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 LOX 4015 broad.mit.edu 37 5 121405748 121405748 + Splice_Site SNP G G T TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr5:121405748G>T ENST00000231004.4 - 6 1546 c.1247_splice c.e6+1 p.P416_splice SRFBP1_ENST00000504881.1_Intron|LOX_ENST00000513319.1_5'UTR NM_001178102.1|NM_002317.5 NP_001171573.1|NP_002308.2 P28300 LYOX_HUMAN lysyl oxidase 416 Lysyl-oxidase like. protein modification process extracellular space copper ion binding|protein-lysine 6-oxidase activity endometrium(1)|lung(6)|prostate(1) 8 all_cancers(142;0.0124)|Prostate(80;0.0322)|Ovarian(225;0.0814)|Breast(839;0.143) KIRC - Kidney renal clear cell carcinoma(527;0.206) Epithelial(69;2.14e-11)|OV - Ovarian serous cystadenocarcinoma(64;7.87e-10)|all cancers(49;2.49e-09)|COAD - Colon adenocarcinoma(49;0.02) TAACACTTACGGTGAAATTGT 0.398000 4 49 0.150653 0.153667 1 1 0 PMFBP1 83449 broad.mit.edu 37 16 72163076 72163076 + Silent SNP T T A TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr16:72163076T>A ENST00000537465.1 - 13 2012 c.1854A>T c.(1852-1854)acA>acT p.T618T PMFBP1_ENST00000355636.6_Silent_p.T468T|PMFBP1_ENST00000237353.10_Silent_p.T613T Q8TBY8 PMFBP_HUMAN polyamine modulated factor 1 binding protein 1 618 NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1) 45 Ovarian(137;0.179) CCAGAAGCTTTGTGGCCTCCT 0.438000 23 300 0 0 1 0 0 DMRT3 58524 broad.mit.edu 37 9 990334 990334 + Missense_Mutation SNP C C A TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr9:990334C>A ENST00000190165.2 + 2 786 c.748C>A c.(748-750)Ccg>Acg p.P250T NM_021240.2 NP_067063.1 Q9NQL9 DMRT3_HUMAN doublesex and mab-3 related transcription factor 3 250 cell differentiation|multicellular organismal development|sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 26 all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08) Lung(218;0.0196) AGCCAACAGACCGCCGCTTGA 0.587000 6 93 0.0215528 0.0229956 1 1 0 THOC6 79228 broad.mit.edu 37 16 3075959 3075959 + Missense_Mutation SNP G G A TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr16:3075959G>A ENST00000326266.8 + 3 486 c.190G>A c.(190-192)Gaa>Aaa p.E64K THOC6_ENST00000574549.1_Missense_Mutation_p.E40K|THOC6_ENST00000253952.9_Missense_Mutation_p.E64K|THOC6_ENST00000575576.1_Missense_Mutation_p.E40K NM_024339.3 NP_077315.2 Q86W42 THOC6_HUMAN THO complex 6 homolog (Drosophila) 64 intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing THO complex part of transcription export complex RNA binding central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1) 13 AGCCAAAGAGGAAAGTAAGAA 0.557000 22 151 0 0 1 0 0 FAM154B 283726 broad.mit.edu 37 15 82575165 82575165 + Missense_Mutation SNP G G T TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr15:82575165G>T ENST00000339465.5 + 3 1028 c.959G>T c.(958-960)aGa>aTa p.R320I FAM154B_ENST00000565501.1_3'UTR|FAM154B_ENST00000427381.2_Missense_Mutation_p.R305I NM_001008226.1 NP_001008227.1 Q658L1 F154B_HUMAN family with sequence similarity 154, member B 320 autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2) 19 AGCACTTTCAGATCTCACTAT 0.393000 7 72 0.0477658 0.0497154 1 1 0 POTEF 728378 broad.mit.edu 37 2 130832688 130832688 + Missense_Mutation SNP C C A TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr2:130832688C>A ENST00000357462.5 - 15 2450 c.2357G>T c.(2356-2358)tGg>tTg p.W786L POTEF_ENST00000409914.2_Missense_Mutation_p.W786L A5A3E0 POTEF_HUMAN POTE ankyrin domain family, member F 786 Actin-like. cell cortex ATP binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 53 GGTGTGGTGCCAGATCTTCTC 0.587000 14 110 2.31682e-05 3.01423e-05 1 1 0 SI 6476 broad.mit.edu 37 3 164737459 164737459 + Silent SNP T T C TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr3:164737459T>C ENST00000264382.3 - 28 3416 c.3354A>G c.(3352-3354)gaA>gaG p.E1118E NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 1118 Sucrase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) ATGCTGTATGTTCCACTTCCC 0.448000 HNSCC(35;0.089) 4 74 0 0 1 0 0 RC3H1 149041 broad.mit.edu 37 1 173951987 173951987 + Missense_Mutation SNP C C T TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr1:173951987C>T ENST00000367696.2 - 5 997 c.646G>A c.(646-648)Gct>Act p.A216T RC3H1_ENST00000258349.4_Missense_Mutation_p.A216T|RC3H1_ENST00000367694.2_Missense_Mutation_p.A216T Q5TC82 RC3H1_HUMAN ring finger and CCCH-type domains 1 216 cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway cytoplasmic mRNA processing body|stress granule mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 50 CTTGACAAAGCAGAACCATCT 0.423000 12 120 0 0 1 0 0 POTEF 728378 broad.mit.edu 37 2 130832687 130832687 + Missense_Mutation SNP C C A TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr2:130832687C>A ENST00000357462.5 - 15 2451 c.2358G>T c.(2356-2358)tgG>tgT p.W786C POTEF_ENST00000409914.2_Missense_Mutation_p.W786C A5A3E0 POTEF_HUMAN POTE ankyrin domain family, member F 786 Actin-like. cell cortex ATP binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 53 AGGTGTGGTGCCAGATCTTCT 0.587000 15 109 2.23348e-06 3.07859e-06 1 1 0 EXOSC8 11340 broad.mit.edu 37 13 37583435 37583435 + Nonstop_Mutation SNP A A T TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr13:37583435A>T ENST00000389704.3 + 11 1095 c.830A>T c.(829-831)tAa>tTa p.*277L NM_181503.2 NP_852480.1 Q96B26 EXOS8_HUMAN exosome component 8 0 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing cytosol|exosome (RNase complex)|nucleolus AU-rich element binding|identical protein binding biliary_tract(1)|breast(1)|kidney(2)|pancreas(1)|prostate(1)|skin(1) 7 Lung NSC(96;6.57e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184) all cancers(112;3.67e-07)|Epithelial(112;1.31e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00699)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0411) AAACCCAAATAAACAGCCACC 0.323000 4 17 0 0 1 0 0 FAM47C 442444 broad.mit.edu 37 X 37027567 37027567 + Missense_Mutation SNP C C A TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chrX:37027567C>A ENST00000358047.3 + 1 1136 c.1084C>A c.(1084-1086)Cgc>Agc p.R362S NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 362 breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 TCCAGAGACTCGCGTATCTCC 0.647000 15 48 1.49906e-05 1.97041e-05 1 1 0 MAGEB6 158809 broad.mit.edu 37 X 26212753 26212753 + Missense_Mutation SNP C C A TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chrX:26212753C>A ENST00000379034.1 + 2 939 c.790C>A c.(790-792)Ctt>Att p.L264I NM_173523.2 NP_775794.2 Q8N7X4 MAGB6_HUMAN melanoma antigen family B, 6 264 MAGE. breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2) 33 GTCCTACACCCTTGTCAGCAA 0.527000 12 66 9.05144e-12 1.49878e-11 1 1 0 HIST3H3 8290 broad.mit.edu 37 1 228612980 228612980 + Missense_Mutation SNP G G T TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr1:228612980G>T ENST00000366696.1 - 1 46 c.47C>A c.(46-48)gCg>gAg p.A16E NM_003493.2 NP_003484.1 Q16695 H31T_HUMAN histone cluster 3, H3 16 nucleosome assembly|telomere maintenance nucleoplasm|nucleosome DNA binding|protein binding large_intestine(1)|lung(2)|prostate(2)|skin(1) 6 Prostate(94;0.0724) CTTGCGCGGCGCCTTGCCACC 0.677000 17 82 1.37285e-15 2.36539e-15 1 1 0 SPHKAP 80309 broad.mit.edu 37 2 228855895 228855895 + Missense_Mutation SNP C C A TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr2:228855895C>A ENST00000392056.3 - 11 4826 c.4780G>T c.(4780-4782)Gca>Tca p.A1594S SPHKAP_ENST00000344657.5_Missense_Mutation_p.A1565S NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 1594 cytoplasm protein binding NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) GGTCCAGATGCAGGTGCTGAG 0.567000 6 85 0.00116845 0.00135433 1 1 0 PEAR1 375033 broad.mit.edu 37 1 156873754 156873754 + Silent SNP T T A TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr1:156873754T>A ENST00000338302.3 + 3 261 c.36T>A c.(34-36)gcT>gcA p.A12A PEAR1_ENST00000292357.7_Silent_p.A12A Q5VY43 PEAR1_HUMAN platelet endothelial aggregation receptor 1 12 integral to membrane breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1) 43 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) TTCTCCTGGCTGTGGGCCTGC 0.642000 22 127 0 0 1 0 0 WDR88 126248 broad.mit.edu 37 19 33623311 33623311 + Missense_Mutation SNP C C A TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr19:33623311C>A ENST00000361680.2 + 1 314 c.236C>A c.(235-237)cCg>cAg p.P79Q WDR88_ENST00000592765.1_Missense_Mutation_p.P79Q|WDR88_ENST00000355868.3_Missense_Mutation_p.P79Q Q6ZMY6 WDR88_HUMAN WD repeat domain 88 79 breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1) 25 Esophageal squamous(110;0.137) CACCAGGTGCCGGAGAAATTG 0.657000 5 62 3.59834e-05 4.58788e-05 1 1 0 TNR 7143 broad.mit.edu 37 1 175331934 175331934 + Missense_Mutation SNP C C G TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr1:175331934C>G ENST00000367674.1 - 14 3427 c.2719G>C c.(2719-2721)Gac>Cac p.D907H TNR_ENST00000263525.2_Missense_Mutation_p.D907H NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R 907 Fibronectin type-III 7. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) ACTGAGCTGTCTAGTCGTCCC 0.498000 8 115 0 0 1 0 0 FRMPD1 22844 broad.mit.edu 37 9 37745022 37745022 + Missense_Mutation SNP G G A TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr9:37745022G>A ENST00000539465.1 + 16 3586 c.2993G>A c.(2992-2994)gGg>gAg p.G998E RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Missense_Mutation_p.G998E Q5SYB0 FRPD1_HUMAN FERM and PDZ domain containing 1 998 cytoskeleton|cytosol|plasma membrane NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 GBM - Glioblastoma multiforme(29;0.00655) GACCTGGATGGGATTGCCCCC 0.547000 14 123 0 0 1 0 0 CDH9 1007 broad.mit.edu 37 5 26906191 26906191 + Nonsense_Mutation SNP C C A TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr5:26906191C>A ENST00000231021.4 - 5 860 c.688G>T c.(688-690)Gag>Tag p.E230* NM_016279.3 NP_057363.3 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 (T1-cadherin) 230 Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 137 TGGTACTGCTCTCTATTTTCT 0.408000 17 104 3.52763e-06 4.83627e-06 1 1 0 FIGN 55137 broad.mit.edu 37 2 164466622 164466622 + Missense_Mutation SNP C C A TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr2:164466622C>A ENST00000333129.3 - 3 2034 c.1720G>T c.(1720-1722)Gcc>Tcc p.A574S FIGN_ENST00000409634.1_Intron NM_018086.2 NP_060556.2 Q5HY92 FIGN_HUMAN fidgetin 574 nuclear matrix ATP binding|nucleoside-triphosphatase activity breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1) 47 CGACACCTGGCCACAAGAAAA 0.478000 7 70 0.00198382 0.00226849 1 1 0 KLHL4 56062 broad.mit.edu 37 X 86887275 86887275 + Missense_Mutation SNP G G T TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chrX:86887275G>T ENST00000373119.4 + 7 1535 c.1390G>T c.(1390-1392)Ggc>Tgc p.G464C KLHL4_ENST00000373114.4_Missense_Mutation_p.G464C NM_019117.4 NP_061990.2 Q9C0H6 KLHL4_HUMAN kelch-like family member 4 464 cytoplasm|microtubule cytoskeleton|nucleolus actin binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1) 67 CACCATGAATGGCCGTAGGCT 0.388000 5 38 0.000602214 0.000717592 1 1 0 FAM135B 51059 broad.mit.edu 37 8 139209823 139209823 + Silent SNP C C A TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr8:139209823C>A ENST00000395297.1 - 8 929 c.759G>T c.(757-759)cgG>cgT p.R253R NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 253 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) GACGGAGACCCCGGTAAGCGT 0.607000 HNSCC(54;0.14) 23 74 3.7963e-18 6.86566e-18 1 1 0 BAP1 8314 broad.mit.edu 37 3 52437782 52437782 + Nonsense_Mutation SNP G G C TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr3:52437782G>C ENST00000460680.1 - 13 1850 c.1379C>G c.(1378-1380)tCa>tGa p.S460* BAP1_ENST00000296288.5_Nonsense_Mutation_p.S442* NM_004656.2 NP_004647.1 Q92560 BAP1_HUMAN BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase) 460 monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process cytoplasm|nucleolus|PR-DUB complex chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity p.S460*(2) NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2) 180 BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277) CAGAGGAATTGAGAGGTCCTT 0.587000 """N, Mis, F, S, O""" """uveal melanoma, breast, NSCLC, RCC""" """mesothelioma, uveal melanoma""" 9 63 0 0 1 0 0 GSDMA 284110 broad.mit.edu 37 17 38122577 38122577 + Silent SNP G G T TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr17:38122577G>T ENST00000301659.4 + 3 397 c.279G>T c.(277-279)gtG>gtT p.V93V NM_178171.4 NP_835465.2 Q96QA5 GSDMA_HUMAN gasdermin A 93 apoptosis|induction of apoptosis perinuclear region of cytoplasm NS(1)|endometrium(2)|large_intestine(3)|lung(1) 7 AGGGAGATGTGGATGTACCAA 0.562000 7 93 0.00448238 0.00505755 1 1 0 C20orf26 26074 broad.mit.edu 37 20 20079339 20079339 + Missense_Mutation SNP G G T TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr20:20079339G>T ENST00000245957.5 + 8 816 c.740G>T c.(739-741)aGa>aTa p.R247I C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000377306.1_Missense_Mutation_p.R247I|C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000451767.2_Missense_Mutation_p.R247I NM_015585.3 NP_056400.3 Q8NHU2 CT026_HUMAN chromosome 20 open reading frame 26 247 NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 77 READ - Rectum adenocarcinoma(2;0.171) GTGTGCTCAAGAGTGAACATG 0.433000 21 147 8.04996e-18 1.43548e-17 1 1 0 AADACL2 344752 broad.mit.edu 37 3 151463350 151463350 + Missense_Mutation SNP C C T TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr3:151463350C>T ENST00000356517.3 + 4 594 c.485C>T c.(484-486)gCt>gTt p.A162V NM_207365.3 NP_997248.2 Q6P093 ADCL2_HUMAN arylacetamide deacetylase-like 2 162 extracellular region|integral to membrane carboxylesterase activity p.A162D(1)|p.A140D(1) NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2) 24 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813) GATGGCCTTGCTGCAGTCAAA 0.408000 28 226 0 0 1 0 0 IGKV3D-11 28876 broad.mit.edu 37 2 90211781 90211781 + RNA SNP G G T TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr2:90211781G>T ENST00000390277.2 + 0 139 TGCTACTCTGGCTCCCAGGTG 0.498000 10 92 9.31168e-06 1.25634e-05 1 1 0 OR10H5 284433 broad.mit.edu 37 19 15905624 15905624 + Missense_Mutation SNP G G T TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr19:15905624G>T ENST00000308940.8 + 1 864 c.766G>T c.(766-768)Gcc>Tcc p.A256S NM_001004466.1 NP_001004466.1 Q8NGA6 O10H5_HUMAN olfactory receptor, family 10, subfamily H, member 5 256 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1) 20 CTATGGCTTTGCCTCCGTCAT 0.577000 10 71 3.86212e-05 4.8997e-05 1 1 0 ZNRD1-AS1 80862 broad.mit.edu 37 6 29974802 29974802 + RNA SNP T T A TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr6:29974802T>A ENST00000376797.3 - 0 1346 ZNRD1-AS1_ENST00000448093.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA ACTGACCGAGTGAACCTGCGG 0.672000 3 17 0 0 1 0 0 SLC16A7 9194 broad.mit.edu 37 12 60173372 60173372 + Missense_Mutation SNP C C G TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr12:60173372C>G ENST00000261187.4 + 5 1513 c.1349C>G c.(1348-1350)cCc>cGc p.P450R SLC16A7_ENST00000552024.1_Missense_Mutation_p.P450R|SLC16A7_ENST00000547379.1_Missense_Mutation_p.P450R|SLC16A7_ENST00000552432.1_Missense_Mutation_p.P450R|SLC16A7_ENST00000543448.1_Missense_Mutation_p.P351R NM_001270622.1|NM_001270623.1|NM_004731.3 NP_001257551.1|NP_001257552.1|NP_004722.2 O60669 MOT2_HUMAN solute carrier family 16 (monocarboxylate transporter), member 7 450 integral to plasma membrane|membrane fraction pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1) 30 GBM - Glioblastoma multiforme(3;0.0303) Pyruvic acid(DB00119) GAATCTGAACCCTTGAGCAAA 0.403000 3 37 0 0 1 0 0 RXFP2 122042 broad.mit.edu 37 13 32376302 32376302 + Silent SNP A A T TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr13:32376302A>T ENST00000298386.2 + 18 2096 c.2025A>T c.