444-1446)Gca>Tca p.A482S TRIM2_ENST00000494872.1_3'UTR|TRIM2_ENST00000437508.2_Missense_Mutation_p.A455S NM_015271.3 NP_056086.2 Q9C040 TRIM2_HUMAN tripartite motif containing 2 455 cytoplasm zinc ion binding p.A482S(1)|p.A455S(1) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1) 19 all_hematologic(180;0.093) Medulloblastoma(177;0.00225) GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703) GAAAAGACCCGCAAGCATGTA 0.557000 8 38 5.18039e-06 6.37979e-06 0.003080 1 0 SEZ6L 23544 broad.mit.edu 37 22 26706748 26706748 + Missense_Mutation SNP G G C TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr22:26706748G>C ENST00000529632.2 + 7 1823 c.1627G>C c.(1627-1629)Gag>Cag p.E543Q SEZ6L_ENST00000360929.3_Missense_Mutation_p.E543Q|SEZ6L_ENST00000404234.3_Missense_Mutation_p.E543Q|SEZ6L_ENST00000402979.1_Missense_Mutation_p.E316Q|SEZ6L_ENST00000248933.6_Missense_Mutation_p.E543Q|SEZ6L_ENST00000403121.1_Missense_Mutation_p.E316Q|SEZ6L_ENST00000343706.4_Missense_Mutation_p.E543Q NM_001184774.1|NM_001184775.1|NM_001184777.1 NP_001171703.1|NP_001171704.1|NP_001171706.1 Q9BYH1 SE6L1_HUMAN seizure related 6 homolog (mouse)-like 543 CUB 2. endoplasmic reticulum membrane|integral to membrane p.E543Q(1) breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 80 CATCCGCATCGAGTTCACGTC 0.597000 3 152 0 0 0.009096 0 0 SLC39A6 25800 broad.mit.edu 37 18 33694349 33694349 + Missense_Mutation SNP C C A TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr18:33694349C>A ENST00000269187.5 - 7 1767 c.1554G>T c.(1552-1554)atG>atT p.M518I SLC39A6_ENST00000440549.2_Missense_Mutation_p.M243I|SLC39A6_ENST00000590986.1_Missense_Mutation_p.M518I NM_012319.3 NP_036451.3 Q13433 S39A6_HUMAN solute carrier family 39 (zinc transporter), member 6 518 integral to membrane|lamellipodium membrane zinc ion transmembrane transporter activity p.M518I(1) breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 41 CATGAGCTATCATGACCTCTT 0.463000 16 90 1.33834e-09 1.80856e-09 0.007413 1 0 PCDHB6 56130 broad.mit.edu 37 5 140531678 140531678 + Missense_Mutation SNP G G A rs137911178 TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr5:140531678G>A ENST00000231136.1 + 1 1840 c.1840G>A c.(1840-1842)Ggc>Agc p.G614S PCDHB6_ENST00000543635.1_Missense_Mutation_p.G478S NM_018939.2 NP_061762.1 Q9Y5E3 PCDB6_HUMAN 614 Cadherin 6. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding p.G614S(1) cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 84 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CGGTCTGTTCGGCGTGTGGGC 0.667000 5 67 0 0 0.003080 0 0 COX10-AS1 100874058 broad.mit.edu 37 17 13927814 13927814 + RNA SNP A A T rs141406384 by1000genomes TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr17:13927814A>T ENST00000602743.1 - 0 224 TTGGTGGGAGACGCTCAAGAG 0.512000 4 17 0 0 0.001168 0 0 DOT1L 84444 broad.mit.edu 37 19 2191240 2191240 + Splice_Site SNP G G T TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr19:2191240G>T ENST00000398665.3 + 5 529 c.e5+1 NM_032482.2 NP_115871.1 Q8TEK3 DOT1L_HUMAN DOT1-like histone H3K79 methyltransferase nucleus DNA binding|histone-lysine N-methyltransferase activity|protein binding p.?(2) 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) TTGGGGAGCGGTGAGTGTCGC 0.607000 14 28 1.15088e-07 1.47548e-07 0.004007 1 0 AAR2 25980 broad.mit.edu 37 20 34843634 34843634 + Silent SNP G G T TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr20:34843634G>T ENST00000373932.3 + 4 1468 c.1122G>T c.(1120-1122)gtG>gtT p.V374V AAR2_ENST00000397286.3_Intron|AAR2_ENST00000320849.4_Silent_p.V374V NM_015511.3 NP_056326.2 AAR2 splicing factor homolog (S. cerevisiae) p.V375L(1) CCCCGGTGGTGGTGGAGCTCC 0.602000 15 44 2.35188e-11 3.3032e-11 0.006122 1 0 PTPLA 9200 broad.mit.edu 37 10 17636278 17636278 + Missense_Mutation SNP C C A TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr10:17636278C>A ENST00000361271.3 - 6 747 c.710G>T c.(709-711)aGa>aTa p.R237I NM_014241.3 NP_055056.3 B0YJ81 HACD1_HUMAN protein tyrosine phosphatase-like (proline instead of catalytic arginine), member A 237 fatty acid biosynthetic process|multicellular organismal development|signal transduction endoplasmic reticulum membrane|integral to membrane lyase activity|protein tyrosine phosphatase activity p.R237I(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|skin(1) 13 GTTAGGAAGTCTTATTGAAAA 0.313000 23 77 7.41877e-09 9.76154e-09 0.012319 1 0 LRRN4 164312 broad.mit.edu 37 20 6033166 6033166 + Missense_Mutation SNP C C T TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr20:6033166C>T ENST00000378858.4 - 2 504 c.280G>A c.(280-282)Gag>Aag p.E94K NM_152611.4 NP_689824.2 Q8WUT4 LRRN4_HUMAN leucine rich repeat neuronal 4 94 integral to membrane p.E94K(1) breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2) 27 TGGCCGAGCTCGGAAGTGCTC 0.741000 9 10 0 0 0.010729 0 0 GTPBP1 9567 broad.mit.edu 37 22 39122392 39122392 + Missense_Mutation SNP A A T TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr22:39122392A>T ENST00000216044.5 + 8 1581 c.1348A>T c.(1348-1350)Atg>Ttg p.M450L GTPBP1_ENST00000460605.1_3'UTR NM_004286.4 NP_004277.2 O00178 GTPB1_HUMAN GTP binding protein 1 450 immune response|positive regulation of mRNA catabolic process|signal transduction cytoplasmic exosome (RNase complex)|cytosol GTP binding|GTPase activity p.M450L(1)|p.M28L(1) endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 18 Melanoma(58;0.04) TCGCAAGCGCATGCCTGTCAA 0.557000 14 50 0 0 0.016723 0 0 SMR3A 26952 broad.mit.edu 37 4 71232648 71232648 + Silent SNP T T A TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr4:71232648T>A ENST00000226460.4 + 3 438 c.342T>A c.(340-342)ccT>ccA p.P114P NM_012390.3 NP_036522.3 Q99954 SMR3A_HUMAN submaxillary gland androgen regulated protein 3A 114 Pro-rich. extracellular region p.P114P(1) endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4) 15 all_hematologic(202;0.196) CCTATCCACCTGGACCTCCAT 0.517000 35 74 0 0 0.021022 0 0 DNAJC5G 285126 broad.mit.edu 37 2 27500725 27500725 + Missense_Mutation SNP G G A TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr2:27500725G>A ENST00000296097.3 + 4 635 c.217G>A c.(217-219)Gaa>Aaa p.E73K DNAJC5G_ENST00000402462.1_Missense_Mutation_p.E73K|DNAJC5G_ENST00000406962.1_Intron|DNAJC5G_ENST00000404433.1_Missense_Mutation_p.E57K NM_173650.1 NP_775921.1 Q8N7S2 DNJ5G_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 5 gamma 73 J. protein folding membrane heat shock protein binding|unfolded protein binding p.E73K(2) cervix(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1) 10 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TCAAGCAGCAGAAATATTCAA 0.473000 14 87 0 0 0.020292 0 0 RTP2 344892 broad.mit.edu 37 3 187416668 187416668 + Missense_Mutation SNP C C A TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr3:187416668C>A ENST00000358241.1 - 2 724 c.296G>T c.(295-297)tGc>tTc p.C99F NM_001004312.2 NP_001004312.2 Q5QGT7 RTP2_HUMAN receptor (chemosensory) transporter protein 2 99 protein insertion into membrane cell surface|integral to membrane|plasma membrane olfactory receptor binding p.C99F(1) large_intestine(3)|lung(14)|skin(1) 18 all_cancers(143;4.06e-12)|Ovarian(172;0.0418) OV - Ovarian serous cystadenocarcinoma(80;1.76e-18) GBM - Glioblastoma multiforme(93;0.0515) CGCCGTGCCGCACTCATAGCA 0.647000 7 24 1.06961e-07 1.37837e-07 0.003080 1 0 PCDH15 65217 broad.mit.edu 37 10 55566681 55566681 + Silent SNP G G T TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr10:55566681G>T ENST00000373965.2 - 36 5107 c.4713C>A c.(4711-4713)tcC>tcA p.S1571S PCDH15_ENST00000414778.1_Silent_p.S1568S NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 422 equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding p.S1568S(1) NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) GTCGAACAGGGGAAGCAACTT 0.458000 HNSCC(58;0.16) 46 151 3.77016e-25 6.0809e-25 0.013114 1 0 COL12A1 1303 broad.mit.edu 37 6 75875304 75875304 + Missense_Mutation SNP C C T TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr6:75875304C>T ENST00000322507.8 - 14 3211 c.2902G>A c.(2902-2904)Gag>Aag p.E968K COL12A1_ENST00000483888.2_Missense_Mutation_p.E968K|COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000416123.2_Missense_Mutation_p.E968K NM_004370.5 NP_004361.3 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 968 Fibronectin type-III 6. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength p.E968K(1) breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 169 TATTTGGTCTCTGGCTGCAGA 0.408000 27 128 0 0 0.021523 0 0 TRAF3IP1 26146 broad.mit.edu 37 2 239237900 239237900 + Missense_Mutation SNP G G T TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr2:239237900G>T ENST00000373327.4 + 5 1054 c.832G>T c.(832-834)Gac>Tac p.D278Y TRAF3IP1_ENST00000391993.3_Missense_Mutation_p.D278Y|TRAF3IP1_ENST00000391994.2_Missense_Mutation_p.D278Y NM_015650.3 NP_056465.2 Q8TDR0 MIPT3_HUMAN TNF receptor-associated factor 3 interacting protein 1 278 Abolishes microtubules-binding when missing.|Arg-rich.|DISC1-interaction domain. cytoplasm|cytoskeleton protein binding p.D278Y(1) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(2) 23 all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182) Epithelial(121;9.92e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.85e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.01e-07)|BRCA - Breast invasive adenocarcinoma(100;7.72e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0184) gaaggacagggacagacggag 0.547000 11 26 3.86212e-05 4.64197e-05 0.008291 1 0 STK11 6794 broad.mit.edu 37 19 1218415 1218415 + Splice_Site SNP G G T rs112675807 TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr19:1218415G>T ENST00000326873.7 + 2 1463 c.e2-1 STK11_ENST00000585748.1_Splice_Site NM_000455.4 NP_000446.1 Q15831 STK11_HUMAN serine/threonine kinase 11 anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleus ATP binding|magnesium ion binding|protein serine/threonine kinase activity p.0?