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 POLR1A 25885 broad.mit.edu 37 2 86258591 86258591 + Silent SNP C C G TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr2:86258591C>G ENST00000263857.6 - 30 4818 c.4440G>C c.(4438-4440)ctG>ctC p.L1480L POLR1A_ENST00000409681.1_Intron O95602 RPA1_HUMAN polymerase (RNA) I polypeptide A, 194kDa 1480 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter DNA-directed RNA polymerase I complex|nucleoplasm DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 63 GGGGCTGCGTCAGGAGGGCGG 0.642000 36 111 0 0 0.819951 0 0 CBX1 10951 broad.mit.edu 37 17 46154251 46154251 + Missense_Mutation SNP A A G TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr17:46154251A>G ENST00000393408.3 - 2 596 c.116T>C c.(115-117)cTc>cCc p.L39P CBX1_ENST00000225603.4_Missense_Mutation_p.L39P|CBX1_ENST00000495350.1_Missense_Mutation_p.L39P NM_006807.4 NP_006798.1 P83916 CBX1_HUMAN chromobox homolog 1 39 Chromo 1. nuclear heterochromatin|nucleoplasm|spindle chromatin binding|enzyme binding breast(1)|central_nervous_system(1)|kidney(1)|prostate(1) 4 CCACTTTAGGAGGTACTCCAC 0.463000 3 146 0 0 0.150653 0 0 SVOPL 136306 broad.mit.edu 37 7 138310792 138310792 + Silent SNP G G A TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr7:138310792G>A ENST00000421622.1 - 9 1033 c.825C>T c.(823-825)gcC>gcT p.A275A SVOPL_ENST00000419765.3_Silent_p.A395A|SVOPL_ENST00000463557.1_5'UTR|SVOPL_ENST00000288513.5_Silent_p.A243A|SVOPL_ENST00000436657.1_Silent_p.A243A Q8N434 SVOPL_HUMAN SVOP-like 395 integral to membrane transmembrane transporter activity NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 19 CAATCAGGCCGGCACTAGAAA 0.502000 3 38 0 0 0.115264 0 0 CAMSAP3 57662 broad.mit.edu 37 19 7675446 7675446 + Missense_Mutation SNP C C T TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr19:7675446C>T ENST00000446248.2 + 8 1027 c.926C>T c.(925-927)cCt>cTt p.P309L CAMSAP3_ENST00000160298.4_Missense_Mutation_p.P282L NM_001080429.2 NP_001073898.1 Q9P1Y5 CAMP3_HUMAN calmodulin regulated spectrin-associated protein family, member 3 282 CH. epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance cytoplasm|microtubule|zonula adherens microtubule minus-end binding cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2) 19 TCTCGCCTTCCTCGTGGCTGC 0.642000 63 164 0 0 0.870114 0 0 ELF2 1998 broad.mit.edu 37 4 139993174 139993174 + Silent SNP A A C TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr4:139993174A>C ENST00000379550.1 - 5 577 c.372T>G c.(370-372)ccT>ccG p.P124P ELF2_ENST00000358635.3_Silent_p.P64P|ELF2_ENST00000394235.2_Intron|ELF2_ENST00000265495.4_Intron|ELF2_ENST00000379549.2_Silent_p.P64P|ELF2_ENST00000510408.1_Intron Q15723 ELF2_HUMAN E74-like factor 2 (ets domain transcription factor) 124 negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter cytoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|ovary(1)|skin(1) 19 all_hematologic(180;0.162) TTGATACACAAGGAGGAACAA 0.388000 26 57 0 0 0.681144 0 0 PQLC2 54896 broad.mit.edu 37 1 19653755 19653755 + Missense_Mutation SNP C C G TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr1:19653755C>G ENST00000375153.3 + 7 1293 c.653C>G c.(652-654)tCt>tGt p.S218C PQLC2_ENST00000400548.2_Missense_Mutation_p.S153C|PQLC2_ENST00000375155.3_Missense_Mutation_p.S218C NM_001040125.1 NP_001035214.1 Q6ZP29 PQLC2_HUMAN PQ loop repeat containing 2 218 PQ-loop 2. integral to membrane haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1) 10 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;1.89e-05)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) ATCTCCTACTCTCTGTTCGCG 0.602000 9 81 0 0 0.387290 0 0 CYTH4 27128 broad.mit.edu 37 22 37699360 37699360 + Missense_Mutation SNP C C T TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr22:37699360C>T ENST00000248901.6 + 8 800 c.613C>T c.(613-615)Cgg>Tgg p.R205W NM_013385.3 NP_037517.1 Q9UIA0 CYH4_HUMAN cytohesin 4 205 SEC7. regulation of ARF protein signal transduction|regulation of cell adhesion cytoplasm|plasma membrane ARF guanyl-nucleotide exchange factor activity breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1) 15 TCCCAACGTCCGGGACAGGCC 0.612000 9 52 0 0 0.335167 0 0 SLFN13 146857 broad.mit.edu 37 17 33769076 33769076 + Silent SNP G G C TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr17:33769076G>C ENST00000285013.6 - 5 1703 c.1428C>G c.(1426-1428)ctC>ctG p.L476L SLFN13_ENST00000533791.1_Silent_p.L476L|SLFN13_ENST00000534689.1_Silent_p.L158L|SLFN13_ENST00000542635.1_Silent_p.L476L|SLFN13_ENST00000526861.1_Silent_p.L476L|SLFN13_ENST00000360502.2_Silent_p.L158L NM_144682.5 NP_653283.3 Q68D06 SLN13_HUMAN schlafen family member 13 476 intracellular ATP binding NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1) 31 UCEC - Uterine corpus endometrioid carcinoma (308;0.0185) CCTGCTCCCTGAGAATGGTGT 0.557000 14 100 0 0 0.479597 0 0 PTPN3 5774 broad.mit.edu 37 9 112145729 112145729 + Nonsense_Mutation SNP G G A TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr9:112145729G>A ENST00000412145.1 - 18 4516 c.1963C>T c.(1963-1965)Cga>Tga p.R655* PTPN3_ENST00000394827.3_Nonsense_Mutation_p.R254*|PTPN3_ENST00000446349.1_Nonsense_Mutation_p.R610*|PTPN3_ENST00000374541.2_Nonsense_Mutation_p.R786*|PTPN3_ENST00000262539.3_Nonsense_Mutation_p.R632* NM_001145369.1|NM_001145371.1 NP_001138841.1|NP_001138843.1 P26045 PTN3_HUMAN protein tyrosine phosphatase, non-receptor type 3 786 Tyrosine-protein phosphatase. negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle cytoplasm|cytoskeleton|internal side of plasma membrane ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 AGCATTTCTCGGGACACATAG 0.602000 45 73 0 0 0.853193 0 0 LYST 1130 broad.mit.edu 37 1 235952067 235952067 + Missense_Mutation SNP G G A TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr1:235952067G>A ENST00000389794.3 - 13 4796 c.4622C>T c.(4621-4623)tCa>tTa p.S1541L LYST_ENST00000389793.2_Missense_Mutation_p.S1541L|LYST_ENST00000536965.1_3'UTR Q99698 LYST_HUMAN lysosomal trafficking regulator 1541 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 162 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) GGATCCCAGTGAAATTATATG 0.408000 11 20 0 0 0.361761 0 0 CASC5 57082 broad.mit.edu 37 15 40914878 40914878 + Missense_Mutation SNP G G C TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr15:40914878G>C ENST00000346991.5 + 11 2884 c.2494G>C c.(2494-2496)Gaa>Caa p.E832Q CASC5_ENST00000399668.2_Missense_Mutation_p.E806Q|CASC5_ENST00000527044.1_3'UTR Q8NG31 CASC5_HUMAN cancer susceptibility candidate 5 832 acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm protein binding NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 57 all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211) TGTAAAAGTTGAAAAATGTGG 0.358000 6 17 0 0 0.248553 0 0 CDKN2B 1030 broad.mit.edu 37 9 22006036 22006036 + Missense_Mutation SNP G G A TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr9:22006036G>A ENST00000276925.6 - 2 776 c.367C>T c.(367-369)Cgg>Tgg p.R123W CDKN2B_ENST00000380142.4_3'UTR|CDKN2B-AS1_ENST00000468603.2_RNA|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2B-AS1_ENST00000584020.1_RNA|CDKN2B-AS1_ENST00000580576.1_RNA|CDKN2B-AS1_ENST00000581051.1_RNA|CDKN2B-AS1_ENST00000584637.1_RNA|CDKN2B-AS1_ENST00000580467.1_RNA|CDKN2B-AS1_ENST00000585267.1_RNA|CDKN2B-AS1_ENST00000577551.1_RNA|CDKN2B-AS1_ENST00000582301.1_RNA|CDKN2B-AS1_ENST00000584816.1_RNA|CDKN2B-AS1_ENST00000455933.2_RNA|CDKN2B-AS1_ENST00000428597.1_RNA|CDKN2B-AS1_ENST00000584351.1_RNA|CDKN2B-AS1_ENST00000583719.1_RNA|CDKN2B-AS1_ENST00000582072.1_RNA NM_004936.3|NM_078487.2 NP_004927.2|NP_511042.1 P42772 CDN2B_HUMAN cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4) 123 cell cycle arrest|cellular response to nutrient|G1 phase of mitotic cell cycle|G2/M transition of mitotic cell cycle|megakaryocyte differentiation|mitotic cell cycle G1/S transition checkpoint|negative regulation of epithelial cell proliferation|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of cyclin-dependent protein kinase activity cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|protein kinase binding p.0(1)|p.0?