(2023-2025)atA>atT p.I675I RXFP2_ENST00000380314.1_Silent_p.I651I NM_130806.3 NP_570718.1 Q8WXD0 RXFP2_HUMAN relaxin/insulin-like family peptide receptor 2 675 integral to membrane|plasma membrane cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1) 33 Lung SC(185;0.0262) all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535) CTTCCTGGATAGTGATTTTTT 0.348000 6 54 0 0 1 0 0 SI 6476 broad.mit.edu 37 3 164764801 164764801 + Splice_Site SNP C C A TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr3:164764801C>A ENST00000264382.3 - 16 1778 c.e16-1 NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) TTGTACAGCTCTAAAAATAAA 0.294000 HNSCC(35;0.089) 7 45 8.12818e-05 0.000101602 1 1 0 WBP11P1 441818 broad.mit.edu 37 18 30093348 30093348 + RNA SNP G G C TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr18:30093348G>C ENST00000567636.1 + 0 1723 NR_003558.1 CTGGCACGATGCACCCAGCTT 0.483000 5 62 0 0 1 0 0 HELZ 9931 broad.mit.edu 37 17 65103684 65103684 + Silent SNP G G A TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr17:65103684G>A ENST00000358691.5 - 31 5008 c.4842C>T c.(4840-4842)agC>agT p.S1614S HELZ_ENST00000580168.1_Silent_p.S1615S NM_014877.3 NP_055692.2 helicase with zinc finger NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13) CTGCTGGTGGGCTTCTACTCT 0.458000 12 202 0 0 1 0 0 SIRT5 23408 broad.mit.edu 37 6 13588622 13588622 + Missense_Mutation SNP G G T TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr6:13588622G>T ENST00000606117.1 + 4 471 c.175G>T c.(175-177)Gct>Tct p.A59S SIRT5_ENST00000397350.2_Intron|SIRT5_ENST00000359782.3_Missense_Mutation_p.A59S|SIRT5_ENST00000379262.4_Missense_Mutation_p.A59S NM_012241.4 NP_036373.1 Q9NXA8 SIRT5_HUMAN sirtuin 5 59 Deacetylase sirtuin-type. chromatin silencing|protein ADP-ribosylation|protein deacetylation mitochondrial intermembrane space|mitochondrial matrix hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|zinc ion binding breast(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 11 Breast(50;0.00669)|Ovarian(93;0.0634) all_hematologic(90;0.117) Epithelial(50;0.176) Suramin(DB04786) CATCTCAGGAGCTGGTGTTAG 0.408000 6 64 0.0215528 0.0229956 1 1 0 CT47B1 643311 broad.mit.edu 37 X 120007837 120007837 + Missense_Mutation SNP C C A TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chrX:120007837C>A ENST00000371311.3 - 2 1067 c.813G>T c.(811-813)gaG>gaT p.E271D NM_001145718.1 NP_001139190.1 P0C2W7 CT47B_HUMAN cancer/testis antigen family 47, member B1 271 breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1) 22 CATCTTGGGCCTCTTCATCCC 0.443000 27 323 7.38237e-10 1.17656e-09 1 1 0 INTS4 92105 broad.mit.edu 37 11 77630019 77630019 + Silent SNP T T A TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr11:77630019T>A ENST00000534064.1 - 15 1804 c.1770A>T c.(1768-1770)ccA>ccT p.P590P NM_033547.3 NP_291025.3 Q96HW7 INT4_HUMAN integrator complex subunit 4 590 snRNA processing integrator complex protein binding INTS4/GAB2(2) NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1) 32 all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152) Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23) GTTTTCTACCTGGTAACTAAG 0.443000 11 99 0 0 1 0 0 HIST1H2AG 8969 broad.mit.edu 37 6 27101068 27101068 + Missense_Mutation SNP A A G TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr6:27101068A>G ENST00000359193.2 + 1 237 c.218A>G c.(217-219)gAc>gGc p.D73G NM_021064.4 NP_066408.1 P0C0S8 H2A1_HUMAN histone cluster 1, H2ag 73 nucleosome assembly nucleosome|nucleus DNA binding|enzyme binding biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1) 17 GCGGCCCGCGACAACAAGAAG 0.657000 14 95 0 0 1 0 0 DIP2B 57609 broad.mit.edu 37 12 51072584 51072584 + Missense_Mutation SNP G G T TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr12:51072584G>T ENST00000301180.5 + 8 1073 c.1039G>T c.(1039-1041)Ggt>Tgt p.G347C NM_173602.2 NP_775873.2 Q9P265 DIP2B_HUMAN DIP2 disco-interacting protein 2 homolog B (Drosophila) 347 nucleus catalytic activity|transcription factor binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2) 60 GCAGCGCTGGGGTACCACTCA 0.532000 5 64 5.9392e-07 8.5084e-07 1 1 0 SNHG14 104472715 broad.mit.edu 37 15 25327735 25327735 + RNA SNP G G T TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr15:25327735G>T ENST00000546682.1 + 0 71 SNHG14_ENST00000549804.2_RNA NR_003361.1 GTACTTCCTAGGTGGTGTGGG 0.537000 3 16 0.004672 0.00522526 1 1 0 ZNF16 7564 broad.mit.edu 37 8 146156419 146156419 + Missense_Mutation SNP C C A TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr8:146156419C>A ENST00000276816.4 - 4 1940 c.1754G>T c.(1753-1755)aGc>aTc p.S585I ZNF16_ENST00000394909.2_Missense_Mutation_p.S585I NM_001029976.2 NP_001025147.2 P17020 ZNF16_HUMAN zinc finger protein 16 585 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1) 29 all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Acute lymphoblastic leukemia(644;0.136) Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055) GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486) GAGATTTGAGCTTCGGTTGAA 0.473000 19 63 7.45023e-12 1.2417e-11 1 1 0 OXCT2 64064 broad.mit.edu 37 1 40236169 40236169 + Silent SNP A A G TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr1:40236169A>G ENST00000327582.5 - 1 851 c.759T>C c.(757-759)gcT>gcC p.A253A BMP8B_ENST00000397360.2_Intron|BMP8B_ENST00000372827.3_Intron NM_022120.1 NP_071403.1 Q9BYC2 SCOT2_HUMAN 3-oxoacid CoA transferase 2 253 ketone body catabolic process microtubule-based flagellum|mitochondrion 3-oxoacid CoA-transferase activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|pancreas(1)|upper_aerodigestive_tract(1) 6 all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) Succinic acid(DB00139) CTGGGGGGAAAGCCCCCACCT 0.527000 OREG0013400 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 106 0 0 1 0 0 KLRC2 3822 broad.mit.edu 37 12 10583758 10583758 + Silent SNP C C T TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr12:10583758C>T ENST00000381902.2 - 6 660 c.654G>A c.(652-654)caG>caA p.Q218Q KLRC2_ENST00000536833.2_Silent_p.Q159Q|KLRC2_ENST00000381901.1_Silent_p.Q218Q|NKG2-E_ENST00000539033.1_Intron NM_002260.3 NP_002251.2 P26717 NKG2C_HUMAN killer cell lectin-like receptor subfamily C, member 2 218 C-type lectin. cellular defense response integral to plasma membrane sugar binding|transmembrane receptor activity kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1) 11 AAGATCCACACTGGGCTGATT 0.328000 10 118 0 0 1 0 0 AKR1B10 57016 broad.mit.edu 37 7 134221871 134221871 + Silent SNP T T A TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr7:134221871T>A ENST00000359579.4 + 6 941 c.621T>A c.(619-621)gtT>gtA p.V207V NM_020299.4 NP_064695.3 O60218 AK1BA_HUMAN aldo-keto reductase family 1, member B10 (aldose reductase) 207 cellular aldehyde metabolic process|digestion|steroid metabolic process cytoplasm aldo-keto reductase (NADP) activity|protein binding NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5) 20 GCATCACCGTTACGGCCTACA 0.488000 6 36 0 0 1 0 0 ADAMTS12 81792 broad.mit.edu 37 5 33616002 33616002 + Missense_Mutation SNP C C A TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr5:33616002C>A ENST00000504830.1 - 15 2654 c.2319G>T c.(2317-2319)caG>caT p.Q773H ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.Q688H NM_030955.2 NP_112217.2 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 12 773 Spacer 1. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 216 TCCTGTCATACTGAAAGACAG 0.478000 HNSCC(64;0.19) 9 118 0.000442599 0.000537442 1 1 0 HCFC2 29915 broad.mit.edu 37 12 104497029 104497029 + Missense_Mutation SNP A A G TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr12:104497029A>G ENST00000229330.4 + 15 2461 c.2357A>G c.(2356-2358)aAt>aGt p.N786S HCFC2_ENST00000550335.1_3'UTR NM_013320.2 NP_037452.1 Q9Y5Z7 HCFC2_HUMAN host cell factor C2 786 regulation of transcription from RNA polymerase II promoter|viral reproduction cytoplasm|nucleus transcription coactivator activity breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 35 CAAGGTAACAATAAGAAAGCA 0.343000 10 70 0 0 1 0 0 ANGPT4 51378 broad.mit.edu 37 20 868992 868992 + Nonsense_Mutation SNP G G A TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr20:868992G>A ENST00000381922.3 - 3 658 c.556C>T c.(556-558)Cag>Tag p.Q186* ANGPT4_ENST00000546022.1_Nonsense_Mutation_p.Q186* NM_015985.2 NP_057069.1 Q9Y264 ANGP4_HUMAN angiopoietin 4 186 anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction extracellular space receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1) 27 TGGAGCTTCTGCCTCTGTAGC 0.582000 15 63 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141777510 141777510 + Missense_Mutation SNP C C A TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr2:141777510C>A ENST00000389484.3 - 12 2922 c.1951G>T c.(1951-1953)Gtg>Ttg p.V651L NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 651 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) GGATCCACCACAATTCCTCTG 0.348000 TSP Lung(27;0.18) 11 80 0.00829132 0.00915275 1 1 0 SUCO 51430 broad.mit.edu 37 1 172558600 172558600 + Missense_Mutation SNP A A G TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr1:172558600A>G ENST00000367723.3 + 17 2939 c.2815A>G c.(2815-2817)Ata>Gta p.I939V SUCO_ENST00000263688.3_Missense_Mutation_p.I787V NM_016227.2 NP_057311.2 SUN domain containing ossification factor CTTTAGTTCTATAGAGAAACC 0.333000 9 52 0 0 1 0 0 TET1 80312 broad.mit.edu 37 10 70404509 70404509 + Missense_Mutation SNP A A G rs141988009 TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr10:70404509A>G ENST00000373644.4 + 4 2232 c.2023A>G c.(2023-2025)Agt>Ggt p.S675G NM_030625.2 NP_085128.2 Q8NFU7 TET1_HUMAN tet methylcytosine dioxygenase 1 675 DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2) 21 CATGGACTACAGTAGATGTGG 0.373000 6 47 0 0 1 0 0 CD3D 915 broad.mit.edu 37 11 118210617 118210617 + Silent SNP G G A rs111033581 TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr11:118210617G>A ENST00000300692.4 - 3 415 c.279C>T c.(277-279)tgC>tgT p.C93C CD3D_ENST00000529594.1_Silent_p.C20C|CD3D_ENST00000392884.2_Intron NM_000732.4 NP_000723.1 P04234 CD3D_HUMAN CD3d molecule, delta (CD3-TCR complex) 93 positive thymic T cell selection|T cell costimulation|T cell receptor signaling pathway cytoplasm|integral to membrane protein heterodimerization activity large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2) 9 all_hematologic(175;0.046) Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.04e-05) CACAGCTCTGGCACACTGTGG 0.547000 7 56 0 0 1 0 0 SEMA3C 10512 broad.mit.edu 37 7 80430137 80430137 + Missense_Mutation SNP C C A TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr7:80430137C>A ENST00000265361.3 - 10 1483 c.922G>T c.(922-924)Gtg>Ttg p.V308L SEMA3C_ENST00000536800.1_Missense_Mutation_p.V160L|SEMA3C_ENST00000419255.2_Missense_Mutation_p.V308L|SEMA3C_ENST00000544525.1_Missense_Mutation_p.V326L NM_006379.3 NP_006370.1 Q99985 SEM3C_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C 308 Sema. immune response|response to drug membrane receptor activity NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 34 AGCAGAAACACATCCTCTATA 0.279000 8 73 0.00448238 0.00505755 1 1 0 TACR3 6870 broad.mit.edu 37 4 104510989 104510989 + Missense_Mutation SNP G G T TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr4:104510989G>T ENST00000304883.2 - 5 1388 c.1248C>A c.(1246-1248)aaC>aaA p.N416K RP11-297P16.3_ENST00000512401.1_RNA|RP11-297P16.3_ENST00000502936.1_RNA NM_001059.2 NP_001050.1 P29371 NK3R_HUMAN tachykinin receptor 3 416 integral to plasma membrane tachykinin receptor activity breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 51 Hepatocellular(203;0.217) UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08) TGTCTGCATCGTTGGGGTCAA 0.522000 23 198 1.85244e-09 2.88032e-09 1 1 0 IFI27L2 83982 broad.mit.edu 37 14 94595620 94595620 + Missense_Mutation SNP C C T TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr14:94595620C>T ENST00000238609.3 - 2 115 c.16G>A c.(16-18)Gct>Act p.A6T IFI27L2_ENST00000556727.1_5'UTR NM_032036.2 NP_114425.1 Q9H2X8 I27L2_HUMAN interferon, alpha-inducible protein 27-like 2 6 integral to membrane breast(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1) 8 GCAGCAGCAGCTGCCCGTTCT 0.627000 3 29 0 0 1 0 0 OR2F2 135948 broad.mit.edu 37 7 143632554 143632554 + Missense_Mutation SNP G G C TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr7:143632554G>C ENST00000408955.2 + 1 296 c.229G>C c.(229-231)Gta>Cta p.V77L NM_001004685.1 NP_001004685.1 O95006 OR2F2_HUMAN olfactory receptor, family 2, subfamily F, member 2 77 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.V77I(2) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1) 32 Melanoma(164;0.0903) TGCCACAAGCGTAGTCCCCCA 0.512000 33 267 0 0 1 0 0 SLCO6A1 133482 broad.mit.edu 37 5 101834266 101834266 + Missense_Mutation SNP C C T TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr5:101834266C>T ENST00000506729.1 - 1 454 c.283G>A c.(283-285)Gtc>Atc p.V95I SLCO6A1_ENST00000379810.1_Missense_Mutation_p.V95I|SLCO6A1_ENST00000513675.1_Missense_Mutation_p.V95I|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.V95I|SLCO6A1_ENST00000514551.1_5'UTR|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.V95I Q86UG4 SO6A1_HUMAN solute carrier organic anion transporter family, member 6A1 95 Cys-rich. integral to membrane|plasma membrane transporter activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323) Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113) CAGGTGCTGACTAAGCAGCCC 0.498000 13 133 0 0 1 0 0 TGM4 7047 broad.mit.edu 37 3 44948575 44948575 + Missense_Mutation SNP C C A TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr3:44948575C>A ENST00000296125.4 + 10 1278 c.1210C>A c.(1210-1212)Cag>Aag p.Q404K NM_003241.3 NP_003232.2 P49221 TGM4_HUMAN transglutaminase 4 404 peptide cross-linking|protein polyamination acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1) 38 BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686) L-Glutamine(DB00130) GGTGAATGGGCAGGAGGAGTT 0.478000 20 131 4.96729e-08 7.32173e-08 1 1 0 KIAA1009 22832 broad.mit.edu 37 6 84834881 84834881 + Missense_Mutation SNP C C A TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr6:84834881C>A ENST00000403245.3 - 27 4234 c.4120G>T c.(4120-4122)Gac>Tac p.D1374Y KIAA1009_ENST00000461137.1_5'UTR|KIAA1009_ENST00000257766.4_Missense_Mutation_p.D1298Y NM_014895.2 NP_055710.2 Q5TB80 QN1_HUMAN KIAA1009 1374 cell division|mitosis centrosome|nucleus|plasma membrane|spindle protein binding breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 43 all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258) BRCA - Breast invasive adenocarcinoma(397;0.089) AATATTGAGTCTAGTTCTGTG 0.413000 7 37 0.00198382 0.00226849 1 1 0 DPEP3 64180 broad.mit.edu 37 16 68009843 68009843 + Missense_Mutation SNP C C T TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr16:68009843C>T ENST00000268793.4 - 10 1740 c.1367G>A c.(1366-1368)aGc>aAc p.S456N NM_001129758.1|NM_022357.3 NP_001123230.1|NP_071752.3 Q9H4B8 DPEP3_HUMAN dipeptidase 3 431 meiosis anchored to membrane dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2) 20 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236) GCAGGATGTGCTCAGTTGCCC 0.612000 6 45 0 0 1 0 0 MAN2A1 4124 broad.mit.edu 37 5 109159499 109159499 + Missense_Mutation SNP G G T TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr5:109159499G>T ENST00000261483.4 + 16 3579 c.2527G>T c.(2527-2529)Gac>Tac p.D843Y NM_002372.2 NP_002363.2 Q16706 MA2A1_HUMAN mannosidase, alpha, class 2A, member 1 843 mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141) TTGCTTTTTTGACCATGTTAC 0.343000 10 76 1.08611e-07 1.59171e-07 1 1 0 C14orf166 51637 broad.mit.edu 37 14 52460441 52460441 + Splice_Site SNP T T C TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr14:52460441T>C ENST00000261700.3 + 3 352 c.186_splice c.e3-1 p.Y63_splice C14orf166_ENST00000556760.1_Splice_Site_p.Y63_splice NM_016039.2 NP_057123.1 Q9Y224 CN166_HUMAN chromosome 14 open reading frame 166 63 microtubule organizing center|nucleus|perinuclear region of cytoplasm|tRNA-splicing ligase complex identical protein binding endometrium(1)|large_intestine(3)|lung(2) 6 Breast(41;0.0639)|all_epithelial(31;0.101) CCCCTCACAGTATCTCAGAGA 0.378000 14 53 0 0 1 0 0 SMPX 23676 broad.mit.edu 37 X 21755740 21755740 + Missense_Mutation SNP G G C TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chrX:21755740G>C ENST00000379494.3 - 4 441 c.208C>G c.(208-210)Cta>Gta p.L70V SMPX_ENST00000494525.1_5'UTR NM_014332.2 NP_055147.1 Q9UHP9 SMPX_HUMAN small muscle protein, X-linked 70 striated muscle contraction breast(1)|endometrium(1) 2 ATTTCCGATAGATTGACTGCA 0.423000 14 47 0 0 1 0 0 NSUN4 387338 broad.mit.edu 37 1 46827252 46827252 + Missense_Mutation SNP C C A TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr1:46827252C>A ENST00000474844.1 + 6 1539 c.889C>A c.