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 SPATA7 55812 broad.mit.edu 37 14 88904536 88904536 + Missense_Mutation SNP C C T TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr14:88904536C>T ENST00000556553.1 + 12 2033 c.1474C>T c.(1474-1476)Cat>Tat p.H492Y SPATA7_ENST00000356583.5_Missense_Mutation_p.H492Y|SPATA7_ENST00000045347.7_Intron|SPATA7_ENST00000393545.4_Missense_Mutation_p.H524Y Q9P0W8 SPAT7_HUMAN spermatogenesis associated 7 524 response to stimulus|visual perception cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|ovary(1) 18 GGATGAAAATCATCCAAGTAT 0.333000 16 70 0 0 0.004990 0 0 GRIA2 2891 broad.mit.edu 37 4 158254053 158254053 + Missense_Mutation SNP C C T TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr4:158254053C>T ENST00000296526.7 + 7 1290 c.965C>T c.(964-966)tCc>tTc p.S322F GRIA2_ENST00000449365.1_Missense_Mutation_p.S275F|GRIA2_ENST00000507898.1_Missense_Mutation_p.S275F|GRIA2_ENST00000393815.2_Missense_Mutation_p.S275F|GRIA2_ENST00000264426.9_Missense_Mutation_p.S322F NM_000826.3 NP_000817.2 P42262 GRIA2_HUMAN glutamate receptor, ionotropic, AMPA 2 322 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.0294) L-Glutamic Acid(DB00142) ATTGAAATCTCCCGAAGGGGG 0.488000 39 45 0 0 0.006230 0 0 ZNF827 152485 broad.mit.edu 37 4 146823350 146823350 + Missense_Mutation SNP G G A TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr4:146823350G>A ENST00000508784.1 - 2 1288 c.1061C>T c.(1060-1062)cCt>cTt p.P354L ZNF827_ENST00000513320.1_Intron|ZNF827_ENST00000379448.4_Missense_Mutation_p.P354L Q17R98 ZN827_HUMAN zinc finger protein 827 354 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 all_hematologic(180;0.151) TCTTCCCTTAGGAACTGGGAG 0.448000 5 38 0 0 0.000602 0 0 PCDHGB3 56102 broad.mit.edu 37 5 140752003 140752003 + Missense_Mutation SNP C C T TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr5:140752003C>T ENST00000576222.1 + 1 2173 c.2042C>T c.(2041-2043)cCc>cTc p.P681L PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron NM_018924.2|NM_032097.1 NP_061747.1|NP_115268.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGCCCCACTCCCTCTGACCCT 0.567000 26 60 0 0 0.008361 0 0 DCAF8L1 139425 broad.mit.edu 37 X 27999214 27999214 + Missense_Mutation SNP C C T TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chrX:27999214C>T ENST00000441525.1 - 1 352 c.238G>A c.(238-240)Gaa>Aaa p.E80K NM_001017930.1 NP_001017930.1 A6NGE4 DC8L1_HUMAN DDB1 and CUL4 associated factor 8-like 1 80 Glu-rich. p.E80K(2) NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 56 CTTTCAAGTTCGACGTCTTCA 0.488000 31 79 0 0 0.002445 0 0 PTPRU 10076 broad.mit.edu 37 1 29647298 29647298 + Silent SNP C C T TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr1:29647298C>T ENST00000323874.8 + 27 3917 c.3807C>T c.(3805-3807)atC>atT p.I1269I PTPRU_ENST00000460170.2_Silent_p.I1269I|PTPRU_ENST00000428026.2_Silent_p.I1260I|PTPRU_ENST00000345512.3_Silent_p.I1273I|PTPRU_ENST00000373779.3_Silent_p.I1263I|PTPRU_ENST00000356870.3_Silent_p.I1269I Q92729 PTPRU_HUMAN protein tyrosine phosphatase, receptor type, U 1273 Tyrosine-protein phosphatase 2. canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway cell-cell junction|integral to plasma membrane beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 79 Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871) GCACCTCCATCGTCATGCTCA 0.637000 43 35 0 0 0.002852 0 0 FAT4 79633 broad.mit.edu 37 4 126373736 126373736 + Silent SNP G G A TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr4:126373736G>A ENST00000394329.3 + 9 11578 c.11565G>A c.(11563-11565)gcG>gcA p.A3855A FAT4_ENST00000335110.5_Silent_p.A2153A NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 3855 EGF-like 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 CAGGATATGCGGGTAGCTGGT 0.473000 5 44 0 0 0.001984 0 0 MYO3B 140469 broad.mit.edu 37 2 171323157 171323157 + Missense_Mutation SNP G G C TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr2:171323157G>C ENST00000334231.6 + 25 2977 c.2977G>C c.(2977-2979)Gag>Cag p.E993Q MYO3B_ENST00000408978.4_Missense_Mutation_p.E984Q|MYO3B_ENST00000602629.1_Intron|MYO3B_ENST00000409044.3_Missense_Mutation_p.E984Q Q8WXR4 MYO3B_HUMAN myosin IIIB 984 Myosin head-like. response to stimulus|visual perception cytoplasm|myosin complex actin binding|ATP binding|motor activity|protein serine/threonine kinase activity breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 59 AGGGATTCTGGAGACAGTCAG 0.537000 19 79 0 0 0.001523 0 0 MAP3K4 4216 broad.mit.edu 37 6 161518202 161518202 + Missense_Mutation SNP G G A TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr6:161518202G>A ENST00000392142.4 + 16 3666 c.3518G>A c.(3517-3519)gGa>gAa p.G1173E MAP3K4_ENST00000348824.7_Missense_Mutation_p.G1169E|MAP3K4_ENST00000366919.2_Missense_Mutation_p.G1173E|MAP3K4_ENST00000366920.2_Missense_Mutation_p.G1169E NM_005922.2 NP_005913.2 Q9Y6R4 M3K4_HUMAN mitogen-activated protein kinase kinase kinase 4 1173 activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity perinuclear region of cytoplasm ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1) 77 Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771) OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05) ACTCCAGAGGGATTCAGGTAT 0.488000 23 15 0 0 0.002299 0 0 CCR7 1236 broad.mit.edu 37 17 38711075 38711075 + Silent SNP G G T TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr17:38711075G>T ENST00000246657.2 - 3 1118 c.1056C>A c.(1054-1056)ctC>ctA p.L352L CCR7_ENST00000579344.1_Silent_p.L346L NM_001838.3 NP_001829.1 P32248 CCR7_HUMAN chemokine (C-C motif) receptor 7 352 cell maturation|immunological synapse formation|inflammatory response|interleukin-12 secretion|lymphocyte migration into lymph node|positive regulation of dendritic cell antigen processing and presentation|positive regulation of glycoprotein biosynthetic process|positive regulation of humoral immune response|positive regulation of hypersensitivity|positive regulation of interleukin-12 production|positive regulation of neutrophil chemotaxis|regulation of interferon-gamma production|regulation of interleukin-1 beta secretion|T cell costimulation integral to membrane|intracellular C-C chemokine receptor activity|chemokine (C-C motif) ligand 19 binding|chemokine (C-C motif) ligand 21 binding breast(1)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 Breast(137;0.000496) ACCACTGCCGGAGCTGCTCCT 0.607000 23 58 2.39556e-15 4.4516e-15 0.002780 1 0 ITGA11 22801 broad.mit.edu 37 15 68643096 68643096 + Missense_Mutation SNP C C T TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr15:68643096C>T ENST00000423218.2 - 9 1014 c.919G>A c.(919-921)Ggg>Agg p.G307R ITGA11_ENST00000315757.7_Missense_Mutation_p.G307R Q9UKX5 ITA11_HUMAN integrin, alpha 11 307 VWFA. cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development integrin complex collagen binding|receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 52 Tirofiban(DB00775) GGATTGATCCCCCTGCGGTTG 0.502000 28 53 0 0 0.008361 0 0 YEATS2 55689 broad.mit.edu 37 3 183471995 183471995 + Missense_Mutation SNP T T C TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr3:183471995T>C ENST00000305135.5 + 11 1427 c.1232T>C c.(1231-1233)aTg>aCg p.M411T NM_018023.4 NP_060493.3 Q9ULM3 YETS2_HUMAN YEATS domain containing 2 411 histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter Ada2/Gcn5/Ada3 transcription activator complex TBP-class protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3) 49 all_cancers(143;6.55e-10)|Ovarian(172;0.0303) all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) CCCACCAAAATGACTACATCC 0.438000 36 72 0 0 0.003271 0 0 CCDC13 152206 broad.mit.edu 37 3 42794129 42794129 + Missense_Mutation SNP A A T TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr3:42794129A>T ENST00000310232.6 - 4 534 c.451T>A c.(451-453)Tca>Aca p.S151T CCDC13_ENST00000435327.2_5'UTR NM_144719.3 NP_653320.3 Q8IYE1 CCD13_HUMAN coiled-coil domain containing 13 151 endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1) 25 GCACCCTCTGATTCTGCCATC 0.547000 25 68 0 0 0.004656 0 0 PLCB4 5332 broad.mit.edu 37 20 9453991 9453991 + Silent SNP C C T TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr20:9453991C>T ENST00000378501.2 + 34 3453 c.3438C>T c.(3436-3438)ttC>ttT p.F1146F PLCB4_ENST00000334005.3_Silent_p.F1146F|PLCB4_ENST00000278655.4_Silent_p.F1146F|PLCB4_ENST00000414679.2_Silent_p.F1158F|PLCB4_ENST00000378493.1_Silent_p.F1146F|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378473.3_Silent_p.F1158F NM_000933.3 NP_000924.3 Q15147 PLCB4_HUMAN phospholipase C, beta 4 1146 intracellular signal transduction|lipid catabolic process cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1) 87 ATCTAGAATTCCTAGAGAAAC 0.383000 27 12 0 0 0.001786 0 0 HS6ST1 9394 broad.mit.edu 37 2 129026419 129026419 + Nonsense_Mutation SNP G G A rs139541363 by1000genomes TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr2:129026419G>A ENST00000259241.6 - 2 566 c.553C>T c.(553-555)Cga>Tga p.R185* NM_004807.2 NP_004798.3 O60243 H6ST1_HUMAN heparan sulfate 6-O-sulfotransferase 1 185 3'-phosphate binding (Potential). heparan sulfate proteoglycan biosynthetic process, enzymatic modification integral to plasma membrane sulfotransferase activity p.R185*(2) endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1) 15 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.117) ACGGGGTCTCGTAGCAGGGTG 0.627000 5 46 0 0 0.003080 0 0 RAD9B 144715 broad.mit.edu 37 12 110960065 110960065 + Missense_Mutation SNP G G A TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr12:110960065G>A ENST00000409246.1 + 10 1083 c.758G>A c.(757-759)aGg>aAg p.R253K RAD9B_ENST00000409778.3_Missense_Mutation_p.R256K|RAD9B_ENST00000409425.1_Missense_Mutation_p.R253K|RAD9B_ENST00000409300.1_Missense_Mutation_p.R325K|RAD9B_ENST00000392672.4_Missense_Mutation_p.R325K Q6WBX8 RAD9B_HUMAN RAD9 homolog B (S. pombe) 322 cell cycle checkpoint|DNA repair|DNA replication nucleoplasm protein binding endometrium(1)|large_intestine(2)|lung(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 7 GCACCAAGAAGGCTTTATCCT 0.423000 8 9 0 0 0.003080 0 0 ITIH3 3699 broad.mit.edu 37 3 52835084 52835084 + Silent SNP C C T TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr3:52835084C>T ENST00000449956.2 + 11 1311 c.1305C>T c.(1303-1305)ttC>ttT p.F435F ITIH3_ENST00000416872.2_Silent_p.F435F NM_002217.3 NP_002208.3 Q06033 ITIH3_HUMAN inter-alpha-trypsin inhibitor heavy chain 3 435 VWFA. hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 25 BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496) ATTATAACTTCCTGGAGAACA 0.498000 30 48 0 0 0.008361 0 0 FAM111A 63901 broad.mit.edu 37 11 58919259 58919259 + Silent SNP C C T rs148380599 TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr11:58919259C>T ENST00000528737.1 + 5 2936 c.118C>T c.(118-120)Cta>Tta p.L40L FAM111A_ENST00000533703.1_Silent_p.L40L|FAM111A_ENST00000531147.1_Silent_p.L40L|FAM111A_ENST00000361723.3_Silent_p.L40L|FAM111A_ENST00000420244.1_Silent_p.L40L Q96PZ2 F111A_HUMAN family with sequence similarity 111, member A 40 proteolysis serine-type endopeptidase activity breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 22 all_epithelial(135;0.139) CAGTACTTCTCTAATGAGGAT 0.393000 28 77 0 0 0.001786 0 0 CYP4Z2P 163720 broad.mit.edu 37 1 47366031 47366031 + RNA SNP G G A TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr1:47366031G>A ENST00000505841.1 - 0 78 NR_002788.2 ACCTGAAACAGCAGCAGAGAC 0.557000 22 30 0 0 0.002780 0 0 HDAC9 9734 broad.mit.edu 37 7 18706067 18706067 + Missense_Mutation SNP G G A TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr7:18706067G>A ENST00000406451.3 + 12 1840 c.1690G>A c.(1690-1692)Gaa>Aaa p.E564K HDAC9_ENST00000417496.2_Missense_Mutation_p.E562K|HDAC9_ENST00000441542.2_Missense_Mutation_p.E567K|HDAC9_ENST00000428307.2_Missense_Mutation_p.E520K|HDAC9_ENST00000406072.1_Missense_Mutation_p.E551K|HDAC9_ENST00000432645.2_Missense_Mutation_p.E564K|HDAC9_ENST00000405010.3_Missense_Mutation_p.E564K|HDAC9_ENST00000401921.1_Missense_Mutation_p.E523K|HDAC9_ENST00000456174.2_Missense_Mutation_p.E536K|HDAC9_ENST00000524023.1_Missense_Mutation_p.E487K NM_178423.1|NM_178425.2 NP_848510.1|NP_848512.1 Q9UKV0 HDAC9_HUMAN histone deacetylase 9 564 B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 82 all_lung(11;0.187) Valproic Acid(DB00313) CCAGGAAATGGAATCTGGGGA 0.453000 OREG0017877 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 14 0 0 0.004482 0 0 CDK20 23552 broad.mit.edu 37 9 90586095 90586095 + Silent SNP G G A TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr9:90586095G>A ENST00000375883.3 - 3 651 c.345C>T c.(343-345)gtC>gtT p.V115V CDK20_ENST00000605159.1_Silent_p.V115V|CDK20_ENST00000336654.5_Silent_p.V128V|CDK20_ENST00000325303.8_Silent_p.V115V|CDK20_ENST00000375871.4_Silent_p.V115V NM_001170639.1|NM_012119.4|NM_178432.3 NP_001164110.1|NP_036251.2|NP_848519.1 Q8IZL9 CDK20_HUMAN cyclin-dependent kinase 20 115 Protein kinase. cell division|multicellular organismal development cilium|mitochondrion|nucleus ATP binding|cyclin-dependent protein kinase activity skin(1) 1 GGCAGAAGGCGACACCCTTGA 0.612000 30 11 0 0 0.002445 0 0 KIF13A 63971 broad.mit.edu 37 6 17764704 17764704 + Silent SNP G G A TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr6:17764704G>A ENST00000378814.5 - 37 4910 c.4911C>T c.(4909-4911)atC>atT p.I1637I KIF13A_ENST00000259711.6_Silent_p.I1685I|KIF13A_ENST00000378816.5_Silent_p.I1650I|KIF13A_ENST00000378843.2_Silent_p.I1637I|KIF13A_ENST00000378826.2_Silent_p.I1650I NM_001105568.2 NP_001099038.1 Q9H1H9 KI13A_HUMAN kinesin family member 13A 1685 cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane ATP binding|microtubule motor activity|protein binding breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 Breast(50;0.0107)|Ovarian(93;0.016) all_hematologic(90;0.125) all cancers(50;0.0865)|Epithelial(50;0.0974) TTTTCTCAGGGATGCTCTGGG 0.502000 20 50 0 0 0.001523 0 0 SV2A 9900 broad.mit.edu 37 1 149885219 149885219 + Silent SNP G G A TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr1:149885219G>A ENST00000369146.3 - 2 664 c.174C>T c.(172-174)ttC>ttT p.F58F SV2A_ENST00000369145.1_Silent_p.F58F NM_014849.3 NP_055664.3 Q7L0J3 SV2A_HUMAN synaptic vesicle glycoprotein 2A 58 neurotransmitter transport cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane transmembrane transporter activity breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2) 55 Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) Levetiracetam(DB01202) TGGGAGCAGGGAAGTCATCAT 0.547000 71 55 0 0 0.003610 0 0 CFTR 1080 broad.mit.edu 37 7 117171039 117171039 + Silent SNP G G A rs1800077 by1000genomes TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr7:117171039G>A ENST00000003084.6 + 4 492 c.360G>A c.(358-360)gcG>gcA p.A120A CFTR_ENST00000454343.1_Silent_p.A120A NM_000492.3 NP_000483.3 P13569 CFTR_HUMAN cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) 120 ABC transmembrane type-1 1. A -> T (in CF). respiratory gaseous exchange apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9) 69 Lung NSC(10;0.00148)|all_lung(10;0.00171) STAD - Stomach adenocarcinoma(10;0.000534) Bumetanide(DB00887)|Glibenclamide(DB01016) GCTCTATCGCGATTTATCTAG 0.458000 Cystic Fibrosis 16 30 0 0 0.006122 0 0 THRAP3 9967 broad.mit.edu 37 1 36755032 36755032 + Nonsense_Mutation SNP G G A TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr1:36755032G>A ENST00000354618.5 + 5 1636 c.1412G>A c.(1411-1413)tGg>tAg p.W471* THRAP3_ENST00000469141.2_Nonsense_Mutation_p.W471* NM_005119.3 NP_005110.2 Q9Y2W1 TR150_HUMAN thyroid hormone receptor associated protein 3 471 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1) 37 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) TCAGGCAAATGGGAGGGCCTG 0.463000 T USP6 aneurysmal bone cysts 27 78 0 0 0.005443 0 0 SLC51A 200931 broad.mit.edu 37 3 195959976 195959976 + Missense_Mutation SNP C C A TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr3:195959976C>A ENST00000296327.5 + 9 1138 c.929C>A c.(928-930)aCt>aAt p.T310N PCYT1A_ENST00000419333.1_Intron NM_152672.5 NP_689885.4 solute carrier family 51, alpha subunit TTTCTAATGACTGTGCTGACA 0.448000 46 89 7.88023e-25 1.48186e-24 0.003610 1 0 DMRT1 1761 broad.mit.edu 37 9 894120 894120 + Silent SNP G G A TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr9:894120G>A ENST00000382276.3 + 3 896 c.747G>A c.(745-747)ggG>ggA p.G249G DMRT1_ENST00000569227.1_Silent_p.G91G NM_021951.2 NP_068770.2 Q9Y5R6 DMRT1_HUMAN doublesex and mab-3 related transcription factor 1 249 cell differentiation|male gonad development|sex determination nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity large_intestine(2)|lung(10)|ovary(1) 13 all_lung(10;2.66e-10)|Lung NSC(10;2.82e-10)|Breast(48;0.232) Lung(218;0.037) ATCCCCTCGGGGGATCCCCTG 0.532000 OREG0019071 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 46 21 0 0 0.003610 0 0 RP9 6100 broad.mit.edu 37 7 33140157 33140157 + Missense_Mutation SNP G G A TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr7:33140157G>A ENST00000297157.3 - 2 186 c.169C>T c.