(1) lung(2) 2 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;1.31e-280)|Lung NSC(2;2.28e-131)|all_lung(2;2.11e-123)|Glioma(2;5.66e-57)|all_neural(2;3.05e-50)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;8.01e-33)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00369)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;3.29e-71)|Epithelial(2;9.08e-60)|LUSC - Lung squamous cell carcinoma(2;5.8e-46)|LUAD - Lung adenocarcinoma(2;1.43e-25)|BRCA - Breast invasive adenocarcinoma(2;5.37e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;6.92e-07)|KIRC - Kidney renal clear cell carcinoma(2;8.63e-07)|OV - Ovarian serous cystadenocarcinoma(39;0.014)|COAD - Colon adenocarcinoma(8;0.143) CGGTGGCCCCGCTCCTCGGCC 0.682000 6 14 0 0 0.278610 0 0 POLR1A 25885 broad.mit.edu 37 2 86258743 86258743 + Nonsense_Mutation SNP C C A TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr2:86258743C>A ENST00000263857.6 - 30 4666 c.4288G>T c.(4288-4290)Gag>Tag p.E1430* POLR1A_ENST00000409681.1_Nonsense_Mutation_p.E1430* O95602 RPA1_HUMAN polymerase (RNA) I polypeptide A, 194kDa 1430 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter DNA-directed RNA polymerase I complex|nucleoplasm DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 63 tcctcttcctcACTCTCATAA 0.547000 18 56 1.67942e-08 1.84406e-08 0.539581 1 0 WWC3 55841 broad.mit.edu 37 X 10094175 10094175 + Silent SNP C C A TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chrX:10094175C>A ENST00000380861.4 + 15 2326 c.1935C>A c.(1933-1935)ccC>ccA p.P645P WWC3_ENST00000454666.1_Silent_p.P645P NM_015691.3 NP_056506.2 Q9ULE0 WWC3_HUMAN WWC family member 3 645 C2. NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 52 TCTATTTGCCCCCACTGGACT 0.602000 5 191 0.217242 0.227394 0.217242 1 0 UBTF 7343 broad.mit.edu 37 17 42286824 42286824 + Missense_Mutation SNP C C T TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr17:42286824C>T ENST00000302904.4 - 17 2293 c.1801G>A c.(1801-1803)Ggc>Agc p.G601S UBTF_ENST00000436088.1_Missense_Mutation_p.G601S|UBTF_ENST00000527034.1_Missense_Mutation_p.G564S|UBTF_ENST00000343638.5_Missense_Mutation_p.G564S|UBTF_ENST00000393606.3_Missense_Mutation_p.G564S|UBTF_ENST00000526094.1_Missense_Mutation_p.G564S|CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000529383.1_Missense_Mutation_p.G601S|UBTF_ENST00000533177.1_Missense_Mutation_p.G564S P17480 UBF1_HUMAN upstream binding transcription factor, RNA polymerase I 601 positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter nucleolus|nucleoplasm DNA binding|protein binding breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Breast(137;0.00765)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.114) CAGCGACTGCCGATCTCCACC 0.597000 11 46 0 0 0.387290 0 0 CACNA1B 774 broad.mit.edu 37 9 140811877 140811877 + Silent SNP C C G TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr9:140811877C>G ENST00000371372.1 + 6 1105 c.960C>G c.(958-960)ctC>ctG p.L320L CACNA1B_ENST00000371363.1_Silent_p.L320L|CACNA1B_ENST00000371355.4_Silent_p.L320L|CACNA1B_ENST00000371357.1_Silent_p.L320L|CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000277551.2_Silent_p.L320L NM_000718.3|NM_001243812.1 NP_000709.1|NP_001230741.1 Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, alpha 1B subunit 320 membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2) 80 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) CTGACATCCTCTATAATGTGA 0.582000 27 41 0 0 0.740014 0 0 TCEB3B 51224 broad.mit.edu 37 18 44561319 44561319 + Missense_Mutation SNP T T C rs146911955 byFrequency TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr18:44561319T>C ENST00000332567.4 - 1 669 c.317A>G c.(316-318)cAg>cGg p.Q106R KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron NM_016427.2 NP_057511.2 Q8IYF1 ELOA2_HUMAN transcription elongation factor B polypeptide 3B (elongin A2) 106 regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter integral to membrane|nucleus DNA binding p.Q106R(1) breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 GGCCTTTTCCTGGTCCTGAAG 0.652000 11 74 0 0 0.361761 0 0 NOXO1 124056 broad.mit.edu 37 16 2029466 2029466 + Missense_Mutation SNP G G T TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr16:2029466G>T ENST00000354249.4 - 7 1144 c.775C>A c.(775-777)Cgc>Agc p.R259S NOXO1_ENST00000566005.1_Missense_Mutation_p.R264S|NOXO1_ENST00000356120.4_Missense_Mutation_p.R260S|NOXO1_ENST00000397280.4_Missense_Mutation_p.R265S|TBL3_ENST00000568546.1_3'UTR NM_001267721.1|NM_144603.3|NM_172167.2|NM_172168.2 NP_001254650.1|NP_653204.1|NP_751907.1|NP_751908.1 Q8NFA2 NOXO1_HUMAN NADPH oxidase organizer 1 265 SH3 2. cell communication|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst NADPH oxidase complex enzyme binding|phosphatidylinositol binding|superoxide-generating NADPH oxidase activator activity lung(2) 2 TCCAACACGCGCACGCGCGCC 0.706000 6 28 2.0095e-06 2.18508e-06 0.248553 1 0 RPP38 10557 broad.mit.edu 37 10 15145354 15145354 + Missense_Mutation SNP G G A TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr10:15145354G>A ENST00000378197.4 + 3 555 c.41G>A c.(40-42)cGt>cAt p.R14H RPP38_ENST00000451677.1_Intron|NMT2_ENST00000466201.1_5'UTR|RPP38_ENST00000378202.5_Missense_Mutation_p.R14H NM_183005.4 NP_892117.1 P78345 RPP38_HUMAN ribonuclease P/MRP 38kDa subunit 14 tRNA processing nucleolar ribonuclease P complex protein binding|ribonuclease P activity breast(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1) 8 GGATCTCTCCGTAAGACGAGA 0.498000 26 70 0 0 0.681144 0 0 OTOF 9381 broad.mit.edu 37 2 26687829 26687829 + Missense_Mutation SNP C C T TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr2:26687829C>T ENST00000272371.2 - 39 4994 c.4868G>A c.(4867-4869)gGc>gAc p.G1623D OTOF_ENST00000339598.3_Missense_Mutation_p.G856D|OTOF_ENST00000338581.6_Missense_Mutation_p.G856D|OTOF_ENST00000403946.3_Missense_Mutation_p.G1623D|OTOF_ENST00000402415.3_Missense_Mutation_p.G933D NM_194248.2 NP_919224.1 Q9HC10 OTOF_HUMAN otoferlin 1623 cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 106 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GTCCACTTTGCCGTCTTTGCA 0.622000 3 44 0 0 0.115264 0 0 SP1 6667 broad.mit.edu 37 12 53776442 53776442 + Silent SNP C C G TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr12:53776442C>G ENST00000426431.2 + 3 750 c.690C>G c.(688-690)ccC>ccG p.P230P SP1_ENST00000327443.4_Silent_p.P237P NM_003109.1 NP_003100.1 P08047 SP1_HUMAN Sp1 transcription factor 237 Transactivation domain A (Gln-rich). positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter cytoplasm double-stranded DNA binding|histone deacetylase binding|HMG box domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1) 5 BRCA - Breast invasive adenocarcinoma(357;0.00527) AGGCTGTCCCCCTCCAAGGCC 0.488000 24 61 0 0 0.624587 0 0 SNX27 81609 broad.mit.edu 37 1 151655862 151655862 + Missense_Mutation SNP A A G TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr1:151655862A>G ENST00000368843.3 + 8 1300 c.1180A>G c.(1180-1182)Aaa>Gaa p.K394E SNX27_ENST00000368838.1_Missense_Mutation_p.K301E|SNX27_ENST00000458013.2_Missense_Mutation_p.K394E NM_030918.5 NP_112180.4 Q96L92 SNX27_HUMAN sorting nexin family member 27 394 cell communication|protein transport|signal transduction cytosol|early endosome phosphatidylinositol binding|protein binding central_nervous_system(1)|large_intestine(2)|ovary(2) 5 Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) LUSC - Lung squamous cell carcinoma(543;0.181) AGGTTACATCAAAGCAGAAGA 0.358000 8 23 0 0 0.335167 0 0 LOC101927079 101927079 broad.mit.edu 37 15 22332432 22332432 + RNA SNP C C T TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr15:22332432C>T ENST00000558896.1 + 0 239 AAGATTCTAACGTGACAGAAC 0.343000 4 77 0 0 0.278610 0 0 TYR 7299 broad.mit.edu 37 11 88911384 88911384 + Missense_Mutation SNP C C T TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr11:88911384C>T ENST00000263321.5 + 1 765 c.263C>T c.