(20)|p.?(4) biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 328 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|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)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18) CTCTGTCCCAGGGAAATTCAA 0.522000 14 """D, Mis, N, F, S""" """NSCLC, pancreatic""" """jejunal harmartoma, ovarian, testicular, pancreatic""" Peutz-Jeghers syndrome TSP Lung(3;<1E-08) 45 69 9.58827e-17 1.47967e-16 0.014410 1 0 DNAH7 56171 broad.mit.edu 37 2 196681573 196681573 + Silent SNP A A G TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr2:196681573A>G ENST00000312428.6 - 51 9640 c.9540T>C c.(9538-9540)aaT>aaC p.N3180N NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 3180 AAA 5 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity p.N3180N(1) NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 GAGAAATCTCATTAGCCAAGG 0.403000 20 94 0 0 0.007413 0 0 KIAA1755 85449 broad.mit.edu 37 20 36869547 36869547 + Missense_Mutation SNP C C A TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr20:36869547C>A ENST00000279024.4 - 3 1257 c.986G>T c.(985-987)gGa>gTa p.G329V NM_001029864.1 NP_001025035.1 Q5JYT7 K1755_HUMAN KIAA1755 329 p.G329V(1) breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1) 54 Myeloproliferative disorder(115;0.00874) CAAGGAAGGTCCTTCATTGGC 0.488000 86 184 2.93416e-43 5.02424e-43 0.014410 1 0 NPAP1 23742 broad.mit.edu 37 15 24921232 24921232 + Missense_Mutation SNP C C A TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr15:24921232C>A ENST00000329468.2 + 1 692 c.218C>A c.(217-219)cCt>cAt p.P73H NM_018958.2 NP_061831.2 nuclear pore associated protein 1 p.P73N(1) AGGCCGTGTCCTCTCCCTCGG 0.711000 12 41 6.40141e-05 7.54883e-05 0.010729 1 0 ARRDC5 645432 broad.mit.edu 37 19 4891298 4891298 + Missense_Mutation SNP G G T TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr19:4891298G>T ENST00000381781.2 - 3 788 c.789C>A c.(787-789)aaC>aaA p.N263K NM_001080523.1 NP_001073992.1 A6NEK1 ARRD5_HUMAN arrestin domain containing 5 263 signal transduction p.N263K(1) endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 12 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257) CCTTGGTGGTGTTGAAGCGGG 0.622000 27 48 8.24728e-16 1.24959e-15 0.004656 1 0 POTEG 404785 broad.mit.edu 37 14 19553775 19553775 + Missense_Mutation SNP G G T TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr14:19553775G>T ENST00000409832.3 + 1 411 c.359G>T c.(358-360)tGg>tTg p.W120L NM_001005356.2 NP_001005356.1 Q6S5H5 POTEG_HUMAN POTE ankyrin domain family, member G 120 p.W120L(1) cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 47 GTGGGCCCTTGGGGAGACTAC 0.602000 8 523 0.00307968 0.00339172 0.003080 1 0 GRIN2D 2906 broad.mit.edu 37 19 48922550 48922550 + Missense_Mutation SNP G G T TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr19:48922550G>T ENST00000263269.3 + 8 1883 c.1795G>T c.(1795-1797)Gtc>Ttc p.V599F NM_000836.2 NP_000827.2 O15399 NMDE4_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2D 599 cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|protein binding p.V599F(1) autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1) 37 all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203) all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161) L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173) TGTGGTCGCCGTCACTGTTTT 0.607000 21 43 1.40151e-16 2.14955e-16 0.010504 1 0 SLC24A1 9187 broad.mit.edu 37 15 65918051 65918051 + Missense_Mutation SNP C C T TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr15:65918051C>T ENST00000261892.6 + 2 1920 c.1633C>T c.(1633-1635)Ctc>Ttc p.L545F SLC24A1_ENST00000399033.4_Missense_Mutation_p.L545F|SLC24A1_ENST00000339868.6_Missense_Mutation_p.L545F|SLC24A1_ENST00000537259.1_Missense_Mutation_p.L545F|SLC24A1_ENST00000546330.1_Missense_Mutation_p.L545F|SLC24A1_ENST00000544319.2_Missense_Mutation_p.L545F NM_001254740.1|NM_004727.2 NP_001241669.1|NP_004718.1 O60721 NCKX1_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 1 545 response to light intensity|visual perception integral to plasma membrane|membrane fraction|outer membrane calcium, potassium:sodium antiporter activity|protein binding|symporter activity p.L545F(1) breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 CACTTGTTCCCTCTTCTCCCG 0.502000 48 156 0 0 0.014410 0 0 EPHB1 2047 broad.mit.edu 37 3 134851590 134851590 + Missense_Mutation SNP C C G TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr3:134851590C>G ENST00000398015.3 + 5 1366 c.996C>G c.(994-996)atC>atG p.I332M EPHB1_ENST00000493838.1_5'UTR|EPHB1_ENST00000488154.1_3'UTR NM_004441.4 NP_004432.1 P54762 EPHB1_HUMAN EPH receptor B1 332 Fibronectin type-III 1. integral to plasma membrane ATP binding|ephrin receptor activity|protein binding p.I332M(2) NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 130 TTATCTCCATCGTCAATGAGA 0.547000 10 28 0 0 0.006214 0 0 TTC21A 199223 broad.mit.edu 37 3 39166949 39166949 + Missense_Mutation SNP G G C TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr3:39166949G>C ENST00000301819.6 + 11 1519 c.1342G>C c.(1342-1344)Gag>Cag p.E448Q TTC21A_ENST00000440121.1_Missense_Mutation_p.E399Q|TTC21A_ENST00000431162.2_Missense_Mutation_p.E448Q NM_145755.2 NP_665698.2 Q8NDW8 TT21A_HUMAN tetratricopeptide repeat domain 21A 448 binding p.E448Q(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3) 50 KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738) TCTTGGCTCTGAGTACTTTGA 0.547000 OREG0015487 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 114 0 0 0.001168 0 0 ZC3H4 23211 broad.mit.edu 37 19 47585439 47585439 + Splice_Site SNP A A T TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr19:47585439A>T ENST00000253048.5 - 10 1368 c.e10+1 ZC3H4_ENST00000594019.1_Intron NM_015168.1 NP_055983.1 Q9UPT8 ZC3H4_HUMAN zinc finger CCCH-type containing 4 nucleic acid binding|zinc ion binding p.?(1) NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1) 41 all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889) OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372) ACTAAAGGATATCGTGCATAT 0.468000 34 72 0 0 0.019004 0 0 KCNN2 3781 broad.mit.edu 37 5 113831719 113831719 + Missense_Mutation SNP T T C TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr5:113831719T>C ENST00000512097.3 + 9 2598 c.1580T>C c.(1579-1581)cTc>cCc p.L527P RP11-492A10.1_ENST00000514115.1_RNA|KCNN2_ENST00000503706.1_Missense_Mutation_p.L179P|KCNN2_ENST00000264773.3_Missense_Mutation_p.L527P Q9H2S1 KCNN2_HUMAN potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2 527 integral to membrane calmodulin binding|small conductance calcium-activated potassium channel activity p.L527P(1)|p.L179P(1) breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206) OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195) CTCCCTGGGCTCATAAGCCAG 0.502000 3 135 0 0 0.004672 0 0 TTN 7273 broad.mit.edu 37 2 179577492 179577492 + Missense_Mutation SNP C C A TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr2:179577492C>A ENST00000589042.1 - 94 27484 c.27260G>T c.(27259-27261)gGa>gTa p.G9087V TTN_ENST00000591111.1_Missense_Mutation_p.G8770V|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.G7843V|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 8770 Ig-like 74. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.G7843V(1) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AGTATATTCTCCACTTTGTGA 0.408000 13 85 1.5842e-08 2.07356e-08 0.016723 1 0 GALNT14 79623 broad.mit.edu 37 2 31147108 31147108 + Silent SNP G G T TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr2:31147108G>T ENST00000349752.5 - 13 1896 c.1257C>A c.(1255-1257)atC>atA p.I419I GALNT14_ENST00000420311.2_Silent_p.I384I|GALNT14_ENST00000356174.3_Silent_p.I386I|GALNT14_ENST00000486564.1_Intron|GALNT14_ENST00000406653.1_Silent_p.I399I|GALNT14_ENST00000324589.5_Silent_p.I424I NM_024572.3 NP_078848.2 Q96FL9 GLT14_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14) 419 Ricin B-type lectin. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding p.I419I(1) cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3) 43 Acute lymphoblastic leukemia(172;0.155) TGCCCTTCTGGATGGAGGACT 0.537000 30 138 3.17567e-06 3.94984e-06 0.008361 1 0 GARNL3 84253 broad.mit.edu 37 9 130151342 130151342 + Missense_Mutation SNP C C A TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr9:130151342C>A ENST00000373387.4 + 26 3039 c.2687C>A c.(2686-2688)tCc>tAc p.S896Y GARNL3_ENST00000496711.1_3'UTR|GARNL3_ENST00000314904.5_3'UTR|GARNL3_ENST00000435213.2_Missense_Mutation_p.S874Y NM_032293.4 NP_115669.3 Q5VVW2 GARL3_HUMAN GTPase activating Rap/RanGAP domain-like 3 896 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity|small GTPase regulator activity p.S878Y(1) NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2) 41 CACTCCTTGTCCCTGTCTCGC 0.532000 4 45 0.00024832 0.000290093 0.009096 1 0 SI 6476 broad.mit.edu 37 3 164741524 164741524 + Missense_Mutation SNP C C G TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr3:164741524C>G ENST00000264382.3 - 26 2995 c.2933G>C c.(2932-2934)aGa>aCa p.R978T NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 978 Isomaltase.|P-type 2. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity p.R978T(1) NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) GTTATCTTGTCTGGGAAAGTA 0.373000 HNSCC(35;0.089) 15 45 0 0 0.004007 0 0 SAMSN1 64092 broad.mit.edu 37 21 15884835 15884835 + Silent SNP G G T TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr21:15884835G>T ENST00000285670.2 - 5 717 c.543C>A c.