(169-171)Cct>Tct p.P57S NM_203288.1 NP_976033.1 Q8TA86 RP9_HUMAN retinitis pigmentosa 9 (autosomal dominant) 57 PIM1-binding (By similarity). RNA splicing nucleus nucleic acid binding|protein binding|zinc ion binding large_intestine(3)|lung(3)|urinary_tract(1) 7 GBM - Glioblastoma multiforme(11;0.0403) ATAAGCCCAGGAGGAGGTTTT 0.343000 6 39 0 0 0.001168 0 0 PRB3 5544 broad.mit.edu 37 12 11420585 11420585 + RNA SNP G G A rs71057716 TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr12:11420585G>A ENST00000381842.3 - 0 635 PRB3_ENST00000538488.1_RNA|PRB3_ENST00000440870.3_RNA|PRB3_ENST00000279573.6_RNA NM_006249.4 NP_006240.4 Q04118 PRB3_HUMAN proline-rich protein BstNI subfamily 3 extracellular region Gram-negative bacterial cell surface binding p.R200C(1)|p.R179C(1) breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5) 25 OV - Ovarian serous cystadenocarcinoma(49;0.201) TTTCCCGGACGAGGTGGGGGA 0.637000 47 275 0 0 0.003610 0 0 COL25A1 84570 broad.mit.edu 37 4 109784498 109784498 + Missense_Mutation SNP C C T TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr4:109784498C>T ENST00000399132.1 - 21 1659 c.1129G>A c.(1129-1131)Gaa>Aaa p.E377K COL25A1_ENST00000399126.1_Missense_Mutation_p.E377K|COL25A1_ENST00000399127.1_Missense_Mutation_p.E373K NM_198721.2 NP_942014.1 Q9BXS0 COPA1_HUMAN collagen, type XXV, alpha 1 377 Collagen-like 5. collagen|extracellular space beta-amyloid binding|heparin binding NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 49 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000173) GCTCCAGGTTCCCCTCGCTCA 0.488000 23 19 0 0 0.005443 0 0 PSD3 23362 broad.mit.edu 37 8 18729960 18729960 + Silent SNP C C T TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr8:18729960C>T ENST00000440756.2 - 3 516 c.414G>A c.(412-414)ctG>ctA p.L138L PSD3_ENST00000327040.8_Silent_p.L138L|PSD3_ENST00000523619.1_Silent_p.L73L Q9NYI0 PSD3_HUMAN pleckstrin and Sec7 domain containing 3 138 regulation of ARF protein signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane ARF guanyl-nucleotide exchange factor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183) CTGTGGCTTTCAGAGCTGAAA 0.438000 59 102 0 0 0.003610 0 0 RORA 6095 broad.mit.edu 37 15 60907219 60907219 + Missense_Mutation SNP T T C TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr15:60907219T>C ENST00000309157.4 - 2 214 c.145A>G c.(145-147)Acc>Gcc p.T49A RORA_ENST00000261523.5_Intron|RORA_ENST00000335670.6_Intron|RORA_ENST00000560004.1_Intron|RP11-219B17.1_ENST00000558235.1_RNA|RP11-219B17.1_ENST00000559824.1_RNA NM_002943.3 NP_002934.1 P35398 RORA_HUMAN RAR-related orphan receptor A 49 Modulating. positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 21 GAGCTACAGGTTGAAGAGCTG 0.507000 17 36 0 0 0.001523 0 0 TET2 54790 broad.mit.edu 37 4 106157388 106157388 + Silent SNP C C T TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr4:106157388C>T ENST00000513237.1 + 3 3149 c.2352C>T c.(2350-2352)ccC>ccT p.P784P TET2_ENST00000380013.4_Silent_p.P763P|TET2_ENST00000305737.2_Silent_p.P763P|TET2_ENST00000545826.1_Silent_p.P763P|TET2_ENST00000394764.1_Silent_p.P763P|TET2_ENST00000540549.1_Silent_p.P763P|TET2_ENST00000413648.2_Silent_p.P763P Q6N021 TET2_HUMAN tet methylcytosine dioxygenase 2 763 Gln-rich. cell cycle|myeloid cell differentiation metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 1314 Myeloproliferative disorder(5;0.0393) OV - Ovarian serous cystadenocarcinoma(123;7.18e-08) TTCCTCACCCCCAAAGCAACA 0.393000 """Mis N, F""" MDS 13 24 0 0 0.001368 0 0 MUC16 94025 broad.mit.edu 37 19 9090527 9090527 + Missense_Mutation SNP C C T TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr19:9090527C>T ENST00000397910.4 - 1 1491 c.1288G>A c.(1288-1290)Gaa>Aaa p.E430K NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 430 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 AAAGTTCCTTCTGTTTCCTTT 0.498000 39 67 0 0 0.005524 0 0 CAPS2 84698 broad.mit.edu 37 12 75685567 75685567 + Silent SNP G G A TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr12:75685567G>A ENST00000393284.3 - 13 1159 c.558C>T c.(556-558)atC>atT p.I186I RP11-560G2.1_ENST00000549953.1_RNA|CAPS2_ENST00000409799.1_Silent_p.I336I|CAPS2_ENST00000409004.1_5'UTR|CAPS2_ENST00000409445.3_Silent_p.I418I|CAPS2_ENST00000442339.2_Silent_p.I8I Q9BXY5 CAYP2_HUMAN calcyphosine 2 418 D -> G (in Ref. 4; AAN76511). calcium ion binding endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1) 10 TTTCTTGAATGATTATATCAT 0.313000 22 21 0 0 0.006320 0 0 FAM227B 196951 broad.mit.edu 37 15 49800546 49800546 + Splice_Site SNP C C T TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr15:49800546C>T ENST00000299338.6 - 11 1178 c.e11-1 FAM227B_ENST00000561064.1_Splice_Site NM_152647.2 NP_689860.2 family with sequence similarity 227, member B GGTTTTAAACCTGTTAATATA 0.299000 15 43 0 0 0.003163 0 0 SPNS3 201305 broad.mit.edu 37 17 4356416 4356416 + Silent SNP C C T TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr17:4356416C>T ENST00000355530.2 + 8 1309 c.1029C>T c.(1027-1029)ctC>ctT p.L343L SPNS3_ENST00000576069.1_3'UTR|SPNS3_ENST00000333476.2_Silent_p.L216L NM_182538.4 NP_872344.3 Q6ZMD2 SPNS3_HUMAN spinster homolog 3 (Drosophila) 343 lipid transport|transmembrane transport integral to membrane NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2) 28 CTGAGCCCCTCATCTGCGCCT 0.607000 47 95 0 0 0.003610 0 0 SLC6A18 348932 broad.mit.edu 37 5 1243736 1243736 + Missense_Mutation SNP C C T TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr5:1243736C>T ENST00000324642.3 + 9 1321 c.1198C>T c.(1198-1200)Cct>Tct p.P400S SLC6A18_ENST00000296821.4_Missense_Mutation_p.P329S NM_182632.2 NP_872438.2 Q96N87 S6A18_HUMAN solute carrier family 6 (neutral amino acid transporter), member 18 400 cellular nitrogen compound metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1) 34 all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10) Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) GCCGGGGGCTCCTGTGTGGGC 0.662000 30 49 0 0 0.001786 0 0 AKNAD1 254268 broad.mit.edu 37 1 109380200 109380200 + Missense_Mutation SNP G G A TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr1:109380200G>A ENST00000370001.3 - 7 1776 c.1508C>T c.(1507-1509)gCc>gTc p.A503V AKNAD1_ENST00000369995.3_Missense_Mutation_p.A503V|AKNAD1_ENST00000357393.4_Missense_Mutation_p.A210V|AKNAD1_ENST00000369994.1_Missense_Mutation_p.A503V NM_152763.4 NP_689976.2 Q5T1N1 AKND1_HUMAN AKNA domain containing 1 503 breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2) 32 GAAGGTGGAGGCCAAGTCATC 0.403000 30 56 0 0 0.005524 0 0 BCOR 54880 broad.mit.edu 37 X 39923689 39923689 + Silent SNP C C T TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chrX:39923689C>T ENST00000342274.4 - 7 3764 c.3402G>A c.(3400-3402)agG>agA p.R1134R BCOR_ENST00000378444.4_Silent_p.R1134R|BCOR_ENST00000378463.1_Silent_p.R11R|BCOR_ENST00000397354.3_Silent_p.R1134R|BCOR_ENST00000378455.4_Silent_p.R1116R NM_001123383.1 NP_001116855.1 Q6W2J9 BCOR_HUMAN BCL6 corepressor 1134 heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent nucleus heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 126 CTTTGCGTTTCCTGTCCACCC 0.612000 """F, N, S, T""" RARA """retinoblastoma, AML, APL(translocation)""" oculo-facio-cardio-dental genetic 10 37 0 0 0.008291 0 0 ZGLP1 100125288 broad.mit.edu 37 19 10418986 10418986 + Silent SNP C C T TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr19:10418986C>T ENST00000403903.3 - 1 1570 c.372G>A c.(370-372)caG>caA p.Q124Q ZGLP1_ENST00000403352.1_Silent_p.Q40Q|CTD-2369P2.10_ENST00000452032.2_3'UTR|FDX1L_ENST00000541276.1_3'UTR NM_001103167.1 NP_001096637.1 P0C6A0 ZGLP1_HUMAN zinc finger, GATA-like protein 1 124 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|ovary(1) 6 GGGGCCTTCTCTGGGGTGGGG 0.652000 6 19 0 0 0.001168 0 0 ACTL6B 51412 broad.mit.edu 37 7 100252710 100252710 + Missense_Mutation SNP C C T TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr7:100252710C>T ENST00000160382.5 - 4 407 c.301G>A c.(301-303)Gat>Aat p.D101N NM_016188.4 NP_057272.1 O94805 ACL6B_HUMAN actin-like 6B 101 chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nBAF complex|SWI/SNF complex ATP binding|protein binding|structural constituent of cytoskeleton endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1) 13 Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817) TAGGTGTGATCCAGGATGGCT 0.597000 18 37 0 0 0.007413 0 0 SAMD9 54809 broad.mit.edu 37 7 92732795 92732795 + Silent SNP G G A rs147774813 TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr7:92732795G>A ENST00000379958.2 - 3 2885 c.2616C>T c.(2614-2616)atC>atT p.I872I NM_001193307.1|NM_017654.3 NP_001180236.1|NP_060124.2 Q5K651 SAMD9_HUMAN sterile alpha motif domain containing 9 872 cytoplasm NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125) STAD - Stomach adenocarcinoma(171;0.000302) GCTGTTCTTTGATTTCTTTCA 0.333000 20 43 0 0 0.007413 0 0 ZNF407 55628 broad.mit.edu 37 18 72343420 72343420 + Missense_Mutation SNP A A T TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr18:72343420A>T ENST00000299687.5 + 1 445 c.445A>T c.(445-447)Act>Tct p.T149S ZNF407_ENST00000582337.1_Missense_Mutation_p.T149S|ZNF407_ENST00000309902.6_Missense_Mutation_p.T149S|ZNF407_ENST00000577538.1_Missense_Mutation_p.T149S NM_017757.2 NP_060227.2 Q9C0G0 ZN407_HUMAN zinc finger protein 407 149 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2) 67 Esophageal squamous(42;0.131)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.184) GAAAACAGACACTGAAAAAAC 0.428000 10 30 0 0 0.008291 0 0 S100A7L2 645922 broad.mit.edu 37 1 153410701 153410701 + Silent SNP C C T TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr1:153410701C>T ENST00000368725.2 - 2 137 c.138G>A c.(136-138)ttG>ttA p.L46L NM_001045479.1 NP_001038944.2 S100 calcium binding protein A7-like 2 NS(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1) 8 all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.171) TCTCCTTCATCAAGTTCACCA 0.512000 17 54 0 0 0.006122 0 0 DMBX1 127343 broad.mit.edu 37 1 46977741 46977741 + Missense_Mutation SNP C C T TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr1:46977741C>T ENST00000371956.4 + 4 739 c.724C>T c.(724-726)Cct>Tct p.P242S DMBX1_ENST00000360032.3_Missense_Mutation_p.P237S NM_147192.2 NP_671725.1 Q8NFW5 DMBX1_HUMAN diencephalon/mesencephalon homeobox 1 242 brain development|developmental growth|negative regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Acute lymphoblastic leukemia(166;0.155) GACCATCACTCCTGTGGCCCC 0.627000 29 176 0 0 0.001786 0 0 PHLPP2 23035 broad.mit.edu 37 16 71686892 71686892 + Missense_Mutation SNP G G A TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr16:71686892G>A ENST00000393524.2 - 16 3150 c.2417C>T c.(2416-2418)tCc>tTc p.S806F PHLPP2_ENST00000568954.1_Missense_Mutation_p.S873F|PHLPP2_ENST00000567016.1_Missense_Mutation_p.S908F|PHLPP2_ENST00000356272.3_Missense_Mutation_p.S873F|PHLPP2_ENST00000540628.1_Missense_Mutation_p.S83F|PHLPP2_ENST00000360429.3_Missense_Mutation_p.S873F Q6ZVD8 PHLP2_HUMAN PH domain and leucine rich repeat protein phosphatase 2 873 PP2C-like. cytoplasm|membrane|nucleus metal ion binding|phosphoprotein phosphatase activity central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1) 37 GAGAGCGGAGGAGCCCAACTT 0.517000 22 24 0 0 0.003954 0 0 COL6A3 1293 broad.mit.edu 37 2 238270418 238270418 + Silent SNP C C T TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr2:238270418C>T ENST00000295550.4 - 15 6572 c.6120G>A c.(6118-6120)agG>agA p.R2040R COL6A3_ENST00000409809.1_Silent_p.R1834R|COL6A3_ENST00000353578.4_Silent_p.R1834R|COL6A3_ENST00000347401.3_Silent_p.R1839R|COL6A3_ENST00000472056.1_Silent_p.R1433R|COL6A3_ENST00000346358.4_Silent_p.R1840R NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 2040 Collagen-like 1.|Triple-helical region. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) CGCGGTCTCCCCTCTGCCCAG 0.552000 24 54 0 0 0.003330 0 0 LRRC40 55631 broad.mit.edu 37 1 70652993 70652993 + Missense_Mutation SNP G G A TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr1:70652993G>A ENST00000370952.3 - 3 441 c.362C>T c.(361-363)cCt>cTt p.P121L NM_017768.4 NP_060238.3 Q9H9A6 LRC40_HUMAN leucine rich repeat containing 40 121 breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(2) 27 TATAGCAGAAGGAAGGGATGT 0.274000 29 57 0 0 0.002836 0 0 IRF4 3662 broad.mit.edu 37 6 401457 401457 + Missense_Mutation SNP A A C TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr6:401457A>C ENST00000380956.4 + 7 905 c.779A>C c.(778-780)gAa>gCa p.E260A NM_001195286.1|NM_002460.3 NP_001182215.1|NP_002451.2 Q15306 IRF4_HUMAN interferon regulatory factor 4 260 interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway cytoplasm DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2) 5 Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895) OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702) TACTACCGGGAAATCCTCGTG 0.622000 T IGH@ MM 17 47 0 0 0.001523 0 0 POF1B 79983 broad.mit.edu 37 X 84634308 84634308 + Missense_Mutation SNP C C T TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chrX:84634308C>T ENST00000262753.4 - 2 297 c.152G>A c.(151-153)cGa>cAa p.R51Q POF1B_ENST00000373145.3_Missense_Mutation_p.R51Q NM_024921.3 NP_079197.3 Q8WVV4 POF1B_HUMAN premature ovarian failure, 1B 51 actin binding central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1) 35 GGTCCTCACTCGCTCATACAC 0.567000 17 23 0 0 0.006122 0 0 THOC2 57187 broad.mit.edu 37 X 122754817 122754817 + Splice_Site SNP C C T TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chrX:122754817C>T ENST00000245838.8 - 32 4248 c.e32-1 THOC2_ENST00000491737.1_Splice_Site|THOC2_ENST00000355725.4_Splice_Site NM_001081550.1 NP_001075019.1 Q8NI27 THOC2_HUMAN THO complex 2 intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing THO complex part of transcription export complex protein binding|RNA binding breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3) 63 CGTTTTTGTTCTGTTAAGACA 0.388000 53 130 0 0 0.003610 0 0 RYR2 6262 broad.mit.edu 37 1 237948051 237948051 + Missense_Mutation SNP G G A TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr1:237948051G>A ENST00000366574.2 + 90 13356 c.13039G>A c.(13039-13041)Gag>Aag p.E4347K RYR2_ENST00000542537.1_Missense_Mutation_p.E4331K|RYR2_ENST00000360064.6_Missense_Mutation_p.E4353K NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 4347 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) AGGAGATGGGGAGGAGGGAGA 0.542000 52 49 0 0 0.003610 0 0 SPATA17 128153 broad.mit.edu 37 1 217947741 217947741 + Silent SNP G G A TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr1:217947741G>A ENST00000366933.4 + 7 640 c.585G>A c.(583-585)aaG>aaA p.K195K NM_138796.2 NP_620151.1 Q96L03 SPT17_HUMAN spermatogenesis associated 17 195 cytoplasm calmodulin binding endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117) AATTACAGAAGGCAAAGCCTT 0.423000 38 111 0 0 0.002522 0 0 OR2T10 127069 broad.mit.edu 37 1 248756222 248756222 + Missense_Mutation SNP G G A TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr1:248756222G>A ENST00000330500.2 - 1 878 c.848C>T c.(847-849)cCt>cTt p.P283L NM_001004693.1 NP_001004693.1 Q8NGZ9 O2T10_HUMAN olfactory receptor, family 2, subfamily T, member 10 283 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.P283L(1) breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1) 26 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) ATTCAAGACAGGTGTAAGGAT 0.398000 24 52 0 0 0.002299 0 0 LMOD3 56203 broad.mit.edu 37 3 69169211 69169211 + Splice_Site SNP C C T TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr3:69169211C>T ENST00000420581.2 - 2 474 c.294_splice c.e2-1 p.E99_splice LMOD3_ENST00000489031.1_Splice_Site_p.E99_splice|LMOD3_ENST00000475434.1_Splice_Site_p.E99_splice NM_198271.3 NP_938012.2 Q0VAK6 LMOD3_HUMAN leiomodin 3 (fetal) 99 Glu-rich. cytoplasm|cytoskeleton tropomyosin binding breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1) 13 Lung NSC(201;0.0193)|Prostate(884;0.174) BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24) TGAGTCTTTTCCTACAAGAGA 0.313000 11 30 0 0 0.001855 0 0 OPN3 23596 broad.mit.edu 37 1 241761296 241761296 + Missense_Mutation SNP G G A TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr1:241761296G>A ENST00000366554.2 - 3 803 c.697C>T c.(697-699)Cgt>Tgt p.R233C OPN3_ENST00000331838.5_Missense_Mutation_p.R154C|OPN3_ENST00000469376.1_5'UTR NM_014322.2 NP_055137.2 Q9H1Y3 OPN3_HUMAN opsin 3 233 phototransduction|protein-chromophore linkage|regulation of circadian rhythm|visual perception integral to plasma membrane G-protein coupled photoreceptor activity endometrium(1)|large_intestine(5)|lung(5) 11 Ovarian(103;0.103)|all_lung(81;0.23) all_cancers(173;0.0231) OV - Ovarian serous cystadenocarcinoma(106;0.0125) TCCACACAACGAAGCTGCAGA 0.353000 6 22 0 0 0.001168 0 0 SMC1B 27127 broad.mit.edu 37 22 45789546 45789546 + Missense_Mutation SNP C C T TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr22:45789546C>T ENST00000357450.4 - 9 1512 c.1513G>A c.