(262-264)aCc>aTc p.T88I TYR_ENST00000526139.1_3'UTR NM_000372.4 NP_000363.1 P14679 TYRO_HUMAN tyrosinase 88 eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033) Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157) TATAATAGGACCTGCCAGTGC 0.502000 9 36 0 0 0.307466 0 0 RGS5 8490 broad.mit.edu 37 1 163117208 163117208 + Missense_Mutation SNP C C G TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr1:163117208C>G ENST00000313961.5 - 5 747 c.470G>C c.(469-471)aGa>aCa p.R157T RGS5_ENST00000530507.1_Missense_Mutation_p.R161T|RGS5_ENST00000527988.1_Missense_Mutation_p.R49T|RGS5_ENST00000367903.3_Missense_Mutation_p.R177T NM_001254749.1|NM_003617.3 NP_001241678.1|NP_003608.1 O15539 RGS5_HUMAN regulator of G-protein signaling 5 157 RGS. negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|plasma membrane GTPase activator activity|signal transducer activity autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 20 LUSC - Lung squamous cell carcinoma(543;0.187) GGCATGGATTCTTTTCTGGGC 0.453000 20 46 0 0 0.575678 0 0 SPTB 6710 broad.mit.edu 37 14 65259855 65259855 + Silent SNP C C T TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr14:65259855C>T ENST00000389722.3 - 13 2579 c.2526G>A c.(2524-2526)caG>caA p.Q842Q SPTB_ENST00000556626.1_Silent_p.Q842Q|SPTB_ENST00000542895.1_Silent_p.Q842Q|SPTB_ENST00000389720.3_Silent_p.Q842Q|SPTB_ENST00000389721.5_Silent_p.Q842Q NM_001024858.2 NP_001020029.1 P11277 SPTB1_HUMAN spectrin, beta, erythrocytic 842 actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3) 106 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) CCTGCAGCCTCTGCTGACGCA 0.627000 13 50 0 0 0.435327 0 0 LARGE 9215 broad.mit.edu 37 22 33780235 33780235 + Missense_Mutation SNP C C G TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr22:33780235C>G ENST00000354992.2 - 9 1519 c.948G>C c.(946-948)tgG>tgC p.W316C LARGE_ENST00000337431.2_Missense_Mutation_p.W316C|LARGE_ENST00000402320.1_Missense_Mutation_p.W316C|LARGE_ENST00000437602.2_Missense_Mutation_p.W316C|LARGE_ENST00000397394.2_Missense_Mutation_p.W316C|LARGE_ENST00000452586.2_Missense_Mutation_p.W115C NM_004737.4 NP_004728.1 O95461 LARGE_HUMAN like-glycosyltransferase 316 glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation integral to Golgi membrane acetylglucosaminyltransferase activity breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(1;0.219) CGGTCAGCCTCCACATCTGCT 0.488000 35 85 0 0 0.779181 0 0 FGD5 152273 broad.mit.edu 37 3 14862507 14862507 + Silent SNP G G A TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr3:14862507G>A ENST00000285046.5 + 1 2039 c.1929G>A c.(1927-1929)ccG>ccA p.P643P FGD5_ENST00000543601.1_Silent_p.P402P NM_152536.3 NP_689749.3 Q6ZNL6 FGD5_HUMAN FYVE, RhoGEF and PH domain containing 5 643 actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1) 54 GCGACTCCCCGGACAAGTACA 0.507000 21 45 0 0 0.608945 0 0 C12orf45 121053 broad.mit.edu 37 12 105381948 105381948 + Missense_Mutation SNP T T A TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr12:105381948T>A ENST00000552951.1 + 2 162 c.119T>A c.(118-120)aTa>aAa p.I40K C12orf45_ENST00000280749.5_Missense_Mutation_p.I40K NM_152318.2 NP_689531.2 Q8N5I9 CL045_HUMAN chromosome 12 open reading frame 45 40 large_intestine(1)|lung(2) 3 TTTTCAGGTATATGGGACAGG 0.438000 7 10 0 0 0.248553 0 0 GGT1 2678 broad.mit.edu 37 22 25011027 25011027 + Silent SNP C C T rs112364951 by1000genomes TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr22:25011027C>T ENST00000400382.1 + 7 1070 c.315C>T c.(313-315)aaC>aaT p.N105N GGT1_ENST00000400380.1_Silent_p.N105N|GGT1_ENST00000400383.1_Silent_p.N105N|GGT1_ENST00000248923.4_Silent_p.N105N|GGT1_ENST00000406383.2_Silent_p.N105N P19440 GGT1_HUMAN gamma-glutamyltransferase 1 105 glutathione biosynthetic process integral to membrane acyltransferase activity|gamma-glutamyltransferase activity|protein binding breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1) 40 Glutathione(DB00143) AGGTCATCAACGCCCGCGAGG 0.637000 4 60 0 0 0.150653 0 0 CARD14 79092 broad.mit.edu 37 17 78166304 78166304 + Silent SNP C C G TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr17:78166304C>G ENST00000573882.1 + 11 1778 c.1242C>G c.(1240-1242)ctC>ctG p.L414L CARD14_ENST00000573754.1_3'UTR|CARD14_ENST00000344227.2_Silent_p.L414L|CARD14_ENST00000570421.1_Silent_p.L414L|CARD14_ENST00000392434.2_Silent_p.L177L Q9BXL6 CAR14_HUMAN caspase recruitment domain family, member 14 414 activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis aggresome|cytoplasm|plasma membrane CARD domain binding NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1) 23 all_neural(118;0.0952) OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908) TTTGGCAGCTCAAGCAGGAAG 0.612000 19 59 0 0 0.575678 0 0 TTLL5 23093 broad.mit.edu 37 14 76186104 76186104 + Missense_Mutation SNP A A G TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr14:76186104A>G ENST00000298832.9 + 11 1074 c.869A>G c.(868-870)tAt>tGt p.Y290C TTLL5_ENST00000555422.1_Intron|TTLL5_ENST00000557636.1_Missense_Mutation_p.Y290C NM_015072.4 NP_055887.3 Q6EMB2 TTLL5_HUMAN tubulin tyrosine ligase-like family, member 5 290 TTL. protein modification process|transcription, DNA-dependent centrosome|cilium|microtubule basal body|nucleus tubulin-tyrosine ligase activity NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2) 50 BRCA - Breast invasive adenocarcinoma(234;0.029) GTGGAGGATTATGGAAACAAA 0.388000 2 23 0 0 0.115264 0 0 PCDHA9 9752 broad.mit.edu 37 5 140229486 140229486 + Missense_Mutation SNP C C T TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr5:140229486C>T ENST00000378122.3 + 1 2130 c.1406C>T c.(1405-1407)cCg>cTg p.P469L PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000532602.1_Missense_Mutation_p.P469L|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron NM_014005.3 NP_054724.1 breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 59 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAGAACAACCCGCCGGGCTGC 0.672000 41 87 0 0 0.834066 0 0 LSM14B 149986 broad.mit.edu 37 20 60697745 60697745 + Missense_Mutation SNP C C T TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr20:60697745C>T ENST00000253001.4 + 1 229 c.23C>T c.(22-24)cCg>cTg p.P8L LSM14B_ENST00000279068.6_Missense_Mutation_p.P8L|LSM14B_ENST00000370915.1_Missense_Mutation_p.P8L Q9BX40 LS14B_HUMAN LSM14B, SCD6 homolog B (S. cerevisiae) 8 multicellular organismal development|regulation of translation ribonucleoprotein complex endometrium(3)|kidney(1)|lung(4) 8 Breast(26;3.97e-09) BRCA - Breast invasive adenocarcinoma(19;1.28e-07) TCAGGCACCCCGTATCTGGGC 0.726000 6 33 0 0 0.217242 0 0 GTF2I 2969 broad.mit.edu 37 7 74148279 74148279 + Missense_Mutation SNP A A G TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr7:74148279A>G ENST00000324896.4 + 16 1708 c.1319A>G c.(1318-1320)aAt>aGt p.N440S GTF2I_ENST00000346152.4_Missense_Mutation_p.N419S|GTF2I_ENST00000416070.1_Missense_Mutation_p.N399S|GTF2I_ENST00000353920.4_Missense_Mutation_p.N420S NM_032999.2 NP_127492.1 P78347 GTF2I_HUMAN general transcription factor IIi 440 negative regulation of angiogenesis|signal transduction|transcription initiation from RNA polymerase II promoter cytoplasm|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity p.N440S(7) NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 19 GAGCTTCTGAATTCAACACGT 0.358000 3 97 0 0 0.115264 0 0 GFI1B 8328 broad.mit.edu 37 9 135866388 135866388 + Missense_Mutation SNP G G A TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr9:135866388G>A ENST00000339463.3 + 11 1763 c.944G>A c.