(541-543)acC>acA p.T181T SAMSN1_ENST00000400564.1_Intron|SAMSN1_ENST00000400566.1_Silent_p.T113T NM_001256370.1 NP_001243299.1 Q9NSI8 SAMN1_HUMAN SAM domain, SH3 domain and nuclear localization signals 1 113 SH3. negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation cytoplasm|nucleus|ruffle phosphotyrosine binding p.T113T(1)|p.T181T(1) breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1) 24 Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164) TCTCTGTGTGGGTCCCAATCA 0.463000 39 154 3.66082e-28 6.06095e-28 0.005524 1 0 ELTD1 64123 broad.mit.edu 37 1 79403965 79403965 + Splice_Site SNP C C G TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr1:79403965C>G ENST00000370742.3 - 5 460 c.e5-1 NM_022159.3 NP_071442.2 Q9HBW9 ELTD1_HUMAN EGF, latrophilin and seven transmembrane domain containing 1 neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity p.?(1) NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 69 COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148) TGGATCTGATCTGAGAAAAAA 0.313000 8 13 0 0 0.003080 0 0 STK32C 282974 broad.mit.edu 37 10 134040457 134040457 + Silent SNP G G A TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr10:134040457G>A ENST00000368622.1 - 4 516 c.135C>T c.(133-135)gaC>gaT p.D45D STK32C_ENST00000368625.4_Silent_p.D175D Q86UX6 ST32C_HUMAN serine/threonine kinase 32C 162 ATP binding|metal ion binding|protein serine/threonine kinase activity p.D175D(1)|p.D162D(1) breast(1)|endometrium(2)|large_intestine(2)|lung(15)|ovary(2)|skin(1) 23 all_cancers(35;2.72e-11)|all_epithelial(44;2.33e-08)|Lung NSC(174;0.000855)|all_lung(145;0.00146)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.112)|Melanoma(40;0.124)|Glioma(114;0.203) Epithelial(32;3.99e-05)|all cancers(32;5.58e-05)|OV - Ovarian serous cystadenocarcinoma(35;9.96e-05)|BRCA - Breast invasive adenocarcinoma(275;0.222) TGTCCTCCTCGTCCTGGAAGG 0.622000 5 34 0 0 0.014758 0 0 ZNF382 84911 broad.mit.edu 37 19 37117732 37117732 + Silent SNP C C T TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr19:37117732C>T ENST00000435416.1 + 3 2425 c.930C>T c.(928-930)ctC>ctT p.L310L ZNF382_ENST00000292928.2_Silent_p.L311L|ZNF382_ENST00000423582.1_Silent_p.L262L|ZNF382_ENST00000439428.1_Silent_p.L310L Q96SR6 ZN382_HUMAN zinc finger protein 382 311 Required for transcriptional repression activity; probably mediates sequence- specific DNA-binding (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.L311L(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4) 34 Esophageal squamous(110;0.198) COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065) AGTCATACCTCATTGAACATC 0.423000 32 93 0 0 0.009535 0 0 KNOP1 400506 broad.mit.edu 37 16 19725912 19725912 + Missense_Mutation SNP T T C TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr16:19725912T>C ENST00000219837.7 - 2 524 c.446A>G c.(445-447)aAa>aGa p.K149R AC002550.5_ENST00000565916.1_RNA NM_001012991.2 NP_001013009.2 lysine-rich nucleolar protein 1 p.K149R(1) CTTGTGTTTTTTGAGCTTCTT 0.557000 21 53 0 0 0.012319 0 0 ZCCHC14 23174 broad.mit.edu 37 16 87451247 87451247 + Missense_Mutation SNP T T A TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr16:87451247T>A ENST00000268616.4 - 8 1008 c.791A>T c.(790-792)cAt>cTt p.H264L NM_015144.2 NP_055959.1 Q8WYQ9 ZCH14_HUMAN zinc finger, CCHC domain containing 14 264 cell communication nucleic acid binding|phosphatidylinositol binding|zinc ion binding p.H264L(1) breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 36 BRCA - Breast invasive adenocarcinoma(80;0.0285) GCTGCCCGCATGGGAGCAGTG 0.692000 30 151 0 0 0.007291 0 0 OR8H2 390151 broad.mit.edu 37 11 55873302 55873302 + Missense_Mutation SNP C C A TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr11:55873302C>A ENST00000313503.1 + 1 784 c.784C>A c.(784-786)Cca>Aca p.P262T NM_001005200.1 NP_001005200.1 Q8N162 OR8H2_HUMAN olfactory receptor, family 8, subfamily H, member 2 262 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 61 Esophageal squamous(21;0.00693) TTATTTAAAACCAAGAAAGTC 0.363000 HNSCC(53;0.14) 7 96 0.00198382 0.00222401 0.001984 1 0 MRC2 9902 broad.mit.edu 37 17 60759205 60759205 + Missense_Mutation SNP G G T TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr17:60759205G>T ENST00000303375.5 + 19 3112 c.2710G>T c.(2710-2712)Gat>Tat p.D904Y MRC2_ENST00000446119.2_5'UTR NM_006039.4 NP_006030.2 Q9UBG0 MRC2_HUMAN mannose receptor, C type 2 904 C-type lectin 5. endocytosis integral to membrane receptor activity|sugar binding p.D904Y(1) NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3) 53 CAGATGGACAGATGGTTCCAT 0.597000 8 17 0.00307968 0.00339172 0.003080 1 0 PCDHB12 56124 broad.mit.edu 37 5 140589508 140589508 + Silent SNP C C T TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr5:140589508C>T ENST00000239450.2 + 1 1218 c.1029C>T c.(1027-1029)aaC>aaT p.N343N PCDHB12_ENST00000541609.1_Silent_p.N6N NM_018932.3 NP_061755.1 Q9Y5F1 PCDBC_HUMAN 343 Cadherin 3. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding p.N343N(1) NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TAAACGACAACGCTCCTGAAA 0.433000 21 59 0 0 0.010504 0 0 AGO2 27161 broad.mit.edu 37 8 141561493 141561493 + Missense_Mutation SNP G G A TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr8:141561493G>A ENST00000220592.5 - 11 1424 c.1312C>T c.(1312-1314)Cgg>Tgg p.R438W AGO2_ENST00000519980.1_Missense_Mutation_p.R438W NM_012154.3 NP_036286.2 argonaute RISC catalytic component 2 p.R438W(2) TGCTTGTTCCGCATGTCCCAG 0.532000 4 120 0 0 0.009096 0 0 USP1 7398 broad.mit.edu 37 1 62910726 62910726 + Nonsense_Mutation SNP C C G TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr1:62910726C>G ENST00000339950.4 + 6 1690 c.875C>G c.(874-876)tCa>tGa p.S292* USP1_ENST00000371146.1_Nonsense_Mutation_p.S292* NM_003368.4 NP_003359.3 O94782 UBP1_HUMAN ubiquitin specific peptidase 1 292 DNA repair|monoubiquitinated protein deubiquitination|regulation of DNA repair|response to UV|ubiquitin-dependent protein catabolic process nucleoplasm cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity p.S292*(1) breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(2)|stomach(1) 19 all_neural(321;0.0281) BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535) GAACACCAGTCATTGGAAGAG 0.328000 23 52 0 0 0.014323 0 0 LAMC3 10319 broad.mit.edu 37 9 133948700 133948700 + Silent SNP C C A TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr9:133948700C>A ENST00000361069.4 + 20 3619 c.3486C>A c.(3484-3486)ctC>ctA p.L1162L LAMC3_ENST00000480883.1_Intron NM_006059.3 NP_006050.3 Q9Y6N6 LAMC3_HUMAN laminin, gamma 3 1162 Domain II and I. cell adhesion basement membrane|membrane structural molecule activity p.L1162L(1) endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 69 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551) CCCGTGCCCTCGCCAGGAGGT 0.602000 22 41 1.96895e-08 2.55045e-08 0.016522 1 0 MGAM 8972 broad.mit.edu 37 7 141727025 141727025 + Nonsense_Mutation SNP G G T TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr7:141727025G>T ENST00000475668.2 + 9 1147 c.1093G>T c.(1093-1095)Gag>Tag p.E365* MGAM_ENST00000549489.2_Nonsense_Mutation_p.E365* O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 365 Maltase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity p.E365*(3) cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) AGAATATCTAGAGGTAAACTT 0.413000 54 75 1.32667e-27 2.16776e-27 0.014410 1 0 ATXN1 6310 broad.mit.edu 37 6 16327897 16327897 + Missense_Mutation SNP C C A TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr6:16327897C>A ENST00000244769.4 - 8 1581 c.645G>T c.(643-645)caG>caT p.Q215H ATXN1_ENST00000436367.1_Missense_Mutation_p.Q215H NM_000332.3 NP_000323.2 P54253 ATX1_HUMAN ataxin 1 215 Poly-Gln. cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association p.Q215H(1) 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) gctgctgctgctgctgctgct 0.667000 3 6 2.56e-06 3.2e-06 0.009096 1 0 SIN3B 23309 broad.mit.edu 37 19 16942395 16942395 + Silent SNP C C T TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr19:16942395C>T ENST00000379803.1 + 3 332 c.318C>T c.(316-318)ctC>ctT p.L106L SIN3B_ENST00000248054.5_Silent_p.L106L|SIN3B_ENST00000596802.1_Silent_p.L106L NM_015260.2 NP_056075.1 O75182 SIN3B_HUMAN SIN3 transcription regulator family member B 106 PAH 1. cellular lipid metabolic process|transcription, DNA-dependent nucleoplasm protein binding p.L106L(2) endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 26 TTCTTCCCCTCGGATATAGAA 0.488000 41 118 0 0 0.006230 0 0 OPTC 26254 broad.mit.edu 37 1 203467938 203467938 + Missense_Mutation SNP G G A rs114769450 byFrequency TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr1:203467938G>A ENST00000367222.2 + 4 616 c.500G>A c.(499-501)cGt>cAt p.R167H NM_014359.3 NP_055174.1 Q9UBM4 OPT_HUMAN opticin 167 proteinaceous extracellular matrix extracellular matrix structural constituent|protein binding p.R167H(1) breast(1)|cervix(1)|kidney(5)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1) 20 BRCA - Breast invasive adenocarcinoma(75;0.109) CGCATCAGCCGTATCAGGGCC 0.552000 33 46 0 0 0.019004 0 0 C3orf56 285311 broad.mit.edu 37 3 126916014 126916014 + Silent SNP C C A TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr3:126916014C>A ENST00000398112.1 + 2 726 c.486C>A c.(484-486)gcC>gcA p.A162A NM_001007534.2 NP_001007535.1 chromosome 3 open reading frame 56 p.A162A(1) breast(1)|endometrium(2)|kidney(1)|lung(5) 9 GBM - Glioblastoma multiforme(114;0.142) GGACTCCAGCCAGCTCAGCCC 0.627000 45 75 2.95478e-19 4.58816e-19 0.008740 1 0 OR2M7 391196 broad.mit.edu 37 1 248487582 248487582 + Missense_Mutation SNP A A T TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr1:248487582A>T ENST00000317965.2 - 1 317 c.289T>A c.