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 WSCD1 23302 broad.mit.edu 37 17 6014093 6014093 + Missense_Mutation SNP A A T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr17:6014093A>T ENST00000574946.1 + 7 1402 c.1012A>T c.(1012-1014)Act>Tct p.T338S WSCD1_ENST00000573634.1_Missense_Mutation_p.T222S|WSCD1_ENST00000317744.5_Missense_Mutation_p.T338S|WSCD1_ENST00000574232.1_Missense_Mutation_p.T338S|WSCD1_ENST00000539421.1_Missense_Mutation_p.T338S Q658N2 WSCD1_HUMAN WSC domain containing 1 338 WSC 2. integral to membrane sulfotransferase activity breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1) 35 ACTTTCAGACACTCGTTGTAC 0.488000 93 250 0 0 1 0 0 PEAR1 375033 broad.mit.edu 37 1 156879582 156879582 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:156879582G>A ENST00000338302.3 + 13 1676 c.1451G>A c.(1450-1452)gGa>gAa p.G484E PEAR1_ENST00000292357.7_Missense_Mutation_p.G484E Q5VY43 PEAR1_HUMAN platelet endothelial aggregation receptor 1 484 integral to membrane p.G484E(1) 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) TGCCCACCCGGAACCTGGGGC 0.627000 17 69 0 0 1 0 0 ZNF260 339324 broad.mit.edu 37 19 37004998 37004998 + Silent SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr19:37004998G>A ENST00000523638.1 - 3 2264 c.1143C>T c.(1141-1143)atC>atT p.I381I ZNF260_ENST00000588993.1_Silent_p.I381I|ZNF260_ENST00000593142.1_Silent_p.I381I|ZNF260_ENST00000592282.1_Silent_p.I381I NM_001166036.1|NM_001166037.1|NM_001166038.1 NP_001159508.1|NP_001159509.1|NP_001159510.1 Q3ZCT1 ZN260_HUMAN zinc finger protein 260 381 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8) 15 Esophageal squamous(110;0.162) CACCAGTATGGATTCTCATGT 0.408000 22 91 0 0 1 0 0 CASP7 840 broad.mit.edu 37 10 115489079 115489079 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr10:115489079C>T ENST00000369321.2 + 8 1111 c.791C>T c.(790-792)tCg>tTg p.S264L CASP7_ENST00000369315.1_Missense_Mutation_p.S231L|CASP7_ENST00000345633.4_Missense_Mutation_p.S231L|CASP7_ENST00000452490.2_Missense_Mutation_p.S206L|CASP7_ENST00000369318.3_Missense_Mutation_p.S231L|CASP7_ENST00000369331.4_Missense_Mutation_p.R220C NM_033338.5 NP_203124.1 P55210 CASP7_HUMAN caspase 7, apoptosis-related cysteine peptidase 231 activation of caspase activity by cytochrome c|cellular component disassembly involved in apoptosis|induction of apoptosis by intracellular signals|proteolysis cytosol|endoplasmic reticulum membrane|mitochondrial membrane|nucleoplasm cysteine-type endopeptidase activity|protein binding kidney(1)|large_intestine(1)|lung(5)|ovary(1) 8 Colorectal(252;0.0946)|Breast(234;0.188) Epithelial(162;0.012)|all cancers(201;0.014) GGCTATTACTCGTGGAGGAGC 0.507000 39 55 0 0 1 0 0 ACSBG2 81616 broad.mit.edu 37 19 6182826 6182826 + Missense_Mutation SNP G G T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr19:6182826G>T ENST00000588304.1 + 9 1267 c.821G>T c.(820-822)tGg>tTg p.W274L ACSBG2_ENST00000588485.1_Missense_Mutation_p.W137L|ACSBG2_ENST00000252669.5_Missense_Mutation_p.W324L|ACSBG2_ENST00000591741.1_3'UTR|ACSBG2_ENST00000586696.1_Missense_Mutation_p.W324L|ACSBG2_ENST00000591403.1_Missense_Mutation_p.W324L Q5FVE4 ACBG2_HUMAN acyl-CoA synthetase bubblegum family member 2 324 cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis membrane|microsome|mitochondrion acyl-CoA thioesterase activity|ATP binding|long-chain fatty acid-CoA ligase activity breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 CCTCAAATTTGGGAGAAGATA 0.463000 12 38 0.000151284 0.000152133 1 1 0 MUC16 94025 broad.mit.edu 37 19 9069347 9069347 + Silent SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr19:9069347G>A ENST00000397910.4 - 3 18302 c.18099C>T c.(18097-18099)tcC>tcT p.S6033S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 6035 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 CGGATGGCTGGGAGTGGATTG 0.438000 39 123 0 0 1 0 0 NINL 22981 broad.mit.edu 37 20 25456969 25456969 + Nonsense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr20:25456969C>T ENST00000278886.6 - 17 3031 c.2958G>A c.(2956-2958)tgG>tgA p.W986* NINL_ENST00000422516.1_Intron NM_025176.4 NP_079452.3 Q9Y2I6 NINL_HUMAN ninein-like 986 G2/M transition of mitotic cell cycle cytosol|microtubule|microtubule organizing center calcium ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 57 TGCCCCTGCTCCAGCTTCGTG 0.692000 33 65 0 0 1 0 0 PREX2 80243 broad.mit.edu 37 8 68942864 68942864 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr8:68942864G>A ENST00000288368.4 + 6 953 c.676G>A c.(676-678)Gaa>Aaa p.E226K PREX2_ENST00000529398.1_3'UTR NM_024870.2|NM_025170.4 NP_079146.2|NP_079446.3 Q70Z35 PREX2_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 226 G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2) 178 AGTTTTAGAGGAATGGCAGTC 0.458000 14 123 0 0 1 0 0 SERTAD4 56256 broad.mit.edu 37 1 210411442 210411442 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:210411442C>T ENST00000367012.3 + 2 367 c.137C>T c.(136-138)cCt>cTt p.P46L SERTAD4_ENST00000490620.1_3'UTR NM_019605.3 NP_062551.1 Q9NUC0 SRTD4_HUMAN SERTA domain containing 4 46 protein binding endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127) GCACAAGCTCCTTTGCAGGGA 0.642000 40 56 0 0 1 0 0 C10orf111 221060 broad.mit.edu 37 10 15138530 15138530 + Silent SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr10:15138530C>T ENST00000378207.3 - 2 567 c.294G>A c.(292-294)ttG>ttA p.L98L NM_153244.1 NP_694976.1 Q8N326 CJ111_HUMAN chromosome 10 open reading frame 111 98 integral to membrane lung(5)|upper_aerodigestive_tract(1) 6 AAGGGTAGATCAACAGATCCA 0.527000 20 62 0 0 1 0 0 ADAM30 11085 broad.mit.edu 37 1 120437169 120437169 + Silent SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:120437169G>A ENST00000369400.1 - 1 1949 c.1791C>T c.(1789-1791)ccC>ccT p.P597P NM_021794.3 NP_068566.2 Q9UKF2 ADA30_HUMAN ADAM metallopeptidase domain 30 597 Cys-rich. proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2) 38 all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234) all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138) Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117) GTATTCCCATGGGTTTCATGG 0.443000 16 127 0 0 1 0 0 EPHA1 2041 broad.mit.edu 37 7 143098546 143098546 + Silent SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr7:143098546G>A ENST00000275815.3 - 3 389 c.303C>T c.(301-303)ttC>ttT p.F101F NM_005232.4 NP_005223.4 P21709 EPHA1_HUMAN EPH receptor A1 101 integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3) 51 Melanoma(164;0.205) Myeloproliferative disorder(862;0.0255) CCCGCACGGTGAACTGCAGCT 0.612000 80 184 0 0 1 0 0 TACR3 6870 broad.mit.edu 37 4 104640335 104640335 + Silent SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr4:104640335G>A ENST00000304883.2 - 1 638 c.498C>T c.(496-498)atC>atT p.I166I NM_001059.2 NP_001050.1 P29371 NK3R_HUMAN tachykinin receptor 3 166 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) ACACAGCTGTGATAGGAAAGA 0.522000 17 39 0 0 1 0 0 BOD1L1 259282 broad.mit.edu 37 4 13602715 13602715 + Missense_Mutation SNP T T A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr4:13602715T>A ENST00000040738.5 - 10 5944 c.5809A>T c.(5809-5811)Aca>Tca p.T1937S NM_148894.2 NP_683692.2 Q8NFC6 BOD1L_HUMAN biorientation of chromosomes in cell division 1-like 1 1937 DNA binding CCTTTCTCTGTGCCACTCATG 0.468000 18 57 0 0 1 0 0 TMEM99 147184 broad.mit.edu 37 17 38990881 38990881 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr17:38990881C>T ENST00000301665.3 + 3 417 c.113C>T c.(112-114)tCa>tTa p.S38L NM_001195386.1|NM_001195387.1|NM_145274.3 NP_001182315.1|NP_001182316.1|NP_660317.2 Q8N816 TMM99_HUMAN transmembrane protein 99 38 integral to membrane p.S38L(1) cervix(1)|large_intestine(1)|lung(5)|skin(2)|urinary_tract(1) 10 Breast(137;0.000301) GTTCCTCATTCAGCTGGTCAC 0.522000 33 100 0 0 1 0 0 ZNF564 163050 broad.mit.edu 37 19 12638571 12638571 + Silent SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr19:12638571G>A ENST00000339282.7 - 4 547 c.351C>T c.(349-351)tcC>tcT p.S117S CTD-2192J16.20_ENST00000593682.1_3'UTR|ZNF709_ENST00000428311.1_Intron NM_144976.3 NP_659413.1 zinc finger protein 564 endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 18 GCCTACTAAGGGATGAATGAT 0.383000 25 65 0 0 1 0 0 OR10X1 128367 broad.mit.edu 37 1 158549503 158549503 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:158549503C>T ENST00000368150.1 - 1 186 c.187G>A c.(187-189)Ggt>Agt p.G63S NM_001004477.1 NP_001004477.1 Q8NGY0 O10X1_HUMAN olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene) 63 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1) 37 all_hematologic(112;0.0378) CAAGTTAGACCCATGATGATC 0.473000 69 79 0 0 1 0 0 SEPT10 151011 broad.mit.edu 37 2 110322028 110322028 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr2:110322028G>A ENST00000356688.4 - 8 1258 c.943C>T c.(943-945)Cat>Tat p.H315Y SEPT10_ENST00000468616.1_5'UTR|SEPT10_ENST00000545389.1_Missense_Mutation_p.H148Y|SEPT10_ENST00000415095.1_Missense_Mutation_p.H315Y|SEPT10_ENST00000397712.2_Missense_Mutation_p.H315Y|SEPT10_ENST00000397714.2_Missense_Mutation_p.H292Y|SEPT10_ENST00000437928.1_Missense_Mutation_p.H300Y|SEPT10_ENST00000334001.6_Missense_Mutation_p.H182Y Q9P0V9 SEP10_HUMAN septin 10 315 cell cycle|cell division septin complex GTP binding breast(2)|endometrium(3)|large_intestine(4)|lung(8)|prostate(1) 18 TGCCTGGTATGGGTCTGCTCT 0.468000 42 65 0 0 1 0 0 UNC79 57578 broad.mit.edu 37 14 94083625 94083625 + Missense_Mutation SNP A A G TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr14:94083625A>G ENST00000553484.1 + 29 4419 c.4265A>G c.(4264-4266)aAg>aGg p.K1422R UNC79_ENST00000393151.2_Missense_Mutation_p.K1400R|UNC79_ENST00000256339.4_Missense_Mutation_p.K1223R|UNC79_ENST00000555664.1_Missense_Mutation_p.K1400R Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) 1400 integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 ATGTGGTTGAAGGCCTTGCTT 0.498000 9 67 0 0 1 0 0 DCAF4L2 138009 broad.mit.edu 37 8 88885163 88885163 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr8:88885163C>T ENST00000319675.3 - 1 1133 c.1037G>A c.(1036-1038)gGc>gAc p.G346D NM_152418.3 NP_689631.1 Q8NA75 DC4L2_HUMAN DDB1 and CUL4 associated factor 4-like 2 346 breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 83 GAGCAGGTGGCCATGACGGAG 0.607000 59 48 0 0 1 0 0 CHRNB1 1140 broad.mit.edu 37 17 7351964 7351964 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr17:7351964G>A ENST00000306071.2 + 7 744 c.677G>A c.(676-678)gGa>gAa p.G226E CHRNB1_ENST00000576360.1_Missense_Mutation_p.G154E|CHRNB1_ENST00000536404.2_Missense_Mutation_p.G154E NM_000747.2 NP_000738.2 P11230 ACHB_HUMAN cholinergic receptor, nicotinic, beta 1 (muscle) 226 behavioral response to nicotine|muscle contraction|muscle fiber development|neuromuscular synaptic transmission|postsynaptic membrane organization|regulation of membrane potential|synaptic transmission, cholinergic cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine binding|receptor activity NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(3) 23 Prostate(122;0.157) GATCCTAGGGGAGGGAGGGAA 0.567000 20 41 0 0 1 0 0 TC2N 123036 broad.mit.edu 37 14 92251638 92251638 + Silent SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr14:92251638C>T ENST00000435962.2 - 11 1553 c.1230G>A c.(1228-1230)ctG>ctA p.L410L TC2N_ENST00000340892.5_Silent_p.L410L|TC2N_ENST00000556018.1_Silent_p.L346L|TC2N_ENST00000360594.5_Silent_p.L410L NM_001128596.1 NP_001122068.1 Q8N9U0 TAC2N_HUMAN tandem C2 domains, nuclear 410 C2. nucleus breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2) 18 COAD - Colon adenocarcinoma(157;0.218) TGGAGGCCTTCAGTAAGCGTG 0.343000 71 220 0 0 1 0 0 KCNC2 3747 broad.mit.edu 37 12 75444290 75444290 + Missense_Mutation SNP G G T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr12:75444290G>T ENST00000549446.1 - 3 2175 c.1495C>A c.(1495-1497)Cct>Act p.P499T KCNC2_ENST00000540018.1_Missense_Mutation_p.P499T|KCNC2_ENST00000393288.2_Missense_Mutation_p.P499T|KCNC2_ENST00000341669.3_Missense_Mutation_p.P499T|KCNC2_ENST00000550433.1_Missense_Mutation_p.P499T|KCNC2_ENST00000350228.2_Missense_Mutation_p.P499T|KCNC2_ENST00000548243.1_5'UTR|KCNC2_ENST00000298972.1_Missense_Mutation_p.P499T|KCNC2_ENST00000548513.1_Missense_Mutation_p.P499T NM_001260497.1|NM_139137.3 NP_001247426.1|NP_631875.1 Q96PR1 KCNC2_HUMAN potassium voltage-gated channel, Shaw-related subfamily, member 2 499 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 TGAGGAGCAGGAGGGATGTGC 0.443000 11 69 3.86212e-05 3.91012e-05 1 1 0 SYT2 127833 broad.mit.edu 37 1 202572213 202572213 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:202572213C>T ENST00000367267.1 - 4 571 c.379G>A c.(379-381)Ggg>Agg p.G127R SYT2_ENST00000367268.4_Missense_Mutation_p.G127R NM_001136504.1 NP_001129976.1 Q8N9I0 SYT2_HUMAN synaptotagmin II 127 neurotransmitter secretion cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane protein binding|transporter activity NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1) 29 BRCA - Breast invasive adenocarcinoma(75;0.169) Botulinum Toxin Type B(DB00042) TCACCTTCCCCCTCAGTCAGG 0.552000 34 120 0 0 1 0 0 THBS2 7058 broad.mit.edu 37 6 169648776 169648776 + Silent SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr6:169648776G>A ENST00000366787.3 - 4 594 c.345C>T c.(343-345)atC>atT p.I115I NM_003247.2 NP_003238.2 P35442 TSP2_HUMAN thrombospondin 2 115 Heparin-binding (Potential).|TSP N-terminal. cell adhesion extracellular region calcium ion binding|heparin binding|protein binding|structural molecule activity p.I115I(1) NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 111 Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247) OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379) CGTTGGAGACGATCTCGAACT 0.657000 28 38 0 0 1 0 0 ADCYAP1R1 117 broad.mit.edu 37 7 31144519 31144519 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr7:31144519G>A ENST00000304166.4 + 15 1503 c.1214G>A c.(1213-1215)gGt>gAt p.G405D ADCYAP1R1_ENST00000409363.1_Missense_Mutation_p.G384D|ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.G433D|ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.G461D NM_001118.4|NM_001199635.1|NM_001199636.1 NP_001109.2|NP_001186564.1|NP_001186565.1 P41586 PACR_HUMAN adenylate cyclase activating polypeptide 1 (pituitary) receptor type I 405 activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis integral to plasma membrane vasoactive intestinal polypeptide receptor activity endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1) 35 TTTCTGAATGGTGAGGTAAGA 0.522000 102 205 0 0 1 0 0 WNT2B 7482 broad.mit.edu 37 1 113063098 113063098 + Silent SNP C C T rs145437043 TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:113063098C>T ENST00000369684.4 + 5 1628 c.1143C>T c.(1141-1143)gcC>gcT p.A381A WNT2B_ENST00000369686.4_Silent_p.A362A|WNT2B_ENST00000256640.5_Silent_p.A289A NM_024494.2 NP_078613.1 Q93097 WNT2B_HUMAN wingless-type MMTV integration site family, member 2B 381 chondrocyte differentiation|cornea development in camera-type eye|dorsal/ventral axis specification|forebrain regionalization|hemopoietic stem cell proliferation|iris morphogenesis|lens development in camera-type eye|lung induction|male gonad development|neuron differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix frizzled-2 binding|signal transducer activity breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|stomach(1) 18 Lung SC(450;0.246) all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05) Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) CTTGCAAAGCCCCCAAGAAGG 0.502000 8 20 0 0 1 0 0 SHH 6469 broad.mit.edu 37 7 155598993 155598993 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr7:155598993C>T ENST00000297261.2 - 2 709 c.559G>A c.(559-561)Gca>Aca p.A187T NM_000193.2 NP_000184.1 Q15465 SHH_HUMAN sonic hedgehog 187 androgen metabolic process|axon guidance|branching involved in ureteric bud morphogenesis|CD4-positive or CD8-positive, alpha-beta T cell lineage commitment|embryonic digit morphogenesis|hindbrain development|intein-mediated protein splicing|lymphoid progenitor cell differentiation|metanephric mesenchymal cell proliferation involved in metanephros development|midbrain development|negative regulation of cell migration|negative regulation of kidney smooth muscle cell differentiation|negative regulation of ureter smooth muscle cell differentiation|negative thymic T cell selection|neural crest cell migration|neuroblast proliferation|patterning of blood vessels|positive regulation of alpha-beta T cell differentiation|positive regulation of immature T cell proliferation in thymus|positive regulation of kidney smooth muscle cell differentiation|positive regulation of mesenchymal cell proliferation involved in ureter development|positive regulation of T cell differentiation in thymus|positive regulation of ureter smooth muscle cell differentiation|positive thymic T cell selection|proteolysis|sclerotome development|stem cell development|thymus development|vasculogenesis|ventral midline development cell surface|extracellular space|membrane raft|plasma membrane calcium ion binding|laminin-1 binding|peptidase activity|signal transducer activity|zinc ion binding central_nervous_system(3)|kidney(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 14 all_neural(206;0.101) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.00882) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) AGCTTACCTGCTTTCACCGAG 0.627000 20 100 0 0 1 0 0 HERPUD2 64224 broad.mit.edu 37 7 35707199 35707199 + Splice_Site SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr7:35707199C>T ENST00000396081.1 - 4 1144 c.e4-1 HERPUD2_ENST00000311350.3_Splice_Site|HERPUD2_ENST00000426180.1_Splice_Site NM_022373.4 NP_071768.3 Q9BSE4 HERP2_HUMAN HERPUD family member 2 response to unfolded protein integral to membrane kidney(3)|large_intestine(5)|lung(6)|ovary(3)|prostate(1) 18 GATCTGAACTCTACAAATAAA 0.358000 6 72 0 0 1 0 0 C8orf34 116328 broad.mit.edu 37 8 69633608 69633608 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr8:69633608G>A ENST00000337103.4 + 9 2599 c.1007G>A c.(1006-1008)gGg>gAg p.G336E C8orf34_ENST00000539993.1_Missense_Mutation_p.G361E|C8orf34_ENST00000518698.1_Missense_Mutation_p.G447E|C8orf34_ENST00000325233.3_Missense_Mutation_p.G105E Q49A92 CH034_HUMAN chromosome 8 open reading frame 34 361 signal transduction cAMP-dependent protein kinase regulator activity NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 36 Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502) TCCTTGCCTGGGACTGAAGAA 0.294000 7 52 0 0 1 0 0 SPTBN5 51332 broad.mit.edu 37 15 42160643 42160643 + Nonsense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr15:42160643G>A ENST00000320955.6 - 33 6237 c.6010C>T c.(6010-6012)Cag>Tag p.Q2004* NM_016642.2 NP_057726.4 Q9NRC6 SPTN5_HUMAN spectrin, beta, non-erythrocytic 5 2004 actin cytoskeleton organization|actin filament capping|axon guidance cytosol|membrane|spectrin NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 62 all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908) TGCCCCAGCTGGGTGGCCTGC 0.682000 5 25 0 0 1 0 0 SNTG2 54221 broad.mit.edu 37 2 1243537 1243537 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr2:1243537C>T ENST00000308624.5 + 11 1006 c.877C>T c.(877-879)Cct>Tct p.P293S SNTG2_ENST00000407292.1_Missense_Mutation_p.P166S NM_018968.3 NP_061841.2 Q9NY99 SNTG2_HUMAN syntrophin, gamma 2 293 central nervous system development cytoplasm|cytoskeleton|sarcolemma|syntrophin complex actin binding|PDZ domain binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.00469) all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173) ATGCTGCTCTCCTTCCGACCA 0.478000 9 10 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 215955511 215955511 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:215955511C>T ENST00000366943.2 - 54 10999 c.10613G>A c.(10612-10614)cGa>cAa p.R3538Q USH2A_ENST00000307340.3_Missense_Mutation_p.R3538Q O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 3538 Fibronectin type-III 20. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) AATTCCATTTCGAAGAAGGAT 0.348000 HNSCC(13;0.011) 5 40 0 0 1 0 0 SCUBE1 80274 broad.mit.edu 37 22 43616546 43616546 + Nonsense_Mutation SNP T T A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr22:43616546T>A ENST00000360835.3 - 14 1723 c.1597A>T c.(1597-1599)Aag>Tag p.K533* NM_173050.3 NP_766638.2 Q8IWY4 SCUB1_HUMAN signal peptide, CUB domain, EGF-like 1 533 adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization external side of plasma membrane|extracellular space|extrinsic to plasma membrane calcium ion binding|identical protein binding|protein heterodimerization activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_neural(38;0.0414)|Ovarian(80;0.07) CGGCGCCTCTTCTTGGAGGAG 0.582000 20 182 0 0 1 0 0 RTEL1 51750 broad.mit.edu 37 20 62292767 62292767 + Silent SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr20:62292767C>T ENST00000318100.4 + 3 1046 c.219C>T c.(217-219)gcC>gcT p.A73A RTEL1_ENST00000488316.1_3'UTR|RTEL1-TNFRSF6B_ENST00000482936.1_Silent_p.A73A|RTEL1_ENST00000508582.2_Silent_p.A73A|RTEL1_ENST00000360203.5_Silent_p.A73A|RTEL1_ENST00000370018.3_Silent_p.A73A Q9NZ71 RTEL1_HUMAN regulator of telomere elongation helicase 1 73 Helicase ATP-binding. DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13) Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107) GCAAGATTGCCGAGAGGGCGC 0.637000 24 50 0 0 1 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37506687 37506687 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr10:37506687G>A ENST00000374660.1 + 39 3436 c.3337G>A c.(3337-3339)Gaa>Aaa p.E1113K ANKRD30A_ENST00000361713.1_Missense_Mutation_p.E994K|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.E994K Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 1100 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 AAAAATTAGGGAAGAATTAGG 0.318000 14 37 0 0 1 0 0 CPM 1368 broad.mit.edu 37 12 69250346 69250346 + Missense_Mutation SNP A A C TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr12:69250346A>C ENST00000551568.1 - 9 1263 c.1203T>G c.(1201-1203)gaT>gaG p.D401E CPM_ENST00000546373.1_Missense_Mutation_p.D401E|CPM_ENST00000338356.3_Missense_Mutation_p.D401E NM_001005502.2|NM_198320.3 NP_001005502.1|NP_938079.1 P14384 CBPM_HUMAN carboxypeptidase M 401 anatomical structure morphogenesis|proteolysis anchored to membrane|cytoplasm|nucleus|plasma membrane metallocarboxypeptidase activity|zinc ion binding large_intestine(1)|lung(6)|prostate(2) 9 all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06) all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143) CTGGGATAGAATCCAATTGCC 0.398000 51 80 0 0 1 0 0 SPICE1 152185 broad.mit.edu 37 3 113169284 113169284 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr3:113169284G>A ENST00000295872.4 - 15 2481 c.2222C>T c.(2221-2223)gCt>gTt p.A741V NM_144718.3 NP_653319.1 Q8N0Z3 SPICE_HUMAN spindle and centriole associated protein 1 741 cell division|mitosis centriole|spindle protein binding NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1) 33 TTTTCCACGAGCCTCCATACT 0.423000 40 55 0 0 1 0 0 SCN10A 6336 broad.mit.edu 37 3 38812783 38812783 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr3:38812783C>T ENST00000449082.2 - 4 585 c.586G>A c.(586-588)Gtc>Atc p.V196I NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 196 sensory perception voltage-gated sodium channel complex p.V196I(1) NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) AGGGTAATGACGCTAAAATCC 0.458000 18 98 0 0 1 0 0 CAPZA3 93661 broad.mit.edu 37 12 18891655 18891655 + Silent SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr12:18891655G>A ENST00000317658.3 + 1 611 c.453G>A c.(451-453)ttG>ttA p.L151L NM_033328.2 NP_201585.1 Q96KX2 CAZA3_HUMAN capping protein (actin filament) muscle Z-line, alpha 3 151 actin cytoskeleton organization|actin filament capping F-actin capping protein complex actin binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1) 19 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241) Hepatocellular(102;0.194) AGGAGTACTTGATAGCTTGCA 0.388000 10 65 0 0 1 0 0 WWC1 23286 broad.mit.edu 37 5 167882494 167882494 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr5:167882494C>T ENST00000265293.4 + 19 3294 c.2792C>T c.(2791-2793)tCc>tTc p.S931F WWC1_ENST00000521089.1_Missense_Mutation_p.S931F|WWC1_ENST00000522140.1_3'UTR NM_001161661.1|NM_001161662.1|NM_015238.2 NP_001155133.1|NP_001155134.1|NP_056053.1 Q8IX03 KIBRA_HUMAN WW and C2 domain containing 1 931 Interaction with histone H3. cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perinuclear region of cytoplasm|ruffle membrane protein binding|transcription coactivator activity breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4) 43 Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166) Medulloblastoma(196;0.0399)|all_neural(177;0.0577) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918) AAGACCTTCTCCCCAGGACCC 0.642000 25 151 0 0 1 0 0 PASK 23178 broad.mit.edu 37 2 242062183 242062183 + Silent SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr2:242062183G>A ENST00000403638.3 - 12 3127 c.3036C>T c.(3034-3036)ttC>ttT p.F1012F PASK_ENST00000358649.4_Silent_p.F1012F|PASK_ENST00000539818.1_Silent_p.F796F|PASK_ENST00000405260.1_Silent_p.F1012F|PASK_ENST00000544142.1_Silent_p.F826F|PASK_ENST00000234040.4_Silent_p.F1012F NM_001252124.1 NP_001239053.1 Q96RG2 PASK_HUMAN PAS domain containing serine/threonine kinase 1012 Protein kinase. regulation of transcription, DNA-dependent Golgi apparatus ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2) 53 all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968) CAGTCCACACGAAGCCGAAGG 0.612000 36 93 0 0 1 0 0 GDF15 9518 broad.mit.edu 37 19 18499390 18499390 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr19:18499390G>A ENST00000595973.1 + 3 1123 c.572G>A c.(571-573)gGg>gAg p.G191E GDF15_ENST00000252809.3_Missense_Mutation_p.G191E Q99988 GDF15_HUMAN growth differentiation factor 15 191 cell-cell signaling|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity kidney(2)|large_intestine(1)|liver(1)|lung(5)|prostate(2)|skin(1) 12 GCCGCCAGGGGGCGCCGCAGA 0.731000 OREG0025363 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 15 0 0 1 0 0 TBX10 347853 broad.mit.edu 37 11 67399796 67399796 + Silent SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr11:67399796C>T ENST00000335385.3 - 7 948 c.861G>A c.(859-861)agG>agA p.R287R NM_005995.4 NP_005986.2 O75333 TBX10_HUMAN T-box 10 287 anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|lung(4)|ovary(1) 7 TACCTTTCTCCCTGTCTGTGG 0.622000 17 106 0 0 1 0 0 CHD8 57680 broad.mit.edu 37 14 21897468 21897468 + Silent SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr14:21897468G>A ENST00000399982.2 - 2 934 c.870C>T c.(868-870)gtC>gtT p.V290V CHD8_ENST00000430710.3_Silent_p.V11V|CHD8_ENST00000557364.1_Silent_p.V290V|CHD8_ENST00000555962.1_Intron NM_001170629.1 NP_001164100.1 Q9HCK8 CHD8_HUMAN chromodomain helicase DNA binding protein 8 290 ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent MLL1 complex ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 85 all_cancers(95;0.00121) Epithelial(56;2.55e-06)|all cancers(55;1.73e-05) GBM - Glioblastoma multiforme(265;0.00424) GCTGCTGGAGGACCAGGGTGA 0.478000 5 37 0 0 1 0 0 ASPN 54829 broad.mit.edu 37 9 95219762 95219762 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr9:95219762G>A ENST00000375543.1 - 6 961 c.718C>T c.(718-720)Ctt>Ttt p.L240F ASPN_ENST00000375544.3_Silent_p.I317I|CENPP_ENST00000375587.3_Intron NM_001193335.1 NP_001180264.1 Q9BXN1 ASPN_HUMAN asporin 240 GLPPTL -> DNLPSF (in Ref. 3; BAB55060). bone mineralization|negative regulation of tooth mineralization|negative regulation of transforming growth factor beta receptor signaling pathway proteinaceous extracellular matrix calcium ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1) 9 AATGAAGGAAGATTATCTGTT 0.338000 5 30 0 0 1 0 0 DLGAP4 22839 broad.mit.edu 37 20 35060148 35060148 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr20:35060148C>T ENST00000373913.3 + 3 508 c.28C>T c.(28-30)Cgc>Tgc p.R10C DLGAP4_ENST00000339266.5_Missense_Mutation_p.R10C|DLGAP4_ENST00000373907.2_Missense_Mutation_p.R10C|DLGAP4_ENST00000401952.2_Missense_Mutation_p.R10C Q9Y2H0 DLGP4_HUMAN discs, large (Drosophila) homolog-associated protein 4 10 cell-cell signaling membrane protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 37 Breast(12;0.0192) Myeloproliferative disorder(115;0.00878) CAGCCGCCCCCGCCACCTCTC 0.716000 23 44 0 0 1 0 0 KIAA0753 9851 broad.mit.edu 37 17 6493230 6493230 + Silent SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr17:6493230G>A ENST00000361413.3 - 18 3013 c.2655C>T c.(2653-2655)ggC>ggT p.G885G KIAA0753_ENST00000572370.1_Silent_p.G586G|KIAA0753_ENST00000575027.1_5'UTR|KIAA0753_ENST00000542606.1_Silent_p.G586G|KIAA0753_ENST00000589033.1_Silent_p.G341G NM_014804.2 NP_055619.2 Q2KHM9 K0753_HUMAN KIAA0753 885 centrosome endometrium(4)|large_intestine(11)|lung(5)|prostate(4) 24 COAD - Colon adenocarcinoma(228;0.157) GGGGAGCTCGGCCTTCTTTCT 0.512000 11 48 0 0 1 0 0 DFNB59 494513 broad.mit.edu 37 2 179323290 179323290 + Silent SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr2:179323290C>T ENST00000409117.3 + 5 959 c.603C>T c.(601-603)ttC>ttT p.F201F DFNB59_ENST00000375129.4_Silent_p.F201F|DFNB59_ENST00000605419.1_3'UTR NM_001042702.3 NP_001036167.1 Q0ZLH3 PJVK_HUMAN deafness, autosomal recessive 59 201 sensory perception of sound breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564) CTATTGTTTTCCCAGCACATA 0.343000 26 86 0 0 1 0 0 YAE1D1 57002 broad.mit.edu 37 7 39611933 39611933 + Silent SNP A A T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr7:39611933A>T ENST00000223273.2 + 3 352 c.309A>T c.(307-309)atA>atT p.I103I YAE1D1_ENST00000448268.1_Intron|YAE1D1_ENST00000432096.2_Intron NM_020192.3 NP_064577.1 Q9NRH1 CG036_HUMAN Yae1 domain containing 1 103 TCAATAAAATAAACAATCTTC 0.368000 9 51 0 0 1 0 0 EGF 1950 broad.mit.edu 37 4 110865019 110865019 + Silent SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr4:110865019G>A ENST00000265171.5 + 4 976 c.531G>A c.(529-531)gaG>gaA p.E177E EGF_ENST00000509793.1_Silent_p.E177E|EGF_ENST00000502723.1_3'UTR|EGF_ENST00000503392.1_Silent_p.E177E NM_001178130.1|NM_001963.4 NP_001171601.1|NP_001954.2 P01133 EGF_HUMAN epidermal growth factor 177 angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface integral to membrane|plasma membrane|platelet alpha granule lumen calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Hepatocellular(203;0.0893) OV - Ovarian serous cystadenocarcinoma(123;9.87e-06) Sulindac(DB00605) GGTCTTCAGAGGTGGCTGGAA 0.433000 13 50 0 0 1 0 0 RGS6 9628 broad.mit.edu 37 14 72431523 72431523 + Silent SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr14:72431523C>T ENST00000553530.1 + 2 222 c.15C>T c.(13-15)tcC>tcT p.S5S RGS6_ENST00000355512.6_Silent_p.S5S|RGS6_ENST00000553525.1_Silent_p.S5S|RGS6_ENST00000343854.6_Silent_p.S5S|RGS6_ENST00000556437.1_Silent_p.S5S|RGS6_ENST00000404301.2_Silent_p.S5S|RGS6_ENST00000407322.4_Silent_p.S5S|RGS6_ENST00000402788.2_Silent_p.S5S|RGS6_ENST00000555571.1_Silent_p.S5S|RGS6_ENST00000406236.4_Silent_p.S5S NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5 NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3 P49758 RGS6_HUMAN regulator of G-protein signaling 6 5 G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476) CTCAAGGATCCGGGGATCAAA 0.463000 29 45 0 0 1 0 0 CTNNA3 29119 broad.mit.edu 37 10 68526081 68526081 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr10:68526081C>T ENST00000433211.1 - 9 1396 c.1222G>A c.(1222-1224)Gaa>Aaa p.E408K CTNNA3_ENST00000373744.4_Missense_Mutation_p.E408K|CTNNA3_ENST00000494580.1_5'UTR NM_013266.2 NP_037398.2 Q9UI47 CTNA3_HUMAN catenin (cadherin-associated protein), alpha 3 408 cell-cell adhesion actin cytoskeleton|cytoplasm|fascia adherens cadherin binding|structural molecule activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1) 95 ATTTCCTTTTCCCGGCCATTC 0.433000 19 71 0 0 1 0 0 CD28 940 broad.mit.edu 37 2 204594378 204594378 + Silent SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr2:204594378C>T ENST00000374481.3 + 4 387 c.165C>T c.(163-165)caC>caT p.H55H CD28_ENST00000458610.2_Silent_p.H153H|CD28_ENST00000374478.4_Silent_p.H20H|CD28_ENST00000324106.7_Silent_p.H139H P10747 CD28_HUMAN CD28 molecule 139 Ig-like V-type. cell surface receptor linked signaling pathway|cytokine biosynthetic process|humoral immune response|positive regulation of anti-apoptosis|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation of translation|positive regulation of viral genome replication|regulation of defense response to virus by virus|regulatory T cell differentiation|T cell costimulation|viral reproduction cytosol|external side of plasma membrane|integral to plasma membrane coreceptor activity|protease binding|SH3/SH2 adaptor activity endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 13 CAGGGAAACACCTTTGTCCAA 0.433000 51 100 0 0 1 0 0 DPY19L1 23333 broad.mit.edu 37 7 35013211 35013211 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr7:35013211G>A ENST00000310974.4 - 8 754 c.610C>T c.(610-612)Cgt>Tgt p.R204C DPY19L1_ENST00000462134.2_5'UTR NM_015283.1 NP_056098.1 Q2PZI1 D19L1_HUMAN dpy-19-like 1 (C. elegans) 204 integral to membrane endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4) 31 CACATTACACGGGTACACTGA 0.303000 5 32 0 0 1 0 0 TKTL2 84076 broad.mit.edu 37 4 164393182 164393182 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr4:164393182C>T ENST00000280605.3 - 1 1865 c.1705G>A c.