(1513-1515)Gaa>Aaa p.E505K SMC1B_ENST00000404354.3_Missense_Mutation_p.E505K NM_148674.3 NP_683515.3 Q8NDV3 SMC1B_HUMAN structural maintenance of chromosomes 1B 505 Flexible hinge. chromosome organization|meiosis chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus ATP binding breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 37 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0182) TTAAGGTGTTCCAGAACCTCT 0.348000 37 42 0 0 0.002222 0 0 GPR98 84059 broad.mit.edu 37 5 89953923 89953923 + Missense_Mutation SNP T T C TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr5:89953923T>C ENST00000405460.2 + 21 4676 c.4580T>C c.(4579-4581)aTt>aCt p.I1527T NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 1527 Calx-beta 10. cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TCATTCATTATTTCTGCAAGA 0.363000 40 89 0 0 0.007835 0 0 ADAM18 8749 broad.mit.edu 37 8 39535031 39535031 + Missense_Mutation SNP C C T TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr8:39535031C>T ENST00000265707.5 + 15 1652 c.1607C>T c.(1606-1608)tCa>tTa p.S536L ADAM18_ENST00000541111.1_5'UTR|ADAM18_ENST00000379866.1_Missense_Mutation_p.S512L NM_014237.2 NP_055052.1 Q9Y3Q7 ADA18_HUMAN ADAM metallopeptidase domain 18 536 Cys-rich. cell differentiation|multicellular organismal development|proteolysis|spermatogenesis integral to membrane|membrane fraction metalloendopeptidase activity|zinc ion binding p.S536L(1) NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3) 71 all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112) LUSC - Lung squamous cell carcinoma(45;0.000199) TTTAAAAATTCACAACCATTA 0.318000 12 23 0 0 0.000978 0 0 SH3PXD2B 285590 broad.mit.edu 37 5 171765958 171765958 + Silent SNP A A G TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr5:171765958A>G ENST00000311601.5 - 13 2321 c.2151T>C c.(2149-2151)gaT>gaC p.D717D SH3PXD2B_ENST00000519643.1_Intron NM_001017995.2 NP_001017995.1 A1X283 SPD2B_HUMAN SH3 and PX domains 2B 717 adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly cell junction|cell projection|cytoplasm|podosome phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 36 Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175) Medulloblastoma(196;0.0207)|all_neural(177;0.0625) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) GGCTGAGACCATCCTGTTTGC 0.637000 21 42 0 0 0.001523 0 0 PLGLA 285189 broad.mit.edu 37 2 107007391 107007391 + RNA SNP G G A TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr2:107007391G>A ENST00000484422.1 + 0 240 GACTGGGAATGGAAAGAACTA 0.463000 15 15 0 0 0.001882 0 0 MAP1A 4130 broad.mit.edu 37 15 43815653 43815653 + Missense_Mutation SNP T T C TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr15:43815653T>C ENST00000382031.1 + 5 2727 c.2696T>C c.(2695-2697)aTg>aCg p.M899T MAP1A_ENST00000399453.1_Missense_Mutation_p.M661T|MAP1A_ENST00000300231.5_Missense_Mutation_p.M661T P78559 MAP1A_HUMAN microtubule-associated protein 1A 661 cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 66 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.05e-06) Estramustine(DB01196) TTAGAAGAAATGGAGGAGGTA 0.478000 7 12 0 0 0.003080 0 0 ENGASE 64772 broad.mit.edu 37 17 77078262 77078262 + Silent SNP C C T TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr17:77078262C>T ENST00000539857.2 + 6 1012 c.597C>T c.(595-597)tcC>tcT p.S199S ENGASE_ENST00000584568.1_Intron|ENGASE_ENST00000579016.1_Intron Q8NFI3 ENASE_HUMAN endo-beta-N-acetylglucosaminidase 0 cytosol mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1) 25 GCTGTTCTTCCCAGAGTGGGG 0.572000 3 9 0 0 0.004672 0 0 KIAA1033 23325 broad.mit.edu 37 12 105538630 105538630 + Missense_Mutation SNP C C T TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr12:105538630C>T ENST00000332180.5 + 22 2401 c.2314C>T c.(2314-2316)Ccc>Tcc p.P772S NM_015275.1 NP_056090.1 Q2M389 WAHS7_HUMAN KIAA1033 772 endosome transport WASH complex breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 41 GGCACATCTTCCCAGTCAGAC 0.383000 20 63 0 0 0.002780 0 0 MARK1 4139 broad.mit.edu 37 1 220805570 220805570 + Missense_Mutation SNP G G A TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr1:220805570G>A ENST00000402574.1 + 11 1634 c.632G>A c.(631-633)cGa>cAa p.R211Q MARK1_ENST00000366918.4_Missense_Mutation_p.R324Q|MARK1_ENST00000366917.4_Missense_Mutation_p.R346Q NM_018650.3 NP_061120.3 Q9P0L2 MARK1_HUMAN MAP/microtubule affinity-regulating kinase 1 346 Protein kinase. intracellular protein kinase cascade cytoplasm|microtubule cytoskeleton ATP binding|magnesium ion binding|protein serine/threonine kinase activity central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1) 63 GBM - Glioblastoma multiforme(131;0.0407) GGCTTTGCACGAGATGAAATA 0.313000 159 141 0 0 0.003610 0 0 TNIK 23043 broad.mit.edu 37 3 170819380 170819380 + Missense_Mutation SNP C C T TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr3:170819380C>T ENST00000436636.2 - 22 2793 c.2449G>A c.(2449-2451)Gaa>Aaa p.E817K TNIK_ENST00000538048.1_Missense_Mutation_p.E769K|TNIK_ENST00000475336.1_Missense_Mutation_p.E725K|TNIK_ENST00000470834.1_Missense_Mutation_p.E780K|TNIK_ENST00000488470.1_Missense_Mutation_p.E762K|TNIK_ENST00000460047.1_Missense_Mutation_p.E754K|TNIK_ENST00000369326.5_Missense_Mutation_p.E795K|TNIK_ENST00000357327.5_Missense_Mutation_p.E788K|TNIK_ENST00000341852.6_Missense_Mutation_p.E733K|TNIK_ENST00000284483.8_Missense_Mutation_p.E809K NM_015028.2 NP_055843.1 Q9UKE5 TNIK_HUMAN TRAF2 and NCK interacting kinase 817 Mediates interaction with NEDD4. actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway cytoskeleton|nucleus|recycling endosome ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2) 62 all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) TTTGTTTCTTCAATCCGGAGT 0.453000 57 79 0 0 0.003610 0 0 KLHDC9 126823 broad.mit.edu 37 1 161068775 161068775 + Silent SNP G G A TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr1:161068775G>A ENST00000392192.2 + 1 592 c.450G>A c.(448-450)cgG>cgA p.R150R KLHDC9_ENST00000490724.2_3'UTR|KLHDC9_ENST00000368011.4_Silent_p.R150R NM_001007255.2 NP_001007256.1 Q8NEP7 KLDC9_HUMAN kelch domain containing 9 150 lung(5)|upper_aerodigestive_tract(1) 6 all_cancers(52;1.28e-19)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00165) TGGCTGGCCGGGAGGGCGGTA 0.647000 9 10 0 0 0.004482 0 0 FAM83H 286077 broad.mit.edu 37 8 144812692 144812692 + Missense_Mutation SNP G G C TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr8:144812692G>C ENST00000388913.3 - 2 186 c.61C>G c.(61-63)Ccg>Gcg p.P21A NM_198488.3 NP_940890.3 Q6ZRV2 FA83H_HUMAN family with sequence similarity 83, member H 21 biomineral tissue development central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1) 21 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) TAGTGAGGCGGCAGGTACCCG 0.677000 12 19 0 0 0.001855 0 0 HS6ST1 9394 broad.mit.edu 37 2 129026412 129026412 + Missense_Mutation SNP G G C TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr2:129026412G>C ENST00000259241.6 - 2 573 c.560C>G c.(559-561)cCc>cGc p.P187R NM_004807.2 NP_004798.3 O60243 H6ST1_HUMAN heparan sulfate 6-O-sulfotransferase 1 187 3'-phosphate binding (Potential). heparan sulfate proteoglycan biosynthetic process, enzymatic modification integral to plasma membrane sulfotransferase activity endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1) 15 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.117) GCGGGACACGGGGTCTCGTAG 0.632000 5 48 0 0 0.004482 0 0 KIF13B 23303 broad.mit.edu 37 8 28956730 28956730 + Missense_Mutation SNP G G T TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr8:28956730G>T ENST00000524189.1 - 36 4282 c.4244C>A c.(4243-4245)tCc>tAc p.S1415Y NM_015254.3 NP_056069.2 Q9NQT8 KI13B_HUMAN kinesin family member 13B 1415 microtubule-based movement|protein targeting|signal transduction|T cell activation cytoplasm|microtubule ATP binding|microtubule motor activity|protein kinase binding endometrium(6)|kidney(1)|lung(20)|urinary_tract(1) 28 Ovarian(32;0.000536) KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181) TGTGGTTTGGGATACATCCTG 0.408000 74 124 1.45978e-39 2.75607e-39 0.003610 1 0 TP53BP2 7159 broad.mit.edu 37 1 223987611 223987611 + Missense_Mutation SNP C C T TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr1:223987611C>T ENST00000391878.2 - 12 1856 c.1088G>A c.(1087-1089)cGg>cAg p.R363Q TP53BP2_ENST00000498843.1_5'UTR|TP53BP2_ENST00000391879.2_5'UTR|TP53BP2_ENST00000343537.7_Missense_Mutation_p.R492Q NM_005426.2 NP_005417.1 Q13625 ASPP2_HUMAN tumor protein p53 binding protein, 2 486 apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction nucleus|perinuclear region of cytoplasm NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2) 29 GBM - Glioblastoma multiforme(131;0.0958) CTGAGCATCCCGCAAGATATC 0.413000 29 32 0 0 0.006320 0 0 FAM86C1 55199 broad.mit.edu 37 11 71507232 71507232 + Missense_Mutation SNP C C G rs113587125 by1000genomes TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr11:71507232C>G ENST00000528685.1 + 3 329 c.329C>G c.(328-330)cCg>cGg p.P110R FAM86C1_ENST00000359244.4_Intron|FAM86C1_ENST00000426628.2_Intron|FAM86C1_ENST00000346333.6_Intron Q9NVL1 FA86C_HUMAN family with sequence similarity 86, member C1 0 lung(1) 1 CACGCCCACCCGGGCCTGCAT 0.612000 4 110 0 0 0.000248 0 0 IGSF21 84966 broad.mit.edu 37 1 18661458 18661458 + Silent SNP G G A TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr1:18661458G>A ENST00000251296.1 + 4 761 c.378G>A c.(376-378)agG>agA p.R126R NM_032880.4 NP_116269.3 Q96ID5 IGS21_HUMAN immunoglobin superfamily, member 21 126 Ig-like 1. extracellular region endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 40 Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157) GCGCCACCAGGGAGAAGGTGG 0.612000 14 36 0 0 0.002450 0 0 MUC16 94025 broad.mit.edu 37 19 9089201 9089201 + Missense_Mutation SNP G G A TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr19:9089201G>A ENST00000397910.4 - 1 2817 c.2614C>T c.(2614-2616)Cca>Tca p.P872S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 872 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GACACAGATGGATTCGAAGTT 0.493000 11 31 0 0 0.008291 0 0 TAF6 6878 broad.mit.edu 37 7 99711836 99711836 + Silent SNP G G A TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr7:99711836G>A ENST00000472509.1 - 1 345 c.168C>T c.(166-168)tcC>tcT p.S56S TAF6_ENST00000418432.2_5'UTR|TAF6_ENST00000437822.2_Silent_p.S36S|TAF6_ENST00000344095.4_5'UTR|TAF6_ENST00000453269.2_5'UTR|TAF6_ENST00000452041.1_5'UTR P49848 TAF6_HUMAN TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa 0 negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2) 26 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) CAGCCATTCTGGAGTCCCTCT 0.572000 26 49 0 0 0.006320 0 0 CDKN2A 1029 broad.mit.edu 37 9 21971208 21971208 + Translation_Start_Site SNP C C A TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr9:21971208C>A ENST00000578845.2 - 0 123 CDKN2A_ENST00000479692.2_Splice_Site|CDKN2A_ENST00000579122.1_Splice_Site|CDKN2A_ENST00000579755.1_Splice_Site|CDKN2A_ENST00000498628.2_Splice_Site|CDKN2A_ENST00000497750.1_Splice_Site|CDKN2A_ENST00000494262.1_Splice_Site|CDKN2A_ENST00000304494.5_Splice_Site|CDKN2A_ENST00000361570.3_Splice_Site|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000530628.2_Splice_Site|CDKN2A_ENST00000446177.1_Splice_Site|CDKN2A_ENST00000498124.1_Splice_Site P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding p.0?(1315)|p.?(38)|p.0(1)|p.V28_V51del(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) TCATCATGACCTGCCAGAGAG 0.667000 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 25 22 1.12875e-08 2.08114e-08 0.006320 1 0 TEP1 7011 broad.mit.edu 37 14 20853250 20853250 + Missense_Mutation SNP C C T TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr14:20853250C>T ENST00000262715.5 - 21 3041 c.3001G>A c.(3001-3003)Ggg>Agg p.G1001R TEP1_ENST00000556935.1_Missense_Mutation_p.G893R NM_007110.4 NP_009041.2 Q99973 TEP1_HUMAN telomerase-associated protein 1 1001 telomere maintenance via recombination chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex ATP binding|RNA binding NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 96 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233) ACAGAGCGCCCTGAAGGGTAC 0.592000 19 52 0 0 0.001523 0 0 SMG5 23381 broad.mit.edu 37 1 156233338 156233338 + Missense_Mutation SNP C C T TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr1:156233338C>T ENST00000361813.5 - 13 2023 c.1879G>A c.(1879-1881)Gag>Aag p.E627K SMG5_ENST00000368267.4_Intron NM_015327.2 NP_056142.2 Q9UPR3 SMG5_HUMAN SMG5 nonsense mediated mRNA decay factor 627 mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation cytoplasm|nucleus protein phosphatase 2A binding NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 48 Hepatocellular(266;0.158) TCACTCCCCTCCGACTCAGAG 0.562000 43 55 0 0 0.003214 0 0 CSMD2 114784 broad.mit.edu 37 1 33985221 33985221 + Missense_Mutation SNP C C T TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr1:33985221C>T ENST00000373381.4 - 70 10969 c.10793G>A c.(10792-10794)cGg>cAg p.R3598Q NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 3454 integral to membrane|plasma membrane protein binding p.R3454L(1)|p.R3454Q(1) NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) AAATGTGGCCCGAACATTGGT 0.532000 100 219 0 0 0.003610 0 0 WIZ 58525 broad.mit.edu 37 19 15535023 15535023 + Silent SNP G G A TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr19:15535023G>A ENST00000389282.4 - 9 4980 c.4767C>T c.(4765-4767)ttC>ttT p.F1589F WIZ_ENST00000263381.6_Silent_p.F732F|WIZ_ENST00000599686.2_Silent_p.F773F|WIZ_ENST00000599910.1_Silent_p.F906F|WIZ_ENST00000545156.1_Silent_p.F903F O95785 WIZ_HUMAN widely interspaced zinc finger motifs 1589 nucleus zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1) 24 TGTTGCCCACGAACTTGACAA 0.647000 10 11 0 0 0.006214 0 0 ABCB5 340273 broad.mit.edu 37 7 20725384 20725384 + Silent SNP A A C TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr7:20725384A>C ENST00000404938.2 + 16 2587 c.1935A>C c.(1933-1935)tcA>tcC p.S645S ABCB5_ENST00000258738.6_Silent_p.S200S NM_001163941.1 NP_001157413.1 Q2M3G0 ABCB5_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 5 200 ABC transporter 2. regulation of membrane potential apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1) 77 AGACCAACTCACTTCCTCTGC 0.388000 14 15 0 0 0.003163 0 0 ZNF700 90592 broad.mit.edu 37 19 12059734 12059734 + Missense_Mutation SNP A A G TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr19:12059734A>G ENST00000482090.1 + 3 1259 c.841A>G c.(841-843)Agt>Ggt p.S281G ZNF763_ENST00000538752.1_Intron|ZNF763_ENST00000590798.1_Intron|ZNF700_ENST00000254321.5_Missense_Mutation_p.S299G|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000591944.1_Intron Q9H0M5 ZN700_HUMAN zinc finger protein 700 299 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ZNF700/MAST1_ENST00000251472(2) breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1) 33 ACATGAAAGAAGTCACATGGG 0.388000 9 15 0 0 0.004482 0 0 POTEA 340441 broad.mit.edu 37 8 43147853 43147853 + RNA SNP G G A TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr8:43147853G>A ENST00000522175.2 + 0 228 Q6S8J7 POTEA_HUMAN POTE ankyrin domain family, member A breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 TGCCTGGTGGGGTGAAGTCCC 0.602000 23 45 0 0 0.003330 0 0 DIRAS2 54769 broad.mit.edu 37 9 93375806 93375806 + Missense_Mutation SNP C C T TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr9:93375806C>T ENST00000375765.3 - 2 692 c.304G>A c.(304-306)Gaa>Aaa p.E102K NM_017594.3 NP_060064.2 Q96HU8 DIRA2_HUMAN DIRAS family, GTP-binding RAS-like 2 102 small GTPase mediated signal transduction intracellular|plasma membrane GTP binding|GTPase activity p.E102K(3) kidney(1)|large_intestine(6)|lung(3)|skin(2) 12 CAGATTTGTTCGTAGATGGGC 0.592000 64 20 0 0 0.003610 0 0 OR4L1 122742 broad.mit.edu 37 14 20528879 20528879 + Missense_Mutation SNP C C T TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr14:20528879C>T ENST00000315683.1 + 1 676 c.676C>T c.(676-678)Cca>Tca p.P226S NM_001004717.1 NP_001004717.1 Q8NH43 OR4L1_HUMAN olfactory receptor, family 4, subfamily L, member 1 226 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2.9e-06) GBM - Glioblastoma multiforme(265;0.0064) GGTCAGTGTACCAAAAAAATC 0.438000 41 76 0 0 0.003214 0 0 DDX3X 1654 broad.mit.edu 37 X 41204554 41204554 + Missense_Mutation SNP G G A TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chrX:41204554G>A ENST00000399959.2 + 11 2002 c.1147G>A c.(1147-1149)Gct>Act p.A383T DDX3X_ENST00000478993.1_3'UTR|DDX3X_ENST00000542215.1_3'UTR|DDX3X_ENST00000457138.2_Missense_Mutation_p.A367T|DDX3X_ENST00000441189.2_Intron NM_001193416.1|NM_001193417.1|NM_001356.3 NP_001180345.1|NP_001180346.1|NP_001347.3 O00571 DDX3X_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked 383 Helicase ATP-binding.|Necessary for interaction with XPO1. interspecies interaction between organisms cytoplasm|nuclear speck ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 84 GATGTTTAGTGCTACTTTTCC 0.343000 HNSCC(61;0.18) 16 80 0 0 0.008871 0 0 DSC1 1823 broad.mit.edu 37 18 28710554 28710554 + Missense_Mutation SNP C C T TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr18:28710554C>T ENST00000257198.5 - 16 2869 c.2608G>A c.