(889-891)Ctt>Att p.L297I NSUN4_ENST00000537428.1_Missense_Mutation_p.L248I|NSUN4_ENST00000498008.1_3'UTR|NSUN4_ENST00000536062.1_Missense_Mutation_p.L248I NM_199044.3 NP_950245.2 Q96CB9 NSUN4_HUMAN NOP2/Sun domain family, member 4 297 methyltransferase activity endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1) 8 Acute lymphoblastic leukemia(166;0.155) GGCTGGACTCCTTGCCACCAA 0.498000 12 111 0.010729 0.0117421 1 1 0 MAP4 4134 broad.mit.edu 37 3 47917344 47917344 + Missense_Mutation SNP T T C TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr3:47917344T>C ENST00000426837.2 - 12 5675 c.5588A>G c.(5587-5589)aAa>aGa p.K1863R MAP4_ENST00000462206.1_Intron|MAP4_ENST00000395734.3_Missense_Mutation_p.K718R|MAP4_ENST00000383737.4_Missense_Mutation_p.K446R|MAP4_ENST00000360240.6_Missense_Mutation_p.K718R|MAP4_ENST00000441748.2_Intron|MAP4_ENST00000264724.11_Missense_Mutation_p.K453R|MAP4_ENST00000420772.2_Intron P27816 MAP4_HUMAN microtubule-associated protein 4 718 negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2) 32 BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736) GGGCTGTGTTTTGGCTTTCGA 0.443000 12 152 0 0 1 0 0 TRPS1 7227 broad.mit.edu 37 8 116632032 116632032 + Missense_Mutation SNP C C A TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr8:116632032C>A ENST00000395715.3 - 3 870 c.293G>T c.(292-294)gGc>gTc p.G98V TRPS1_ENST00000519674.1_Missense_Mutation_p.G85V|TRPS1_ENST00000520276.1_Missense_Mutation_p.G89V|TRPS1_ENST00000220888.5_Missense_Mutation_p.G85V|TRPS1_ENST00000519076.1_Intron NM_014112.2 NP_054831.2 Q9UHF7 TRPS1_HUMAN trichorhinophalangeal syndrome I 85 negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2) 111 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) ATAATTGAAGCCAGCCTTCTC 0.448000 Langer-Giedion syndrome 30 88 2.25844e-05 2.95334e-05 1 1 0 ENOX1 55068 broad.mit.edu 37 13 43896589 43896589 + Missense_Mutation SNP C C T TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr13:43896589C>T ENST00000261488.6 - 11 1769 c.1192G>A c.(1192-1194)Gaa>Aaa p.E398K ENOX1_ENST00000412891.1_Missense_Mutation_p.E398K|ENOX1_ENST00000540032.1_Missense_Mutation_p.E211K NM_001242863.1|NM_017993.3 NP_001229792.1|NP_060463.2 Q8TC92 ENOX1_HUMAN ecto-NOX disulfide-thiol exchanger 1 398 electron transport chain|rhythmic process|transport extracellular space|plasma membrane nucleic acid binding|nucleotide binding|oxidoreductase activity breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1) 34 Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406) GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172) TCCATTTCTTCTTCGCGGCGG 0.478000 9 68 0 0 1 0 0 CDH7 1005 broad.mit.edu 37 18 63547773 63547773 + Missense_Mutation SNP C C G TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr18:63547773C>G ENST00000397968.2 + 12 2427 c.2001C>G c.(1999-2001)gaC>gaG p.D667E CDH7_ENST00000323011.3_Missense_Mutation_p.D667E NM_004361.2 NP_004352.2 Q9ULB5 CADH7_HUMAN cadherin 7, type 2 667 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 80 Esophageal squamous(42;0.129) AAGCGTTTGACATGGCTGCAC 0.478000 8 70 0 0 1 0 0 OR5H14 403273 broad.mit.edu 37 3 97868667 97868667 + Silent SNP C C A TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr3:97868667C>A ENST00000437310.1 + 1 498 c.438C>A c.(436-438)atC>atA p.I146I NM_001005514.1 NP_001005514.1 A6NHG9 O5H14_HUMAN olfactory receptor, family 5, subfamily H, member 14 146 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 31 GGCTATTAATCTTGTCATATG 0.383000 18 224 8.00594e-06 1.08591e-05 1 1 0 TMEM215 401498 broad.mit.edu 37 9 32784844 32784844 + Silent SNP T T C TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr9:32784844T>C ENST00000342743.5 + 2 1028 c.663T>C c.(661-663)taT>taC p.Y221Y NM_212558.2 NP_997723.2 Q68D42 TM215_HUMAN transmembrane protein 215 221 integral to membrane endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|prostate(2) 12 ACTGTTGTTATATCAATCAGA 0.493000 7 93 0 0 1 0 0 ESYT1 23344 broad.mit.edu 37 12 56531108 56531108 + Missense_Mutation SNP C C G TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr12:56531108C>G ENST00000394048.5 + 17 2153 c.1889C>G c.(1888-1890)gCc>gGc p.A630G ESYT1_ENST00000267113.4_Missense_Mutation_p.A640G|ESYT1_ENST00000541590.1_Missense_Mutation_p.A640G NM_001184796.1|NM_015292.2 NP_001171725.1|NP_056107.1 Q9BSJ8 ESYT1_HUMAN extended synaptotagmin-like protein 1 630 integral to membrane breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1) 28 AGTGTGGATGCCCCACCTCGA 0.542000 8 63 0 0 1 0 0 ZNF79 7633 broad.mit.edu 37 9 130207370 130207370 + Missense_Mutation SNP A A C TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr9:130207370A>C ENST00000342483.5 + 5 1797 c.1391A>C c.(1390-1392)cAg>cCg p.Q464P ZNF79_ENST00000543471.1_Missense_Mutation_p.Q440P NM_007135.2 NP_009066.2 Q15937 ZNF79_HUMAN zinc finger protein 79 464 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2) 28 AGTCAGCATCAGAGAATCCAC 0.512000 12 178 0 0 1 0 0 TRPC4 7223 broad.mit.edu 37 13 38266311 38266311 + Missense_Mutation SNP G G T TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr13:38266311G>T ENST00000379705.3 - 4 1916 c.1059C>A c.(1057-1059)agC>agA p.S353R TRPC4_ENST00000379673.2_Missense_Mutation_p.S353R|TRPC4_ENST00000426868.2_Missense_Mutation_p.S353R|TRPC4_ENST00000379681.3_Missense_Mutation_p.S353R|TRPC4_ENST00000447043.1_Missense_Mutation_p.S353R|TRPC4_ENST00000355779.2_Missense_Mutation_p.S353R|TRPC4_ENST00000338947.5_Missense_Mutation_p.S180R|TRPC4_ENST00000379679.1_Missense_Mutation_p.S180R|TRPC4_ENST00000358477.2_Missense_Mutation_p.S353R Q9UBN4 TRPC4_HUMAN transient receptor potential cation channel, subfamily C, member 4 353 axon guidance|calcium ion import basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton beta-catenin binding|cadherin binding|store-operated calcium channel activity NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 83 all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126) GTCCAAGTGGGCTTTTGGGAG 0.463000 7 45 2.0095e-06 2.7849e-06 1 1 0 PEX5L 51555 broad.mit.edu 37 3 179615999 179615999 + Silent SNP G G T TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr3:179615999G>T ENST00000467460.1 - 3 459 c.129C>A c.(127-129)gcC>gcA p.A43A PEX5L_ENST00000472994.1_Intron|PEX5L_ENST00000468741.1_Intron|PEX5L_ENST00000465751.1_Silent_p.A19A|PEX5L_ENST00000464614.1_5'UTR|PEX5L_ENST00000263962.8_Silent_p.A41A|PEX5L_ENST00000485199.1_Intron|PEX5L_ENST00000476138.1_5'UTR NM_001256751.1|NM_016559.2 NP_001243680.1|NP_057643.1 Q8IYB4 PEX5R_HUMAN peroxisomal biogenesis factor 5-like 43 protein import into peroxisome matrix|regulation of cAMP-mediated signaling cytosol|peroxisomal membrane peroxisome matrix targeting signal-1 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183) OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518) TCATCACCATGGCAACAGCCT 0.453000 10 95 5.16669e-11 8.44554e-11 1 1 0 ADH1A 124 broad.mit.edu 37 4 100208112 100208112 + Missense_Mutation SNP G G T TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr4:100208112G>T ENST00000209668.2 - 3 267 c.154C>A c.(154-156)Cac>Aac p.H52N RP11-696N14.1_ENST00000500358.2_RNA|ADH1A_ENST00000511656.1_5'UTR NM_000667.3 NP_000658.1 P07327 ADH1A_HUMAN alcohol dehydrogenase 1A (class I), alpha polypeptide 52 ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process cytosol alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1) 25 OV - Ovarian serous cystadenocarcinoma(123;9.56e-08) Fomepizole(DB01213)|NADH(DB00157) CTAACCACGTGGTCATCTGTG 0.473000 8 167 0.000274275 0.000336251 1 1 0 SIPA1L2 57568 broad.mit.edu 37 1 232581314 232581314 + Missense_Mutation SNP C C A TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr1:232581314C>A ENST00000366630.1 - 10 3672 c.3314G>T c.(3313-3315)cGa>cTa p.R1105L SIPA1L2_ENST00000262861.4_Missense_Mutation_p.R1105L|SIPA1L2_ENST00000308942.4_Missense_Mutation_p.R179L Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 2 1105 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) GGAGGTGCTTCGAGGAATGGC 0.642000 10 66 0.00621372 0.00688912 1 1 0 HLA-A 3105 broad.mit.edu 37 6 29910693 29910693 + Missense_Mutation SNP A A G rs41559716 by1000genomes TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr6:29910693A>G ENST00000396634.1 + 4 574 c.233A>G c.(232-234)cAg>cGg p.Q78R HLA-A_ENST00000376806.5_Missense_Mutation_p.Q78R|HLA-A_ENST00000376809.5_Missense_Mutation_p.Q78R|HLA-A_ENST00000376802.2_Missense_Mutation_p.Q78R P30443 1A01_HUMAN major histocompatibility complex, class I, A 78 Alpha-1. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway integral to plasma membrane|MHC class I protein complex MHC class I receptor activity p.Q78R(2) central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 30 TGGATAGAGCAGGAGGGGCCG 0.657000 Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of Multiple Myeloma(9;0.094) 4 26 0 0 1 0 0 ATP10B 23120 broad.mit.edu 37 5 160044967 160044967 + Silent SNP A A G TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr5:160044967A>G ENST00000327245.5 - 16 3276 c.2430T>C c.(2428-2430)aaT>aaC p.N810N CTC-348L5.1_ENST00000523598.1_RNA NM_025153.2 NP_079429.2 O94823 AT10B_HUMAN ATPase, class V, type 10B 810 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1) 75 Renal(175;0.00196) Medulloblastoma(196;0.0377)|all_neural(177;0.121) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TCTTTTCCATATTAATGTCAG 0.468000 5 70 0 0 1 0 0 MXRA5 25878 broad.mit.edu 37 X 3239242 3239242 + Missense_Mutation SNP G G T TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chrX:3239242G>T ENST00000217939.6 - 5 4638 c.4484C>A c.(4483-4485)tCc>tAc p.S1495Y NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 1495 extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) TGTGGATGGGGACGAGGATGC 0.478000 5 56 0.000602214 0.000717592 1 1 0 RP11-478B9.1 0 broad.mit.edu 37 12 45457840 45457840 + RNA SNP G G T TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr12:45457840G>T ENST00000548424.1 + 0 448 TTAGGCGAAAGGTCAGAAGAG 0.453000 10 115 0.000442599 0.000537442 1 1 0 AKNA 80709 broad.mit.edu 37 9 117113215 117113215 + Missense_Mutation SNP C C T TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr9:117113215C>T ENST00000307564.4 - 15 3306 c.3145G>A c.(3145-3147)Gcc>Acc p.A1049T AKNA_ENST00000374075.5_Missense_Mutation_p.A968T|AKNA_ENST00000374088.3_Missense_Mutation_p.A1049T|AKNA_ENST00000223791.3_Missense_Mutation_p.A509T NM_030767.4 NP_110394.3 Q7Z591 AKNA_HUMAN AT-hook transcription factor 1049 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2) 51 GCGGCAGGGGCGGGGGCTGGG 0.612000 7 66 0 0 1 0 0 ANK1 286 broad.mit.edu 37 8 41584821 41584821 + Nonsense_Mutation SNP C C A TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr8:41584821C>A ENST00000396942.1 - 5 456 c.373G>T c.(373-375)Gaa>Taa p.E125* ANK1_ENST00000396945.1_Nonsense_Mutation_p.E125*|ANK1_ENST00000265709.8_Nonsense_Mutation_p.E158*|ANK1_ENST00000379758.2_Nonsense_Mutation_p.E125*|ANK1_ENST00000352337.4_Nonsense_Mutation_p.E125*|ANK1_ENST00000347528.4_Nonsense_Mutation_p.E125*|ANK1_ENST00000289734.7_Nonsense_Mutation_p.E125* P16157 ANK1_HUMAN ankyrin 1, erythrocytic 125 89 kDa domain. axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 122 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) TTAACCACTTCCAAGTGGTTC 0.443000 5 69 1.23904e-05 1.63707e-05 1 1 0 STON2 85439 broad.mit.edu 37 14 81744537 81744537 + Missense_Mutation SNP C C A TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr14:81744537C>A ENST00000555447.1 - 6 1530 c.1118G>T c.(1117-1119)aGc>aTc p.S373I STON2_ENST00000267540.2_Missense_Mutation_p.S373I NM_001256430.1 NP_001243359.1 Q8WXE9 STON2_HUMAN stonin 2 373 endocytosis|intracellular protein transport|regulation of endocytosis clathrin adaptor complex|nucleolus protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5) 34 BRCA - Breast invasive adenocarcinoma(234;0.0348) CTGGGTTTTGCTTGAATCATC 0.453000 16 90 1.37285e-15 2.36539e-15 1 1 0 HBG2 3048 broad.mit.edu 37 11 5274542 5274542 + Nonsense_Mutation SNP C C A TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr11:5274542C>A ENST00000380259.2 - 8 1649 c.409G>T c.(409-411)Gga>Tga p.G137* HBG2_ENST00000336906.4_Nonsense_Mutation_p.G137*|HBG2_ENST00000380252.1_Nonsense_Mutation_p.G127* hemoglobin, gamma G endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2) 13 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CTGGCCACTCCAGTCACCATC 0.498000 11 57 1.58986e-06 2.21538e-06 1 1 0 APOB 338 broad.mit.edu 37 2 21228400 21228400 + Silent SNP G G A TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr2:21228400G>A ENST00000233242.1 - 26 11467 c.11340C>T c.(11338-11340)gcC>gcT p.A3780A NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 3780 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) GTAGGTTGAGGGCAAATGATG 0.393000 20 196 0 0 1 0 0 RSPO4 343637 broad.mit.edu 37 20 944660 944660 + Silent SNP G G T TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr20:944660G>T ENST00000217260.4 - 4 609 c.513C>A c.(511-513)ggC>ggA p.G171G RSPO4_ENST00000400634.2_Intron NM_001029871.3 NP_001025042.2 Q2I0M5 RSPO4_HUMAN R-spondin 4 171 TSP type-1. Wnt receptor signaling pathway extracellular region heparin binding endometrium(1)|kidney(1)|large_intestine(2)|lung(3) 7 GCCCAGCCCGGCCAGCCTCTC 0.662000 13 50 4.3838e-07 6.35153e-07 1 1 0 SNTB1 6641 broad.mit.edu 37 8 121587351 121587351 + Missense_Mutation SNP G G A TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr8:121587351G>A ENST00000395601.3 - 5 1525 c.1111C>T c.(1111-1113)Cac>Tac p.H371Y SNTB1_ENST00000519177.1_5'UTR|SNTB1_ENST00000517992.1_Missense_Mutation_p.H371Y NM_021021.3 NP_066301.1 Q13884 SNTB1_HUMAN syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1) 371 PH 2. muscle contraction cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma actin binding|calmodulin binding NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6) 24 Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997) STAD - Stomach adenocarcinoma(47;0.00503) GGGTATGTGTGAACTGGGCTG 0.458000 8 122 0 0 1 0 0 ZNF804B 219578 broad.mit.edu 37 7 88965917 88965917 + Silent SNP C C A TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr7:88965917C>A ENST00000333190.4 + 4 4230 c.3621C>A c.(3619-3621)acC>acA p.T1207T NM_181646.2 NP_857597.1 A4D1E1 Z804B_HUMAN zinc finger protein 804B 1207 intracellular zinc ion binding NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9) 144 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) CTTCTATCACCACCATCCACC 0.498000 HNSCC(36;0.09) 14 143 0.000151284 0.000188183 1 1 0 OR5W2 390148 broad.mit.edu 37 11 55681634 55681634 + Missense_Mutation SNP T T C TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr11:55681634T>C ENST00000344514.1 - 1 424 c.425A>G c.(424-426)tAt>tGt p.Y142C NM_001001960.1 NP_001001960.1 Q8NH69 OR5W2_HUMAN olfactory receptor, family 5, subfamily W, member 2 142 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 CAAGAGTAGATAGCACACTCT 0.463000 9 76 0 0 1 0 0 CHFR 55743 broad.mit.edu 37 12 133433133 133433133 + Missense_Mutation SNP G G A TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr12:133433133G>A ENST00000266880.7 - 11 1249 c.1186C>T c.(1186-1188)Cgg>Tgg p.R396W CHFR_ENST00000537522.1_Missense_Mutation_p.R18W|CHFR_ENST00000315585.7_Missense_Mutation_p.R355W|CHFR_ENST00000450056.2_Missense_Mutation_p.R384W|CHFR_ENST00000443047.2_Missense_Mutation_p.R304W|CHFR_ENST00000541837.2_5'UTR|CHFR_ENST00000432561.2_Missense_Mutation_p.R396W Q96EP1 CHFR_HUMAN checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase 396 cell division|mitosis|mitotic cell cycle checkpoint|modification-dependent protein catabolic process|protein polyubiquitination PML body nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_cancers(7;0.00552)|all_epithelial(31;0.226) OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05) GAAAAAGACCGCCTGACTTTG 0.468000 27 269 0 0 1 0 0 DCSTAMP 81501 broad.mit.edu 37 8 105361365 105361365 + Missense_Mutation SNP C C A TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr8:105361365C>A ENST00000297581.2 + 2 634 c.585C>A c.(583-585)agC>agA p.S195R DPYS_ENST00000521601.1_Intron|DCSTAMP_ENST00000517991.1_Missense_Mutation_p.S195R NM_030788.3 NP_110415.1 Q9H295 TM7S4_HUMAN dendrocyte expressed seven transmembrane protein 195 osteoclast differentiation cell surface|integral to membrane|plasma membrane AAGTCCTGAGCGTCTTGTACC 0.547000 28 109 1.68575e-08 2.54359e-08 1 1 0 CCDC22 28952 broad.mit.edu 37 X 49093573 49093573 + Missense_Mutation SNP A A T TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chrX:49093573A>T ENST00000376227.3 + 2 241 c.71A>T c.