(1705-1707)Gaa>Aaa p.E569K NM_032136.4 NP_115512.3 Q9H0I9 TKTL2_HUMAN transketolase-like 2 569 cytoplasm metal ion binding|transketolase activity breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 70 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) ATGCCACCTTCCCTGTAGTGA 0.532000 45 101 0 0 1 0 0 CYP4F11 57834 broad.mit.edu 37 19 16034682 16034682 + Silent SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr19:16034682G>A ENST00000326742.7 - 6 859 c.858C>T c.(856-858)ttC>ttT p.F286F CYP4F11_ENST00000248041.7_Silent_p.F286F|CYP4F11_ENST00000402119.3_Silent_p.F286F Q9HBI6 CP4FB_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 11 286 inflammatory response|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome aromatase activity|electron carrier activity|heme binding NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3) 25 TGTTCTTGAGGAAATCATCAA 0.532000 48 133 0 0 1 0 0 ZNRF4 148066 broad.mit.edu 37 19 5455650 5455650 + Nonsense_Mutation SNP A A T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr19:5455650A>T ENST00000222033.4 + 1 225 c.148A>T c.(148-150)Aag>Tag p.K50* NM_181710.3 NP_859061.3 Q8WWF5 ZNRF4_HUMAN zinc and ring finger 4 50 integral to membrane zinc ion binding NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 UCEC - Uterine corpus endometrioid carcinoma (162;0.0002) GAGATGCCCAAAGGCCTCATG 0.692000 18 34 0 0 1 0 0 C9orf171 389799 broad.mit.edu 37 9 135447804 135447804 + Silent SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr9:135447804G>A ENST00000343036.2 + 7 918 c.870G>A c.(868-870)acG>acA p.T290T C9orf171_ENST00000393216.2_Silent_p.T254T NM_207417.1 NP_997300.1 Q6ZQR2 CI171_HUMAN chromosome 9 open reading frame 171 290 large_intestine(7)|lung(9)|ovary(4)|prostate(3) 23 CGTTCCCCACGGAGGCCGATC 0.627000 12 75 0 0 1 0 0 ZXDA 7789 broad.mit.edu 37 X 57936125 57936125 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chrX:57936125C>T ENST00000358697.4 - 1 942 c.730G>A c.(730-732)Gag>Aag p.E244K NM_007156.4 NP_009087.1 P98168 ZXDA_HUMAN zinc finger, X-linked, duplicated A 244 positive regulation of transcription, DNA-dependent nucleus C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1) 37 CCCTCCGCCTCCTCCTGGGGC 0.756000 4 12 0 0 1 0 0 BRINP2 57795 broad.mit.edu 37 1 177250615 177250615 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:177250615C>T ENST00000361539.4 + 8 2615 c.2303C>T c.(2302-2304)tCt>tTt p.S768F FAM5B_ENST00000478325.1_3'UTR NM_021165.2 NP_066988.1 Q9C0B6 FAM5B_HUMAN 768 extracellular region breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 94 GCTTTCAATTCTAAGCTGCCA 0.547000 7 89 0 0 1 0 0 TSKS 60385 broad.mit.edu 37 19 50265290 50265290 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr19:50265290G>A ENST00000246801.3 - 2 452 c.370C>T c.(370-372)Ccg>Tcg p.P124S NM_021733.1 NP_068379.1 Q9UJT2 TSKS_HUMAN testis-specific serine kinase substrate 124 protein binding breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3) 38 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145) GCGTCATCCGGATCCCAGGGT 0.632000 40 72 0 0 1 0 0 LINGO2 158038 broad.mit.edu 37 9 27950360 27950360 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr9:27950360G>A ENST00000379992.2 - 6 759 c.310C>T c.(310-312)Ctc>Ttc p.L104F LINGO2_ENST00000308675.3_Missense_Mutation_p.L104F NM_152570.2 NP_689783.1 Q7L985 LIGO2_HUMAN leucine rich repeat and Ig domain containing 2 104 integral to membrane autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 44 Melanoma(11;0.242) all_neural(11;2.78e-09) UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604) AGGTTAAAGAGATTGTTGAAT 0.458000 60 64 0 0 1 0 0 TACR3 6870 broad.mit.edu 37 4 104579460 104579460 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr4:104579460G>A ENST00000304883.2 - 2 789 c.649C>T c.(649-651)Cct>Tct p.P217S NM_001059.2 NP_001050.1 P29371 NK3R_HUMAN tachykinin receptor 3 217 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) AGACACTGAGGGAAGGCAAGT 0.423000 27 68 0 0 1 0 0 SLC16A2 6567 broad.mit.edu 37 X 73749091 73749091 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chrX:73749091C>T ENST00000276033.5 + 5 1602 c.1436C>T c.(1435-1437)cCc>cTc p.P479L SLC16A2_ENST00000587091.1_Missense_Mutation_p.P405L P36021 MOT8_HUMAN solute carrier family 16, member 2 (thyroid hormone transporter) 405 integral to plasma membrane|membrane fraction monocarboxylic acid transmembrane transporter activity|symporter activity breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2) 21 Pyruvic acid(DB00119) ATGATGATTCCCCTGTGCCGG 0.562000 6 51 0 0 1 0 0 ZNF367 195828 broad.mit.edu 37 9 99157137 99157137 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr9:99157137G>A ENST00000375256.4 - 3 955 c.659C>T c.(658-660)aCc>aTc p.T220I NM_153695.3 NP_710162.1 Q7RTV3 ZN367_HUMAN zinc finger protein 367 220 regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding cervix(1)|endometrium(4)|large_intestine(3)|lung(3)|prostate(1) 12 Acute lymphoblastic leukemia(62;0.0167) TTTCTCTCCGGTGTGAAGACG 0.398000 14 34 0 0 1 0 0 FBXW12 285231 broad.mit.edu 37 3 48421035 48421035 + Missense_Mutation SNP G G A rs137962592 TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr3:48421035G>A ENST00000296438.5 + 7 947 c.761G>A c.(760-762)cGt>cAt p.R254H FBXW12_ENST00000436231.1_Missense_Mutation_p.R97H|FBXW12_ENST00000415155.1_Missense_Mutation_p.R184H|FBXW12_ENST00000445170.1_Missense_Mutation_p.R235H NM_207102.2 NP_996985.2 Q6X9E4 FBW12_HUMAN F-box and WD repeat domain containing 12 254 breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) ACATACAGTCGTACCTTGCCA 0.418000 15 173 0 0 1 0 0 PRICKLE2 166336 broad.mit.edu 37 3 64133246 64133246 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr3:64133246G>A ENST00000295902.6 - 7 1505 c.920C>T c.(919-921)tCa>tTa p.S307L PRICKLE2_ENST00000564377.1_Missense_Mutation_p.S363L NM_198859.3 NP_942559.1 Q7Z3G6 PRIC2_HUMAN prickle homolog 2 (Drosophila) 307 LIM zinc-binding 3. cytoplasm|nuclear membrane zinc ion binding breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1) 32 Lung NSC(201;0.136) BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497) GCAGGCCCGTGAGCAGAATAT 0.592000 33 110 0 0 1 0 0 TLL1 7092 broad.mit.edu 37 4 166986936 166986936 + Silent SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr4:166986936C>T ENST00000061240.2 + 16 2756 c.2109C>T c.(2107-2109)tcC>tcT p.S703S TLL1_ENST00000507499.1_Silent_p.S726S NM_012464.4 NP_036596.3 O43897 TLL1_HUMAN tolloid-like 1 703 CUB 3. cell differentiation|proteolysis|skeletal system development extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 all_hematologic(180;0.221) Melanoma(52;0.0315)|Prostate(90;0.0405) GBM - Glioblastoma multiforme(119;0.103) TGATCACATCCCAGTTCAACA 0.393000 24 91 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 90106484 90106484 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr5:90106484C>T ENST00000405460.2 + 74 15503 c.15407C>T c.(15406-15408)tCc>tTc p.S5136F GPR98_ENST00000425867.2_Missense_Mutation_p.S797F NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 5136 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity p.S5136F(1) NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) ATGGATATTTCCTTCCCCGAG 0.433000 20 192 0 0 1 0 0 CYP2C19 1557 broad.mit.edu 37 10 96602772 96602772 + Silent SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr10:96602772C>T ENST00000371321.3 + 7 1222 c.1140C>T c.(1138-1140)ctC>ctT p.L380L CYP2C19_ENST00000464755.1_3'UTR NM_000769.1 NP_000760.1 P33261 CP2CJ_HUMAN cytochrome P450, family 2, subfamily C, polypeptide 19 380 exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 43 Colorectal(252;0.09) all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838) Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582) GAAACTACCTCATTCCCAAGG 0.468000 16 64 0 0 1 0 0 RGAG1 57529 broad.mit.edu 37 X 109695261 109695261 + Silent SNP T T G TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chrX:109695261T>G ENST00000465301.2 + 3 1662 c.1416T>G c.(1414-1416)acT>acG p.T472T RGAG1_ENST00000540313.1_Silent_p.T472T NM_020769.2 NP_065820.1 Q8NET4 RGAG1_HUMAN retrotransposon gag domain containing 1 472 NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 73 TGGCCAAAACTTCTGGAGCAA 0.512000 48 207 0 0 1 0 0 CACNA1H 8912 broad.mit.edu 37 16 1245554 1245554 + Silent SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr16:1245554C>T ENST00000348261.5 + 4 782 c.534C>T c.(532-534)atC>atT p.I178I CACNA1H_ENST00000358590.4_Silent_p.I178I|CACNA1H_ENST00000565831.1_Silent_p.I178I NM_021098.2 NP_066921.2 O95180 CAC1H_HUMAN calcium channel, voltage-dependent, T type, alpha 1H subunit 178 aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(4)|endometrium(5)|kidney(2)|lung(23) 34 Hepatocellular(780;0.00369) Flunarizine(DB04841)|Mibefradil(DB01388) ATTTCTTCATCGTCGTGGCGG 0.607000 3 4 0 0 1 0 0 TEAD2 8463 broad.mit.edu 37 19 49845809 49845809 + Silent SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr19:49845809G>A ENST00000377214.4 - 10 1487 c.1125C>T c.(1123-1125)taC>taT p.Y375Y TEAD2_ENST00000601519.1_Silent_p.Y375Y|TEAD2_ENST00000311227.2_Silent_p.Y372Y|TEAD2_ENST00000593945.1_Silent_p.Y376Y|TEAD2_ENST00000539846.1_Silent_p.Y244Y|TEAD2_ENST00000598810.1_Silent_p.Y376Y Q15562 TEAD2_HUMAN TEA domain family member 2 372 Transcriptional activation (Potential). hippo signaling cascade DNA binding|protein binding|sequence-specific DNA binding transcription factor activity central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1) 29 all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15) OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467) GCAGCAGGCGGTACACAAATC 0.582000 19 46 0 0 1 0 0 DCLK2 166614 broad.mit.edu 37 4 151023931 151023931 + Silent SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr4:151023931C>T ENST00000296550.7 + 2 1477 c.723C>T c.(721-723)gtC>gtT p.V241V DCLK2_ENST00000506325.1_Silent_p.V241V|DCLK2_ENST00000302176.8_Silent_p.V241V NM_001040260.3 NP_001035350.2 Q8N568 DCLK2_HUMAN doublecortin-like kinase 2 241 Doublecortin 2. intracellular signal transduction cytoplasm|cytoskeleton ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1) 26 all_hematologic(180;0.151) ACTCAGGAGTCGTCAAGAGGC 0.463000 10 45 0 0 1 0 0 ERN1 2081 broad.mit.edu 37 17 62121441 62121441 + Silent SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr17:62121441G>A ENST00000433197.2 - 22 2936 c.2841C>T c.(2839-2841)gcC>gcT p.A947A NM_001433.3 NP_001424.3 O75460 ERN1_HUMAN endoplasmic reticulum to nucleus signaling 1 947 KEN. activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to endoplasmic reticulum membrane ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1) 9 ACAGCTCCATGGCCCGGTAGG 0.657000 31 72 0 0 1 0 0 RBM38 55544 broad.mit.edu 37 20 55982761 55982761 + Silent SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr20:55982761C>T ENST00000356208.5 + 4 754 c.579C>T c.(577-579)gcC>gcT p.A193A RBM38_ENST00000371219.2_Silent_p.A112A|RBM38_ENST00000440234.2_3'UTR NM_017495.5 NP_059965.2 Q9H0Z9 RBM38_HUMAN RNA binding motif protein 38 193 3'-UTR-mediated mRNA stabilization|cell cycle|cell cycle arrest|cell differentiation|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 transcription of p21 class mediator|mRNA processing|negative regulation of cell proliferation|regulation of RNA splicing|RNA splicing cytosol|nucleus mRNA 3'-UTR binding|mRNA binding|nucleotide binding|RNA binding large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 9 Lung NSC(12;0.00242)|all_lung(29;0.00767)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(4;1.55e-12)|Epithelial(14;9.49e-09)|all cancers(14;5.01e-08) ACCCATACGCCGCCTCGCCTG 0.701000 13 29 0 0 1 0 0 MYO18B 84700 broad.mit.edu 37 22 26346369 26346369 + Silent SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr22:26346369C>T ENST00000335473.7 + 37 6035 c.5785C>T c.(5785-5787)Ctg>Ttg p.L1929L MYO18B_ENST00000407587.2_Silent_p.L1930L|MYO18B_ENST00000536101.1_Silent_p.L1929L NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 1929 Tail. nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 AGAACTGCAGCTGCAGCTGGA 0.458000 5 7 0 0 1 0 0 ARHGEF7 8874 broad.mit.edu 37 13 111935541 111935541 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr13:111935541C>T ENST00000375741.2 + 17 2094 c.1844C>T c.(1843-1845)cCg>cTg p.P615L ARHGEF7_ENST00000370623.3_Missense_Mutation_p.P522L|ARHGEF7_ENST00000544132.1_3'UTR|ARHGEF7_ENST00000218789.5_Missense_Mutation_p.P437L|ARHGEF7_ENST00000426073.2_Missense_Mutation_p.P437L|ARHGEF7_ENST00000375737.5_Missense_Mutation_p.P512L|ARHGEF7_ENST00000375723.1_Missense_Mutation_p.P437L|ARHGEF7_ENST00000317133.5_Missense_Mutation_p.P594L|ARHGEF7_ENST00000478679.1_Missense_Mutation_p.P359L|ARHGEF7_ENST00000375739.2_Missense_Mutation_p.P565L|ARHGEF7_ENST00000375736.4_Missense_Mutation_p.P437L NM_001113511.1|NM_145735.2 NP_001106983.1|NP_663788.1 Q14155 ARHG7_HUMAN Rho guanine nucleotide exchange factor (GEF) 7 615 apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol protein binding|Rho guanyl-nucleotide exchange factor activity breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1) 41 all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.188) AAGCCCGCGCCGCTGACGCCC 0.682000 3 6 0 0 1 0 0 ZNF443 10224 broad.mit.edu 37 19 12542545 12542545 + Silent SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr19:12542545C>T ENST00000301547.5 - 4 638 c.441G>A c.(439-441)ggG>ggA p.G147G CTD-3105H18.16_ENST00000595562.1_Intron NM_005815.4 NP_005806.2 Q9Y2A4 ZN443_HUMAN zinc finger protein 443 147 induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1) 28 TGAAGGCTTTCCCACGTTGTT 0.418000 45 81 0 0 1 0 0 PDE6A 5145 broad.mit.edu 37 5 149245817 149245817 + Splice_Site SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr5:149245817C>T ENST00000255266.5 - 20 2394 c.e20-1 NM_000440.2 NP_000431.2 P16499 PDE6A_HUMAN phosphodiesterase 6A, cGMP-specific, rod, alpha cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception cytosol|plasma membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 44 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) CCATCATGGGCTGTCATGGGG 0.428000 5 63 0 0 1 0 0 GHDC 84514 broad.mit.edu 37 17 40343104 40343104 + Silent SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr17:40343104G>A ENST00000301671.8 - 5 1455 c.1014C>T c.(1012-1014)ctC>ctT p.L338L GHDC_ENST00000436923.2_Silent_p.L338L|GHDC_ENST00000593209.1_Silent_p.L338L|GHDC_ENST00000414034.3_Silent_p.L338L|GHDC_ENST00000587427.1_Silent_p.L338L|GHDC_ENST00000428494.2_Silent_p.L299L Q8N2G8 GHDC_HUMAN GH3 domain containing 338 endoplasmic reticulum|nuclear envelope central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304) BRCA - Breast invasive adenocarcinoma(366;0.124) CGGCCAAAAGGAGGGTGGAGG 0.657000 15 82 0 0 1 0 0 RPSAP52 204010 broad.mit.edu 37 12 66152542 66152542 + RNA SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr12:66152542C>T ENST00000489520.2 - 0 401 NR_026825.2 GCCAGTATTCCTGGAGGATAT 0.502000 10 22 0 0 1 0 0 IQCB1 9657 broad.mit.edu 37 3 121491519 121491519 + Silent SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr3:121491519G>A ENST00000310864.6 - 14 1666 c.1452C>T c.(1450-1452)gcC>gcT p.A484A IQCB1_ENST00000349820.6_Silent_p.A351A NM_001023570.2 NP_001018864.2 Q15051 IQCB1_HUMAN IQ motif containing B1 484 cilium assembly|maintenance of organ identity|photoreceptor cell maintenance centrosome|photoreceptor connecting cilium calmodulin binding NS(1)|biliary_tract(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1) 30 GBM - Glioblastoma multiforme(114;0.0983) CTTGAGCTTGGGCATGGAGCT 0.517000 13 130 0 0 1 0 0 CYLC1 1538 broad.mit.edu 37 X 83128247 83128247 + Silent SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chrX:83128247C>T ENST00000329312.4 + 4 568 c.531C>T c.(529-531)tcC>tcT p.S177S NM_021118.1 NP_066941.1 P35663 CYLC1_HUMAN cylicin, basic protein of sperm head cytoskeleton 1 177 cell differentiation|multicellular organismal development|spermatogenesis acrosomal matrix|cytoskeletal calyx structural molecule activity NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 58 AGTCAAAATCCAGTTCAGAAA 0.313000 9 38 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82508686 82508686 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr7:82508686C>T ENST00000423517.2 - 10 13958 c.13621G>A c.(13621-13623)Gga>Aga p.G4541R PCLO_ENST00000333891.8_Missense_Mutation_p.G4541R|PCLO_ENST00000426442.2_5'UTR NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 4440 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 TCCGCACTTCCCCCAGGAAGA 0.358000 9 27 0 0 1 0 0 NSUN5P1 155400 broad.mit.edu 37 7 75044431 75044431 + RNA SNP C C T rs236650 by1000genomes TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr7:75044431C>T ENST00000393633.2 + 0 3599 large_intestine(1)|lung(1) 2 GCTGGACCCCCGCCAGGCTCC 0.632000 5 63 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126373155 126373155 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr4:126373155C>T ENST00000394329.3 + 9 10997 c.10984C>T c.(10984-10986)Cca>Tca p.P3662S FAT4_ENST00000335110.5_Missense_Mutation_p.P1960S NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 3662 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 CTTCAGTATTCCAGGGGGTAC 0.507000 11 99 0 0 1 0 0 DISP1 84976 broad.mit.edu 37 1 223165399 223165399 + Missense_Mutation SNP A A G TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:223165399A>G ENST00000284476.6 + 6 1000 c.836A>G c.(835-837)aAa>aGa p.K279R DISP1_ENST00000495684.1_3'UTR NM_032890.3 NP_116279.2 Q96F81 DISP1_HUMAN dispatched homolog 1 (Drosophila) 279 diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway basolateral plasma membrane|integral to membrane hedgehog receptor activity|peptide transporter activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5) 69 GBM - Glioblastoma multiforme(131;0.102) GAAAGAGAGAAAAGAGAAGTT 0.403000 5 40 0 0 1 0 0 GPR97 222487 broad.mit.edu 37 16 57713204 57713204 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr16:57713204C>T ENST00000333493.4 + 5 769 c.608C>T c.(607-609)tCt>tTt p.S203F GPR97_ENST00000327655.6_5'UTR|GPR97_ENST00000450388.3_Missense_Mutation_p.S83F NM_170776.4 NP_740746.4 Q86Y34 GPR97_HUMAN G protein-coupled receptor 97 203 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 ATCGTCTTCTCTCACCAGCGA 0.637000 16 81 0 0 1 0 0 NBEA 26960 broad.mit.edu 37 13 36241700 36241700 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr13:36241700C>T ENST00000540320.1 + 56 9125 c.8591C>T c.(8590-8592)tCa>tTa p.S2864L NBEA_ENST00000379939.2_Missense_Mutation_p.S2861L|NBEA_ENST00000310336.4_Missense_Mutation_p.S2864L|NBEA_ENST00000537702.1_Missense_Mutation_p.S657L|NBEA_ENST00000379922.3_Missense_Mutation_p.S442L|NBEA_ENST00000400445.3_Missense_Mutation_p.S2864L Q8NFP9 NBEA_HUMAN neurobeachin 2864 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 108 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) ATCAATGATTCAACACGGGTA 0.373000 39 113 0 0 1 0 0 BAIAP2 10458 broad.mit.edu 37 17 79077474 79077474 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr17:79077474C>T ENST00000321300.6 + 8 908 c.815C>T c.(814-816)cCg>cTg p.P272L BAIAP2_ENST00000428708.2_Missense_Mutation_p.P272L|BAIAP2_ENST00000416299.2_Missense_Mutation_p.P135L|BAIAP2_ENST00000575245.1_Missense_Mutation_p.P305L|BAIAP2_ENST00000321280.7_Missense_Mutation_p.P272L|BAIAP2_ENST00000392411.3_Missense_Mutation_p.P194L|BAIAP2_ENST00000575712.1_Missense_Mutation_p.P272L|BAIAP2_ENST00000435091.3_Missense_Mutation_p.P272L NM_001144888.1|NM_017451.2 NP_001138360.1|NP_059345.1 Q9UQB8 BAIP2_HUMAN BAI1-associated protein 2 272 axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1) 18 all_neural(118;0.101) BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524) GACCCCATTCCGGGGGCCAAG 0.697000 16 42 0 0 1 0 0 STRN 6801 broad.mit.edu 37 2 37076681 37076681 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr2:37076681G>A ENST00000263918.4 - 18 2269 c.2261C>T c.(2260-2262)tCg>tTg p.S754L STRN_ENST00000379213.2_Missense_Mutation_p.S705L NM_003162.3 NP_003153.2 O43815 STRN_HUMAN striatin, calmodulin binding protein 754 dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 33 Ovarian(717;0.0129)|all_hematologic(82;0.21) ATCATGAATCGATTCTTCAAA 0.393000 23 65 0 0 1 0 0 THSD7B 80731 broad.mit.edu 37 2 138330037 138330037 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr2:138330037G>A ENST00000409968.1 + 17 3512 c.3334G>A c.(3334-3336)Gaa>Aaa p.E1112K THSD7B_ENST00000413152.2_Missense_Mutation_p.E1084K|THSD7B_ENST00000272643.3_Missense_Mutation_p.E1115K|THSD7B_ENST00000543459.1_Intron thrombospondin, type I, domain containing 7B NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) CAACCAGGATGAAATTCCCCC 0.448000 12 28 0 0 1 0 0 DISP1 84976 broad.mit.edu 37 1 223178203 223178203 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:223178203C>T ENST00000284476.6 + 8 3628 c.3464C>T c.(3463-3465)tCc>tTc p.S1155F NM_032890.3 NP_116279.2 Q96F81 DISP1_HUMAN dispatched homolog 1 (Drosophila) 1155 diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway basolateral plasma membrane|integral to membrane hedgehog receptor activity|peptide transporter activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5) 69 GBM - Glioblastoma multiforme(131;0.102) AGTGCCTTTTCCCATGCCTTG 0.473000 29 48 0 0 1 0 0 NEO1 4756 broad.mit.edu 37 15 73562536 73562536 + Nonsense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr15:73562536C>T ENST00000339362.5 + 18 3127 c.2680C>T c.(2680-2682)Cga>Tga p.R894* NEO1_ENST00000560262.1_Nonsense_Mutation_p.R894*|NEO1_ENST00000261908.6_Nonsense_Mutation_p.R894*|NEO1_ENST00000558964.1_Nonsense_Mutation_p.R894* Q92859 NEO1_HUMAN neogenin 1 894 Fibronectin type-III 5. axon guidance|cell adhesion|positive regulation of muscle cell differentiation Golgi apparatus|integral to plasma membrane|nucleus NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2) 57 CTACACCGTCCGATGGAAAAC 0.453000 26 72 0 0 1 0 0 PLXNB3 5365 broad.mit.edu 37 X 153038448 153038448 + Silent SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chrX:153038448C>T ENST00000538966.1 + 18 3223 c.2952C>T c.(2950-2952)ttC>ttT p.F984F PLXNB3_ENST00000538776.1_Silent_p.F614F|PLXNB3_ENST00000361971.5_Silent_p.F961F|PLXNB3_ENST00000538282.1_Silent_p.F571F NM_001163257.1 NP_001156729.1 Q9ULL4 PLXB3_HUMAN plexin B3 961 IPT/TIG 2. axon guidance integral to membrane|intracellular|plasma membrane protein binding|receptor activity central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 32 all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05) CCAGTGCCTTCGTGGGTGGCC 0.657000 8 18 0 0 1 0 0 DDX60 55601 broad.mit.edu 37 4 169206021 169206021 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr4:169206021G>A ENST00000393743.3 - 12 1802 c.1511C>T c.(1510-1512)tCt>tTt p.S504F NM_017631.5 NP_060101.3 Q8IY21 DDX60_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 504 ATP binding|ATP-dependent helicase activity|RNA binding breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4) 63 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.0485) GGGTTTATGAGAATGCCAGTG 0.368000 15 50 0 0 1 0 0 TMEM178A 130733 broad.mit.edu 37 2 39931233 39931233 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr2:39931233G>A ENST00000281961.2 + 2 469 c.413G>A c.(412-414)cGa>cAa p.R138Q TMEM178A_ENST00000482239.1_3'UTR NM_152390.2 NP_689603.2 transmembrane protein 178A ATTGCGCAGCGATGCACGGCC 0.448000 23 29 0 0 1 0 0 DIP2B 57609 broad.mit.edu 37 12 51138512 51138512 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr12:51138512G>A ENST00000301180.5 + 38 4655 c.4621G>A c.(4621-4623)Gac>Aac p.D1541N NM_173602.2 NP_775873.2 Q9P265 DIP2B_HUMAN DIP2 disco-interacting protein 2 homolog B (Drosophila) 1541 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 GGTTGTGGTGGACCCAGGTGT 0.547000 10 53 0 0 1 0 0 COL11A1 1301 broad.mit.edu 37 1 103380274 103380274 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:103380274G>A ENST00000358392.2 - 51 4263 c.3946C>T c.(3946-3948)Cct>Tct p.P1316S COL11A1_ENST00000512756.1_Missense_Mutation_p.P1188S|COL11A1_ENST00000370096.3_Missense_Mutation_p.P1304S|COL11A1_ENST00000353414.4_Missense_Mutation_p.P1265S NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 1304 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) TTACCCTTAGGGCCATCATCA 0.512000 3 25 0 0 1 0 0 COL3A1 1281 broad.mit.edu 37 2 189872299 189872299 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr2:189872299G>A ENST00000304636.3 + 45 3499 c.3329G>A c.(3328-3330)gGa>gAa p.G1110E COL3A1_ENST00000317840.5_Intron NM_000090.3 NP_000081.1 P02461 CO3A1_HUMAN collagen, type III, alpha 1 1110 Triple-helical region. axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 126 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) GGACATCGAGGATTCCCTGGT 0.428000 5 15 0 0 1 0 0 SNCAIP 9627 broad.mit.edu 37 5 121759222 121759222 + Missense_Mutation SNP A A G TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr5:121759222A>G ENST00000261367.7 + 6 2359 c.931A>G c.(931-933)Agt>Ggt p.S311G SNCAIP_ENST00000414317.2_Intron|SNCAIP_ENST00000379533.2_Missense_Mutation_p.S311G|SNCAIP_ENST00000504884.2_Intron|SNCAIP_ENST00000379538.3_Intron|SNCAIP_ENST00000542191.1_Intron|SNCAIP_ENST00000379536.2_Missense_Mutation_p.S264G|SNCAIP_ENST00000503116.2_Missense_Mutation_p.S311G|SNCAIP_ENST00000261368.8_Missense_Mutation_p.S264G Q9Y6H5 SNCAP_HUMAN synuclein, alpha interacting protein 264 cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion cytoplasm|neuronal cell body|nucleolus|presynaptic membrane ubiquitin protein ligase binding NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 39 all_cancers(142;0.00787)|Prostate(80;0.0327) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232) CAAGACATTTAGTGATCCTCA 0.473000 4 54 0 0 1 0 0 OR13G1 441933 broad.mit.edu 37 1 247835492 247835492 + Silent SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:247835492C>T ENST00000359688.2 - 1 873 c.852G>A c.(850-852)ccG>ccA p.P284P RP11-634B7.4_ENST00000449298.1_RNA NM_001005487.1 NP_001005487.1 Q8NGZ3 O13G1_HUMAN olfactory receptor, family 13, subfamily G, member 1 284 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2) 35 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) TGTACACCATCGGGTTTAATG 0.438000 27 145 0 0 1 0 0 TLR8 51311 broad.mit.edu 37 X 12937851 12937851 + Missense_Mutation SNP A A G TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chrX:12937851A>G ENST00000218032.6 + 2 779 c.692A>G c.(691-693)aAc>aGc p.N231S TLR8_ENST00000311912.5_Missense_Mutation_p.N249S NM_138636.4 NP_619542.1 Q9NR97 TLR8_HUMAN toll-like receptor 8 231 cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process endosome membrane DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 TTTCTGAGCAACACCCAGATC 0.413000 8 163 0 0 1 0 0 RHOXF1 158800 broad.mit.edu 37 X 119249517 119249517 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chrX:119249517C>T ENST00000217999.2 - 1 330 c.256G>A c.(256-258)Gag>Aag p.E86K RP4-755D9.1_ENST00000553843.1_RNA NM_139282.1 NP_644811.1 Q8NHV9 RHXF1_HUMAN Rhox homeobox family, member 1 86 gamete generation|multicellular organismal development|steroid hormone receptor signaling pathway nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1) 10 GCCGGCTCCTCCGGCGGGGGC 0.692000 34 57 0 0 1 0 0 FRG2B 441581 broad.mit.edu 37 10 135440152 135440152 + Missense_Mutation SNP T T C TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr10:135440152T>C ENST00000443774.1 - 1 144 c.95A>G c.(94-96)aAg>aGg p.K32R FRG2B_ENST00000425520.1_Missense_Mutation_p.K32R Q96QU4 FRG2B_HUMAN FSHD region gene 2 family, member B 32 nucleus endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1) 20 all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175) OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06) ATCTGAGCCCTTTTCTGTAAA 0.502000 6 102 0 0 1 0 0 SLC18A3 6572 broad.mit.edu 37 10 50819306 50819306 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr10:50819306G>A ENST00000374115.3 + 1 960 c.520G>A c.(520-522)Gac>Aac p.D174N CHAT_ENST00000339797.1_Intron NM_003055.2 NP_003046.2 Q16572 VACHT_HUMAN solute carrier family 18 (vesicular acetylcholine transporter), member 3 174 neurotransmitter secretion clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction acetylcholine transmembrane transporter activity endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2) 43 CTTCGCCGAGGACTACGCCAC 0.652000 21 26 0 0 1 0 0 PTH1R 5745 broad.mit.edu 37 3 46944857 46944857 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr3:46944857C>T ENST00000449590.1 + 16 1696 c.1493C>T c.(1492-1494)cCc>cTc p.P498L PTH1R_ENST00000430002.2_Missense_Mutation_p.P498L|PTH1R_ENST00000313049.5_Missense_Mutation_p.P498L|PTH1R_ENST00000418619.1_Missense_Mutation_p.P498L NM_000316.2 NP_000307.1 Q03431 PTH1R_HUMAN parathyroid hormone 1 receptor 498 cytoplasm|integral to plasma membrane|nucleus parathyroid hormone receptor activity|peptide hormone binding|protein self-association breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2) 19 AGCTACGGCCCCATGGTGTCC 0.622000 10 34 0 0 1 0 0 ASXL2 55252 broad.mit.edu 37 2 25966697 25966697 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr2:25966697C>T ENST00000435504.4 - 13 2802 c.2509G>A c.(2509-2511)Ggt>Agt p.G837S ASXL2_ENST00000404843.1_Splice_Site_p.G577_splice|ASXL2_ENST00000336112.4_Missense_Mutation_p.G809S|ASXL2_ENST00000272341.4_Splice_Site_p.G577_splice Q76L83 ASXL2_HUMAN additional sex combs like 2 (Drosophila) 837 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3) 33 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AGAGCAGGACCTGTTGGAGAA 0.517000 49 171 0 0 1 0 0 GRIA2 2891 broad.mit.edu 37 4 158224719 158224719 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr4:158224719C>T ENST00000296526.7 + 3 570 c.245C>T c.(244-246)tCg>tTg p.S82L GRIA2_ENST00000449365.1_Missense_Mutation_p.S35L|GRIA2_ENST00000507898.1_Missense_Mutation_p.S35L|GRIA2_ENST00000393815.2_Missense_Mutation_p.S35L|GRIA2_ENST00000504801.1_3'UTR|GRIA2_ENST00000264426.9_Missense_Mutation_p.S82L NM_000826.3 NP_000817.2 P42262 GRIA2_HUMAN glutamate receptor, ionotropic, AMPA 2 82 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity p.S82L(1) NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.0294) L-Glutamic Acid(DB00142) TCCCAGTTTTCGAGAGGAGTC 0.368000 17 59 0 0 1 0 0 FANK1 92565 broad.mit.edu 37 10 127677213 127677213 + Missense_Mutation SNP G G T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr10:127677213G>T ENST00000368695.1 + 3 389 c.267G>T c.(265-267)gaG>gaT p.E89D FANK1_ENST00000368689.1_Missense_Mutation_p.E89D|FANK1_ENST00000449042.2_Missense_Mutation_p.E89D|FANK1_ENST00000368693.1_Missense_Mutation_p.E95D NM_145235.3 NP_660278.3 Q8TC84 FANK1_HUMAN fibronectin type III and ankyrin repeat domains 1 95 Fibronectin type-III. cytoplasm|nucleus central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1) 21 all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936) GGGAGTGTGAGTACAGCCCAC 0.488000 57 59 5.0973e-17 5.24361e-17 1 1 0 TNR 7143 broad.mit.edu 37 1 175360568 175360568 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:175360568C>T ENST00000367674.1 - 7 2071 c.1363G>A c.(1363-1365)Gaa>Aaa p.E455K TNR_ENST00000263525.2_Missense_Mutation_p.E455K NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R 455 Fibronectin type-III 2. 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) ACTCCCCCTTCATTGTTCTGG 0.468000 11 25 0 0 1 0 0 CYP4F11 57834 broad.mit.edu 37 19 16025445 16025445 + Silent SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr19:16025445G>A ENST00000402119.3 - 10 1707 c.1281C>T c.(1279-1281)atC>atT p.I427I CYP4F11_ENST00000248041.7_Silent_p.I427I|CYP4F11_ENST00000326742.7_Intron NM_021187.3 NP_067010.3 Q9HBI6 CP4FB_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 11 427 inflammatory response|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome aromatase activity|electron carrier activity|heme binding NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3) 25 GGTTGTAATGGATCCCGATAA 0.567000 25 78 0 0 1 0 0 DNAAF3 352909 broad.mit.edu 37 19 55670677 55670677 + Nonsense_Mutation SNP G G T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr19:55670677G>T ENST00000527223.2 - 12 1581 c.1580C>A c.(1579-1581)tCa>tAa p.S527* CTD-2587H24.4_ENST00000587871.1_Silent_p.I121I|DNAAF3_ENST00000587789.2_5'UTR|DNAAF3_ENST00000455045.1_Nonsense_Mutation_p.S406*|DNAAF3_ENST00000391720.4_Nonsense_Mutation_p.S507*|CTD-2587H24.5_ENST00000591665.1_RNA|DNAAF3_ENST00000524407.2_Nonsense_Mutation_p.S460* NM_001256714.1 NP_001243643.1 Q8N9W5 CS051_HUMAN dynein, axonemal, assembly factor 3 460 GCCCAGAGCTGATTCCTGGGA 0.622000 11 32 3.86212e-05 3.91012e-05 1 1 0 MAGEC1 9947 broad.mit.edu 37 X 140995620 140995620 + Silent SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chrX:140995620C>T ENST00000285879.4 + 4 2716 c.2430C>T c.(2428-2430)ctC>ctT p.L810L MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 810 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) AGTCTCCTCTCCAGAGTCCTG 0.552000 HNSCC(15;0.026) 120 317 0 0 1 0 0 NLGN4X 57502 broad.mit.edu 37 X 5821284 5821284 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chrX:5821284C>T ENST00000381095.3 - 5 2062 c.1435G>A c.(1435-1437)Gaa>Aaa p.E479K NLGN4X_ENST00000381092.1_Missense_Mutation_p.E479K|NLGN4X_ENST00000275857.6_Missense_Mutation_p.E479K|NLGN4X_ENST00000381093.2_Missense_Mutation_p.E499K|NLGN4X_ENST00000538097.1_Missense_Mutation_p.E479K NM_181332.1 NP_851849.1 Q8N0W4 NLGNX_HUMAN neuroligin 4, X-linked 479 brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior cell surface|dendrite|integral to plasma membrane|synapse chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 81 GGCTTCATTTCGCTTTGGCAG 0.602000 24 107 0 0 1 0 0 OR2W3 343171 broad.mit.edu 37 1 248059676 248059676 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:248059676G>A ENST00000537741.1 + 3 1045 c.788G>A c.