(2608-2610)Gaa>Aaa p.E870K DSC1_ENST00000257197.3_3'UTR|RP11-408H20.2_ENST00000581836.1_RNA NM_024421.2 NP_077739.1 Q08554 DSC1_HUMAN desmocollin 1 870 homophilic cell adhesion desmosome|gap junction|integral to membrane|membrane fraction calcium ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 OV - Ovarian serous cystadenocarcinoma(10;0.00778) CCCTCTTCTTCCTGCCGATCG 0.423000 24 56 0 0 0.003954 0 0 GRIA2 2891 broad.mit.edu 37 4 158254054 158254054 + Silent SNP C C T TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr4:158254054C>T ENST00000296526.7 + 7 1291 c.966C>T c.(964-966)tcC>tcT p.S322S GRIA2_ENST00000449365.1_Silent_p.S275S|GRIA2_ENST00000507898.1_Silent_p.S275S|GRIA2_ENST00000393815.2_Silent_p.S275S|GRIA2_ENST00000264426.9_Silent_p.S322S NM_000826.3 NP_000817.2 P42262 GRIA2_HUMAN glutamate receptor, ionotropic, AMPA 2 322 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.0294) L-Glutamic Acid(DB00142) TTGAAATCTCCCGAAGGGGGA 0.483000 36 45 0 0 0.003755 0 0 AP1M1 8907 broad.mit.edu 37 19 16337294 16337294 + Silent SNP C C T TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr19:16337294C>T ENST00000291439.3 + 6 1058 c.609C>T c.(607-609)ttC>ttT p.F203F AP1M1_ENST00000541844.1_Silent_p.F131F|AP1M1_ENST00000429941.2_Silent_p.F203F|AP1M1_ENST00000590756.1_Silent_p.F131F|AP1M1_ENST00000444449.2_Silent_p.F215F NM_032493.3 NP_115882.1 Q9BXS5 AP1M1_HUMAN adaptor-related protein complex 1, mu 1 subunit 203 MHD. cellular membrane organization|endosome to melanosome transport|interspecies interaction between organisms|intracellular protein transport|melanosome organization|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane protein binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2) 21 TGCGAGTCTTCCTCTCGGGCA 0.647000 4 5 0 0 0.000602 0 0 LAMC2 3918 broad.mit.edu 37 1 183209476 183209476 + Missense_Mutation SNP T T C TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr1:183209476T>C ENST00000264144.4 + 22 3343 c.3278T>C c.(3277-3279)gTt>gCt p.V1093A LAMC2_ENST00000461729.1_3'UTR|LAMC2_ENST00000493293.1_Missense_Mutation_p.V1093A NM_005562.2 NP_005553.2 Q13753 LAMC2_HUMAN laminin, gamma 2 1093 Domain II and I. cell adhesion|epidermis development|hemidesmosome assembly heparin binding breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 55 AACGCTGGGGTTACAATCCAA 0.483000 19 84 0 0 0.008871 0 0 POTEC 388468 broad.mit.edu 37 18 14511986 14511986 + Missense_Mutation SNP G G A TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr18:14511986G>A ENST00000358970.5 - 11 1539 c.1540C>T c.(1540-1542)Ctt>Ttt p.L514F NM_001137671.1 NP_001131143.1 B2RU33 POTEC_HUMAN POTE ankyrin domain family, member C 514 NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 TTATGACTAAGAGAAAGCTAA 0.313000 5 14 0 0 0.000602 0 0 PHLDB2 90102 broad.mit.edu 37 3 111604089 111604089 + Missense_Mutation SNP G G A TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr3:111604089G>A ENST00000431670.2 + 2 1576 c.1165G>A c.(1165-1167)Gaa>Aaa p.E389K PHLDB2_ENST00000412622.1_Missense_Mutation_p.E389K|PHLDB2_ENST00000393923.3_Missense_Mutation_p.E416K|PHLDB2_ENST00000478922.1_Missense_Mutation_p.E389K|PHLDB2_ENST00000481953.1_Missense_Mutation_p.E389K|PHLDB2_ENST00000477695.1_Missense_Mutation_p.E389K|PHLDB2_ENST00000393925.3_Missense_Mutation_p.E389K NM_001134438.1 NP_001127910.1 Q86SQ0 PHLB2_HUMAN pleckstrin homology-like domain, family B, member 2 389 cytoplasm|intermediate filament cytoskeleton|plasma membrane breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1) 55 TGGATCTGTGGAATTTGATGA 0.512000 29 57 0 0 0.005443 0 0 PLEKHS1 79949 broad.mit.edu 37 10 115531737 115531737 + Missense_Mutation SNP G G A TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr10:115531737G>A ENST00000361048.1 + 8 888 c.561G>A c.(559-561)atG>atA p.M187I PLEKHS1_ENST00000369310.3_Missense_Mutation_p.M181I|PLEKHS1_ENST00000369312.4_Missense_Mutation_p.M99I|PLEKHS1_ENST00000369309.1_Start_Codon_SNP_p.M1I NM_024889.4 NP_079165.3 pleckstrin homology domain containing, family S member 1 AGCATTTAATGGAACAAAGTT 0.343000 24 25 0 0 0.002780 0 0 TRPC7 57113 broad.mit.edu 37 5 135551958 135551958 + Silent SNP G G A TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr5:135551958G>A ENST00000513104.1 - 11 2631 c.2349C>T c.(2347-2349)atC>atT p.I783I TRPC7-AS1_ENST00000514459.1_RNA|TRPC7_ENST00000426057.2_Silent_p.I667I|TRPC7_ENST00000355180.3_Silent_p.I722I NM_020389.2 NP_065122.1 Q9HCX4 TRPC7_HUMAN transient receptor potential cation channel, subfamily C, member 7 783 axon guidance|platelet activation integral to membrane|plasma membrane calcium channel activity|protein binding NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3) 46 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GCCGTTTCATGATTTTCTGAA 0.512000 6 11 0 0 0.001984 0 0 SENP7 57337 broad.mit.edu 37 3 101059023 101059023 + Missense_Mutation SNP C C T TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr3:101059023C>T ENST00000394095.2 - 16 2326 c.2273G>A c.(2272-2274)gGg>gAg p.G758E SENP7_ENST00000348610.3_Missense_Mutation_p.G725E|SENP7_ENST00000394091.1_Missense_Mutation_p.G594E|SENP7_ENST00000394094.2_Missense_Mutation_p.G693E|SENP7_ENST00000358203.3_Missense_Mutation_p.G594E|SENP7_ENST00000314261.7_Missense_Mutation_p.G692E NM_020654.3 NP_065705.3 Q9BQF6 SENP7_HUMAN SUMO1/sentrin specific peptidase 7 758 proteolysis nucleus cysteine-type peptidase activity breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 TCCTAATCCCCCCTTAGTAGG 0.294000 8 18 0 0 0.004482 0 0 GUK1 2987 broad.mit.edu 37 1 228334611 228334611 + Missense_Mutation SNP G G A TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr1:228334611G>A ENST00000366718.1 + 4 650 c.223G>A c.(223-225)Gag>Aag p.E75K GUK1_ENST00000366723.1_Missense_Mutation_p.E96K|GUK1_ENST00000366721.1_Missense_Mutation_p.E77K|GUK1_ENST00000366726.1_Missense_Mutation_p.E75K|GUK1_ENST00000366728.2_Missense_Mutation_p.E96K|GUK1_ENST00000312726.4_Missense_Mutation_p.E75K|GUK1_ENST00000366730.1_Missense_Mutation_p.E75K|GUK1_ENST00000366722.1_Missense_Mutation_p.E75K|GUK1_ENST00000366716.1_Missense_Mutation_p.E75K|GUK1_ENST00000391865.3_Missense_Mutation_p.E96K|GUK1_ENST00000470040.1_3'UTR NM_001159391.1 NP_001152863.1 Q16774 KGUA_HUMAN guanylate kinase 1 75 Guanylate kinase-like. nucleobase, nucleoside and nucleotide interconversion|purine nucleotide metabolic process cytosol ATP binding|guanylate kinase activity endometrium(2)|lung(5)|prostate(1)|soft_tissue(1) 9 Prostate(94;0.0405) CGAGCATGCCGAGTTCTCGGG 0.607000 30 95 0 0 0.004289 0 0 HNRNPL 3191 broad.mit.edu 37 19 39330868 39330868 + Silent SNP T T G TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr19:39330868T>G ENST00000221419.5 - 8 1467 c.1101A>C c.(1099-1101)ccA>ccC p.P367P HNRNPL_ENST00000600873.1_Silent_p.P234P NM_001533.2 NP_001524.2 P14866 HNRPL_HUMAN heterogeneous nuclear ribonucleoprotein L 367 Pro-rich. nuclear mRNA splicing, via spliceosome cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding p.P367P(1)|p.P234P(1) NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 30 all_cancers(60;6.83e-06)|Ovarian(47;0.0454) Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575) GGGGAGGGGGTGGGGGGTGCC 0.642000 3 9 0 0 0.004482 0 0 MYO3B 140469 broad.mit.edu 37 2 171323156 171323156 + Silent SNP G G A TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr2:171323156G>A ENST00000334231.6 + 25 2976 c.2976G>A c.(2974-2976)ctG>ctA p.L992L MYO3B_ENST00000408978.4_Silent_p.L983L|MYO3B_ENST00000602629.1_Intron|MYO3B_ENST00000409044.3_Silent_p.L983L Q8WXR4 MYO3B_HUMAN myosin IIIB 983 Myosin head-like. response to stimulus|visual perception cytoplasm|myosin complex actin binding|ATP binding|motor activity|protein serine/threonine kinase activity breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 59 CAGGGATTCTGGAGACAGTCA 0.537000 20 79 0 0 0.001882 0 0 SPTA1 6708 broad.mit.edu 37 1 158607904 158607904 + Missense_Mutation SNP G G T TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr1:158607904G>T ENST00000368148.3 - 36 5288 c.5108C>A c.(5107-5109)gCt>gAt p.A1703D SPTA1_ENST00000368147.3_Missense_Mutation_p.A1703D NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 1703 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) GTGGTGTGCAGCTGCCAATTC 0.443000 38 118 1.90571e-15 3.55531e-15 0.004289 1 0 SPAG17 200162 broad.mit.edu 37 1 118548050 118548050 + Missense_Mutation SNP C C T TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr1:118548050C>T ENST00000336338.5 - 32 4828 c.4763G>A c.(4762-4764)gGa>gAa p.G1588E NM_206996.2 NP_996879.1 Q6Q759 SPG17_HUMAN sperm associated antigen 17 1588 cilium|flagellar axoneme|microtubule NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 123 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) AAAAGTGTTTCCCTCAGGATC 0.428000 41 77 0 0 0.007835 0 0 SPHKAP 80309 broad.mit.edu 37 2 228884208 228884208 + Silent SNP C C T TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr2:228884208C>T ENST00000392056.3 - 7 1408 c.1362G>A c.(1360-1362)caG>caA p.Q454Q SPHKAP_ENST00000344657.5_Silent_p.Q454Q NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 454 cytoplasm protein binding NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) CATCTGGACTCTGAACAACGA 0.502000 20 51 0 0 0.007413 0 0 MRGPRX2 117194 broad.mit.edu 37 11 19077323 19077323 + Silent SNP G G A TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr11:19077323G>A ENST00000329773.2 - 2 714 c.627C>T c.(625-627)atC>atT p.I209I NM_054030.2 NP_473371.1 Q96LB1 MRGX2_HUMAN MAS-related GPR, member X2 209 sensory perception of pain|sleep plasma membrane G-protein coupled receptor activity|neuropeptide binding NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1) 15 AGCCACAGAGGATCCTGACCA 0.547000 10 23 0 0 0.008291 0 0 GPR112 139378 broad.mit.edu 37 X 135428482 135428482 + Missense_Mutation SNP G G A rs143735478 TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chrX:135428482G>A ENST00000394143.1 + 6 2908 c.2617G>A c.(2617-2619)Gaa>Aaa p.E873K GPR112_ENST00000370652.1_Missense_Mutation_p.E873K|GPR112_ENST00000412101.1_Missense_Mutation_p.E668K|GPR112_ENST00000394141.1_Missense_Mutation_p.E668K|GPR112_ENST00000287534.4_Missense_Mutation_p.E810K NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 873 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) AGTGACAGACGAATCAGCACA 0.403000 63 81 0 0 0.003610 0 0 STK33 65975 broad.mit.edu 37 11 8494754 8494754 + Missense_Mutation SNP C C T TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr11:8494754C>T ENST00000447869.1 - 2 1213 c.295G>A c.(295-297)Gga>Aga p.G99R STK33_ENST00000534493.1_Missense_Mutation_p.G58R|STK33_ENST00000396672.1_Missense_Mutation_p.G99R|STK33_ENST00000358872.3_Intron|STK33_ENST00000315204.1_Missense_Mutation_p.G99R|STK33_ENST00000396673.1_Missense_Mutation_p.G99R Q9BYT3 STK33_HUMAN serine/threonine kinase 33 99 Golgi apparatus|nucleus|perinuclear region of cytoplasm ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3) 23 Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239) GGAACTTTTCCTTCTGTAAAG 0.378000 35 120 0 0 0.006999 0 0 SHROOM4 57477 broad.mit.edu 37 X 50341289 50341289 + Missense_Mutation SNP C C T TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chrX:50341289C>T ENST00000376020.2 - 8 4214 c.4189G>A c.(4189-4191)Gat>Aat p.D1397N SHROOM4_ENST00000460112.3_Missense_Mutation_p.D1281N|SHROOM4_ENST00000289292.7_Missense_Mutation_p.D1397N NM_020717.3 NP_065768.2 Q9ULL8 SHRM4_HUMAN shroom family member 4 1397 ASD2. actin filament organization|brain development|cell morphogenesis|cognition apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus actin filament binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 52 Ovarian(276;0.236) GCCTCTGAATCGATGCTGTTC 0.522000 11 38 0 0 0.001855 0 0 ZNF821 55565 broad.mit.edu 37 16 71894328 71894328 + Missense_Mutation SNP G G A TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr16:71894328G>A ENST00000425432.1 - 8 1211 c.832C>T c.(832-834)Cgc>Tgc p.R278C ZNF821_ENST00000565601.1_Missense_Mutation_p.R278C|ZNF821_ENST00000313565.6_Missense_Mutation_p.R236C|RP11-498D10.4_ENST00000569119.1_Intron|ZNF821_ENST00000564134.1_3'UTR|ZNF821_ENST00000446827.2_Missense_Mutation_p.R236C|RP11-498D10.4_ENST00000568581.1_Intron NM_001201552.1 NP_001188481.1 O75541 ZN821_HUMAN zinc finger protein 821 278 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(2) 13 TTGGCCGTGCGCTCTCGTTCC 0.627000 22 48 0 0 0.003330 0 0 ZXDA 7789 broad.mit.edu 37 X 57936240 57936240 + Silent SNP G G A TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chrX:57936240G>A ENST00000358697.4 - 1 827 c.615C>T c.(613-615)atC>atT p.I205I NM_007156.4 NP_009087.1 P98168 ZXDA_HUMAN zinc finger, X-linked, duplicated A 205 positive regulation of transcription, DNA-dependent nucleus C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1) 37 CTTGGGGGGCGATCAGACACC 0.716000 5 22 0 0 0.000602 0 0 SPEG 10290 broad.mit.edu 37 2 220334052 220334052 + Silent SNP C C T TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr2:220334052C>T ENST00000312358.7 + 13 3798 c.3666C>T c.(3664-3666)ttC>ttT p.F1222F SPEG_ENST00000485813.1_3'UTR NM_005876.4 NP_005867.3 Q15772 SPEG_HUMAN SPEG complex locus 1222 Ig-like 6. muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4) 100 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) TCAGCTGGTTCCACAATGGCC 0.647000 7 14 0 0 0.003080 0 0 AP4E1 23431 broad.mit.edu 37 15 51221267 51221267 + Nonsense_Mutation SNP C C T TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr15:51221267C>T ENST00000261842.5 + 6 710 c.604C>T c.(604-606)Caa>Taa p.Q202* AP4E1_ENST00000560508.1_Nonsense_Mutation_p.Q127* NM_001252127.1|NM_007347.4 NP_001239056.1|NP_031373.2 Q9UPM8 AP4E1_HUMAN adaptor-related protein complex 4, epsilon 1 subunit 202 intracellular protein transport|vesicle-mediated transport COPI vesicle coat binding|structural molecule activity breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2) 27 all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364) TGCTCCTAATCAAGTACAACA 0.353000 14 27 0 0 0.002450 0 0 DNAH5 1767 broad.mit.edu 37 5 13753547 13753547 + Missense_Mutation SNP G G A TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr5:13753547G>A ENST00000265104.4 - 63 10771 c.10667C>T c.(10666-10668)cCa>cTa p.P3556L NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3556 microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) CTTTCCAAATGGAATTTTCCG 0.398000 Kartagener syndrome 41 101 0 0 0.003214 0 0 B3GALNT2 148789 broad.mit.edu 37 1 235647706 235647706 + Missense_Mutation SNP A A G TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr1:235647706A>G ENST00000366600.3 - 4 715 c.487T>C c.(487-489)Ttc>Ctc p.F163L B3GALNT2_ENST00000478199.1_5'UTR|B3GALNT2_ENST00000313984.3_Missense_Mutation_p.F204L NM_152490.2 NP_689703.1 Q8NCR0 B3GL2_HUMAN beta-1,3-N-acetylgalactosaminyltransferase 2 163 protein glycosylation Golgi membrane|integral to membrane galactosyltransferase activity NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 18 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.0539)|Prostate(94;0.0353) OV - Ovarian serous cystadenocarcinoma(106;0.000117) GCATCGTAGAACACTCCAAGA 0.483000 60 138 0 0 0.003610 0 0 CRTC2 200186 broad.mit.edu 37 1 153921594 153921594 + Silent SNP C C T TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr1:153921594C>T ENST00000368633.1 - 12 1798 c.1671G>A c.(1669-1671)ggG>ggA p.G557G CRTC2_ENST00000368630.3_Silent_p.G237G NM_181715.2 NP_859066.1 Q53ET0 CRTC2_HUMAN CREB regulated transcription coactivator 2 557 interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus protein binding NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2) 27 all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) TACTCACATTCCCCAGGTTGA 0.587000 32 33 0 0 0.006230 0 0 DGKB 1607 broad.mit.edu 37 7 14613891 14613891 + Silent SNP C C T TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr7:14613891C>T ENST00000403951.2 - 20 2138 c.1719G>A c.(1717-1719)gaG>gaA p.E573E DGKB_ENST00000402815.1_Silent_p.E572E|DGKB_ENST00000406247.3_Silent_p.E573E|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000407950.1_Silent_p.E565E|DGKB_ENST00000399322.3_Silent_p.E573E|DGKB_ENST00000444700.2_Silent_p.E554E|DGKB_ENST00000258767.5_Silent_p.E573E Q9Y6T7 DGKB_HUMAN diacylglycerol kinase, beta 90kDa 573 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 Phosphatidylserine(DB00144) GGTCTCCTTTCTCATCTTTGT 0.358000 63 144 0 0 0.003610 0 0 ZSCAN5B 342933 broad.mit.edu 37 19 56704310 56704310 + Missense_Mutation SNP T T A TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr19:56704310T>A ENST00000586855.2 - 2 425 c.112A>T c.(112-114)Agg>Tgg p.R38W ZSCAN5B_ENST00000358992.3_Missense_Mutation_p.R38W A6NJL1 ZSA5B_HUMAN zinc finger and SCAN domain containing 5B 38 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 37 TCAGGGTTCCTGTCGTGATTT 0.562000 3 21 0 0 0.000248 0 0 MTOR 2475 broad.mit.edu 37 1 11300494 11300494 + Missense_Mutation SNP G G A TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr1:11300494G>A ENST00000361445.4 - 11 1728 c.1652C>T c.