(289-291)Tgt>Agt p.C97S NM_001004691.1 NP_001004691.1 Q8NG81 OR2M7_HUMAN olfactory receptor, family 2, subfamily M, member 7 97 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.C97S(1) breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3) 42 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TGTGTGGCACAGCCAGCCATA 0.483000 167 251 0 0 0.014410 0 0 ZNF780A 284323 broad.mit.edu 37 19 40581425 40581425 + Missense_Mutation SNP C C A TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr19:40581425C>A ENST00000450241.2 - 6 1133 c.822G>T c.(820-822)aaG>aaT p.K274N ZNF780A_ENST00000594395.1_Missense_Mutation_p.K309N|ZNF780A_ENST00000595687.2_Missense_Mutation_p.K308N|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000455521.1_Missense_Mutation_p.K309N|ZNF780A_ENST00000340963.5_Missense_Mutation_p.K308N O75290 Z780A_HUMAN zinc finger protein 780A 308 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.K274N(1)|p.K309N(1) breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1) 31 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) TCCCACATTCCTTACATACAA 0.388000 58 174 3.91957e-13 5.63157e-13 0.014410 1 0 ATP4A 495 broad.mit.edu 37 19 36053478 36053478 + Silent SNP T T C TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr19:36053478T>C ENST00000262623.3 - 4 307 c.279A>G c.(277-279)ccA>ccG p.P93P NM_000704.2 NP_000695.2 P20648 ATP4A_HUMAN ATPase, H+/K+ exchanging, alpha polypeptide 93 ATP biosynthetic process|ATP hydrolysis coupled proton transport integral to plasma membrane ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding p.P93P(1) breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 53 all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831) TGCCCCGTGGTGGCCGCAGTG 0.706000 5 16 0 0 0.014758 0 0 ZNF518B 85460 broad.mit.edu 37 4 10446391 10446391 + Missense_Mutation SNP T T A TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr4:10446391T>A ENST00000326756.3 - 3 2000 c.1562A>T c.(1561-1563)cAc>cTc p.H521L NM_053042.2 NP_444270.2 Q9C0D4 Z518B_HUMAN zinc finger protein 518B 521 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.H521L(1) breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 42 TGAGCTACTGTGTAAATTTCT 0.403000 25 81 0 0 0.004656 0 0 ANPEP 290 broad.mit.edu 37 15 90347501 90347501 + Missense_Mutation SNP G G A TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr15:90347501G>A ENST00000300060.6 - 6 1475 c.1162C>T c.(1162-1164)Cat>Tat p.H388Y NM_001150.2 NP_001141.2 P15144 AMPN_HUMAN alanyl (membrane) aminopeptidase 388 Metalloprotease. angiogenesis|cell differentiation|interspecies interaction between organisms cytosol|ER-Golgi intermediate compartment|integral to plasma membrane aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding p.H388Y(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 57 Lung NSC(78;0.0221)|all_lung(78;0.0448) BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169) Ezetimibe(DB00973) GCCAGCTCATGAGCAATCACA 0.642000 32 90 0 0 0.012213 0 0 OR4Q3 441669 broad.mit.edu 37 14 20215981 20215981 + Missense_Mutation SNP G G T TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr14:20215981G>T ENST00000331723.1 + 1 395 c.395G>T c.(394-396)cGc>cTc p.R132L NM_172194.1 NP_751944.1 Q8NH05 OR4Q3_HUMAN olfactory receptor, family 4, subfamily Q, member 3 132 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R132H(1)|p.R132L(1) NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2) 47 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) AACCCTTTGCGCTACCTTACA 0.493000 8 108 0.00621372 0.0067248 0.006214 1 0 DSEL 92126 broad.mit.edu 37 18 65181026 65181026 + Missense_Mutation SNP C C A TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr18:65181026C>A ENST00000310045.7 - 2 2323 c.850G>T c.(850-852)Gat>Tat p.D284Y CTD-2541J13.2_ENST00000583493.1_RNA NM_032160.2 NP_115536.1 Q8IZU8 DSEL_HUMAN dermatan sulfate epimerase-like 274 integral to membrane isomerase activity|sulfotransferase activity p.D284Y(1) NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 74 Esophageal squamous(42;0.129) ACACCTTCATCCAAAGAACCA 0.378000 12 92 1.61879e-10 2.24832e-10 0.013537 1 0 AASS 10157 broad.mit.edu 37 7 121773752 121773752 + Missense_Mutation SNP C C T TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr7:121773752C>T ENST00000393376.1 - 1 124 c.29G>A c.(28-30)gGc>gAc p.G10D AASS_ENST00000473553.1_Intron|AASS_ENST00000417368.2_Missense_Mutation_p.G10D Q9UDR5 AASS_HUMAN aminoadipate-semialdehyde synthase 10 protein tetramerization mitochondrial matrix binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity p.G10D(1) autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 54 L-Glutamic Acid(DB00142)|NADH(DB00157) CCCCAGCCTGCCCAGTCCAGT 0.562000 4 173 0 0 0.009096 0 0 SQSTM1 8878 broad.mit.edu 37 5 179249978 179249978 + Missense_Mutation SNP G G T TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr5:179249978G>T ENST00000389805.4 + 2 404 c.226G>T c.(226-228)Gcc>Tcc p.A76S SQSTM1_ENST00000376929.3_5'UTR|SQSTM1_ENST00000510187.1_Missense_Mutation_p.A76S|SQSTM1_ENST00000360718.5_5'UTR|SQSTM1_ENST00000402874.3_5'UTR NM_003900.4 NP_003891.1 Q13501 SQSTM_HUMAN sequestosome 1 76 Interaction with PAWR.|Interaction with PRKCZ and dimerization (By similarity).|OPR. anti-apoptosis|apoptosis|cell differentiation|endosome transport|induction of apoptosis by extracellular signals|intracellular signal transduction|macroautophagy|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein localization|regulation of I-kappaB kinase/NF-kappaB cascade|ubiquitin-dependent protein catabolic process cytosol|late endosome|nucleoplasm protein kinase C binding|receptor tyrosine kinase binding|SH2 domain binding|ubiquitin binding|zinc ion binding p.A76S(1) SQSTM1/ALK(2) NS(1)|breast(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(5)|ovary(1) 13 all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243) all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GGACTTGGTTGCCTTTTCCAG 0.517000 7 51 5.4927e-09 7.26548e-09 0.004482 1 0 CD5L 922 broad.mit.edu 37 1 157805889 157805889 + Nonsense_Mutation SNP C C A TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr1:157805889C>A ENST00000368174.4 - 3 208 c.112G>T c.(112-114)Gag>Tag p.E38* CD5L_ENST00000484609.1_5'UTR NM_005894.2 NP_005885.1 O43866 CD5L_HUMAN CD5 molecule-like 38 SRCR 1. apoptosis|cellular defense response extracellular space|membrane scavenger receptor activity p.E38*(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 52 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) TGTTCCACCTCCACCCGCCCT 0.632000 40 74 1.59361e-14 2.32984e-14 0.006999 1 0 ATRIP 84126 broad.mit.edu 37 3 48491469 48491469 + Missense_Mutation SNP G G T TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr3:48491469G>T ENST00000320211.3 + 2 387 c.274G>T c.(274-276)Gat>Tat p.D92Y ATRIP_ENST00000412052.1_5'UTR|ATRIP_ENST00000357105.6_5'UTR|ATRIP_ENST00000346691.4_Missense_Mutation_p.D92Y NM_130384.1 NP_569055.1 Q8WXE1 ATRIP_HUMAN ATR interacting protein 92 DNA damage checkpoint|DNA repair|DNA replication nucleoplasm protein binding|protein serine/threonine kinase activity p.D92Y(1) central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(6)|lung(8)|ovary(3)|prostate(1) 22 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) CAGATTATTAGATGGCATGTC 0.338000 Other conserved DNA damage response genes 77 136 1.35621e-51 2.35453e-51 0.014410 1 0 TRIM55 84675 broad.mit.edu 37 8 67086790 67086790 + Missense_Mutation SNP A A T TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr8:67086790A>T ENST00000315962.4 + 10 1982 c.1609A>T c.(1609-1611)Atc>Ttc p.I537F TRIM55_ENST00000276573.7_3'UTR|TRIM55_ENST00000353317.5_Missense_Mutation_p.I441F|TRIM55_ENST00000350034.4_Missense_Mutation_p.I230F NM_184085.1 NP_908973.1 Q9BYV6 TRI55_HUMAN tripartite motif containing 55 537 cytoplasm|microtubule|nucleus signal transducer activity|zinc ion binding p.I537F(1) breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2) 39 Lung NSC(129;0.138)|all_lung(136;0.221) Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904) AGCTCGCCATATCTTCTCCTT 0.532000 5 140 0 0 0.001984 0 0 REV3L 5980 broad.mit.edu 37 6 111694531 111694531 + Missense_Mutation SNP T T A TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr6:111694531T>A ENST00000435970.1 - 15 5609 c.4793A>T c.(4792-4794)aAg>aTg p.K1598M REV3L_ENST00000368802.3_Missense_Mutation_p.K1676M|REV3L_ENST00000368805.1_Missense_Mutation_p.K1676M|REV3L_ENST00000358835.3_Missense_Mutation_p.K1676M O60673 DPOLZ_HUMAN REV3-like, polymerase (DNA directed), zeta, catalytic subunit 1676 DNA-dependent DNA replication|translesion synthesis nucleus|zeta DNA polymerase complex DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding p.K1676M(1)|p.K1598M(1) NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 88 all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021) OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663) acttaggaacttctgaggcaa 0.348000 DNA polymerases (catalytic subunits) 10 38 0 0 0.008291 0 0 LOC653786 653786 broad.mit.edu 37 16 22558349 22558349 + RNA SNP G G T TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr16:22558349G>T ENST00000550753.1 + 0 1331 NR_003676.2 CTTTTCTCAGGAGATGAATTA 0.428000 6 53 0.00448238 0.00491489 0.004482 1 0 CFH 3075 broad.mit.edu 37 1 196658660 196658660 + Missense_Mutation SNP G G A TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr1:196658660G>A ENST00000367429.4 + 8 1315 c.1075G>A c.