(70-72)cAg>cTg p.Q24L CCDC22_ENST00000496651.1_3'UTR NM_014008.3 NP_054727.1 O60826 CCD22_HUMAN coiled-coil domain containing 22 24 NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1) 18 CCAGATGTGCAGACCTTGCGC 0.597000 6 15 0 0 1 0 0 ZNF572 137209 broad.mit.edu 37 8 125989176 125989176 + Silent SNP G G T TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr8:125989176G>T ENST00000319286.5 + 3 820 c.666G>T c.(664-666)ggG>ggT p.G222G NM_152412.2 NP_689625.2 Q7Z3I7 ZN572_HUMAN zinc finger protein 572 222 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3) 31 Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205) CCGAGTGTGGGAAGAGATTCA 0.453000 HNSCC(60;0.17) 20 88 1.00905e-13 1.70402e-13 1 1 0 LOX 4015 broad.mit.edu 37 5 121405749 121405749 + Splice_Site SNP G G T TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr5:121405749G>T ENST00000231004.4 - 6 1545 c.1247_splice c.e6+1 p.P416_splice SRFBP1_ENST00000504881.1_Intron|LOX_ENST00000513319.1_5'UTR NM_001178102.1|NM_002317.5 NP_001171573.1|NP_002308.2 P28300 LYOX_HUMAN lysyl oxidase 416 Lysyl-oxidase like. protein modification process extracellular space copper ion binding|protein-lysine 6-oxidase activity endometrium(1)|lung(6)|prostate(1) 8 all_cancers(142;0.0124)|Prostate(80;0.0322)|Ovarian(225;0.0814)|Breast(839;0.143) KIRC - Kidney renal clear cell carcinoma(527;0.206) Epithelial(69;2.14e-11)|OV - Ovarian serous cystadenocarcinoma(64;7.87e-10)|all cancers(49;2.49e-09)|COAD - Colon adenocarcinoma(49;0.02) AACACTTACGGTGAAATTGTG 0.398000 4 52 0.150653 0.153667 1 1 0 ATP6V1H 51606 broad.mit.edu 37 8 54714367 54714367 + Silent SNP C C T TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr8:54714367C>T ENST00000355221.3 - 7 1174 c.615G>A c.(613-615)ggG>ggA p.G205G ATP6V1H_ENST00000359530.2_Silent_p.G223G|ATP6V1H_ENST00000520188.1_Silent_p.G183G|ATP6V1H_ENST00000396774.2_Silent_p.G223G NM_213619.2 NP_998784.1 Q9UI12 VATH_HUMAN ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H 223 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|endocytosis|insulin receptor signaling pathway|interspecies interaction between organisms|regulation of defense response to virus by virus|transferrin transport|vacuolar acidification|viral reproduction cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase, V1 domain enzyme regulator activity|protein binding|proton-transporting ATPase activity, rotational mechanism endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1) 18 all_epithelial(80;0.0487)|Lung NSC(129;0.109)|all_lung(136;0.181) OV - Ovarian serous cystadenocarcinoma(7;2.79e-06)|Epithelial(17;0.000629)|all cancers(17;0.00359) ACCAATTTACCCCATCTGCTT 0.423000 4 43 0 0 1 0 0 KCNV1 27012 broad.mit.edu 37 8 110980597 110980597 + Missense_Mutation SNP A A T TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr8:110980597A>T ENST00000524391.1 - 4 2255 c.1223T>A c.(1222-1224)gTg>gAg p.V408E KCNV1_ENST00000297404.1_Missense_Mutation_p.V408E Q6PIU1 KCNV1_HUMAN potassium channel, subfamily V, member 1 408 voltage-gated potassium channel complex ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_neural(195;0.219) OV - Ovarian serous cystadenocarcinoma(57;5.35e-13) CATGAAGGCCACGATTTTGCC 0.473000 31 99 0 0 1 0 0 EPHB6 2051 broad.mit.edu 37 7 142561841 142561841 + Missense_Mutation SNP G G C TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr7:142561841G>C ENST00000392957.2 + 7 1070 c.283G>C c.(283-285)Gtg>Ctg p.V95L EPHB6_ENST00000442129.1_Missense_Mutation_p.V95L|EPHB6_ENST00000411471.2_Intron NM_004445.3 NP_004436.2 O15197 EPHB6_HUMAN EPH receptor B6 95 extracellular region|integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 87 Melanoma(164;0.059) GACACACTTTGTGGAGCGGCG 0.657000 25 186 0 0 1 0 0 ANK2 287 broad.mit.edu 37 4 114179473 114179473 + Missense_Mutation SNP G G T TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr4:114179473G>T ENST00000357077.4 + 13 1345 c.1292G>T c.(1291-1293)gGc>gTc p.G431V ANK2_ENST00000264366.6_Missense_Mutation_p.G431V|ANK2_ENST00000394537.3_Missense_Mutation_p.G431V|ANK2_ENST00000506722.1_Missense_Mutation_p.G410V NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 431 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) TCGCAGTCTGGCCTCACACCA 0.488000 5 82 0.014758 0.016014 1 1 0 GBA2 57704 broad.mit.edu 37 9 35737761 35737761 + Missense_Mutation SNP G G A TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr9:35737761G>A ENST00000378094.4 - 16 3002 c.2489C>T c.(2488-2490)gCt>gTt p.A830V GBA2_ENST00000378088.1_Missense_Mutation_p.A131V|GBA2_ENST00000545786.1_Missense_Mutation_p.A836V|GBA2_ENST00000378103.3_Missense_Mutation_p.A830V Q9HCG7 GBA2_HUMAN glucosidase, beta (bile acid) 2 830 bile acid metabolic process|glucosylceramide catabolic process|O-glycoside catabolic process integral to membrane|microsome|plasma membrane|smooth endoplasmic reticulum beta-glucosidase activity|glucosylceramidase activity NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3) 21 all_epithelial(49;0.167) Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) GATCATGGTAGCTGCCAGCCC 0.522000 9 92 0 0 1 0 0 CHRNA9 55584 broad.mit.edu 37 4 40339331 40339331 + Silent SNP C C T TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr4:40339331C>T ENST00000310169.2 + 3 454 c.315C>T c.(313-315)atC>atT p.I105I CHRNA9_ENST00000502377.1_3'UTR NM_017581.3 NP_060051.2 Q9UGM1 ACHA9_HUMAN cholinergic receptor, nicotinic, alpha 9 (neuronal) 105 elevation of cytosolic calcium ion concentration|synaptic transmission cell junction|postsynaptic membrane calcium channel activity|receptor activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1) 33 Nicotine(DB00184) TAGACTCCATCAGGATCCCCA 0.483000 4 46 0 0 1 0 0 GTF3C1 2975 broad.mit.edu 37 16 27504602 27504602 + Missense_Mutation SNP C C G TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr16:27504602C>G ENST00000356183.4 - 17 2809 c.2794G>C c.(2794-2796)Gaa>Caa p.E932Q GTF3C1_ENST00000561623.1_Missense_Mutation_p.E932Q NM_001520.3 NP_001511.2 Q12789 TF3C1_HUMAN general transcription factor IIIC, polypeptide 1, alpha 220kDa 932 transcription factor TFIIIC complex DNA binding|protein binding breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 80 TTCAGAAATTCCTCCAGGTTG 0.552000 6 66 0 0 1 0 0 KIAA0586 9786 broad.mit.edu 37 14 59014653 59014653 + Missense_Mutation SNP G G T TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr14:59014653G>T ENST00000354386.6 + 34 5138 c.4894G>T c.(4894-4896)Ggg>Tgg p.G1632W KIAA0586_ENST00000423743.3_3'UTR|KIAA0586_ENST00000261244.5_3'UTR|KIAA0586_ENST00000556134.1_3'UTR NM_001244189.1 NP_001231118.1 E9PGW8 E9PGW8_HUMAN KIAA0586 0 endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 CCTTCTGAACGGGAAGAGACA 0.483000 7 86 0.0381472 0.039867 1 1 0 P2RY8 286530 broad.mit.edu 37 X 1585173 1585173 + Silent SNP C C A TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chrX:1585173C>A ENST00000381297.4 - 2 489 c.279G>T c.(277-279)gtG>gtT p.V93V NM_178129.4 NP_835230.1 Q86VZ1 P2RY8_HUMAN purinergic receptor P2Y, G-protein coupled, 8 93 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1) 23 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) TGCAAAGCAGCACCCCGAATA 0.547000 T CRLF2 """B-ALL, Downs associated ALL""" 5 33 3.59834e-05 4.58788e-05 1 1 0 TBC1D23 55773 broad.mit.edu 37 3 100009532 100009532 + Missense_Mutation SNP A A G TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr3:100009532A>G ENST00000394144.4 + 5 594 c.587A>G c.(586-588)tAt>tGt p.Y196C TBC1D23_ENST00000486274.1_3'UTR|TBC1D23_ENST00000344949.5_Missense_Mutation_p.Y196C|TBC1D23_ENST00000475134.1_Missense_Mutation_p.Y59C NM_001199198.2 NP_001186127.1 Q9NUY8 TBC23_HUMAN TBC1 domain family, member 23 196 Rab-GAP TBC. intracellular Rab GTPase activator activity breast(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(10)|ovary(1)|prostate(2)|skin(2) 25 CCAGACTCCTATGCACTCAAC 0.353000 12 113 0 0 1 0 0 NLRP1 22861 broad.mit.edu 37 17 5462709 5462709 + Missense_Mutation SNP G G C rs150958602 TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr17:5462709G>C ENST00000345221.3 - 4 1861 c.1307C>G c.(1306-1308)gCg>gGg p.A436G NLRP1_ENST00000354411.3_Missense_Mutation_p.A436G|NLRP1_ENST00000572272.1_Missense_Mutation_p.A436G|NLRP1_ENST00000269280.4_Missense_Mutation_p.A436G|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000262467.5_Missense_Mutation_p.A436G|NLRP1_ENST00000577119.1_Missense_Mutation_p.A436G NM_014922.4|NM_033004.3|NM_033007.3 NP_055737.1|NP_127497.1|NP_127500.1 Q9C000 NALP1_HUMAN NLR family, pyrin domain containing 1 436 NACHT. defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide cytoplasm|NALP1 inflammasome complex|nucleus ATP binding|caspase activator activity|enzyme binding|protein domain specific binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 Colorectal(1115;3.48e-05) CAGTGCATCCGCCGGCTGTGG 0.582000 5 35 0 0 1 0 0 KRR1 11103 broad.mit.edu 37 12 75900384 75900384 + Silent SNP T T C TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr12:75900384T>C ENST00000229214.4 - 4 422 c.399A>G c.(397-399)gtA>gtG p.V133V KRR1_ENST00000438169.2_Silent_p.V133V NM_007043.6 NP_008974.5 Q13601 KRR1_HUMAN KRR1, small subunit (SSU) processome component, homolog (yeast) 133 rRNA processing nucleolus|ribonucleoprotein complex RNA binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(1) 11 GAAGAATTCGTACTGCCTTTT 0.323000 5 44 0 0 1 0 0 MYH6 4624 broad.mit.edu 37 14 23866220 23866220 + Missense_Mutation SNP C C T TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr14:23866220C>T ENST00000405093.3 - 18 2190 c.2120G>A c.(2119-2121)tGc>tAc p.C707Y MYH6_ENST00000356287.3_Missense_Mutation_p.C707Y NM_002471.3 NP_002462.2 P13533 MYH6_HUMAN myosin, heavy chain 6, cardiac muscle, alpha 707 Myosin head-like. adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 119 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) GCCCTTCCTGCAGATGCGGAT 0.642000 6 57 0 0 1 0 0 UEVLD 55293 broad.mit.edu 37 11 18587907 18587907 + Silent SNP T T A TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr11:18587907T>A ENST00000396197.3 - 5 508 c.480A>T c.(478-480)gcA>gcT p.A160A UEVLD_ENST00000320750.6_Silent_p.A138A|UEVLD_ENST00000379387.4_Silent_p.A138A|UEVLD_ENST00000540666.1_5'UTR|UEVLD_ENST00000541984.1_Intron|UEVLD_ENST00000535484.1_Silent_p.A122A|UEVLD_ENST00000543987.1_Silent_p.A160A|UEVLD_ENST00000300038.7_Silent_p.A160A NM_001040697.2|NM_001261384.1 NP_001035787.1|NP_001248313.1 Q8IX04 UEVLD_HUMAN UEV and lactate/malate dehyrogenase domains 160 cellular carbohydrate metabolic process|protein modification process|protein transport binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 CAGTGATTTTTGCAATATAGG 0.368000 10 65 0 0 1 0 0 PGM5P2 595135 broad.mit.edu 37 9 69127026 69127026 + RNA SNP T T A TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr9:69127026T>A ENST00000591037.1 - 0 532 NR_002836.2 GGGCAGTGGCTGGCTGTTAGA 0.468000 4 28 0 0 1 0 0 CDC20B 166979 broad.mit.edu 37 5 54416314 54416314 + Missense_Mutation SNP C C A TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr5:54416314C>A ENST00000296733.1 - 10 1454 c.1280G>T c.(1279-1281)cGc>cTc p.R427L CDC20B_ENST00000334206.5_3'UTR|CDC20B_ENST00000381375.2_Missense_Mutation_p.R427L|CDC20B_ENST00000322374.6_Intron NM_001170402.1|NM_152623.2 NP_001163873.1|NP_689836.2 Q86Y33 CD20B_HUMAN cell division cycle 20B 427 kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 19 Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194) LUSC - Lung squamous cell carcinoma(15;0.225) GATGTGTAAGCGTCCATCCTT 0.468000 10 121 9.70103e-10 1.5365e-09 1 1 0 LIPI 149998 broad.mit.edu 37 21 15537668 15537668 + Missense_Mutation SNP C C A TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr21:15537668C>A ENST00000344577.2 - 6 865 c.840G>T c.(838-840)ttG>ttT p.L280F LIPI_ENST00000536861.1_Missense_Mutation_p.L259F NM_198996.2 NP_945347.1 Q6XZB0 LIPI_HUMAN lipase, member I 259 lipid catabolic process extracellular region|extracellular space|membrane|plasma membrane heparin binding|phospholipase activity endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1) 54 Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166) ATGCCATGAACAAGTGAACTG 0.333000 9 59 7.48243e-07 1.06593e-06 1 1 0 LSAMP 4045 broad.mit.edu 37 3 115529217 115529217 + Missense_Mutation SNP C C T TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr3:115529217C>T ENST00000490035.1 - 7 1463 c.964G>A c.(964-966)Gta>Ata p.V322I LSAMP_ENST00000539563.1_Missense_Mutation_p.V342I NM_002338.3 NP_002329.2 Q13449 LSAMP_HUMAN limbic system-associated membrane protein 322 cell adhesion|nervous system development anchored to membrane|plasma membrane NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 31 all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215) GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152) CACAGTGGTACGGCCAGACTG 0.423000 3 24 0 0 1 0 0 TUBB6 84617 broad.mit.edu 37 18 12325224 12325224 + Missense_Mutation SNP G G T TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr18:12325224G>T ENST00000317702.5 + 4 670 c.436G>T c.(436-438)Ggc>Tgc p.G146C TUBB6_ENST00000586653.1_3'UTR|TUBB6_ENST00000591909.1_Intron|TUBB6_ENST00000591208.1_Missense_Mutation_p.Q118H|TUBB6_ENST00000590967.1_Intron Q9BUF5 TBB6_HUMAN tubulin, beta 6 class V 146 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1) 14 READ - Rectum adenocarcinoma(1;0.0649) CACGGGCTCAGGCATGGGCAC 0.657000 6 65 0.0293803 0.0312166 1 1 0 IRF9 10379 broad.mit.edu 37 14 24620756 24620756 + Missense_Mutation SNP G G T TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr14:24620756G>T ENST00000558468.1 + 2 225 c.225G>T c.(223-225)caG>caT p.Q75H RNF31_ENST00000324103.6_Missense_Mutation_p.Q600H|RNF31_ENST00000382687.3_Missense_Mutation_p.Q449H|RNF31_ENST00000559275.1_Missense_Mutation_p.Q449H CATTGTTCCAGCACGGAGGTG 0.627000 4 46 0.150653 0.153667 1 1 0 GPR142 350383 broad.mit.edu 37 17 72368685 72368685 + Missense_Mutation SNP G G A TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr17:72368685G>A ENST00000335666.4 + 4 1383 c.1335G>A c.(1333-1335)atG>atA p.M445I NM_181790.1 NP_861455.1 Q7Z601 GP142_HUMAN G protein-coupled receptor 142 445 cell junction|cytoplasm|integral to membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4) 35 CAGAGGGCATGGCGGCGAAGC 0.627000 5 43 0 0 1 0 0 HOXD10 3236 broad.mit.edu 37 2 176981904 176981904 + Missense_Mutation SNP A A T TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr2:176981904A>T ENST00000249501.4 + 1 598 c.343A>T c.(343-345)Atg>Ttg p.M115L HOXD10_ENST00000490088.2_Intron NM_002148.3 NP_002139.2 P28358 HXD10_HUMAN homeobox D10 115 nucleus sequence-specific DNA binding endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1) 17 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18) Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556) CAATTGCTGCATGTATTCTGA 0.502000 15 157 0 0 1 0 0 PPM1A 5494 broad.mit.edu 37 14 60749727 60749727 + Missense_Mutation SNP A A T TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr14:60749727A>T ENST00000395076.4 + 2 736 c.306A>T c.(304-306)agA>agT p.R102S PPM1A_ENST00000325658.3_Missense_Mutation_p.R102S|PPM1A_ENST00000325642.3_Missense_Mutation_p.R175S|PPM1A_ENST00000529574.1_Missense_Mutation_p.R102S NM_021003.4 NP_066283.1 P35813 PPM1A_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1A 102 cell cycle arrest|insulin receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein dephosphorylation|Wnt receptor signaling pathway cytosol|nucleus|protein serine/threonine phosphatase complex magnesium ion binding|manganese ion binding|protein serine/threonine phosphatase activity|signal transducer activity cervix(1)|endometrium(1)|large_intestine(8)|lung(2)|skin(1)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(108;0.046) ATGGAATCAGAACAGGTTTTC 0.403000 13 136 0 0 1 0 0 CPED1 79974 broad.mit.edu 37 7 120906374 120906374 + Missense_Mutation SNP G G T TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr7:120906374G>T ENST00000310396.5 + 19 2871 c.2404G>T c.