(1651-1653)cCc>cTc p.P551L NM_004958.3 NP_004949.1 P42345 MTOR_HUMAN mechanistic target of rapamycin (serine/threonine kinase) 551 cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex ATP binding|phosphoprotein binding|protein serine/threonine kinase activity breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 149 GTGGCGAAGGGGTTTGTGCAT 0.582000 42 56 0 0 0.007835 0 0 ZNF683 257101 broad.mit.edu 37 1 26691379 26691379 + Missense_Mutation SNP G G A TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr1:26691379G>A ENST00000436292.1 - 4 778 c.658C>T c.(658-660)Ctc>Ttc p.L220F ZNF683_ENST00000374204.1_Missense_Mutation_p.L220F|ZNF683_ENST00000349618.3_Missense_Mutation_p.L220F|ZNF683_ENST00000403843.1_Missense_Mutation_p.L220F Q8IZ20 ZN683_HUMAN zinc finger protein 683 220 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1) 15 all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233) GGCAGCATGAGGAGGTGGGGA 0.607000 20 49 0 0 0.001523 0 0 FBLN2 2199 broad.mit.edu 37 3 13612972 13612972 + Missense_Mutation SNP G G A TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr3:13612972G>A ENST00000404922.3 + 2 1236 c.1117G>A c.(1117-1119)Gtg>Atg p.V373M FBLN2_ENST00000492059.1_Missense_Mutation_p.V373M|FBLN2_ENST00000535798.1_Missense_Mutation_p.V399M|FBLN2_ENST00000295760.7_Missense_Mutation_p.V373M NM_001004019.1 NP_001004019.1 P98095 FBLN2_HUMAN fibulin 2 373 N.|Subdomain NB (Cys-free). proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1) 24 UCEC - Uterine corpus endometrioid carcinoma (1;0.00416) AACTCAGGCCGTGCCTGGCTC 0.667000 4 18 0 0 0.000248 0 0 SLC8A3 6547 broad.mit.edu 37 14 70515650 70515650 + Silent SNP G G A TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr14:70515650G>A ENST00000381269.2 - 7 2994 c.2241C>T c.(2239-2241)ccC>ccT p.P747P SLC8A3_ENST00000357887.3_Silent_p.P745P|SLC8A3_ENST00000534137.1_Silent_p.P744P|SLC8A3_ENST00000528359.1_Silent_p.P745P|SLC8A3_ENST00000533541.1_Silent_p.P104P|SLC8A3_ENST00000394330.2_Silent_p.P104P|SLC8A3_ENST00000356921.2_Silent_p.P741P|SLC8A3_ENST00000216568.7_Silent_p.P118P NM_058240.2|NM_183002.1 NP_489479.1|NP_892114.1 P57103 NAC3_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 3 747 cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6) 54 BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555) ACTCTGTGGGGGGCACACAGG 0.597000 7 23 0 0 0.001984 0 0 NCAM1 4684 broad.mit.edu 37 11 113076293 113076293 + Missense_Mutation SNP G G A TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr11:113076293G>A ENST00000316851.7 + 3 365 c.365G>A c.(364-366)gGg>gAg p.G122E NCAM1_ENST00000401611.2_Missense_Mutation_p.G131E|NCAM1_ENST00000533760.1_Missense_Mutation_p.G14E|NCAM1_ENST00000397957.4_3'UTR NM_001242607.1|NM_181351.4 NP_001229536.1|NP_851996.2 P13591 NCAM1_HUMAN neural cell adhesion molecule 1 132 Ig-like C2-type 2. axon guidance|interferon-gamma-mediated signaling pathway anchored to membrane|extracellular region|Golgi membrane|integral to membrane p.G122E(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1) 49 all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207) BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212) TTCCGGGAGGGGGAAGATGCC 0.502000 28 51 0 0 0.007291 0 0 SLIT2 9353 broad.mit.edu 37 4 20525429 20525429 + Nonsense_Mutation SNP C C T TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr4:20525429C>T ENST00000504154.1 + 13 1429 c.1177C>T c.(1177-1179)Cag>Tag p.Q393* SLIT2_ENST00000273739.5_Nonsense_Mutation_p.Q397*|SLIT2_ENST00000503823.1_Nonsense_Mutation_p.Q393*|SLIT2_ENST00000503837.1_Nonsense_Mutation_p.Q397* NM_004787.1 NP_004778.1 O94813 SLIT2_HUMAN slit homolog 2 (Drosophila) 393 apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 116 AGATGCTTTTCAGGATCTCCA 0.403000 21 66 0 0 0.002299 0 0 CYP1A1 1543 broad.mit.edu 37 15 75013590 75013590 + Silent SNP G G A TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr15:75013590G>A ENST00000379727.3 - 5 1314 c.1116C>T c.(1114-1116)atC>atT p.I372I CYP1A1_ENST00000395048.2_Silent_p.I372I|CYP1A1_ENST00000395049.4_Silent_p.I372I|CYP1A1_ENST00000564596.1_Silent_p.I111I|CYP1A1_ENST00000567032.1_Silent_p.I372I P04798 CP1A1_HUMAN cytochrome P450, family 1, subfamily A, polypeptide 1 372 cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730) AGGTCTCCAGGATGAAGGCCT 0.577000 Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia 29 87 0 0 0.008361 0 0 OSBPL10 114884 broad.mit.edu 37 3 31725457 31725457 + Silent SNP G G A TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr3:31725457G>A ENST00000396556.2 - 8 1517 c.1395C>T c.(1393-1395)gcC>gcT p.A465A OSBPL10_ENST00000438237.2_Silent_p.A401A NM_017784.4 NP_060254.2 Q9BXB5 OSB10_HUMAN oxysterol binding protein-like 10 465 lipid transport lipid binding breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 34 STAD - Stomach adenocarcinoma(1;0.00406) CCTCGTGAAAGGCTGTGAGAT 0.552000 24 55 0 0 0.005443 0 0 OR10R2 343406 broad.mit.edu 37 1 158450547 158450547 + Missense_Mutation SNP G G T TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr1:158450547G>T ENST00000368152.1 + 1 880 c.880G>T c.(880-882)Gtg>Ttg p.V294L RP11-144L1.4_ENST00000426251.1_RNA|RP11-144L1.4_ENST00000419738.1_RNA NM_001004472.1 NP_001004472.1 Q8NGX6 O10R2_HUMAN olfactory receptor, family 10, subfamily R, member 2 294 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 41 all_hematologic(112;0.0378) AGACAGGCTGGTGACGGTGAC 0.458000 28 56 7.38237e-10 1.36646e-09 0.006320 1 0 CSF2RB 1439 broad.mit.edu 37 22 37334036 37334036 + Missense_Mutation SNP C C T rs147430768 TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr22:37334036C>T ENST00000262825.5 + 14 2421 c.2204C>T c.(2203-2205)tCc>tTc p.S735F CSF2RB_ENST00000406230.1_Missense_Mutation_p.S735F|CSF2RB_ENST00000403662.3_Missense_Mutation_p.S729F|CSF2RB_ENST00000536485.1_Missense_Mutation_p.S676F NM_000395.2 NP_000386.1 P32927 IL3RB_HUMAN colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) 729 respiratory gaseous exchange granulocyte macrophage colony-stimulating factor receptor complex cytokine receptor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2) 42 Sargramostim(DB00020) TCGTCTGTCTCCCTAGTTCCC 0.632000 20 96 0 0 0.003330 0 0 TP53BP2 7159 broad.mit.edu 37 1 223987610 223987610 + Silent SNP C C T TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr1:223987610C>T ENST00000391878.2 - 12 1857 c.1089G>A c.(1087-1089)cgG>cgA p.R363R TP53BP2_ENST00000498843.1_5'UTR|TP53BP2_ENST00000391879.2_5'UTR|TP53BP2_ENST00000343537.7_Silent_p.R492R NM_005426.2 NP_005417.1 Q13625 ASPP2_HUMAN tumor protein p53 binding protein, 2 486 apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction nucleus|perinuclear region of cytoplasm NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2) 29 GBM - Glioblastoma multiforme(131;0.0958) CCTGAGCATCCCGCAAGATAT 0.413000 29 32 0 0 0.006320 0 0 FLNA 2316 broad.mit.edu 37 X 153580735 153580735 + Missense_Mutation SNP T T C TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chrX:153580735T>C ENST00000422373.1 - 40 6807 c.6559A>G c.(6559-6561)Aac>Gac p.N2187D FLNA_ENST00000360319.4_Missense_Mutation_p.N2187D|FLNA_ENST00000369850.3_Missense_Mutation_p.N2195D|FLNA_ENST00000369856.3_Missense_Mutation_p.N328D|FLNA_ENST00000344736.4_Missense_Mutation_p.N2155D NM_001456.3 NP_001447.2 P21333 FLNA_HUMAN filamin A, alpha 2195 actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) TAGGTGTGGTTCTCCCCTTCC 0.592000 24 65 0 0 0.003954 0 0 SLC25A17 10478 broad.mit.edu 37 22 41173357 41173357 + Missense_Mutation SNP G G A rs139416009 TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr22:41173357G>A ENST00000402844.3 - 2 1206 c.226C>T c.(226-228)Cgc>Tgc p.R76C SLC25A17_ENST00000435456.2_Missense_Mutation_p.R158C|SLC25A17_ENST00000491545.1_5'UTR|SLC25A17_ENST00000542412.1_Missense_Mutation_p.R85C|SLC25A17_ENST00000544408.1_Missense_Mutation_p.R121C O43808 PM34_HUMAN solute carrier family 25 (mitochondrial carrier; peroxisomal membrane protein, 34kDa), member 17 158 fatty acid alpha-oxidation integral to plasma membrane|mitochondrial inner membrane|peroxisomal membrane adenine nucleotide transmembrane transporter activity|protein binding central_nervous_system(1)|large_intestine(4)|lung(2)|skin(1) 8 CCTTCATCGCGAATGATCTGA 0.398000 20 19 0 0 0.001882 0 0 ARPP21 10777 broad.mit.edu 37 3 35763118 35763118 + Silent SNP G G A TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr3:35763118G>A ENST00000187397.4 + 14 1473 c.1017G>A c.(1015-1017)ggG>ggA p.G339G ARPP21_ENST00000337271.5_Silent_p.G285G|ARPP21_ENST00000417925.1_Silent_p.G305G|ARPP21_ENST00000458225.1_Silent_p.G305G|ARPP21_ENST00000444190.1_Silent_p.G285G NM_016300.4 NP_057384.2 Q9UBL0 ARP21_HUMAN cAMP-regulated phosphoprotein, 21kDa 339 Ser-rich. cytoplasm nucleic acid binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 61 ATGGCTCAGGGAGAACATCTG 0.542000 14 28 0 0 0.004007 0 0 COL1A2 1278 broad.mit.edu 37 7 94050349 94050349 + Missense_Mutation SNP G G A TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr7:94050349G>A ENST00000297268.6 + 38 2795 c.2324G>A c.(2323-2325)gGa>gAa p.G775E NM_000089.3 NP_000080.2 P08123 CO1A2_HUMAN collagen, type I, alpha 2 775 Missing (in OI2A). axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 115 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) GGTCCTGCTGGAAGTCGTGGT 0.428000 HNSCC(75;0.22) 28 53 0 0 0.001786 0 0 OR8I2 120586 broad.mit.edu 37 11 55861168 55861168 + Missense_Mutation SNP C C T TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr11:55861168C>T ENST00000302124.2 + 1 416 c.385C>T c.(385-387)Ccc>Tcc p.P129S OR8I2_ENST00000560768.1_Missense_Mutation_p.P129S Q8N0Y5 OR8I2_HUMAN olfactory receptor, family 8, subfamily I, member 2 129 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 53 Esophageal squamous(21;0.00693) AATCTGCAATCCCTTACTGTA 0.438000 28 65 0 0 0.007291 0 0 TMEM132B 114795 broad.mit.edu 37 12 126135452 126135452 + Missense_Mutation SNP G G A TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr12:126135452G>A ENST00000299308.3 + 7 1860 c.1852G>A c.(1852-1854)Gac>Aac p.D618N TMEM132B_ENST00000535886.1_Missense_Mutation_p.D130N NM_052907.2 NP_443139.2 Q14DG7 T132B_HUMAN transmembrane protein 132B 618 integral to membrane NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1) 107 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) TCAGTTACAGGACGGCAGGAC 0.597000 10 31 0 0 0.006214 0 0 CHD8 57680 broad.mit.edu 37 14 21873466 21873466 + Missense_Mutation SNP G G A TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr14:21873466G>A ENST00000399982.2 - 15 3273 c.3209C>T c.(3208-3210)tCc>tTc p.S1070F CHD8_ENST00000557364.1_Missense_Mutation_p.S1070F|CHD8_ENST00000555962.1_Intron|CHD8_ENST00000430710.3_Missense_Mutation_p.S791F NM_001170629.1 NP_001164100.1 Q9HCK8 CHD8_HUMAN chromodomain helicase DNA binding protein 8 1070 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 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) GGAAAGGAAGGAGAAATTCTT 0.408000 7 13 0 0 0.003080 0 0 TRPV5 56302 broad.mit.edu 37 7 142609705 142609705 + Missense_Mutation SNP C C T TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr7:142609705C>T ENST00000265310.1 - 13 2079 c.1731G>A c.(1729-1731)atG>atA p.M577I NM_019841.4 NP_062815.2 Q9NQA5 TRPV5_HUMAN transient receptor potential cation channel, subfamily V, member 5 577 protein tetramerization apical plasma membrane|integral to plasma membrane calcium channel activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 67 Melanoma(164;0.059) TGTCGCCCATCATGGCGATGA 0.542000 83 25 0 0 0.003610 0 0 HSH2D 84941 broad.mit.edu 37 19 16268098 16268098 + Missense_Mutation SNP G G A TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr19:16268098G>A ENST00000593154.2 + 8 1084 c.553G>A c.(553-555)Gaa>Aaa p.E185K HSH2D_ENST00000588246.1_Missense_Mutation_p.E185K|HSH2D_ENST00000397372.4_Missense_Mutation_p.E96K|HSH2D_ENST00000253680.6_Missense_Mutation_p.E185K NM_032855.2 NP_116244.1 Q96JZ2 HSH2D_HUMAN hematopoietic SH2 domain containing 185 cytoplasm|nucleus central_nervous_system(1)|kidney(1)|large_intestine(2) 4 AACCACCAAGGAAGCCACTTC 0.562000 15 29 0 0 0.004007 0 0 CDH9 1007 broad.mit.edu 37 5 26902839 26902839 + Splice_Site SNP C C T TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr5:26902839C>T ENST00000231021.4 - 7 1172 c.e7-1 NM_016279.3 NP_057363.3 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 (T1-cadherin) adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 137 AATCTAAATTCTGGAGTTAAA 0.323000 6 20 0 0 0.001168 0 0 COL5A3 50509 broad.mit.edu 37 19 10088149 10088149 + Splice_Site SNP C C T TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr19:10088149C>T ENST00000264828.3 - 43 3212 c.e43-1 NM_015719.3 NP_056534.2 P25940 CO5A3_HUMAN collagen, type V, alpha 3 collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 116 Epithelial(33;7.11e-05) CACGTTCTCCCTGTTGTGGGG 0.657000 31 46 0 0 0.002096 0 0 CNOT4 4850 broad.mit.edu 37 7 135080575 135080575 + Missense_Mutation SNP G G A TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr7:135080575G>A ENST00000428680.2 - 9 1210 c.931C>T c.(931-933)Ccc>Tcc p.P311S CNOT4_ENST00000361528.4_Missense_Mutation_p.P311S|CNOT4_ENST00000356162.4_Missense_Mutation_p.P314S|CNOT4_ENST00000541284.1_Missense_Mutation_p.P314S|CNOT4_ENST00000315544.5_Missense_Mutation_p.P314S|CNOT4_ENST00000423368.2_Missense_Mutation_p.P314S|CNOT4_ENST00000414802.1_Missense_Mutation_p.P314S|CNOT4_ENST00000451834.1_Missense_Mutation_p.P311S NM_001008225.2 NP_001008226.1 O95628 CNOT4_HUMAN CCR4-NOT transcription complex, subunit 4 314 nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1) 22 GAACTGATGGGGATGACTGGA 0.413000 11 23 0 0 0.002450 0 0 HYDIN 54768 broad.mit.edu 37 16 71007919 71007919 + Missense_Mutation SNP A A G TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr16:71007919A>G ENST00000393567.2 - 34 5192 c.5042T>C c.(5041-5043)gTt>gCt p.V1681A NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 1681 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) TGGCCCTCCAACCACCTAGAG 0.483000 20 38 0 0 0.003954 0 0 NYAP1 222950 broad.mit.edu 37 7 100087164 100087164 + Missense_Mutation SNP A A T TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr7:100087164A>T ENST00000423930.1 + 4 1979 c.1820A>T c.(1819-1821)cAc>cTc p.H607L NYAP1_ENST00000454988.1_Missense_Mutation_p.H550L|NYAP1_ENST00000300179.2_Missense_Mutation_p.H607L Q6ZVC0 CG051_HUMAN neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1 607 TCCTGTGCCCACGTCATCGCC 0.632000 29 58 0 0 0.002096 0 0 TEP1 7011 broad.mit.edu 37 14 20853249 20853249 + Missense_Mutation SNP C C T TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr14:20853249C>T ENST00000262715.5 - 21 3042 c.3002G>A c.(3001-3003)gGg>gAg p.G1001E TEP1_ENST00000556935.1_Missense_Mutation_p.G893E NM_007110.4 NP_009041.2 Q99973 TEP1_HUMAN telomerase-associated protein 1 1001 telomere maintenance via recombination chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex ATP binding|RNA binding NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 96 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233) CACAGAGCGCCCTGAAGGGTA 0.597000 19 53 0 0 0.001523 0 0 THEM5 284486 broad.mit.edu 37 1 151824911 151824911 + Missense_Mutation SNP T T C TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr1:151824911T>C ENST00000368817.5 - 2 279 c.148A>G c.(148-150)Aca>Gca p.T50A NM_182578.3 NP_872384.1 Q8N1Q8 THEM5_HUMAN thioesterase superfamily member 5 50 hydrolase activity breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2) 15 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) TTCAAGTCTGTCTTCTCTGGC 0.512000 58 53 0 0 0.003610 0 0 MYO1E 4643 broad.mit.edu 37 15 59516941 59516941 + Missense_Mutation SNP C C T TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr15:59516941C>T ENST00000288235.4 - 8 1123 c.724G>A c.(724-726)Ggc>Agc p.G242S MYO1E_ENST00000558814.1_5'UTR NM_004998.3 NP_004989.2 Q12965 MYO1E_HUMAN myosin IE 242 Myosin head-like. actin filament-based movement myosin complex actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1) 33 all cancers(107;0.207) TTGTATGAGCCCGAGAGGCTC 0.557000 17 45 0 0 0.004007 0 0 CDH9 1007 broad.mit.edu 37 5 26902840 26902840 + Splice_Site SNP T T A TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr5:26902840T>A ENST00000231021.4 - 7 1172 c.e7-2 NM_016279.3 NP_057363.3 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 (T1-cadherin) adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 137 ATCTAAATTCTGGAGTTAAAT 0.323000 6 20 0 0 0.001168 0 0 PPP4R4 57718 broad.mit.edu 37 14 94707091 94707091 + Missense_Mutation SNP C C T TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr14:94707091C>T ENST00000304338.3 + 9 1089 c.935C>T c.(934-936)tCt>tTt p.S312F NM_058237.1 NP_478144.1 Q6NUP7 PP4R4_HUMAN protein phosphatase 4, regulatory subunit 4 312 cytoplasm|protein serine/threonine phosphatase complex protein binding NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2) 40 ATTCTTATTTCTTTATCTTTC 0.284000 9 50 0 0 0.006214 0 0 CACNA2D2 9254 broad.mit.edu 37 3 50404317 50404317 + Missense_Mutation SNP G G A TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr3:50404317G>A ENST00000435965.1 - 30 2728 c.2555C>T c.