(1075-1077)Gaa>Aaa p.E359K CFH_ENST00000359637.2_Missense_Mutation_p.E295K|CFH_ENST00000439155.2_Missense_Mutation_p.E359K NM_000186.3 NP_000177.2 P08603 CFAH_HUMAN complement factor H 359 Sushi 6. complement activation, alternative pathway extracellular space p.E359K(1) NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 101 TTACTGTGATGAACATTTTGA 0.408000 30 58 0 0 0.007291 0 0 RAB15 376267 broad.mit.edu 37 14 65417042 65417042 + Splice_Site SNP C C A TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr14:65417042C>A ENST00000533601.2 - 5 752 c.e5+1 CHURC1-FNTB_ENST00000542227.1_Intron|CHURC1-FNTB_ENST00000447296.2_Intron|RAB15_ENST00000426039.3_Splice_Site|RAB15_ENST00000436278.2_Splice_Site|RAB15_ENST00000267512.5_Splice_Site P59190 RAB15_HUMAN RAB15, member RAS oncogene family protein transport|small GTPase mediated signal transduction plasma membrane GTP binding p.?(1) endometrium(1)|large_intestine(2)|lung(4)|ovary(1) 8 all cancers(60;0.00136)|OV - Ovarian serous cystadenocarcinoma(108;0.00593)|BRCA - Breast invasive adenocarcinoma(234;0.0102) CCTCCACTTACCTGCTGCCCT 0.592000 58 215 2.44918e-20 3.82685e-20 0.014410 1 0 SLC25A44 9673 broad.mit.edu 37 1 156180134 156180134 + Missense_Mutation SNP C C T TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr1:156180134C>T ENST00000359511.4 + 4 1029 c.857C>T c.(856-858)aCa>aTa p.T286I SLC25A44_ENST00000469537.1_3'UTR|SLC25A44_ENST00000423538.2_Missense_Mutation_p.T263I NM_014655.2 NP_055470.1 Q96H78 S2544_HUMAN solute carrier family 25, member 44 286 transmembrane transport integral to membrane|mitochondrial inner membrane binding p.T286I(1) breast(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 Hepatocellular(266;0.158) ATCTCAGCCACACCTTCCACC 0.567000 6 71 0 0 0.001168 0 0 TTN 7273 broad.mit.edu 37 2 179433977 179433977 + Missense_Mutation SNP C C G TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr2:179433977C>G ENST00000589042.1 - 326 77106 c.76882G>C c.(76882-76884)Gat>Cat p.D25628H TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D23987H|TTN_ENST00000359218.5_Missense_Mutation_p.D16688H|TTN_ENST00000342175.6_Missense_Mutation_p.D16755H|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D16563H|TTN_ENST00000342992.6_Missense_Mutation_p.D23060H|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 23987 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.D16688H(1)|p.D16563H(1)|p.D23060H(1)|p.D16755H(1)|p.D23058H(1) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GATCCCCCATCCAACAAAGGA 0.398000 119 260 0 0 0.014410 0 0 SLC17A6 57084 broad.mit.edu 37 11 22380959 22380959 + Splice_Site SNP G G T TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr11:22380959G>T ENST00000263160.3 + 4 896 c.458_splice c.e4-1 p.R153_splice NM_020346.2 NP_065079.1 Q9P2U8 VGLU2_HUMAN solute carrier family 17 (vesicular glutamate transporter), member 6 153 sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity p.R153S(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3) 50 TCTATTTCAGGGTTTTCGGAG 0.343000 9 47 5.4927e-09 7.26548e-09 0.004482 1 0 ZNF18 7566 broad.mit.edu 37 17 11895767 11895767 + Missense_Mutation SNP C C A TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr17:11895767C>A ENST00000322748.3 - 4 984 c.380G>T c.(379-381)tGg>tTg p.W127L ZNF18_ENST00000580613.1_Missense_Mutation_p.W76L|ZNF18_ENST00000580306.1_Missense_Mutation_p.W127L|ZNF18_ENST00000454073.3_Missense_Mutation_p.W127L NM_144680.2 NP_653281.2 P17022 ZNF18_HUMAN zinc finger protein 18 127 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.W127L(1) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4) 14 Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233) TACCCATTGCCACAGTCTCTG 0.527000 32 43 1.08312e-15 1.62144e-15 0.009535 1 0 MARK4 57787 broad.mit.edu 37 19 45805827 45805827 + Silent SNP C C G TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr19:45805827C>G ENST00000262891.4 + 17 2449 c.2118C>G c.(2116-2118)ccC>ccG p.P706P MARK4_ENST00000300843.4_3'UTR NM_001199867.1 NP_001186796.1 Q96L34 MARK4_HUMAN MAP/microtubule affinity-regulating kinase 4 706 KA1. microtubule bundle formation|nervous system development|positive regulation of programmed cell death centrosome|neuron projection ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 31 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0102) CGGGCGGGCCCGAGCCCCTGT 0.741000 4 3 0 0 0.001168 0 0 FIGNL1 63979 broad.mit.edu 37 7 50513841 50513841 + Missense_Mutation SNP T T C TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr7:50513841T>C ENST00000419119.1 - 2 2698 c.1145A>G c.(1144-1146)aAg>aGg p.K382R FIGNL1_ENST00000356889.4_Missense_Mutation_p.K382R|FIGNL1_ENST00000395556.2_Missense_Mutation_p.K382R|FIGNL1_ENST00000433017.1_Missense_Mutation_p.K382R Q6PIW4 FIGL1_HUMAN fidgetin-like 1 382 ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle cytoplasm|nucleus ATP binding|magnesium ion binding|nucleoside-triphosphatase activity p.K382R(1) endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1) 29 Glioma(55;0.08)|all_neural(89;0.245) Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06) TTCAATCATCTTTGGCTCCAA 0.438000 68 186 0 0 0.014410 0 0 TENM3 55714 broad.mit.edu 37 4 183245345 183245345 + Missense_Mutation SNP C C A TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr4:183245345C>A ENST00000511685.1 + 2 295 c.172C>A c.(172-174)Ctt>Att p.L58I TENM3_ENST00000406950.2_Missense_Mutation_p.L58I teneurin transmembrane protein 3 p.L58I(1) CTCGCGGCTGCTTTACGGCAA 0.478000 23 76 0.00278032 0.00310304 0.016522 1 0 MRPS17 51373 broad.mit.edu 37 7 55980359 55980359 + Splice_Site SNP G G T TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr7:55980359G>T ENST00000426595.1 + 4 984 c.e4-1 ZNF713_ENST00000429591.2_5'UTR|ZNF713_ENST00000482436.1_3'UTR Q9Y2R5 RT17_HUMAN mitochondrial ribosomal protein S17 translation mitochondrial small ribosomal subunit rRNA binding|structural constituent of ribosome kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1) 8 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) TTTTTTCTCAGGAGGGGAACA 0.408000 10 30 0.00136819 0.00155477 0.013537 1 0 TSTD2 158427 broad.mit.edu 37 9 100389587 100389587 + Splice_Site SNP C C T TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr9:100389587C>T ENST00000375172.2 - 2 366 c.e2+1 TSTD2_ENST00000375165.1_Splice_Site|TSTD2_ENST00000341170.4_Intron|TSTD2_ENST00000354801.2_Intron Q5T7W7 TSTD2_HUMAN thiosulfate sulfurtransferase (rhodanese)-like domain containing 2 large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 15 CTAGACTTTACCTTGAGCTGG 0.418000 3 17 0 0 0.004672 0 0 CRB1 23418 broad.mit.edu 37 1 197404357 197404357 + Nonsense_Mutation SNP G G T TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr1:197404357G>T ENST00000367397.1 + 5 2365 c.1507G>T c.(1507-1509)Gaa>Taa p.E503* CRB1_ENST00000544212.1_Nonsense_Mutation_p.E603*|CRB1_ENST00000535699.1_Nonsense_Mutation_p.E1098*|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000367400.3_Nonsense_Mutation_p.E1122*|CRB1_ENST00000367399.2_Nonsense_Mutation_p.E1010* P82279 CRUM1_HUMAN crumbs homolog 1 (Drosophila) 1122 Laminin G-like 1. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding p.Q1121_E1122>H*(1) 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 TAAACCTCAGGAAGAGCAATT 0.398000 23 61 3.62473e-10 4.95182e-10 0.012319 1 0 GPR111 222611 broad.mit.edu 37 6 47647861 47647861 + Missense_Mutation SNP A A G TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr6:47647861A>G ENST00000398742.2 + 4 371 c.322A>G c.(322-324)Act>Gct p.T108A GPR111_ENST00000296862.1_Missense_Mutation_p.T176A|GPR111_ENST00000507065.1_Missense_Mutation_p.T108A Q8IZF7 GP111_HUMAN G protein-coupled receptor 111 176 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity p.T176A(1)|p.T108A(1) NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 AAGTGTATATACTGGAAAGTC 0.333000 10 27 0 0 0.006214 0 0 SOX5 6660 broad.mit.edu 37 12 23687401 23687401 + Missense_Mutation SNP C C T TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr12:23687401C>T ENST00000546136.1 - 14 2007 c.2005G>A c.(2005-2007)Gcc>Acc p.A669T SOX5_ENST00000396007.2_Missense_Mutation_p.A296T|SOX5_ENST00000309359.1_Missense_Mutation_p.A669T|SOX5_ENST00000545921.1_Missense_Mutation_p.A672T|SOX5_ENST00000541536.1_Missense_Mutation_p.A561T|SOX5_ENST00000537393.1_Missense_Mutation_p.A647T|SOX5_ENST00000381381.2_Missense_Mutation_p.A561T|SOX5_ENST00000451604.2_Missense_Mutation_p.A682T P35711 SOX5_HUMAN SRY (sex determining region Y)-box 5 682 transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity p.A682T(1) NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3) 57 CCAGCCATGGCGATGGCTCCA 0.552000 9 69 0 0 0.004482 0 0 HIST2H2AC 8338 broad.mit.edu 37 1 149858886 149858886 + Missense_Mutation SNP C C T TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr1:149858886C>T ENST00000331380.2 + 1 362 c.362C>T c.(361-363)aCc>aTc p.T121I NM_003517.2 NP_003508.1 Q16777 H2A2C_HUMAN histone cluster 2, H2ac 121 nucleosome assembly nucleosome|nucleus DNA binding p.T121N(1)|p.T121I(1) NS(1)|breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|ovary(1)|skin(1) 20 Breast(34;0.0124)|all_hematologic(923;0.127) STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221) CCAAAGAAAACCGAAAGCCAC 0.473000 19 99 0 0 0.010504 0 0 RSL24D1 51187 broad.mit.edu 37 15 55489023 55489023 + Silent SNP G G A TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr15:55489023G>A ENST00000260443.4 - 1 242 c.66C>T c.(64-66)gtC>gtT p.V22V NM_016304.2 NP_057388.1 Q9UHA3 RLP24_HUMAN ribosomal L24 domain containing 1 22 ribosome biogenesis|translation nucleolus|ribosome structural constituent of ribosome p.V22V(1) central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1) 7 AATCGTTGCGGACGAACATCA 0.582000 OREG0023135 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 17 39 0 0 0.006122 0 0 FN1 2335 broad.mit.edu 37 2 216274436 216274436 + Missense_Mutation SNP G G T TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr2:216274436G>T ENST00000354785.4 - 15 2518 c.2149C>A c.