(2404-2406)Ggc>Tgc p.G802C NM_024913.4 NP_079189.4 cadherin-like and PC-esterase domain containing 1 GAAAGTACATGGCACTAAATT 0.398000 19 181 1.00905e-13 1.70402e-13 1 1 0 EPAS1 2034 broad.mit.edu 37 2 46603775 46603775 + Missense_Mutation SNP G G T TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr2:46603775G>T ENST00000263734.3 + 9 1642 c.1132G>T c.(1132-1134)Ggc>Tgc p.G378C NM_001430.4 NP_001421.2 Q99814 EPAS1_HUMAN endothelial PAS domain protein 1 378 angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia transcription factor complex histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18) LUSC - Lung squamous cell carcinoma(58;0.151) TGATAGCAGTGGCAAGGGGGC 0.542000 19 148 5.3912e-06 7.35164e-06 1 1 0 KCNH6 81033 broad.mit.edu 37 17 61607856 61607856 + Missense_Mutation SNP C C T TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr17:61607856C>T ENST00000583023.1 + 4 639 c.628C>T c.(628-630)Cat>Tat p.H210Y KCNH6_ENST00000580652.1_Missense_Mutation_p.H210Y|KCNH6_ENST00000581784.1_Missense_Mutation_p.H210Y|KCNH6_ENST00000314672.5_Missense_Mutation_p.H210Y|KCNH6_ENST00000456941.2_Missense_Mutation_p.H210Y NM_030779.2 NP_110406.1 Q9H252 KCNH6_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 6 210 regulation of transcription, DNA-dependent|signal transduction breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 Ibutilide(DB00308) CATCGCGCCCCATAAGGTGGT 0.607000 6 78 0 0 1 0 0 PCDH18 54510 broad.mit.edu 37 4 138452270 138452270 + Missense_Mutation SNP G G T TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr4:138452270G>T ENST00000344876.4 - 1 1359 c.973C>A c.(973-975)Cag>Aag p.Q325K PCDH18_ENST00000507846.1_Missense_Mutation_p.Q105K|PCDH18_ENST00000412923.2_Missense_Mutation_p.Q325K|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000511115.1_Intron NM_019035.3 NP_061908.1 Q9HCL0 PCD18_HUMAN protocadherin 18 325 Cadherin 3. 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) TCTTGAGCCTGAACATCAATC 0.333000 5 61 0.014758 0.016014 1 1 0 CD81-AS1 101927682 broad.mit.edu 37 11 2356806 2356806 + RNA SNP A A C TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr11:2356806A>C ENST00000413483.1 - 0 407 RPL26P30_ENST00000602923.1_RNA AGTGTCCTCGAACTACCTGGA 0.537000 19 152 0 0 1 0 0 PACRGL 133015 broad.mit.edu 37 4 20714530 20714530 + Silent SNP G G T TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr4:20714530G>T ENST00000360916.5 + 6 877 c.486G>T c.(484-486)gtG>gtT p.V162V PACRGL_ENST00000444671.2_Intron|PACRGL_ENST00000507634.1_Silent_p.V162V|PACRGL_ENST00000503585.1_Silent_p.V162V|PACRGL_ENST00000513459.1_Silent_p.V109V|PACRGL_ENST00000502938.1_Intron|PACRGL_ENST00000502374.1_Silent_p.V109V|PACRGL_ENST00000538990.1_Intron|PACRGL_ENST00000295290.8_Silent_p.V162V NM_145048.3 NP_659485.1 Q8N7B6 PACRL_HUMAN PARK2 co-regulated-like 162 binding endometrium(2)|lung(7)|prostate(1) 10 TGATTCCTGTGCTAAAGGCAG 0.333000 12 151 5.16669e-11 8.44554e-11 1 1 0 SRPX 8406 broad.mit.edu 37 X 38024095 38024095 + Missense_Mutation SNP G G T TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chrX:38024095G>T ENST00000378533.3 - 5 686 c.580C>A c.(580-582)Ccc>Acc p.P194T SRPX_ENST00000432886.2_Missense_Mutation_p.P135T|SRPX_ENST00000544439.1_Missense_Mutation_p.P174T|SRPX_ENST00000538295.1_Missense_Mutation_p.P194T|SRPX_ENST00000343800.6_Missense_Mutation_p.P181T|TM4SF2_ENST00000465127.1_Intron NM_006307.4 NP_006298.1 P78539 SRPX_HUMAN sushi-repeat containing protein, X-linked 194 HYR. cell adhesion cell surface|membrane autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2) 25 AGTTTGTTGGGTTCTGCAATG 0.423000 5 24 0.000602214 0.000717592 1 1 0 FER1L6 654463 broad.mit.edu 37 8 125131932 125131932 + Silent SNP C C A TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr8:125131932C>A ENST00000522917.1 + 41 5681 c.5475C>A c.(5473-5475)atC>atA p.I1825I FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Silent_p.I1825I NM_001039112.2 NP_001034201.2 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 (C. elegans) 1825 integral to membrane NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1) 118 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) AAAAGTAcatcatcattgctt 0.483000 32 163 5.77227e-19 1.05138e-18 1 1 0 SPTA1 6708 broad.mit.edu 37 1 158612647 158612647 + Missense_Mutation SNP G G T TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr1:158612647G>T ENST00000368148.3 - 32 4742 c.4562C>A c.(4561-4563)cCc>cAc p.P1521H SPTA1_ENST00000368147.3_Missense_Mutation_p.P1521H NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 1521 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) ACAGGCTGTGGGCAGCATCTC 0.448000 20 135 4.96729e-08 7.32173e-08 1 1 0 ADAMTS8 11095 broad.mit.edu 37 11 130284551 130284551 + Missense_Mutation SNP C C T TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr11:130284551C>T ENST00000257359.6 - 5 2147 c.1441G>A c.(1441-1443)Ggg>Agg p.G481R NM_007037.4 NP_008968.4 Q9UP79 ATS8_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 8 481 Disintegrin. negative regulation of cell proliferation|proteolysis proteinaceous extracellular matrix heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1) 10 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213) GGCTCAGCCCCATCAGTGTGG 0.657000 10 102 0 0 1 0 0 CLEC1B 51266 broad.mit.edu 37 12 10150970 10150970 + Missense_Mutation SNP G G T TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr12:10150970G>T ENST00000298527.6 - 2 253 c.74C>A c.(73-75)gCa>gAa p.A25E CLEC1B_ENST00000428126.2_Intron|CLEC1B_ENST00000348658.4_Intron NM_016509.3 NP_057593.3 Q9P126 CLC1B_HUMAN C-type lectin domain family 1, member B 25 cell surface receptor linked signaling pathway|defense response integral to plasma membrane protein binding|sugar binding|transmembrane receptor activity NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(12)|stomach(1)|urinary_tract(1) 19 GGAGGAGGATGCAGAGCCAAC 0.557000 16 113 1.3612e-06 1.91772e-06 1 1 0 ZFPM2 23414 broad.mit.edu 37 8 106815450 106815450 + Missense_Mutation SNP G G T TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr8:106815450G>T ENST00000407775.2 + 8 3390 c.3140G>T c.(3139-3141)gGa>gTa p.G1047V ZFPM2_ENST00000378472.4_Missense_Mutation_p.G778V|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.G915V|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.G915V|RP11-152P17.2_ENST00000509144.2_RNA NM_012082.3 NP_036214.2 Q8WW38 FOG2_HUMAN zinc finger protein, FOG family member 2 1047 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 99 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) GTGAATGGTGGACTGAAACAA 0.488000 11 45 2.27111e-07 3.30933e-07 1 1 0 OR8J3 81168 broad.mit.edu 37 11 55905081 55905081 + Silent SNP G G T TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr11:55905081G>T ENST00000301529.1 - 1 113 c.114C>A c.(112-114)acC>acA p.T38T NM_001004064.1 NP_001004064.1 Q8NGG0 OR8J3_HUMAN olfactory receptor, family 8, subfamily J, member 3 38 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 59 Esophageal squamous(21;0.00693) TCCCTGCCATGGTCAGCACAT 0.488000 21 148 1.2644e-06 1.79124e-06 1 1 0 TFRC 7037 broad.mit.edu 37 3 195798920 195798920 + Missense_Mutation SNP T T C TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr3:195798920T>C ENST00000360110.4 - 5 707 c.538A>G c.(538-540)Aaa>Gaa p.K180E TFRC_ENST00000540528.1_3'UTR|TFRC_ENST00000535031.1_5'UTR|TFRC_ENST00000392396.3_Missense_Mutation_p.K180E|TFRC_ENST00000420415.1_Missense_Mutation_p.K99E NM_001128148.1 NP_001121620.1 P02786 TFR1_HUMAN transferrin receptor 180 cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport coated pit|endosome|integral to plasma membrane|melanosome peptidase activity|transferrin receptor activity NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00233) CGCCAGACTTTGCTGAGTTTA 0.348000 T BCL6 NHL 15 60 0 0 1 0 0 TMEM246 84302 broad.mit.edu 37 9 104238995 104238995 + Missense_Mutation SNP C C T TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr9:104238995C>T ENST00000374851.1 - 4 1527 c.380G>A c.(379-381)cGg>cAg p.R127Q RP11-490D19.6_ENST00000425734.1_RNA|TMEM246_ENST00000374848.3_Missense_Mutation_p.R127Q|RP11-490D19.6_ENST00000431507.1_RNA|RP11-490D19.6_ENST00000424154.1_RNA|TMEM246_ENST00000374847.1_Missense_Mutation_p.R127Q|RP11-490D19.6_ENST00000450109.1_RNA Q9BRR3 CI125_HUMAN transmembrane protein 246 127 integral to membrane CTGAAGAAGCCGGTGGAACTG 0.602000 10 84 0 0 1 0 0 ITM2A 9452 broad.mit.edu 37 X 78618173 78618173 + Missense_Mutation SNP G G T TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chrX:78618173G>T ENST00000434584.2 - 3 661 c.325C>A c.(325-327)Ctg>Atg p.L109M ITM2A_ENST00000373298.2_Missense_Mutation_p.L153M|ITM2A_ENST00000469541.1_5'UTR NM_001171581.1 NP_001165052.1 O43736 ITM2A_HUMAN integral membrane protein 2A 153 integral to membrane protein binding breast(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 18 AACAAGTCCAGGTAAGCAGTC 0.438000 4 17 0.184627 0.186825 1 1 0 KCNN2 3781 broad.mit.edu 37 5 113831649 113831649 + Nonsense_Mutation SNP G G T TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr5:113831649G>T ENST00000512097.3 + 9 2528 c.1510G>T c.(1510-1512)Gag>Tag p.E504* KCNN2_ENST00000264773.3_Nonsense_Mutation_p.E504*|RP11-492A10.1_ENST00000514115.1_RNA|KCNN2_ENST00000503706.1_Nonsense_Mutation_p.E156* Q9H2S1 KCNN2_HUMAN potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2 504 integral to membrane calmodulin binding|small conductance calcium-activated potassium channel activity breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206) OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195) TGAAGACTTCGAGAAGAGGAT 0.443000 10 153 1.76689e-08 2.65034e-08 1 1 0 ATP2B4 493 broad.mit.edu 37 1 203669983 203669983 + Missense_Mutation SNP C C T TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr1:203669983C>T ENST00000357681.5 + 6 1956 c.833C>T c.(832-834)tCt>tTt p.S278F ATP2B4_ENST00000341360.2_Missense_Mutation_p.S278F|ATP2B4_ENST00000367218.3_Missense_Mutation_p.S278F|ATP2B4_ENST00000367219.3_Missense_Mutation_p.S278F|ATP2B4_ENST00000391954.2_Missense_Mutation_p.S278F NM_001684.4 NP_001675.3 P23634 AT2B4_HUMAN ATPase, Ca++ transporting, plasma membrane 4 278 ATP biosynthetic process|platelet activation integral to plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3) 56 all_cancers(21;0.071)|all_epithelial(62;0.228) BRCA - Breast invasive adenocarcinoma(75;0.109) GGTGTCAACTCTCAGACTGGA 0.483000 9 48 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577556 7577556 + Missense_Mutation SNP C C A rs121912655 TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr17:7577556C>A ENST00000420246.2 - 7 857 c.725G>T c.(724-726)tGc>tTc p.C242F TP53_ENST00000413465.2_Missense_Mutation_p.C242F|TP53_ENST00000359597.4_Missense_Mutation_p.C242F|TP53_ENST00000269305.4_Missense_Mutation_p.C242F|TP53_ENST00000445888.2_Missense_Mutation_p.C242F|TP53_ENST00000455263.2_Missense_Mutation_p.C242F NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 242 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain. C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.C242F(82)|p.C242Y(44)|p.C242S(16)|p.0?(8)|p.C149F(6)|p.?(5)|p.N239_C242delNSSC(3)|p.C149Y(2)|p.C238fs*21(1)|p.C242fs*20(1)|p.Y236_M243delYMCNSSCM(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.C242_M246>L(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GCCGCCCATGCAGGAACTGTT 0.577000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 5 66 0.000602214 0.000717592 1 1 0 ZNF521 25925 broad.mit.edu 37 18 22805951 22805951 + Missense_Mutation SNP G G T TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr18:22805951G>T ENST00000361524.3 - 4 2079 c.1931C>A c.(1930-1932)aCa>aAa p.T644K ZNF521_ENST00000538137.2_Missense_Mutation_p.T644K|ZNF521_ENST00000584787.1_Missense_Mutation_p.T424K NM_015461.2 NP_056276.1 Q96K83 ZN521_HUMAN zinc finger protein 521 644 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 149 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) GTCTAGGGATGTGTACTTAGC 0.463000 T PAX5 ALL 13 192 4.36969e-10 7.00799e-10 1 1 0 YEATS2 55689 broad.mit.edu 37 3 183472056 183472056 + Silent SNP A A T TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr3:183472056A>T ENST00000305135.5 + 11 1488 c.1293A>T c.(1291-1293)gcA>gcT p.A431A NM_018023.4 NP_060493.3 Q9ULM3 YETS2_HUMAN YEATS domain containing 2 431 histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter Ada2/Gcn5/Ada3 transcription activator complex TBP-class protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3) 49 all_cancers(143;6.55e-10)|Ovarian(172;0.0303) all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) AGCCAATAGCATCAAGCTGCA 0.443000 28 139 0 0 1 0 0 CDC25C 995 broad.mit.edu 37 5 137621514 137621514 + Missense_Mutation SNP T T G TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr5:137621514T>G ENST00000323760.6 - 14 1567 c.1289A>C c.(1288-1290)cAg>cCg p.Q430P CDC25C_ENST00000357274.3_Missense_Mutation_p.Q387P|CDC25C_ENST00000356505.3_Missense_Mutation_p.Q400P|CDC25C_ENST00000348983.3_Missense_Mutation_p.Q357P|CDC25C_ENST00000415130.2_Missense_Mutation_p.Q357P|CDC25C_ENST00000513970.1_Missense_Mutation_p.Q430P|CDC25C_ENST00000514555.1_Missense_Mutation_p.Q400P NM_001790.3 NP_001781.2 P30307 MPIP3_HUMAN cell division cycle 25C 430 cell cycle checkpoint|cell division|cell proliferation|DNA replication|G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis|traversing start control point of mitotic cell cycle cytosol|nucleoplasm protein tyrosine phosphatase activity|WW domain binding endometrium(2)|kidney(3)|large_intestine(5)|lung(5)|skin(1) 16 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) GCAGTAGCTCTGTGGTTCACA 0.522000 5 74 0 0 1 0 0 ZNRD1-AS1 80862 broad.mit.edu 37 6 29974804 29974804 + RNA SNP A A G TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr6:29974804A>G ENST00000376797.3 - 0 1346 ZNRD1-AS1_ENST00000448093.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA TGACCGAGTGAACCTGCGGAC 0.672000 3 17 0 0 1 0 0 LAMB3 3914 broad.mit.edu 37 1 209790914 209790914 + Silent SNP C C A TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr1:209790914C>A ENST00000391911.1 - 20 3458 c.3069G>T c.(3067-3069)cgG>cgT p.R1023R LAMB3_ENST00000356082.4_Silent_p.R1023R|LAMB3_ENST00000367030.3_Silent_p.R1023R NM_001017402.1 NP_001017402.1 Q13751 LAMB3_HUMAN laminin, beta 3 1023 Domain I. cell adhesion|epidermis development|hemidesmosome assembly structural molecule activity NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 OV - Ovarian serous cystadenocarcinoma(81;0.0519) TTTCTGCTGGCCGCAGTACCT 0.577000 7 45 8.12818e-05 0.000101602 1 1 0 TRPC6 7225 broad.mit.edu 37 11 101375089 101375089 + Missense_Mutation SNP T T A TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr11:101375089T>A ENST00000344327.3 - 2 1035 c.611A>T c.(610-612)gAt>gTt p.D204V TRPC6_ENST00000532133.1_Missense_Mutation_p.D204V|TRPC6_ENST00000348423.4_Missense_Mutation_p.D204V|TRPC6_ENST00000360497.4_Missense_Mutation_p.D204V NM_004621.5 NP_004612.2 Q9Y210 TRPC6_HUMAN transient receptor potential cation channel, subfamily C, member 6 204 axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity integral to membrane|plasma membrane protein binding autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162) BRCA - Breast invasive adenocarcinoma(274;0.0442) ATAAAAATCATCTTGCTGGAG 0.468000 10 92 0 0 1 0 0 XYLT1 64131 broad.mit.edu 37 16 17228505 17228505 + Missense_Mutation SNP C C A TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr16:17228505C>A ENST00000261381.6 - 9 1936 c.1852G>T c.(1852-1854)Ggg>Tgg p.G618W CTD-2576D5.4_ENST00000567344.1_RNA NM_022166.3 NP_071449.1 Q86Y38 XYLT1_HUMAN xylosyltransferase I 618 glycosaminoglycan biosynthetic process endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane acetylglucosaminyltransferase activity|protein xylosyltransferase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 GGGTAGTTCCCGTACAGGTAA 0.572000 14 150 4.36969e-10 7.00799e-10 1 1 0 STK38L 23012 broad.mit.edu 37 12 27462089 27462089 + Missense_Mutation SNP A A G TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr12:27462089A>G ENST00000389032.3 + 5 521 c.352A>G c.(352-354)Atg>Gtg p.M118V STK38L_ENST00000539577.1_Missense_Mutation_p.M25V NM_015000.3 NP_055815.1 Q9Y2H1 ST38L_HUMAN serine/threonine kinase 38 like 118 Protein kinase. intracellular protein kinase cascade|regulation of cellular component organization actin cytoskeleton|cytoplasm actin binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1) 12 Colorectal(261;0.0847) TATCTATGCAATGAAGATATT 0.343000 8 73 0 0 1 0 0 UGT2B11 10720 broad.mit.edu 37 4 70066359 70066359 + Missense_Mutation SNP C C A TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr4:70066359C>A ENST00000446444.1 - 6 1397 c.1389G>T c.