(2554-2556)gCt>gTt p.A852V XXcos-LUCA11.4_ENST00000607088.1_RNA|XXcos-LUCA11.4_ENST00000607121.1_RNA|XXcos-LUCA11.5_ENST00000606589.1_Intron|XXcos-LUCA11.4_ENST00000606665.1_RNA|XXcos-LUCA11.4_ENST00000606259.1_RNA|CACNA2D2_ENST00000479441.1_Missense_Mutation_p.A852V|CACNA2D2_ENST00000429770.1_Missense_Mutation_p.A845V|CACNA2D2_ENST00000424201.2_Missense_Mutation_p.A845V|CACNA2D2_ENST00000423994.2_Missense_Mutation_p.A852V|CACNA2D2_ENST00000395083.1_Missense_Mutation_p.A845V|CACNA2D2_ENST00000360963.3_Missense_Mutation_p.A776V|CACNA2D2_ENST00000266039.3_Missense_Mutation_p.A845V|XXcos-LUCA11.4_ENST00000607583.1_RNA Q9NY47 CA2D2_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 2 852 energy reserve metabolic process|regulation of insulin secretion integral to membrane|plasma membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1) 31 BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01) Gabapentin(DB00996) GAACTTCTCAGCCCAAGCCTC 0.597000 17 29 0 0 0.008871 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 59 13 0 0 0.003610 0 0 OR1F2P 26184 broad.mit.edu 37 16 3266097 3266097 + RNA SNP G G A TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr16:3266097G>A ENST00000576468.1 + 0 418 CCTGCTGATGGCTCGACTCTC 0.532000 13 20 0 0 0.001368 0 0 RNF145 153830 broad.mit.edu 37 5 158601155 158601155 + Silent SNP T T C TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr5:158601155T>C ENST00000424310.2 - 6 992 c.633A>G c.(631-633)gtA>gtG p.V211V RNF145_ENST00000518802.1_Silent_p.V241V|RNF145_ENST00000519865.1_Silent_p.V211V|RNF145_ENST00000520638.1_Silent_p.V225V|RNF145_ENST00000274542.2_Silent_p.V239V|RNF145_ENST00000521606.2_Silent_p.V228V NM_001199383.1 NP_001186312.1 Q96MT1 RN145_HUMAN ring finger protein 145 211 integral to membrane zinc ion binding endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 30 Renal(175;0.00196) Medulloblastoma(196;0.0523) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GAAGGCCATATACCTCCACTA 0.373000 7 11 0 0 0.001984 0 0 CEACAM20 125931 broad.mit.edu 37 19 45026939 45026939 + RNA SNP C C T TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr19:45026939C>T ENST00000454753.1 - 0 753 Q6UY09 CEA20_HUMAN carcinoembryonic antigen-related cell adhesion molecule 20 integral to membrane central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1) 15 Prostate(69;0.0352) GGATCAGGACCATCTGAGAGG 0.458000 92 154 0 0 0.003610 0 0 OR8I2 120586 broad.mit.edu 37 11 55861169 55861169 + Missense_Mutation SNP C C T TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr11:55861169C>T ENST00000302124.2 + 1 417 c.386C>T c.(385-387)cCc>cTc p.P129L OR8I2_ENST00000560768.1_Missense_Mutation_p.P129L Q8N0Y5 OR8I2_HUMAN olfactory receptor, family 8, subfamily I, member 2 129 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 53 Esophageal squamous(21;0.00693) ATCTGCAATCCCTTACTGTAT 0.443000 28 66 0 0 0.007291 0 0 C12orf40 283461 broad.mit.edu 37 12 40114730 40114730 + Missense_Mutation SNP A A G TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr12:40114730A>G ENST00000324616.5 + 13 1790 c.1636A>G c.(1636-1638)Aaa>Gaa p.K546E NM_001031748.2 NP_001026918.2 Q86WS4 CL040_HUMAN chromosome 12 open reading frame 40 546 breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2) 38 AAACGATGACAAAATTCACAA 0.333000 16 36 0 0 0.007413 0 0 PCDHGA2 56113 broad.mit.edu 37 5 140718682 140718682 + Silent SNP C C T rs150708423 TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr5:140718682C>T ENST00000394576.2 + 1 144 c.144C>T c.(142-144)atC>atT p.I48I PCDHGA1_ENST00000517417.1_Intron NM_018915.2 NP_061738.1 breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TAGGCAACATCGCCAAGGACT 0.612000 OREG0016854 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 37 69 0 0 0.005524 0 0 HSPA9 3313 broad.mit.edu 37 5 137906798 137906798 + Silent SNP G G A TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr5:137906798G>A ENST00000297185.3 - 4 386 c.261C>T c.(259-261)acC>acT p.T87T NM_004134.6 NP_004125.3 P38646 GRP75_HUMAN heat shock 70kDa protein 9 (mortalin) 87 anti-apoptosis|protein folding cell surface|mitochondrial nucleoid ATP binding|unfolded protein binding breast(2)|endometrium(1)|kidney(4)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(1) 28 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) CAACTGAAGGGGTGGTTCTGG 0.468000 16 25 0 0 0.004007 0 0 ATG7 10533 broad.mit.edu 37 3 11356816 11356816 + Splice_Site SNP A A T TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr3:11356816A>T ENST00000354449.3 + 7 553 c.e7-1 ATG7_ENST00000446450.2_Splice_Site|ATG7_ENST00000354956.5_Splice_Site NM_006395.2 NP_006386.1 O95352 ATG7_HUMAN autophagy related 7 autophagy|cellular membrane fusion|positive regulation of protein modification process|protein lipidation|protein transport cytoplasm APG12 activating enzyme activity|protein homodimerization activity|ubiquitin activating enzyme activity central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1) 34 TTCTGTTTTCAGATTGAAGCA 0.348000 9 26 0 0 0.000978 0 0 MPDU1 9526 broad.mit.edu 37 17 7490807 7490807 + Missense_Mutation SNP G G C rs147912291 TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr17:7490807G>C ENST00000250124.6 + 7 898 c.682G>C c.(682-684)Gcc>Ccc p.A228P MPDU1_ENST00000396501.4_3'UTR|MPDU1_ENST00000423172.2_Intron NM_004870.3 NP_004861.2 O75352 MPU1_HUMAN mannose-P-dolichol utilization defect 1 228 dolichol-linked oligosaccharide biosynthetic process|protein folding endoplasmic reticulum membrane|integral to membrane|mitochondrion protein binding central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(1)|lung(1) 7 CGGCCTCATCGCCGCCCAGCT 0.562000 42 66 0 0 0.002522 0 0 TRIOBP 11078 broad.mit.edu 37 22 38121191 38121191 + Silent SNP G G A TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr22:38121191G>A ENST00000406386.3 + 7 2883 c.2628G>A c.(2626-2628)gaG>gaA p.E876E RP1-37E16.12_ENST00000455236.1_RNA NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 876 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) CCCAAAAGGAGAATCTGAGAC 0.522000 28 124 0 0 0.007291 0 0 ITIH2 3698 broad.mit.edu 37 10 7786237 7786237 + Missense_Mutation SNP A A G TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr10:7786237A>G ENST00000358415.4 + 18 2568 c.2402A>G c.(2401-2403)aAt>aGt p.N801S ITIH2_ENST00000379587.4_Missense_Mutation_p.N790S NM_002216.2 NP_002207.2 P19823 ITIH2_HUMAN inter-alpha-trypsin inhibitor heavy chain 2 801 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 CAAGTCACGAATCAGAGGCAA 0.448000 21 13 0 0 0.002780 0 0 PAK7 57144 broad.mit.edu 37 20 9561212 9561212 + Silent SNP G G A TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr20:9561212G>A ENST00000378429.3 - 5 1116 c.570C>T c.(568-570)tcC>tcT p.S190S PAK7_ENST00000353224.5_Silent_p.S190S|PAK7_ENST00000378423.1_Silent_p.S190S NM_020341.3 NP_065074.1 Q9P286 PAK7_HUMAN p21 protein (Cdc42/Rac)-activated kinase 7 190 Linker. ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3) 81 COAD - Colon adenocarcinoma(9;0.194) TGGCAAAATCGGATTTCAAAG 0.468000 52 27 0 0 0.003610 0 0 SYNE2 23224 broad.mit.edu 37 14 64465735 64465735 + Nonsense_Mutation SNP C C T TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr14:64465735C>T ENST00000358025.3 + 27 3687 c.3457C>T c.(3457-3459)Cag>Tag p.Q1153* SYNE2_ENST00000554584.1_Nonsense_Mutation_p.Q1153*|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Nonsense_Mutation_p.Q1153* NM_182914.2 NP_878918.2 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 1153 centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) TTCTTGTCTGCAGGCTAAACT 0.363000 7 47 0 0 0.001984 0 0 DMD 1756 broad.mit.edu 37 X 31462694 31462694 + Silent SNP A A G TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chrX:31462694A>G ENST00000357033.4 - 60 9194 c.8988T>C c.(8986-8988)aaT>aaC p.N2996N DMD_ENST00000343523.2_Silent_p.N536N|DMD_ENST00000359836.1_Silent_p.N536N|DMD_ENST00000378677.2_Silent_p.N2992N|DMD_ENST00000474231.1_Silent_p.N536N|DMD_ENST00000378707.3_Silent_p.N536N|DMD_ENST00000541735.1_Silent_p.N536N NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2 NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1 P11532 DMD_HUMAN dystrophin 2996 muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) GAGCAAGGTCATTGACGTGGC 0.463000 19 53 0 0 0.008871 0 0 MYO15A 51168 broad.mit.edu 37 17 18077192 18077192 + Missense_Mutation SNP G G A TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr17:18077192G>A ENST00000205890.5 + 65 10786 c.10448G>A c.(10447-10449)gGg>gAg p.G3483E MYO15A_ENST00000418233.3_Missense_Mutation_p.G747E|MYO15A_ENST00000451725.2_Intron|RP11-258F1.1_ENST00000577847.1_RNA NM_016239.3 NP_057323.3 Q9UKN7 MYO15_HUMAN myosin XVA 3483 FERM.|Tail. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) ATTGCGCTGGGGGACGTGGCG 0.642000 17 29 0 0 0.007413 0 0 DNAH7 56171 broad.mit.edu 37 2 196786854 196786854 + Missense_Mutation SNP G G A TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr2:196786854G>A ENST00000312428.6 - 24 3993 c.3893C>T c.(3892-3894)tCc>tTc p.S1298F NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 1298 AAA 1 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity 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 CAGCCTAGGGGAATTACCCAG 0.343000 14 24 0 0 0.004990 0 0 TMC4 147798 broad.mit.edu 37 19 54666489 54666489 + Silent SNP G G T TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr19:54666489G>T ENST00000376591.4 - 10 1568 c.1437C>A c.(1435-1437)gtC>gtA p.V479V TMC4_ENST00000301187.4_Silent_p.V473V|TMC4_ENST00000416963.1_Silent_p.V61V NM_001145303.1|NM_144686.2 NP_001138775.1|NP_653287.1 Q7Z404 TMC4_HUMAN transmembrane channel-like 4 479 integral to membrane p.V473V(1)|p.V61V(1) breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1) 22 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) CCTGGCCCAGGACAGTCTCCC 0.552000 7 50 1.12685e-05 2.06153e-05 0.004482 1 0 OR6C68 403284 broad.mit.edu 37 12 55886839 55886839 + Silent SNP C C T TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr12:55886839C>T ENST00000379662.1 + 1 693 c.693C>T c.(691-693)ttC>ttT p.F231F RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA|OR6C68_ENST00000548615.1_Silent_p.F226F A6NDL8 O6C68_HUMAN olfactory receptor, family 6, subfamily C, member 68 226 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 15 TTCTAAAATTCCCTTCTGTTC 0.358000 11 19 0 0 0.008291 0 0 ROR2 4920 broad.mit.edu 37 9 94486685 94486685 + Silent SNP G G A TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr9:94486685G>A ENST00000375708.3 - 9 2289 c.2091C>T c.(2089-2091)tcC>tcT p.S697S ROR2_ENST00000375715.1_Silent_p.S557S|ROR2_ENST00000550066.1_5'UTR NM_004560.3 NP_004551.2 Q01974 ROR2_HUMAN receptor tyrosine kinase-like orphan receptor 2 697 Protein kinase. negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 CATCCTGGTTGGAGTACCCGC 0.597000 35 8 0 0 0.003271 0 0 TNRC6C 57690 broad.mit.edu 37 17 76089158 76089158 + Missense_Mutation SNP C C T TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr17:76089158C>T ENST00000335749.4 + 15 4675 c.4106C>T c.(4105-4107)tCt>tTt p.S1369F TNRC6C_ENST00000301624.4_Missense_Mutation_p.S1372F|TNRC6C_ENST00000588061.1_Missense_Mutation_p.S1372F|TNRC6C_ENST00000544502.1_Missense_Mutation_p.S1369F|TNRC6C_ENST00000588847.1_Missense_Mutation_p.S1369F|TNRC6C_ENST00000541771.1_Missense_Mutation_p.S1372F NM_001142640.1 NP_001136112.1 Q9HCJ0 TNR6C_HUMAN trinucleotide repeat containing 6C 1372 gene silencing by RNA|regulation of translation nucleotide binding|RNA binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 40 BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973) CGTGCCAAATCTGACAGTGAT 0.502000 19 29 0 0 0.001882 0 0 GABRE 2564 broad.mit.edu 37 X 151128445 151128445 + Missense_Mutation SNP G G A TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chrX:151128445G>A ENST00000370325.1 - 6 703 c.650C>T c.(649-651)tCc>tTc p.S217F GABRE_ENST00000370328.3_Missense_Mutation_p.S217F|GABRE_ENST00000393914.3_Missense_Mutation_p.S24F P78334 GBRE_HUMAN gamma-aminobutyric acid (GABA) A receptor, epsilon 217 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1) 27 Acute lymphoblastic leukemia(192;6.56e-05) CTCAGGATAGGAAACTGGAAA 0.443000 23 39 0 0 0.002780 0 0 GRAMD1A 57655 broad.mit.edu 37 19 35500853 35500853 + Missense_Mutation SNP C C T TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr19:35500853C>T ENST00000599564.1 + 5 634 c.563C>T c.(562-564)cCc>cTc p.P188L GRAMD1A_ENST00000504615.2_5'UTR|GRAMD1A_ENST00000424536.2_Missense_Mutation_p.P101L|GRAMD1A_ENST00000411896.2_Missense_Mutation_p.P94L|GRAMD1A_ENST00000598073.1_3'UTR|GRAMD1A_ENST00000317991.5_Missense_Mutation_p.P101L Q96CP6 GRM1A_HUMAN GRAM domain containing 1A 101 integral to membrane NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1) 19 all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) AGCAAACTCCCCGAAGCAGAA 0.612000 30 57 0 0 0.001786 0 0 ATP2A3 489 broad.mit.edu 37 17 3831527 3831527 + Silent SNP G G A TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr17:3831527G>A ENST00000309890.7 - 21 3225 c.3075C>T c.(3073-3075)gcC>gcT p.A1025A ATP2A3_ENST00000397039.1_Intron|ATP2A3_ENST00000397043.3_Intron|ATP2A3_ENST00000359983.3_Silent_p.A1025A|ATP2A3_ENST00000397041.3_Intron|ATP2A3_ENST00000352011.3_Intron|ATP2A3_ENST00000397035.3_Silent_p.A1025A NM_174953.2|NM_174954.2|NM_174955.2|NM_174956.2 NP_777613.1|NP_777614.1|NP_777615.1|NP_777616.1 Q93084 AT2A3_HUMAN ATPase, Ca++ transporting, ubiquitous 0 ATP biosynthetic process|platelet activation integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 36 LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766) ATACCAAAGAGGCCAACCCGG 0.602000 20 33 0 0 0.001882 0 0 FAM81A 145773 broad.mit.edu 37 15 59752222 59752222 + Silent SNP C C T TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr15:59752222C>T ENST00000288228.5 + 3 298 c.111C>T c.(109-111)atC>atT p.I37I NM_152450.2 NP_689663.2 Q8TBF8 FA81A_HUMAN family with sequence similarity 81, member A 37 endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|skin(1) 10 AAGACAGGATCCTCTGCCATG 0.537000 8 21 0 0 0.003080 0 0 SIGLEC6 946 broad.mit.edu 37 19 52033983 52033983 + Missense_Mutation SNP G G A TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr19:52033983G>A ENST00000346477.3 - 3 726 c.658C>T c.(658-660)Cct>Tct p.P220S SIGLEC6_ENST00000391797.3_Missense_Mutation_p.P209S|SIGLEC6_ENST00000343300.4_Missense_Mutation_p.P220S|SIGLEC6_ENST00000425629.3_Missense_Mutation_p.P220S|SIGLEC6_ENST00000436458.1_Missense_Mutation_p.P184S|SIGLEC6_ENST00000359982.4_Missense_Mutation_p.P220S NM_198845.4 NP_942142.3 O43699 SIGL6_HUMAN sialic acid binding Ig-like lectin 6 220 Ig-like C2-type 1. cell adhesion|cell-cell signaling cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1) 28 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165) CCGGCTCCAGGGAACGTCACC 0.667000 35 59 0 0 0.003755 0 0 PRDM9 56979 broad.mit.edu 37 5 23526666 23526666 + Missense_Mutation SNP G G A TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr5:23526666G>A ENST00000296682.3 + 11 1651 c.1469G>A c.(1468-1470)gGa>gAa p.G490E NM_020227.2 NP_064612.2 Q9NQV7 PRDM9_HUMAN PR domain containing 9 490 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11) 172 TGTAGAGTGGGAAAAAGAATA 0.438000 HNSCC(3;0.000094) 15 19 0 0 0.002450 0 0 DDX39B 7919 broad.mit.edu 37 6 31498710 31498710 + Missense_Mutation SNP G G A TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr6:31498710G>A ENST00000376177.2 - 9 1142 c.1139C>T c.(1138-1140)cCc>cTc p.P380L DDX39B_ENST00000462421.1_5'UTR|ATP6V1G2-DDX39B_ENST00000376185.1_Intron|DDX39B_ENST00000417556.2_Intron|DDX39B_ENST00000415382.2_Intron|DDX39B_ENST00000458640.1_Intron|DDX39B_ENST00000396172.1_Intron Q13838 DX39B_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B 0 Helicase C-terminal. intronless viral mRNA export from host nucleus|RNA secondary structure unwinding|spliceosome assembly nuclear speck|spliceosomal complex|transcription export complex ATP binding|ATP-dependent protein binding|ATP-dependent RNA helicase activity|identical protein binding|U4 snRNA binding|U6 snRNA binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 19 CCACCTGGAGGGAGACAGAGG 0.512000 16 39 0 0 0.004007 0 0 OR2G2 81470 broad.mit.edu 37 1 247752125 247752125 + Missense_Mutation SNP G G A TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr1:247752125G>A ENST00000320065.1 + 1 464 c.464G>A c.(463-465)gGa>gAa p.G155E RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA NM_001001915.1 NP_001001915.1 Q8NGZ5 OR2G2_HUMAN olfactory receptor, family 2, subfamily G, member 2 155 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G155E(1) endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) TGGCTCAGTGGAATAGCCACC 0.552000 121 99 0 0 0.003610 0 0 CACNA1S 779 broad.mit.edu 37 1 201028413 201028413 + Silent SNP C C T TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr1:201028413C>T ENST00000362061.3 - 27 3655 c.3429G>A c.(3427-3429)tcG>tcA p.S1143S CACNA1S_ENST00000367338.3_Silent_p.S1143S NM_000069.2 NP_000060.2 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, alpha 1S subunit 1143 axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 102 Magnesium Sulfate(DB00653)|Verapamil(DB00661) TCATCTGCTCCGACTGGTTGT 0.572000 7 72 0 0 0.004482 0 0 EPHA8 2046 broad.mit.edu 37 1 22903209 22903209 + Missense_Mutation SNP G G A TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr1:22903209G>A ENST00000166244.3 + 3 731 c.659G>A c.