(2149-2151)Ccc>Acc p.P717T FN1_ENST00000323926.6_Missense_Mutation_p.P717T|FN1_ENST00000421182.1_Missense_Mutation_p.P717T|FN1_ENST00000357867.4_Missense_Mutation_p.P717T|FN1_ENST00000359671.1_Missense_Mutation_p.P717T|FN1_ENST00000357009.2_Missense_Mutation_p.P717T|FN1_ENST00000346544.3_Missense_Mutation_p.P717T|FN1_ENST00000345488.5_Missense_Mutation_p.P717T|FN1_ENST00000336916.4_Missense_Mutation_p.P717T|FN1_ENST00000446046.1_Missense_Mutation_p.P717T|FN1_ENST00000443816.1_Missense_Mutation_p.P717T|FN1_ENST00000432072.2_Missense_Mutation_p.P717T|FN1_ENST00000356005.4_Missense_Mutation_p.P717T P02751 FINC_HUMAN fibronectin 1 717 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 p.P717T(2) 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) GGAGAAAAGGGAGTCGTCTCT 0.512000 7 49 0.000157383 0.000184722 0.003080 1 0 PRSS23 11098 broad.mit.edu 37 11 86662265 86662265 + Nonsense_Mutation SNP C C T TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr11:86662265C>T ENST00000533902.2 + 3 356 c.214C>T c.(214-216)Caa>Taa p.Q72* FZD4_ENST00000531380.1_Silent_p.L511L|PRSS23_ENST00000531521.1_3'UTR O95084 PRS23_HUMAN protease, serine, 23 0 proteolysis extracellular region|nucleus serine-type endopeptidase activity p.L511L(1) central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 18 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) CAGAATTCACCAATCTGTTGG 0.453000 13 85 0 0 0.013537 0 0 OR51S1 119692 broad.mit.edu 37 11 4869601 4869601 + Missense_Mutation SNP G G T TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr11:4869601G>T ENST00000322101.2 - 1 913 c.838C>A c.(838-840)Cat>Aat p.H280N MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron NM_001004758.1 NP_001004758.1 Q8NGJ8 O51S1_HUMAN olfactory receptor, family 51, subfamily S, member 1 280 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.H280N(1) endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) AGAAGAGTATGGGTATGCTGA 0.443000 18 77 2.35188e-11 3.3032e-11 0.006122 1 0 KIAA0319 9856 broad.mit.edu 37 6 24596749 24596749 + Silent SNP G G A TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr6:24596749G>A ENST00000535378.1 - 4 768 c.126C>T c.(124-126)acC>acT p.T42T KIAA0319_ENST00000378214.3_Silent_p.T51T|KIAA0319_ENST00000430948.2_Silent_p.T6T|KIAA0319_ENST00000537886.1_Silent_p.T51T|KIAA0319_ENST00000543707.1_Silent_p.T51T NM_001168374.1 NP_001161846.1 Q5VV43 K0319_HUMAN KIAA0319 51 MANSC. negative regulation of dendrite development|neuron migration early endosome membrane|integral to membrane|plasma membrane protein binding p.T51T(1) breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 53 CGACAGGGAAGGTGTGAGACA 0.582000 14 57 0 0 0.016723 0 0 MAT2A 4144 broad.mit.edu 37 2 85768989 85768989 + Missense_Mutation SNP A A T TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr2:85768989A>T ENST00000306434.3 + 5 566 c.443A>T c.(442-444)gAg>gTg p.E148V MAT2A_ENST00000490878.1_3'UTR|MAT2A_ENST00000409017.1_Missense_Mutation_p.E85V NM_005911.5 NP_005902.1 P31153 METK2_HUMAN methionine adenosyltransferase II, alpha 148 methylation|xenobiotic metabolic process cytosol ATP binding|metal ion binding|methionine adenosyltransferase activity p.E148V(1) breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 9 L-Methionine(DB00134)|S-Adenosylmethionine(DB00118) GAAACTGAGGAGTGTATGCCT 0.408000 20 134 0 0 0.014323 0 0 DPT 1805 broad.mit.edu 37 1 168683502 168683502 + Missense_Mutation SNP A A T rs149928380 by1000genomes TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr1:168683502A>T ENST00000367817.3 - 2 477 c.388T>A c.(388-390)Ttt>Att p.F130I NM_001937.4 NP_001928.2 Q07507 DERM_HUMAN dermatopontin 130 2 X 53-55 AA tandem repeats.|3 X 6 AA repeats of D-R-[EQ]-W-[NQK]- [FY]. cell adhesion extracellular space|proteinaceous extracellular matrix p.F130I(1) kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2) 12 all_hematologic(923;0.208) CAACAGTAAAACTGCCACTCC 0.572000 4 63 0 0 0.009096 0 0 AHNAK 79026 broad.mit.edu 37 11 62287869 62287869 + Missense_Mutation SNP C C A TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr11:62287869C>A ENST00000378024.4 - 5 14294 c.14020G>T c.(14020-14022)Gtg>Ttg p.V4674L AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 4674 nervous system development nucleus protein binding p.V4674L(1) NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) GGCAGGTTCACATCCACATCT 0.512000 78 380 7.14593e-30 1.19099e-29 0.014410 1 0 CNTNAP4 85445 broad.mit.edu 37 16 76350353 76350353 + Silent SNP C C T TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr16:76350353C>T ENST00000307431.8 + 3 511 c.126C>T c.(124-126)tcC>tcT p.S42S CNTNAP4_ENST00000476707.1_Silent_p.S46S|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Silent_p.S18S|CNTNAP4_ENST00000377504.4_Silent_p.S42S NM_033401.3 NP_207837.2 Q9C0A0 CNTP4_HUMAN contactin associated protein-like 4 43 F5/8 type C. cell adhesion|signal transduction integral to membrane receptor binding p.S18S(2)|p.S42S(1) breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 64 CTCAGGCATCCTTCAGCAGTT 0.502000 10 40 0 0 0.006214 0 0 MLC1 23209 broad.mit.edu 37 22 50502513 50502513 + Missense_Mutation SNP C C T TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr22:50502513C>T ENST00000311597.5 - 11 1615 c.1009G>A c.(1009-1011)Ggt>Agt p.G337S MLC1_ENST00000538737.1_Missense_Mutation_p.G303S|MLC1_ENST00000450140.2_Missense_Mutation_p.G285S|MLC1_ENST00000431262.2_Missense_Mutation_p.G307S|MLC1_ENST00000483836.1_5'UTR|MLC1_ENST00000535444.1_Missense_Mutation_p.G258S|MLC1_ENST00000395876.2_Missense_Mutation_p.G337S NM_015166.3 NP_055981.1 Q15049 MLC1_HUMAN megalencephalic leukoencephalopathy with subcortical cysts 1 337 basolateral plasma membrane|endosome|integral to membrane|integral to membrane of membrane fraction ion channel activity p.G337S(1) endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(3) 18 all_cancers(38;7.69e-11)|all_epithelial(38;9.52e-10)|all_lung(38;3.67e-05)|Breast(42;0.000776)|Lung NSC(38;0.000946)|Ovarian(80;0.0365)|Lung SC(80;0.113) READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216) CAGGATGCACCCTGCAGCCTT 0.697000 15 57 0 0 0.006122 0 0 DLGAP1 9229 broad.mit.edu 37 18 3502639 3502639 + Missense_Mutation SNP G G C TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr18:3502639G>C ENST00000315677.3 - 12 3171 c.2576C>G c.(2575-2577)cCt>cGt p.P859R DLGAP1_ENST00000584874.1_Missense_Mutation_p.P859R|DLGAP1_ENST00000581699.1_Missense_Mutation_p.P565R|DLGAP1_ENST00000581527.1_Missense_Mutation_p.P859R|DLGAP1_ENST00000539435.1_Missense_Mutation_p.P567R|DLGAP1_ENST00000400147.2_Missense_Mutation_p.P557R|DLGAP1_ENST00000515196.2_Missense_Mutation_p.P859R|DLGAP1_ENST00000534970.1_Missense_Mutation_p.P543R|DLGAP1_ENST00000400145.2_Missense_Mutation_p.P557R|DLGAP1_ENST00000400149.3_Missense_Mutation_p.P549R|DLGAP1_ENST00000400155.1_Missense_Mutation_p.P565R|DLGAP1_ENST00000400150.3_Missense_Mutation_p.P575R NM_004746.3 NP_004737.2 O14490 DLGP1_HUMAN discs, large (Drosophila) homolog-associated protein 1 859 synaptic transmission cell junction|postsynaptic density|postsynaptic membrane p.P859R(1)|p.P567R(1) breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1) 56 Colorectal(8;0.0257) ATGAGCATTAGGATTCTGCAC 0.388000 15 56 0 0 0.003163 0 0 DYRK3 8444 broad.mit.edu 37 1 206821060 206821060 + Missense_Mutation SNP C C T TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr1:206821060C>T ENST00000367106.1 + 4 930 c.457C>T c.(457-459)Cca>Tca p.P153S DYRK3_ENST00000367108.3_Missense_Mutation_p.P153S|DYRK3_ENST00000489878.1_Intron|DYRK3_ENST00000367109.2_Missense_Mutation_p.P173S O43781 DYRK3_HUMAN dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3 173 erythrocyte differentiation nucleus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.P138S(1)|p.P173S(1) central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2) 25 Breast(84;0.183) BRCA - Breast invasive adenocarcinoma(75;0.166) CTTTGTAGGTCCAAATGCCAA 0.423000 44 79 0 0 0.009718 0 0 ST18 9705 broad.mit.edu 37 8 53044594 53044594 + Nonsense_Mutation SNP G G A TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr8:53044594G>A ENST00000276480.7 - 22 3273 c.2590C>T c.(2590-2592)Caa>Taa p.Q864* NM_014682.2 NP_055497.1 O60284 ST18_HUMAN suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) 864 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.Q864*(1) NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) GGTAGCTCTTGTTTGTTCAGT 0.488000 25 62 0 0 0.016522 0 0 RDH16 8608 broad.mit.edu 37 12 57346753 57346753 + Silent SNP C C A TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr12:57346753C>A ENST00000398138.3 - 3 1450 c.594G>T c.(592-594)ggG>ggT p.G198G RDH16_ENST00000360752.4_5'UTR NM_003708.3 NP_003699.3 O75452 RDH16_HUMAN retinol dehydrogenase 16 (all-trans) 198 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome binding|electron carrier activity|retinol dehydrogenase activity p.G198G(2) haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9) 16 CCACCTTCACCCCAAAGTAGG 0.458000 73 106 3.82274e-22 6.04864e-22 0.014410 1 0 NPL 80896 broad.mit.edu 37 1 182791305 182791305 + Missense_Mutation SNP A A G TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr1:182791305A>G ENST00000367554.3 + 9 970 c.652A>G c.