(787-789)gGa>gAa p.G263E OR2W3_ENST00000360358.3_Missense_Mutation_p.G263E Q7Z3T1 OR2W3_HUMAN olfactory receptor, family 2, subfamily W, member 3 263 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3) 49 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0319) ATGCAGCCAGGAGCCAGTTCT 0.527000 20 154 0 0 1 0 0 OR5T3 390154 broad.mit.edu 37 11 56020129 56020129 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr11:56020129C>T ENST00000303059.3 + 1 454 c.454C>T c.(454-456)Cac>Tac p.H152Y NM_001004747.1 NP_001004747.1 Q8NGG3 OR5T3_HUMAN olfactory receptor, family 5, subfamily T, member 3 152 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 39 Esophageal squamous(21;0.00448) GGCTTATGATCACTATGTAGC 0.408000 59 132 0 0 1 0 0 MTUS1 57509 broad.mit.edu 37 8 17611986 17611986 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr8:17611986G>A ENST00000381869.3 - 2 1804 c.1331C>T c.(1330-1332)cCg>cTg p.P444L MTUS1_ENST00000262102.6_Missense_Mutation_p.P444L|MTUS1_ENST00000381862.3_Missense_Mutation_p.P444L|MTUS1_ENST00000519263.1_Missense_Mutation_p.P444L NM_001001925.2 NP_001001925.1 Q9ULD2 MTUS1_HUMAN microtubule associated tumor suppressor 1 444 Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1) 36 Colorectal(111;0.0778) CGCTTCAATCGGTGAAACAGA 0.448000 45 141 0 0 1 0 0 BNIP1 662 broad.mit.edu 37 5 172571559 172571559 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr5:172571559C>T ENST00000231668.9 + 1 115 c.11C>T c.(10-12)cCc>cTc p.P4L BNIP1_ENST00000393770.4_Missense_Mutation_p.P4L|BNIP1_ENST00000351486.5_Missense_Mutation_p.P4L|CTC-209H22.3_ENST00000521251.1_RNA|BNIP1_ENST00000352523.6_Missense_Mutation_p.P4L NM_013979.2 NP_053582.2 Q12981 SEC20_HUMAN BCL2/adenovirus E1B 19kDa interacting protein 1 4 anti-apoptosis|apoptosis|endoplasmic reticulum membrane fusion|endoplasmic reticulum organization|induction of apoptosis|vesicle-mediated transport integral to endoplasmic reticulum membrane|nuclear envelope|SNARE complex protein binding breast(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1) 11 Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) ATGGCGGCTCCCCAAGACGTC 0.612000 OREG0017054 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 18 0 0 1 0 0 GALNT5 11227 broad.mit.edu 37 2 158114551 158114551 + Translation_Start_Site SNP A A T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr2:158114551A>T ENST00000259056.4 + 0 442 NM_014568.1 NP_055383.1 Q7Z7M9 GALT5_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5) glycosaminoglycan biosynthetic process Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 56 CACTCAAGGTAAGCAGGCTAA 0.537000 19 48 0 0 1 0 0 COL4A4 1286 broad.mit.edu 37 2 227886864 227886864 + Silent SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr2:227886864C>T ENST00000396625.3 - 44 4323 c.4116G>A c.(4114-4116)gtG>gtA p.V1372V COL4A4_ENST00000329662.7_Silent_p.V1369V NM_000092.4 NP_000083.3 P53420 CO4A4_HUMAN collagen, type IV, alpha 4 1372 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 98 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) GACAGTCATCCACATCTGCAG 0.567000 47 248 0 0 1 0 0 MOGAT3 346606 broad.mit.edu 37 7 100839262 100839262 + Nonsense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr7:100839262C>T ENST00000379423.3 - 6 848 c.788G>A c.(787-789)tGg>tAg p.W263* MOGAT3_ENST00000223114.4_Missense_Mutation_p.G331R|MOGAT3_ENST00000440203.2_3'UTR Q86VF5 MOGT3_HUMAN monoacylglycerol O-acyltransferase 3 0 glycerol metabolic process|lipid biosynthetic process endoplasmic reticulum membrane|integral to membrane 2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3) 22 Lung NSC(181;0.168)|all_lung(186;0.215) GCGGGGACCCCACAGCTTTCC 0.642000 24 72 0 0 1 0 0 UNC13C 440279 broad.mit.edu 37 15 54306718 54306718 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr15:54306718G>A ENST00000545554.1 + 1 1618 c.1618G>A c.(1618-1620)Gat>Aat p.D540N UNC13C_ENST00000260323.11_Missense_Mutation_p.D540N|UNC13C_ENST00000537900.1_Missense_Mutation_p.D540N Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 540 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) CTCACAGAGTGATTTTTTCAC 0.368000 16 48 0 0 1 0 0 PPP2R1A 5518 broad.mit.edu 37 19 52723474 52723474 + Silent SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr19:52723474C>T ENST00000322088.6 + 11 1393 c.1335C>T c.(1333-1335)tcC>tcT p.S445S PPP2R1A_ENST00000444322.2_Silent_p.S390S|PPP2R1A_ENST00000462990.1_Silent_p.S266S NM_014225.5 NP_055040.2 P30153 2AAA_HUMAN protein phosphatase 2, regulatory subunit A, alpha 445 PP2A subunit C binding. ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 135 GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015) AACTTAACTCCTTGTGCATGG 0.537000 Mis clear cell ovarian carcinoma 29 110 0 0 1 0 0 OPRL1 4987 broad.mit.edu 37 20 62729389 62729389 + Silent SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr20:62729389C>T ENST00000349451.3 + 5 880 c.468C>T c.(466-468)atC>atT p.I156I OPRL1_ENST00000355631.4_Silent_p.I156I|OPRL1_ENST00000336866.2_Silent_p.I156I NM_001200019.1 NP_001186948.1 P41146 OPRX_HUMAN opiate receptor-like 1 156 elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception integral to plasma membrane protein binding|X-opioid receptor activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1) 19 all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08) GCCACCCCATCCGTGCCCTCG 0.572000 46 94 0 0 1 0 0 PLCZ1 89869 broad.mit.edu 37 12 18889240 18889240 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr12:18889240C>T ENST00000266505.7 - 3 313 c.50G>A c.(49-51)gGa>gAa p.G17E PLCZ1_ENST00000447925.2_Missense_Mutation_p.G15E|RP11-361I14.2_ENST00000536931.1_RNA|PLCZ1_ENST00000435379.1_Missense_Mutation_p.G15E|PLCZ1_ENST00000539875.1_Missense_Mutation_p.G17E Q86YW0 PLCZ1_HUMAN phospholipase C, zeta 1 17 intracellular signal transduction|lipid catabolic process|multicellular organismal development nucleus|perinuclear region of cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 31 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241) GTTAATTTTTCCACCTCTGAA 0.308000 9 24 0 0 1 0 0 GHDC 84514 broad.mit.edu 37 17 40343053 40343053 + Silent SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr17:40343053G>A ENST00000301671.8 - 5 1506 c.1065C>T c.(1063-1065)gaC>gaT p.D355D GHDC_ENST00000436923.2_Silent_p.D355D|GHDC_ENST00000593209.1_Silent_p.D355D|GHDC_ENST00000414034.3_Silent_p.D355D|GHDC_ENST00000587427.1_Silent_p.D355D|GHDC_ENST00000428494.2_Silent_p.D316D Q8N2G8 GHDC_HUMAN GH3 domain containing 355 endoplasmic reticulum|nuclear envelope central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304) BRCA - Breast invasive adenocarcinoma(366;0.124) GGCTGGCGCGGTCCGTCAGCA 0.657000 15 68 0 0 1 0 0 DDX28 55794 broad.mit.edu 37 16 68055781 68055781 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr16:68055781G>A ENST00000332395.5 - 1 1989 c.1325C>T c.(1324-1326)tCc>tTc p.S442F NM_018380.3 NP_060850.2 Q9NUL7 DDX28_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 28 442 Helicase C-terminal. mitochondrial nucleoid|nucleus ATP binding|ATP-dependent helicase activity|RNA binding central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 13 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0116)|Epithelial(162;0.0474)|all cancers(182;0.233) CTTCTGGAAGGACTGGAAGAT 0.512000 31 34 0 0 1 0 0 KIAA1377 57562 broad.mit.edu 37 11 101818843 101818843 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr11:101818843C>T ENST00000263468.8 + 4 746 c.476C>T c.(475-477)cCc>cTc p.P159L NM_020802.2 NP_065853.2 Q9P2H0 K1377_HUMAN KIAA1377 159 protein binding breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 53 all_epithelial(12;0.0104) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931) BRCA - Breast invasive adenocarcinoma(274;0.038) GTAAACCTTCCCTTTTCCCGT 0.343000 11 25 0 0 1 0 0 PCDHB8 56128 broad.mit.edu 37 5 140559510 140559510 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr5:140559510G>A ENST00000239444.2 + 1 2140 c.1895G>A c.(1894-1896)aGc>aAc p.S632N NM_019120.3 NP_061993.2 Q9UN66 PCDB8_HUMAN 632 Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AGGCTGCTGAGCGAGCGCGAC 0.687000 12 127 0 0 1 0 0 HMGCS2 3158 broad.mit.edu 37 1 120295927 120295927 + Nonsense_Mutation SNP G G A rs137852637 TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:120295927G>A ENST00000369406.3 - 7 1319 c.1270C>T c.(1270-1272)Cga>Tga p.R424* HMGCS2_ENST00000544913.2_Nonsense_Mutation_p.R382* NM_005518.3 NP_005509.1 P54868 HMCS2_HUMAN 3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial) 424 acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process mitochondrial matrix hydroxymethylglutaryl-CoA synthase activity NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 28 all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219) all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124) Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595) TGGGATACTCGAAATGAAAAG 0.478000 14 15 0 0 1 0 0 ADNP2 22850 broad.mit.edu 37 18 77896482 77896482 + Silent SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr18:77896482C>T ENST00000262198.4 + 4 3641 c.3186C>T c.(3184-3186)ttC>ttT p.F1062F NM_014913.3 NP_055728.1 Q6IQ32 ADNP2_HUMAN ADNP homeobox 2 1062 cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2) 42 all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2) Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164) AAGATTATTTCCATAAGAAAC 0.338000 23 49 0 0 1 0 0 BCL11B 64919 broad.mit.edu 37 14 99723898 99723898 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr14:99723898C>T ENST00000345514.2 - 2 603 c.337G>A c.(337-339)Gtg>Atg p.V113M BCL11B_ENST00000357195.3_Missense_Mutation_p.V113M|BCL11B_ENST00000443726.2_Intron NM_022898.1 NP_075049.1 Q9C0K0 BC11B_HUMAN B-cell CLL/lymphoma 11B (zinc finger protein) 512 nucleus zinc ion binding NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2) 34 Melanoma(154;0.0866)|all_epithelial(191;0.241) COAD - Colon adenocarcinoma(157;0.103) CCGATCTCCACCGGCTCGGAC 0.612000 T TLX3 T-ALL 9 82 0 0 1 0 0 SETD5 55209 broad.mit.edu 37 3 9516192 9516192 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr3:9516192G>A ENST00000402466.1 + 22 4031 c.3263G>A c.(3262-3264)cGa>cAa p.R1088Q SETD5_ENST00000302463.6_Missense_Mutation_p.R1088Q|SETD5_ENST00000407969.1_Missense_Mutation_p.R1205Q|SETD5_ENST00000402198.1_Missense_Mutation_p.R1186Q|SETD5_ENST00000406341.1_Missense_Mutation_p.R1186Q Q9C0A6 SETD5_HUMAN SET domain containing 5 1186 NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Medulloblastoma(99;0.227) OV - Ovarian serous cystadenocarcinoma(96;0.112) AAGGTCCTCCGAAGCAGCGTG 0.562000 37 90 0 0 1 0 0 PCDHAC1 56135 broad.mit.edu 37 5 140307480 140307480 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr5:140307480G>A ENST00000253807.2 + 1 1003 c.1003G>A c.(1003-1005)Gat>Aat p.D335N PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.D335N|PCDHA6_ENST00000529310.1_Intron NM_018898.3 NP_061721.2 NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 65 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGACGTGAACGATCATGCCCC 0.532000 87 89 0 0 1 0 0 FLG2 388698 broad.mit.edu 37 1 152328601 152328601 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:152328601G>A ENST00000388718.5 - 3 1733 c.1661C>T c.(1660-1662)tCt>tTt p.S554F FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 554 Ser-rich. calcium ion binding|structural molecule activity NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GCCATAGCCAGATGATTGACT 0.498000 146 642 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179647693 179647693 + Silent SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr2:179647693G>A ENST00000589042.1 - 18 3164 c.2940C>T c.(2938-2940)gaC>gaT p.D980D TTN_ENST00000342175.6_Silent_p.D934D|TTN_ENST00000591111.1_Silent_p.D980D|TTN_ENST00000359218.5_Silent_p.D934D|TTN_ENST00000360870.5_Silent_p.D980D|TTN_ENST00000460472.2_Silent_p.D934D|TTN_ENST00000342992.6_Silent_p.D980D NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 980 Ig-like 3. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CGATTTGGTAGTCTTCCCTGT 0.468000 23 78 0 0 1 0 0 OR4N4 283694 broad.mit.edu 37 15 22382594 22382594 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr15:22382594G>A ENST00000328795.4 + 1 213 c.122G>A c.(121-123)gGa>gAa p.G41E RP11-69H14.6_ENST00000558896.1_RNA NM_001005241.2 NP_001005241.2 Q8N0Y3 OR4N4_HUMAN olfactory receptor, family 4, subfamily N, member 4 41 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 40 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) ATCCTCCCTGGAAATTTTCTC 0.443000 79 463 0 0 1 0 0 SH3RF1 57630 broad.mit.edu 37 4 170043353 170043353 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr4:170043353G>A ENST00000284637.9 - 7 1585 c.1244C>T c.(1243-1245)cCa>cTa p.P415L SH3RF1_ENST00000508685.1_5'UTR NM_020870.3 NP_065921.2 Q7Z6J0 SH3R1_HUMAN SH3 domain containing ring finger 1 415 Golgi apparatus|lamellipodium|perinuclear region of cytoplasm ligase activity|zinc ion binding NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 31 Prostate(90;0.00267)|Renal(120;0.0183) GBM - Glioblastoma multiforme(119;0.0287) GGTGGCGCCTGGTGGTGTGGA 0.567000 11 26 0 0 1 0 0 DOPEY2 9980 broad.mit.edu 37 21 37602855 37602855 + Silent SNP C C T rs141312847 TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr21:37602855C>T ENST00000399151.3 + 14 1858 c.1773C>T c.(1771-1773)atC>atT p.I591I NM_005128.2 NP_005119.2 Q9Y3R5 DOP2_HUMAN dopey family member 2 591 endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport Golgi membrane autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 ACAGTGGGATCGGGCTCAGTG 0.522000 56 94 0 0 1 0 0 OR1L3 26735 broad.mit.edu 37 9 125437956 125437956 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr9:125437956C>T ENST00000304820.2 + 1 642 c.548C>T c.(547-549)cCt>cTt p.P183L NM_001005234.1 NP_001005234.1 Q8NH93 OR1L3_HUMAN olfactory receptor, family 1, subfamily L, member 3 183 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 16 GATGTCAACCCTGTGCTGAAA 0.448000 21 232 0 0 1 0 0 MAOA 4128 broad.mit.edu 37 X 43515648 43515648 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chrX:43515648G>A ENST00000338702.3 + 1 182 c.59G>A c.(58-60)gGa>gAa p.G20E MAOA_ENST00000497485.1_3'UTR|MAOA_ENST00000542639.1_5'UTR NM_000240.3 NP_000231.1 P21397 AOFA_HUMAN monoamine oxidase A 20 behavior|neurotransmitter biosynthetic process|neurotransmitter catabolic process|neurotransmitter secretion|xenobiotic metabolic process integral to membrane|mitochondrial outer membrane primary amine oxidase activity|protein binding p.G20E(1) NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 18 Almotriptan(DB00918)|Carbidopa(DB00190)|Clonazepam(DB01068)|Dopamine(DB00988)|Fluvoxamine(DB00176)|Ginkgo biloba(DB01381)|Imipramine(DB00458)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Linezolid(DB00601)|Lorazepam(DB00186)|Moclobemide(DB01171)|Nicotine(DB00184)|Norepinephrine(DB00368)|Phenelzine(DB00780)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Rasagiline(DB01367)|Riboflavin(DB00140)|Rizatriptan(DB00953)|Selegiline(DB01037)|Sumatriptan(DB00669)|Testosterone(DB00624)|Tranylcypromine(DB00752)|Zolmitriptan(DB00315) GTCGTGATCGGAGGTGGCATT 0.602000 14 43 0 0 1 0 0 TERF2IP 54386 broad.mit.edu 37 16 75690133 75690133 + Missense_Mutation SNP T T A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr16:75690133T>A ENST00000300086.4 + 3 921 c.824T>A c.(823-825)aTa>aAa p.I275K NM_018975.3 NP_061848.2 Q9NYB0 TE2IP_HUMAN telomeric repeat binding factor 2, interacting protein 275 Asp/Glu-rich (acidic). negative regulation of DNA recombination at telomere|negative regulation of telomere maintenance|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of double-strand break repair via homologous recombination|telomere maintenance via telomerase|transcription, DNA-dependent cytoplasm|nuclear telomere cap complex|nucleoplasm DNA binding|protein binding central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1) 5 GATTTTGAAATACATATAACT 0.408000 10 57 0 0 1 0 0 IDO1 3620 broad.mit.edu 37 8 39780994 39780994 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr8:39780994C>T ENST00000518237.1 + 7 1183 c.544C>T c.(544-546)Cct>Tct p.P182S RP11-44K6.3_ENST00000517623.1_RNA|IDO1_ENST00000522495.1_Missense_Mutation_p.P182S NM_002164.5 NP_002155.1 P14902 I23O1_HUMAN indoleamine 2,3-dioxygenase 1 182 female pregnancy|tryptophan catabolic process cytosol electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2) 12 L-Tryptophan(DB00150) TTAGGTAATTCCTACTGTATT 0.378000 3 18 0 0 1 0 0 ZNF626 199777 broad.mit.edu 37 19 20807848 20807848 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr19:20807848G>A ENST00000601440.1 - 4 981 c.835C>T c.(835-837)Cat>Tat p.H279Y CTC-513N18.7_ENST00000595094.1_lincRNA NM_001076675.2 NP_001070143.1 Q68DY1 ZN626_HUMAN zinc finger protein 626 279 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|lung(3)|skin(1) 6 TTTTCCGTATGAATTATCTCA 0.383000 12 96 0 0 1 0 0 THRB 7068 broad.mit.edu 37 3 24169111 24169111 + Silent SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr3:24169111C>T ENST00000396671.2 - 10 1371 c.1023G>A c.(1021-1023)ctG>ctA p.L341L THRB_ENST00000416420.1_Silent_p.L341L|THRB_ENST00000356447.4_Silent_p.L341L|THRB_ENST00000280696.5_Silent_p.L356L NM_001128176.2 NP_001121648.1 P10828 THB_HUMAN thyroid hormone receptor, beta 341 Interaction with NR2F6.|Ligand-binding. L -> P (in GTHR). regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3) 19 Levothyroxine(DB00451)|Liothyronine(DB00279) CCCCATTTTTCAGCTGGCCCC 0.537000 19 166 0 0 1 0 0 GK2 2712 broad.mit.edu 37 4 80328097 80328097 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr4:80328097G>A ENST00000358842.3 - 1 1275 c.1258C>T c.(1258-1260)Cgt>Tgt p.R420C NM_033214.2 NP_149991.2 Q14410 GLPK2_HUMAN glycerol kinase 2 420 glycerol-3-phosphate metabolic process mitochondrial outer membrane ATP binding|glycerol kinase activity p.R420C(1) autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 39 TGCAAATGACGAAGTGGAATT 0.393000 40 82 0 0 1 0 0 ABCC3 8714 broad.mit.edu 37 17 48741442 48741442 + Silent SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr17:48741442G>A ENST00000285238.8 + 10 1388 c.1308G>A c.(1306-1308)caG>caA p.Q436Q ABCC3_ENST00000427699.1_Silent_p.Q436Q NM_003786.3 NP_003777.2 O15438 MRP3_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 3 436 ABC transmembrane type-1 1. bile acid metabolic process integral to plasma membrane|membrane fraction ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 BRCA - Breast invasive adenocarcinoma(22;3.05e-09) Glibenclamide(DB01016) CACCCCTGCAGATCATCCTGG 0.557000 48 95 0 0 1 0 0 SPATA17 128153 broad.mit.edu 37 1 217822300 217822300 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:217822300C>T ENST00000366933.4 + 2 200 c.145C>T c.(145-147)Cgg>Tgg p.R49W NM_138796.2 NP_620151.1 Q96L03 SPT17_HUMAN spermatogenesis associated 17 49 IQ 1. cytoplasm calmodulin binding endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117) ATGTCAAGTTCGGGCATATAT 0.308000 20 42 0 0 1 0 0 ADAMDEC1 27299 broad.mit.edu 37 8 24259437 24259437 + Silent SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr8:24259437C>T ENST00000538205.1 + 13 1462 c.915C>T c.(913-915)ttC>ttT p.F305F ADAMDEC1_ENST00000256412.4_Silent_p.F384F|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAMDEC1_ENST00000522298.1_Silent_p.F305F NM_001145271.1 NP_001138743.1 O15204 ADEC1_HUMAN ADAM-like, decysin 1 384 Peptidase M12B. integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis extracellular region|integral to membrane integrin binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1) 9 Prostate(55;0.0181) Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168) GTTCAAAATTCCCAAAGGATT 0.363000 5 49 0 0 1 0 0 ITGB4 3691 broad.mit.edu 37 17 73745120 73745120 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr17:73745120G>A ENST00000200181.3 + 27 3497 c.3310G>A c.(3310-3312)Gac>Aac p.D1104N ITGB4_ENST00000450894.3_Missense_Mutation_p.D1104N|ITGB4_ENST00000449880.2_Missense_Mutation_p.D1104N|ITGB4_ENST00000339591.3_Missense_Mutation_p.D1104N|ITGB4_ENST00000579662.1_Missense_Mutation_p.D1104N NM_000213.3 NP_000204.3 P16144 ITB4_HUMAN integrin, beta 4 1104 cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding cell leading edge|cell surface|hemidesmosome|integrin complex protein binding|receptor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1) 43 all_cancers(13;1.5e-07) all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) CATCATCAGGGACCCAGGTAG 0.617000 12 21 0 0 1 0 0 CCDC30 728621 broad.mit.edu 37 1 43002250 43002250 + Missense_Mutation SNP A A G TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:43002250A>G ENST00000428554.2 + 9 1238 c.95A>G c.(94-96)aAg>aGg p.K32R CCDC30_ENST00000342022.4_Missense_Mutation_p.K32R|CCDC30_ENST00000340612.4_Missense_Mutation_p.K32R|CCDC30_ENST00000507855.1_Intron Q5VVM6 CCD30_HUMAN coiled-coil domain containing 30 32 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2) 30 ACTGCAGAGAAGGCCTTGAAA 0.363000 12 119 0 0 1 0 0 ROBO4 54538 broad.mit.edu 37 11 124765453 124765453 + Silent SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr11:124765453G>A ENST00000306534.3 - 6 1421 c.936C>T c.(934-936)ggC>ggT p.G312G ROBO4_ENST00000533054.1_Silent_p.G167G NM_019055.5 NP_061928.4 Q8WZ75 ROBO4_HUMAN roundabout, axon guidance receptor, homolog 4 (Drosophila) 312 Fibronectin type-III 1. angiogenesis|cell differentiation integral to membrane receptor activity NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3) 76 all_hematologic(175;0.215) Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301) CCCAGTGGAGGCCTCCAAGCT 0.652000 21 36 0 0 1 0 0 NAA40 79829 broad.mit.edu 37 11 63706495 63706495 + Translation_Start_Site SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr11:63706495G>A ENST00000377793.4 + 0 28 NAA40_ENST00000536939.1_3'UTR|NAA40_ENST00000456907.2_De_novo_Start_OutOfFrame|NAA40_ENST00000539656.1_De_novo_Start_OutOfFrame NM_024771.2 NP_079047.2 Q86UY6 NAA40_HUMAN N(alpha)-acetyltransferase 40, NatD catalytic subunit N-acetyltransferase activity NS(1)|endometrium(1)|lung(2)|prostate(1) 5 tgccgccgctgttgcagccac 0.721000 8 9 0 0 1 0 0 HECTD4 283450 broad.mit.edu 37 12 112648052 112648052 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr12:112648052G>A ENST00000550722.1 - 50 7591 c.7196C>T c.(7195-7197)aCc>aTc p.T2399I HECTD4_ENST00000430131.2_Missense_Mutation_p.T2123I|HECTD4_ENST00000377560.5_Missense_Mutation_p.T2373I NM_001109662.3 NP_001103132.3 HECT domain containing E3 ubiquitin protein ligase 4 TCGGGTTTTGGTGTTCTGGAA 0.512000 36 104 0 0 1 0 0 APOH 350 broad.mit.edu 37 17 64212974 64212974 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr17:64212974G>A ENST00000205948.6 - 6 753 c.716C>T c.(715-717)tCt>tTt p.S239F NM_000042.2 NP_000033.2 P02749 APOH_HUMAN apolipoprotein H (beta-2-glycoprotein I) 239 Sushi 4. blood coagulation, intrinsic pathway|negative regulation of angiogenesis|negative regulation of blood coagulation|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of myeloid cell apoptosis|negative regulation of smooth muscle cell apoptosis|plasminogen activation|positive regulation of lipoprotein lipase activity|triglyceride metabolic process|triglyceride transport cell surface|chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle eukaryotic cell surface binding|glycoprotein binding|heparin binding|lipoprotein lipase activator activity|phospholipid binding central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 17 BRCA - Breast invasive adenocarcinoma(6;9.74e-08) GCCATCCAGAGAATATCCATC 0.433000 42 87 0 0 1 0 0 IL36A 27179 broad.mit.edu 37 2 113765571 113765571 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr2:113765571G>A ENST00000259211.6 + 4 838 c.427G>A c.(427-429)Gaa>Aaa p.E143K NM_014440.1 NP_055255.1 Q9UHA7 IL36A_HUMAN interleukin 36, alpha 143 immune response|inflammatory response extracellular space cytokine activity|interleukin-1 receptor binding large_intestine(1)|lung(3)|ovary(2)|skin(1)|stomach(2) 9 CCTTACCCAAGAACTGGGGAA 0.498000 27 58 0 0 1 0 0 CYP2C9 1559 broad.mit.edu 37 10 96707690 96707690 + Nonsense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr10:96707690G>A ENST00000260682.6 + 4 648 c.636G>A c.(634-636)tgG>tgA p.W212* NM_000771.3 NP_000762.2 P11712 CP2C9_HUMAN cytochrome P450, family 2, subfamily C, polypeptide 9 212 exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 Colorectal(252;0.0902) all cancers(201;6.93e-05) Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744) GCAGCCCCTGGATCCAGGTAA 0.348000 27 46 0 0 1 0 0 NIM1K 167359 broad.mit.edu 37 5 43280578 43280578 + Missense_Mutation SNP A A T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr5:43280578A>T ENST00000512796.1 + 4 2557 c.1058A>T c.(1057-1059)gAa>gTa p.E353V NIM1_ENST00000326035.2_Missense_Mutation_p.E353V Q8IY84 NIM1_HUMAN 353 ATP binding|magnesium ion binding|protein serine/threonine kinase activity CTCAAGGAAGAAGAAAATGAG 0.448000 26 143 0 0 1 0 0 CNTRL 11064 broad.mit.edu 37 9 123907182 123907182 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr9:123907182G>A ENST00000373855.1 + 21 3373 c.3113G>A c.(3112-3114)cGa>cAa p.R1038Q CNTRL_ENST00000238341.5_Missense_Mutation_p.R1038Q|CNTRL_ENST00000373847.1_Missense_Mutation_p.R486Q|CNTRL_ENST00000373850.1_Missense_Mutation_p.R486Q Q7Z7A1 CNTRL_HUMAN centriolin 1038 cell division|G2/M transition of mitotic cell cycle centrosome|cytosol protein binding haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3) 20 GATCTCACCCGAGCAGAAGCT 0.527000 24 82 0 0 1 0 0 FBLN7 129804 broad.mit.edu 37 2 112940451 112940451 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr2:112940451C>T ENST00000331203.2 + 6 1025 c.754C>T c.(754-756)Cgt>Tgt p.R252C FBLN7_ENST00000409903.1_Missense_Mutation_p.R252C|FBLN7_ENST00000409450.3_Missense_Mutation_p.R206C|FBLN7_ENST00000409667.3_Intron NM_001128165.1|NM_153214.2 NP_001121637.1|NP_694946.2 Q53RD9 FBLN7_HUMAN fibulin 7 252 EGF-like 2; calcium-binding (Potential). cell adhesion proteinaceous extracellular matrix calcium ion binding|heparin binding p.R252S(1) central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 17 GGGCTCTTACCGTTGCACCTG 0.637000 23 57 0 0 1 0 0 AKAP14 158798 broad.mit.edu 37 X 119054534 119054534 + Silent SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chrX:119054534C>T ENST00000371431.3 + 7 832 c.558C>T c.(556-558)ttC>ttT p.F186F AKAP14_ENST00000491105.1_3'UTR|AKAP14_ENST00000371425.4_Silent_p.F126F|AKAP14_ENST00000371423.2_Silent_p.F127F|AKAP14_ENST00000334356.2_Silent_p.F126F NM_178813.5 NP_848928.1 Q86UN6 AKA28_HUMAN A kinase (PRKA) anchor protein 14 186 cytoplasm endometrium(4)|large_intestine(1)|lung(8) 13 AATATAGTTTCATGGAGTCAT 0.353000 16 43 0 0 1 0 0 PARP8 79668 broad.mit.edu 37 5 50125781 50125781 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr5:50125781C>T ENST00000281631.5 + 22 2377 c.2219C>T c.(2218-2220)tCa>tTa p.S740L PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000514342.2_Missense_Mutation_p.S451L|PARP8_ENST00000505554.1_Missense_Mutation_p.S719L|PARP8_ENST00000514067.2_Missense_Mutation_p.S698L|PARP8_ENST00000503750.2_Missense_Mutation_p.S698L|PARP8_ENST00000505697.2_Missense_Mutation_p.S740L NM_001178056.1|NM_024615.3 NP_001171527.1|NP_078891.2 Q8N3A8 PARP8_HUMAN poly (ADP-ribose) polymerase family, member 8 740 PARP catalytic. intracellular NAD+ ADP-ribosyltransferase activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Lung NSC(810;0.0305)|Breast(144;0.222) TCAAGCATATCATTTGGTTAC 0.353000 13 66 0 0 1 0 0 ZNF554 115196 broad.mit.edu 37 19 2827652 2827652 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr19:2827652C>T ENST00000317243.5 + 3 362 c.164C>T c.(163-165)tCc>tTc p.S55F ZNF554_ENST00000591265.1_Missense_Mutation_p.S55F NM_001102651.1 NP_001096121.1 Q86TJ5 ZN554_HUMAN zinc finger protein 554 55 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1) 23 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) ATGGACTTCTCCCAGGAGGAG 0.537000 17 69 0 0 1 0 0 OR8U1 219417 broad.mit.edu 37 11 56143749 56143749 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr11:56143749C>T ENST00000302270.1 + 1 650 c.650C>T c.(649-651)tCc>tTc p.S217F NM_001005204.1 NP_001005204.1 olfactory receptor, family 8, subfamily U, member 1 NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1) 39 Esophageal squamous(21;0.00448) GTCTTTGTCTCCTACATGTTC 0.488000 28 84 0 0 1 0 0 OR4C3 256144 broad.mit.edu 37 11 48346753 48346753 + Silent SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr11:48346753C>T ENST00000319856.4 + 1 282 c.261C>T c.(259-261)ttC>ttT p.F87F NM_001004702.1 NP_001004702.1 Q8NH37 OR4C3_HUMAN olfactory receptor, family 4, subfamily C, member 3 60 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 32 TGTATTTTTTCCTGGCCAACC 0.453000 10 115 0 0 1 0 0 PIM1 5292 broad.mit.edu 37 6 37139092 37139092 + Silent SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr6:37139092C>T ENST00000373509.5 + 4 805 c.432C>T c.(430-432)gcC>gcT p.A144A NM_001243186.1|NM_002648.3 NP_001230115.1|NP_002639.1 P11309 PIM1_HUMAN pim-1 oncogene 235 Protein kinase. Y -> H (in a colorectal adenocarcinoma sample; somatic mutation). cell cycle|cell proliferation|multicellular organismal development|negative regulation of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|protein autophosphorylation cytoplasm|nucleus|plasma membrane ATP binding|manganese ion binding|protein binding|protein serine/threonine kinase activity|transcription factor binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(17)|large_intestine(4)|lung(3)|prostate(2)|skin(2) 30 OV - Ovarian serous cystadenocarcinoma(102;0.241) Adenosine monophosphate(DB00131) AGGAGCTGGCCCGCAGCTTCT 0.612000 T BCL6 NHL 56 99 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152280647 152280647 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:152280647G>A ENST00000368799.1 - 3 6750 c.6715C>T c.(6715-6717)Cgg>Tgg p.R2239W FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 2239 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTGGATCCCCGGGGCCTGCTT 0.577000 Ichthyosis 41 596 0 0 1 0 0 SLC26A9 115019 broad.mit.edu 37 1 205886448 205886448 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:205886448G>A ENST00000367135.3 - 20 2404 c.2291C>T c.(2290-2292)tCa>tTa p.S764L SLC26A9_ENST00000367134.2_Missense_Mutation_p.S764L|SLC26A9_ENST00000340781.4_Missense_Mutation_p.S764L NM_052934.3 NP_443166.1 Q7LBE3 S26A9_HUMAN solute carrier family 26 (anion exchanger), member 9 764 integral to membrane chloride channel activity|secondary active sulfate transmembrane transporter activity NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5) 52 Breast(84;0.201) BRCA - Breast invasive adenocarcinoma(75;0.0458) GTCCTCCTCTGAGTCGTACAA 0.587000 63 288 0 0 1 0 0 OR9K2 441639 broad.mit.edu 37 12 55524362 55524362 + Silent SNP G G T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr12:55524362G>T ENST00000305377.5 + 1 898 c.810G>T c.(808-810)ctG>ctT p.L270L NM_001005243.1 NP_001005243.1 Q8NGE7 OR9K2_HUMAN olfactory receptor, family 9, subfamily K, member 2 270 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2) 31 GCTCTCACCTGGGAGTTGTGA 0.423000 13 110 0.000151284 0.000152133 1 1 0 MRC2 9902 broad.mit.edu 37 17 60754833 60754833 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr17:60754833C>T ENST00000303375.5 + 12 2440 c.2038C>T c.(2038-2040)Cgg>Tgg p.R680W NM_006039.4 NP_006030.2 Q9UBG0 MRC2_HUMAN mannose receptor, C type 2 680 C-type lectin 4. endocytosis integral to membrane receptor activity|sugar binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3) 53 CACCAAACTCCGGTATTGCTA 0.662000 3 23 0 0 1 0 0 OR7D4 125958 broad.mit.edu 37 19 9325344 9325344 + Missense_Mutation SNP G G A rs149523827 TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr19:9325344G>A ENST00000308682.2 - 1 198 c.170C>T c.(169-171)aCc>aTc p.T57I NM_001005191.2 NP_001005191.1 Q8NG98 OR7D4_HUMAN olfactory receptor, family 7, subfamily D, member 4 57 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1) 26 GTACATGGGGGTGTGGAGGTG 0.557000 48 79 0 0 1 0 0 ZNF354A 6940 broad.mit.edu 37 5 178139311 178139311 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr5:178139311C>T ENST00000335815.2 - 5 1765 c.1568G>A c.(1567-1569)cGa>cAa p.R523Q NM_005649.2 NP_005640.2 O60765 Z354A_HUMAN zinc finger protein 354A 523 regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2) 19 all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536) all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.185) TTCCTCACATCGATATGGTTT 0.388000 28 105 0 0 1 0 0 SLC38A1 81539 broad.mit.edu 37 12 46591825 46591825 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr12:46591825C>T ENST00000398637.5 - 15 1835 c.1141G>A c.(1141-1143)Gaa>Aaa p.E381K SLC38A1_ENST00000552197.1_Missense_Mutation_p.E381K|SLC38A1_ENST00000439706.1_Missense_Mutation_p.E381K|SLC38A1_ENST00000549049.1_Missense_Mutation_p.E381K|SLC38A1_ENST00000546893.1_Missense_Mutation_p.E381K NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3 NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3 Q9H2H9 S38A1_HUMAN solute carrier family 38, member 1 381 cellular nitrogen compound metabolic process|neurotransmitter uptake integral to membrane|plasma membrane sodium:amino acid symporter activity NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2) 23 Lung SC(27;0.137)|Renal(347;0.236) all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344) TTAGCCAGTTCAAATAAAGAT 0.368000 6 23 0 0 1 0 0 OR4E2 26686 broad.mit.edu 37 14 22133644 22133644 + Silent SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr14:22133644C>T ENST00000408935.1 + 1 348 c.348C>T c.