(943-945)cGc>cAc p.R315H GFI1B_ENST00000450530.1_Missense_Mutation_p.R315H|GFI1B_ENST00000372122.1_Missense_Mutation_p.R315H|GFI1B_ENST00000534944.1_Missense_Mutation_p.R269H|GFI1B_ENST00000372124.1_Missense_Mutation_p.R269H|GFI1B_ENST00000372123.1_Missense_Mutation_p.R269H Q5VTD9 GFI1B_HUMAN growth factor independent 1B transcription repressor 315 Interaction with ARIH2.|Mediates interaction with GATA1. cell proliferation|chromatin modification|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle|transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|zinc ion binding p.R315H(1) central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1) 21 OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05) GGCTTCCAGCGCAAGGTGGAC 0.647000 3 53 0 0 0.150653 0 0 SEMA3D 223117 broad.mit.edu 37 7 84751133 84751133 + Silent SNP T T C TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr7:84751133T>C ENST00000284136.6 - 1 118 c.75A>G c.(73-75)ctA>ctG p.L25L SEMA3D_ENST00000444867.1_Silent_p.L25L NM_152754.2 NP_689967.2 O95025 SEM3D_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D 25 cell differentiation|nervous system development extracellular region|membrane receptor activity NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2) 73 TGGTCATGCTTAGCATCATCA 0.333000 19 31 0 0 0.575678 0 0 CACNA1E 777 broad.mit.edu 37 1 181707501 181707501 + Splice_Site SNP A A G TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr1:181707501A>G ENST00000526775.1 + 23 3660 c.e23-1 CACNA1E_ENST00000357570.5_Splice_Site|CACNA1E_ENST00000367570.1_Splice_Site|CACNA1E_ENST00000367573.2_Splice_Site|CACNA1E_ENST00000360108.3_Splice_Site|CACNA1E_ENST00000367567.4_Splice_Site|CACNA1E_ENST00000358338.5_Splice_Site NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 TGTGTCTTTCAGGTCCTGAGG 0.488000 5 233 0 0 0.217242 0 0 PCDHB2 56133 broad.mit.edu 37 5 140476332 140476332 + Missense_Mutation SNP C C T TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr5:140476332C>T ENST00000194155.4 + 1 2106 c.1958C>T c.(1957-1959)cCg>cTg p.P653L NM_018936.2 NP_061759.1 Q9Y5E7 PCDB2_HUMAN 653 Cadherin 6. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGCGAGCCTCCGCGCTCGGCC 0.721000 24 68 0 0 0.667858 0 0 ADAMTS18 170692 broad.mit.edu 37 16 77465414 77465414 + Missense_Mutation SNP C C G TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr16:77465414C>G ENST00000282849.5 - 3 691 c.273G>C c.(271-273)caG>caC p.Q91H ADAMTS18_ENST00000567121.1_5'UTR NM_199355.2 NP_955387.1 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 18 91 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 118 TTCTGGCATTCTGCGCCGATC 0.478000 59 160 0 0 0.870114 0 0 HERC2P3 283755 broad.mit.edu 37 15 20645758 20645758 + RNA SNP G G A TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr15:20645758G>A ENST00000428453.1 - 0 3007 central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 35 AGTGAAGGGTGCGTGCCCTTC 0.607000 5 32 0 0 0.217242 0 0 CX3CL1 6376 broad.mit.edu 37 16 57416628 57416628 + Missense_Mutation SNP C C T TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr16:57416628C>T ENST00000565912.1 + 2 3470 c.764C>T c.(763-765)tCa>tTa p.S255L CX3CL1_ENST00000563383.1_Missense_Mutation_p.S299L|CX3CL1_ENST00000006053.6_Missense_Mutation_p.S293L P78423 X3CL1_HUMAN chemokine (C-X3-C motif) ligand 1 293 Mucin-like stalk. cell adhesion|cytokine-mediated signaling pathway|defense response|immune response|leukocyte adhesive activation|positive regulation of calcium-independent cell-cell adhesion|positive regulation of inflammatory response cell surface|extracellular space|integral to membrane|plasma membrane chemokine activity breast(1)|endometrium(1)|large_intestine(1)|lung(2) 5 CCTGTCTCCTCAGAAGGGACC 0.672000 19 55 0 0 0.557998 0 0 TTF1 7270 broad.mit.edu 37 9 135263551 135263551 + Missense_Mutation SNP G G A rs112758716 TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr9:135263551G>A ENST00000334270.2 - 8 2326 c.2287C>T c.(2287-2289)Cgg>Tgg p.R763W NM_001205296.1|NM_007344.3 NP_001192225.1|NP_031370.2 Q15361 TTF1_HUMAN transcription termination factor, RNA polymerase I 763 negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription nucleolus|nucleoplasm DNA binding endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05) ACCTTGGCCCGCAGGGCATTC 0.408000 3 38 0 0 0.115264 0 0 TCEB3B 51224 broad.mit.edu 37 18 44561321 44561321 + Missense_Mutation SNP G G C rs138936821 byFrequency TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr18:44561321G>C ENST00000332567.4 - 1 667 c.315C>G c.(313-315)gaC>gaG p.D105E KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron NM_016427.2 NP_057511.2 Q8IYF1 ELOA2_HUMAN transcription elongation factor B polypeptide 3B (elongin A2) 105 regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter integral to membrane|nucleus DNA binding p.D105E(1) breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 CCTTTTCCTGGTCCTGAAGAG 0.662000 10 71 0 0 0.335167 0 0 PLSCR1 5359 broad.mit.edu 37 3 146251317 146251317 + Missense_Mutation SNP G G T TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr3:146251317G>T ENST00000342435.4 - 3 444 c.34C>A c.(34-36)Cac>Aac p.H12N PLSCR1_ENST00000448787.2_Silent_p.L3L|PLSCR1_ENST00000448205.1_5'UTR|PLSCR1_ENST00000487389.1_Missense_Mutation_p.H5N NM_021105.2 NP_066928.1 O15162 PLS1_HUMAN phospholipid scramblase 1 12 phospholipid scrambling|platelet activation|response to virus integral to membrane|plasma membrane calcium ion binding|phospholipid scramblase activity|SH3 domain binding breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1) 15 GTTTCCGGGTGAGAAGCATTC 0.353000 22 82 3.62473e-10 4.0195e-10 0.608945 1 0 INPP5A 3632 broad.mit.edu 37 10 134563026 134563026 + Silent SNP C C G TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr10:134563026C>G ENST00000368594.3 + 10 1015 c.738C>G c.(736-738)ctC>ctG p.L246L INPP5A_ENST00000368593.3_Silent_p.L246L NM_005539.3 NP_005530.3 Q14642 I5P1_HUMAN inositol polyphosphate-5-phosphatase, 40kDa 246 cell communication membrane inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|PH domain binding cervix(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326) TGCAGACGCTCTGCACAAAAG 0.612000 23 47 0 0 0.681144 0 0 PCDHB4 56131 broad.mit.edu 37 5 140503159 140503159 + Missense_Mutation SNP G G A TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr5:140503159G>A ENST00000194152.1 + 1 1579 c.1579G>A c.(1579-1581)Gag>Aag p.E527K NM_018938.2 NP_061761.1 Q9Y5E5 PCDB4_HUMAN 527 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton calcium ion binding autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 67 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCAGGCGTTCGAGTTCCGCGT 0.677000 42 85 0 0 0.827153 0 0 KLHL7 55975 broad.mit.edu 37 7 23164704 23164704 + Missense_Mutation SNP G G A TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr7:23164704G>A ENST00000339077.5 + 4 598 c.355G>A c.(355-357)Gat>Aat p.D119N KLHL7_ENST00000539124.1_Missense_Mutation_p.D43N|KLHL7_ENST00000545443.1_Missense_Mutation_p.D97N|KLHL7_ENST00000545771.1_Missense_Mutation_p.D97N|KLHL7_ENST00000479288.1_Intron|KLHL7_ENST00000322275.5_Missense_Mutation_p.D119N|KLHL7_ENST00000410047.1_Missense_Mutation_p.D97N|KLHL7_ENST00000542558.1_Intron|KLHL7_ENST00000409689.1_Missense_Mutation_p.D71N|KLHL7_ENST00000322231.7_Missense_Mutation_p.D97N NM_001031710.2 NP_001026880.2 Q8IXQ5 KLHL7_HUMAN kelch-like family member 7 Golgi apparatus|nucleolus|plasma membrane breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 GTCTTTGCTGGATGCAGCAAA 0.318000 16 28 0 0 0.500413 0 0 CYP4Z1 199974 broad.mit.edu 37 1 47583503 47583503 + Missense_Mutation SNP G G T TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr1:47583503G>T ENST00000334194.3 + 12 1418 c.1415G>T c.