(652-654)Aag>Gag p.K218E NPL_ENST00000258317.2_Missense_Mutation_p.K237E|NPL_ENST00000367555.1_Intron|NPL_ENST00000367552.2_Intron|NPL_ENST00000367553.1_Missense_Mutation_p.K237E|NPL_ENST00000463899.1_3'UTR NM_001200050.1 NP_001186979.1 Q9BXD5 NPL_HUMAN N-acetylneuraminate pyruvate lyase (dihydrodipicolinate synthase) 237 carbohydrate metabolic process cytoplasm N-acetylneuraminate lyase activity p.K237E(1) breast(1)|central_nervous_system(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(1)|stomach(1) 15 TTTTGAACAAAAGGACTTCTC 0.393000 4 47 0 0 0.009096 0 0 CDKN1B 1027 broad.mit.edu 37 12 12870966 12870966 + Nonsense_Mutation SNP C C T TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr12:12870966C>T ENST00000228872.4 + 1 909 c.193C>T c.(193-195)Cag>Tag p.Q65* CDKN1B_ENST00000477087.1_Intron|CDKN1B_ENST00000396340.1_Nonsense_Mutation_p.Q65* NM_004064.3 NP_004055.1 P46527 CDN1B_HUMAN cyclin-dependent kinase inhibitor 1B (p27, Kip1) 65 autophagic cell death|cell cycle arrest|cellular response to lithium ion|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process|S phase of mitotic cell cycle cytosol|endosome|nucleoplasm cyclin-dependent protein kinase inhibitor activity|protein phosphatase binding|transforming growth factor beta receptor, cytoplasmic mediator activity p.Q65*(1) breast(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(5) 13 Prostate(47;0.0322)|all_epithelial(100;0.159) BRCA - Breast invasive adenocarcinoma(232;0.0336) TTTCGATTTTCAGAATCACAA 0.582000 57 85 0 0 0.014410 0 0 MC2R 4158 broad.mit.edu 37 18 13884810 13884810 + Silent SNP C C T TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr18:13884810C>T ENST00000327606.3 - 2 888 c.708G>A c.(706-708)gtG>gtA p.V236V NM_000529.2 NP_000520.1 Q01718 ACTHR_HUMAN melanocortin 2 receptor (adrenocorticotropic hormone) 236 G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane corticotropin receptor activity|protein binding p.V236V(1) breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 Corticotropin(DB01285)|Cosyntropin(DB01284) GGACATGAAGCACAAAGGGGG 0.547000 10 41 0 0 0.006214 0 0 FSCB 84075 broad.mit.edu 37 14 44975251 44975251 + Missense_Mutation SNP C C A TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr14:44975251C>A ENST00000340446.4 - 1 1231 c.940G>T c.(940-942)Gtt>Ttt p.V314F NM_032135.3 NP_115511.3 Q5H9T9 FSCB_HUMAN fibrous sheath CABYR binding protein 314 cilium p.V314F(1) breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 89 GBM - Glioblastoma multiforme(112;0.128) TGAACTTTAACAGAATTCTCC 0.522000 13 66 5.50884e-06 6.75103e-06 0.013537 1 0 MYBPC1 4604 broad.mit.edu 37 12 102036302 102036302 + Silent SNP C C G TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr12:102036302C>G ENST00000549145.1 + 10 835 c.735C>G c.(733-735)acC>acG p.T245T MYBPC1_ENST00000536007.1_Silent_p.T213T|MYBPC1_ENST00000550270.1_Silent_p.T232T|MYBPC1_ENST00000553190.1_Silent_p.T232T|MYBPC1_ENST00000551300.1_Silent_p.T133T|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000547509.1_Silent_p.T218T|MYBPC1_ENST00000547405.1_Silent_p.T206T|MYBPC1_ENST00000545503.2_Silent_p.T232T|MYBPC1_ENST00000541119.1_Silent_p.T220T|MYBPC1_ENST00000452455.2_Silent_p.T232T|MYBPC1_ENST00000441232.1_Silent_p.T232T|MYBPC1_ENST00000392934.3_Silent_p.T219T|MYBPC1_ENST00000361685.2_Silent_p.T257T|MYBPC1_ENST00000361466.2_Silent_p.T257T|MYBPC1_ENST00000360610.2_Silent_p.T232T Q00872 MYPC1_HUMAN myosin binding protein C, slow type 232 MR -> SI (in Ref. 1; CAA46987). cell adhesion|muscle filament sliding cytosol|myofibril|myosin filament actin binding|structural constituent of muscle|titin binding p.T232T(1)|p.T257T(1) breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 57 ATGGAATCACCGACCTGCGCG 0.617000 9 62 0 0 0.004482 0 0 COL11A1 1301 broad.mit.edu 37 1 103431093 103431093 + Missense_Mutation SNP A A T TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr1:103431093A>T ENST00000358392.2 - 38 3219 c.2902T>A c.(2902-2904)Ttt>Att p.F968I COL11A1_ENST00000353414.4_Missense_Mutation_p.F917I|COL11A1_ENST00000370096.3_Missense_Mutation_p.F956I|COL11A1_ENST00000512756.1_Missense_Mutation_p.F840I NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 956 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging p.F956I(1)|p.F968I(1) NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) TTGCCTTGAAATCCCTAAGGA 0.383000 27 87 0 0 0.008361 0 0 ZFP30 22835 broad.mit.edu 37 19 38126075 38126075 + Missense_Mutation SNP T T C TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr19:38126075T>C ENST00000351218.2 - 6 1924 c.1367A>G c.(1366-1368)cAt>cGt p.H456R ZFP30_ENST00000514101.2_Missense_Mutation_p.H456R|ZFP30_ENST00000589018.1_Intron|ZFP30_ENST00000392144.1_Missense_Mutation_p.H456R NM_014898.2 NP_055713.1 Q9Y2G7 ZFP30_HUMAN ZFP30 zinc finger protein 456 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.H456R(1) autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(1) 21 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) AATACTTTGATGTTGGGTAAG 0.373000 19 51 0 0 0.006122 0 0 CAGE1 285782 broad.mit.edu 37 6 7334277 7334277 + Nonsense_Mutation SNP T T A TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr6:7334277T>A ENST00000502583.1 - 12 2980 c.2416A>T c.(2416-2418)Aga>Tga p.R806* CAGE1_ENST00000338150.4_Nonsense_Mutation_p.R771*|CAGE1_ENST00000512086.1_Nonsense_Mutation_p.R744*|CAGE1_ENST00000296742.7_Nonsense_Mutation_p.R608*|SSR1_ENST00000488834.1_5'UTR|CAGE1_ENST00000379918.4_Nonsense_Mutation_p.R784* NM_001170692.1 NP_001164163.1 Q8TC20 CAGE1_HUMAN cancer antigen 1 744 p.R771*(1)|p.R806*(1)|p.R608*(1) breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1) 19 Ovarian(93;0.0418) GCTTTTTCTCTGGGCTTTCTA 0.318000 3 10 0 0 0.009096 0 0 SALL4 57167 broad.mit.edu 37 20 50418834 50418834 + Silent SNP G G T TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr20:50418834G>T ENST00000217086.4 - 1 225 c.114C>A c.(112-114)ccC>ccA p.P38P SALL4_ENST00000371539.3_Silent_p.P38P|SALL4_ENST00000395997.3_Silent_p.P38P NM_020436.3 NP_065169.1 Q9UJQ4 SALL4_HUMAN spalt-like transcription factor 4 38 transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.P38P(1) endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 cccccgccgcgggcgccgctg 0.741000 3 21 0.004672 0.00510044 0.004672 1 0 CT47B1 643311 broad.mit.edu 37 X 120008904 120008904 + Silent SNP C C A TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chrX:120008904C>A ENST00000371311.3 - 1 875 c.621G>T c.(619-621)gtG>gtT p.V207V NM_001145718.1 NP_001139190.1 P0C2W7 CT47B_HUMAN cancer/testis antigen family 47, member B1 207 p.V207V(1) breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1) 22 GGTCAGCTGGCACTGCAGGCT 0.706000 9 84 0.00621372 0.0067248 0.006214 1 0 SIRPB1 10326 broad.mit.edu 37 20 1592052 1592052 + Silent SNP G G A TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr20:1592052G>A ENST00000279477.7 - 2 448 c.384C>T c.(382-384)ccC>ccT p.P128P SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000381596.1_5'UTR|RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000381605.4_Intron|SIRPB1_ENST00000568365.1_Silent_p.P128P NM_001135844.2 NP_001129316.1 O00241 SIRB1_HUMAN signal-regulatory protein beta 1 128 Ig-like V-type. cell junction assembly|cell surface receptor linked signaling pathway integral to plasma membrane protein binding central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 31 CCACGTGGTCGGGGCTCCCTT 0.527000 3 26 0 0 0.009096 0 0 MAGI2 9863 broad.mit.edu 37 7 77762279 77762279 + Missense_Mutation SNP G G T TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr7:77762279G>T ENST00000354212.4 - 18 3383 c.3130C>A c.(3130-3132)Cca>Aca p.P1044T MAGI2_ENST00000522391.1_Missense_Mutation_p.P1044T|MAGI2_ENST00000419488.1_Missense_Mutation_p.P1030T NM_012301.3 NP_036433.2 Q86UL8 MAGI2_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 2 1044 Pro-rich. cell junction|synapse|synaptosome phosphatase binding p.P1044T(1) NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3) 84 all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236) GGGGTGGCTGGGCTTGGCTGG 0.592000 127 283 1.41444e-48 2.43869e-48 0.014410 1 0 TRIM36 55521 broad.mit.edu 37 5 114482982 114482982 + Silent SNP G G A rs139015715 byFrequency TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr5:114482982G>A ENST00000513154.1 - 3 698 c.372C>T c.(370-372)ttC>ttT p.F124F TRIM36_ENST00000514154.1_5'UTR|TRIM36_ENST00000282369.3_Silent_p.F136F|TRIM36_ENST00000515104.1_5'UTR Q9NQ86 TRI36_HUMAN tripartite motif containing 36 136 acrosomal vesicle|cytoskeleton ligase activity|zinc ion binding p.F136F(1) breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 37 all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195) OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06) TTTCCAAAGTGAAGTTTCGAA 0.458000 11 134 0 0 0.008291 0 0 OR13C8 138802 broad.mit.edu 37 9 107332316 107332316 + Missense_Mutation SNP A A G TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr9:107332316A>G ENST00000335040.1 + 1 868 c.868A>G c.(868-870)Atg>Gtg p.M290V NM_001004483.1 NP_001004483.1 Q8NGS7 O13C8_HUMAN olfactory receptor, family 13, subfamily C, member 8 290 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.M290V(1) NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1) 25 GATGACTCCCATGCTTAATCC 0.408000 24 55 0 0 0.014323 0 0 OR51A4 401666 broad.mit.edu 37 11 4967862 4967862 + Missense_Mutation SNP G G C TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr11:4967862G>C ENST00000380373.2 - 1 494 c.469C>G c.(469-471)Ctg>Gtg p.L157V MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron NM_001005329.1 NP_001005329.1 Q8NGJ6 O51A4_HUMAN olfactory receptor, family 51, subfamily A, member 4 157 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L157V(1) large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 29 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) GGAAGAACCAGGAGCATGCTC 0.433000 8 387 0 0 0.004990 0 0 ATXN2 6311 broad.mit.edu 37 12 111951340 111951340 + Missense_Mutation SNP G G A TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr12:111951340G>A ENST00000377617.3 - 11 2020 c.1859C>T c.