(658-660)gGg>gAg p.G220E EPHA8_ENST00000538803.1_Missense_Mutation_p.G220E|EPHA8_ENST00000374644.4_Missense_Mutation_p.G220E NM_020526.3 NP_065387.1 P29322 EPHA8_HUMAN EPH receptor A8 220 Cys-rich. integral to plasma membrane ATP binding|ephrin receptor activity breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 61 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) GCAGTGACGGGGGCCGACTCG 0.637000 18 44 0 0 0.006122 0 0 MPZL2 10205 broad.mit.edu 37 11 118133342 118133342 + Missense_Mutation SNP G G A TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr11:118133342G>A ENST00000278937.2 - 3 375 c.247C>T c.(247-249)Ccc>Tcc p.P83S MPZL2_ENST00000438295.2_Missense_Mutation_p.P83S NM_005797.3 NP_005788.1 O60487 MPZL2_HUMAN myelin protein zero-like 2 83 Ig-like V-type. anatomical structure morphogenesis|homophilic cell adhesion cytoskeleton|integral to membrane endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|skin(1) 11 all_hematologic(175;0.046) Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.04e-05) GGTTGGAAGGGATCTATGTGG 0.527000 12 29 0 0 0.000978 0 0 WNK2 65268 broad.mit.edu 37 9 96030347 96030347 + Splice_Site SNP G G A TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr9:96030347G>A ENST00000297954.4 + 17 3913 c.3913_splice c.e17+1 p.V1305_splice WNK2_ENST00000395477.2_Splice_Site_p.V1305_splice|WNK2_ENST00000427277.2_Splice_Site_p.V917_splice|WNK2_ENST00000349097.3_Splice_Site_p.V917_splice|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000395475.2_3'UTR Q9Y3S1 WNK2_HUMAN WNK lysine deficient protein kinase 2 1305 intracellular protein kinase cascade ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2) 54 TCAGCAGAACGGTGAGTCTGC 0.562000 3 4 0 0 0.004672 0 0 PACS1 55690 broad.mit.edu 37 11 65984200 65984200 + Missense_Mutation SNP T T G TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr11:65984200T>G ENST00000320580.4 + 7 965 c.932T>G c.(931-933)gTg>gGg p.V311G NM_018026.3 NP_060496.2 Q6VY07 PACS1_HUMAN phosphofurin acidic cluster sorting protein 1 311 interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction cytosol protein binding RBM14/PACS1(2) breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1) 37 CTCCGGAAAGTGAAGAAGACC 0.527000 11 29 0 0 0.001368 0 0 SIGLEC10 89790 broad.mit.edu 37 19 51919318 51919318 + Silent SNP C C T TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr19:51919318C>T ENST00000353836.5 - 5 1079 c.858G>A c.(856-858)ctG>ctA p.L286L CTD-2616J11.2_ENST00000526996.1_RNA|SIGLEC10_ENST00000441969.3_Silent_p.L228L|CTD-2616J11.2_ENST00000532688.1_RNA|SIGLEC10_ENST00000525998.1_Intron|SIGLEC10_ENST00000442846.3_Intron|SIGLEC10_ENST00000439889.2_Silent_p.L228L|SIGLEC10_ENST00000339313.5_Silent_p.L286L|SIGLEC10_ENST00000432469.2_Silent_p.L203L|SIGLEC10_ENST00000436984.2_Silent_p.L238L|SIGLEC10_ENST00000356298.5_Silent_p.L286L NM_001171157.1|NM_001171158.1|NM_001171159.1 NP_001164628.1|NP_001164629.1|NP_001164630.1 Q96LC7 SIG10_HUMAN sialic acid binding Ig-like lectin 10 286 Ig-like C2-type 2. cell adhesion extracellular region|integral to membrane|plasma membrane sugar binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101) GGACCCAGCTCAGTGTGGCAG 0.657000 6 12 0 0 0.001168 0 0 HERC2P4 100289574 broad.mit.edu 37 16 32163536 32163536 + RNA SNP C C T TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr16:32163536C>T ENST00000564145.1 - 0 65 GTGCCTTCTCCAAACTCATCG 0.577000 11 122 0 0 0.001368 0 0 ZNF761 388561 broad.mit.edu 37 19 53959643 53959643 + RNA SNP C C T TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr19:53959643C>T ENST00000454407.1 + 0 2335 Q86XN6 ZN761_HUMAN zinc finger protein 761 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 30 GBM - Glioblastoma multiforme(134;0.00786) TCGTAGACTTCATACCGGAGA 0.408000 29 54 0 0 0.007291 0 0 DNMT1 1786 broad.mit.edu 37 19 10251856 10251856 + Missense_Mutation SNP C C A TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr19:10251856C>A ENST00000340748.4 - 30 3506 c.3271G>T c.(3271-3273)Gca>Tca p.A1091S DNMT1_ENST00000589538.1_5'UTR|DNMT1_ENST00000540357.1_Missense_Mutation_p.A1091S|DNMT1_ENST00000359526.4_Missense_Mutation_p.A1107S P26358 DNMT1_HUMAN DNA (cytosine-5-)-methyltransferase 1 1091 BAH 2. chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent nucleus DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06) Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035) TTGCTCTTTGCATTATAGGCC 0.453000 39 82 4.67007e-22 8.74711e-22 0.008740 1 0 OR14K1 343170 broad.mit.edu 37 1 247902852 247902852 + Missense_Mutation SNP G G A TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr1:247902852G>A ENST00000283225.2 + 1 936 c.936G>A c.(934-936)atG>atA p.M312I RP11-634B7.4_ENST00000449298.1_RNA olfactory receptor, family 14, subfamily K, member 1 NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|lung(18)|ovary(1)|urinary_tract(1) 27 gtggggtaatgaaaagatgac 0.373000 15 43 0 0 0.004007 0 0 PRSS48 345062 broad.mit.edu 37 4 152203360 152203360 + Silent SNP G G A TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr4:152203360G>A ENST00000455694.2 + 3 278 c.276G>A c.(274-276)agG>agA p.R92R SH3D19_ENST00000604030.1_Intron|PRSS48_ENST00000441586.2_Intron NM_183375.2 NP_899231.2 Q7RTY5 PRS48_HUMAN protease, serine, 48 92 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity kidney(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1) 8 GTGACTCAAGGAAACGTGTGA 0.478000 105 108 0 0 0.003610 0 0 OLFM3 118427 broad.mit.edu 37 1 102302438 102302438 + Missense_Mutation SNP T T G TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr1:102302438T>G ENST00000370103.4 - 2 426 c.213A>C c.(211-213)gaA>gaC p.E71D OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000536598.1_5'UTR|OLFM3_ENST00000338858.5_Missense_Mutation_p.E91D|OLFM3_ENST00000359814.3_Missense_Mutation_p.E91D NM_058170.2 NP_477518.2 Q96PB7 NOE3_HUMAN olfactomedin 3 91 extracellular region breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2) 43 all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189) all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145) CACCTACCTTTTCCAGTAGTT 0.443000 30 77 0 0 0.003755 0 0 LIMK1 3984 broad.mit.edu 37 7 73534932 73534932 + Silent SNP G G A TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr7:73534932G>A ENST00000418310.1 + 14 1779 c.1677G>A c.(1675-1677)aaG>aaA p.K559K LIMK1_ENST00000538333.3_Silent_p.K495K|LIMK1_ENST00000336180.2_Silent_p.K529K P53667 LIMK1_HUMAN LIM domain kinase 1 529 Protein kinase. actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension|Rho protein signal transduction cytosol|growth cone|nucleus ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 21 Lung NSC(55;0.137) ATGATGAGAAGGTGGATGTGT 0.607000 20 58 0 0 0.002299 0 0 SLC18A2 6571 broad.mit.edu 37 10 119014796 119014796 + Missense_Mutation SNP C C T TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr10:119014796C>T ENST00000298472.5 + 7 852 c.709C>T c.(709-711)Ccc>Tcc p.P237S SLC18A2_ENST00000497497.1_3'UTR NM_003054.4 NP_003045.2 Q05940 VMAT2_HUMAN solute carrier family 18 (vesicular monoamine transporter), member 2 237 neurotransmitter secretion clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction monoamine transmembrane transporter activity NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16) 29 Colorectal(252;0.19) all cancers(201;0.029) Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844) AGTGGGCCCCCCCTTCGGGAG 0.582000 21 19 0 0 0.002780 0 0 GINM1 116254 broad.mit.edu 37 6 149901054 149901054 + Missense_Mutation SNP G G A TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr6:149901054G>A ENST00000367419.5 + 5 635 c.514G>A c.(514-516)Gaa>Aaa p.E172K NM_138785.3 NP_620140.1 glycoprotein integral membrane 1 CCTCCCTTTGGAAGAAAGCAT 0.353000 34 25 0 0 0.003755 0 0 MARCO 8685 broad.mit.edu 37 2 119752007 119752007 + Missense_Mutation SNP G G A TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr2:119752007G>A ENST00000541757.1 + 18 1620 c.1240G>A c.(1240-1242)Gag>Aag p.E414K MARCO_ENST00000327097.4_Missense_Mutation_p.E492K Q9UEW3 MARCO_HUMAN macrophage receptor with collagenous structure 492 Collagen-like. cell surface receptor linked signaling pathway|innate immune response collagen|integral to plasma membrane pattern recognition receptor activity|scavenger receptor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 70 TCGGGGCACGGAGAGTACCCT 0.562000 8 49 0 0 0.003080 0 0 OR8B4 283162 broad.mit.edu 37 11 124294729 124294729 + Silent SNP G G A rs151066825 TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr11:124294729G>A ENST00000356130.3 - 1 60 c.39C>T c.(37-39)atC>atT p.I13I NM_001005196.1 NP_001005196.1 Q96RC9 OR8B4_HUMAN olfactory receptor, family 8, subfamily B, member 4 13 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1) 32 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279) ATCCCACAAGGATAAACTCAG 0.488000 6 46 0 0 0.001168 0 0 FSHR 2492 broad.mit.edu 37 2 49189984 49189984 + Missense_Mutation SNP G G A TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr2:49189984G>A ENST00000406846.2 - 10 2095 c.1976C>T c.(1975-1977)tCa>tTa p.S659L FSHR_ENST00000304421.4_Missense_Mutation_p.S633L|FSHR_ENST00000541117.1_Missense_Mutation_p.S395L|FSHR_ENST00000346173.3_Missense_Mutation_p.S597L NM_000145.3 NP_000136.2 P23945 FSHR_HUMAN follicle stimulating hormone receptor 659 female gamete generation|male gonad development|spermatogenesis integral to membrane|plasma membrane follicle-stimulating hormone receptor activity|protein binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 73 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094) GACAGTGGATGAAGTTTCTGT 0.443000 Gonadal Dysgenesis, 46 XX 7 34 0 0 0.004482 0 0 TRIM29 23650 broad.mit.edu 37 11 120008047 120008047 + Silent SNP C C T TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr11:120008047C>T ENST00000341846.5 - 1 1114 c.693G>A c.(691-693)acG>acA p.T231T NM_012101.3 NP_036233.2 Q14134 TRI29_HUMAN tripartite motif containing 29 231 transcription from RNA polymerase II promoter cytoplasm protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1) 30 Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.37e-06) AGAGCTCCATCGTCTTGCCAT 0.607000 21 35 0 0 0.001882 0 0 WBP11P1 441818 broad.mit.edu 37 18 30093416 30093416 + RNA SNP A A G TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr18:30093416A>G ENST00000567636.1 + 0 1791 NR_003558.1 CCCTTGCTGAACCCTGAGATT 0.532000 12 25 0 0 0.000978 0 0 MECOM 2122 broad.mit.edu 37 3 168833340 168833340 + Missense_Mutation SNP C C T TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr3:168833340C>T ENST00000464456.1 - 7 2956 c.1756G>A c.(1756-1758)Gat>Aat p.D586N MECOM_ENST00000460814.1_Missense_Mutation_p.D586N|MECOM_ENST00000494292.1_Missense_Mutation_p.D774N|MECOM_ENST00000472280.1_Missense_Mutation_p.D587N|MECOM_ENST00000433243.2_Missense_Mutation_p.D587N|MECOM_ENST00000392736.3_Missense_Mutation_p.D586N|MECOM_ENST00000264674.3_Missense_Mutation_p.D651N|MECOM_ENST00000468789.1_Missense_Mutation_p.D586N NM_001164000.1 NP_001157472.1 Q13465 MDS1_HUMAN MDS1 and EVI1 complex locus 0 sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 85 ATACTTAGATCCAGGGGCTGG 0.532000 16 43 0 0 0.008871 0 0 BCL11A 53335 broad.mit.edu 37 2 60688755 60688755 + Missense_Mutation SNP G G A rs138166869 TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr2:60688755G>A ENST00000335712.6 - 4 1519 c.1292C>T c.(1291-1293)tCg>tTg p.S431L BCL11A_ENST00000537768.1_Missense_Mutation_p.S100L|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000538214.1_Missense_Mutation_p.S397L|BCL11A_ENST00000358510.4_Missense_Mutation_p.S397L|BCL11A_ENST00000356842.4_Missense_Mutation_p.S431L NM_022893.3 NP_075044.2 Q9H165 BC11A_HUMAN B-cell CLL/lymphoma 11A (zinc finger protein) 431 negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding p.S431L(1) NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 59 LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199) CATGGGGGACGATTTGTGCAT 0.652000 T IGH@ B-CLL 175 262 0 0 0.003610 0 0 SLC14A2 8170 broad.mit.edu 37 18 43247899 43247899 + Missense_Mutation SNP C C T TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr18:43247899C>T ENST00000255226.6 + 14 2635 c.1819C>T c.(1819-1821)Ctc>Ttc p.L607F SLC14A2_ENST00000586448.1_Missense_Mutation_p.L607F|SLC14A2_ENST00000589658.1_Missense_Mutation_p.L84F NM_007163.3 NP_009094.3 Q15849 UT2_HUMAN solute carrier family 14 (urea transporter), member 2 607 apical plasma membrane|integral to membrane|membrane fraction protein binding|urea transmembrane transporter activity NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 CATCCTCGGCCTCTTCATCCA 0.557000 28 71 0 0 0.006320 0 0 GUCY1A2 2977 broad.mit.edu 37 11 106681192 106681192 + Missense_Mutation SNP T T G TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr11:106681192T>G ENST00000526355.1 - 5 1687 c.1219A>C c.(1219-1221)Aaa>Caa p.K407Q GUCY1A2_ENST00000282249.2_Missense_Mutation_p.K407Q|GUCY1A2_ENST00000347596.2_Missense_Mutation_p.K428Q NM_000855.2 NP_000846.1 P33402 GCYA2_HUMAN guanylate cyclase 1, soluble, alpha 2 407 intracellular signal transduction|platelet activation cytoplasm GTP binding|guanylate cyclase activity|heme binding breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 74 all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068) BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476) ATTTGTCCTTTGACTTCCATC 0.358000 11 36 0 0 0.002450 0 0 PKP2 5318 broad.mit.edu 37 12 32949190 32949190 + Missense_Mutation SNP G G C TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr12:32949190G>C ENST00000340811.4 - 11 2318 c.2210C>G c.(2209-2211)aCa>aGa p.T737R PKP2_ENST00000070846.6_Missense_Mutation_p.T781R NM_001005242.2 NP_001005242.2 Q99959 PKP2_HUMAN plakophilin 2 781 cell-cell adhesion desmosome|integral to membrane|nucleus binding NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1) 50 Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239) ACTCGGGACTGTGTCAGGAAT 0.378000 8 23 0 0 0.004482 0 0 PRAMEF1 65121 broad.mit.edu 37 1 12856060 12856060 + Missense_Mutation SNP C C T TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr1:12856060C>T ENST00000332296.7 + 4 1443 c.1340C>T c.(1339-1341)cCc>cTc p.P447L PRAMEF1_ENST00000400814.3_Missense_Mutation_p.P202L NM_023013.2 NP_075389.1 O95521 PRAM1_HUMAN PRAME family member 1 447 cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 35 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GTCAGGCAGCCCAAGAGGATC 0.572000 54 319 0 0 0.003610 0 0 IRS1 3667 broad.mit.edu 37 2 227661962 227661962 + Missense_Mutation SNP G G A TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr2:227661962G>A ENST00000305123.4 - 1 2513 c.1493C>T c.(1492-1494)aCa>aTa p.T498I NM_005544.2 NP_005535.1 P35568 IRS1_HUMAN insulin receptor substrate 1 498 fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity caveola|cytosol|insulin receptor complex|microsome|nucleus insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2) 69 Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23) Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137) GCCCAAGCCTGTTCCTGGGGT 0.602000 OREG0015248 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 21 55 0 0 0.008871 0 0 OR3A1 4994 broad.mit.edu 37 17 3195591 3195591 + Missense_Mutation SNP G G A TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr17:3195591G>A ENST00000323404.1 - 1 285 c.286C>T c.(286-288)Ccc>Tcc p.P96S RP11-64J4.2_ENST00000573491.1_RNA NM_002550.2 NP_002541.2 P47881 OR3A1_HUMAN olfactory receptor, family 3, subfamily A, member 1 96 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 20 GCCCCACAGGGAACTGCACGC 0.557000 22 47 0 0 0.003330 0 0 ATP7A 538 broad.mit.edu 37 X 77245339 77245339 + Silent SNP C C T TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chrX:77245339C>T ENST00000341514.6 + 4 1376 c.1221C>T c.(1219-1221)tcC>tcT p.S407S ATP7A_ENST00000343533.5_Silent_p.S407S|ATP7A_ENST00000350425.4_Intron NM_000052.5 NP_000043.3 Q04656 ATP7A_HUMAN ATPase, Cu++ transporting, alpha polypeptide 407 HMA 4. ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1) 53 GTGTAAAATCCATACGAGTCT 0.418000 56 71 0 0 0.003610 0 0 UGT2B4 7363 broad.mit.edu 37 4 70361563 70361563 + Missense_Mutation SNP G G A TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr4:70361563G>A ENST00000305107.6 - 1 63 c.17C>T c.(16-18)aCt>aTt p.T6I UGT2B4_ENST00000381096.3_Intron|UGT2B4_ENST00000512583.1_Missense_Mutation_p.T6I|UGT2B4_ENST00000506580.1_5'UTR NM_021139.2 NP_066962.2 P06133 UD2B4_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B4 6 estrogen catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 47 AAGAGCTGAAGTCCATTTCAT 0.443000 54 71 0 0 0.003610 0 0 PNLIPRP3 119548 broad.mit.edu 37 10 118225585 118225585 + Missense_Mutation SNP A A G TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr10:118225585A>G ENST00000369230.3 + 8 978 c.832A>G c.