(1414-1416)cGc>cTc p.R472L CYP4Z1_ENST00000471598.1_3'UTR|CYP4A22-AS1_ENST00000444042.2_lincRNA NM_178134.2 NP_835235.1 Q86W10 CP4Z1_HUMAN cytochrome P450, family 4, subfamily Z, polypeptide 1 472 endoplasmic reticulum membrane|integral to membrane|microsome aromatase activity|electron carrier activity|heme binding cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1) 11 ACTCTGCTCCGCTTCAAGCTG 0.468000 19 35 9.7654e-05 0.000105166 0.557998 1 0 SEC22B 9554 broad.mit.edu 37 1 145103956 145103956 + RNA SNP C C T TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr1:145103956C>T ENST00000453618.1 + 0 451 O75396 SC22B_HUMAN SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene) ER to Golgi vesicle-mediated transport|protein transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome protein binding GTAACTCTTTCGAAAGTTGAA 0.388000 3 20 0 0 0.184627 0 0 PDXDC2P 283970 broad.mit.edu 37 16 70065826 70065826 + RNA SNP T T C rs3169319 by1000genomes TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr16:70065826T>C ENST00000531894.1 - 0 796 NR_003610.1 p.M209V(4) GATCCAAACATAGTGTTACAG 0.453000 3 111 0 0 0.115264 0 0 BOD1L1 259282 broad.mit.edu 37 4 13601146 13601146 + Nonsense_Mutation SNP C C A TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr4:13601146C>A ENST00000040738.5 - 10 7513 c.7378G>T c.(7378-7380)Gaa>Taa p.E2460* NM_148894.2 NP_683692.2 Q8NFC6 BOD1L_HUMAN biorientation of chromosomes in cell division 1-like 1 2460 DNA binding TTCTTCTCTTCTGCATTTATG 0.468000 OREG0016115 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 19 60 2.39187e-15 2.6789e-15 0.575678 1 0 HAO2 51179 broad.mit.edu 37 1 119923746 119923746 + Missense_Mutation SNP C C T TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr1:119923746C>T ENST00000361035.4 + 3 360 c.77C>T c.(76-78)gCg>gTg p.A26V HAO2_ENST00000325945.3_Missense_Mutation_p.A13V Q9NYQ3 HAOX2_HUMAN hydroxyacid oxidase 2 (long chain) 13 FMN hydroxy acid dehydrogenase. fatty acid alpha-oxidation peroxisome (S)-2-hydroxy-acid oxidase activity breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2) 30 all_neural(166;0.187) all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284) Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856) CAGGCCCATGCGCGAGAGCAG 0.473000 4 144 0 0 0.184627 0 0 HIST1H1D 3007 broad.mit.edu 37 6 26234607 26234607 + Silent SNP T T C TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr6:26234607T>C ENST00000244534.5 - 1 609 c.555A>G c.(553-555)aaA>aaG p.K185K NM_005320.2 NP_005311.1 P16402 H13_HUMAN histone cluster 1, H1d 185 nucleosome assembly nucleosome|nucleus DNA binding breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 23 all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167) TCTTGGCAGCTTTTTTTGGCT 0.522000 3 131 0 0 0.150653 0 0 TYMP 1890 broad.mit.edu 37 22 50968116 50968116 + Missense_Mutation SNP C C T TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr22:50968116C>T ENST00000252029.3 - 2 185 c.23G>A c.(22-24)gGa>gAa p.G8E TYMP_ENST00000395681.1_Missense_Mutation_p.G8E|TYMP_ENST00000395678.3_Missense_Mutation_p.G8E|TYMP_ENST00000395680.1_Missense_Mutation_p.G8E NM_001113755.2|NM_001113756.2|NM_001257988.1|NM_001257989.1|NM_001953.4 NP_001107227.1|NP_001107228.1|NP_001244917.1|NP_001244918.1|NP_001944.1 P19971 TYPH_HUMAN thymidine phosphorylase 8 angiogenesis|cell differentiation|chemotaxis|DNA replication|mitochondrial genome maintenance|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|pyrimidine nucleotide metabolic process cytosol growth factor activity|platelet-derived growth factor receptor binding|pyrimidine-nucleoside phosphorylase activity|thymidine phosphorylase activity large_intestine(1)|lung(2)|ovary(1)|prostate(1) 5 all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247) Capecitabine(DB01101)|Docetaxel(DB01248)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Sulfasalazine(DB00795)|Tamoxifen(DB00675) GGCCCCGGTTCCCGGGGTCAT 0.716000 4 25 0 0 0.184627 0 0 ZNF91 7644 broad.mit.edu 37 19 23543307 23543307 + Missense_Mutation SNP G G A TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr19:23543307G>A ENST00000300619.7 - 4 2679 c.2474C>T c.(2473-2475)cCc>cTc p.P825L ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.P793L NM_003430.2 NP_003421.2 Q05481 ZNF91_HUMAN zinc finger protein 91 825 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) ACATTTGTAGGGTTTCTCTCC 0.403000 11 52 0 0 0.387290 0 0 BAGE2 85319 broad.mit.edu 37 21 11039390 11039390 + RNA SNP T T C TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr21:11039390T>C ENST00000470054.1 - 0 813 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TTCTTCACTATCAGCCTCATT 0.318000 4 179 0 0 0.150653 0 0 HEATR1 55127 broad.mit.edu 37 1 236716964 236716964 + Missense_Mutation SNP A A G TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr1:236716964A>G ENST00000366582.3 - 43 6268 c.6154T>C c.(6154-6156)Ttt>Ctt p.F2052L HEATR1_ENST00000366581.2_Missense_Mutation_p.F1971L NM_018072.5 NP_060542.4 Q9H583 HEAT1_HUMAN HEAT repeat containing 1 2052 rRNA processing nucleolus|ribonucleoprotein complex protein binding NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 87 Ovarian(103;0.0634)|Breast(184;0.133) all_cancers(173;0.0255)|Prostate(94;0.175) OV - Ovarian serous cystadenocarcinoma(106;0.00117) GCCACCGAAAACTGTGCGATG 0.493000 19 58 0 0 0.812448 0 0 PCDH18 54510 broad.mit.edu 37 4 138451062 138451062 + Missense_Mutation SNP C C G TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr4:138451062C>G ENST00000344876.4 - 1 2567 c.2181G>C c.(2179-2181)gaG>gaC p.E727D PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000507846.1_Missense_Mutation_p.E507D|PCDH18_ENST00000412923.2_Missense_Mutation_p.E727D NM_019035.3 NP_061908.1 Q9HCL0 PCD18_HUMAN protocadherin 18 727 brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_hematologic(180;0.24) TGTCTTTCTTCTCGCGGTTAC 0.448000 23 43 0 0 0.624587 0 0 HERC2 8924 broad.mit.edu 37 15 28467317 28467317 + Missense_Mutation SNP G G C TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr15:28467317G>C ENST00000261609.7 - 36 5617 c.5509C>G c.(5509-5511)Caa>Gaa p.Q1837E NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 1837 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) GAAGCACCTTGAGCAGAAGCA 0.493000 8 26 0 0 0.387290 0 0 RHOA 387 broad.mit.edu 37 3 49397710 49397710 + Missense_Mutation SNP C C T TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr3:49397710C>T ENST00000418115.1 - 5 898 c.514G>A c.(514-516)Gaa>Aaa p.E172K RHOA_ENST00000422781.1_3'UTR|RHOA_ENST00000454011.2_3'UTR NM_001664.2 NP_001655.1 P61586 RHOA_HUMAN ras homolog family member A 172 axon guidance|interspecies interaction between organisms|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of axonogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of neuron differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of stress fiber assembly|regulation of cell migration|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|spindle assembly involved in mitosis cytoskeleton|cytosol|plasma membrane GTP binding|GTPase activity|myosin binding cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 12 BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258) Atorvastatin(DB01076)|Simvastatin(DB00641) GTAGCCATTTCAAAAACCTCT 0.483000 20 91 0 0 0.592651 0 0 RRN3P2 653390 broad.mit.edu 37 16 29110458 29110458 + RNA SNP T T C rs151074589 by1000genomes TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr16:29110458T>C ENST00000564580.1 + 0 1131 p.W375R(25) GAATTTTGAGTGGATAGTGAT 0.328000 3 40 0 0 0.150653 0 0 CD164 8763 broad.mit.edu 37 6 109691643 109691643 + Missense_Mutation SNP G G C TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr6:109691643G>C ENST00000310786.4 - 5 463 c.398C>G c.