(346-348)atC>atT p.I116I NM_001001912.1 NP_001001912.1 Q8NGC2 OR4E2_HUMAN olfactory receptor, family 4, subfamily E, member 2 116 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 15 all_cancers(95;0.00113) Acute lymphoblastic leukemia(2;0.0279) GBM - Glioblastoma multiforme(265;0.0137) TTCTGCTGATCATTGTGGCGT 0.453000 36 138 0 0 1 0 0 NDST4 64579 broad.mit.edu 37 4 115997885 115997885 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr4:115997885C>T ENST00000264363.2 - 2 986 c.308G>A c.(307-309)cGa>cAa p.R103Q NM_022569.1 NP_072091.1 Q9H3R1 NDST4_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 103 Heparan sulfate N-deacetylase 4. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000562) GTACTGAAATCGGCTGGACTC 0.408000 28 53 0 0 1 0 0 SULF2 55959 broad.mit.edu 37 20 46365660 46365660 + Missense_Mutation SNP G G A rs116489181 by1000genomes TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr20:46365660G>A ENST00000359930.4 - 3 1053 c.202C>T c.(202-204)Cgg>Tgg p.R68W SULF2_ENST00000478766.1_5'UTR|SULF2_ENST00000467815.1_Missense_Mutation_p.R68W|SULF2_ENST00000484875.1_Missense_Mutation_p.R68W|SULF2_ENST00000361612.4_Missense_Mutation_p.R68W NM_018837.3 NP_061325.1 Q8IWU5 SULF2_HUMAN sulfatase 2 68 bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 ATGATGCGCCGGGTCTTGTTC 0.637000 25 56 0 0 1 0 0 CASR 846 broad.mit.edu 37 3 121980842 121980842 + Silent SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr3:121980842C>T ENST00000498619.1 + 4 1398 c.960C>T c.(958-960)ttC>ttT p.F320F CASR_ENST00000490131.1_Silent_p.F320F|CASR_ENST00000296154.5_Silent_p.F320F NM_001178065.1 NP_001171536.1 P41180 CASR_HUMAN calcium-sensing receptor 320 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) CCATTGGATTCGCTCTGAAGG 0.577000 20 50 0 0 1 0 0 TLR3 7098 broad.mit.edu 37 4 187004063 187004063 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr4:187004063C>T ENST00000296795.2 + 4 1327 c.1223C>T c.(1222-1224)cCc>cTc p.P408L TLR3_ENST00000504367.1_Missense_Mutation_p.P131L NM_003265.2 NP_003256.1 O15455 TLR3_HUMAN toll-like receptor 3 408 activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane double-stranded RNA binding|transmembrane receptor activity breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 29 all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16) GCTCATTCTCCCTTACACATA 0.373000 12 28 0 0 1 0 0 VRK1 7443 broad.mit.edu 37 14 97319244 97319244 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr14:97319244C>T ENST00000216639.3 + 6 600 c.451C>T c.(451-453)Cgg>Tgg p.R151W NM_003384.2 NP_003375.1 Q99986 VRK1_HUMAN vaccinia related kinase 1 151 Protein kinase. cytoplasm|nucleolus ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(1)|stomach(1) 12 Melanoma(154;0.155) COAD - Colon adenocarcinoma(157;0.234) AAGGTTTTCTCGGAAAACTGT 0.338000 4 37 0 0 1 0 0 KAT2B 8850 broad.mit.edu 37 3 20153262 20153262 + Silent SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr3:20153262C>T ENST00000263754.4 + 6 1481 c.1026C>T c.(1024-1026)atC>atT p.I342I NM_003884.4 NP_003875.3 Q92831 KAT2B_HUMAN K(lysine) acetyltransferase 2B 342 cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter Ada2/Gcn5/Ada3 transcription activator complex|chromatin remodeling complex|PCAF complex cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 40 GAACTCTAATCCTCACTCATT 0.423000 12 36 0 0 1 0 0 LVRN 206338 broad.mit.edu 37 5 115319105 115319105 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr5:115319105C>T ENST00000357872.4 + 2 941 c.817C>T c.(817-819)Ctt>Ttt p.L273F AQPEP_ENST00000395528.2_5'UTR NM_173800.4 NP_776161.3 Q6Q4G3 AMPQ_HUMAN 273 proteolysis integral to membrane metallopeptidase activity|zinc ion binding TTATGTGGCCCTTTCCAACAT 0.368000 20 24 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179528071 179528071 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr2:179528071C>T ENST00000589042.1 - 173 36846 c.36622G>A c.(36622-36624)Gag>Aag p.E12208K TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 10356 Ig-like 81. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTTGGCACCTCTGGGACTTTA 0.418000 26 70 0 0 1 0 0 ANKFN1 162282 broad.mit.edu 37 17 54403620 54403620 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr17:54403620G>A ENST00000566473.2 + 3 101 c.101G>A c.(100-102)aGc>aAc p.S34N ANKFN1_ENST00000318698.2_Missense_Mutation_p.S34N Q8N957 ANKF1_HUMAN ankyrin-repeat and fibronectin type III domain containing 1 34 NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1) 53 CAGAGGCTGAGCCACAGGAGA 0.438000 33 76 0 0 1 0 0 TSHZ1 10194 broad.mit.edu 37 18 72999725 72999725 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr18:72999725C>T ENST00000322038.5 + 2 2812 c.2228C>T c.(2227-2229)cCc>cTc p.P743L TSHZ1_ENST00000580243.1_Missense_Mutation_p.P788L NM_005786.5 NP_005777.3 Q6ZSZ6 TSH1_HUMAN teashirt zinc finger homeobox 1 788 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2) 42 Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211) Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246) CCGGTGTACCCCGCCACCCCT 0.587000 24 32 0 0 1 0 0 C1orf173 127254 broad.mit.edu 37 1 75102049 75102049 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:75102049G>A ENST00000326665.5 - 6 736 c.518C>T c.(517-519)cCt>cTt p.P173L NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 173 NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 TTCTACTGCAGGATTACTGGG 0.418000 30 242 0 0 1 0 0 THSD7B 80731 broad.mit.edu 37 2 137917887 137917887 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr2:137917887G>A ENST00000409968.1 + 6 1652 c.1474G>A c.(1474-1476)Gcc>Acc p.A492T THSD7B_ENST00000413152.2_Missense_Mutation_p.A461T|THSD7B_ENST00000272643.3_Missense_Mutation_p.A492T|THSD7B_ENST00000485379.1_3'UTR|THSD7B_ENST00000543459.1_Intron thrombospondin, type I, domain containing 7B NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) TTCCTGGTCAGCCTGGGGCCT 0.512000 9 61 0 0 1 0 0 FLNB 2317 broad.mit.edu 37 3 58131696 58131696 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr3:58131696C>T ENST00000357272.4 + 33 5639 c.5474C>T c.(5473-5475)tCt>tTt p.S1825F FLNB_ENST00000295956.4_Missense_Mutation_p.S1825F|FLNB_ENST00000429972.2_Missense_Mutation_p.S1814F|FLNB_ENST00000493452.1_Missense_Mutation_p.S1632F|FLNB_ENST00000348383.5_Missense_Mutation_p.S1825F|FLNB_ENST00000358537.3_Missense_Mutation_p.S1801F|FLNB_ENST00000419752.2_Missense_Mutation_p.S1645F|FLNB_ENST00000490882.1_Missense_Mutation_p.S1856F O75369 FLNB_HUMAN filamin B, beta 1825 actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction cell cortex|integral to membrane|nucleus|sarcomere actin binding NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5) 120 BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898) GGAAGTGTTTCTGCATACGGT 0.502000 52 96 0 0 1 0 0 TPO 7173 broad.mit.edu 37 2 1507821 1507821 + Missense_Mutation SNP G G A rs145974595 TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr2:1507821G>A ENST00000345913.4 + 14 2579 c.2488G>A c.(2488-2490)Gag>Aag p.E830K TPO_ENST00000382198.1_Missense_Mutation_p.E657K|TPO_ENST00000337415.3_Missense_Mutation_p.E830K|TPO_ENST00000329066.4_Missense_Mutation_p.E830K|TPO_ENST00000497517.2_3'UTR|TPO_ENST00000382201.3_Missense_Mutation_p.E773K|TPO_ENST00000346956.3_Intron|TPO_ENST00000349624.3_Missense_Mutation_p.E657K NM_000547.5 NP_000538.3 P07202 PERT_HUMAN thyroid peroxidase 830 EGF-like; calcium-binding (Potential). cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) GGACCCCTACGAGTTAGGAGA 0.562000 30 44 0 0 1 0 0 RSRC1 51319 broad.mit.edu 37 3 157920882 157920882 + Silent SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr3:157920882C>T ENST00000295930.3 + 4 504 c.342C>T c.(340-342)ctC>ctT p.L114L RSRC1_ENST00000480820.1_Silent_p.L114L|RSRC1_ENST00000312179.6_Intron|RSRC1_ENST00000475278.2_Silent_p.L114L|RSRC1_ENST00000464171.1_Intron NM_001271838.1|NM_016625.2 NP_001258767.1|NP_057709.2 Q96IZ7 RSRC1_HUMAN arginine/serine-rich coiled-coil 1 114 Arg/Ser-rich. nucleocytoplasmic transport cytoplasm|nuclear speck protein binding cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1) 18 Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575) GACCTCGTCTCCGTTCTCATA 0.403000 3 28 0 0 1 0 0 PCDHB11 56125 broad.mit.edu 37 5 140580499 140580499 + Silent SNP C C A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr5:140580499C>A ENST00000354757.3 + 1 1152 c.1152C>A c.(1150-1152)tcC>tcA p.S384S PCDHB11_ENST00000536699.1_Silent_p.S19S NM_018931.2 NP_061754.1 Q9Y5F2 PCDBB_HUMAN 384 Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TTGTTTGTTCCATTCCGGAAG 0.448000 37 104 9.8876e-21 1.01948e-20 1 1 0 TAF1L 138474 broad.mit.edu 37 9 32632525 32632525 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr9:32632525G>A ENST00000242310.4 - 1 3142 c.3053C>T c.(3052-3054)tCc>tTc p.S1018F NM_153809.2 NP_722516.1 Q8IZX4 TAF1L_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like 1018 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) ATTTTTCAGGGAAAGGCGACG 0.458000 107 131 0 0 1 0 0 FLNB 2317 broad.mit.edu 37 3 58084492 58084492 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr3:58084492C>T ENST00000357272.4 + 8 1367 c.1202C>T c.(1201-1203)aCc>aTc p.T401I FLNB_ENST00000295956.4_Missense_Mutation_p.T401I|FLNB_ENST00000429972.2_Missense_Mutation_p.T401I|FLNB_ENST00000493452.1_Missense_Mutation_p.T232I|FLNB_ENST00000348383.5_Missense_Mutation_p.T401I|FLNB_ENST00000358537.3_Missense_Mutation_p.T401I|FLNB_ENST00000419752.2_Missense_Mutation_p.T232I|FLNB_ENST00000490882.1_Missense_Mutation_p.T401I O75369 FLNB_HUMAN filamin B, beta 401 actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction cell cortex|integral to membrane|nucleus|sarcomere actin binding NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5) 120 BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898) GGGAAGAACACCGTGGAGTTG 0.532000 30 73 0 0 1 0 0 MOCS1 4337 broad.mit.edu 37 6 39880099 39880099 + Missense_Mutation SNP A A C TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr6:39880099A>C ENST00000373186.4 - 7 1027 c.890T>G c.(889-891)tTc>tGc p.F297C MOCS1_ENST00000373188.2_Missense_Mutation_p.F297C|MOCS1_ENST00000432280.2_Missense_Mutation_p.F268C|MOCS1_ENST00000340692.5_Missense_Mutation_p.F297C|MOCS1_ENST00000425303.2_Missense_Mutation_p.F297C|MOCS1_ENST00000308559.7_Missense_Mutation_p.F297C|MOCS1_ENST00000373195.3_Missense_Mutation_p.F210C|MOCS1_ENST00000373175.4_Missense_Mutation_p.F268C NM_005943.5 NP_005934.2 Q9NZB8 MOCS1_HUMAN molybdenum cofactor synthesis 1 297 Molybdenum cofactor biosynthesis protein A. Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cytosol|molybdopterin synthase complex|nucleus 4 iron, 4 sulfur cluster binding|catalytic activity|GTP binding|metal ion binding central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 21 Ovarian(28;0.0355)|Colorectal(47;0.196) CTGGCCTTGGAAGCCAGGGAT 0.547000 46 91 0 0 1 0 0 SEMA3F 6405 broad.mit.edu 37 3 50224047 50224047 + Splice_Site SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr3:50224047C>T ENST00000002829.3 + 18 2299 c.1813_splice c.e18-1 p.A605_splice SEMA3F_ENST00000434342.1_Splice_Site_p.A574_splice|SEMA3F_ENST00000413852.1_Splice_Site_p.A506_splice NM_004186.3 NP_004177.3 Q13275 SEM3F_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F 605 Ig-like C2-type. axon guidance extracellular space|membrane chemorepellent activity|receptor activity central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2) 17 BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688) ACTCTAAAGCCAACAAGAATG 0.617000 21 52 0 0 1 0 0 OR52E8 390079 broad.mit.edu 37 11 5878145 5878145 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr11:5878145G>A ENST00000537935.1 - 1 819 c.788C>T c.(787-789)tCa>tTa p.S263L TRIM5_ENST00000380027.1_Intron NM_001005168.1 NP_001005168.1 Q6IFG1 O52E8_HUMAN olfactory receptor, family 52, subfamily E, member 8 263 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 20 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114) Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGTCAAGAATGAAAAAAATGC 0.428000 19 96 0 0 1 0 0 WNT2B 7482 broad.mit.edu 37 1 113063099 113063099 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:113063099C>T ENST00000369684.4 + 5 1629 c.1144C>T c.(1144-1146)Ccc>Tcc p.P382S WNT2B_ENST00000369686.4_Missense_Mutation_p.P363S|WNT2B_ENST00000256640.5_Missense_Mutation_p.P290S NM_024494.2 NP_078613.1 Q93097 WNT2B_HUMAN wingless-type MMTV integration site family, member 2B 382 chondrocyte differentiation|cornea development in camera-type eye|dorsal/ventral axis specification|forebrain regionalization|hemopoietic stem cell proliferation|iris morphogenesis|lens development in camera-type eye|lung induction|male gonad development|neuron differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix frizzled-2 binding|signal transducer activity breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|stomach(1) 18 Lung SC(450;0.246) all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05) Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) TTGCAAAGCCCCCAAGAAGGC 0.502000 8 20 0 0 1 0 0 RP1 6101 broad.mit.edu 37 8 55537550 55537550 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr8:55537550C>T ENST00000220676.1 + 4 1256 c.1108C>T c.(1108-1110)Cca>Tca p.P370S NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 370 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) GATGAGTTTTCCAGGAAGAAC 0.398000 23 47 0 0 1 0 0 CXorf22 170063 broad.mit.edu 37 X 35994009 35994009 + Missense_Mutation SNP T T A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chrX:35994009T>A ENST00000297866.5 + 15 2758 c.2692T>A c.(2692-2694)Ttt>Att p.F898I NM_152632.3 NP_689845.2 Q6ZTR5 CX022_HUMAN chromosome X open reading frame 22 898 breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3) 44 AGGGATAGCATTTTCTATTTG 0.328000 25 211 0 0 1 0 0 SERPINB11 89778 broad.mit.edu 37 18 61383326 61383326 + RNA SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr18:61383326G>A ENST00000544088.1 + 0 477 SERPINB11_ENST00000382749.5_RNA|SERPINB11_ENST00000538847.1_RNA|SERPINB11_ENST00000489748.1_RNA|SERPINB11_ENST00000536691.1_RNA NM_080475.2 NP_536723.2 Q96P15 SPB11_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene) regulation of proteolysis cytoplasm serine-type endopeptidase inhibitor activity breast(1)|cervix(1)|kidney(1)|lung(3) 6 Esophageal squamous(42;0.129) TGTGGATTTTGAACAGTCTAC 0.343000 6 12 0 0 1 0 0 COL4A4 1286 broad.mit.edu 37 2 227963492 227963492 + Silent SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr2:227963492G>A ENST00000396625.3 - 19 1329 c.1122C>T c.(1120-1122)ttC>ttT p.F374F COL4A4_ENST00000329662.7_Silent_p.F374F NM_000092.4 NP_000083.3 P53420 CO4A4_HUMAN collagen, type IV, alpha 4 374 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 98 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) AGCGGCCAGGGAACCCTGGGT 0.502000 22 44 0 0 1 0 0 OR10R2 343406 broad.mit.edu 37 1 158450321 158450321 + Silent SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:158450321G>A ENST00000368152.1 + 1 654 c.654G>A c.(652-654)gtG>gtA p.V218V RP11-144L1.4_ENST00000419738.1_RNA|RP11-144L1.4_ENST00000426251.1_RNA NM_001004472.1 NP_001004472.1 Q8NGX6 O10R2_HUMAN olfactory receptor, family 10, subfamily R, member 2 218 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.V218V(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 41 all_hematologic(112;0.0378) ACGAATTTGTGATATTCATTT 0.413000 63 221 0 0 1 0 0 NTRK1 4914 broad.mit.edu 37 1 156848954 156848954 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:156848954G>A ENST00000368196.3 + 14 1948 c.1828G>A c.(1828-1830)Gat>Aat p.D610N NTRK1_ENST00000358660.3_Missense_Mutation_p.D613N|NTRK1_ENST00000392302.2_Missense_Mutation_p.D580N|NTRK1_ENST00000524377.1_Missense_Mutation_p.D616N NM_001012331.1 NP_001012331.1 P04629 NTRK1_HUMAN neurotrophic tyrosine kinase, receptor, type 1 616 Protein kinase. activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction endosome|integral to plasma membrane ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 74 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) Imatinib(DB00619) TGGTGGGGAGGATGTGGCTCC 0.632000 T """TPM3, TPR, TFG""" papillary thyroid TSP Lung(10;0.080) 17 48 0 0 1 0 0 ITGB5 3693 broad.mit.edu 37 3 124578242 124578242 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr3:124578242G>A ENST00000296181.4 - 3 504 c.208C>T c.(208-210)Ctt>Ttt p.L70F NM_002213.3 NP_002204.2 P18084 ITB5_HUMAN integrin, beta 5 70 PSI. cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction integrin complex receptor activity breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 30 GBM - Glioblastoma multiforme(114;0.163) TTTTTGACAAGGTTTGCCCTC 0.587000 19 71 0 0 1 0 0 BCAR1 9564 broad.mit.edu 37 16 75276752 75276752 + Silent SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr16:75276752G>A ENST00000546196.1 - 2 1814 c.162C>T c.(160-162)gcC>gcT p.A54A BCAR1_ENST00000393422.2_Silent_p.A101A|BCAR1_ENST00000162330.5_Silent_p.A83A|BCAR1_ENST00000535626.2_Intron|BCAR1_ENST00000542031.2_Silent_p.A81A|BCAR1_ENST00000538440.2_Silent_p.A83A|BCAR1_ENST00000420641.3_Silent_p.A101A|BCAR1_ENST00000418647.3_Silent_p.A129A|BCAR1_ENST00000393420.6_Silent_p.A83A P56945 BCAR1_HUMAN breast cancer anti-estrogen resistance 1 83 SH3. actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway cytosol|focal adhesion|membrane fraction|ruffle protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2) 35 BRCA - Breast invasive adenocarcinoma(221;0.169) GCTGAGGCTGGGCCGGGGTGG 0.692000 22 34 0 0 1 0 0 DLG3 1741 broad.mit.edu 37 X 69673525 69673525 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chrX:69673525G>A ENST00000194900.4 + 9 1579 c.1238G>A c.(1237-1239)gGc>gAc p.G413D DLG3-AS1_ENST00000431103.1_RNA|DLG3_ENST00000374355.3_Missense_Mutation_p.G58D|DLG3-AS1_ENST00000424211.1_RNA|DLG3_ENST00000374360.3_Missense_Mutation_p.G395D Q92796 DLG3_HUMAN discs, large homolog 3 (Drosophila) 395 PDZ 3. axon guidance|negative regulation of cell proliferation|synaptic transmission plasma membrane guanylate kinase activity endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1) 22 Renal(35;0.156) GGCTCCACAGGCCTGGGCTTC 0.567000 8 17 0 0 1 0 0 ADAM29 11086 broad.mit.edu 37 4 175897421 175897421 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr4:175897421G>A ENST00000359240.3 + 5 1415 c.745G>A c.(745-747)Gag>Aag p.E249K ADAM29_ENST00000514159.1_Missense_Mutation_p.E249K|ADAM29_ENST00000445694.1_Missense_Mutation_p.E249K|ADAM29_ENST00000404450.4_Missense_Mutation_p.E249K NM_001278125.1|NM_014269.4 NP_001265054.1|NP_055084.3 Q9UKF5 ADA29_HUMAN ADAM metallopeptidase domain 29 249 Peptidase M12B. proteolysis|spermatogenesis integral to plasma membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2) 93 Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286) ATTTGGTTTGGAGATCTGGAC 0.393000 47 126 0 0 1 0 0 ADCY5 111 broad.mit.edu 37 3 123051503 123051503 + Nonsense_Mutation SNP C C A rs79462429 by1000genomes TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr3:123051503C>A ENST00000462833.1 - 4 2638 c.1426G>T c.(1426-1428)Gag>Tag p.E476* ADCY5_ENST00000491190.1_Nonsense_Mutation_p.E109*|ADCY5_ENST00000309879.5_Nonsense_Mutation_p.E126* NM_183357.2 NP_899200.1 O95622 ADCY5_HUMAN adenylate cyclase 5 476 Guanylate cyclase 1. activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 GBM - Glioblastoma multiforme(114;0.0342) GTGAAGCCCTCGATGTCAGCA 0.532000 9 22 7.48243e-07 7.6012e-07 1 1 0 CNGB1 1258 broad.mit.edu 37 16 58001184 58001184 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr16:58001184C>T ENST00000564448.1 - 2 67 c.7G>A c.(7-9)Ggc>Agc p.G3S CNGB1_ENST00000251102.8_Missense_Mutation_p.G3S|CNGB1_ENST00000311183.4_Missense_Mutation_p.G3S Q14028 CNGB1_HUMAN cyclic nucleotide gated channel beta 1 3 sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 54 TGGACCCAGCCCAACATCCTG 0.582000 5 38 0 0 1 0 0 CLEC3A 10143 broad.mit.edu 37 16 78064434 78064434 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr16:78064434C>T ENST00000299642.4 + 3 402 c.317C>T c.(316-318)tCc>tTc p.S106F CLEC3A_ENST00000575655.1_Missense_Mutation_p.S97F|RP11-281J9.2_ENST00000563114.1_RNA|CLEC3A_ENST00000565808.1_3'UTR NM_001244755.1 NP_001231684.1 O75596 CLC3A_HUMAN C-type lectin domain family 3, member A 97 C-type lectin. skeletal system development extracellular region sugar binding NS(1)|endometrium(2)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(2) 18 GACTGCATTTCCAAAGGAGGA 0.473000 15 56 0 0 1 0 0 DSG3 1830 broad.mit.edu 37 18 29055985 29055985 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr18:29055985C>T ENST00000257189.4 + 16 2845 c.2762C>T c.(2761-2763)tCc>tTc p.S921F NM_001944.2 NP_001935.2 P32926 DSG3_HUMAN desmoglein 3 921 cellular component disassembly involved in apoptosis|homophilic cell adhesion cytosol|desmosome|integral to membrane calcium ion binding p.S921Y(1) breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(10;0.00504) CCAGCTGTTTCCATCCCTGAC 0.502000 17 39 0 0 1 0 0 TRPM2 7226 broad.mit.edu 37 21 45860722 45860722 + Silent SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr21:45860722C>T ENST00000397928.1 + 31 4765 c.4320C>T c.(4318-4320)atC>atT p.I1440I TRPM2_ENST00000397932.2_Silent_p.I1490I|TRPM2_ENST00000300481.9_Silent_p.I1386I|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300482.5_Silent_p.I1440I NM_003307.3 NP_003298.1 O94759 TRPM2_HUMAN transient receptor potential cation channel, subfamily M, member 2 1440 Nudix hydrolase. integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 76 ATGCCTGGATCGAGACGGTGG 0.617000 43 95 0 0 1 0 0 IL21R 50615 broad.mit.edu 37 16 27441414 27441414 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr16:27441414C>T ENST00000337929.3 + 2 495 c.22C>T c.(22-24)Ccc>Tcc p.P8S IL21R_ENST00000564089.1_Missense_Mutation_p.P8S|IL21R_ENST00000395755.1_Missense_Mutation_p.P8S|IL21R_ENST00000395754.4_Missense_Mutation_p.P8S NM_181078.2 NP_851564.1 Q9HBE5 IL21R_HUMAN interleukin 21 receptor 8 natural killer cell activation integral to membrane interleukin-21 receptor activity breast(2)|large_intestine(3)|lung(1)|ovary(2) 8 CTGGGCCGCCCCCTTGCTCCT 0.721000 T BCL6 NHL 6 22 0 0 1 0 0 KIFAP3 22920 broad.mit.edu 37 1 169951956 169951956 + Missense_Mutation SNP A A T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:169951956A>T ENST00000367765.1 - 14 2940 c.1439T>A c.(1438-1440)tTt>tAt p.F480Y KIFAP3_ENST00000361580.2_Missense_Mutation_p.F520Y|KIFAP3_ENST00000538366.1_Missense_Mutation_p.F442Y|KIFAP3_ENST00000540905.1_Missense_Mutation_p.F222Y|KIFAP3_ENST00000367767.1_Missense_Mutation_p.F476Y NM_001204517.1 NP_001191446.1 Q92845 KIFA3_HUMAN kinesin-associated protein 3 520 blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule kinesin binding endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2) 35 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) TTCAATCACAAACTCCTCTTC 0.323000 73 59 0 0 1 0 0 KIAA0232 9778 broad.mit.edu 37 4 6860208 6860208 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr4:6860208C>T ENST00000307659.5 + 6 948 c.493C>T c.(493-495)Cct>Tct p.P165S KIAA0232_ENST00000425103.1_Missense_Mutation_p.P165S NM_014743.2 NP_055558.2 Q92628 K0232_HUMAN KIAA0232 165 ATP binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1) 41 AGAATTATCCCCTCCAGCAAA 0.353000 6 34 0 0 1 0 0 POMT2 29954 broad.mit.edu 37 14 77762534 77762534 + Silent SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr14:77762534G>A ENST00000261534.4 - 9 1291 c.1089C>T c.(1087-1089)ccC>ccT p.P363P NM_013382.5 NP_037514.2 Q9UKY4 POMT2_HUMAN protein-O-mannosyltransferase 2 363 MIR 1. protein O-linked glycosylation endoplasmic reticulum membrane|integral to membrane dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1) 14 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0292) CAATGCCCTCGGGGTAGAGGT 0.577000 4 8 0 0 1 0 0 GHDC 84514 broad.mit.edu 37 17 40343052 40343052 + Missense_Mutation SNP G G A rs140891551 byFrequency TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr17:40343052G>A ENST00000301671.8 - 5 1507 c.1066C>T c.(1066-1068)Cgc>Tgc p.R356C GHDC_ENST00000436923.2_Missense_Mutation_p.R356C|GHDC_ENST00000593209.1_Missense_Mutation_p.R356C|GHDC_ENST00000414034.3_Missense_Mutation_p.R356C|GHDC_ENST00000587427.1_Missense_Mutation_p.R356C|GHDC_ENST00000428494.2_Missense_Mutation_p.R317C Q8N2G8 GHDC_HUMAN GH3 domain containing 356 endoplasmic reticulum|nuclear envelope central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304) BRCA - Breast invasive adenocarcinoma(366;0.124) AGGCTGGCGCGGTCCGTCAGC 0.662000 15 68 0 0 1 0 0 PPP1R3A 5506 broad.mit.edu 37 7 113518303 113518303 + Silent SNP C C T rs150965727 TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr7:113518303C>T ENST00000284601.3 - 4 2912 c.2844G>A c.(2842-2844)acG>acA p.T948T NM_002711.3 NP_002702.2 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory subunit 3A 948 glycogen metabolic process integral to membrane p.T948T(3) NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2) 121 TTTCTGATTTCGTAGAAATAG 0.378000 14 77 0 0 1 0 0 OR10A6 390093 broad.mit.edu 37 11 7949552 7949552 + Nonsense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr11:7949552G>A ENST00000309838.2 - 1 657 c.658C>T c.(658-660)Cga>Tga p.R220* NM_001004461.1 NP_001004461.1 Q8NH74 O10A6_HUMAN olfactory receptor, family 10, subfamily A, member 6 220 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R220*(1) breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 22 Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) AACAGAACTCGAATGTAAGAC 0.433000 26 44 0 0 1 0 0 C7 730 broad.mit.edu 37 5 40937767 40937767 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr5:40937767G>A ENST00000313164.9 + 6 901 c.542G>A c.(541-543)gGa>gAa p.G181E NM_000587.2 NP_000578.2 P10643 CO7_HUMAN complement component 7 181 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular region|membrane attack complex Ovarian(839;0.0112) AGGCTGAGTGGAAATGTCCTG 0.378000 4 18 0 0 1 0 0 KRT222 125113 broad.mit.edu 37 17 38813728 38813728 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr17:38813728C>T ENST00000476049.1 - 5 576 c.535G>A c.(535-537)Gaa>Aaa p.E179K KRT222_ENST00000394052.3_Missense_Mutation_p.E179K Q8N1A0 KT222_HUMAN keratin 222 179 intermediate filament structural molecule activity breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(2)|skin(1) 15 AAAGATATTTCATTTATAATG 0.269000 4 15 0 0 1 0 0 DCHS2 54798 broad.mit.edu 37 4 155180844 155180844 + Silent SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr4:155180844G>A ENST00000357232.3 - 20 5276 c.5277C>T c.(5275-5277)atC>atT p.I1759I NM_017639.3 NP_060109.2 Q6V1P9 PCD23_HUMAN dachsous cadherin-related 2 1759 Cadherin 15. 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) CAGCTAAAACGATGAGTTGAA 0.358000 33 56 0 0 1 0 0 RLTPR 146206 broad.mit.edu 37 16 67679942 67679942 + Silent SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr16:67679942C>T ENST00000334583.6 + 4 536 c.208C>T c.(208-210)Ctg>Ttg p.L70L RLTPR_ENST00000545661.1_Silent_p.L70L NM_001013838.1 NP_001013860.1 Q6F5E8 LR16C_HUMAN RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing 70 breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2) 18 Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232) GTTCAGCTACCTGGAGGTCCA 0.627000 15 52 0 0 1 0 0 GRM7 2917 broad.mit.edu 37 3 7494344 7494344 + Nonsense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr3:7494344C>T ENST00000486284.1 + 6 1499 c.1225C>T c.(1225-1227)Cag>Tag p.Q409* GRM7_ENST00000403881.1_Nonsense_Mutation_p.Q409*|GRM7_ENST00000402647.2_Nonsense_Mutation_p.Q409*|GRM7_ENST00000357716.4_Nonsense_Mutation_p.Q409*|GRM7_ENST00000389336.4_Nonsense_Mutation_p.Q409*|GRM7_ENST00000458641.2_3'UTR NM_181874.2 NP_870989.1 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 409 negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 76 L-Glutamic Acid(DB00142) GGGTAAAGTCCAGTTCGTGAT 0.483000 24 38 0 0 1 0 0 SLCO2B1 11309 broad.mit.edu 37 11 74904307 74904307 + Silent SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr11:74904307C>T ENST00000289575.5 + 9 1515 c.1120C>T c.(1120-1122)Ctg>Ttg p.L374L SLCO2B1_ENST00000525650.1_Silent_p.L230L|SLCO2B1_ENST00000532236.1_Silent_p.L258L|SLCO2B1_ENST00000341411.4_Silent_p.L147L|SLCO2B1_ENST00000428359.2_Silent_p.L352L|SLCO2B1_ENST00000531756.1_Silent_p.L119L|SLCO2B1_ENST00000454962.2_Silent_p.L147L NM_007256.4 NP_009187.1 O94956 SO2B1_HUMAN solute carrier organic anion transporter family, member 2B1 374 sodium-independent organic anion transport integral to membrane sodium-independent organic anion transmembrane transporter activity breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 39 Ergoloid mesylate(DB01049) CCCCATCTTCCTGCTGGTGGT 0.627000 33 60 0 0 1 0 0 MARVELD3 91862 broad.mit.edu 37 16 71674371 71674371 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr16:71674371G>A ENST00000299952.4 + 3 717 c.674G>A c.(673-675)gGa>gAa p.G225E MARVELD3_ENST00000561682.1_Intron|PHLPP2_ENST00000540628.1_Intron|MARVELD3_ENST00000565261.1_3'UTR NM_001017967.2 NP_001017967.2 Q96A59 MALD3_HUMAN MARVEL domain containing 3 225 MARVEL. integral to membrane NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2) 17 Ovarian(137;0.125) GTCCTTGCCGGATTCAGTGCC 0.557000 24 63 0 0 1 0 0 FAM111A 63901 broad.mit.edu 37 11 58920677 58920677 + Silent SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr11:58920677C>T ENST00000528737.1 + 5 4354 c.1536C>T c.(1534-1536)gtC>gtT p.V512V FAM111A_ENST00000420244.1_Silent_p.V512V|FAM111A_ENST00000531147.1_Silent_p.V512V|FAM111A_ENST00000533703.1_Silent_p.V512V|FAM111A_ENST00000361723.3_Silent_p.V512V Q96PZ2 F111A_HUMAN family with sequence similarity 111, member A 512 proteolysis serine-type endopeptidase activity breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 22 all_epithelial(135;0.139) CAGAGTATGTCCATATGTATA 0.428000 29 116 0 0 1 0 0 LRP2 4036 broad.mit.edu 37 2 170066148 170066148 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr2:170066148C>T ENST00000263816.3 - 38 6569 c.6284G>A c.(6283-6285)cGa>cAa p.R2095Q NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 2095 hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding p.R2095Q(2) biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) CAGTGCGTTTCGTCCTGGAAG 0.413000 19 44 0 0 1 0 0 TRBJ2-2 28628 broad.mit.edu 37 7 142494258 142494258 + RNA SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr7:142494258C>T ENST00000390413.1 + 0 15 CACCGGGGAGCTGTTTTTTGG 0.642000 6 33 0 0 1 0 0 CTSE 1510 broad.mit.edu 37 1 206328847 206328847 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:206328847C>T ENST00000361052.3 + 7 1047 c.929C>T c.(928-930)cCc>cTc p.P310L CTSE_ENST00000358184.2_Missense_Mutation_p.P305L|CTSE_ENST00000432969.2_Intron|CTSE_ENST00000360218.2_Intron P14091 CATE_HUMAN cathepsin E 310 antigen processing and presentation of exogenous peptide antigen via MHC class II|digestion|proteolysis endosome aspartic-type endopeptidase activity endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(3) 16 BRCA - Breast invasive adenocarcinoma(75;0.0754) GGGGCAGCCCCCGTGGATGGA 0.612000 13 69 0 0 1 0 0 THSD7B 80731 broad.mit.edu 37 2 137928454 137928454 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr2:137928454G>A ENST00000409968.1 + 7 1847 c.1669G>A c.(1669-1671)Gga>Aga p.G557R THSD7B_ENST00000413152.2_Missense_Mutation_p.G526R|THSD7B_ENST00000272643.3_Missense_Mutation_p.G557R|THSD7B_ENST00000485379.1_3'UTR|THSD7B_ENST00000543459.1_Intron thrombospondin, type I, domain containing 7B p.G526R(1)|p.G557R(1) NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) CCCTGATCATGGAAAATGTGG 0.522000 13 21 0 0 1 0 0 SMARCC2 6601 broad.mit.edu 37 12 56571847 56571847 + Silent SNP G G C rs142117181 by1000genomes TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr12:56571847G>C ENST00000394023.3 - 15 1446 c.1341C>G c.(1339-1341)ccC>ccG p.P447P SMARCC2_ENST00000267064.4_Silent_p.P447P|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000550164.1_Silent_p.P447P|SMARCC2_ENST00000347471.4_Silent_p.P447P NM_001130420.1 NP_001123892.1 Q8TAQ2 SMRC2_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 447 SWIRM. chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex DNA binding|protein binding|transcription coactivator activity breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1) 41 OV - Ovarian serous cystadenocarcinoma(18;0.123) TGAAGAACTCGGGGAGAGCCC 0.512000 7 21 0 0 1 0 0 HSD17B7P2 158160 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 6 52 0 0 1 0 0 MUC2 4583 broad.mit.edu 37 11 1083068 1083068 + Silent SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr11:1083068G>A ENST00000441003.2 + 16 1995 c.1968G>A c.(1966-1968)aaG>aaA p.K656K MUC2_ENST00000359061.5_Silent_p.K656K NM_002457.2 NP_002448.2 Q02817 MUC2_HUMAN mucin 2, oligomeric mucus/gel-forming 656 inner mucus layer|outer mucus layer protein binding NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 102 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) CTGCAGACAAGGATGTGGGCT 0.667000 5 11 0 0 1 0 0 BSN 8927 broad.mit.edu 37 3 49701251 49701251 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr3:49701251G>A ENST00000296452.4 + 8 11654 c.11540G>A c.(11539-11541)gGg>gAg p.G3847E NM_003458.3 NP_003449.2 Q9UPA5 BSN_HUMAN bassoon presynaptic cytomatrix protein 3847 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 106 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) GGCTCTAAAGGGACAGCCAAA 0.582000 31 63 0 0 1 0 0 MFHAS1 9258 broad.mit.edu 37 8 8749494 8749494 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr8:8749494C>T ENST00000276282.6 - 1 1661 c.1075G>A c.(1075-1077)Gac>Aac p.D359N NM_004225.2 NP_004216.2 Q9Y4C4 MFHA1_HUMAN malignant fibrous histiocytoma amplified sequence 1 359 endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1) 21 Hepatocellular(245;0.217) COAD - Colon adenocarcinoma(149;0.124) CCAAAGTGGTCGGGCAGCACC 0.612000 24 70 0 0 1 0 0 TAF1L 138474 broad.mit.edu 37 9 32635183 32635183 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr9:32635183G>A ENST00000242310.4 - 1 484 c.395C>T c.