(1387-1389)tgG>tgT p.W463C RP11-704M14.1_ENST00000504301.1_RNA|RP11-704M14.1_ENST00000505646.1_RNA NM_001073.1 NP_001064.1 O75310 UDB11_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B11 463 estrogen metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 42 CAAATTCAATCCAGAAGACTG 0.413000 19 149 1.33834e-09 2.09372e-09 1 1 0 GPR133 283383 broad.mit.edu 37 12 131498759 131498759 + Missense_Mutation SNP G G T TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr12:131498759G>T ENST00000261654.5 + 13 1906 c.1347G>T c.(1345-1347)atG>atT p.M449I GPR133_ENST00000376682.4_Missense_Mutation_p.M135I|GPR133_ENST00000535015.1_Missense_Mutation_p.M481I NM_198827.3 NP_942122.2 Q6QNK2 GP133_HUMAN G protein-coupled receptor 133 449 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4) 67 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06) CGGAGGCCATGCATCACCAGG 0.592000 8 69 0.27861 0.27861 1 1 0 BTN2A3P 54718 broad.mit.edu 37 6 26431620 26431620 + RNA SNP G G A TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr6:26431620G>A ENST00000466808.2 + 0 1568 GGCCATCTCAGCAGCCACTGC 0.582000 9 81 0 0 1 0 0 LRRTM4 80059 broad.mit.edu 37 2 76975898 76975898 + Missense_Mutation SNP C C A TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr2:76975898C>A ENST00000409911.1 - 3 1922 c.1699G>T c.(1699-1701)Ggc>Tgc p.G567C LRRTM4_ENST00000409093.1_Missense_Mutation_p.G566C|LRRTM4_ENST00000409884.1_Missense_Mutation_p.G566C NM_001134745.1 NP_001128217.1 Q86VH4 LRRT4_HUMAN leucine rich repeat transmembrane neuronal 4 566 integral to membrane autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1) 64 Colorectal(11;0.059) TGGTCTCGGCCCAGCTCCAGG 0.607000 10 96 4.68919e-08 6.99265e-08 1 1 0 OBSCN 84033 broad.mit.edu 37 1 228474602 228474602 + Missense_Mutation SNP C C G TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr1:228474602C>G ENST00000570156.2 + 40 10767 c.10693C>G c.(10693-10695)Cgg>Ggg p.R3565G OBSCN_ENST00000366709.4_Missense_Mutation_p.R255G|OBSCN_ENST00000422127.1_Missense_Mutation_p.R3136G|OBSCN_ENST00000366707.4_Missense_Mutation_p.R255G|OBSCN_ENST00000284548.11_Missense_Mutation_p.R3136G|OBSCN_ENST00000359599.6_Missense_Mutation_p.R1983G NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 2598 Ig-like 36. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) GAAGACCCTGCGGGGGTCTGC 0.642000 6 21 0 0 1 0 0 CDH10 1008 broad.mit.edu 37 5 24537546 24537546 + Nonsense_Mutation SNP C C A TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr5:24537546C>A ENST00000264463.4 - 3 976 c.469G>T c.(469-471)Gag>Tag p.E157* NM_006727.3 NP_006718.2 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 (T2-cadherin) 157 Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4) 185 STAD - Stomach adenocarcinoma(35;0.0556) AACGTTGGCTCATTGTCATTG 0.388000 HNSCC(23;0.051) 13 190 0.0167234 0.0180698 1 1 0 MGA 23269 broad.mit.edu 37 15 42042523 42042523 + Nonsense_Mutation SNP G G T TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr15:42042523G>T ENST00000219905.7 + 17 6899 c.6718G>T c.(6718-6720)Gaa>Taa p.E2240* MGA_ENST00000570161.1_Nonsense_Mutation_p.E2240*|MGA_ENST00000545763.1_Nonsense_Mutation_p.E2031*|MGA_ENST00000389936.4_Nonsense_Mutation_p.E2201*|MGA_ENST00000566586.1_Nonsense_Mutation_p.E2031* NM_001164273.1 NP_001157745.1 Q8IWI9 MGAP_HUMAN MGA, MAX dimerization protein 2201 MLL1 complex DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238) OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235) TTTGAAAACTGAATGTGATTC 0.413000 12 68 0.000978159 0.00115477 1 1 0 SLCO5A1 81796 broad.mit.edu 37 8 70744698 70744698 + Nonsense_Mutation SNP C C A TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr8:70744698C>A ENST00000260126.3 - 2 917 c.211G>T c.(211-213)Gag>Tag p.E71* SLCO5A1_ENST00000524945.1_Nonsense_Mutation_p.E71*|SLCO5A1_ENST00000528658.1_5'UTR|SLCO5A1_ENST00000530307.1_Nonsense_Mutation_p.E71* NM_030958.2 NP_112220.2 Q9H2Y9 SO5A1_HUMAN solute carrier organic anion transporter family, member 5A1 71 integral to membrane|plasma membrane transporter activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Breast(64;0.0654) Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594) TGCTTCAACTCCTGGTGGCCC 0.647000 OREG0018815 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 50 1.52009e-12 2.55015e-12 1 1 0 DICER1 23405 broad.mit.edu 37 14 95562559 95562559 + Silent SNP C C A TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr14:95562559C>A ENST00000526495.1 - 25 4989 c.4698G>T c.(4696-4698)ctG>ctT p.L1566L DICER1_ENST00000393063.1_Silent_p.L1566L|DICER1_ENST00000556045.1_Silent_p.L464L|DICER1_ENST00000527414.1_Silent_p.L1566L|DICER1_ENST00000343455.3_Silent_p.L1566L|DICER1_ENST00000541352.1_Silent_p.L1566L Q9UPY3 DICER_HUMAN dicer 1, ribonuclease type III 1566 negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference cytosol|RNA-induced silencing complex ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3) 75 all_cancers(154;0.0621)|all_epithelial(191;0.223) Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215) AGCAGCCCAGCAGGGCTTCCA 0.517000 """Mis F, N""" """sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma""" pleuropulmonary blastoma Familial Multinodular Goiter ;DICER 1 syndrome 12 142 0.000978159 0.00115477 1 1 0 KCNC2 3747 broad.mit.edu 37 12 75444636 75444636 + Missense_Mutation SNP C C A TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr12:75444636C>A ENST00000549446.1 - 3 1829 c.1149G>T c.(1147-1149)ttG>ttT p.L383F KCNC2_ENST00000540018.1_Missense_Mutation_p.L383F|KCNC2_ENST00000350228.2_Missense_Mutation_p.L383F|KCNC2_ENST00000548513.1_Missense_Mutation_p.L383F|KCNC2_ENST00000548243.1_5'UTR|KCNC2_ENST00000393288.2_Missense_Mutation_p.L383F|KCNC2_ENST00000341669.3_Missense_Mutation_p.L383F|KCNC2_ENST00000550433.1_Missense_Mutation_p.L383F|KCNC2_ENST00000298972.1_Missense_Mutation_p.L383F NM_001260497.1|NM_139137.3 NP_001247426.1|NP_631875.1 Q96PR1 KCNC2_HUMAN potassium voltage-gated channel, Shaw-related subfamily, member 2 383 energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex voltage-gated potassium channel activity breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 54 TTATCAGCAGCAAAAATTCAT 0.443000 9 64 0.000274275 0.000336251 1 1 0 DLG5 9231 broad.mit.edu 37 10 79571788 79571788 + Missense_Mutation SNP T T A TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr10:79571788T>A ENST00000372391.2 - 22 4221 c.4216A>T c.(4216-4218)Acg>Tcg p.T1406S DLG5_ENST00000459739.1_5'UTR|DLG5_ENST00000372388.2_Missense_Mutation_p.T1066S NM_004747.3 NP_004738.3 Q8TDM6 DLG5_HUMAN discs, large homolog 5 (Drosophila) 1406 PDZ 3. cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis cell junction|cytoplasm beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146) Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446) TGCTGCTCCGTGGCGCTCCGC 0.657000 6 63 0 0 1 0 0 PSG2 5670 broad.mit.edu 37 19 43585207 43585207 + Missense_Mutation SNP C C A rs146247259 byFrequency TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr19:43585207C>A ENST00000406487.1 - 2 354 c.256G>T c.(256-258)Ggt>Tgt p.G86C NM_031246.3 NP_112536.2 P11465 PSG2_HUMAN pregnancy specific beta-1-glycoprotein 2 86 Ig-like V-type. cell migration|female pregnancy extracellular region central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2) 49 Prostate(69;0.00682) ATTATTTGACCGTCTACTACA 0.448000 38 289 3.54561e-26 6.50453e-26 1 1 0 TANC1 85461 broad.mit.edu 37 2 160035493 160035493 + Missense_Mutation SNP A A G TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr2:160035493A>G ENST00000263635.6 + 14 2566 c.2329A>G c.(2329-2331)Att>Gtt p.I777V TANC1_ENST00000454300.1_Missense_Mutation_p.I671V NM_001145909.1|NM_033394.2 NP_001139381.1|NP_203752.2 Q9C0D5 TANC1_HUMAN tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 777 cell junction|postsynaptic density|postsynaptic membrane binding breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 77 CTTTCAGGCTATTAATGCTGG 0.562000 22 204 0 0 1 0 0 SCLY 51540 broad.mit.edu 37 2 238978020 238978020 + Missense_Mutation SNP G G T TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr2:238978020G>T ENST00000254663.6 + 4 552 c.410G>T c.(409-411)aGc>aTc p.S137I SCLY_ENST00000555827.1_Missense_Mutation_p.S129I|SCLY_ENST00000373332.3_Missense_Mutation_p.Q25H|SCLY_ENST00000429612.2_Intron|SCLY_ENST00000422984.2_Intron|SCLY_ENST00000409736.2_Missense_Mutation_p.S129I|SCLY_ENST00000480859.1_3'UTR NM_016510.5 NP_057594.4 Q96I15 SCLY_HUMAN selenocysteine lyase 129 cellular amino acid metabolic process cytosol pyridoxal phosphate binding|selenocysteine lyase activity|transferase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1) 22 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244) Epithelial(121;1.37e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.6e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.25e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000128)|Lung(119;0.0118)|LUSC - Lung squamous cell carcinoma(224;0.0285) GGGCACCACAGCCCAGTGAAG 0.522000 6 48 0.00116845 0.00135433 1 1 0 DCHS2 54798 broad.mit.edu 37 4 155287387 155287387 + Silent SNP G G T TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr4:155287387G>T ENST00000357232.3 - 5 668 c.669C>A c.(667-669)tcC>tcA p.S223S DCHS2_ENST00000339452.1_Silent_p.S817S NM_017639.3 NP_060109.2 Q6V1P9 PCD23_HUMAN dachsous cadherin-related 2 223 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 176 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) TGGTAAAAAGGGACGACACGT 0.448000 4 60 0.00024832 0.000307386 1 1 0 MUC16 94025 broad.mit.edu 37 19 9074569 9074569 + Missense_Mutation SNP A A T TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr19:9074569A>T ENST00000397910.4 - 3 13080 c.12877T>A c.(12877-12879)Tcc>Acc p.S4293T NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 4295 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GTCTCGGAGGAGCCAAATACT 0.522000 5 54 0 0 1 0 0 SIPA1L1 26037 broad.mit.edu 37 14 72090866 72090866 + Silent SNP G G T TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr14:72090866G>T ENST00000555818.1 + 4 2079 c.1731G>T c.(1729-1731)gtG>gtT p.V577V SIPA1L1_ENST00000537413.1_Silent_p.V52V|SIPA1L1_ENST00000358550.2_Silent_p.V577V|SIPA1L1_ENST00000381232.3_Silent_p.V577V NM_015556.1 NP_056371.1 O43166 SI1L1_HUMAN signal-induced proliferation-associated 1 like 1 577 actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome GTPase activator activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1) 78 all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109) TGGAGCACGTGGTTCCTGAGC 0.562000 24 154 2.41591e-17 4.27818e-17 1 1 0 ACCSL 390110 broad.mit.edu 37 11 44080221 44080221 + Silent SNP T T C TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr11:44080221T>C ENST00000378832.1 + 13 1652 c.1596T>C c.(1594-1596)ttT>ttC p.F532F NM_001031854.2 NP_001027025.2 Q4AC99 1A1L2_HUMAN 1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like 532 1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2) 34 GCCTCATCTTTGCAGATGAGC 0.502000 7 61 0 0 1 0 0 KDM2B 84678 broad.mit.edu 37 12 121882328 121882328 + Silent SNP T T A TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr12:121882328T>A ENST00000377069.4 - 15 2428 c.2022A>T c.(2020-2022)tcA>tcT p.S674S KDM2B_ENST00000542973.1_Silent_p.S73S|KDM2B_ENST00000536437.1_Intron|KDM2B_ENST00000377071.4_Silent_p.S705S NM_001005366.1 NP_001005366.1 Q8NHM5 KDM2B_HUMAN lysine (K)-specific demethylase 2B 705 embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 19 CCACACCCTCTGACTCCTTAA 0.607000 8 60 0 0 1 0 0 OR4K5 79317 broad.mit.edu 37 14 20388985 20388985 + Missense_Mutation SNP G G T TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr14:20388985G>T ENST00000315915.4 + 1 245 c.220G>T c.(220-222)Gct>Tct p.A74S NM_001005483.1 NP_001005483.1 Q8NGD3 OR4K5_HUMAN olfactory receptor, family 4, subfamily K, member 5 74 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 47 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) CATTTGTCAGGCTTCTTTTGC 0.418000 23 381 3.01185e-09 4.65467e-09 1 1 0 OR10J1 26476 broad.mit.edu 37 1 159410064 159410064 + Silent SNP A A T TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr1:159410064A>T ENST00000423932.3 + 1 553 c.516A>T c.(514-516)acA>acT p.T172T RP11-550P17.5_ENST00000431862.1_RNA NM_012351.2 NP_036483.2 P30954 O10J1_HUMAN olfactory receptor, family 10, subfamily J, member 1 172 sensory perception of smell|single fertilization integral to plasma membrane olfactory receptor activity endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1) 25 all_hematologic(112;0.0429) CGCAAGTGACATCTGTATTCA 0.498000 31 182 0 0 1 0 0 SNX2 6643 broad.mit.edu 37 5 122163095 122163095 + Missense_Mutation SNP G G T TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr5:122163095G>T ENST00000379516.2 + 13 1486 c.1378G>T c.(1378-1380)Ggg>Tgg p.G460W SNX2_ENST00000514949.1_Missense_Mutation_p.G343W|SNX2_ENST00000510372.1_3'UTR NM_003100.2 NP_003091.2 O60749 SNX2_HUMAN sorting nexin 2 460 cell communication|endocytosis|intracellular protein transport early endosome membrane phosphatidylinositol binding|protein binding|protein transporter activity NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)|skin(1) 19 all_cancers(142;1.14e-44)|all_lung(232;1.03e-13)|Lung NSC(810;2.5e-13)|Breast(839;0.000812)|Myeloproliferative disorder(839;0.0122)|Prostate(80;0.0235)|all_hematologic(541;0.0592)|all_neural(839;0.243) KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137) all cancers(49;2.13e-24)|Epithelial(69;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(64;5.6e-11)|BRCA - Breast invasive adenocarcinoma(61;0.00013)|GBM - Glioblastoma multiforme(465;0.000357)|COAD - Colon adenocarcinoma(49;0.000887)|Lung(113;0.0109) AGTGCAACAAGGGGAAAGAGA 0.313000 5 84 3.59834e-05 4.58788e-05 1 1 0 TAS2R40 259286 broad.mit.edu 37 7 142920023 142920023 + Silent SNP C C T TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr7:142920023C>T ENST00000408947.3 + 1 894 c.852C>T c.(850-852)atC>atT p.I284I NM_176882.1 NP_795363.1 P59535 T2R40_HUMAN taste receptor, type 2, member 40 284 sensory perception of taste integral to membrane G-protein coupled receptor activity kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1) 8 Melanoma(164;0.059) GCAAGATCATCATGGCTGCCT 0.468000 7 148 0 0 1 0 0 LRRTM2 26045 broad.mit.edu 37 5 138209593 138209593 + Missense_Mutation SNP C C G TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr5:138209593C>G ENST00000274711.6 - 2 1035 c.657G>C c.(655-657)aaG>aaC p.K219N CTNNA1_ENST00000520400.1_Intron|CTNNA1_ENST00000518825.1_Intron|LRRTM2_ENST00000521094.2_Intron|LRRTM2_ENST00000518785.1_3'UTR|CTNNA1_ENST00000355078.5_Intron|CTNNA1_ENST00000302763.7_Intron NM_015564.2 NP_056379.1 O43300 LRRT2_HUMAN leucine rich repeat transmembrane neuronal 2 219 cell junction|integral to membrane|postsynaptic membrane NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|urinary_tract(1) 16 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) CAAAATTAATCTTCGTCAGCT 0.448000 35 311 0 0 1 0 0 C1orf74 148304 broad.mit.edu 37 1 209956756 209956756 + Missense_Mutation SNP C C A rs140853587 TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr1:209956756C>A ENST00000294811.1 - 2 480 c.224G>T c.(223-225)gGg>gTg p.G75V NM_152485.2 NP_689698.1 Q96LT6 CA074_HUMAN chromosome 1 open reading frame 74 75 endometrium(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1) 15 OV - Ovarian serous cystadenocarcinoma(81;0.0328) GAAGCCAAGCCCCTTCAGCTC 0.547000 9 54 1.12685e-05 1.50443e-05 1 1 0 FAM154B 283726 broad.mit.edu 37 15 82574554 82574554 + Silent SNP A A T rs141621278 byFrequency TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr15:82574554A>T ENST00000339465.5 + 3 417 c.348A>T c.(346-348)acA>acT p.T116T FAM154B_ENST00000565501.1_3'UTR|FAM154B_ENST00000427381.2_Silent_p.T101T NM_001008226.1 NP_001008227.1 Q658L1 F154B_HUMAN family with sequence similarity 154, member B 116 autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2) 19 ATTCAACTACATTTCAGGATG 0.393000 22 134 0 0 1 0 0 RILP 83547 broad.mit.edu 37 17 1549867 1549867 + Missense_Mutation SNP T T A TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr17:1549867T>A ENST00000301336.6 - 8 1347 c.1075A>T c.