(832-834)Aac>Gac p.N278D NM_001011709.2 NP_001011709.2 Q17RR3 LIPR3_HUMAN pancreatic lipase-related protein 3 278 lipid catabolic process extracellular region triglyceride lipase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 50 all cancers(201;0.0131) CTTTGACTGTAACCATGCCCG 0.338000 28 28 0 0 0.008361 0 0 TMC7 79905 broad.mit.edu 37 16 19047031 19047031 + Silent SNP G G A TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr16:19047031G>A ENST00000421369.3 + 7 1119 c.561G>A c.(559-561)cgG>cgA p.R187R TMC7_ENST00000561963.1_3'UTR|TMC7_ENST00000569532.1_Silent_p.R297R|TMC7_ENST00000304381.5_Silent_p.R297R NM_001160364.1 NP_001153836.1 Q7Z402 TMC7_HUMAN transmembrane channel-like 7 297 integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 28 ACCTGATTCGGAGTGAGGAGC 0.483000 26 58 0 0 0.007291 0 0 KLHL40 131377 broad.mit.edu 37 3 42733374 42733374 + Splice_Site SNP G G A TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr3:42733374G>A ENST00000287777.4 + 6 1855 c.1754_splice c.e6-1 p.R585_splice NM_152393.2 NP_689606.2 kelch-like family member 40 TCATCCCCAGGTATAACGAGG 0.592000 33 51 0 0 0.004289 0 0 CYP2C19 1557 broad.mit.edu 37 10 96540287 96540287 + Silent SNP C C T TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr10:96540287C>T ENST00000371321.3 + 4 595 c.513C>T c.(511-513)ggC>ggT p.G171G CYP2C19_ENST00000464755.1_3'UTR NM_000769.1 NP_000760.1 P33261 CP2CJ_HUMAN cytochrome P450, family 2, subfamily C, polypeptide 19 171 exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 43 Colorectal(252;0.09) all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838) Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582) TCATCCTGGGCTGTGCTCCCT 0.328000 54 44 0 0 0.003610 0 0 LIPF 8513 broad.mit.edu 37 10 90435346 90435346 + Missense_Mutation SNP C C T rs138641581 byFrequency TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr10:90435346C>T ENST00000394375.3 + 9 963 c.850C>T c.(850-852)Cgc>Tgc p.R284C LIPF_ENST00000496797.1_3'UTR|LIPF_ENST00000355843.2_Missense_Mutation_p.R241C|LIPF_ENST00000238983.4_Missense_Mutation_p.R274C NM_001198829.1 NP_001185758.1 P07098 LIPG_HUMAN lipase, gastric 274 lipid catabolic process|triglyceride metabolic process extracellular region lipid binding|triglyceride lipase activity NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6) 13 Colorectal(252;0.0161) Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05) TTTCTAGAGTCGCTTGGATGT 0.333000 17 12 0 0 0.007413 0 0 SPRYD3 84926 broad.mit.edu 37 12 53460414 53460414 + Missense_Mutation SNP C C T TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr12:53460414C>T ENST00000301463.4 - 9 1050 c.964G>A c.(964-966)Ggg>Agg p.G322R SPRYD3_ENST00000547837.1_Missense_Mutation_p.G359R NM_032840.2 NP_116229.1 Q8NCJ5 SPRY3_HUMAN SPRY domain containing 3 322 central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 ATGATGTCCCCTTTGTAACAG 0.587000 OREG0021856 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 9 0 0 0.004482 0 0 CACNA1S 779 broad.mit.edu 37 1 201063099 201063099 + Missense_Mutation SNP C C T TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr1:201063099C>T ENST00000362061.3 - 3 535 c.309G>A c.(307-309)atG>atA p.M103I CACNA1S_ENST00000367338.3_Missense_Mutation_p.M103I NM_000069.2 NP_000060.2 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, alpha 1S subunit 103 axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 102 Magnesium Sulfate(DB00653)|Verapamil(DB00661) CAATGATCTTCATGGCGGCTT 0.532000 20 59 0 0 0.003330 0 0 WNT7A 7476 broad.mit.edu 37 3 13916511 13916511 + Silent SNP G G A TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr3:13916511G>A ENST00000285018.4 - 2 535 c.231C>T c.(229-231)ttC>ttT p.F77F WNT7A_ENST00000497808.1_5'UTR NM_004625.3 NP_004616.2 O00755 WNT7A_HUMAN wingless-type MMTV integration site family, member 7A 77 activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 24 GGCCATTGCGGAACTGAAACT 0.607000 18 28 0 0 0.001882 0 0 SLC18A2 6571 broad.mit.edu 37 10 119014797 119014797 + Missense_Mutation SNP C C T TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr10:119014797C>T ENST00000298472.5 + 7 853 c.710C>T c.(709-711)cCc>cTc p.P237L SLC18A2_ENST00000497497.1_3'UTR NM_003054.4 NP_003045.2 Q05940 VMAT2_HUMAN solute carrier family 18 (vesicular monoamine transporter), member 2 237 neurotransmitter secretion clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction monoamine transmembrane transporter activity NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16) 29 Colorectal(252;0.19) all cancers(201;0.029) Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844) GTGGGCCCCCCCTTCGGGAGT 0.587000 20 20 0 0 0.001882 0 0 DDX42 11325 broad.mit.edu 37 17 61890605 61890605 + Missense_Mutation SNP C C T TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr17:61890605C>T ENST00000578681.1 + 16 2294 c.1693C>T c.(1693-1695)Cct>Tct p.P565S DDX42_ENST00000583590.1_Missense_Mutation_p.P565S|DDX42_ENST00000457800.2_Missense_Mutation_p.P565S|DDX42_ENST00000389924.2_Missense_Mutation_p.P565S|DDX42_ENST00000359353.5_Missense_Mutation_p.P446S NM_007372.2 NP_031398.2 Q86XP3 DDX42_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 42 565 Helicase C-terminal. protein localization|regulation of anti-apoptosis Cajal body|cytoplasm|nuclear speck ATP binding|ATP-dependent helicase activity|protein binding|RNA binding NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3) 46 TCTGGACATTCCTTCAATTAA 0.428000 13 25 0 0 0.001855 0 0 FBN1 2200 broad.mit.edu 37 15 48704822 48704822 + Missense_Mutation SNP G G A TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr15:48704822G>A ENST00000316623.5 - 65 8625 c.8170C>T c.(8170-8172)Ccc>Tcc p.P2724S FBN1_ENST00000561429.1_5'UTR NM_000138.4 NP_000129.3 P35555 FBN1_HUMAN fibrillin 1 2724 heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 139 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) CCCCGTTTGGGGTAGCCATTG 0.517000 56 115 0 0 0.003610 0 0 RENBP 5973 broad.mit.edu 37 X 153206981 153206981 + Missense_Mutation SNP G G A TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chrX:153206981G>A ENST00000393700.3 - 8 975 c.895C>T c.(895-897)Cac>Tac p.H299Y RENBP_ENST00000412763.1_3'UTR|RENBP_ENST00000369997.3_Missense_Mutation_p.H285Y NM_002910.5 NP_002901.2 P51606 RENBP_HUMAN renin binding protein 299 mannose metabolic process|regulation of blood pressure endopeptidase inhibitor activity|mannose-6-phosphate isomerase activity|N-acylglucosamine 2-epimerase activity breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 20 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) N-Acetyl-D-glucosamine(DB00141) AGGCCTCCGTGGTCAGGGTCC 0.572000 37 103 0 0 0.005524 0 0 CSMD1 64478 broad.mit.edu 37 8 2876166 2876166 + Missense_Mutation SNP G G A TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr8:2876166G>A ENST00000520002.1 - 53 8420 c.7865C>T c.(7864-7866)tCg>tTg p.S2622L CSMD1_ENST00000542608.1_Intron|CSMD1_ENST00000602557.1_Missense_Mutation_p.S2622L|CSMD1_ENST00000537824.1_Missense_Mutation_p.S2621L|CSMD1_ENST00000400186.3_Intron|CSMD1_ENST00000602723.1_Intron Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 2622 Sushi 17. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) GCTTCCACACGAGATAACTAG 0.393000 29 76 0 0 0.007291 0 0 OR5P2 120065 broad.mit.edu 37 11 7817644 7817644 + Missense_Mutation SNP G G T TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr11:7817644G>T ENST00000329434.2 - 1 876 c.846C>A c.(844-846)aaC>aaA p.N282K RP11-35J10.5_ENST00000527565.1_lincRNA NM_153444.1 NP_703145.1 Q8WZ92 OR5P2_HUMAN olfactory receptor, family 5, subfamily P, member 2 282 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4) 22 Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) AGATCAGGGGGTTCAACATGG 0.423000 12 67 1.08611e-07 1.99472e-07 0.000978 1 0 KANK2 25959 broad.mit.edu 37 19 11289247 11289247 + Missense_Mutation SNP C C T TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr19:11289247C>T ENST00000432929.2 - 5 1759 c.1399G>A c.(1399-1401)Gag>Aag p.E467K KANK2_ENST00000586659.1_Missense_Mutation_p.E467K|KANK2_ENST00000589359.1_Missense_Mutation_p.E467K|KANK2_ENST00000355150.5_Missense_Mutation_p.E467K|KANK2_ENST00000589894.1_Missense_Mutation_p.E467K NM_001136191.2 NP_001129663.1 Q63ZY3 KANK2_HUMAN KN motif and ankyrin repeat domains 2 467 endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 CCGGCCTCCTCGGACTCTTGG 0.682000 11 32 0 0 0.002450 0 0 SLC9A5 6553 broad.mit.edu 37 16 67293840 67293840 + Silent SNP G G A TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr16:67293840G>A ENST00000299798.11 + 12 1898 c.1833G>A c.(1831-1833)ccG>ccA p.P611P NM_004594.2 NP_004585.1 Q14940 SL9A5_HUMAN solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5 611 regulation of pH integral to membrane|plasma membrane sodium:hydrogen antiporter activity breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1) 27 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116) TCTACAAGCCGCGCCGTAGGG 0.597000 5 16 0 0 0.003080 0 0 BRSK2 9024 broad.mit.edu 37 11 1471968 1471968 + Missense_Mutation SNP A A G TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr11:1471968A>G ENST00000308219.9 + 14 1825 c.1439A>G c.(1438-1440)aAc>aGc p.N480S BRSK2_ENST00000526678.1_Missense_Mutation_p.N502S|BRSK2_ENST00000528710.1_Missense_Mutation_p.N420S|BRSK2_ENST00000382179.1_Missense_Mutation_p.N526S|BRSK2_ENST00000528841.1_Missense_Mutation_p.N480S|BRSK2_ENST00000544817.1_Missense_Mutation_p.N175S|BRSK2_ENST00000308230.5_Missense_Mutation_p.N502S|BRSK2_ENST00000531197.1_Missense_Mutation_p.N480S NM_001256627.1|NM_003957.3 NP_001243556.1|NP_003948.2 Q8IWQ3 BRSK2_HUMAN BR serine/threonine kinase 2 480 establishment of cell polarity|neuron differentiation ATP binding|magnesium ion binding|protein serine/threonine kinase activity endometrium(4)|large_intestine(1)|lung(5) 10 all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842) GCGCGGCTCAACTCCATCAAG 0.687000 5 13 0 0 0.000602 0 0 DOK6 220164 broad.mit.edu 37 18 67345018 67345018 + Missense_Mutation SNP G G A TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr18:67345018G>A ENST00000382713.5 + 4 528 c.338G>A c.(337-339)gGg>gAg p.G113E DOK6_ENST00000584435.1_3'UTR NM_152721.5 NP_689934.2 Q6PKX4 DOK6_HUMAN docking protein 6 113 insulin receptor binding central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 20 Colorectal(73;0.083)|Esophageal squamous(42;0.131) GAGTGTCTGGGGACCAGGCTC 0.557000 15 61 0 0 0.003163 0 0 G6PC 2538 broad.mit.edu 37 17 41061429 41061429 + Missense_Mutation SNP C C T TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr17:41061429C>T ENST00000592383.1 + 4 559 c.479C>T c.(478-480)cCt>cTt p.P160L G6PC_ENST00000585489.1_Intron|G6PC_ENST00000253801.2_Silent_p.L186L NM_001270397.1 NP_001257326.1 P35575 G6PC_HUMAN glucose-6-phosphatase, catalytic subunit 0 gluconeogenesis|glucose homeostasis|transmembrane transport integral to endoplasmic reticulum membrane glucose-6-phosphatase activity|phosphate binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1) 23 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.113) TGCTGGAGTCCTGTCAGGTAT 0.498000 42 98 0 0 0.007835 0 0 TMTC2 160335 broad.mit.edu 37 12 83290317 83290317 + Missense_Mutation SNP A A G TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr12:83290317A>G ENST00000549919.1 + 4 3162 c.1357A>G c.(1357-1359)Aca>Gca p.T453A TMTC2_ENST00000321196.3_Missense_Mutation_p.T459A|TMTC2_ENST00000548305.1_Missense_Mutation_p.T459A Q8N394 TMTC2_HUMAN transmembrane and tetratricopeptide repeat containing 2 459 endoplasmic reticulum|integral to membrane binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1) 39 TTTTTATGCTACAGCTACACT 0.413000 22 19 0 0 0.001523 0 0 CDC20B 166979 broad.mit.edu 37 5 54420689 54420689 + Missense_Mutation SNP G G A TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr5:54420689G>A ENST00000296733.1 - 9 1331 c.1157C>T c.(1156-1158)cCa>cTa p.P386L CDC20B_ENST00000334206.5_3'UTR|CDC20B_ENST00000322374.6_Missense_Mutation_p.P386L|CDC20B_ENST00000381375.2_Missense_Mutation_p.P386L NM_001170402.1|NM_152623.2 NP_001163873.1|NP_689836.2 Q86Y33 CD20B_HUMAN cell division cycle 20B 386 kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 19 Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194) LUSC - Lung squamous cell carcinoma(15;0.225) ACTGGCACCTGGATCGTGGGG 0.542000 28 47 0 0 0.005443 0 0 SIRPD 128646 broad.mit.edu 37 20 1532376 1532376 + Missense_Mutation SNP C C T TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr20:1532376C>T ENST00000381623.3 - 2 1571 c.382G>A c.(382-384)Gag>Aag p.E128K SIRPD_ENST00000381621.1_Missense_Mutation_p.E128K Q9H106 SIRPD_HUMAN signal-regulatory protein delta 128 Ig-like V-type. extracellular region breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1) 15 GATTGGTACTCCTTGATAGCT 0.478000 37 33 0 0 0.004878 0 0 SCN11A 11280 broad.mit.edu 37 3 38889226 38889226 + Missense_Mutation SNP C C T TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr3:38889226C>T ENST00000302328.3 - 26 4533 c.4335G>A c.(4333-4335)atG>atA p.M1445I SCN11A_ENST00000450244.1_Missense_Mutation_p.M1445I|SCN11A_ENST00000456224.3_Missense_Mutation_p.M1407I NM_014139.2 NP_054858.2 Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 1445 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) AGGTAGAAATCATTGTACCTC 0.507000 4 10 0 0 0.000248 0 0 EZH1 2145 broad.mit.edu 37 17 40858189 40858189 + Missense_Mutation SNP G G A TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr17:40858189G>A ENST00000428826.2 - 16 1796 c.1675C>T c.(1675-1677)Cct>Tct p.P559S EZH1_ENST00000592743.1_Missense_Mutation_p.P559S|EZH1_ENST00000435174.1_Missense_Mutation_p.P420S|EZH1_ENST00000415827.2_Missense_Mutation_p.P550S|EZH1_ENST00000590078.1_Missense_Mutation_p.P489S|EZH1_ENST00000590783.1_Intron|EZH1_ENST00000585893.1_Missense_Mutation_p.P519S Q92800 EZH1_HUMAN enhancer of zeste homolog 1 (Drosophila) 559 Cys-rich. anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent ESC/E(Z) complex chromatin binding|DNA binding breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2) 27 Breast(137;0.00104) BRCA - Breast invasive adenocarcinoma(366;0.0784) CGACAGCCAGGGAAACGATTC 0.507000 23 42 0 0 0.003330 0 0 ZNF335 63925 broad.mit.edu 37 20 44577618 44577618 + Missense_Mutation SNP C C T TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr20:44577618C>T ENST00000322927.2 - 28 4103 c.4003G>A c.(4003-4005)Gac>Aac p.D1335N ZNF335_ENST00000426788.1_Missense_Mutation_p.D1180N NM_022095.3 NP_071378.1 Q9H4Z2 ZN335_HUMAN zinc finger protein 335 1335 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 51 Myeloproliferative disorder(115;0.0122) GTGATGACGTCGTACTCGATG 0.617000 13 90 0 0 0.002450 0 0 KCNH7 90134 broad.mit.edu 37 2 163374610 163374610 + Silent SNP G G A TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr2:163374610G>A ENST00000332142.5 - 4 621 c.522C>T c.(520-522)tcC>tcT p.S174S KCNH7_ENST00000477019.1_5'UTR|KCNH7_ENST00000328032.4_Silent_p.S174S NM_033272.3 NP_150375.2 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 7 174 regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 108 Ibutilide(DB00308) CTTGTGGTAAGGACTGCTTTC 0.403000 29 47 0 0 0.008361 0 0 SMG5 23381 broad.mit.edu 37 1 156233339 156233339 + Silent SNP C C T TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr1:156233339C>T ENST00000361813.5 - 13 2022 c.1878G>A c.(1876-1878)tcG>tcA p.S626S SMG5_ENST00000368267.4_Intron NM_015327.2 NP_056142.2 Q9UPR3 SMG5_HUMAN SMG5 nonsense mediated mRNA decay factor 626 mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation cytoplasm|nucleus protein phosphatase 2A binding NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 48 Hepatocellular(266;0.158) CACTCCCCTCCGACTCAGAGC 0.567000 42 55 0 0 0.002522 0 0 TP53I13 90313 broad.mit.edu 37 17 27899688 27899688 + Frame_Shift_Del DEL A A - TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chr17:27899688delA ENST00000301057.7 + 6 1157 c.1042delA c.(1042-1044)cafs p.T348fs RP11-68I3.2_ENST00000581474.1_RNA NM_138349.2 NP_612358.3 Q8NBR0 P5I13_HUMAN tumor protein p53 inducible protein 13 348 cytoplasm|integral to membrane|plasma membrane NS(1)|kidney(1)|lung(1)|urinary_tract(1) 4 READ - Rectum adenocarcinoma(3;0.236) CTGGGGGCCCACAGCGGACAG 0.692 2 4 --- --- --- --- GAGE2D 729408 broad.mit.edu 37 X 49208295 49208296 + In_Frame_Ins INS - - TAT TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chrX:49208295_49208296insTAT ENST00000404720.2 + 2 96_97 c.24_25insTAT c.(22-27)acatcg>acTATatcg p.8_9TS>TIS NM_001098407.1|NM_012196.1 NP_001091877.1|NP_036328.1 G antigen 2D GAAGATCGACCTATCGGCCTAG 0.465 4 5 --- --- --- --- NAP1L3 4675 broad.mit.edu 37 X 92927823 92927823 + Frame_Shift_Del DEL C C - TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx e897c333-8533-44a3-9bd2-16c54320d5e5 033be73d-7639-4eb3-98d7-88eadb8633b8 g.chrX:92927823delC ENST00000373079.3 - 1 744 c.481delG c.(481-483)aafs p.E161fs NAP1L3_ENST00000475430.1_5'UTR NM_004538.5 NP_004529.2 Q99457 NP1L3_HUMAN nucleosome assembly protein 1-like 3 161 Glu-rich. nucleosome assembly chromatin assembly complex haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 34 CATTCACATTCTTCTTCTGTA 0.433 11 56 --- --- --- ---