(397-399)tCt>tGt p.S133C CD164_ENST00000504373.1_Missense_Mutation_p.S99C|CD164_ENST00000368961.5_Intron|CD164_ENST00000506649.1_5'UTR|CD164_ENST00000413644.2_Missense_Mutation_p.S133C|CD164_ENST00000324953.5_Intron|CD164_ENST00000512821.1_Missense_Mutation_p.S133C|CD164_ENST00000275080.7_Missense_Mutation_p.S120C NM_001142404.1|NM_006016.4 NP_001135876.1|NP_006007.2 Q04900 MUC24_HUMAN CD164 molecule, sialomucin 133 Thr-rich. hemopoiesis|heterophilic cell-cell adhesion|immune response|muscle organ development|negative regulation of cell adhesion|negative regulation of cell proliferation|signal transduction endosome membrane|extracellular region|integral to plasma membrane|lysosomal membrane protein binding breast(1)|lung(2) 3 all_cancers(87;4.65e-22)|all_epithelial(87;2.54e-20)|all_lung(197;1.6e-05)|Lung NSC(302;2.92e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.0175) Epithelial(106;7.83e-46)|all cancers(137;1.15e-45)|OV - Ovarian serous cystadenocarcinoma(136;2.89e-26)|BRCA - Breast invasive adenocarcinoma(108;0.00128)|GBM - Glioblastoma multiforme(226;0.16) GGAAGTTGTAGAAGGGGAGGG 0.378000 4 21 0 0 0.184627 0 0 DENND4A 10260 broad.mit.edu 37 15 65988761 65988761 + Missense_Mutation SNP C C T TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr15:65988761C>T ENST00000443035.3 - 22 3237 c.3022G>A c.(3022-3024)Gtt>Att p.V1008I DENND4A_ENST00000431932.2_Missense_Mutation_p.V965I NM_001144823.1 NP_001138295.1 Q7Z401 MYCPP_HUMAN DENN/MADD domain containing 4A 965 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 51 GTGAGGCGAACGATACTGGAA 0.383000 5 26 0 0 0.217242 0 0 COL18A1 80781 broad.mit.edu 37 21 46914788 46914788 + Missense_Mutation SNP C C T TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr21:46914788C>T ENST00000359759.4 + 27 3658 c.3637C>T c.(3637-3639)Cgg>Tgg p.R1213W COL18A1_ENST00000355480.5_Missense_Mutation_p.R978W|COL18A1_ENST00000459895.1_3'UTR|COL18A1_ENST00000400337.2_Missense_Mutation_p.R798W P39060 COIA1_HUMAN collagen, type XVIII, alpha 1 1213 Triple-helical region 6 (COL6). cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception collagen|extracellular space extracellular matrix structural constituent|metal ion binding|protein binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929) TCCATACGGACGGCCGGGGTA 0.682000 7 22 0 0 0.307466 0 0 SORCS1 114815 broad.mit.edu 37 10 108380301 108380301 + Missense_Mutation SNP T T C TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr10:108380301T>C ENST00000263054.6 - 20 2688 c.2681A>G c.(2680-2682)cAc>cGc p.H894R SORCS1_ENST00000369698.1_Missense_Mutation_p.H429R|SORCS1_ENST00000344440.6_Missense_Mutation_p.H894R NM_001206570.1|NM_052918.4 NP_001193499.1|NP_443150.3 Q8WY21 SORC1_HUMAN sortilin-related VPS10 domain containing receptor 1 894 PKD. integral to membrane neuropeptide receptor activity|protein binding breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 127 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) AAGAGACAGGTGCACGTGCTC 0.557000 17 30 0 0 0.520397 0 0 VARS 7407 broad.mit.edu 37 6 31760629 31760629 + Missense_Mutation SNP C C T TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr6:31760629C>T ENST00000375663.3 - 4 1006 c.566G>A c.(565-567)cGc>cAc p.R189H VARS_ENST00000444930.2_5'UTR NM_006295.2 NP_006286.1 P26640 SYVC_HUMAN valyl-tRNA synthetase 189 GST C-terminal. translational elongation|valyl-tRNA aminoacylation cytosol ATP binding|protein binding|valine-tRNA ligase activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 30 L-Valine(DB00161) GACAAACCAGCGAGTCACATT 0.547000 12 46 0 0 0.387290 0 0 PCDHA4 56144 broad.mit.edu 37 5 140188974 140188974 + Silent SNP G G A TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr5:140188974G>A ENST00000530339.1 + 1 2202 c.2202G>A c.(2200-2202)ccG>ccA p.P734P PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Silent_p.P734P|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000356878.4_Silent_p.P734P NM_018907.2 NP_061730.1 breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGTGCGCTCCGGGCAAGCCCA 0.682000 22 50 0 0 0.592651 0 0 HDAC1 3065 broad.mit.edu 37 1 32797278 32797278 + Splice_Site SNP C C T TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr1:32797278C>T ENST00000373548.3 + 11 1174 c.1090C>T c.(1090-1092)Cag>Tag p.Q364* HDAC1_ENST00000373541.2_Splice_Site_p.Q171*|HDAC1_ENST00000490081.1_3'UTR NM_004964.2 NP_004955.2 Q13547 HDAC1_HUMAN histone deacetylase 1 364 anti-apoptosis|blood coagulation|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|histone H3 deacetylation|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of androgen receptor signaling pathway|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter cytosol|NuRD complex|Sin3 complex activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|identical protein 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)|RNA polymerase II transcription corepressor activity|sequence-specific DNA binding transcription factor activity NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2) 18 Breast(348;0.000523)|Lung NSC(340;0.000992)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Lung SC(1967;0.113) KIRC - Kidney renal clear cell carcinoma(1967;0.138) Vorinostat(DB02546) TGGCCACAGACAGCGACTGTT 0.552000 26 89 0 0 0.717897 0 0 PCDHGA5 56110 broad.mit.edu 37 5 140746095 140746095 + Missense_Mutation SNP C C T TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr5:140746095C>T ENST00000518069.1 + 1 2198 c.2198C>T c.(2197-2199)gCg>gTg p.A733V PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron NM_018918.2|NM_032054.1 NP_061741.1|NP_114443.1 endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3) 18 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGCAGGTTGGCGGGTGTGCCC 0.632000 4 149 0 0 0.150653 0 0 ADPRH 141 broad.mit.edu 37 3 119305346 119305346 + Silent SNP G G A TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr3:119305346G>A ENST00000478399.1 + 3 1918 c.513G>A c.(511-513)ggG>ggA p.G171G ADPRH_ENST00000478927.1_Silent_p.G171G|ADPRH_ENST00000357003.3_Silent_p.G171G|ADPRH_ENST00000471850.1_3'UTR|ADPRH_ENST00000465513.1_Silent_p.G171G P54922 ADPRH_HUMAN ADP-ribosylarginine hydrolase 171 protein de-ADP-ribosylation ADP-ribosylarginine hydrolase activity|magnesium ion binding breast(1)|kidney(1)|lung(10)|ovary(1) 13 Lung NSC(201;0.0977) GBM - Glioblastoma multiforme(114;0.23) GCTACCTGGGGGCCCTTGCGT 0.542000 38 115 0 0 0.796494 0 0 ABCC10 89845 broad.mit.edu 37 6 43403844 43403844 + Silent SNP A A G TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr6:43403844A>G ENST00000244533.3 + 4 2009 c.1650A>G c.(1648-1650)ttA>ttG p.L550L ABCC10_ENST00000372530.4_Intron NM_033450.2 NP_258261.2 Q5T3U5 MRP7_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 10 589 ABC transmembrane type-1 1. integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_lung(25;0.00536) Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804) GTGGTAGATTAGGAGCCCAAA 0.488000 3 159 0 0 0.150653 0 0 OR2T33 391195 broad.mit.edu 37 1 248436878 248436878 + Missense_Mutation SNP G G A TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr1:248436878G>A ENST00000318021.2 - 1 260 c.239C>T c.(238-240)gCg>gTg p.A80V NM_001004695.1 NP_001004695.1 Q8NG76 O2T33_HUMAN olfactory receptor, family 2, subfamily T, member 33 80 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4) 67 all_cancers(71;0.000124)|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;0.0245) GTAGTCAGCCGCCATTTTGGG 0.567000 51 163 0 0 0.870114 0 0 ATG14 22863 broad.mit.edu 37 14 55836491 55836491 + Missense_Mutation SNP C C T TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr14:55836491C>T ENST00000247178.5 - 10 1360 c.1325G>A c.