(394-396)cCc>cTc p.P132L RP11-555J4.4_ENST00000430787.1_RNA NM_153809.2 NP_722516.1 Q8IZX4 TAF1L_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like 132 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) GTGGTAAAGGGGCTGCAAGCT 0.483000 63 50 0 0 1 0 0 POTEC 388468 broad.mit.edu 37 18 14542906 14542906 + Silent SNP C C A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr18:14542906C>A ENST00000358970.5 - 1 239 c.240G>T c.(238-240)gtG>gtT p.V80V POTEC_ENST00000389891.4_5'UTR NM_001137671.1 NP_001131143.1 B2RU33 POTEC_HUMAN POTE ankyrin domain family, member C 80 NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 CAGAAGTGCCCACGTTGCTCG 0.587000 18 375 5.01169e-05 5.06826e-05 1 1 0 LRRC37A2 474170 broad.mit.edu 37 17 44626486 44626486 + Silent SNP C C G TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr17:44626486C>G ENST00000576629.1 + 10 4476 c.3981C>G c.(3979-3981)gtC>gtG p.V1327V ARL17A_ENST00000337845.7_Intron|ARL17A_ENST00000573185.1_Intron|LRRC37A2_ENST00000333412.3_Silent_p.V1327V|ARL17A_ENST00000329240.4_Intron|ARL17A_ENST00000445552.2_Intron A6NM11 L37A2_HUMAN leucine rich repeat containing 37, member A2 1327 integral to membrane endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|pancreas(4)|prostate(2) 15 Melanoma(429;0.211) BRCA - Breast invasive adenocarcinoma(366;0.232) GTCCAAAGGTCAGAAAGAAAA 0.448000 76 402 0 0 1 0 0 TLR4 7099 broad.mit.edu 37 9 120476556 120476556 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr9:120476556C>T ENST00000355622.6 + 3 2251 c.2150C>T c.(2149-2151)gCc>gTc p.A717V TLR4_ENST00000394487.4_Missense_Mutation_p.A677V|TLR4_ENST00000472304.1_3'UTR NM_138554.4|NM_138557.2 NP_612564.1|NP_612567.1 O00206 TLR4_HUMAN toll-like receptor 4 717 TIR. activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm lipopolysaccharide receptor activity|transmembrane receptor activity p.A717D(1) breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 103 CCCGGTGTGGCCATTGCTGCC 0.473000 30 56 0 0 1 0 0 PLA2G4A 5321 broad.mit.edu 37 1 186880444 186880444 + Silent SNP A A C TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:186880444A>C ENST00000367466.3 + 7 633 c.481A>C c.(481-483)Aga>Cga p.R161R PLA2G4A_ENST00000442353.2_Intron|PLA2G4A_ENST00000466600.1_3'UTR NM_024420.2 NP_077734.1 P47712 PA24A_HUMAN phospholipase A2, group IVA (cytosolic, calcium-dependent) 161 PLA2c.|Phospholipid binding (Probable). phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation cytosol|endoplasmic reticulum membrane calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1) 53 Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103) CAGACAACAGAGAAAAGAACA 0.423000 30 41 0 0 1 0 0 PSG5 5673 broad.mit.edu 37 19 43680100 43680100 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr19:43680100C>T ENST00000404580.1 - 3 719 c.631G>A c.(631-633)Gaa>Aaa p.E211K PSG5_ENST00000366175.3_Missense_Mutation_p.E211K|PSG5_ENST00000599812.1_Missense_Mutation_p.E304K|PSG5_ENST00000407568.1_Intron|PSG5_ENST00000407356.1_Missense_Mutation_p.E211K|PSG5_ENST00000342951.6_Missense_Mutation_p.E211K Q15238 PSG5_HUMAN pregnancy specific beta-1-glycoprotein 5 211 Ig-like C2-type 1. female pregnancy extracellular region breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Prostate(69;0.00899) GGTCCTGTTTCATTTCTCGTG 0.502000 68 175 0 0 1 0 0 CDCA7 83879 broad.mit.edu 37 2 174223442 174223442 + Silent SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr2:174223442G>A ENST00000306721.3 + 2 127 c.24G>A c.(22-24)caG>caA p.Q8Q CDCA7_ENST00000410101.3_Silent_p.Q8Q|CDCA7_ENST00000347703.3_Silent_p.Q8Q|CDCA7_ENST00000392567.2_Silent_p.Q8Q|CDCA7_ENST00000410019.3_Intron NM_031942.4 NP_114148.3 Q9BWT1 CDCA7_HUMAN cell division cycle associated 7 0 regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1) 18 OV - Ovarian serous cystadenocarcinoma(117;0.116) ATTTGCAGCAGAAAGATCTCA 0.348000 13 28 0 0 1 0 0 RYR1 6261 broad.mit.edu 37 19 38958341 38958341 + Silent SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr19:38958341G>A ENST00000355481.4 + 25 3401 c.3270G>A c.(3268-3270)gaG>gaA p.E1090E RYR1_ENST00000360985.3_Silent_p.E1090E|RYR1_ENST00000359596.3_Silent_p.E1090E NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 1090 6 X approximate repeats.|B30.2/SPRY 2. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) GGTACTTCGAGTTTGAAGCAG 0.587000 41 76 0 0 1 0 0 MPRIP 23164 broad.mit.edu 37 17 17039616 17039616 + Silent SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr17:17039616C>T ENST00000395811.5 + 6 677 c.588C>T c.(586-588)gtC>gtT p.V196V MPRIP_ENST00000444976.1_Silent_p.V196V|MPRIP_ENST00000395804.3_Silent_p.V196V|MPRIP_ENST00000341712.4_Silent_p.V196V NM_015134.3|NM_201274.3 NP_055949.2|NP_958431.2 Q6WCQ1 MPRIP_HUMAN myosin phosphatase Rho interacting protein 196 Interaction with F-actin (By similarity).|Ser-rich. cytoplasm|cytoskeleton actin binding biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 31 CTGAGAAAGTCCCCACCACCA 0.612000 10 21 0 0 1 0 0 SMARCAL1 50485 broad.mit.edu 37 2 217315660 217315660 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr2:217315660C>T ENST00000357276.4 + 12 2273 c.1943C>T c.(1942-1944)tCc>tTc p.S648F SMARCAL1_ENST00000358207.5_Missense_Mutation_p.S648F NM_014140.3 NP_054859.2 Q9NZC9 SMAL1_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 648 chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter nucleus ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1) 42 Renal(323;0.0458) Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111) CGCCTCAAGTCCGACGTCCTT 0.612000 Schimke Immuno-Osseous Dysplasia 32 61 0 0 1 0 0 NAV2 89797 broad.mit.edu 37 11 20089873 20089873 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr11:20089873C>T ENST00000396085.1 + 22 5273 c.4912C>T c.(4912-4914)Cgc>Tgc p.R1638C NAV2_ENST00000540292.1_Missense_Mutation_p.R1625C|NAV2_ENST00000311043.8_Missense_Mutation_p.R702C|NAV2_ENST00000527559.2_Missense_Mutation_p.R1623C|NAV2_ENST00000396087.3_Missense_Mutation_p.R1694C|NAV2_ENST00000349880.4_Missense_Mutation_p.R1638C|NAV2_ENST00000533917.1_Missense_Mutation_p.R702C|NAV2_ENST00000360655.4_Missense_Mutation_p.R1574C NM_182964.5 NP_892009.3 Q8IVL1 NAV2_HUMAN neuron navigator 2 1694 Ser-rich. nucleus ATP binding|helicase activity NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 116 TCTTTAGATTCGCAAGCTGCG 0.483000 25 69 0 0 1 0 0 AQP8 343 broad.mit.edu 37 16 25228656 25228656 + Silent SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr16:25228656C>T ENST00000219660.5 + 2 275 c.150C>T c.(148-150)ttC>ttT p.F50F AQP8_ENST00000566125.1_Silent_p.F44F NM_001169.2 NP_001160.2 O94778 AQP8_HUMAN aquaporin 8 50 cellular response to cAMP integral to plasma membrane water channel activity NS(1)|breast(1)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1) 16 GBM - Glioblastoma multiforme(48;0.044) TCTTCATCTTCATCGGGTGCC 0.642000 61 193 0 0 1 0 0 DOT1L 84444 broad.mit.edu 37 19 2226890 2226890 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr19:2226890C>T ENST00000398665.3 + 27 4406 c.4370C>T c.(4369-4371)tCc>tTc p.S1457F NM_032482.2 NP_115871.1 Q8TEK3 DOT1L_HUMAN DOT1-like histone H3K79 methyltransferase 1457 nucleus DNA binding|histone-lysine N-methyltransferase activity|protein binding NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9) 42 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GCGGCGTCCTCCGCCCAGACG 0.766000 10 12 0 0 1 0 0 GPR89A 653519 broad.mit.edu 37 1 145811903 145811903 + Silent SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:145811903G>A ENST00000313835.9 - 4 449 c.306C>T c.(304-306)atC>atT p.I102I GPR89A_ENST00000534502.1_Silent_p.I77I|GPR89A_ENST00000462900.2_Silent_p.I77I|GPR89A_ENST00000454423.3_5'UTR B7ZAQ6 GPHRA_HUMAN G protein-coupled receptor 89A 102 intracellular pH reduction|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein transport Golgi cisterna membrane|Golgi-associated vesicle membrane|integral to membrane signal transducer activity|voltage-gated anion channel activity breast(1)|large_intestine(3)|lung(1)|skin(1) 6 all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786) KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229) TACGTAGTCGGATATTGCTCA 0.373000 35 188 0 0 1 0 0 MAGEC1 9947 broad.mit.edu 37 X 140994209 140994209 + Missense_Mutation SNP T T C TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chrX:140994209T>C ENST00000285879.4 + 4 1305 c.1019T>C c.(1018-1020)aTt>aCt p.I340T MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 340 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) CTTCTCCAGATTCCTATGACC 0.468000 HNSCC(15;0.026) 23 452 0 0 1 0 0 WDR20 91833 broad.mit.edu 37 14 102606504 102606504 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr14:102606504C>T ENST00000322340.5 + 1 293 c.244C>T c.(244-246)Cgc>Tgc p.R82C WDR20_ENST00000557186.1_3'UTR|WDR20_ENST00000556511.2_Missense_Mutation_p.R82C|WDR20_ENST00000499851.2_5'UTR|WDR20_ENST00000454394.2_Missense_Mutation_p.R82C|WDR20_ENST00000556807.1_Missense_Mutation_p.R82C|WDR20_ENST00000424963.2_Silent_p.S14S|WDR20_ENST00000558567.1_Missense_Mutation_p.R82C|WDR20_ENST00000335263.5_Missense_Mutation_p.R82C|WDR20_ENST00000299135.6_Missense_Mutation_p.R82C|WDR20_ENST00000342702.3_Missense_Mutation_p.R82C NM_001242415.1 NP_001229344.1 Q8TBZ3 WDR20_HUMAN WD repeat domain 20 82 breast(1)|large_intestine(2)|lung(4)|prostate(1) 8 CAAGGGGGTCCGCAAGGTACC 0.662000 10 28 0 0 1 0 0 INHBA 3624 broad.mit.edu 37 7 41729807 41729807 + Missense_Mutation SNP C C G TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr7:41729807C>G ENST00000242208.4 - 3 968 c.722G>C c.(721-723)cGg>cCg p.R241P INHBA_ENST00000464515.1_5'UTR|INHBA_ENST00000442711.1_Missense_Mutation_p.R241P|AC005027.3_ENST00000416150.1_RNA NM_002192.2 NP_002183.1 P08476 INHBA_HUMAN inhibin, beta A 241 cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway activin A complex|inhibin A complex cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 ACAGGCAATCCGAACGTCCAG 0.572000 TSP Lung(11;0.080) 4 59 0 0 1 0 0 SCAND3 114821 broad.mit.edu 37 6 28540752 28540752 + Missense_Mutation SNP C C A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr6:28540752C>A ENST00000452236.2 - 4 3531 c.2914G>T c.(2914-2916)Ggt>Tgt p.G972C NM_052923.1 NP_443155.1 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 972 DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3) 71 gaagctgcaccatcagaacat 0.358000 9 111 7.48243e-07 7.6012e-07 1 1 0 RNF123 63891 broad.mit.edu 37 3 49735512 49735512 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr3:49735512C>T ENST00000327697.6 + 7 569 c.425C>T c.(424-426)tCc>tTc p.S142F RNF123_ENST00000432042.1_5'UTR NM_022064.3 NP_071347.2 Q5XPI4 RN123_HUMAN ring finger protein 123 142 B30.2/SPRY. cytoplasm ligase activity|protein binding|zinc ion binding NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255) GTCCTCATCTCCTCCCAGGGG 0.607000 18 45 0 0 1 0 0 CASR 846 broad.mit.edu 37 3 122002676 122002676 + Silent SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr3:122002676C>T ENST00000498619.1 + 7 2343 c.1905C>T c.(1903-1905)ttC>ttT p.F635F CASR_ENST00000490131.1_Silent_p.F625F|CASR_ENST00000296154.5_Silent_p.F625F NM_001178065.1 NP_001171536.1 P41180 CASR_HUMAN calcium-sensing receptor 625 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) TGGGCATTTTCCTGACAGCCT 0.552000 11 77 0 0 1 0 0 SMC4 10051 broad.mit.edu 37 3 160138668 160138668 + Silent SNP A A C TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr3:160138668A>C ENST00000357388.3 + 13 2449 c.1998A>C c.(1996-1998)gcA>gcC p.A666A SMC4_ENST00000360111.2_Silent_p.A666A|SMC4_ENST00000344722.5_Silent_p.A666A|RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000462787.1_Silent_p.A666A|SMC4_ENST00000469762.1_Silent_p.A641A NM_001002800.1 NP_001002800.1 Q9NTJ3 SMC4_HUMAN structural maintenance of chromosomes 4 666 Flexible hinge. cell division|mitotic chromosome condensation condensin complex|cytoplasm|nucleus ATP binding|protein heterodimerization activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523) TTGGAGTTGCAACCTTTATAG 0.363000 19 24 0 0 1 0 0 AKAP3 10566 broad.mit.edu 37 12 4737001 4737001 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr12:4737001G>A ENST00000545990.2 - 5 1591 c.1067C>T c.(1066-1068)tCg>tTg p.S356L AKAP3_ENST00000228850.1_Missense_Mutation_p.S356L NM_001278309.1 NP_001265238.1 O75969 AKAP3_HUMAN A kinase (PRKA) anchor protein 3 356 acrosome reaction|cellular component movement acrosomal vesicle protein kinase A binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 51 TTTCACAGCCGAGACAAACTG 0.473000 23 60 0 0 1 0 0 ZBTB44 29068 broad.mit.edu 37 11 130130907 130130907 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr11:130130907G>A ENST00000525842.1 - 2 1229 c.862C>T c.(862-864)Cgg>Tgg p.R288W ZBTB44_ENST00000357899.4_Missense_Mutation_p.R288W|ZBTB44_ENST00000530205.1_Missense_Mutation_p.R288W|ZBTB44_ENST00000397753.1_Missense_Mutation_p.R288W NM_014155.4 NP_054874.3 Q8NCP5 ZBT44_HUMAN zinc finger and BTB domain containing 44 288 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2) 15 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;0.0192)|Lung(977;0.235) ACTTTGACCCGGACATCTTCT 0.478000 46 91 0 0 1 0 0 OR5R1 219479 broad.mit.edu 37 11 56185229 56185229 + Silent SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr11:56185229G>A ENST00000312253.1 - 1 479 c.480C>T c.(478-480)acC>acT p.T160T NM_001004744.1 NP_001004744.1 Q8NH85 OR5R1_HUMAN olfactory receptor, family 5, subfamily R, member 1 160 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1) 37 Esophageal squamous(21;0.00448) AAGTGATAACGGTGTGGAAGA 0.453000 32 65 0 0 1 0 0 KCNB1 3745 broad.mit.edu 37 20 47990929 47990929 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr20:47990929C>T ENST00000371741.4 - 2 1334 c.1168G>A c.(1168-1170)Ggg>Agg p.G390R NM_004975.2 NP_004966.1 Q14721 KCNB1_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 1 390 energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1) 53 BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) ACAATTTTCCCCAGGAGAGTC 0.507000 7 78 0 0 1 0 0 NPIPB15 440348 broad.mit.edu 37 16 74425410 74425410 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr16:74425410C>T ENST00000429990.1 + 7 860 c.764C>T c.(763-765)tCt>tTt p.S255F nuclear pore complex interacting protein family, member B15 CAACAACATTCTATAACTGAT 0.502000 20 130 0 0 1 0 0 SMARCD2 6603 broad.mit.edu 37 17 61914872 61914872 + Silent SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr17:61914872G>A ENST00000448276.2 - 2 595 c.330C>T c.(328-330)acC>acT p.T110T SMARCD2_ENST00000225742.9_Silent_p.T35T|SMARCD2_ENST00000323347.10_Silent_p.T62T NM_001098426.1 NP_001091896.1 Q92925 SMRD2_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2 110 Pro-rich. chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent SWI/SNF complex protein binding|transcription coactivator activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1) 8 GATCCATCATGGTGGGTGGCA 0.647000 6 116 0 0 1 0 0 VWA3B 200403 broad.mit.edu 37 2 98887257 98887257 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr2:98887257G>A ENST00000477737.1 + 22 3160 c.2956G>A c.(2956-2958)Gaa>Aaa p.E986K VWA3B_ENST00000490947.2_3'UTR NM_144992.4 NP_659429.4 Q502W6 VWA3B_HUMAN von Willebrand factor A domain containing 3B 986 NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 GCTGGAAAGTGAAATCCTAGC 0.473000 55 88 0 0 1 0 0 ITGA7 3679 broad.mit.edu 37 12 56092216 56092216 + Silent SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr12:56092216G>A ENST00000257880.7 - 8 1494 c.1275C>T c.(1273-1275)ttC>ttT p.F425F ITGA7_ENST00000555728.1_Silent_p.F425F|ITGA7_ENST00000553804.1_Silent_p.F385F|ITGA7_ENST00000347027.6_Silent_p.F381F|ITGA7_ENST00000394229.2_Silent_p.F381F|ITGA7_ENST00000452168.2_Silent_p.F288F|ITGA7_ENST00000394230.2_Silent_p.F385F|ITGA7_ENST00000257879.6_Silent_p.F381F Q13683 ITA7_HUMAN integrin, alpha 7 425 cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape integrin complex receptor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 GGCTGATCCCGAACATGGAGT 0.622000 15 25 0 0 1 0 0 PCDHGA2 56113 broad.mit.edu 37 5 140720260 140720260 + Silent SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr5:140720260C>T ENST00000394576.2 + 1 1722 c.1722C>T c.(1720-1722)ggC>ggT p.G574G PCDHGA1_ENST00000517417.1_Intron NM_018915.2 NP_061738.1 p.G574G(2) breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTTCCACTGGCGTGGAGCTGG 0.627000 35 236 0 0 1 0 0 MYO5C 55930 broad.mit.edu 37 15 52504022 52504022 + Missense_Mutation SNP A A T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr15:52504022A>T ENST00000261839.7 - 35 4362 c.4201T>A c.(4201-4203)Ttc>Atc p.F1401I NM_018728.3 NP_061198.2 Q9NQX4 MYO5C_HUMAN myosin VC 1401 myosin complex actin binding|ATP binding|calmodulin binding|motor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 all cancers(107;0.0137) ACACACATGAACAGGATATGA 0.532000 43 108 0 0 1 0 0 EYA1 2138 broad.mit.edu 37 8 72127898 72127898 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr8:72127898C>T ENST00000340726.3 - 15 2065 c.1426G>A c.(1426-1428)Gac>Aac p.D476N EYA1_ENST00000388743.2_Missense_Mutation_p.D475N|EYA1_ENST00000303824.7_Missense_Mutation_p.D470N|EYA1_ENST00000388742.4_Missense_Mutation_p.D476N|EYA1_ENST00000388741.2_Missense_Mutation_p.D442N|EYA1_ENST00000388740.3_Missense_Mutation_p.D443N|EYA1_ENST00000419131.1_Missense_Mutation_p.D441N NM_000503.4 NP_000494.2 Q99502 EYA1_HUMAN eyes absent homolog 1 (Drosophila) 476 double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 44 Breast(64;0.046) Epithelial(68;0.0837)|all cancers(69;0.247) AACCAGGAGTCGGTCAGGGCT 0.547000 50 48 0 0 1 0 0 MAGEB16 139604 broad.mit.edu 37 X 35820439 35820439 + Silent SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chrX:35820439C>T ENST00000399989.1 + 2 405 c.126C>T c.(124-126)tcC>tcT p.S42S MAGEB16_ENST00000399985.1_Silent_p.S42S|MAGEB16_ENST00000399987.1_Silent_p.S42S|MAGEB16_ENST00000399992.1_Silent_p.S74S|MAGEB16_ENST00000399988.1_Silent_p.S42S NM_001099921.1 NP_001093391.1 A2A368 MAGBG_HUMAN melanoma antigen family B, 16 42 breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 31 TCTCCTCCTCCCATCCTCTAG 0.552000 21 22 0 0 1 0 0 SLC45A4 57210 broad.mit.edu 37 8 142221765 142221765 + Missense_Mutation SNP G G A rs151336979 TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr8:142221765G>A ENST00000024061.3 - 8 2480 c.2173C>T c.(2173-2175)Cgt>Tgt p.R725C SLC45A4_ENST00000519067.1_3'UTR|SLC45A4_ENST00000433583.2_Missense_Mutation_p.S720L|SLC45A4_ENST00000517878.1_Missense_Mutation_p.S778L NM_001080431.1 NP_001073900.1 Q5BKX6 S45A4_HUMAN solute carrier family 45, member 4 0 transport integral to membrane breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 31 all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0493) CCAATGTGACGAGATCTGACA 0.363000 9 66 0 0 1 0 0 CACNA1C 775 broad.mit.edu 37 12 2595325 2595325 + Silent SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr12:2595325C>T ENST00000399655.1 + 6 1078 c.813C>T c.(811-813)atC>atT p.I271I CACNA1C_ENST00000399644.1_Silent_p.I271I|CACNA1C_ENST00000347598.4_Silent_p.I271I|CACNA1C_ENST00000344100.3_Silent_p.I271I|CACNA1C_ENST00000399637.1_Silent_p.I271I|CACNA1C_ENST00000406454.3_Silent_p.I271I|CACNA1C_ENST00000399603.1_Silent_p.I271I|CACNA1C_ENST00000399606.1_Silent_p.I271I|CACNA1C_ENST00000399634.1_Silent_p.I271I|CACNA1C_ENST00000399649.1_Silent_p.I271I|CACNA1C_ENST00000399601.1_Silent_p.I271I|CACNA1C_ENST00000399597.1_Silent_p.I271I|CACNA1C_ENST00000399629.1_Silent_p.I271I|CACNA1C_ENST00000399638.1_Silent_p.I271I|CACNA1C_ENST00000399591.1_Silent_p.I271I|CACNA1C_ENST00000480911.1_Silent_p.I271I|CACNA1C_ENST00000399595.1_Silent_p.I271I|CACNA1C_ENST00000399641.1_Silent_p.I271I|CACNA1C_ENST00000399617.1_Silent_p.I271I|CACNA1C_ENST00000399621.1_Silent_p.I271I|CACNA1C_ENST00000335762.5_Silent_p.I271I|CACNA1C_ENST00000327702.7_Silent_p.I271I|CACNA1C_ENST00000402845.3_Silent_p.I271I NM_000719.6|NM_001129829.1|NM_001129834.1 NP_000710.5|NP_001123301.1|NP_001123306.1 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, alpha 1C subunit 271 axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4) 132 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) TGCTGCACATCGCCCTGCTTG 0.562000 11 18 0 0 1 0 0 SLC16A2 6567 broad.mit.edu 37 X 73641371 73641371 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chrX:73641371G>A ENST00000276033.5 + 1 287 c.121G>A c.(121-123)Ggc>Agc p.G41S SLC16A2_ENST00000587091.1_5'UTR P36021 MOT8_HUMAN solute carrier family 16, member 2 (thyroid hormone transporter) 0 integral to plasma membrane|membrane fraction monocarboxylic acid transmembrane transporter activity|symporter activity breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2) 21 Pyruvic acid(DB00119) cagcggcagcggcagcagcag 0.706000 2 5 0 0 1 0 0 KRTAP5-3 387266 broad.mit.edu 37 11 1629362 1629362 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr11:1629362C>T ENST00000399685.1 - 1 331 c.254G>A c.(253-255)gGg>gAg p.G85E NM_001012708.2 NP_001012726.1 Q6L8H2 KRA53_HUMAN keratin associated protein 5-3 85 11 X 4 AA repeats of C-C-X-P. keratin filament endometrium(1)|large_intestine(2)|lung(3)|ovary(2) 8 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822) GCCACAGCCCCCCTTGGAGCC 0.667000 61 99 0 0 1 0 0 CCDC174 51244 broad.mit.edu 37 3 14712409 14712409 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr3:14712409C>T ENST00000383794.3 + 11 1185 c.1112C>T c.(1111-1113)tCc>tTc p.S371F CCDC174_ENST00000476763.1_3'UTR|CCDC174_ENST00000303688.7_Missense_Mutation_p.S295F NM_016474.4 NP_057558.3 coiled-coil domain containing 174 CCAGAATTTTCCTTTGGATAC 0.368000 7 49 0 0 1 0 0 ANK3 288 broad.mit.edu 37 10 61830807 61830807 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr10:61830807C>T ENST00000280772.1 - 37 10023 c.9832G>A c.(9832-9834)Gag>Aag p.E3278K ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 3278 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 ATGTCAACCTCTTTTTCTGGG 0.463000 60 76 0 0 1 0 0 ARMC4 55130 broad.mit.edu 37 10 28224135 28224135 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr10:28224135C>T ENST00000305242.5 - 16 2391 c.2299G>A c.(2299-2301)Gat>Aat p.D767N ARMC4_ENST00000537576.1_Missense_Mutation_p.D459N|ARMC4_ENST00000545014.1_Missense_Mutation_p.D292N NM_018076.2 NP_060546.2 Q5T2S8 ARMC4_HUMAN armadillo repeat containing 4 767 binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3) 75 TCAGGCTGATCTGTTAGAAGT 0.428000 20 60 0 0 1 0 0 SIMC1 375484 broad.mit.edu 37 5 175716691 175716691 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr5:175716691G>A ENST00000443967.1 + 4 514 c.107G>A c.(106-108)aGg>aAg p.R36K SIMC1_ENST00000341199.6_Intron|SIMC1_ENST00000429602.2_Missense_Mutation_p.R55K|SIMC1_ENST00000503595.1_3'UTR|SIMC1_ENST00000430704.2_Intron SUMO-interacting motifs containing 1 ACCAGACCAAGGACAAAAGAT 0.413000 6 23 0 0 1 0 0 GRIN2A 2903 broad.mit.edu 37 16 9862753 9862753 + Silent SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr16:9862753C>T ENST00000396573.2 - 13 2859 c.2550G>A c.(2548-2550)acG>acA p.T850T GRIN2A_ENST00000396575.2_Silent_p.T850T|GRIN2A_ENST00000535259.1_Silent_p.T693T|GRIN2A_ENST00000330684.3_Silent_p.T850T|GRIN2A_ENST00000562109.1_Silent_p.T850T|GRIN2A_ENST00000404927.2_Silent_p.T850T NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 850 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding p.T850T(1) NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) AGCACACGCCCGTGAAACAGA 0.577000 47 88 0 0 1 0 0 KIAA0100 9703 broad.mit.edu 37 17 26958620 26958620 + Silent SNP G G A rs76379991 TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr17:26958620G>A ENST00000528896.2 - 23 4250 c.4176C>T c.(4174-4176)caC>caT p.H1392H KIAA0100_ENST00000544884.1_Silent_p.H1249H|KIAA0100_ENST00000389003.3_Silent_p.H1249H NM_014680.3 NP_055495.2 Q14667 K0100_HUMAN KIAA0100 1392 extracellular region breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3) 68 Lung NSC(42;0.00431) AGGCCATCAGGTGAACGGTCA 0.532000 18 34 0 0 1 0 0 GRIA2 2891 broad.mit.edu 37 4 158224761 158224761 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr4:158224761C>T ENST00000296526.7 + 3 612 c.287C>T c.(286-288)tCt>tTt p.S96F GRIA2_ENST00000449365.1_Missense_Mutation_p.S49F|GRIA2_ENST00000507898.1_Missense_Mutation_p.S49F|GRIA2_ENST00000393815.2_Missense_Mutation_p.S49F|GRIA2_ENST00000504801.1_3'UTR|GRIA2_ENST00000264426.9_Missense_Mutation_p.S96F NM_000826.3 NP_000817.2 P42262 GRIA2_HUMAN glutamate receptor, ionotropic, AMPA 2 96 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.0294) L-Glutamic Acid(DB00142) GACAAGAAGTCTGTAAATACC 0.393000 54 88 0 0 1 0 0 TCF20 6942 broad.mit.edu 37 22 42605941 42605941 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr22:42605941G>A ENST00000359486.3 - 1 5507 c.5371C>T c.(5371-5373)Cgc>Tgc p.R1791C TCF20_ENST00000335626.4_Missense_Mutation_p.R1791C|TCF20_ENST00000404876.1_Missense_Mutation_p.R92C NM_005650.1 NP_005641.1 Q9UGU0 TCF20_HUMAN transcription factor 20 (AR1) 1791 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5) 66 TCTTCCGAGCGGTGGCGCCGC 0.597000 48 254 0 0 1 0 0 DDX53 168400 broad.mit.edu 37 X 23019901 23019901 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chrX:23019901C>T ENST00000327968.5 + 1 1815 c.1727C>T c.(1726-1728)tCg>tTg p.S576L RP11-40F8.2_ENST00000455399.1_RNA NM_182699.3 NP_874358.2 Q86TM3 DDX53_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 53 576 Helicase C-terminal. nucleus ATP binding|ATP-dependent helicase activity|RNA binding p.S576L(1) breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2) 35 CAGAGAGATTCGAAAATGGCC 0.413000 26 113 0 0 1 0 0 KDELC1 79070 broad.mit.edu 37 13 103438659 103438659 + Missense_Mutation SNP G G C TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr13:103438659G>C ENST00000376004.4 - 9 1750 c.1414C>G c.(1414-1416)Caa>Gaa p.Q472E KDELC1_ENST00000460338.1_5'UTR NM_024089.2 NP_076994.2 Q6UW63 KDEL1_HUMAN KDEL (Lys-Asp-Glu-Leu) containing 1 472 endoplasmic reticulum lumen central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1) 19 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211) TCTCGGATTTGGGGCTCACTC 0.423000 46 88 0 0 1 0 0 MYL2 4633 broad.mit.edu 37 12 111356938 111356938 + Silent SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr12:111356938G>A ENST00000228841.8 - 2 110 c.63C>T c.(61-63)ttC>ttT p.F21F MYL2_ENST00000548438.1_Silent_p.F21F NM_000432.3 NP_000423.2 P10916 MLRV_HUMAN myosin, light chain 2, regulatory, cardiac, slow 21 cardiac myofibril assembly|heart contraction|muscle filament sliding|negative regulation of cell growth|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis cytosol|myosin complex|sarcomere actin monomer binding|calcium ion binding|myosin heavy chain binding|structural constituent of muscle endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1) 12 GGGTCTGTTCGAACATGGAGA 0.507000 5 36 0 0 1 0 0 PIK3R1 5295 broad.mit.edu 37 5 67591097 67591097 + Missense_Mutation SNP A A G TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr5:67591097A>G ENST00000521381.1 + 13 2306 c.1690A>G c.(1690-1692)Aac>Gac p.N564D PIK3R1_ENST00000396611.1_Missense_Mutation_p.N564D|PIK3R1_ENST00000274335.5_Missense_Mutation_p.N564D|PIK3R1_ENST00000320694.8_Missense_Mutation_p.N264D|PIK3R1_ENST00000336483.5_Missense_Mutation_p.N294D|PIK3R1_ENST00000523872.1_Missense_Mutation_p.N201D|PIK3R1_ENST00000521657.1_Missense_Mutation_p.N564D NM_181523.2 NP_852664.1 P27986 P85A_HUMAN phosphoinositide-3-kinase, regulatory subunit 1 (alpha) 564 epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex 1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding p.N564D(4)|p.D560_S565del(1)|p.0?(1)|p.?(1) breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 178 Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176) OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211) Isoproterenol(DB01064) CAAACGTATGAACAGCATTAA 0.373000 """Mis, F, O""" """gliobastoma, ovarian, colorectal""" TCGA GBM(4;<1E-08) 26 84 0 0 1 0 0 ZFPM2 23414 broad.mit.edu 37 8 106814775 106814775 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr8:106814775C>T ENST00000407775.2 + 8 2715 c.2465C>T c.(2464-2466)tCc>tTc p.S822F RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000520492.1_Missense_Mutation_p.S690F|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.S553F|ZFPM2_ENST00000517361.1_Missense_Mutation_p.S690F|RP11-152P17.2_ENST00000524045.2_RNA NM_012082.3 NP_036214.2 Q8WW38 FOG2_HUMAN zinc finger protein, FOG family member 2 822 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) TCCAGTGTTTCCTGCCTAGAG 0.453000 6 6 0 0 1 0 0 HIC2 23119 broad.mit.edu 37 22 21800972 21800972 + Silent SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr22:21800972C>T ENST00000443632.2 + 2 2160 c.1788C>T c.(1786-1788)ggC>ggT p.G596G HIC2_ENST00000407598.2_Silent_p.G596G|HIC2_ENST00000407464.2_Silent_p.G596G Q96JB3 HIC2_HUMAN hypermethylated in cancer 2 596 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent focal adhesion|nucleus DNA binding|protein C-terminus binding|zinc ion binding NS(1)|endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 16 Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968) Lung SC(17;0.0262)|all_lung(157;0.205) TGTGCGGGGGCAAGTTCACCC 0.647000 9 126 0 0 1 0 0 ACTL6B 51412 broad.mit.edu 37 7 100244235 100244235 + Missense_Mutation SNP T T C TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr7:100244235T>C ENST00000160382.5 - 12 1158 c.1052A>G c.(1051-1053)aAc>aGc p.N351S NM_016188.4 NP_057272.1 O94805 ACL6B_HUMAN actin-like 6B 351 chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nBAF complex|SWI/SNF complex ATP binding|protein binding|structural constituent of cytoskeleton endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1) 13 Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817) CAGCAGTGTGTTCCCGCCGGT 0.652000 8 48 0 0 1 0 0 TNFRSF10D 8793 broad.mit.edu 37 8 23002101 23002101 + Silent SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr8:23002101C>T ENST00000312584.3 - 7 910 c.816G>A c.(814-816)gaG>gaA p.E272E NM_003840.4 NP_003831.2 Q9UBN6 TR10D_HUMAN tumor necrosis factor receptor superfamily, member 10d, decoy with truncated death domain 272 anti-apoptosis|apoptosis integral to membrane TRAIL binding|transmembrane receptor activity endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 9 Prostate(55;0.0421)|Breast(100;0.067) Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612) GGGCATTGTCCTCCGCCCCAG 0.587000 29 46 0 0 1 0 0 DENND2C 163259 broad.mit.edu 37 1 115168201 115168201 + Silent SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:115168201C>T ENST00000393274.1 - 4 1030 c.405G>A c.(403-405)gaG>gaA p.E135E DENND2C_ENST00000393276.3_Silent_p.E135E|DENND2C_ENST00000393277.1_Silent_p.E135E NM_001256404.1 NP_001243333.1 Q68D51 DEN2C_HUMAN DENN/MADD domain containing 2C 135 NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3) 37 all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) GTAATGAAGTCTCTGGATCTA 0.363000 10 50 0 0 1 0 0 NLRP2 55655 broad.mit.edu 37 19 55496482 55496482 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr19:55496482G>A ENST00000543010.1 + 7 2241 c.2098G>A c.(2098-2100)Gat>Aat p.D700N NLRP2_ENST00000538819.1_Missense_Mutation_p.D676N|NLRP2_ENST00000537859.1_Missense_Mutation_p.D678N|NLRP2_ENST00000339757.7_Missense_Mutation_p.D678N|NLRP2_ENST00000263437.6_Missense_Mutation_p.D697N|NLRP2_ENST00000448584.2_Missense_Mutation_p.D700N|NLRP2_ENST00000391721.4_Missense_Mutation_p.D676N|NLRP2_ENST00000427260.2_Missense_Mutation_p.D677N NM_001174081.1 NP_001167552.1 Q9NX02 NALP2_HUMAN NLR family, pyrin domain containing 2 700 apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion cytoplasm ATP binding|Pyrin domain binding large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 11 BRCA - Breast invasive adenocarcinoma(297;0.163) GBM - Glioblastoma multiforme(193;0.028) ATCAAATAAGGATCTGATGGG 0.443000 34 114 0 0 1 0 0 TBC1D10C 374403 broad.mit.edu 37 11 67174417 67174417 + Silent SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr11:67174417C>T ENST00000312390.5 + 8 797 c.768C>T c.(766-768)ttC>ttT p.F256F TBC1D10C_ENST00000542590.1_Silent_p.F256F|TBC1D10C_ENST00000526387.1_Intron NM_198517.3 NP_940919.1 Q8IV04 TB10C_HUMAN TBC1 domain family, member 10C 256 Rab-GAP TBC. intracellular Rab GTPase activator activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 16 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) CCGAGTGGTTCCTGTGCCTCT 0.682000 53 181 0 0 1 0 0 ARHGAP25 9938 broad.mit.edu 37 2 69049603 69049603 + Silent SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr2:69049603C>T ENST00000295381.3 + 10 1748 c.1329C>T c.(1327-1329)ctC>ctT p.L443L ARHGAP25_ENST00000409202.3_Silent_p.L444L|ARHGAP25_ENST00000409220.1_Silent_p.L437L|ARHGAP25_ENST00000409030.3_Silent_p.L436L|ARHGAP25_ENST00000467265.1_Silent_p.L404L|ARHGAP25_ENST00000479844.1_Silent_p.L137L NM_001007231.2 NP_001007232.2 P42331 RHG25_HUMAN Rho GTPase activating protein 25 443 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1) 52 CTCAAACACTCCCTAACCGGA 0.483000 50 111 0 0 1 0 0 BRWD1 54014 broad.mit.edu 37 21 40604331 40604331 + Missense_Mutation SNP T T C TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr21:40604331T>C ENST00000342449.3 - 24 2938 c.2860A>G c.