(1075-1077)Acc>Tcc p.T359S NM_031430.2 NP_113618.2 Q96NA2 RILP_HUMAN Rab interacting lysosomal protein 359 endosome to lysosome transport|protein transport late endosome membrane|lysosomal membrane|phagocytic vesicle membrane Rab GTPase binding endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(4) 15 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) GGGCTGCTGGTCTCATCCTCA 0.582000 13 133 0 0 1 0 0 ARHGAP36 158763 broad.mit.edu 37 X 130222714 130222714 + Silent SNP C C G TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chrX:130222714C>G ENST00000276211.5 + 12 1944 c.1599C>G c.(1597-1599)ccC>ccG p.P533P ARHGAP36_ENST00000370922.1_Silent_p.P521P|ARHGAP36_ENST00000370921.1_Silent_p.P397P NM_144967.3 NP_659404.2 Q6ZRI8 RHG36_HUMAN Rho GTPase activating protein 36 533 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2) 71 TCCGTGTGCCCCGGGAGAAGG 0.577000 6 27 0 0 1 0 0 SLC4A7 9497 broad.mit.edu 37 3 27460108 27460108 + Missense_Mutation SNP C C A TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr3:27460108C>A ENST00000295736.5 - 11 1571 c.1501G>T c.(1501-1503)Gct>Tct p.A501S SLC4A7_ENST00000454389.1_Missense_Mutation_p.A510S|SLC4A7_ENST00000428386.1_Missense_Mutation_p.A377S|SLC4A7_ENST00000435667.2_Missense_Mutation_p.A386S|SLC4A7_ENST00000388777.4_Missense_Mutation_p.A51S|SLC4A7_ENST00000437179.1_Missense_Mutation_p.A382S|SLC4A7_ENST00000445684.1_Missense_Mutation_p.A497S|SLC4A7_ENST00000440156.1_Missense_Mutation_p.A497S|SLC4A7_ENST00000446700.1_Missense_Mutation_p.A493S|SLC4A7_ENST00000425128.2_Missense_Mutation_p.A493S|SLC4A7_ENST00000455077.1_Missense_Mutation_p.A382S NM_003615.4 NP_003606.3 Q9Y6M7 S4A7_HUMAN solute carrier family 4, sodium bicarbonate cotransporter, member 7 501 apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1) 38 GCTTTATAAGCTACATCATGG 0.308000 3 23 0.115264 0.119481 1 1 0 TMEM176A 55365 broad.mit.edu 37 7 150501929 150501929 + Silent SNP G G A TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr7:150501929G>A ENST00000484928.1 + 7 1262 c.681G>A c.(679-681)aaG>aaA p.K227K TMEM176A_ENST00000461345.1_Silent_p.K168K|TMEM176A_ENST00000004103.3_Silent_p.K227K Q96HP8 T176A_HUMAN transmembrane protein 176A 227 integral to membrane breast(1)|endometrium(1)|lung(7)|ovary(2)|stomach(1) 12 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GAGACCAGAAGGAAATGTTGG 0.522000 10 91 0 0 1 0 0 GLRA3 8001 broad.mit.edu 37 4 175688114 175688114 + Splice_Site SNP C C A TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr4:175688114C>A ENST00000274093.3 - 3 769 c.267_splice c.e3+1 p.M89_splice GLRA3_ENST00000340217.5_Splice_Site_p.M89_splice NM_006529.2 NP_006520.2 O75311 GLRA3_HUMAN glycine receptor, alpha 3 89 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 35 Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107) all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421) Glycine(DB00145) AAATGCCTACCATGGTCGTCT 0.353000 9 108 0.00621372 0.00688912 1 1 0 F3 2152 broad.mit.edu 37 1 95001593 95001593 + Missense_Mutation SNP T T A TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr1:95001593T>A ENST00000334047.7 - 3 503 c.340A>T c.(340-342)Aat>Tat p.N114Y F3_ENST00000480356.1_5'UTR|F3_ENST00000370207.4_Missense_Mutation_p.N114Y NM_001993.4 NP_001984.1 P13726 TF_HUMAN coagulation factor III (thromboplastin, tissue factor) 114 activation of caspase activity|activation of plasma proteins involved in acute inflammatory response|anti-apoptosis|blood coagulation, extrinsic pathway|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of protein kinase B signaling cascade extracellular matrix|extracellular space|integral to membrane cell surface binding|phospholipid binding|protease binding NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7) 14 all_lung(203;0.00106)|Lung NSC(277;0.00475) all cancers(265;0.0232)|Epithelial(280;0.121) Coagulation factor VIIa(DB00036) CTCTCCACATTCCCTGCAGGG 0.527000 14 161 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25327736 25327736 + RNA SNP G G T TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr15:25327736G>T ENST00000546682.1 + 0 72 SNHG14_ENST00000549804.2_RNA NR_003361.1 TACTTCCTAGGTGGTGTGGGC 0.537000 3 16 0.004672 0.00522526 1 1 0 LRRTM4 80059 broad.mit.edu 37 2 76975914 76975914 + Missense_Mutation SNP G G C TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr2:76975914G>C ENST00000409911.1 - 3 1906 c.1683C>G c.(1681-1683)agC>agG p.S561R LRRTM4_ENST00000409093.1_Missense_Mutation_p.S560R|LRRTM4_ENST00000409884.1_Missense_Mutation_p.S560R NM_001134745.1 NP_001128217.1 Q86VH4 LRRT4_HUMAN leucine rich repeat transmembrane neuronal 4 560 integral to membrane p.S560S(1) autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1) 64 Colorectal(11;0.059) CCAGGCCGGGGCTTTCGTCCT 0.587000 12 89 0 0 1 0 0 SMC2 10592 broad.mit.edu 37 9 106877090 106877090 + Missense_Mutation SNP A A G TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr9:106877090A>G ENST00000286398.7 + 13 1939 c.1651A>G c.(1651-1653)Aat>Gat p.N551D SMC2_ENST00000374787.3_Missense_Mutation_p.N551D|SMC2_ENST00000374793.3_Missense_Mutation_p.N551D|SMC2_ENST00000303219.8_Missense_Mutation_p.N551D NM_001042551.1|NM_001265602.1|NM_006444.2 NP_001036016.1|NP_001252531.1|NP_006435.2 O95347 SMC2_HUMAN structural maintenance of chromosomes 2 551 Flexible hinge. cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism condensin complex|cytoplasm|nuclear chromosome ATP binding|protein heterodimerization activity breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2) 48 ACGACTCTACAATGTTGTAGT 0.328000 5 67 0 0 1 0 0 ZNF521 25925 broad.mit.edu 37 18 22805950 22805950 + Silent SNP T T A TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr18:22805950T>A ENST00000361524.3 - 4 2080 c.1932A>T c.(1930-1932)acA>acT p.T644T ZNF521_ENST00000538137.2_Silent_p.T644T|ZNF521_ENST00000584787.1_Silent_p.T424T NM_015461.2 NP_056276.1 Q96K83 ZN521_HUMAN zinc finger protein 521 644 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 149 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) TGTCTAGGGATGTGTACTTAG 0.458000 T PAX5 ALL 13 193 0 0 1 0 0 HHIPL2 79802 broad.mit.edu 37 1 222713400 222713400 + Missense_Mutation SNP C C T TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr1:222713400C>T ENST00000343410.6 - 4 1460 c.1402G>A c.(1402-1404)Gaa>Aaa p.E468K NM_024746.3 NP_079022.2 Q6UWX4 HIPL2_HUMAN HHIP-like 2 468 carbohydrate metabolic process extracellular region oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 GBM - Glioblastoma multiforme(131;0.0185) GCAAACCCTTCCTTTGCTCTC 0.488000 10 117 0 0 1 0 0 ZNF780B 163131 broad.mit.edu 37 19 40540449 40540449 + Missense_Mutation SNP T T C TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr19:40540449T>C ENST00000434248.1 - 5 2382 c.2317A>G c.(2317-2319)Agt>Ggt p.S773G ZNF780B_ENST00000221355.6_Missense_Mutation_p.S625G NM_001005851.2 NP_001005851.1 Q9Y6R6 Z780B_HUMAN zinc finger protein 780B 773 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 23 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) GTATGAATACTCTGAGGTTGA 0.423000 14 91 0 0 1 0 0 COL21A1 81578 broad.mit.edu 37 6 55924820 55924820 + Silent SNP T T C TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr6:55924820T>C ENST00000244728.5 - 28 3001 c.2604A>G c.(2602-2604)ttA>ttG p.L868L COL21A1_ENST00000535941.1_Silent_p.L868L|COL21A1_ENST00000370808.2_Silent_p.L234L|COL21A1_ENST00000370819.1_Silent_p.L865L|COL21A1_ENST00000467045.1_5'UTR NM_030820.3 NP_110447.2 Q96P44 COLA1_HUMAN collagen, type XXI, alpha 1 868 Collagen-like 6. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2) 41 Lung NSC(77;0.0483) LUSC - Lung squamous cell carcinoma(124;0.181) GCATACCTTTTAATCCTCTGA 0.398000 16 86 0 0 1 0 0 KDR 3791 broad.mit.edu 37 4 55970819 55970819 + Missense_Mutation SNP T T A TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr4:55970819T>A ENST00000263923.4 - 13 2273 c.1978A>T c.(1978-1980)Aca>Tca p.T660S NM_002253.2 NP_002244.1 P35968 VGFR2_HUMAN kinase insert domain receptor (a type III receptor tyrosine kinase) 660 Ig-like C2-type 6. angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 135 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) CCTAGGACTGTGAGCTGCCTG 0.473000 Mis """NSCLC, angiosarcoma""" TSP Lung(20;0.16) 6 24 0 0 1 0 0 NCOA6 23054 broad.mit.edu 37 20 33328573 33328573 + Silent SNP G G A TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr20:33328573G>A ENST00000374796.2 - 12 8057 c.5487C>T c.(5485-5487)acC>acT p.T1829T NCOA6_ENST00000359003.2_Silent_p.T1829T Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 1829 EP300/CRSP3-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 TACATGCCTTGGTCAACAAAA 0.493000 23 163 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126372247 126372247 + Missense_Mutation SNP G G T rs34531924 TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr4:126372247G>T ENST00000394329.3 + 9 10089 c.10076G>T c.(10075-10077)gGa>gTa p.G3359V FAT4_ENST00000335110.5_Missense_Mutation_p.G1657V NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 3359 Cadherin 32. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 TATGTTTCTGGAATTCTTGAT 0.393000 21 169 8.04996e-18 1.43548e-17 1 1 0 OR5B21 219968 broad.mit.edu 37 11 58274771 58274771 + Missense_Mutation SNP T T A TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr11:58274771T>A ENST00000360374.2 - 1 807 c.808A>T c.(808-810)Ata>Tta p.I270L NM_001005218.1 NP_001005218.1 A6NL26 OR5BL_HUMAN olfactory receptor, family 5, subfamily B, member 21 270 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Esophageal squamous(5;0.0027) Breast(21;0.0778) ACAGAGGCTATTTTGTCTGTG 0.448000 7 125 0 0 1 0 0 ZNF804A 91752 broad.mit.edu 37 2 185800932 185800932 + Missense_Mutation SNP G G T TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr2:185800932G>T ENST00000302277.6 + 4 1403 c.809G>T c.(808-810)aGt>aTt p.S270I NM_194250.1 NP_919226.1 Q7Z570 Z804A_HUMAN zinc finger protein 804A 270 intracellular zinc ion binding NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1) 146 GTGCTTTTGAGTTCTGAGGAG 0.393000 15 104 4.7546e-09 7.30376e-09 1 1 0 PER3 8863 broad.mit.edu 37 1 7879479 7879479 + Splice_Site SNP A A T TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr1:7879479A>T ENST00000377532.3 + 13 1881 c.1658_splice c.e13+1 p.R553_splice PER3_ENST00000361923.2_Splice_Site_p.R545_splice|RP3-467L1.4_ENST00000451646.1_RNA P56645 PER3_HUMAN period circadian clock 3 545 CSNK1E binding domain (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus signal transducer activity breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 39 Ovarian(185;0.0634)|all_lung(157;0.178) all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649) CAGTGTCATCAGGTATGAGAC 0.438000 17 155 0 0 1 0 0 SLC5A11 115584 broad.mit.edu 37 16 24902277 24902277 + Missense_Mutation SNP G G T TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr16:24902277G>T ENST00000347898.3 + 9 1374 c.752G>T c.(751-753)gGg>gTg p.G251V SLC5A11_ENST00000545376.1_Missense_Mutation_p.G181V|SLC5A11_ENST00000539472.1_Missense_Mutation_p.G187V|SLC5A11_ENST00000449109.2_Intron|SLC5A11_ENST00000567758.1_Missense_Mutation_p.G216V|SLC5A11_ENST00000565769.1_Missense_Mutation_p.G187V|SLC5A11_ENST00000568579.1_Missense_Mutation_p.G181V|SLC5A11_ENST00000569071.1_Intron|SLC5A11_ENST00000424767.2_Missense_Mutation_p.G216V NM_052944.3 NP_443176.2 Q8WWX8 SC5AB_HUMAN solute carrier family 5 (sodium/inositol cotransporter), member 11 251 apoptosis|carbohydrate transport|sodium ion transport integral to membrane|plasma membrane polyol transmembrane transporter activity|symporter activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1) 49 GBM - Glioblastoma multiforme(48;0.0365) AGCAGCTGCGGGCTGCCCCGG 0.567000 21 166 1.01871e-10 1.6546e-10 1 1 0 CDH6 1004 broad.mit.edu 37 5 31323352 31323352 + Missense_Mutation SNP G G T TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr5:31323352G>T ENST00000265071.2 + 12 2575 c.2310G>T c.(2308-2310)tgG>tgT p.W770C NM_004932.3 NP_004923.1 P55285 CADH6_HUMAN cadherin 6, type 2, K-cadherin (fetal kidney) 770 adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 TTAGTGACTGGGGACCTCGAT 0.478000 8 95 0.00448238 0.00505755 1 1 0 FRS2 10818 broad.mit.edu 37 12 69968091 69968091 + Nonsense_Mutation SNP C C T TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr12:69968091C>T ENST00000299293.2 + 10 1393 c.883C>T c.(883-885)Cga>Tga p.R295* FRS2_ENST00000549921.1_Nonsense_Mutation_p.R295*|FRS2_ENST00000397997.2_Nonsense_Mutation_p.R295*|FRS2_ENST00000550389.1_Nonsense_Mutation_p.R295* NM_001278351.1|NM_006654.3 NP_001265280.1|NP_006645.3 Q8WU20 FRS2_HUMAN fibroblast growth factor receptor substrate 2 295 activation of MAPKK activity|activation of phospholipase C activity|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|transmembrane receptor protein tyrosine phosphatase signaling pathway endomembrane system|endosome|integral to plasma membrane|membrane fraction fibroblast growth factor receptor binding|insulin receptor binding|phosphatase activator activity|transmembrane receptor protein tyrosine kinase adaptor activity autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 Breast(13;2.15e-06)|Esophageal squamous(21;0.187) Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24) CAGTGATGAACGAAGAGATGC 0.443000 6 92 0 0 1 0 0 CASR 846 broad.mit.edu 37 3 122002558 122002558 + Missense_Mutation SNP C C A TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr3:122002558C>A ENST00000498619.1 + 7 2225 c.1787C>A c.(1786-1788)cCa>cAa p.P596Q CASR_ENST00000296154.5_Missense_Mutation_p.P586Q|CASR_ENST00000490131.1_Missense_Mutation_p.P586Q NM_001178065.1 NP_001171536.1 P41180 CASR_HUMAN calcium-sensing receptor 586 anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification integral to plasma membrane G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 GBM - Glioblastoma multiforme(114;0.226) Cinacalcet(DB01012) AACAAGTGCCCAGATGACTTC 0.502000 7 75 0.0381472 0.039867 1 1 0 OR2L2 26246 broad.mit.edu 37 1 248201638 248201638 + Silent SNP C C A TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr1:248201638C>A ENST00000366479.2 + 1 165 c.69C>A c.(67-69)ggC>ggA p.G23G OR2L13_ENST00000366478.2_Intron NM_001004686.2 NP_001004686.1 Q8NH16 OR2L2_HUMAN olfactory receptor, family 2, subfamily L, member 2 23 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1) 42 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) CAAGAATTGGCCTTTTCGTAT 0.388000 25 192 3.6726e-16 6.41448e-16 1 1 0 ZNRD1-AS1 80862 broad.mit.edu 37 6 29974845 29974845 + RNA SNP G G C TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr6:29974845G>C ENST00000376797.3 - 0 1346 ZNRD1-AS1_ENST00000448093.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA AGAGCGAGGCGGGTGAGTGAC 0.667000 3 14 0 0 1 0 0 KCNC1 3746 broad.mit.edu 37 11 17793415 17793415 + Missense_Mutation SNP C C A TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr11:17793415C>A ENST00000379472.3 + 2 804 c.774C>A c.(772-774)ttC>ttA p.F258L KCNC1_ENST00000265969.6_Missense_Mutation_p.F258L NM_004976.4 NP_004967.1 P48547 KCNC1_HUMAN potassium voltage-gated channel, Shaw-related subfamily, member 1 258 voltage-gated potassium channel complex voltage-gated potassium channel activity p.F258F(2) breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 33 GGTTCACCTTCGAGTTCCTCA 0.547000 11 177 3.03607e-14 5.19596e-14 1 1 0 EEA1 8411 broad.mit.edu 37 12 93210069 93210069 + Silent SNP T T C TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr12:93210069T>C ENST00000322349.8 - 15 2100 c.1836A>G c.(1834-1836)gcA>gcG p.A612A NM_003566.3 NP_003557.2 Q15075 EEA1_HUMAN early endosome antigen 1 612 Gln/Glu/Lys-rich. early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction 1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 36 CACGGTCTTGTGCAGCTCTAA 0.408000 8 115 0 0 1 0 0 TPK1 27010 broad.mit.edu 37 7 144320274 144320274 + Missense_Mutation SNP T T G TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr7:144320274T>G ENST00000360057.3 - 6 441 c.339A>C c.