(1324-1326)cGg>cAg p.R442Q NM_014924.4 NP_055739.2 Q6ZNE5 BAKOR_HUMAN autophagy related 14 442 autophagic vacuole assembly|positive regulation of autophagy autophagic vacuole|endoplasmic reticulum|pre-autophagosomal structure membrane protein binding central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(2) 13 ATCACAAAACCGGGGACTAGG 0.587000 16 43 0 0 0.479597 0 0 QSER1 79832 broad.mit.edu 37 11 32994985 32994985 + Missense_Mutation SNP G G A TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr11:32994985G>A ENST00000399302.2 + 11 5196 c.4861G>A c.(4861-4863)Gat>Aat p.D1621N QSER1_ENST00000527788.1_Missense_Mutation_p.D1382N NM_001076786.1 NP_001070254.1 Q2KHR3 QSER1_HUMAN glutamine and serine rich 1 1621 breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1) 48 Breast(20;0.158) AATTACTCGAGATTCTAAAGC 0.333000 23 30 0 0 0.624587 0 0 SLC6A19 340024 broad.mit.edu 37 5 1214154 1214154 + Missense_Mutation SNP C C G TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr5:1214154C>G ENST00000304460.10 + 6 917 c.861C>G c.(859-861)atC>atG p.I287M NM_001003841.2 NP_001003841.1 Q695T7 S6A19_HUMAN solute carrier family 6 (neutral amino acid transporter), member 19 287 cellular nitrogen compound metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 44 all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10) Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) GGGGCCTCATCTCCTTCTCCA 0.622000 24 85 0 0 0.667858 0 0 POTEC 388468 broad.mit.edu 37 18 14513764 14513764 + Missense_Mutation SNP C C T TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr18:14513764C>T ENST00000358970.5 - 10 1429 c.1430G>A c.(1429-1431)cGg>cAg p.R477Q NM_001137671.1 NP_001131143.1 B2RU33 POTEC_HUMAN POTE ankyrin domain family, member C 477 p.R477Q(12) NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 AAGTTGTTTCCGGGTATCATT 0.358000 4 49 0 0 0.150653 0 0 KCNA6 3742 broad.mit.edu 37 12 4919301 4919301 + Missense_Mutation SNP G G A TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr12:4919301G>A ENST00000433855.1 + 1 960 c.94G>A c.(94-96)Ggc>Agc p.G32S KCNA6_ENST00000280684.3_Missense_Mutation_p.G32S NM_002235.3 NP_002226.1 P17658 KCNA6_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 6 32 voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5) 49 CCCGGAGGCCGGCGGGGGCGG 0.662000 HNSCC(72;0.22) 27 56 0 0 0.750413 0 0 IL6ST 3572 broad.mit.edu 37 5 55252048 55252048 + Nonstop_Mutation SNP C C G TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr5:55252048C>G ENST00000381287.4 - 7 1024 c.989G>C c.(988-990)tGa>tCa p.*330S IL6ST_ENST00000522633.2_Nonstop_Mutation_p.*330S|IL6ST_ENST00000381298.2_Missense_Mutation_p.E358Q|IL6ST_ENST00000336909.5_Missense_Mutation_p.E358Q|IL6ST_ENST00000381294.3_Missense_Mutation_p.E358Q|IL6ST_ENST00000536319.1_Nonstop_Mutation_p.*330S|IL6ST_ENST00000381293.2_Intron|IL6ST_ENST00000502326.3_Missense_Mutation_p.E358Q|IL6ST_ENST00000381286.3_Intron P40189 IL6RB_HUMAN interleukin 6 signal transducer (gp130, oncostatin M receptor) 0 Fibronectin type-III 3. interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223) CCATTGGCTTCAAAAGGAGGC 0.284000 O hepatocellular ca 7 35 0 0 0.248553 0 0 POLR1A 25885 broad.mit.edu 37 2 86258707 86258707 + Missense_Mutation SNP C C T TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr2:86258707C>T ENST00000263857.6 - 30 4702 c.4324G>A c.(4324-4326)Gat>Aat p.D1442N POLR1A_ENST00000409681.1_Missense_Mutation_p.D1442N O95602 RPA1_HUMAN polymerase (RNA) I polypeptide A, 194kDa 1442 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter DNA-directed RNA polymerase I complex|nucleoplasm DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 63 atgtcttcatcgtcgttctcc 0.557000 17 53 0 0 0.539581 0 0 MPND 84954 broad.mit.edu 37 19 4357557 4357557 + Missense_Mutation SNP C C G TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr19:4357557C>G ENST00000599840.1 + 10 1246 c.1211C>G c.(1210-1212)cCt>cGt p.P404R MPND_ENST00000359935.4_Missense_Mutation_p.P354R|AC007292.3_ENST00000593524.1_RNA|MPND_ENST00000262966.8_Missense_Mutation_p.P404R Q8N594 MPND_HUMAN MPN domain containing 404 peptidase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1) 8 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18) AAGATCTCACCTTTCTGGGTG 0.672000 7 26 0 0 0.411799 0 0 BOD1L1 259282 broad.mit.edu 37 4 13601587 13601587 + Missense_Mutation SNP C C T TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr4:13601587C>T ENST00000040738.5 - 10 7072 c.6937G>A c.(6937-6939)Gaa>Aaa p.E2313K NM_148894.2 NP_683692.2 Q8NFC6 BOD1L_HUMAN biorientation of chromosomes in cell division 1-like 1 2313 DNA binding AGCCGATCTTCATCCTGGAGG 0.522000 10 6 0 0 0.335167 0 0 HMCN1 83872 broad.mit.edu 37 1 186024541 186024541 + Silent SNP C C T TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr1:186024541C>T ENST00000271588.4 + 45 7108 c.6879C>T c.(6877-6879)acC>acT p.T2293T HMCN1_ENST00000367492.2_Silent_p.T2293T NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 2293 Ig-like C2-type 21. response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 CAACCATAACCAACAGTGGCA 0.443000 19 37 0 0 0.608945 0 0 CDH26 60437 broad.mit.edu 37 20 58545166 58545166 + Silent SNP C C T TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr20:58545166C>T ENST00000348616.4 + 3 456 c.156C>T c.(154-156)tcC>tcT p.S52S CDH26_ENST00000244047.5_Silent_p.S52S NM_177980.2 NP_817089.1 Q8IXH8 CAD26_HUMAN cadherin 26 52 Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1) 44 all_lung(29;0.00963) BRCA - Breast invasive adenocarcinoma(7;5.58e-09) TACGGCGATCCAAGAGAAGAT 0.502000 24 112 0 0 0.693898 0 0 MIPOL1 145282 broad.mit.edu 37 14 37892073 37892073 + Missense_Mutation SNP C C T TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr14:37892073C>T ENST00000327441.7 + 12 1416 c.950C>T c.(949-951)tCt>tTt p.S317F MIPOL1_ENST00000536774.1_Missense_Mutation_p.S136F|MIPOL1_ENST00000556451.1_Missense_Mutation_p.S286F|MIPOL1_ENST00000539062.2_Missense_Mutation_p.S286F|MIPOL1_ENST00000537471.1_Missense_Mutation_p.S317F|MIPOL1_ENST00000396294.2_Missense_Mutation_p.S317F|MIPOL1_ENST00000545536.1_Missense_Mutation_p.S286F NM_001195296.1|NM_001195297.1|NM_138731.6 NP_001182225.1|NP_001182226.1|NP_620059.1 Q8TD10 MIPO1_HUMAN mirror-image polydactyly 1 317 breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 23 Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213) Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196) GBM - Glioblastoma multiforme(112;0.0358) AAGTTGTTATCTATGCAACAA 0.323000 7 14 0 0 0.335167 0 0 PLXNB2 23654 broad.mit.edu 37 22 50718455 50718455 + Missense_Mutation SNP G G C TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr22:50718455G>C ENST00000449103.1 - 26 4361 c.4221C>G c.(4219-4221)atC>atG p.I1407M PLXNB2_ENST00000359337.4_Missense_Mutation_p.I1407M O15031 PLXB2_HUMAN plexin B2 1407 regulation of small GTPase mediated signal transduction integral to membrane|intracellular GTPase activator activity|protein binding|receptor activity breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 66 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) GGTACAGGCAGATGGACATCC 0.607000 10 46 0 0 0.335167 0 0 CD19 930 broad.mit.edu 37 16 28948412 28948412 + Missense_Mutation SNP G G A TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr16:28948412G>A ENST00000538922.1 + 8 1215 c.1153G>A c.(1153-1155)Gtc>Atc p.V385I CD19_ENST00000567541.1_Missense_Mutation_p.V385I|CD19_ENST00000324662.3_Missense_Mutation_p.V385I NM_001178098.1|NM_001770.5 NP_001171569.1|NP_001761.3 P15391 CD19_HUMAN CD19 molecule 385 cellular defense response external side of plasma membrane|integral to plasma membrane protein binding|receptor signaling protein activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(4)|urinary_tract(1) 29 GAGCAGCGACGTCCAGGCGGA 0.682000 4 17 0 0 0.184627 0 0 SIPA1L2 57568 broad.mit.edu 37 1 232601037 232601037 + Missense_Mutation SNP G G A TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr1:232601037G>A ENST00000366630.1 - 8 2727 c.2369C>T c.