(2860-2862)Aaa>Gaa p.K954E BRWD1_ENST00000380800.3_Missense_Mutation_p.K954E|BRWD1_ENST00000333229.2_Missense_Mutation_p.K954E NM_033656.3 NP_387505.1 Q9NSI6 BRWD1_HUMAN bromodomain and WD repeat domain containing 1 954 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2) 58 Prostate(19;8.44e-08)|all_epithelial(19;0.223) AAAGGAGATTTTCTAAGTGTG 0.348000 30 38 0 0 1 0 0 MAGEC1 9947 broad.mit.edu 37 X 140994197 140994197 + Missense_Mutation SNP C C G TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chrX:140994197C>G ENST00000285879.4 + 4 1293 c.1007C>G c.(1006-1008)tCt>tGt p.S336C MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 336 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) TTTCCCCAGTCTCTTCTCCAG 0.463000 HNSCC(15;0.026) 23 465 0 0 1 0 0 CHST8 64377 broad.mit.edu 37 19 34263944 34263944 + Silent SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr19:34263944C>T ENST00000262622.3 + 4 2009 c.1251C>T c.(1249-1251)tcC>tcT p.S417S CHST8_ENST00000438847.2_Silent_p.S417S|CHST8_ENST00000434302.1_Silent_p.S417S NM_022467.3 NP_071912.2 Q9H2A9 CHST8_HUMAN carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8 417 carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process Golgi membrane|integral to membrane N-acetylgalactosamine 4-O-sulfotransferase activity NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5) 27 Esophageal squamous(110;0.162) TCAACTATTCCAAGCCCTTTG 0.622000 13 24 0 0 1 0 0 CSRNP2 81566 broad.mit.edu 37 12 51458059 51458059 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr12:51458059G>A ENST00000228515.1 - 5 1399 c.1102C>T c.(1102-1104)Ccc>Tcc p.P368S NM_030809.2 NP_110436.1 Q9H175 CSRN2_HUMAN cysteine-serine-rich nuclear protein 2 368 apoptosis|positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1) 14 AGCTCTTCGGGGACAGCCAGA 0.612000 25 68 0 0 1 0 0 SLC25A48 153328 broad.mit.edu 37 5 135207534 135207534 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr5:135207534C>T ENST00000274513.5 + 5 978 c.806C>T c.(805-807)tCt>tTt p.S269F SLC25A48_ENST00000420621.1_Intron|SLC25A48_ENST00000433282.2_Intron|SLC25A48_ENST00000412661.2_Intron|SLC25A48_ENST00000425402.1_Intron Q6ZT89 S2548_HUMAN solute carrier family 25, member 48 0 transmembrane transport integral to membrane|mitochondrial inner membrane binding NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1) 10 CCCAACAATTCTTTGTTAGGT 0.562000 14 12 0 0 1 0 0 MAGEB16 139604 broad.mit.edu 37 X 35820627 35820627 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chrX:35820627C>T ENST00000399989.1 + 2 593 c.314C>T c.(313-315)cCc>cTc p.P105L MAGEB16_ENST00000399985.1_Missense_Mutation_p.P105L|MAGEB16_ENST00000399987.1_Missense_Mutation_p.P105L|MAGEB16_ENST00000399992.1_Missense_Mutation_p.P137L|MAGEB16_ENST00000399988.1_Missense_Mutation_p.P105L NM_001099921.1 NP_001093391.1 A2A368 MAGBG_HUMAN melanoma antigen family B, 16 105 breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 31 ACATCAGACCCCAGGAATGTG 0.468000 4 38 0 0 1 0 0 IL17RD 54756 broad.mit.edu 37 3 57143616 57143616 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr3:57143616G>A ENST00000296318.7 - 5 587 c.499C>T c.(499-501)Cct>Tct p.P167S IL17RD_ENST00000463523.1_Missense_Mutation_p.P23S|IL17RD_ENST00000427856.2_Missense_Mutation_p.P143S|IL17RD_ENST00000320057.5_Missense_Mutation_p.P23S NM_017563.3 NP_060033.3 Q8NFM7 I17RD_HUMAN interleukin 17 receptor D 167 Golgi membrane|integral to membrane|plasma membrane receptor activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1) 16 KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204) TTAATGGAAGGAAAAGGGACA 0.408000 21 61 0 0 1 0 0 MAN1C1 57134 broad.mit.edu 37 1 26073252 26073252 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:26073252G>A ENST00000374332.4 + 3 1061 c.731G>A c.(730-732)gGa>gAa p.G244E MAN1C1_ENST00000374329.1_Missense_Mutation_p.G15E|MAN1C1_ENST00000263979.3_Missense_Mutation_p.G64E|MAN1C1_ENST00000473891.1_3'UTR NM_020379.2 NP_065112.1 Q9NR34 MA1C1_HUMAN mannosidase, alpha, class 1C, member 1 244 post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2) 25 Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232) UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803) GCCTGGGTGGGAGAGAGCTTC 0.642000 11 18 0 0 1 0 0 PIN4 5303 broad.mit.edu 37 X 71417227 71417227 + Missense_Mutation SNP G G T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chrX:71417227G>T ENST00000373669.2 + 4 354 c.322G>T c.(322-324)Ggt>Tgt p.G108C PIN4_ENST00000423432.2_Intron|PIN4_ENST00000218432.5_3'UTR NM_006223.3 NP_006214.2 Q9Y237 PIN4_HUMAN protein (peptidylprolyl cis/trans isomerase) NIMA-interacting, 4 (parvulin) 83 PpiC. protein folding|rRNA processing cytoplasm|mitochondrial matrix|nucleolus|preribosome|spindle bent DNA binding|DNA binding|double-stranded DNA binding|peptidyl-prolyl cis-trans isomerase activity large_intestine(1)|lung(2) 3 Renal(35;0.156) GGGTGACTTGGGTTGGATGAC 0.468000 7 27 1.06961e-07 1.08906e-07 1 1 0 COL6A6 131873 broad.mit.edu 37 3 130318625 130318625 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr3:130318625C>T ENST00000358511.6 + 19 4655 c.4624C>T c.(4624-4626)Ccc>Tcc p.P1542S COL6A6_ENST00000453409.2_Missense_Mutation_p.P1542S NM_001102608.1 NP_001096078.1 A6NMZ7 CO6A6_HUMAN collagen, type VI, alpha 6 1542 Triple-helical region. axon guidance|cell adhesion collagen NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 GCCAGGCCCCCCCGGGACACC 0.493000 14 39 0 0 1 0 0 PDZD8 118987 broad.mit.edu 37 10 119044242 119044242 + Missense_Mutation SNP G G A rs144665491 byFrequency TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr10:119044242G>A ENST00000334464.5 - 5 2241 c.2002C>T c.(2002-2004)Cct>Tct p.P668S PDZD8_ENST00000482496.1_5'UTR NM_173791.3 NP_776152.1 Q8NEN9 PDZD8_HUMAN PDZ domain containing 8 668 intracellular signal transduction metal ion binding kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3) 38 Colorectal(252;0.19) all cancers(201;0.0121) TCCTTAGTAGGGCAGGAAGTT 0.428000 6 61 0 0 1 0 0 GPLD1 2822 broad.mit.edu 37 6 24466921 24466921 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr6:24466921C>T ENST00000230036.1 - 10 918 c.808G>A c.(808-810)Gag>Aag p.E270K NM_001503.3 NP_001494.2 P80108 PHLD_HUMAN glycosylphosphatidylinositol specific phospholipase D1 270 extracellular region glycosylphosphatidylinositol phospholipase D activity breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1) 32 GTCCCATTCTCCAACATGAAG 0.403000 16 28 0 0 1 0 0 TTLL8 164714 broad.mit.edu 37 22 50485644 50485644 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr22:50485644C>T ENST00000266182.6 - 4 345 c.346G>A c.(346-348)Gac>Aac p.D116N TTLL8_ENST00000477219.1_5'UTR|TTLL8_ENST00000440475.1_Missense_Mutation_p.D116N tubulin tyrosine ligase-like family, member 8 NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4) 12 all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162) READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226) AGCATCTGGTCGTAGGTCAGG 0.552000 10 36 0 0 1 0 0 OR51A4 401666 broad.mit.edu 37 11 4967551 4967551 + Silent SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr11:4967551G>A ENST00000380373.2 - 1 805 c.780C>T c.(778-780)gcC>gcT p.A260A MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron NM_001005329.1 NP_001005329.1 Q8NGJ6 O51A4_HUMAN olfactory receptor, family 51, subfamily A, member 4 260 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 29 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) GGTGGACAACGGCCAGGTTGA 0.468000 11 75 0 0 1 0 0 RGS9 8787 broad.mit.edu 37 17 63223508 63223508 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr17:63223508C>T ENST00000449996.3 + 19 2071 c.1999C>T c.(1999-2001)Ccc>Tcc p.P667S RGS9_ENST00000262406.9_Missense_Mutation_p.P670S NM_001081955.2 NP_001075424.1 O75916 RGS9_HUMAN regulator of G-protein signaling 9 670 intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3) 41 GGTCATCTGCCCCTGGGAGAG 0.602000 9 17 0 0 1 0 0 GK2 2712 broad.mit.edu 37 4 80327860 80327860 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr4:80327860G>A ENST00000358842.3 - 1 1512 c.1495C>T c.(1495-1497)Cgt>Tgt p.R499C NM_033214.2 NP_149991.2 Q14410 GLPK2_HUMAN glycerol kinase 2 499 R -> C (in Ref. 2; BAF84930). glycerol-3-phosphate metabolic process mitochondrial outer membrane ATP binding|glycerol kinase activity autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 39 GTGGCATAACGAATTTCACTT 0.478000 43 96 0 0 1 0 0 TRIM25 7706 broad.mit.edu 37 17 54981663 54981663 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr17:54981663C>T ENST00000316881.4 - 3 929 c.880G>A c.(880-882)Gag>Aag p.E294K TRIM25_ENST00000537230.1_Missense_Mutation_p.E294K NM_005082.4 NP_005073.2 Q14258 TRI25_HUMAN tripartite motif containing 25 294 Interaction with influenza A virus NS1. innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|response to virus cell junction|cytosol|nucleus sequence-specific DNA binding transcription factor activity|ubiquitin-protein ligase activity|zinc ion binding breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Breast(9;6.15e-08) TGTTCAATCTCCTCCTTCAAG 0.428000 71 156 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179419273 179419273 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr2:179419273C>T ENST00000589042.1 - 332 89025 c.88801G>A c.(88801-88803)Gga>Aga p.G29601R TTN_ENST00000342175.6_Missense_Mutation_p.G20728R|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G27960R|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G20661R|TTN_ENST00000460472.2_Missense_Mutation_p.G20536R|TTN_ENST00000342992.6_Missense_Mutation_p.G27033R NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 27960 Ig-like 135. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TATTCATTTCCTTTGATAATT 0.453000 9 49 0 0 1 0 0 ASIC3 9311 broad.mit.edu 37 7 150747973 150747973 + Silent SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr7:150747973G>A ENST00000357922.4 + 4 1536 c.942G>A c.(940-942)ggG>ggA p.G314G ASIC3_ENST00000349064.5_Silent_p.G314G|ASIC3_ENST00000297512.8_Silent_p.G314G NM_020322.3 NP_064718.1 Q9UHC3 ACCN3_HUMAN acid-sensing (proton-gated) ion channel 3 314 sensory perception|signal transduction cytoplasm|integral to plasma membrane ligand-gated sodium channel activity CCCTTATGGGGTGTCGCCTGG 0.632000 20 37 0 0 1 0 0 TSSK2 23617 broad.mit.edu 37 22 19118936 19118936 + Silent SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr22:19118936G>A ENST00000399635.2 + 1 616 c.24G>A c.(22-24)agG>agA p.R8R DGCR14_ENST00000252137.6_3'UTR NM_053006.4 NP_443732.3 Q96PF2 TSSK2_HUMAN testis-specific serine kinase 2 8 cell differentiation|multicellular organismal development|spermatogenesis cytoplasm ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1) 11 Colorectal(54;0.0993) CAGTCCTAAGGAAGAAGGGTT 0.542000 57 59 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168115785 168115785 + Missense_Mutation SNP C C A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr2:168115785C>A ENST00000409728.1 + 11 2917 c.2828C>A c.(2827-2829)cCt>cAt p.P943H XIRP2_ENST00000409043.1_Missense_Mutation_p.P910H|XIRP2_ENST00000409273.1_3'UTR|XIRP2_ENST00000420519.1_Missense_Mutation_p.P943H|XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000409756.2_Missense_Mutation_p.P910H|XIRP2_ENST00000409195.1_3'UTR|XIRP2_ENST00000409605.1_Missense_Mutation_p.P688H NM_001199143.1 NP_001186072.1 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 0 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 ACAGCTAAGCCTTTGTTTCCC 0.438000 32 63 2.81731e-10 2.87835e-10 1 1 0 GLYATL1 92292 broad.mit.edu 37 11 58723129 58723129 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr11:58723129G>A ENST00000300079.5 + 7 681 c.631G>A c.(631-633)Ggg>Agg p.G211R GLYATL1_ENST00000317391.4_Missense_Mutation_p.G180R|RP11-142C4.6_ENST00000533954.1_RNA NM_001220496.1|NM_080661.3 NP_001207425.1|NP_542392.2 Q969I3 GLYL1_HUMAN glycine-N-acyltransferase-like 1 180 mitochondrion glycine N-acyltransferase activity NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1) 34 Glycine(DB00145) CTCTTATTCTGGGCTGGTAAA 0.468000 22 46 0 0 1 0 0 MYO9B 4650 broad.mit.edu 37 19 17322951 17322951 + Silent SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr19:17322951C>T ENST00000594824.1 + 40 6453 c.6306C>T c.(6304-6306)cgC>cgT p.R2102R MYO9B_ENST00000595618.1_3'UTR|MYO9B_ENST00000397274.2_3'UTR Q13459 MYO9B_HUMAN myosin IXB 2102 Tail. actin filament-based movement cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4) 39 CACCTGCCCGCCGCCCGGACC 0.726000 5 9 0 0 1 0 0 BCAS3 54828 broad.mit.edu 37 17 59465979 59465979 + Splice_Site SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr17:59465979G>A ENST00000589222.1 + 25 2728 c.2659_splice c.e25-1 p.G887_splice BCAS3_ENST00000588462.1_Intron|BCAS3_ENST00000585812.1_Intron|BCAS3_ENST00000585744.1_Intron|BCAS3_ENST00000408905.3_Intron|BCAS3_ENST00000390652.5_Intron|RP11-332H18.5_ENST00000585765.1_RNA|BCAS3_ENST00000407086.3_Intron|BCAS3_ENST00000588874.1_Intron Q9H6U6 BCAS3_HUMAN breast carcinoma amplified sequence 3 0 nucleus NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06) TTTTCAAAAGGGAAAAAAAAA 0.443000 3 6 0 0 1 0 0 GRIK3 2899 broad.mit.edu 37 1 37346324 37346324 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:37346324G>A ENST00000373091.3 - 3 477 c.461C>T c.(460-462)cCc>cTc p.P154L GRIK3_ENST00000373093.4_Missense_Mutation_p.P154L NM_000831.3 NP_000822.2 Q13003 GRIK3_HUMAN glutamate receptor, ionotropic, kainate 3 154 negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 89 Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169) L-Glutamic Acid(DB00142) GGCGTAGTCGGGGTAGAGGTT 0.607000 19 135 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168100393 168100393 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr2:168100393G>A ENST00000409195.1 + 9 2580 c.2491G>A c.(2491-2493)Gaa>Aaa p.E831K XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.E609K|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.E831K|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 656 actin cytoskeleton organization cell junction actin binding p.E831K(1) NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 CATTGAAAAGGAAAAAATAAT 0.388000 26 68 0 0 1 0 0 GPR112 139378 broad.mit.edu 37 X 135469928 135469928 + Silent SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chrX:135469928G>A ENST00000394143.1 + 16 8097 c.7806G>A c.(7804-7806)ggG>ggA p.G2602G GPR112_ENST00000412101.1_Silent_p.G2397G|GPR112_ENST00000370652.1_Silent_p.G2602G|GPR112_ENST00000394141.1_Silent_p.G2397G|GPR112_ENST00000287534.4_Intron NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 2602 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) CTGTGGGAGGGATTTTGGCTT 0.413000 77 134 0 0 1 0 0 CPN2 1370 broad.mit.edu 37 3 194062001 194062001 + Silent SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr3:194062001G>A ENST00000323830.3 - 2 1520 c.1431C>T c.(1429-1431)gcC>gcT p.A477A CPN2_ENST00000429275.1_Silent_p.A477A NM_001080513.2 NP_001073982.2 P22792 CPN2_HUMAN carboxypeptidase N, polypeptide 2 477 protein stabilization extracellular region enzyme regulator activity breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1) 27 all_cancers(143;5.31e-09)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.65e-05) ACTGGCTCCGGGCTGCCCTTT 0.667000 19 73 0 0 1 0 0 SARDH 1757 broad.mit.edu 37 9 136597576 136597576 + Missense_Mutation SNP T T C TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr9:136597576T>C ENST00000371872.4 - 3 736 c.479A>G c.(478-480)cAg>cGg p.Q160R SARDH_ENST00000422262.2_5'UTR|SARDH_ENST00000439388.1_Missense_Mutation_p.Q160R|SARDH_ENST00000298628.5_Missense_Mutation_p.Q160R|SARDH_ENST00000371867.1_Missense_Mutation_p.Q71R NM_007101.3 NP_009032.2 Q9UL12 SARDH_HUMAN sarcosine dehydrogenase 160 glycine catabolic process mitochondrial matrix aminomethyltransferase activity|sarcosine dehydrogenase activity central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 44 OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05) GTCCAGGCGCTGCCGGTTGGA 0.677000 17 186 0 0 1 0 0 ACTL6B 51412 broad.mit.edu 37 7 100244640 100244640 + Missense_Mutation SNP T T C TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr7:100244640T>C ENST00000160382.5 - 10 996 c.890A>G c.(889-891)gAg>gGg p.E297G NM_016188.4 NP_057272.1 O94805 ACL6B_HUMAN actin-like 6B 297 chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nBAF complex|SWI/SNF complex ATP binding|protein binding|structural constituent of cytoskeleton endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1) 13 Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817) GCGGAGTCGCTCGGCGCCGTA 0.612000 13 64 0 0 1 0 0 SLC30A8 169026 broad.mit.edu 37 8 118159392 118159392 + Splice_Site SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr8:118159392G>A ENST00000427715.2 + 5 558 c.124_splice c.e5+1 p.G42_splice SLC30A8_ENST00000519688.1_Splice_Site_p.G42_splice|SLC30A8_ENST00000521243.1_Splice_Site_p.G42_splice|SLC30A8_ENST00000456015.2_Splice_Site_p.G91_splice NM_001172813.1|NM_001172815.1 NP_001166284.1|NP_001166286.1 Q8IWU4 ZNT8_HUMAN solute carrier family 30 (zinc transporter), member 8 91 insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane protein homodimerization activity|zinc ion transmembrane transporter activity breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5) 41 all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173) STAD - Stomach adenocarcinoma(47;0.203) AGAGGTCGTGGGTGAGTCTTT 0.398000 53 44 0 0 1 0 0 FGD6 55785 broad.mit.edu 37 12 95566470 95566470 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr12:95566470G>A ENST00000343958.4 - 3 2715 c.2492C>T c.(2491-2493)cCc>cTc p.P831L FGD6_ENST00000549499.1_Missense_Mutation_p.P831L|FGD6_ENST00000546711.1_Missense_Mutation_p.P831L NM_018351.3 NP_060821.3 Q6ZV73 FGD6_HUMAN FYVE, RhoGEF and PH domain containing 6 831 actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 CTCATCAGAGGGAAGGTCACC 0.443000 24 78 0 0 1 0 0 BMPR1B 658 broad.mit.edu 37 4 96036835 96036835 + Splice_Site SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr4:96036835G>A ENST00000515059.1 + 6 529 c.e6-1 BMPR1B_ENST00000394931.1_Splice_Site|BMPR1B_ENST00000264568.4_Splice_Site|BMPR1B_ENST00000440890.2_Splice_Site|BMPR1B_ENST00000502683.1_Splice_Site NM_001203.2 NP_001194.1 O00238 BMR1B_HUMAN bone morphogenetic protein receptor, type IB BMP signaling pathway|cartilage condensation|eye development|limb morphogenesis|ovarian cumulus expansion|positive regulation of bone mineralization|positive regulation of osteoblast differentiation receptor complex ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta receptor activity breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 31 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;6.51e-07) TTCGATTATAGGACACTCCCA 0.338000 20 48 0 0 1 0 0 KIAA1210 57481 broad.mit.edu 37 X 118220586 118220586 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chrX:118220586G>A ENST00000402510.2 - 11 4606 c.4607C>T c.(4606-4608)tCt>tTt p.S1536F NM_020721.1 NP_065772.1 Q9ULL0 K1210_HUMAN KIAA1210 1536 breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 64 TGCAACGTAAGATATTTTGGT 0.512000 36 48 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179616629 179616629 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr2:179616629C>T ENST00000360870.5 - 46 10720 c.10498G>A c.(10498-10500)Gaa>Aaa p.E3500K TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Intron NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 3499 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTAAAATATTCAGGCCAGGAG 0.383000 55 128 0 0 1 0 0 MYLK2 85366 broad.mit.edu 37 20 30419615 30419615 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr20:30419615G>A ENST00000375994.2 + 10 1807 c.1534G>A c.(1534-1536)Gag>Aag p.E512K MYLK2_ENST00000468730.1_3'UTR|MYLK2_ENST00000375985.4_Missense_Mutation_p.E512K Q9H1R3 MYLK2_HUMAN myosin light chain kinase 2 512 Protein kinase. cardiac muscle tissue morphogenesis|regulation of muscle filament sliding ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity p.E512K(1) NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 33 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) CGTATCAGACGAGGCCAAAGA 0.512000 28 66 0 0 1 0 0 FLVCR1 28982 broad.mit.edu 37 1 213032166 213032166 + Silent SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:213032166G>A ENST00000366971.4 + 1 570 c.372G>A c.(370-372)caG>caA p.Q124Q NM_014053.3 NP_054772.1 Q9Y5Y0 FLVC1_HUMAN feline leukemia virus subgroup C cellular receptor 1 124 cell death|cellular iron ion homeostasis|heme export|transmembrane transport integral to plasma membrane heme transporter activity|protein binding|receptor activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(2) 12 OV - Ovarian serous cystadenocarcinoma(81;0.00733)|all cancers(67;0.013)|GBM - Glioblastoma multiforme(131;0.0845)|Epithelial(68;0.11) ACGCCTTTCAGTGGATCCAGT 0.612000 20 34 0 0 1 0 0 BCAS4 55653 broad.mit.edu 37 20 49493110 49493110 + Nonsense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr20:49493110C>T ENST00000371608.2 + 5 577 c.577C>T c.(577-579)Cag>Tag p.Q193* BCAS4_ENST00000358791.5_3'UTR|BCAS4_ENST00000262591.5_Nonsense_Mutation_p.Q148* NM_198799.2 NP_942094.2 Q8TDM0 BCAS4_HUMAN breast carcinoma amplified sequence 4 0 cytoplasm large_intestine(2)|lung(2)|pancreas(1)|upper_aerodigestive_tract(1) 6 CGGGGAAGCACAGCACCACCC 0.582000 7 116 0 0 1 0 0 AMTN 401138 broad.mit.edu 37 4 71396990 71396990 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr4:71396990G>A ENST00000339336.4 + 8 722 c.592G>A c.(592-594)Gag>Aag p.E198K AMTN_ENST00000504451.1_Missense_Mutation_p.E197K NM_212557.2 NP_997722.1 Q6UX39 AMTN_HUMAN amelotin 198 biomineral tissue development|cell adhesion|odontogenesis of dentine-containing tooth basal lamina|cell-cell junction NS(3)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)|skin(1) 19 Lung(101;0.235) ACATGCCATCGAGGAAGCCAC 0.517000 9 34 0 0 1 0 0 VWA8 23078 broad.mit.edu 37 13 42393388 42393388 + Missense_Mutation SNP A A C TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr13:42393388A>C ENST00000379310.3 - 15 1903 c.1835T>G c.(1834-1836)gTg>gGg p.V612G VWA8_ENST00000281496.6_Missense_Mutation_p.V612G NM_015058.1 NP_055873.1 von Willebrand factor A domain containing 8 TTCACTTTTCACAAGTGGTTT 0.388000 11 28 0 0 1 0 0 FKBP15 23307 broad.mit.edu 37 9 115932877 115932877 + Silent SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr9:115932877G>A ENST00000238256.3 - 25 2808 c.2691C>T c.(2689-2691)tcC>tcT p.S897S NM_015258.1 NP_056073.1 Q5T1M5 FKB15_HUMAN FK506 binding protein 15, 133kDa 897 endocytosis|protein folding axon|early endosome actin binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1) 26 CTCTCCGTAAGGACTGGAACA 0.443000 30 96 0 0 1 0 0 MYO5B 4645 broad.mit.edu 37 18 47405404 47405404 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr18:47405404C>T ENST00000285039.7 - 24 3486 c.3187G>A c.(3187-3189)Gag>Aag p.E1063K MYO5B_ENST00000324581.6_Missense_Mutation_p.E204K NM_001080467.2 NP_001073936.1 Q9ULV0 MYO5B_HUMAN myosin VB 1063 protein transport myosin complex actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4) 87 READ - Rectum adenocarcinoma(32;0.103) CGGGATCGCTCCTCCTCCAGT 0.468000 29 39 0 0 1 0 0 STAMBPL1 57559 broad.mit.edu 37 10 90673167 90673167 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr10:90673167C>T ENST00000371927.3 + 6 1688 c.730C>T c.(730-732)Cct>Tct p.P244S STAMBPL1_ENST00000371926.3_Missense_Mutation_p.P244S|STAMBPL1_ENST00000371922.1_Missense_Mutation_p.P78S|STAMBPL1_ENST00000371924.1_Missense_Mutation_p.P244S Q96FJ0 STALP_HUMAN STAM binding protein-like 1 244 metal ion binding|metallopeptidase activity|protein binding breast(2)|endometrium(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(1) 11 Colorectal(252;0.0381) Colorectal(12;6.38e-05)|COAD - Colon adenocarcinoma(12;7.75e-05) CCACTCTCCTCCTGTAAACAG 0.453000 47 49 0 0 1 0 0 PLXNB3 5365 broad.mit.edu 37 X 153036794 153036794 + Silent SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chrX:153036794C>T ENST00000538966.1 + 14 2623 c.2352C>T c.(2350-2352)ctC>ctT p.L784L PLXNB3_ENST00000538776.1_Silent_p.L414L|PLXNB3_ENST00000538543.1_Intron|PLXNB3_ENST00000361971.5_Silent_p.L761L|PLXNB3_ENST00000538282.1_Silent_p.L371L NM_001163257.1 NP_001156729.1 Q9ULL4 PLXB3_HUMAN plexin B3 761 axon guidance integral to membrane|intracellular|plasma membrane protein binding|receptor activity central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 32 all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05) AGCGGGAGCTCCCAGTGCCCA 0.632000 24 58 0 0 1 0 0 PLCB4 5332 broad.mit.edu 37 20 9351884 9351884 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr20:9351884G>A ENST00000378501.2 + 7 542 c.527G>A c.(526-528)gGa>gAa p.G176E PLCB4_ENST00000334005.3_Missense_Mutation_p.G176E|PLCB4_ENST00000278655.4_Missense_Mutation_p.G176E|PLCB4_ENST00000378473.3_Missense_Mutation_p.G176E|PLCB4_ENST00000414679.2_Missense_Mutation_p.G176E|PLCB4_ENST00000378493.1_Missense_Mutation_p.G176E|PLCB4_ENST00000492632.1_3'UTR NM_000933.3 NP_000924.3 Q15147 PLCB4_HUMAN phospholipase C, beta 4 176 intracellular signal transduction|lipid catabolic process cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity p.G176E(1) NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1) 87 TTTGCATCGGGAAAAACAGAA 0.353000 24 93 0 0 1 0 0 CD68 968 broad.mit.edu 37 17 7483543 7483543 + Silent SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr17:7483543G>A ENST00000250092.6 + 2 676 c.465G>A c.(463-465)gaG>gaA p.E155E CD68_ENST00000380498.6_Silent_p.E128E NM_001251.2 NP_001242.2 P34810 CD68_HUMAN CD68 molecule 155 endosome membrane|integral to membrane|lysosomal membrane|membrane fraction|plasma membrane endometrium(1)|lung(1)|skin(1) 3 CCTCCAAGGAGACCATTGGAG 0.572000 8 21 0 0 1 0 0 SCN5A 6331 broad.mit.edu 37 3 38647610 38647610 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr3:38647610C>T ENST00000413689.1 - 10 1363 c.1170G>A c.(1168-1170)atG>atA p.M390I SCN5A_ENST00000449557.2_Missense_Mutation_p.M390I|SCN5A_ENST00000455624.2_Missense_Mutation_p.M390I|SCN5A_ENST00000450102.2_Missense_Mutation_p.M390I|SCN5A_ENST00000451551.2_Missense_Mutation_p.M390I|SCN5A_ENST00000414099.2_Missense_Mutation_p.M390I|SCN5A_ENST00000423572.2_Missense_Mutation_p.M390I|SCN5A_ENST00000333535.4_Missense_Mutation_p.M390I|SCN5A_ENST00000443581.1_Missense_Mutation_p.M390I|SCN5A_ENST00000425664.1_Missense_Mutation_p.M390I NM_001099404.1|NM_001160160.1 NP_001092874.1|NP_001153632.1 Q14524 SCN5A_HUMAN sodium channel, voltage-gated, type V, alpha subunit 390 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) TGAAGAAGATCATGTAGATCT 0.567000 19 43 0 0 1 0 0 EXPH5 23086 broad.mit.edu 37 11 108384738 108384738 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr11:108384738G>A ENST00000265843.4 - 6 1606 c.1496C>T c.(1495-1497)tCa>tTa p.S499L EXPH5_ENST00000443411.1_Missense_Mutation_p.S311L|EXPH5_ENST00000524840.1_5'UTR|EXPH5_ENST00000525344.1_Missense_Mutation_p.S492L|EXPH5_ENST00000428840.1_Missense_Mutation_p.S423L NM_015065.2 NP_055880.2 Q149M6 Q149M6_HUMAN exophilin 5 499 intracellular protein transport Rab GTPase binding breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1) 91 all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16) Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184) AGAACTGAATGATTTCCTGCT 0.423000 25 46 0 0 1 0 0 TBX19 9095 broad.mit.edu 37 1 168282176 168282176 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:168282176C>T ENST00000367821.3 + 8 1334 c.1283C>T c.(1282-1284)cCc>cTc p.P428L TBX19_ENST00000465440.1_3'UTR NM_005149.2 NP_005140.1 O60806 TBX19_HUMAN T-box 19 428 anatomical structure morphogenesis nucleus DNA binding NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1) 34 all_hematologic(923;0.215) GCCTCGCATCCCTTCGCGGGC 0.622000 6 112 0 0 1 0 0 SCN5A 6331 broad.mit.edu 37 3 38651317 38651317 + Missense_Mutation SNP A A G TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr3:38651317A>G ENST00000413689.1 - 7 1035 c.842T>C c.(841-843)gTg>gCg p.V281A SCN5A_ENST00000449557.2_Missense_Mutation_p.V281A|SCN5A_ENST00000455624.2_Missense_Mutation_p.V281A|SCN5A_ENST00000450102.2_Missense_Mutation_p.V281A|SCN5A_ENST00000451551.2_Missense_Mutation_p.V281A|SCN5A_ENST00000414099.2_Missense_Mutation_p.V281A|SCN5A_ENST00000423572.2_Missense_Mutation_p.V281A|SCN5A_ENST00000333535.4_Missense_Mutation_p.V281A|SCN5A_ENST00000443581.1_Missense_Mutation_p.V281A|SCN5A_ENST00000425664.1_Missense_Mutation_p.V281A NM_001099404.1|NM_001160160.1 NP_001092874.1|NP_001153632.1 Q14524 SCN5A_HUMAN sodium channel, voltage-gated, type V, alpha subunit 281 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) GAAGTTGCGCACGCACTTGTG 0.587000 21 79 0 0 1 0 0 MGAT5B 146664 broad.mit.edu 37 17 74936505 74936505 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr17:74936505C>T ENST00000569840.2 + 14 2180 c.1606C>T c.(1606-1608)Ccc>Tcc p.P536S MGAT5B_ENST00000428789.2_Missense_Mutation_p.P545S|MGAT5B_ENST00000301618.4_Missense_Mutation_p.P534S NM_001199172.1 NP_001186101.1 Q3V5L5 MGT5B_HUMAN mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B 536 Golgi membrane|integral to membrane alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 GTTTGGCTTCCCCTACGAGGG 0.652000 25 155 0 0 1 0 0 ELN 2006 broad.mit.edu 37 7 73474245 73474245 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr7:73474245G>A ENST00000252034.7 + 23 1843 c.1444G>A c.(1444-1446)Gga>Aga p.G482R ELN_ENST00000380576.5_Missense_Mutation_p.G463R|ELN_ENST00000458204.1_Missense_Mutation_p.G472R|ELN_ENST00000380584.4_Missense_Mutation_p.G449R|ELN_ENST00000414324.1_Missense_Mutation_p.G458R|ELN_ENST00000357036.5_Missense_Mutation_p.G487R|ELN_ENST00000380575.4_Missense_Mutation_p.G453R|ELN_ENST00000320399.6_Missense_Mutation_p.G482R|ELN_ENST00000445912.1_Missense_Mutation_p.G482R|ELN_ENST00000380562.4_Missense_Mutation_p.G488R|ELN_ENST00000429192.1_Missense_Mutation_p.G468R|ELN_ENST00000380553.4_Missense_Mutation_p.G346R|ELN_ENST00000320492.7_Missense_Mutation_p.G401R|ELN_ENST00000358929.4_Missense_Mutation_p.G517R|CTB-51J22.1_ENST00000435932.1_RNA NM_000501.2 NP_000492.2 P15502 ELN_HUMAN elastin 511 Ala-rich. blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange proteinaceous extracellular matrix extracellular matrix constituent conferring elasticity|protein binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1) 32 Lung NSC(55;0.159) Rofecoxib(DB00533) CGTGGCTCCTGGAGTTGGCGT 0.572000 T PAX5 B-ALL """Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome""" 79 208 0 0 1 0 0 DNAH2 146754 broad.mit.edu 37 17 7689558 7689558 + Silent SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr17:7689558C>T ENST00000572933.1 + 40 7706 c.6246C>T c.(6244-6246)atC>atT p.I2082I DNAH2_ENST00000389173.2_Silent_p.I2082I Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 2082 AAA 2 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) CCACCATGATCGTGGGCTGCA 0.572000 19 50 0 0 1 0 0 GLRA3 8001 broad.mit.edu 37 4 175577921 175577921 + Silent SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr4:175577921C>T ENST00000274093.3 - 9 1591 c.1089G>A c.(1087-1089)ctG>ctA p.L363L GLRA3_ENST00000340217.5_Intron NM_006529.2 NP_006520.2 O75311 GLRA3_HUMAN glycine receptor, alpha 3 363 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) AAAACTTCTCCAGTGCAAAAG 0.353000 7 44 0 0 1 0 0 ICAM1 3383 broad.mit.edu 37 19 10394406 10394406 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr19:10394406C>T ENST00000264832.3 + 3 906 c.581C>T c.(580-582)cCc>cTc p.P194L CTD-2369P2.5_ENST00000592893.1_RNA|ICAM1_ENST00000423829.2_Intron NM_000201.2 NP_000192.2 P05362 ICAM1_HUMAN intercellular adhesion molecule 1 194 adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor extracellular space|integral to plasma membrane integrin binding|transmembrane receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06) Natalizumab(DB00108)|Simvastatin(DB00641) GACCTGCGGCCCCAAGGGCTG 0.622000 3 23 0 0 1 0 0 ADAMTS2 9509 broad.mit.edu 37 5 178585775 178585775 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr5:178585775C>T ENST00000251582.7 - 6 1182 c.1081G>A c.(1081-1083)Gat>Aat p.D361N ADAMTS2_ENST00000274609.5_Missense_Mutation_p.D361N NM_014244.4 NP_055059.2 O95450 ATS2_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 2 361 Peptidase M12B. collagen catabolic process proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7) 72 all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326) all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.0473) ATGGCGTGATCGTGGTATTCA 0.607000 27 100 0 0 1 0 0 CYP3A4 1576 broad.mit.edu 37 7 99367406 99367406 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr7:99367406G>A ENST00000336411.2 - 6 689 c.506C>T c.(505-507)cCt>cTt p.P169L CYP3A4_ENST00000354593.2_Intron NM_001202855.2|NM_017460.5 NP_001189784.1|NP_059488.2 P08684 CP3A4_HUMAN cytochrome P450, family 3, subfamily A, polypeptide 4 169 alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process cell surface|endoplasmic reticulum membrane|integral to membrane|microsome albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2) 18 Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228) Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909) CAAGGTGACAGGCTTGCCTGT 0.522000 12 130 0 0 1 0 0 LBR 3930 broad.mit.edu 37 1 225594435 225594435 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:225594435C>T ENST00000338179.2 - 11 1539 c.1414G>A c.(1414-1416)Gcc>Acc p.A472T LBR_ENST00000272163.4_Missense_Mutation_p.A472T NM_194442.2 NP_919424.1 Q14739 LBR_HUMAN lamin B receptor 472 cholesterol biosynthetic process integral to nuclear inner membrane chromo shadow domain binding|delta14-sterol reductase activity|DNA binding|lamin binding|receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 22 Breast(184;0.165) GBM - Glioblastoma multiforme(131;0.117) AAATAAAAGGCTTGGAAGCTG 0.398000 16 42 0 0 1 0 0 COL9A2 1298 broad.mit.edu 37 1 40777365 40777365 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:40777365G>A ENST00000372748.3 - 9 536 c.440C>T c.