(337-339)gaA>gaC p.E113D TPK1_ENST00000538212.2_Missense_Mutation_p.E108D|TPK1_ENST00000378099.3_Missense_Mutation_p.E113D|TPK1_ENST00000549981.1_5'UTR|TPK1_ENST00000547966.1_5'UTR NM_022445.3 NP_071890.2 Q9H3S4 TPK1_HUMAN thiamin pyrophosphokinase 1 113 thiamine diphosphate biosynthetic process cytosol ATP binding|kinase activity|thiamine diphosphokinase activity large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2) 19 Thiamine(DB00152) AGTCTTTTTCTTCTATCTTCT 0.318000 17 142 0 0 1 0 0 UBE4B 10277 broad.mit.edu 37 1 10209326 10209326 + Missense_Mutation SNP A A T TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr1:10209326A>T ENST00000377157.3 + 19 3002 c.1941A>T c.(1939-1941)ttA>ttT p.L647F UBE4B_ENST00000253251.8_Missense_Mutation_p.L763F|UBE4B_ENST00000343090.6_Missense_Mutation_p.L892F NM_006048.4 NP_006039.2 O95155 UBE4B_HUMAN ubiquitination factor E4B 892 apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV cytoplasm|ubiquitin ligase complex enzyme binding NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 48 all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046) CAGAATTTTTATTTTTTATTG 0.303000 10 78 0 0 1 0 0 POF1B 79983 broad.mit.edu 37 X 84634367 84634367 + Silent SNP G G A TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chrX:84634367G>A ENST00000262753.4 - 2 238 c.93C>T c.(91-93)caC>caT p.H31H POF1B_ENST00000373145.3_Silent_p.H31H NM_024921.3 NP_079197.3 Q8WVV4 POF1B_HUMAN premature ovarian failure, 1B 31 actin binding central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1) 35 GATGGTAGCAGTGGTAATGCT 0.562000 7 19 0 0 1 0 0 KLK15 55554 broad.mit.edu 37 19 51330313 51330313 + Missense_Mutation SNP C C A TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr19:51330313C>A ENST00000326856.4 - 4 428 c.299G>T c.(298-300)cGc>cTc p.R100L KLK15_ENST00000301421.2_Missense_Mutation_p.R101L|KLK15_ENST00000598239.1_Missense_Mutation_p.R101L|KLK15_ENST00000416184.1_Missense_Mutation_p.R101L|KLK15_ENST00000596931.1_Missense_Mutation_p.R100L NM_001277081.1 NP_001264010.1 Q9H2R5 KLK15_HUMAN kallikrein-related peptidase 15 101 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1) 24 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143) GCGGTGGCTGCGCGCTTCGTA 0.677000 9 71 5.4927e-09 8.33714e-09 1 1 0 IRX6 79190 broad.mit.edu 37 16 55362818 55362818 + Missense_Mutation SNP G G C TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr16:55362818G>C ENST00000290552.7 + 5 2260 c.928G>C c.(928-930)Ggc>Cgc p.G310R RP11-26L20.3_ENST00000558730.2_RNA NM_024335.2 NP_077311.2 P78412 IRX6_HUMAN iroquois homeobox 6 310 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 33 CAGGGAGTGCGGCCTGGCTGC 0.652000 8 80 0 0 1 0 0 KCNA5 3741 broad.mit.edu 37 12 5153877 5153877 + Silent SNP G G T TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr12:5153877G>T ENST00000252321.3 + 1 793 c.564G>T c.(562-564)ccG>ccT p.P188P NM_002234.3 NP_002225.2 P22460 KCNA5_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 5 188 RP -> G (in Ref. 1; AAA61276). Golgi apparatus|voltage-gated potassium channel complex delayed rectifier potassium channel activity NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2) 52 TGCGGAGGCCGGTCAACGTCT 0.622000 6 68 0.0215528 0.0229956 1 1 0 KRT73 319101 broad.mit.edu 37 12 53005055 53005055 + Missense_Mutation SNP T T C TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr12:53005055T>C ENST00000305748.3 - 6 1077 c.1043A>G c.(1042-1044)aAt>aGt p.N348S RP11-641A6.2_ENST00000551089.1_RNA|RP11-641A6.2_ENST00000552364.1_RNA NM_175068.2 NP_778238.1 Q86Y46 K2C73_HUMAN keratin 73 348 Coil 2.|Rod. keratin filament structural molecule activity NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 BRCA - Breast invasive adenocarcinoma(357;0.189) TGAGATCTCATTTTTGGTGTG 0.537000 9 94 0 0 1 0 0 PRKACB 5567 broad.mit.edu 37 1 84668381 84668381 + Missense_Mutation SNP G G T TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr1:84668381G>T ENST00000370689.2 + 8 922 c.658G>T c.(658-660)Gtg>Ttg p.V220L PRKACB_ENST00000394838.2_Missense_Mutation_p.V227L|PRKACB_ENST00000370682.3_Missense_Mutation_p.V224L|PRKACB_ENST00000370680.1_Missense_Mutation_p.V226L|PRKACB_ENST00000370685.3_Missense_Mutation_p.V267L|PRKACB_ENST00000370688.3_Missense_Mutation_p.V220L|PRKACB_ENST00000394839.2_Missense_Mutation_p.V190L NM_001242862.1|NM_002731.2 NP_001229791.1|NP_002722.1 P22694 KAPCB_HUMAN protein kinase, cAMP-dependent, catalytic, beta 220 Protein kinase. activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|regulation of insulin secretion|synaptic transmission|transmembrane transport|triglyceride catabolic process|water transport cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane ATP binding|cAMP-dependent protein kinase activity|magnesium ion binding|protein binding breast(1)|endometrium(2)|kidney(1)|lung(11)|ovary(1) 16 all cancers(265;0.00536)|Epithelial(280;0.0161)|OV - Ovarian serous cystadenocarcinoma(397;0.141) CAATAAGGCAGTGGATTGGTG 0.378000 8 123 5.4927e-09 8.33714e-09 1 1 0 KCNH6 81033 broad.mit.edu 37 17 61607561 61607561 + Silent SNP C C T TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr17:61607561C>T ENST00000583023.1 + 3 428 c.417C>T c.(415-417)tgC>tgT p.C139C KCNH6_ENST00000580652.1_Silent_p.C139C|KCNH6_ENST00000581784.1_Silent_p.C139C|KCNH6_ENST00000314672.5_Silent_p.C139C|KCNH6_ENST00000456941.2_Silent_p.C139C NM_030779.2 NP_110406.1 Q9H252 KCNH6_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 6 139 PAC. regulation of transcription, DNA-dependent|signal transduction breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 Ibutilide(DB00308) TGGCCAAGTGCAGCAGCCGCA 0.632000 5 47 0 0 1 0 0 OCA2 4948 broad.mit.edu 37 15 28230313 28230313 + Silent SNP G G T TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr15:28230313G>T ENST00000354638.3 - 13 1416 c.1261C>A c.(1261-1263)Cgg>Agg p.R421R OCA2_ENST00000353809.5_Silent_p.R397R|OCA2_ENST00000382996.2_Silent_p.R421R NM_000275.2 NP_000266.2 Q04671 P_HUMAN oculocutaneous albinism II 421 eye pigment biosynthetic process endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding p.R421W(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234) all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045) GCCCACACCCGTCCCCGGGAG 0.572000 Oculocutaneous Albinism 5 25 5.9392e-07 8.5084e-07 1 1 0 GABRA6 2559 broad.mit.edu 37 5 161119121 161119121 + Missense_Mutation SNP A A G TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr5:161119121A>G ENST00000523217.1 + 8 1213 c.971A>G c.(970-972)aAg>aGg p.K324R GABRA6_ENST00000274545.5_Missense_Mutation_p.K334R NM_000811.2 NP_000802.2 Q16445 GBRA6_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 6 334 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2) 57 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) CAGACACAGAAGGCCAAAAGG 0.438000 TCGA Ovarian(5;0.080) 9 88 0 0 1 0 0 EFCAB12 90288 broad.mit.edu 37 3 129123224 129123224 + Missense_Mutation SNP C C G TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr3:129123224C>G ENST00000505956.1 - 7 1434 c.1272G>C c.(1270-1272)aaG>aaC p.K424N EFCAB12_ENST00000326085.3_Missense_Mutation_p.K424N NM_207307.1 NP_997190.1 EF-hand calcium binding domain 12 GGAAAATGATCTTGTCTCCTG 0.567000 7 103 0 0 1 0 0 RELN 5649 broad.mit.edu 37 7 103341396 103341396 + Missense_Mutation SNP T T C TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr7:103341396T>C ENST00000424685.2 - 9 1022 c.863A>G c.(862-864)aAg>aGg p.K288R RELN_ENST00000428762.1_Missense_Mutation_p.K288R|RELN_ENST00000343529.5_Missense_Mutation_p.K288R P78509 RELN_HUMAN reelin 288 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) AGAGTTATTCTTGGCATATAA 0.343000 10 114 0 0 1 0 0 SMEK1 55671 broad.mit.edu 37 14 91928502 91928502 + Silent SNP T T A TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr14:91928502T>A ENST00000554684.1 - 13 2512 c.2016A>T c.(2014-2016)acA>acT p.T672T SMEK1_ENST00000555462.1_Silent_p.T446T|SMEK1_ENST00000554943.1_Silent_p.T685T|SMEK1_ENST00000428424.2_Silent_p.T446T|SMEK1_ENST00000337238.4_Silent_p.T672T|SMEK1_ENST00000555718.1_5'UTR Q6IN85 P4R3A_HUMAN SMEK homolog 1, suppressor of mek1 (Dictyostelium) 685 microtubule organizing center|nucleus protein binding NS(1)|endometrium(1)|kidney(1)|liver(1)|lung(1)|stomach(1) 6 all_cancers(154;0.0691)|all_epithelial(191;0.219) COAD - Colon adenocarcinoma(157;0.221) CATCTTCATCTGTGTTAAACC 0.368000 7 32 0 0 1 0 0 GGA2 23062 broad.mit.edu 37 16 23491168 23491168 + Silent SNP C C A TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr16:23491168C>A ENST00000309859.4 - 11 1129 c.1047G>T c.(1045-1047)ctG>ctT p.L349L GGA2_ENST00000567468.1_Intron|GGA2_ENST00000569182.1_5'UTR NM_015044.4 NP_055859.1 Q9UJY4 GGA2_HUMAN golgi-associated, gamma adaptin ear containing, ARF binding protein 2 349 Unstructured hinge. intracellular protein transport|vesicle-mediated transport clathrin adaptor complex|clathrin-coated vesicle|endosome membrane|trans-Golgi network ADP-ribosylation factor binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(4)|ovary(1) 21 GBM - Glioblastoma multiforme(48;0.0386) CCAAGTCAATCAGGGGGCAGG 0.537000 8 41 0.0381472 0.039867 1 1 0 TMEM246 84302 broad.mit.edu 37 9 104238240 104238240 + Missense_Mutation SNP C C A TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr9:104238240C>A ENST00000374851.1 - 4 2282 c.1135G>T c.(1135-1137)Gta>Tta p.V379L RP11-490D19.6_ENST00000425734.1_RNA|TMEM246_ENST00000374848.3_Missense_Mutation_p.V379L|RP11-490D19.6_ENST00000431507.1_RNA|RP11-490D19.6_ENST00000424154.1_RNA|TMEM246_ENST00000374847.1_Missense_Mutation_p.V379L|RP11-490D19.6_ENST00000450109.1_RNA Q9BRR3 CI125_HUMAN transmembrane protein 246 379 integral to membrane GGCTCCACTACATAGGCCCTC 0.562000 7 66 0.248553 0.249531 1 1 0 EPHA6 285220 broad.mit.edu 37 3 97311492 97311492 + Missense_Mutation SNP C C A TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr3:97311492C>A ENST00000389672.5 + 12 2461 c.2423C>A c.(2422-2424)cCc>cAc p.P808H EPHA6_ENST00000514100.1_Missense_Mutation_p.P200H|EPHA6_ENST00000502694.1_Missense_Mutation_p.P200H|EPHA6_ENST00000442602.2_Missense_Mutation_p.P174H NM_001080448.2 NP_001073917.2 Q9UF33 EPHA6_HUMAN EPH receptor A6 713 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2) 101 GCGTTTTGCCCCAGCTTCCTG 0.483000 8 50 1.12685e-05 1.50443e-05 1 1 0 FANCA 2175 broad.mit.edu 37 16 89851301 89851301 + Missense_Mutation SNP C C A TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr16:89851301C>A ENST00000389301.3 - 15 1461 c.1431G>T c.(1429-1431)ttG>ttT p.L477F FANCA_ENST00000568369.1_Missense_Mutation_p.L477F NM_000135.2 NP_000126.2 O15360 FANCA_HUMAN Fanconi anemia, complementation group A 477 DNA repair|protein complex assembly cytoplasm|nucleoplasm protein binding breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3) 47 Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.028) CGAGTTCTGACAAGAACGTAA 0.567000 """D, Mis, N, F, S""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 7 143 0.0381472 0.039867 1 1 0 RABGAP1 23637 broad.mit.edu 37 9 125860076 125860076 + Missense_Mutation SNP G G C TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr9:125860076G>C ENST00000373647.4 + 22 2819 c.2685G>C c.(2683-2685)ttG>ttC p.L895F RABGAP1_ENST00000373643.5_Missense_Mutation_p.L234F NM_012197.3 NP_036329.3 Q9Y3P9 RBGP1_HUMAN RAB GTPase activating protein 1 895 cell cycle centrosome|cytosol|microtubule associated complex Rab GTPase activator activity|tubulin binding breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1) 41 AACAGAAGTTGATTGATGCAG 0.443000 8 52 0 0 1 0 0 RAB6B 51560 broad.mit.edu 37 3 133557037 133557037 + Missense_Mutation SNP A A T TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr3:133557037A>T ENST00000285208.4 - 6 817 c.468T>A c.(466-468)agT>agA p.S156R RAB6B_ENST00000543906.1_Missense_Mutation_p.S156R|RAB6B_ENST00000486858.1_Missense_Mutation_p.S143R|RAB6B_ENST00000469959.1_Intron NM_016577.3 NP_057661.3 Q9NRW1 RAB6B_HUMAN RAB6B, member RAS oncogene family 156 protein transport|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction cytoplasmic membrane-bounded vesicle|Golgi membrane GTP binding|GTPase activity|protein binding NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1) 11 CAGTCTTCGCACTGGTCTCAA 0.617000 13 191 0 0 1 0 0 PER3 8863 broad.mit.edu 37 1 7887578 7887579 + Frame_Shift_Ins INS - - G rs228697 byFrequency TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr1:7887578_7887579insG ENST00000377532.3 + 17 2813_2814 c.2589_2590insG c.(2587-2592)ccctgtfs p.C864fs PER3_ENST00000361923.2_Frame_Shift_Ins_p.C856fs P56645 PER3_HUMAN period circadian clock 3 856 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus signal transducer activity breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 39 Ovarian(185;0.0634)|all_lung(157;0.178) all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649) TGCCTGACCCCCCTGTCTGTCC 0.545 25 240 --- --- --- --- AC073321.4 0 broad.mit.edu 37 2 217475032 217475032 + RNA DEL A A - rs71401156 TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr2:217475032delA ENST00000441803.1 + 0 195 ATTTTATTTCAAAAAAAAAAA 0.373 3 5 --- --- --- --- GABBR1 2550 broad.mit.edu 37 6 29573436 29573438 + In_Frame_Del DEL CAG CAG - TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr6:29573436_29573438delCAG ENST00000377034.4 - 20 2682_2684 c.2347_2349delCTG c.(2347-2349)del p.L783del GABBR1_ENST00000377016.4_In_Frame_Del_p.L721del|GABBR1_ENST00000376977.3_3'UTR|GABBR1_ENST00000355973.3_In_Frame_Del_p.L666del|GABBR1_ENST00000377012.4_In_Frame_Del_p.L666del NM_001470.2 NP_001461.1 Q9UBS5 GABR1_HUMAN gamma-aminobutyric acid (GABA) B receptor, 1 783 gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane G-protein coupled receptor activity|GABA-B receptor activity p.L783M(1) endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Baclofen(DB00181)|Progabide(DB00837) GGAAGATTCCCAGCAGCAGCAGC 0.512 7 89 --- --- --- --- SSPO 23145 broad.mit.edu 37 7 149518533 149518533 + RNA DEL C C - rs11353848 TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr7:149518533delC ENST00000378016.2 + 0 12602 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) GAGGAGCAGTCCCAGAGCCAG 0.711 2 4 --- --- --- --- XKR5 389610 broad.mit.edu 37 8 6673269 6673270 + RNA INS - - A rs112269595 TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr8:6673269_6673270insA ENST00000518724.1 - 0 1071 Q6UX68 XKR5_HUMAN XK, Kell blood group complex subunit-related family, member 5 integral to membrane endometrium(1)|large_intestine(1)|lung(1) 3 STAD - Stomach adenocarcinoma(24;0.0984) READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166) GAGCCCATTGTAAAAAAAAAAA 0.505 OREG0018511 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 3 --- --- --- --- ZFHX4 79776 broad.mit.edu 37 8 77768487 77768488 + Frame_Shift_Ins INS - - A TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr8:77768487_77768488insA ENST00000521891.2 + 10 9778_9779 c.9330_9331insA c.(9328-9333)ccgaatfs p.N3111fs ZFHX4_ENST00000455469.2_Frame_Shift_Ins_p.N3066fs|ZFHX4_ENST00000050961.6_Frame_Shift_Ins_p.N3066fs|ZFHX4_ENST00000518282.1_Frame_Shift_Ins_p.N3085fs NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 3066 Pro-rich. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.P3094P(1) NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) TCCTTCTCCCCGGAATGAACGG 0.525 HNSCC(33;0.089) 19 81 --- --- --- --- MT1G 4495 broad.mit.edu 37 16 56700870 56700870 + Frame_Shift_Del DEL C C - TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr16:56700870delC ENST00000444837.2 - 3 178 c.107delG c.(106-108)tcfs p.C37fs MT1G_ENST00000379811.3_Frame_Shift_Del_p.C38fs|MT1G_ENST00000568675.1_3'UTR|MT1G_ENST00000569500.1_Frame_Shift_Del_p.C15fs NM_005950.1 NP_005941.1 P13640 MT1G_HUMAN metallothionein 1G 38 Alpha. metal ion binding|protein binding kidney(2)|large_intestine(1)|lung(2) 5 CACAGGGCAGCAGGAGCAGCA 0.632 11 176 --- --- --- --- SLC47A2 146802 broad.mit.edu 37 17 19611118 19611119 + Frame_Shift_Del DEL TG TG - TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx b19784a3-e8f2-4083-b210-837a8a82a232 0b080b7d-3d53-4264-baa2-5a3b9d727306 g.chr17:19611118_19611119delTG ENST00000350657.5 - 8 841_842 c.667_668delCA c.(667-669)gfs p.Q223fs SLC47A2_ENST00000325411.5_Frame_Shift_Del_p.Q259fs|SLC47A2_ENST00000463318.1_5'UTR NM_001099646.1|NM_001256663.1 NP_001093116.1|NP_001243592.1 Q86VL8 S47A2_HUMAN solute carrier family 47 (multidrug and toxin extrusion), member 2 259 integral to membrane|plasma membrane drug:hydrogen antiporter activity endometrium(2)|kidney(3)|large_intestine(2)|lung(1)|ovary(1) 9 all_cancers(12;2.3e-05)|all_epithelial(12;0.0024)|Breast(13;0.245) GAAGACGGTCTGTGCAAACTGG 0.619 2 4 --- --- --- ---