(1858-1860)cCt>cTt p.P620L ATXN2_ENST00000535949.1_Missense_Mutation_p.P331L|ATXN2_ENST00000550104.1_Missense_Mutation_p.P620L|ATXN2_ENST00000542287.2_Missense_Mutation_p.P355L|ATXN2_ENST00000389153.4_Missense_Mutation_p.P355L NM_002973.3 NP_002964.3 Q99700 ATX2_HUMAN ataxin 2 620 Pro-rich. cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network protein C-terminus binding|RNA binding p.P620L(1) NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 37 CATCCTTGGAGGCCCTAAGGA 0.458000 9 38 0 0 0.008291 0 0 MXRA5 25878 broad.mit.edu 37 X 3238683 3238683 + Silent SNP G G T TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chrX:3238683G>T ENST00000217939.6 - 5 5197 c.5043C>A c.(5041-5043)ccC>ccA p.P1681P NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 1681 extracellular region p.P1681P(2) NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) TAGGAATGCTGGGTTTGGACA 0.418000 60 93 1.84395e-34 3.11478e-34 0.014410 1 0 TCHH 7062 broad.mit.edu 37 1 152079909 152079909 + Missense_Mutation SNP G G C TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr1:152079909G>C ENST00000368804.1 - 2 5783 c.5784C>G c.(5782-5784)agC>agG p.S1928R NM_007113.2 NP_009044.2 Q07283 TRHY_HUMAN trichohyalin 1928 keratinization cytoskeleton calcium ion binding p.S1928R(1) NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4) 105 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CATAGAGAGGGCTGGAGCGCA 0.542000 9 191 0 0 0.006214 0 0 CACNA1E 777 broad.mit.edu 37 1 181725171 181725171 + Frame_Shift_Del DEL A A - TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr1:181725171delA ENST00000526775.1 + 28 4177 c.4012delA c.(4012-4014)acfs p.N1338fs CACNA1E_ENST00000357570.5_Frame_Shift_Del_p.N1308fs|CACNA1E_ENST00000367570.1_Frame_Shift_Del_p.N1357fs|CACNA1E_ENST00000358338.5_Frame_Shift_Del_p.N1289fs|CACNA1E_ENST00000360108.3_Frame_Shift_Del_p.N1338fs|CACNA1E_ENST00000367573.2_Frame_Shift_Del_p.N1357fs|CACNA1E_ENST00000367567.4_Frame_Shift_Del_p.N964fs NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 1357 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 CCACTACGACAACATTATCTG 0.498 14 40 --- --- --- --- RPS6KC1 26750 broad.mit.edu 37 1 213445938 213445939 + Frame_Shift_Ins INS - - T TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr1:213445938_213445939insT ENST00000366960.3 + 15 3312_3313 c.3162_3163insT c.(3160-3165)ccttttfs p.PF1054fs RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000366959.3_Frame_Shift_Ins_p.PF1042fs|RPS6KC1_ENST00000543470.1_Frame_Shift_Ins_p.PF842fs NM_012424.3 NP_036556.2 Q96S38 KS6C1_HUMAN ribosomal protein S6 kinase, 52kDa, polypeptide 1 1054 Protein kinase 2. cell communication|signal transduction early endosome|membrane ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3) 43 OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145) AATCTCATCCATTTTTTACCCC 0.441 11 137 --- --- --- --- AC016995.3 0 broad.mit.edu 37 2 38710019 38710019 + RNA DEL T T - rs2005502 by1000genomes TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr2:38710019delT ENST00000417039.1 - 0 696 CTTtaaaaaataaataaataa 0.244 2 4 --- --- --- --- TTN 7273 broad.mit.edu 37 2 179588160 179588160 + Frame_Shift_Del DEL G G - TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr2:179588160delG ENST00000589042.1 - 74 21891 c.21667delC c.(21667-21669)gtfs p.R7223fs TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Frame_Shift_Del_p.R5979fs|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Frame_Shift_Del_p.R6906fs NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 6906 Ig-like 54. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ACAAAGAGACGGGTAGTGCAA 0.413 12 36 --- --- --- --- SPDL1 54908 broad.mit.edu 37 5 169023598 169023599 + Frame_Shift_Del DEL TC TC - TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr5:169023598_169023599delTC ENST00000265295.4 + 8 1204_1205 c.925_926delTC c.(925-927)tfs p.S309fs NM_017785.4 NP_060255.3 spindle apparatus coiled-coil protein 1 GATGAAAGGGTCTCAAACTGAA 0.347 25 82 --- --- --- --- SMOC2 64094 broad.mit.edu 37 6 169053663 169053663 + Frame_Shift_Del DEL T T - TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr6:169053663delT ENST00000354536.5 + 11 1293 c.1073delT c.(1072-1074)cafs p.L358fs SMOC2_ENST00000356284.2_Frame_Shift_Del_p.L347fs NM_022138.2 NP_071421.1 Q9H3U7 SMOC2_HUMAN SPARC related modular calcium binding 2 347 EF-hand 1. signal transduction basement membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 32 Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231) OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109) AGCCATACCCTAGAGGAGCGG 0.542 9 48 --- --- --- --- ZNF395 55893 broad.mit.edu 37 8 28209226 28209228 + In_Frame_Del DEL GCA GCA - rs142343457 byFrequency TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr8:28209226_28209228delGCA ENST00000344423.5 - 7 1148_1150 c.1017_1019delTGC c.(1015-1020)gcc>gc p.AA339del ZNF395_ENST00000523202.1_In_Frame_Del_p.AA339del|ZNF395_ENST00000523095.1_In_Frame_Del_p.AA339del NM_018660.2 NP_061130.1 Q9H8N7 ZN395_HUMAN zinc finger protein 395 339 transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 Ovarian(32;2.06e-05) KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142) GGTGCCTgcggcagcagcagcag 0.606 7 162 --- --- --- --- GOLGA2P5 55592 broad.mit.edu 37 12 100562920 100562921 + RNA INS - - T rs58822438 TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr12:100562920_100562921insT ENST00000397112.4 - 0 599 NR_036632.1 large_intestine(1)|lung(3) 4 GGTCTCATTTGTTTTttttttt 0.406 3 4 --- --- --- --- ARID4A 5926 broad.mit.edu 37 14 58825910 58825911 + Frame_Shift_Ins INS - - A rs151278543 TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr14:58825910_58825911insA ENST00000355431.3 + 18 2287_2288 c.1914_1915insA c.(1912-1917)aaaaaafs p.KK638fs ARID4A_ENST00000431317.2_Frame_Shift_Ins_p.KK638fs|ARID4A_ENST00000395168.3_Frame_Shift_Ins_p.KK638fs|ARID4A_ENST00000348476.3_Frame_Shift_Ins_p.KK638fs NM_002892.3 NP_002883.3 P29374 ARI4A_HUMAN AT rich interactive domain 4A (RBP1-like) 638 negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter transcriptional repressor complex DNA binding|sequence-specific DNA binding transcription factor activity p.K638K(1) NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 GTGGACCAAAGAAAAAACAGAA 0.292 29 78 --- --- --- --- TDP1 55775 broad.mit.edu 37 14 90455406 90455415 + Frame_Shift_Del DEL CAGGAAAAAG CAGGAAAAAG - TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr14:90455406_90455415delCAGGAAAAAG ENST00000335725.4 + 11 1539_1548 c.1289_1298delCAGGAAAAAG c.(1288-1299)ccfs p.PGKS430fs TDP1_ENST00000393454.2_Frame_Shift_Del_p.PGKS430fs|TDP1_ENST00000555880.1_Frame_Shift_Del_p.PGKS430fs|TDP1_ENST00000393452.3_Frame_Shift_Del_p.PGKS430fs|TDP1_ENST00000357382.3_Frame_Shift_Del_p.PGKS191fs NM_018319.3 NP_060789.2 Q9NUW8 TYDP1_HUMAN tyrosyl-DNA phosphodiesterase 1 430 cell death|double-strand break repair|single strand break repair cytoplasm|nucleus 3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1) 25 all_cancers(154;0.185) COAD - Colon adenocarcinoma(157;0.23) AGCAAGACTCCAGGAAAAAGCTCTGTTCCT 0.424 Repair of DNA-protein crosslinks 9 89 --- --- --- --- SNHG14 104472715 broad.mit.edu 37 15 25465467 25465469 + RNA DEL GAA GAA - TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr15:25465467_25465469delGAA ENST00000424208.1 + 0 3039 SNHG14_ENST00000453082.2_RNA NR_003305.1 TGGTGAGACCGAAGAAGACTTGC 0.581 11 9 --- --- --- --- FURIN 5045 broad.mit.edu 37 15 91425068 91425073 + In_Frame_Del DEL GCGAGA GCGAGA - TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr15:91425068_91425073delGCGAGA ENST00000268171.3 + 16 2624_2629 c.2345_2350delGCGAGA c.(2344-2352)ggg>g p.GER782del NM_002569.2 NP_002560.1 P09958 FURIN_HUMAN furin (paired basic amino acid cleaving enzyme) 782 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|Notch 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 cell surface|Golgi lumen|Golgi membrane|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 p.G782fs*>13(2) 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) GAGGGCCGGGGCGAGAGGACCGCCTT 0.597 8 68 --- --- --- --- ZSWIM4 65249 broad.mit.edu 37 19 13941261 13941261 + Frame_Shift_Del DEL C C - TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr19:13941261delC ENST00000254323.2 + 13 2556 c.2367delC c.(2365-2367)tafs p.Y789fs ZSWIM4_ENST00000440752.2_Frame_Shift_Del_p.Y623fs NM_023072.2 NP_075560.2 Q9H7M6 ZSWM4_HUMAN zinc finger, SWIM-type containing 4 789 zinc ion binding central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 27 OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19) AGGCGGCCTACCAGATCGTGC 0.692 39 77 --- --- --- --- SEPT3 55964 broad.mit.edu 37 22 42392949 42392949 + Frame_Shift_Del DEL C C - TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chr22:42392949delC ENST00000396426.3 + 11 1310 c.1055delC c.(1054-1056)acfs p.T352fs SEPT3_ENST00000328414.8_3'UTR|SEPT3_ENST00000406029.1_Frame_Shift_Del_p.T288fs|SEPT3_ENST00000396425.3_3'UTR NM_145733.2 NP_663786.2 Q9UH03 SEPT3_HUMAN septin 3 352 cell cycle|cytokinesis cell junction|septin complex GTP binding breast(1)|kidney(3)|large_intestine(5)|lung(6)|prostate(1)|skin(1) 17 GTGCCAGCCACCCCCTGCCCC 0.587 36 124 --- --- --- --- TXLNGY 246126 broad.mit.edu 37 Y 21758039 21758039 + RNA DEL A A - TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c6dcba5-1312-40ca-b589-07f7d88b3477 96a904cf-e50e-4320-8d23-2dd095845c5e g.chrY:21758039delA ENST00000253320.4 + 0 3120 Q9BZA5 CY15A_HUMAN haematopoietic_and_lymphoid_tissue(1) 1 TACTTCTTGGAAAAAAAAAAA 0.378 2 4 --- --- --- ---