(439-441)cCa>cTa p.P147L NM_001852.3 NP_001843.1 Q14055 CO9A2_HUMAN collagen, type IX, alpha 2 147 Triple-helical region 4 (COL4). axon guidance|skeletal system development collagen type IX endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2) 22 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;2.08e-17) GGGCCCCGATGGTCCATCTGG 0.612000 9 86 0 0 1 0 0 MRPS31 10240 broad.mit.edu 37 13 41331087 41331087 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr13:41331087C>T ENST00000323563.6 - 4 698 c.662G>A c.(661-663)aGa>aAa p.R221K NM_005830.3 NP_005821.2 Q92665 RT31_HUMAN mitochondrial ribosomal protein S31 221 mitochondrion|ribosome protein domain specific binding breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 13 Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194) all cancers(112;1.52e-08)|Epithelial(112;7.63e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000192)|GBM - Glioblastoma multiforme(144;0.00233)|BRCA - Breast invasive adenocarcinoma(63;0.0706) AAGCTCTGGTCTTGAACGAAC 0.368000 25 46 0 0 1 0 0 TXNL4B 54957 broad.mit.edu 37 16 72120625 72120625 + Nonsense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr16:72120625G>A ENST00000268483.3 - 4 682 c.361C>T c.(361-363)Cga>Tga p.R121* TXNL4B_ENST00000423037.1_Nonsense_Mutation_p.R121*|TXNL4B_ENST00000426362.2_Nonsense_Mutation_p.R121*|RP11-384M15.3_ENST00000561827.1_RNA NM_001142318.1|NM_017853.2 NP_001135790.1|NP_060323.1 Q9NX01 TXN4B_HUMAN thioredoxin-like 4B 121 mitosis|mRNA processing|RNA splicing spliceosomal complex p.R121*(1) cervix(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2) 8 ATTGCTCCTCGATAGATTACT 0.368000 5 41 0 0 1 0 0 OR2G6 391211 broad.mit.edu 37 1 248685744 248685744 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:248685744G>A ENST00000343414.4 + 1 829 c.797G>A c.(796-798)aGa>aAa p.R266K NM_001013355.1 NP_001013373.1 Q5TZ20 OR2G6_HUMAN olfactory receptor, family 2, subfamily G, member 6 266 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0156) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GCCAATAGGAGATCCAAAAAC 0.443000 76 67 0 0 1 0 0 AHNAK 79026 broad.mit.edu 37 11 62296610 62296610 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr11:62296610G>A ENST00000378024.4 - 5 5553 c.5279C>T c.(5278-5280)cCa>cTa p.P1760L AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 1760 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) CTTTCCTTCTGGTCCCTCAAT 0.478000 84 143 0 0 1 0 0 NBPF15 284565 broad.mit.edu 37 1 148594470 148594470 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:148594470C>T ENST00000442702.2 + 21 2910 c.1843C>T c.(1843-1845)Ccg>Tcg p.P615S NBPF15_ENST00000369187.3_Missense_Mutation_p.P615S NM_001170755.1 NP_001164226.1 Q8N660 NBPFF_HUMAN neuroblastoma breakpoint family, member 15 615 NBPF 6. P -> Q (in dbSNP:rs6695216). cytoplasm NS(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(2) 12 all_hematologic(923;0.032) TTATTCGACTCCGTCAATGTA 0.448000 326 344 0 0 1 0 0 CFTR 1080 broad.mit.edu 37 7 117250629 117250629 + Silent SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr7:117250629C>T ENST00000003084.6 + 19 3177 c.3045C>T c.(3043-3045)atC>atT p.I1015I AC000111.6_ENST00000456270.1_RNA|CFTR_ENST00000454343.1_Silent_p.I954I NM_000492.3 NP_000483.3 P13569 CFTR_HUMAN cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) 1015 ABC transmembrane type-1 2. respiratory gaseous exchange apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9) 69 Lung NSC(10;0.00148)|all_lung(10;0.00171) STAD - Stomach adenocarcinoma(10;0.000534) Bumetanide(DB00887)|Glibenclamide(DB01016) AACCCTACATCTTTGTTGCAA 0.373000 Cystic Fibrosis 27 49 0 0 1 0 0 CRAT 1384 broad.mit.edu 37 9 131857859 131857859 + Silent SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr9:131857859G>A ENST00000318080.2 - 14 1992 c.1698C>T c.(1696-1698)ttC>ttT p.F566F NM_000755.3|NM_001257363.1 NP_000746.2|NP_001244292.1 P43155 CACP_HUMAN carnitine O-acetyltransferase 566 energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix carnitine O-acetyltransferase activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2) 13 UCEC - Uterine corpus endometrioid carcinoma (4;0.0178) L-Carnitine(DB00583) CCACGGGCCCGAAGAACATGA 0.622000 16 20 0 0 1 0 0 ZNF638 27332 broad.mit.edu 37 2 71650107 71650107 + Missense_Mutation SNP A A C rs144082774 TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr2:71650107A>C ENST00000409544.1 + 22 4093 c.3463A>C c.(3463-3465)Aca>Cca p.T1155P ZNF638_ENST00000355812.3_Intron|ZNF638_ENST00000264447.4_Missense_Mutation_p.T1155P|ZNF638_ENST00000409407.1_Missense_Mutation_p.T95P NM_001252612.1 NP_001239541.1 Q14966 ZN638_HUMAN zinc finger protein 638 1155 Glu-rich. RNA splicing cytoplasm|nuclear speck double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1) 63 TGAAAAAGCAACATGTGATTC 0.413000 45 101 0 0 1 0 0 OR2L8 391190 broad.mit.edu 37 1 248112298 248112298 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:248112298C>T ENST00000357191.3 + 1 139 c.139C>T c.(139-141)Ctc>Ttc p.L47F OR2L13_ENST00000366478.2_Intron NM_001001963.1 NP_001001963.1 Q8NGY9 OR2L8_HUMAN olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene) 47 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3) 42 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0152) CATGATTCTTCTCATCTTCTT 0.413000 92 583 0 0 1 0 0 PPFIA4 8497 broad.mit.edu 37 1 203025619 203025619 + Silent SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:203025619C>T ENST00000367240.2 + 17 2687 c.2160C>T c.(2158-2160)agC>agT p.S720S PPFIA4_ENST00000599966.1_Silent_p.S235S|PPFIA4_ENST00000295706.4_Silent_p.S235S|PPFIA4_ENST00000447715.2_Silent_p.S719S|PPFIA4_ENST00000272198.6_Silent_p.S235S|PPFIA4_ENST00000414050.2_Silent_p.S448S O75335 LIPA4_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4 235 cell communication cell surface|cytoplasm protein binding NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 50 CAGCCCTGAGCCAGGAAGAAG 0.572000 10 49 0 0 1 0 0 COL18A1 80781 broad.mit.edu 37 21 46875638 46875638 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr21:46875638C>T ENST00000359759.4 + 1 215 c.194C>T c.(193-195)aCc>aTc p.T65I COL18A1_ENST00000355480.5_Missense_Mutation_p.T65I|COL18A1_ENST00000400337.2_Intron P39060 COIA1_HUMAN collagen, type XVIII, alpha 1 65 cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception collagen|extracellular space extracellular matrix structural constituent|metal ion binding|protein binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929) ACACACGTGACCCCCCGGAAT 0.637000 53 129 0 0 1 0 0 CLSTN2 64084 broad.mit.edu 37 3 140265424 140265424 + Silent SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr3:140265424C>T ENST00000458420.3 + 10 1765 c.1575C>T c.(1573-1575)cgC>cgT p.R525R NM_022131.2 NP_071414.2 Q9H4D0 CSTN2_HUMAN calsyntenin 2 525 homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 87 TCACCATCCGCCCTGGCAAAA 0.502000 HNSCC(16;0.037) 17 35 0 0 1 0 0 USP26 83844 broad.mit.edu 37 X 132161123 132161123 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chrX:132161123G>A ENST00000511190.1 - 6 1595 c.1126C>T c.(1126-1128)Cat>Tat p.H376Y USP26_ENST00000406273.1_Missense_Mutation_p.H376Y|USP26_ENST00000370832.1_Missense_Mutation_p.H376Y NM_031907.1 NP_114113.1 Q9BXU7 UBP26_HUMAN ubiquitin specific peptidase 26 376 protein deubiquitination|ubiquitin-dependent protein catabolic process nucleus cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3) 60 Acute lymphoblastic leukemia(192;0.000127) GCATTGCCATGGAATATCTCT 0.363000 22 153 0 0 1 0 0 CABYR 26256 broad.mit.edu 37 18 21739436 21739436 + Splice_Site SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr18:21739436C>T ENST00000399496.3 + 5 707 c.541_splice c.e5-1 p.A181_splice CABYR_ENST00000399499.1_Splice_Site_p.A181_splice|CABYR_ENST00000327201.6_Splice_Site_p.A83_splice|CABYR_ENST00000415309.2_Intron|CABYR_ENST00000399481.2_3'UTR|CABYR_ENST00000581397.1_Splice_Site_p.A181_splice NM_012189.2|NM_153769.1 NP_036321.2|NP_722453.1 O75952 CABYR_HUMAN calcium binding tyrosine-(Y)-phosphorylation regulated 181 ciliary or flagellar motility|signal transduction|sperm capacitation cytoplasm|cytoskeleton|flagellum|motile cilium|nucleus calcium ion binding|cAMP-dependent protein kinase regulator activity|enzyme binding|protein heterodimerization activity|SH3 domain binding breast(1)|endometrium(2)|large_intestine(4)|lung(4) 11 all_cancers(21;9.13e-05)|all_epithelial(16;5.49e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0305)|Ovarian(20;0.17) TTTTTTATAGCAATGGCAACA 0.378000 15 76 0 0 1 0 0 PDZD2 23037 broad.mit.edu 37 5 32074319 32074319 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr5:32074319G>A ENST00000438447.1 + 18 3495 c.3107G>A c.(3106-3108)gGt>gAt p.G1036D PDZD2_ENST00000282493.3_Missense_Mutation_p.G1036D O15018 PDZD2_HUMAN PDZ domain containing 2 1036 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 CCTCTTCTTGGTAGCTCAGTG 0.577000 82 71 0 0 1 0 0 NHS 4810 broad.mit.edu 37 X 17744754 17744754 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chrX:17744754G>A ENST00000380060.3 + 6 2803 c.2465G>A c.(2464-2466)aGg>aAg p.R822K NHS_ENST00000398097.3_Missense_Mutation_p.R666K NM_198270.2 NP_938011.1 Q6T4R5 NHS_HUMAN Nance-Horan syndrome (congenital cataracts and dental anomalies) 822 nucleus breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 71 Hepatocellular(33;0.183) ATCTCTTTCAGGAAACCAAAG 0.498000 27 167 0 0 1 0 0 MTBP 27085 broad.mit.edu 37 8 121528218 121528218 + Missense_Mutation SNP T T A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr8:121528218T>A ENST00000305949.1 + 18 2078 c.2033T>A c.(2032-2034)cTt>cAt p.L678H NM_022045.3 NP_071328.2 Q96DY7 MTBP_HUMAN Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa 678 Interaction with MDM2 (By similarity). cell cycle arrest NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 30 Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00503) TTTTCTGAACTTCAGTCTCGT 0.403000 55 55 0 0 1 0 0 KCNK1 3775 broad.mit.edu 37 1 233750080 233750080 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:233750080G>A ENST00000366621.3 + 1 331 c.163G>A c.(163-165)Gag>Aag p.E55K NM_002245.3 NP_002236.1 O00180 KCNK1_HUMAN potassium channel, subfamily K, member 1 55 voltage-gated potassium channel complex inward rectifier potassium channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1) 11 all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175) Ibutilide(DB00308)|Quinidine(DB00908) GCTGCGCCAGGAGCTGCGCAA 0.632000 19 15 0 0 1 0 0 FANCF 2188 broad.mit.edu 37 11 22646955 22646955 + Silent SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr11:22646955G>A ENST00000327470.3 - 1 432 c.402C>T c.(400-402)gcC>gcT p.A134A AC103801.2_ENST00000428556.2_5'UTR NM_022725.3 NP_073562.1 Q9NPI8 FANCF_HUMAN Fanconi anemia, complementation group F 134 DNA repair nucleoplasm protein binding kidney(3)|large_intestine(3)|lung(6)|skin(1) 13 GGGCAAGGCGGGCCAGGCTCT 0.647000 """N, F""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia OREG0020844 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 76 164 0 0 1 0 0 DFNB59 494513 broad.mit.edu 37 2 179323291 179323291 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr2:179323291C>T ENST00000409117.3 + 5 960 c.604C>T c.(604-606)Cca>Tca p.P202S DFNB59_ENST00000375129.4_Missense_Mutation_p.P202S|DFNB59_ENST00000605419.1_3'UTR NM_001042702.3 NP_001036167.1 Q0ZLH3 PJVK_HUMAN deafness, autosomal recessive 59 202 sensory perception of sound breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564) TATTGTTTTCCCAGCACATAC 0.338000 26 88 0 0 1 0 0 ZNF229 7772 broad.mit.edu 37 19 44933628 44933628 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr19:44933628C>T ENST00000291187.4 - 6 1632 c.1310G>A c.(1309-1311)tGt>tAt p.C437Y CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000588931.1_Missense_Mutation_p.C443Y|ZNF229_ENST00000591289.1_Intron NM_001278510.1 NP_001265439.1 Q9UJW7 ZN229_HUMAN zinc finger protein 229 443 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 45 Prostate(69;0.0352) AGACTTGGCACAGAAGCCTTT 0.562000 12 47 0 0 1 0 0 ANKRD12 23253 broad.mit.edu 37 18 9258430 9258430 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr18:9258430C>T ENST00000383440.2 + 8 5353 c.5096C>T c.(5095-5097)gCc>gTc p.A1699V ANKRD12_ENST00000262126.3_Missense_Mutation_p.A1722V|ANKRD12_ENST00000400020.3_Missense_Mutation_p.A1699V NM_001083625.2 NP_001077094.1 Q6UB98 ANR12_HUMAN ankyrin repeat domain 12 1722 nucleus NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2) 65 GAAGAAAATGCCGAAGATGAT 0.343000 9 18 0 0 1 0 0 C6 729 broad.mit.edu 37 5 41155163 41155163 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr5:41155163G>A ENST00000263413.3 - 14 2276 c.2012C>T c.(2011-2013)tCa>tTa p.S671L C6_ENST00000337836.5_Missense_Mutation_p.S671L NM_001115131.1 NP_001108603.2 P13671 CO6_HUMAN complement component 6 671 C5b-binding domain.|Sushi 1. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2) 96 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) AGTAAGGCATGAAATTTCAAC 0.398000 21 99 0 0 1 0 0 KCNN2 3781 broad.mit.edu 37 5 113699689 113699689 + Silent SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr5:113699689G>A ENST00000512097.3 + 3 1591 c.573G>A c.(571-573)agG>agA p.R191R KCNN2_ENST00000507750.1_3'UTR|KCNN2_ENST00000264773.3_Silent_p.R191R Q9H2S1 KCNN2_HUMAN potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2 191 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) ACCACGCCAGGGAAATACAGG 0.493000 10 80 0 0 1 0 0 NUDCD3 23386 broad.mit.edu 37 7 44524593 44524593 + Silent SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr7:44524593G>A ENST00000355451.6 - 2 762 c.483C>T c.(481-483)gtC>gtT p.V161V NM_015332.3 NP_056147.2 Q8IVD9 NUDC3_HUMAN NudC domain containing 3 161 endometrium(2)|large_intestine(1)|lung(3)|skin(1) 7 GTTCCCTAGGGACTTCAGCAG 0.498000 11 36 0 0 1 0 0 ZBTB26 57684 broad.mit.edu 37 9 125681359 125681359 + Silent SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr9:125681359C>T ENST00000373656.3 - 2 928 c.855G>A c.(853-855)ctG>ctA p.L285L ZBTB26_ENST00000373654.1_Silent_p.L285L NM_020924.2 NP_065975.1 Q9HCK0 ZBT26_HUMAN zinc finger and BTB domain containing 26 285 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1) 11 CGTAGTTCTCCAGGTGACGAA 0.473000 39 120 0 0 1 0 0 SI 6476 broad.mit.edu 37 3 164725712 164725712 + Silent SNP T T G TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr3:164725712T>G ENST00000264382.3 - 36 4316 c.4254A>C c.(4252-4254)ccA>ccC p.P1418P NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 1418 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) GGAAATAAGGTGGATAATTTA 0.264000 HNSCC(35;0.089) 17 36 0 0 1 0 0 RABEP1 9135 broad.mit.edu 37 17 5286426 5286426 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr17:5286426G>A ENST00000262477.6 + 18 2721 c.2497G>A c.(2497-2499)Gag>Aag p.E833K NUP88_ENST00000573169.1_Intron|RABEP1_ENST00000546142.2_Missense_Mutation_p.E833K|RABEP1_ENST00000537505.1_Missense_Mutation_p.E790K|RABEP1_ENST00000408982.2_Missense_Mutation_p.E800K|RABEP1_ENST00000341923.6_Missense_Mutation_p.E800K NM_004703.4 NP_004694.2 Q15276 RABE1_HUMAN rabaptin, RAB GTPase binding effector protein 1 833 apoptosis|cellular membrane fusion|endocytosis|protein transport centrosome|early endosome|endocytic vesicle|recycling endosome growth factor activity|GTPase activator activity|protein homodimerization activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1) 8 GGTGCAGTTAGAGCGGATCCG 0.463000 19 39 0 0 1 0 0 F13A1 2162 broad.mit.edu 37 6 6266848 6266848 + Nonsense_Mutation SNP G G A rs121913065 TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr6:6266848G>A ENST00000264870.3 - 4 779 c.514C>T c.(514-516)Cga>Tga p.R172* NM_000129.3 NP_000120.2 P00488 F13A_HUMAN coagulation factor XIII, A1 polypeptide 172 peptide cross-linking|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 62 Ovarian(93;0.0816) all_hematologic(90;0.152) L-Glutamine(DB00130) CGACTGGTTCGAAGTACGCCA 0.458000 64 108 0 0 1 0 0 CAPRIN1 4076 broad.mit.edu 37 11 34119268 34119268 + Silent SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr11:34119268G>A ENST00000341394.4 + 18 2214 c.2025G>A c.(2023-2025)aaG>aaA p.K675K CAPRIN1_ENST00000530820.1_Silent_p.K675K|CAPRIN1_ENST00000533657.1_3'UTR|CAPRIN1_ENST00000529307.1_Silent_p.K594K|CAPRIN1_ENST00000532820.1_Silent_p.K675K|CAPRIN1_ENST00000389645.3_Silent_p.K675K NM_005898.4 NP_005889.3 Q14444 CAPR1_HUMAN cell cycle associated protein 1 675 negative regulation of translation|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis cytoplasmic mRNA processing body|cytosol|dendrite|integral to plasma membrane|stress granule protein binding|RNA binding breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1) 18 Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016) AGAATTTCAAGCGAGGCTCTG 0.443000 42 88 0 0 1 0 0 HP 3240 broad.mit.edu 37 16 72094051 72094051 + Silent SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr16:72094051G>A ENST00000355906.5 + 7 541 c.483G>A c.(481-483)cgG>cgA p.R161R HP_ENST00000398131.2_Silent_p.R102R|HP_ENST00000562526.1_Intron|HP_ENST00000565574.1_Silent_p.R102R|HP_ENST00000570083.1_Silent_p.R102R|HPR_ENST00000356967.5_Intron NM_005143.3 NP_005134.1 P00738 HPT_HUMAN haptoglobin 161 cellular iron ion homeostasis|defense response|negative regulation of hydrogen peroxide catabolic process|negative regulation of oxidoreductase activity|positive regulation of cell death|proteolysis|response to hydrogen peroxide extracellular region|haptoglobin-hemoglobin complex hemoglobin binding|serine-type endopeptidase activity central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|urinary_tract(1) 7 Renal(780;9.67e-05)|Ovarian(137;0.00327)|Hepatocellular(780;0.114) BRCA - Breast invasive adenocarcinoma(221;0.00015)|Kidney(780;0.000529) CAGTGCAGCGGATCCTGGGTG 0.532000 6 25 0 0 1 0 0 DSP 1832 broad.mit.edu 37 6 7584309 7584309 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr6:7584309C>T ENST00000379802.3 + 24 7155 c.6814C>T c.(6814-6816)Ctt>Ttt p.L2272F DSP_ENST00000418664.2_Missense_Mutation_p.L1673F NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 2272 Globular 2. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) AAAACAGAAGCTTGGCATTTA 0.468000 39 68 0 0 1 0 0 SIGLEC7 27036 broad.mit.edu 37 19 51650496 51650496 + Silent SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr19:51650496G>A ENST00000317643.6 + 6 1212 c.1143G>A c.(1141-1143)aaG>aaA p.K381K SIGLEC7_ENST00000305628.7_Silent_p.K288K|SIGLEC7_ENST00000600577.1_Intron NM_014385.2 NP_055200.1 Q9Y286 SIGL7_HUMAN sialic acid binding Ig-like lectin 7 381 cell adhesion integral to plasma membrane receptor activity|sugar binding autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1) 29 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297) CCTGCAGGAAGAAATCGGCAA 0.572000 9 45 0 0 1 0 0 SGK223 157285 broad.mit.edu 37 8 8176651 8176651 + Silent SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr8:8176651G>A ENST00000520004.1 - 6 3498 c.3234C>T c.(3232-3234)ccC>ccT p.P1078P SGK223_ENST00000330777.4_Silent_p.P1078P Q86YV5 SG223_HUMAN 1078 Protein kinase. ATP binding|non-membrane spanning protein tyrosine kinase activity CCTGGGCAGGGGGGTGTGTGG 0.706000 43 73 0 0 1 0 0 ANKRD12 23253 broad.mit.edu 37 18 9263815 9263815 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr18:9263815C>T ENST00000383440.2 + 9 5880 c.5623C>T c.(5623-5625)Cca>Tca p.P1875S ANKRD12_ENST00000262126.3_Missense_Mutation_p.P1898S|ANKRD12_ENST00000400020.3_Missense_Mutation_p.P1875S NM_001083625.2 NP_001077094.1 Q6UB98 ANR12_HUMAN ankyrin repeat domain 12 1898 nucleus NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2) 65 ACTGTCAGATCCACTTAAAGA 0.289000 10 67 0 0 1 0 0 TRAV8-4 28682 broad.mit.edu 37 14 22362919 22362919 + RNA SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr14:22362919G>A ENST00000390438.2 + 0 178 GTTGCAGGAGGAACCAGAGCC 0.483000 OREG0022572 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 13 73 0 0 1 0 0 ST6GAL2 84620 broad.mit.edu 37 2 107459984 107459984 + Silent SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr2:107459984G>A ENST00000409382.3 - 2 1060 c.450C>T c.(448-450)ttC>ttT p.F150F ST6GAL2_ENST00000409087.3_Silent_p.F150F|ST6GAL2_ENST00000361686.4_Silent_p.F150F NM_001142351.1 NP_001135823.1 Q96JF0 SIAT2_HUMAN ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 150 growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity p.F150L(1) autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 65 CGGGGGAAGGGAATCCCAATG 0.612000 85 155 0 0 1 0 0 SPATA31D5P 347127 broad.mit.edu 37 9 84532834 84532834 + RNA SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr9:84532834C>T ENST00000527857.1 + 0 2856 NR_026851.1 ATTTCCAATTCCTTTTCCCAT 0.443000 4 18 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152279738 152279738 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:152279738C>T ENST00000368799.1 - 3 7659 c.7624G>A c.(7624-7626)Gac>Aac p.D2542N FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 2542 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CCAGAGCTGTCGGCCCGAGAG 0.582000 Ichthyosis 137 637 0 0 1 0 0 AMBRA1 55626 broad.mit.edu 37 11 46564875 46564875 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr11:46564875G>A ENST00000458649.2 - 7 1110 c.692C>T c.(691-693)tCa>tTa p.S231L AMBRA1_ENST00000528950.1_Missense_Mutation_p.S231L|AMBRA1_ENST00000534300.1_Missense_Mutation_p.S231L|AMBRA1_ENST00000314845.3_Missense_Mutation_p.S231L|AMBRA1_ENST00000533727.1_Missense_Mutation_p.S231L|AMBRA1_ENST00000426438.1_Missense_Mutation_p.S231L|AMBRA1_ENST00000298834.3_Missense_Mutation_p.S231L Q9C0C7 AMRA1_HUMAN autophagy/beclin-1 regulator 1 231 autophagy|cell differentiation|nervous system development autophagic vacuole|cytoplasmic vesicle NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 39 GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182) AACTGGCTGTGATTGCAGGAG 0.572000 25 38 0 0 1 0 0 ANKRD7 56311 broad.mit.edu 37 7 117874828 117874828 + Missense_Mutation SNP T T C TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr7:117874828T>C ENST00000357099.4 + 4 601 c.428T>C c.(427-429)aTt>aCt p.I143T ANKRD7_ENST00000265224.4_Missense_Mutation_p.I123T|ANKRD7_ENST00000417525.1_Missense_Mutation_p.I70T|ANKRD7_ENST00000477532.1_3'UTR|ANKRD7_ENST00000433239.1_Missense_Mutation_p.I70T Q92527 ANKR7_HUMAN ankyrin repeat domain 7 123 male gonad development breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(2)|upper_aerodigestive_tract(1) 29 CTGAGGGATATTCGTTATAAT 0.373000 20 88 0 0 1 0 0 TLE1 7088 broad.mit.edu 37 9 84249096 84249096 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr9:84249096G>A ENST00000376499.3 - 7 1557 c.493C>T c.(493-495)Ctt>Ttt p.L165F TLE1_ENST00000376472.1_5'UTR|TLE1_ENST00000376463.1_Missense_Mutation_p.L109F NM_005077.3 NP_005068.2 Q04724 TLE1_HUMAN transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila) 165 Gly/Pro-rich. negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway transcription factor binding NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 29 GACAGCGCAAGAAGGCCGGCA 0.602000 4 7 0 0 1 0 0 ALB 213 broad.mit.edu 37 4 74274469 74274469 + Silent SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr4:74274469G>A ENST00000295897.4 + 4 518 c.429G>A c.(427-429)gaG>gaA p.E143E ALB_ENST00000503124.1_Intron|ALB_ENST00000505649.1_3'UTR|ALB_ENST00000415165.2_Intron|ALB_ENST00000401494.3_Intron|ALB_ENST00000509063.1_Silent_p.E143E NM_000477.5 NP_000468.1 P02768 ALBU_HUMAN albumin 143 Albumin 1. E -> K (in Nagoya). bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport extracellular space|platelet alpha granule lumen|protein complex antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1) 48 Breast(15;0.00102) Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137) TGAGACCAGAGGTTGATGTGA 0.383000 19 47 0 0 1 0 0 GAS7 8522 broad.mit.edu 37 17 9843463 9843463 + Silent SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr17:9843463G>A ENST00000396115.1 - 8 916 c.606C>T c.(604-606)tcC>tcT p.S202S GAS7_ENST00000579158.1_Silent_p.S214S|GAS7_ENST00000432992.2_Silent_p.S262S|GAS7_ENST00000323816.4_Silent_p.S198S|GAS7_ENST00000583882.1_Intron|GAS7_ENST00000585266.1_Silent_p.S198S|GAS7_ENST00000437099.2_Silent_p.S198S|GAS7_ENST00000542249.1_Silent_p.S207S|GAS7_ENST00000540214.1_Intron|GAS7_ENST00000580865.1_Silent_p.S122S NM_201432.1 NP_958836.1 O60861 GAS7_HUMAN growth arrest-specific 7 262 FCH. cell cycle arrest cytoplasm sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 39 GTGAAGCCAAGGAGTTCTGAG 0.507000 T MLL AML* 74 141 0 0 1 0 0 IRX6 79190 broad.mit.edu 37 16 55359008 55359008 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr16:55359008C>T ENST00000290552.7 + 1 1337 c.5C>T c.(4-6)tCc>tTc p.S2F RP11-26L20.3_ENST00000558730.2_RNA NM_024335.2 NP_077311.2 P78412 IRX6_HUMAN iroquois homeobox 6 2 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 GCCACCATGTCCTTCCCACAC 0.627000 7 38 0 0 1 0 0 STK16 8576 broad.mit.edu 37 2 220111842 220111842 + Missense_Mutation SNP C C G TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr2:220111842C>G ENST00000409638.3 + 4 486 c.314C>G c.(313-315)aCg>aGg p.T105R STK16_ENST00000409260.1_Missense_Mutation_p.T150R|STK16_ENST00000396738.2_Missense_Mutation_p.T105R|STK16_ENST00000486813.1_3'UTR|STK16_ENST00000409516.3_Intron|STK16_ENST00000409743.1_Missense_Mutation_p.T105R NM_001008910.2 NP_001008910.1 O75716 STK16_HUMAN serine/threonine kinase 16 105 Protein kinase. protein complex assembly membrane ATP binding|protein binding|protein serine/threonine kinase activity skin(1) 1 Renal(207;0.0474) Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CAGAGAGGTACGCTGTGGAAT 0.517000 19 27 0 0 1 0 0 LGI2 55203 broad.mit.edu 37 4 25028503 25028503 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr4:25028503G>A ENST00000382114.4 - 3 513 c.328C>T c.(328-330)Cat>Tat p.H110Y NM_018176.3 NP_060646.2 Q8N0V4 LGI2_HUMAN leucine-rich repeat LGI family, member 2 110 extracellular region breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2) 33 Breast(46;0.173) TATTCAAGATGAAAAAGTCCA 0.388000 20 60 0 0 1 0 0 COX6B2 125965 broad.mit.edu 37 19 55865856 55865856 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr19:55865856C>T ENST00000593184.1 - 2 113 c.34G>A c.(34-36)Ggg>Agg p.G12R COX6B2_ENST00000590900.1_Missense_Mutation_p.G12R|COX6B2_ENST00000326529.4_Missense_Mutation_p.G12R|COX6B2_ENST00000588572.1_Missense_Mutation_p.G12R|CTD-2105E13.6_ENST00000591954.3_3'UTR Q6YFQ2 CX6B2_HUMAN cytochrome c oxidase subunit VIb polypeptide 2 (testis) 12 mitochondrial crista|mitochondrial intermembrane space cytochrome-c oxidase activity endometrium(1)|kidney(1)|lung(2)|pancreas(1) 5 Breast(117;0.191) Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0449) GACCATTTCCCCTTGGGGGGC 0.657000 58 147 0 0 1 0 0 NTSR1 4923 broad.mit.edu 37 20 61391529 61391529 + Silent SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr20:61391529G>A ENST00000370501.3 + 4 1538 c.1167G>A c.(1165-1167)agG>agA p.R389R NTSR1_ENST00000482259.1_3'UTR NM_002531.2 NP_002522.2 P30989 NTR1_HUMAN neurotensin receptor 1 (high affinity) 389 endoplasmic reticulum|Golgi apparatus|integral to plasma membrane neurotensin receptor activity, G-protein coupled breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3) 27 Breast(26;3.65e-08) BRCA - Breast invasive adenocarcinoma(19;3.63e-06) GGCGGCGCAGGAGGAAGAGGC 0.642000 19 157 0 0 1 0 0 BPIFB3 359710 broad.mit.edu 37 20 31643310 31643310 + Silent SNP G G A rs149497264 TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr20:31643310G>A ENST00000375494.3 + 1 81 c.81G>A c.(79-81)acG>acA p.T27T NM_182658.1 NP_872599.1 P59826 LPLC3_HUMAN BPI fold containing family B, member 3 27 Leu-rich. innate immune response cytoplasm|extracellular region lipid binding|protein binding TGCTAGAGACGGTGGGCACGC 0.602000 34 61 0 0 1 0 0 SERPINA5 5104 broad.mit.edu 37 14 95058429 95058429 + Silent SNP G G T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr14:95058429G>T ENST00000329597.7 + 6 1284 c.1074G>T c.(1072-1074)tcG>tcT p.S358S SERPINA3_ENST00000553947.1_5'UTR|SERPINA5_ENST00000553780.1_Silent_p.S358S|SERPINA5_ENST00000554276.1_Silent_p.S358S|SERPINA5_ENST00000554866.1_Silent_p.S358S NM_000624.4 NP_000615.3 P05154 IPSP_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5 358 fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis extracellular region|membrane|protein complex acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3) 36 COAD - Colon adenocarcinoma(157;0.21) Drotrecogin alfa(DB00055)|Urokinase(DB00013) TGGACGAGTCGGGAACCAGAG 0.572000 31 248 2.08457e-15 2.13949e-15 1 1 0 VGLL3 389136 broad.mit.edu 37 3 86996214 86996214 + Missense_Mutation SNP A A C TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr3:86996214A>C ENST00000398399.2 - 4 1304 c.941T>G c.(940-942)cTa>cGa p.L314R NM_016206.2 NP_057290.2 A8MV65 VGLL3_HUMAN vestigial like 3 (Drosophila) 314 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11) 19 all_cancers(8;0.109)|Lung SC(3;0.184) Lung NSC(201;0.0777) LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712) TTGATGCTGTAGACCTGGAAC 0.363000 7 70 0 0 1 0 0 ZBTB7C 201501 broad.mit.edu 37 18 45555837 45555837 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr18:45555837C>T ENST00000588982.1 - 4 2155 c.1654G>A c.(1654-1656)Gag>Aag p.E552K ZBTB7C_ENST00000586438.1_Missense_Mutation_p.E552K|ZBTB7C_ENST00000332053.2_Missense_Mutation_p.E552K|ZBTB7C_ENST00000535628.2_Missense_Mutation_p.E552K|ZBTB7C_ENST00000590800.1_Missense_Mutation_p.E552K A1YPR0 ZBT7C_HUMAN zinc finger and BTB domain containing 7C 552 intracellular nucleic acid binding|zinc ion binding endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 23 TGTGTCTCCTCGAACTGCCGC 0.726000 9 10 0 0 1 0 0 CHST8 64377 broad.mit.edu 37 19 34263943 34263943 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr19:34263943C>T ENST00000262622.3 + 4 2008 c.1250C>T c.(1249-1251)tCc>tTc p.S417F CHST8_ENST00000438847.2_Missense_Mutation_p.S417F|CHST8_ENST00000434302.1_Missense_Mutation_p.S417F NM_022467.3 NP_071912.2 Q9H2A9 CHST8_HUMAN carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8 417 carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process Golgi membrane|integral to membrane N-acetylgalactosamine 4-O-sulfotransferase activity NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5) 27 Esophageal squamous(110;0.162) TTCAACTATTCCAAGCCCTTT 0.622000 13 24 0 0 1 0 0 MYO5B 4645 broad.mit.edu 37 18 47405405 47405405 + Silent SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr18:47405405C>T ENST00000285039.7 - 24 3485 c.3186G>A c.(3184-3186)gaG>gaA p.E1062E MYO5B_ENST00000324581.6_Silent_p.E203E NM_001080467.2 NP_001073936.1 Q9ULV0 MYO5B_HUMAN myosin VB 1062 protein transport myosin complex actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4) 87 READ - Rectum adenocarcinoma(32;0.103) GGGATCGCTCCTCCTCCAGTT 0.473000 29 37 0 0 1 0 0 SPEN 23013 broad.mit.edu 37 1 16261343 16261343 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:16261343G>A ENST00000375759.3 + 11 8812 c.8608G>A c.(8608-8610)Ggc>Agc p.G2870S NM_015001.2 NP_055816.2 Q96T58 MINT_HUMAN spen family transcriptional repressor 2870 Interaction with RBPSUH (By similarity). interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 149 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) TCCATCCAAAGGCCCTCAAGC 0.542000 9 41 0 0 1 0 0 KCNH7 90134 broad.mit.edu 37 2 163253416 163253416 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr2:163253416G>A ENST00000332142.5 - 11 2546 c.2447C>T c.(2446-2448)gCc>gTc p.A816V NM_033272.3 NP_150375.2 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 7 816 regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 108 Ibutilide(DB00308) TCCAGGTTTGGCATAAAGATG 0.373000 21 34 0 0 1 0 0 DDOST 1650 broad.mit.edu 37 1 20979419 20979419 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:20979419G>A ENST00000375048.3 - 9 1144 c.1039C>T c.(1039-1041)Ccc>Tcc p.P347S DDOST_ENST00000415136.2_Missense_Mutation_p.P310S|DDOST_ENST00000602624.2_Missense_Mutation_p.P330S NM_005216.4 NP_005207.2 P39656 OST48_HUMAN dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit (non-catalytic) 347 innate immune response|post-translational protein modification|response to cytokine stimulus|T cell activation integral to membrane|microsome|oligosaccharyltransferase complex dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|skin(1) 13 all_lung(284;2.98e-05)|Lung NSC(340;3.25e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000141)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00046)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) CCATCAAAGGGGACCCATTTG 0.512000 29 45 0 0 1 0 0 CTSL 1514 broad.mit.edu 37 9 90343253 90343253 + Missense_Mutation SNP A A C TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr9:90343253A>C ENST00000343150.5 + 4 1228 c.338A>C c.(337-339)gAg>gCg p.E113A CTSL_ENST00000495822.1_Intron|CTSL_ENST00000340342.6_Missense_Mutation_p.E113A|CTSL_ENST00000342020.5_Missense_Mutation_p.E113A cathepsin L CTGTTTTATGAGGCCCCCAGA 0.488000 26 52 0 0 1 0 0 CD96 10225 broad.mit.edu 37 3 111263893 111263893 + Splice_Site SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr3:111263893G>A ENST00000352690.4 + 2 302 c.61_splice c.e2-1 p.G21_splice CD96_ENST00000283285.5_Splice_Site_p.G21_splice|CD96_ENST00000438817.2_Splice_Site_p.G21_splice NM_005816.4 NP_005807.1 P40200 TACT_HUMAN CD96 molecule 21 cell adhesion|immune response|regulation of immune response integral to plasma membrane central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5) 35 TTCTTTTCAGGAGTTTGGGAA 0.403000 Opitz Trigonocephaly syndrome 37 103 0 0 1 0 0 RHOH 399 broad.mit.edu 37 4 40245390 40245390 + Silent SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr4:40245390C>T ENST00000381799.4 + 3 1108 c.384C>T c.