(2368-2370)gCa>gTa p.A790V SIPA1L2_ENST00000262861.4_Missense_Mutation_p.A790V Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 2 790 Rap-GAP. regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 103 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) TTTATGGGCTGCATTTTCTGC 0.488000 4 138 0 0 0.184627 0 0 TNFAIP3 7128 broad.mit.edu 37 6 138198247 138198247 + Silent SNP G G A TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr6:138198247G>A ENST00000237289.4 + 6 906 c.840G>A c.(838-840)cgG>cgA p.R280R TNFAIP3_ENST00000485192.1_3'UTR NM_001270507.1|NM_001270508.1|NM_006290.3 NP_001257436.1|NP_001257437.1|NP_006281.1 P21580 TNAP3_HUMAN tumor necrosis factor, alpha-induced protein 3 280 TRAF-binding. anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide centrosome|cytosol|nucleus caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding p.0?(25)|p.R280fs*1(1) breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 225 Breast(32;0.135)|Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468) ACAGAGACCGGGGAAGATTTG 0.358000 """D, N, F""" """marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma""" 13 47 0 0 0.500413 0 0 NPFFR1 64106 broad.mit.edu 37 10 72026088 72026088 + Missense_Mutation SNP C C T TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr10:72026088C>T ENST00000277942.6 - 2 66 c.67G>A c.(67-69)Gag>Aag p.E23K NM_022146.4 NP_071429.1 Q9GZQ6 NPFF1_HUMAN neuropeptide FF receptor 1 integral to membrane|plasma membrane neuropeptide receptor activity endometrium(2)|lung(1) 3 GGGGTGGCCTCAGTGTTAGTC 0.557000 5 27 0 0 0.184627 0 0 HEATR1 55127 broad.mit.edu 37 1 236716940 236716940 + Missense_Mutation SNP A A G TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr1:236716940A>G ENST00000366582.3 - 43 6292 c.6178T>C c.(6178-6180)Tct>Cct p.S2060P HEATR1_ENST00000366581.2_Missense_Mutation_p.S1979P NM_018072.5 NP_060542.4 Q9H583 HEAT1_HUMAN HEAT repeat containing 1 2060 rRNA processing nucleolus|ribonucleoprotein complex protein binding NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 87 Ovarian(103;0.0634)|Breast(184;0.133) all_cancers(173;0.0255)|Prostate(94;0.175) OV - Ovarian serous cystadenocarcinoma(106;0.00117) TTCCAAAGAGAGTCATCCGCC 0.493000 16 55 0 0 0.760397 0 0 GPR110 266977 broad.mit.edu 37 6 46969267 46969267 + Missense_Mutation SNP G G A TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr6:46969267G>A ENST00000371253.2 - 14 2845 c.2630C>T c.(2629-2631)tCa>tTa p.S877L GPR110_ENST00000283297.5_Missense_Mutation_p.S680L|GPR110_ENST00000449332.2_5'UTR NM_153840.2 NP_722582.2 Q5T601 GP110_HUMAN G protein-coupled receptor 110 877 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 29 GAAAGGCTTTGAGAATTTGGG 0.313000 9 18 0 0 0.387290 0 0 PCDHB15 56121 broad.mit.edu 37 5 140626734 140626734 + Missense_Mutation SNP C C T TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr5:140626734C>T ENST00000231173.3 + 1 1588 c.1588C>T c.(1588-1590)Cgc>Tgc p.R530C NM_018935.2 NP_061758.1 Q9Y5E8 PCDBF_HUMAN 530 Cadherin 5. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 61 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TTTCGAGTTCCGCGTGGGCGC 0.662000 33 78 0 0 0.750413 0 0 KDM6A 7403 broad.mit.edu 37 X 44870260 44870260 + Nonsense_Mutation SNP C C T TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chrX:44870260C>T ENST00000377967.4 + 5 480 c.439C>T c.(439-441)Cag>Tag p.Q147* KDM6A_ENST00000382899.4_Nonsense_Mutation_p.Q147*|KDM6A_ENST00000536777.1_Nonsense_Mutation_p.Q147*|KDM6A_ENST00000543216.1_Nonsense_Mutation_p.Q147* NM_021140.2 NP_066963.2 O15550 KDM6A_HUMAN lysine (K)-specific demethylase 6A 147 histone H3-K4 methylation metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen p.0(12)|p.0?(6)|p.?(1) NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29) 170 TAATGCATTTCAGTGGTAAGT 0.318000 """D, N, F, S""" """renal, oesophageal SCC, MM""" 10 4 0 0 0.361761 0 0 DNTT 1791 broad.mit.edu 37 10 98078110 98078110 + Splice_Site SNP G G A TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr10:98078110G>A ENST00000419175.1 + 2 375 c.205G>A c.(205-207)Gat>Aat p.D69N DNTT_ENST00000371174.2_Splice_Site_p.D69N NM_001017520.1|NM_004088.3 NP_001017520.1|NP_004079.3 P04053 TDT_HUMAN DNA nucleotidylexotransferase 69 BRCT. DNA modification nucleus DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 27 Colorectal(252;0.0815)|all_hematologic(284;0.224) Epithelial(162;7.97e-08)|all cancers(201;1.89e-06) ATTTTGCAGTGATTCTGTCAC 0.458000 55 83 0 0 0.870114 0 0 NBEA 26960 broad.mit.edu 37 13 36026232 36026232 + Missense_Mutation SNP C C T TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr13:36026232C>T ENST00000540320.1 + 40 6842 c.6308C>T c.(6307-6309)aCg>aTg p.T2103M NBEA_ENST00000379939.2_Missense_Mutation_p.T2100M|NBEA_ENST00000400445.3_Missense_Mutation_p.T2103M|NBEA_ENST00000310336.4_Missense_Mutation_p.T2103M Q8NFP9 NBEA_HUMAN neurobeachin 2103 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 108 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) TGATTAGGCACGGAAGAAGAT 0.308000 9 12 0 0 0.411799 0 0 ARID1A 8289 broad.mit.edu 37 1 27100151 27100152 + Frame_Shift_Ins INS - - G TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr1:27100151_27100152insG ENST00000324856.7 + 16 4318_4319 c.3947_3948insG c.(3946-3951)tcggggfs p.SG1316fs ARID1A_ENST00000540690.1_5'UTR|ARID1A_ENST00000457599.2_Frame_Shift_Ins_p.SG1316fs|ARID1A_ENST00000374152.2_Frame_Shift_Ins_p.SG933fs NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 1316 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding p.M1318fs*163(1) ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) AACCCAGACTCGGGGATGTATT 0.589 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 28 79 --- --- --- --- RP11-649A16.1 0 broad.mit.edu 37 3 146995076 146995077 + RNA INS - - A TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr3:146995076_146995077insA ENST00000473299.1 - 0 132 TTCTGGACTGtaaaaaaaaaaa 0.292 2 4 --- --- --- --- NAPEPLD 222236 broad.mit.edu 37 7 102760122 102760123 + Frame_Shift_Ins INS - - A rs147416689 by1000genomes TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr7:102760122_102760123insA ENST00000417955.1 - 3 996_997 c.842_843insT c.(841-843)ttcfs p.F281fs NAPEPLD_ENST00000465647.1_Frame_Shift_Ins_p.F281fs|NAPEPLD_ENST00000427257.1_Frame_Shift_Ins_p.F281fs|NAPEPLD_ENST00000341533.4_Frame_Shift_Ins_p.F281fs|NAPEPLD_ENST00000455523.2_Frame_Shift_Ins_p.F354fs Q6IQ20 NAPEP_HUMAN N-acyl phosphatidylethanolamine phospholipase D 281 Missing (in Ref. 3; CAI56779). phospholipid catabolic process membrane metal ion binding p.F281fs*14(1) endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 17 TATCTCCTGCGAAAAAAAATCG 0.460 17 56 --- --- --- --- BEST3 144453 broad.mit.edu 37 12 70091534 70091534 + Frame_Shift_Del DEL A A - TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr12:70091534delA ENST00000330891.5 - 2 271 c.45delT c.(43-45)tttfs p.F15fs BEST3_ENST00000551160.1_Intron|BEST3_ENST00000331471.4_Frame_Shift_Del_p.F15fs|BEST3_ENST00000476098.1_Intron|BEST3_ENST00000266661.4_Intron|BEST3_ENST00000533674.1_Intron|BEST3_ENST00000393365.1_5'UTR|BEST3_ENST00000553096.1_Intron NM_001282613.1|NM_032735.2 NP_001269542.1|NP_116124.2 Q8N1M1 BEST3_HUMAN bestrophin 3 15 chloride channel complex|plasma membrane chloride channel activity cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2) 12 Breast(13;2.31e-06)|Esophageal squamous(21;0.187) Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694) TATGAAATCCAAAAAAAGTTG 0.353 9 2947 --- --- --- --- IGHV4OR15-8 28317 broad.mit.edu 37 15 22473268 22473268 + RNA DEL G G - TCGA-G2-A2EK-01A-22D-A18F-08 TCGA-G2-A2EK-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb73bb35-af99-47b8-8bbb-33b5374e5c74 5f625d04-86a8-48d3-8f6c-4000194a279e g.chr15:22473268delG ENST00000557788.2 - 0 46 ATCAGAGGCAGCCTCCCCTAT 0.582 7 73 --- --- --- ---