(382-384)gcC>gcT p.A128A RHOH_ENST00000505618.1_Silent_p.A128A NM_001278363.1|NM_001278365.1|NM_004310.3 NP_001265292.1|NP_001265294.1|NP_004301.1 Q15669 RHOH_HUMAN ras homolog family member H 128 negative regulation of I-kappaB kinase/NF-kappaB cascade|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|T cell differentiation cytosol|mitochondrion|plasma membrane GTP binding|GTPase inhibitor activity|kinase inhibitor activity|Rho GTPase binding kidney(1)|large_intestine(3)|lung(7)|ovary(1) 12 CCCACAGGGCCTCCTGCGTCA 0.592000 20 47 0 0 1 0 0 TECTA 7007 broad.mit.edu 37 11 121031050 121031050 + Missense_Mutation SNP T T A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr11:121031050T>A ENST00000392793.1 + 15 5167 c.4896T>A c.(4894-4896)gaT>gaA p.D1632E TECTA_ENST00000264037.2_Missense_Mutation_p.D1632E O75443 TECTA_HUMAN tectorin alpha 1632 VWFD 4. cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix TECTA/TBCEL(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 135 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) TAACAGATGATTATGTGACCT 0.512000 54 70 0 0 1 0 0 ZNF560 147741 broad.mit.edu 37 19 9578849 9578849 + Silent SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr19:9578849G>A ENST00000301480.4 - 10 987 c.774C>T c.(772-774)acC>acT p.T258T NM_152476.2 NP_689689.2 Q96MR9 ZN560_HUMAN zinc finger protein 560 258 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4) 65 TTATGGTAGAGGTTTTATTGT 0.373000 22 83 0 0 1 0 0 OR1E1 8387 broad.mit.edu 37 17 3301182 3301182 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr17:3301182G>A ENST00000322608.2 - 1 522 c.523C>T c.(523-525)Ccc>Tcc p.P175S NM_003553.2 NP_003544.2 P30953 OR1E1_HUMAN olfactory receptor, family 1, subfamily E, member 1 175 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(2)|lung(5) 10 AAAAAGTGGGGGATCACATTG 0.493000 13 27 0 0 1 0 0 SERPINB10 5273 broad.mit.edu 37 18 61597295 61597295 + Silent SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr18:61597295C>T ENST00000238508.3 + 6 566 c.507C>T c.(505-507)ctC>ctT p.L169L NM_005024.1 NP_005015.1 serpin peptidase inhibitor, clade B (ovalbumin), member 10 breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2) 24 Esophageal squamous(42;0.131) TCCAGAATCTCCTGCCTGATG 0.383000 26 31 0 0 1 0 0 TMEM132B 114795 broad.mit.edu 37 12 126004055 126004055 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr12:126004055G>A ENST00000299308.3 + 4 1170 c.1162G>A c.(1162-1164)Gcc>Acc p.A388T NM_052907.2 NP_443139.2 Q14DG7 T132B_HUMAN transmembrane protein 132B 388 integral to membrane NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1) 107 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) CCTGGCTGGGGCCCAGCAGAT 0.493000 19 69 0 0 1 0 0 SLC37A3 84255 broad.mit.edu 37 7 140045754 140045754 + Silent SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr7:140045754G>A ENST00000326232.9 - 11 1244 c.1041C>T c.(1039-1041)ggC>ggT p.G347G SLC37A3_ENST00000340308.3_Intron|SLC37A3_ENST00000447932.2_Silent_p.G347G NM_207113.1 NP_996996.1 Q8NCC5 SPX3_HUMAN solute carrier family 37, member 3 347 carbohydrate transport|transmembrane transport integral to membrane endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|stomach(3) 24 Melanoma(164;0.0142) CAGAGATGAAGCCTTGCAAAG 0.498000 18 76 0 0 1 0 0 KCNG4 93107 broad.mit.edu 37 16 84255852 84255852 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr16:84255852C>T ENST00000308251.4 - 3 1599 c.1531G>A c.(1531-1533)Ggc>Agc p.G511S NM_172347.2 NP_758857.1 Q8TDN1 KCNG4_HUMAN potassium voltage-gated channel, subfamily G, member 4 511 voltage-gated potassium channel complex voltage-gated potassium channel activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 31 AAGGCTGGGCCCTCCAGGATT 0.542000 55 113 0 0 1 0 0 PRSS22 64063 broad.mit.edu 37 16 2905675 2905675 + Silent SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr16:2905675G>A ENST00000161006.3 - 4 524 c.459C>T c.(457-459)ttC>ttT p.F153F PRSS22_ENST00000574768.1_5'UTR|PRSS22_ENST00000571228.1_Intron NM_022119.3 NP_071402.1 Q9GZN4 BSSP4_HUMAN protease, serine, 22 153 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|skin(2) 10 CCCGCTCTGAGAACTGTATGG 0.602000 20 62 0 0 1 0 0 LOC101927209 101927209 broad.mit.edu 37 1 142713786 142713786 + RNA SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:142713786C>T ENST00000369381.2 - 0 819 TGTCATTTTTCATTGTGCATA 0.289000 23 52 0 0 1 0 0 RTL1 388015 broad.mit.edu 37 14 101351093 101351093 + Silent SNP C C A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr14:101351093C>A ENST00000534062.1 - 1 91 c.33G>T c.(31-33)acG>acT p.T11T MIR136_ENST00000385207.1_RNA NM_001134888.2 NP_001128360.1 E9PKS8 E9PKS8_HUMAN retrotransposon-like 1 11 breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2) 21 GCTCCATCATCGTCTCAAATG 0.512000 5 32 0.184627 0.184627 1 1 0 DNAJC16 23341 broad.mit.edu 37 1 15886035 15886035 + Silent SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:15886035G>A ENST00000375847.3 + 8 1202 c.1038G>A c.(1036-1038)aaG>aaA p.K346K DNAJC16_ENST00000375838.1_Silent_p.K346K|DNAJC16_ENST00000375849.1_Silent_p.K346K NM_015291.2 NP_056106.1 Q9Y2G8 DJC16_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 16 346 cell redox homeostasis|protein folding integral to membrane heat shock protein binding|unfolded protein binding central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1) 18 Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657) GAGGTATGAAGAAGCAAATCA 0.423000 16 131 0 0 1 0 0 EHBP1L1 254102 broad.mit.edu 37 11 65350131 65350131 + Missense_Mutation SNP T T C TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr11:65350131T>C ENST00000309295.4 + 9 2253 c.1988T>C c.(1987-1989)gTt>gCt p.V663A NM_001099409.1 NP_001092879.1 Q8N3D4 EH1L1_HUMAN EH domain binding protein 1-like 1 663 Glu-rich. central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 23 GGTTCAGGAGTTTTGCAGACA 0.512000 5 55 0 0 1 0 0 SPTA1 6708 broad.mit.edu 37 1 158644451 158644451 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:158644451G>A ENST00000368148.3 - 9 1307 c.1127C>T c.(1126-1128)tCa>tTa p.S376L SPTA1_ENST00000368147.3_Missense_Mutation_p.S376L NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 376 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) AAAGTCAGATGAAAATCGATG 0.453000 43 170 0 0 1 0 0 POTEM 641455 broad.mit.edu 37 14 20019948 20019948 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr14:20019948C>T ENST00000551509.1 - 1 324 c.273G>A c.(271-273)atG>atA p.M91I NM_001145442.1 NP_001138914.1 A6NI47 POTEM_HUMAN POTE ankyrin domain family, member M 91 endometrium(4)|kidney(1)|lung(4) 9 TGAGTGTCTTCATAGCAGAGT 0.632000 45 696 0 0 1 0 0 APOBEC1 339 broad.mit.edu 37 12 7805253 7805253 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr12:7805253C>T ENST00000229304.4 - 3 243 c.223G>A c.(223-225)Gat>Aat p.D75N NM_001644.3 NP_001635.2 P41238 ABEC1_HUMAN apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1 75 cytidine to uridine editing|DNA demethylation|lipid metabolic process|mRNA modification|mRNA processing|negative regulation of methylation-dependent chromatin silencing nucleoplasm cytidine deaminase activity|RNA binding|zinc ion binding kidney(2)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1) 17 GGGTGAAAATCTCTTTCTGAC 0.478000 11 26 0 0 1 0 0 ASB14 142686 broad.mit.edu 37 3 57310699 57310699 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr3:57310699C>T ENST00000487349.1 - 10 1763 c.1643G>A c.(1642-1644)cGg>cAg p.R548Q ASB14_ENST00000389601.3_Missense_Mutation_p.R548Q NM_001142733.2|NM_130387.5 NP_001136205.2|NP_569058.1 A6NK59 ASB14_HUMAN ankyrin repeat and SOCS box containing 14 548 SOCS box. intracellular signal transduction central_nervous_system(1)|large_intestine(1)|lung(1)|skin(2) 5 KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127) CAAATGTAACCGTCCCATGCA 0.408000 18 43 0 0 1 0 0 APOB 338 broad.mit.edu 37 2 21225802 21225802 + Silent SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr2:21225802G>A ENST00000233242.1 - 29 12619 c.12492C>T c.(12490-12492)ttC>ttT p.F4164F NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 4164 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) TGAGTCCCTGGAAACTGGCTT 0.473000 40 98 0 0 1 0 0 CPE 1363 broad.mit.edu 37 4 166405617 166405617 + Silent SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr4:166405617C>T ENST00000402744.4 + 5 1114 c.834C>T c.(832-834)ttC>ttT p.F278F NM_001873.2 NP_001864.1 P16870 CBPE_HUMAN carboxypeptidase E 278 cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process extracellular region|nucleus|plasma membrane metallocarboxypeptidase activity|protein binding|zinc ion binding endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 26 all_hematologic(180;0.221) Prostate(90;0.0962)|Melanoma(52;0.18) GBM - Glioblastoma multiforme(119;0.137) Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) ACGCCATTTTCCAAAGCTTGG 0.493000 78 271 0 0 1 0 0 APOBEC1 339 broad.mit.edu 37 12 7805245 7805245 + Silent SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr12:7805245G>A ENST00000229304.4 - 3 251 c.231C>T c.(229-231)caC>caT p.H77H NM_001644.3 NP_001635.2 P41238 ABEC1_HUMAN apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1 77 cytidine to uridine editing|DNA demethylation|lipid metabolic process|mRNA modification|mRNA processing|negative regulation of methylation-dependent chromatin silencing nucleoplasm cytidine deaminase activity|RNA binding|zinc ion binding kidney(2)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1) 17 TCATGGATGGGTGAAAATCTC 0.488000 9 33 0 0 1 0 0 TUBBP1 92755 broad.mit.edu 37 8 30210057 30210057 + RNA SNP C C T rs146045069 by1000genomes TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr8:30210057C>T ENST00000518096.1 + 0 669 TGTCTGACACCGTGATCGAGT 0.488000 26 30 0 0 1 0 0 PRR14L 253143 broad.mit.edu 37 22 32097668 32097668 + Silent SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr22:32097668G>A ENST00000327423.6 - 7 6270 c.6081C>T c.(6079-6081)acC>acT p.T2027T PRR14L_ENST00000434485.1_Intron|PRR14L_ENST00000397493.2_Silent_p.T2027T NM_173566.2 NP_775837.2 Q5THK1 PR14L_HUMAN proline rich 14-like 2027 endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|skin(1)|urinary_tract(2) 14 GGCCCATGGGGGTAAGATTAG 0.423000 27 17 0 0 1 0 0 ROBO4 54538 broad.mit.edu 37 11 124765452 124765452 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr11:124765452G>A ENST00000306534.3 - 6 1422 c.937C>T c.(937-939)Ctc>Ttc p.L313F ROBO4_ENST00000533054.1_Missense_Mutation_p.L168F NM_019055.5 NP_061928.4 Q8WZ75 ROBO4_HUMAN roundabout, axon guidance receptor, homolog 4 (Drosophila) 313 Fibronectin type-III 1. angiogenesis|cell differentiation integral to membrane receptor activity NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3) 76 all_hematologic(175;0.215) Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301) CCCCAGTGGAGGCCTCCAAGC 0.652000 22 36 0 0 1 0 0 IFNA21 3452 broad.mit.edu 37 9 21166559 21166559 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr9:21166559G>A ENST00000380225.1 - 1 100 c.53C>T c.(52-54)tCc>tTc p.S18F NM_002175.2 NP_002166.2 P01568 IFN21_HUMAN interferon, alpha 21 18 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|cytokine receptor binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3) 14 GBM - Glioblastoma multiforme(5;1.93e-187)|Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13) AGAACAGATGGATTTGTAGCT 0.502000 15 65 0 0 1 0 0 ANKRD33 341405 broad.mit.edu 37 12 52283227 52283227 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr12:52283227G>A ENST00000301190.6 + 4 825 c.598G>A c.(598-600)Ggg>Agg p.G200R ANKRD33_ENST00000547119.1_3'UTR|ANKRD33_ENST00000538991.1_5'UTR|ANKRD33_ENST00000340970.4_Missense_Mutation_p.G65R NM_001130015.1|NM_182608.3 NP_001123487.1|NP_872414.3 Q7Z3H0 ANR33_HUMAN ankyrin repeat domain 33 65 endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1) 22 BRCA - Breast invasive adenocarcinoma(357;0.0969) GGACCAGCGGGGGCTCACGGC 0.657000 15 35 0 0 1 0 0 KITLG 4254 broad.mit.edu 37 12 88926236 88926236 + Silent SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr12:88926236G>A ENST00000347404.5 - 3 746 c.174C>T c.(172-174)gtC>gtT p.V58V KITLG_ENST00000378535.4_5'UTR|KITLG_ENST00000357116.4_Intron|KITLG_ENST00000228280.5_Silent_p.V58V NM_003994.5 NP_003985.2 P21583 SCF_HUMAN KIT ligand 58 cell adhesion|cell proliferation|hemopoiesis|male gonad development|positive regulation of DNA replication|signal transduction cytoplasm|cytoskeleton|integral to membrane|plasma membrane growth factor activity|identical protein binding|stem cell factor receptor binding kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1) 9 CCATCCCGGGGACATATTTGA 0.323000 Testicular Cancer, Familial Clustering of 21 64 0 0 1 0 0 RPRD2 23248 broad.mit.edu 37 1 150445153 150445153 + Silent SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:150445153C>T ENST00000401000.4 + 10 3716 c.3651C>T c.(3649-3651)ccC>ccT p.P1217P RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000369068.4_Silent_p.P1243P Q5VT52 RPRD2_HUMAN regulation of nuclear pre-mRNA domain containing 2 1243 Pro-rich. protein binding central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 TTTCGAACCCCTTCACAAAGG 0.597000 10 203 0 0 1 0 0 SEMG1 6406 broad.mit.edu 37 20 43836434 43836434 + Silent SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr20:43836434C>T ENST00000372781.3 + 2 553 c.496C>T c.(496-498)Ctg>Ttg p.L166L SEMG1_ENST00000244069.6_Silent_p.L166L NM_003007.3 NP_002998.1 semenogelin I cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1) 32 Myeloproliferative disorder(115;0.0122) AGAAGAAAGGCTGTGGGTTCA 0.438000 26 84 0 0 1 0 0 TLL1 7092 broad.mit.edu 37 4 166986937 166986937 + Nonsense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr4:166986937C>T ENST00000061240.2 + 16 2757 c.2110C>T c.(2110-2112)Cag>Tag p.Q704* TLL1_ENST00000507499.1_Nonsense_Mutation_p.Q727* NM_012464.4 NP_036596.3 O43897 TLL1_HUMAN tolloid-like 1 704 CUB 3. cell differentiation|proteolysis|skeletal system development extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 all_hematologic(180;0.221) Melanoma(52;0.0315)|Prostate(90;0.0405) GBM - Glioblastoma multiforme(119;0.103) GATCACATCCCAGTTCAACAA 0.393000 24 94 0 0 1 0 0 COL26A1 136227 broad.mit.edu 37 7 101200654 101200654 + RNA SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr7:101200654C>T ENST00000313669.7 + 0 1361 COL26A1_ENST00000397927.3_RNA|COL26A1_ENST00000528707.1_RNA NM_133457.2 NP_597714.2 collagen, type XXVI, alpha 1 CTTCCAGATCCCCTGGCCTCC 0.597000 11 24 0 0 1 0 0 SCN1A 6323 broad.mit.edu 37 2 166894589 166894589 + Silent SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr2:166894589C>T ENST00000423058.2 - 15 2660 c.2643G>A c.(2641-2643)aaG>aaA p.K881K SCN1A_ENST00000409050.1_Silent_p.K853K|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000375405.3_Silent_p.K870K|SCN1A_ENST00000303395.4_Silent_p.K881K|AC010127.3_ENST00000595268.1_RNA NM_001165963.1|NM_001202435.1 NP_001159435.1|NP_001189364.1 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha subunit 881 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) TGCCGATGATCTTTATTAGCA 0.398000 23 65 0 0 1 0 0 OR4K2 390431 broad.mit.edu 37 14 20345115 20345115 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr14:20345115C>T ENST00000298642.2 + 1 725 c.689C>T c.(688-690)tCc>tTc p.S230F NM_001005501.1 NP_001005501.1 Q8NGD2 OR4K2_HUMAN olfactory receptor, family 4, subfamily K, member 2 230 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2) 43 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) CATCATTCTTCCAGAGGATCA 0.383000 20 350 0 0 1 0 0 KIAA1210 57481 broad.mit.edu 37 X 118222028 118222028 + Silent SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chrX:118222028G>A ENST00000402510.2 - 11 3164 c.3165C>T c.(3163-3165)tcC>tcT p.S1055S NM_020721.1 NP_065772.1 Q9ULL0 K1210_HUMAN KIAA1210 1055 breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 64 CCGAGGGCTGGGAAAGGCATC 0.532000 35 176 0 0 1 0 0 NLRP5 126206 broad.mit.edu 37 19 56539567 56539567 + Silent SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr19:56539567C>T ENST00000390649.3 + 7 1968 c.1968C>T c.(1966-1968)ccC>ccT p.P656P NM_153447.4 NP_703148.4 P59047 NALP5_HUMAN NLR family, pyrin domain containing 5 656 mitochondrion|nucleolus ATP binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2) 25 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) TGGGCTGTCCCGTTCCCCTGG 0.592000 14 77 0 0 1 0 0 HNRNPH1 3187 broad.mit.edu 37 5 179044567 179044567 + Silent SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr5:179044567G>A ENST00000356731.5 - 8 2540 c.1005C>T c.(1003-1005)ttC>ttT p.F335F HNRNPH1_ENST00000511300.2_Silent_p.F65F|HNRNPH1_ENST00000510411.1_Silent_p.F335F|HNRNPH1_ENST00000442819.2_Silent_p.F335F|HNRNPH1_ENST00000393432.4_Silent_p.F335F|HNRNPH1_ENST00000329433.6_Silent_p.F335F P31943 HNRH1_HUMAN heterogeneous nuclear ribonucleoprotein H1 (H) 335 2 X 16 AA Gly-rich approximate repeats.|RRM 3. regulation of RNA splicing actin cytoskeleton|catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|poly(U) RNA binding|protein binding breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|skin(1) 14 CATGAGTTGCGAACTCGACAT 0.438000 78 91 0 0 1 0 0 UMODL1 89766 broad.mit.edu 37 21 43496189 43496189 + Missense_Mutation SNP T T C TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr21:43496189T>C ENST00000408989.2 + 2 152 c.152T>C c.(151-153)gTg>gCg p.V51A UMODL1_ENST00000400427.1_5'UTR|UMODL1_ENST00000400424.1_5'UTR|UMODL1_ENST00000408910.2_Missense_Mutation_p.V51A NM_173568.3 NP_775839.3 Q5DID0 UROL1_HUMAN uromodulin-like 1 51 EMI. cytoplasm|extracellular region|integral to membrane|plasma membrane calcium ion binding|peptidase inhibitor activity breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 47 GTGGAGGCCGTGCAGACGTCC 0.592000 53 116 0 0 1 0 0 ELMO1 9844 broad.mit.edu 37 7 37298927 37298927 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr7:37298927C>T ENST00000310758.4 - 6 919 c.272G>A c.(271-273)cGa>cAa p.R91Q ELMO1_ENST00000448602.1_Missense_Mutation_p.R91Q|ELMO1_ENST00000442504.1_Missense_Mutation_p.R91Q NM_001206480.1|NM_014800.10 NP_001193409.1|NP_055615.8 Q92556 ELMO1_HUMAN engulfment and cell motility 1 91 actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|plasma membrane SH3 domain binding breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 58 GGACTGGATTCGTTCATGGAG 0.502000 32 54 0 0 1 0 0 RPTN 126638 broad.mit.edu 37 1 152129231 152129231 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:152129231C>T ENST00000316073.3 - 3 408 c.344G>A c.(343-345)gGa>gAa p.G115E NM_001122965.1 NP_001116437.1 Q6XPR3 RPTN_HUMAN repetin 115 Gln-rich. proteinaceous extracellular matrix calcium ion binding breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 59 GCCTGTGTTTCCTGGGAACTT 0.527000 109 425 0 0 1 0 0 BTNL3 10917 broad.mit.edu 37 5 180432752 180432752 + Silent SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr5:180432752C>T ENST00000342868.6 + 8 1465 c.1281C>T c.(1279-1281)tcC>tcT p.S427S NM_197975.2 NP_932079.1 Q6UXE8 BTNL3_HUMAN butyrophilin-like 3 427 B30.2/SPRY. lipid metabolic process integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1) 25 all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114) all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272) ATGACCAGTCCCTTATTTATA 0.483000 11 60 0 0 1 0 0 WEE2 494551 broad.mit.edu 37 7 141408896 141408896 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr7:141408896C>T ENST00000397541.2 + 1 744 c.338C>T c.(337-339)cCc>cTc p.P113L WEE2-AS1_ENST00000488785.1_RNA NM_001105558.1 NP_001099028.1 P0C1S8 WEE2_HUMAN WEE1 homolog 2 (S. pombe) 113 egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I centrosome|nucleus ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1) 31 Melanoma(164;0.0171) CCCTCTACTCCCAAAGTAAGT 0.522000 26 102 0 0 1 0 0 ZNRF4 148066 broad.mit.edu 37 19 5456251 5456251 + Missense_Mutation SNP C C A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr19:5456251C>A ENST00000222033.4 + 1 826 c.749C>A c.(748-750)cCc>cAc p.P250H NM_181710.3 NP_859061.3 Q8WWF5 ZNRF4_HUMAN zinc and ring finger 4 250 integral to membrane zinc ion binding NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 UCEC - Uterine corpus endometrioid carcinoma (162;0.0002) GGCTGTCACCCCGTGCTGACC 0.687000 16 72 2.62699e-14 2.69004e-14 1 1 0 ATP8B4 79895 broad.mit.edu 37 15 50212607 50212607 + Splice_Site SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr15:50212607C>T ENST00000284509.6 - 18 1900 c.1758_splice c.e18-1 p.E587_splice ATP8B4_ENST00000559829.1_Splice_Site_p.E587_splice NM_024837.2 NP_079113.2 Q8TF62 AT8B4_HUMAN ATPase, class I, type 8B, member 4 587 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1) 73 all_lung(180;0.00183) all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05) CCTGCAAATTCCTGCCAGAGA 0.403000 11 27 0 0 1 0 0 CXorf61 203413 broad.mit.edu 37 X 115594041 115594041 + Translation_Start_Site SNP C C A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chrX:115594041C>A ENST00000371894.4 - 0 123 NM_001017978.2 NP_001017978.1 Q5H943 KKLC1_HUMAN chromosome X open reading frame 61 integral to membrane|plasma membrane breast(1)|large_intestine(3)|lung(8) 12 CCTCTTCTCCCTTCTCGGGAC 0.537000 8 72 0.00307968 0.00309003 1 1 0 MAP1A 4130 broad.mit.edu 37 15 43819244 43819244 + Missense_Mutation SNP C C T rs145090986 by1000genomes TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr15:43819244C>T ENST00000382031.1 + 5 6318 c.6287C>T c.(6286-6288)tCc>tTc p.S2096F MAP1A_ENST00000300231.5_Missense_Mutation_p.S1858F|MAP1A_ENST00000399453.1_Missense_Mutation_p.S1858F P78559 MAP1A_HUMAN microtubule-associated protein 1A 1858 cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 66 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.05e-06) Estramustine(DB01196) GCACCCCTCTCCCCAGCTCCT 0.627000 18 21 0 0 1 0 0 GPR112 139378 broad.mit.edu 37 X 135427903 135427903 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chrX:135427903G>A ENST00000394143.1 + 6 2329 c.2038G>A c.(2038-2040)Gaa>Aaa p.E680K GPR112_ENST00000412101.1_Missense_Mutation_p.E475K|GPR112_ENST00000370652.1_Missense_Mutation_p.E680K|GPR112_ENST00000394141.1_Missense_Mutation_p.E475K|GPR112_ENST00000287534.4_Missense_Mutation_p.E617K NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 680 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) TGTGCCTAATGAAAATTTTAC 0.433000 18 98 0 0 1 0 0 LOC645752 645752 broad.mit.edu 37 15 78211328 78211328 + RNA SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr15:78211328C>T ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA TGCAGCCTCTCACCCTGCTCC 0.592000 109 241 0 0 1 0 0 PKP3 11187 broad.mit.edu 37 11 404102 404102 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr11:404102G>A ENST00000331563.2 + 11 2313 c.2237G>A c.(2236-2238)cGa>cAa p.R746Q NM_007183.2 NP_009114.1 Q9Y446 PKP3_HUMAN plakophilin 3 746 cell adhesion desmosome|nucleus binding breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703) GACGGACTCCGAAAGCTCATC 0.612000 37 68 0 0 1 0 0 PLXNB1 5364 broad.mit.edu 37 3 48456735 48456735 + Silent SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr3:48456735G>A ENST00000358536.4 - 20 4085 c.3816C>T c.(3814-3816)gtC>gtT p.V1272V PLXNB1_ENST00000296440.6_Silent_p.V1272V|PLXNB1_ENST00000456774.1_Silent_p.V1089V|PLXNB1_ENST00000358459.4_Silent_p.V1089V|PLXNB1_ENST00000465117.1_5'UTR|PLXNB1_ENST00000448774.2_Intron NM_002673.4 NP_002664.2 O43157 PLXB1_HUMAN plexin B1 1272 IPT/TIG 3. axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 47 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) TCTGGCCACGGACGCATATCT 0.587000 13 27 0 0 1 0 0 FAM47C 442444 broad.mit.edu 37 X 37026933 37026933 + Silent SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chrX:37026933G>A ENST00000358047.3 + 1 502 c.450G>A c.(448-450)ctG>ctA p.L150L NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 150 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 TACAGGTACTGAAACCGCTGG 0.557000 27 76 0 0 1 0 0 LZTS3 9762 broad.mit.edu 37 20 3146945 3146945 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr20:3146945G>A ENST00000329152.3 - 2 1918 c.521C>T c.(520-522)tCc>tTc p.S174F LZTS3_ENST00000337576.5_Missense_Mutation_p.S174F|LZTS3_ENST00000360342.3_Missense_Mutation_p.S174F NM_014731.2 NP_055546.1 ATTCTGCATGGAGTGGAAATT 0.607000 5 23 0 0 1 0 0 MROH6 642475 broad.mit.edu 37 8 144650795 144650795 + Missense_Mutation SNP A A T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr8:144650795A>T ENST00000398882.3 - 10 1827 c.1571T>A c.(1570-1572)cTg>cAg p.L524Q MROH6_ENST00000534459.1_5'UTR|MROH6_ENST00000524906.1_5'UTR|MROH6_ENST00000533679.1_5'UTR NM_001100878.1 NP_001094348.1 maestro heat-like repeat family member 6 CAGCTTCCGCAgggggccgcg 0.736000 2 2 0 0 1 0 0 EXTL3 2137 broad.mit.edu 37 8 28574334 28574334 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr8:28574334C>T ENST00000220562.4 + 3 1660 c.758C>T c.(757-759)cCt>cTt p.P253L EXTL3_ENST00000523149.1_Intron|EXTL3_ENST00000519886.1_Intron NM_001440.2 NP_001431.1 O43909 EXTL3_HUMAN exostosin-like glycosyltransferase 3 253 integral to membrane|intrinsic to endoplasmic reticulum membrane glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1) 36 Ovarian(32;0.069) KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228) GTGCTGCGGCCTGCTGAGCTG 0.522000 15 57 0 0 1 0 0 UNC13C 440279 broad.mit.edu 37 15 54624244 54624244 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr15:54624244G>A ENST00000545554.1 + 14 4429 c.4429G>A c.(4429-4431)Gaa>Aaa p.E1477K UNC13C_ENST00000260323.11_Missense_Mutation_p.E1477K|UNC13C_ENST00000537900.1_Missense_Mutation_p.E1475K Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 1477 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) TGTACAGAGGGAAAAATTCAT 0.318000 2 0 0 0 1 0 0 HMGCS2 3158 broad.mit.edu 37 1 120307048 120307048 + Silent SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:120307048G>A ENST00000369406.3 - 2 355 c.306C>T c.(304-306)atC>atT p.I102I HMGCS2_ENST00000476640.1_5'UTR|HMGCS2_ENST00000544913.2_Silent_p.I102I NM_005518.3 NP_005509.1 P54868 HMCS2_HUMAN 3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial) 102 acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process mitochondrial matrix hydroxymethylglutaryl-CoA synthase activity NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 28 all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219) all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124) Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595) ACAGGGAGTTGATGTCCTCTT 0.547000 63 98 0 0 1 0 0 UBD 10537 broad.mit.edu 37 6 29523699 29523699 + Silent SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr6:29523699C>T ENST00000377050.4 - 2 679 c.456G>A c.(454-456)aaG>aaA p.K152K GABBR1_ENST00000355973.3_3'UTR NM_006398.3 NP_006389.2 O15205 UBD_HUMAN ubiquitin D 152 Ubiquitin 2. aggresome assembly|myeloid dendritic cell differentiation|negative regulation of mitotic prometaphase|positive regulation of apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process aggresome|cytoplasm|nucleus proteasome binding kidney(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 6 GTAAGTTGCCCTTTCTGATGC 0.463000 27 80 0 0 1 0 0 MYBL2 4605 broad.mit.edu 37 20 42331466 42331466 + Silent SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr20:42331466C>T ENST00000217026.4 + 8 1415 c.1288C>T c.(1288-1290)Ctg>Ttg p.L430L MYBL2_ENST00000396863.4_Silent_p.L406L NM_002466.2 NP_002457.1 P10244 MYBB_HUMAN v-myb avian myeloblastosis viral oncogene homolog-like 2 430 nucleus DNA binding|sequence-specific DNA binding transcription factor activity endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 46 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.0031) TAGCACCAGTCTGTCCTTCCT 0.612000 12 97 0 0 1 0 0 TRDMT1 1787 broad.mit.edu 37 10 17201180 17201180 + Nonsense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr10:17201180G>A ENST00000377799.3 - 7 555 c.508C>T c.(508-510)Cag>Tag p.Q170* TRDMT1_ENST00000351358.4_Nonsense_Mutation_p.Q124*|TRDMT1_ENST00000488990.1_Intron|TRDMT1_ENST00000457442.2_Nonsense_Mutation_p.Q89*|TRDMT1_ENST00000377766.5_Missense_Mutation_p.S98L|TRDMT1_ENST00000358282.7_3'UTR|TRDMT1_ENST00000452380.2_5'UTR|TRDMT1_ENST00000412821.3_Nonsense_Mutation_p.Q146* NM_004412.5 NP_004403.1 O14717 TRDMT_HUMAN tRNA aspartic acid methyltransferase 1 170 tRNA processing nucleus DNA (cytosine-5-)-methyltransferase activity|DNA binding|RNA binding breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(1)|prostate(1) 18 GGCTCTGACTGAAGCTTTGCA 0.328000 24 80 0 0 1 0 0 KCNB2 9312 broad.mit.edu 37 8 73848650 73848650 + Missense_Mutation SNP T T A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr8:73848650T>A ENST00000523207.1 + 3 1648 c.1060T>A c.(1060-1062)Ttt>Att p.F354I NM_004770.2 NP_004761.2 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 2 354 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 85 Breast(64;0.137) Epithelial(68;0.105) CAGCCTGGTATTTTTTGCTGA 0.463000 25 220 0 0 1 0 0 ABCA5 23461 broad.mit.edu 37 17 67305454 67305454 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr17:67305454G>A ENST00000392676.3 - 4 482 c.418C>T c.(418-420)Cgt>Tgt p.R140C ABCA5_ENST00000588877.1_Missense_Mutation_p.R140C|ABCA5_ENST00000392677.2_Missense_Mutation_p.R140C Q8WWZ7 ABCA5_HUMAN ATP-binding cassette, sub-family A (ABC1), member 5 140 cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane ATP binding|ATPase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 54 Breast(10;3.72e-11) GGAAAAAAACGAAGTTCATAG 0.328000 14 47 0 0 1 0 0 COL14A1 7373 broad.mit.edu 37 8 121209082 121209082 + Silent SNP C C T rs149492812 TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr8:121209082C>T ENST00000297848.3 + 6 759 c.489C>T c.(487-489)gtC>gtT p.V163V COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000309791.4_Silent_p.V163V|COL14A1_ENST00000537875.1_Silent_p.V163V|COL14A1_ENST00000247781.3_Silent_p.V163V NM_021110.1 NP_066933.1 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 163 VWFA 1. cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 119 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) TAATCCTGGTCGATGGTTCAT 0.438000 99 98 0 0 1 0 0 TMEM132B 114795 broad.mit.edu 37 12 126004054 126004054 + Silent SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr12:126004054G>A ENST00000299308.3 + 4 1169 c.1161G>A c.(1159-1161)ggG>ggA p.G387G NM_052907.2 NP_443139.2 Q14DG7 T132B_HUMAN transmembrane protein 132B 387 integral to membrane NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1) 107 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) ACCTGGCTGGGGCCCAGCAGA 0.493000 19 70 0 0 1 0 0 NRXN1 9378 broad.mit.edu 37 2 51254841 51254841 + Missense_Mutation SNP A A C TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr2:51254841A>C ENST00000404971.1 - 2 1910 c.571T>G c.(571-573)Tcc>Gcc p.S191A NRXN1_ENST00000405581.1_Missense_Mutation_p.S191A|NRXN1_ENST00000402717.3_Missense_Mutation_p.S191A|NRXN1_ENST00000401669.2_Missense_Mutation_p.S191A|NRXN1_ENST00000406859.3_Missense_Mutation_p.S191A|NRXN1_ENST00000405472.3_Missense_Mutation_p.S191A|NRXN1_ENST00000406316.2_Missense_Mutation_p.S191A NM_001135659.1 NP_001129131.1 Q9ULB1 NRX1A_HUMAN neurexin 1 191 Laminin G-like 1. adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition cell surface|integral to plasma membrane metal ion binding|protein binding|receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 58 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) ACCTGCGAGGAGTTGACCCTC 0.716000 3 14 0 0 1 0 0 ANKHD1 54882 broad.mit.edu 37 5 139876829 139876829 + Silent SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr5:139876829G>A ENST00000297183.6 + 15 3094 c.2970G>A c.(2968-2970)caG>caA p.Q990Q ANKHD1-EIF4EBP3_ENST00000532219.1_Silent_p.Q990Q|ANKHD1_ENST00000462121.1_3'UTR|ANKHD1_ENST00000360839.2_Silent_p.Q990Q NM_020690.5 NP_065741.3 ankyrin repeat and KH domain containing 1 breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTCCAGCTCAGACGCTTACCG 0.418000 20 117 0 0 1 0 0 HEXA 3073 broad.mit.edu 37 15 72641531 72641531 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr15:72641531G>A ENST00000268097.5 - 8 1378 c.875C>T c.(874-876)cCc>cTc p.P292L HEXA_ENST00000457859.2_Missense_Mutation_p.P100L|RP11-106M3.2_ENST00000379915.4_RNA|HEXA_ENST00000567159.1_Missense_Mutation_p.P292L|RP11-106M3.3_ENST00000570175.1_RNA|HEXA_ENST00000566304.1_Missense_Mutation_p.P303L|HEXA_ENST00000429918.2_Missense_Mutation_p.P119L NM_000520.4 NP_000511.2 P06865 HEXA_HUMAN hexosaminidase A (alpha polypeptide) 292 cell death lysosome beta-N-acetylhexosaminidase activity|cation binding|protein heterodimerization activity breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 24 ATTGAGACTGGGATTCACTGG 0.453000 24 42 0 0 1 0 0 OR2M2 391194 broad.mit.edu 37 1 248343404 248343404 + Silent SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:248343404C>T ENST00000359682.2 + 1 117 c.117C>T c.(115-117)ttC>ttT p.F39F NM_001004688.1 NP_001004688.1 Q96R28 OR2M2_HUMAN olfactory receptor, family 2, subfamily M, member 2 39 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3) 70 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;0.0245) TAGTGGCCTTCATGGGAAACT 0.522000 250 376 0 0 1 0 0 DENND1C 79958 broad.mit.edu 37 19 6477418 6477418 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr19:6477418C>T ENST00000381480.2 - 7 530 c.418G>A c.(418-420)Ggg>Agg p.G140R DENND1C_ENST00000543576.1_Missense_Mutation_p.G96R|DENND1C_ENST00000591030.1_5'UTR NM_024898.2 NP_079174.2 Q8IV53 DEN1C_HUMAN DENN/MADD domain containing 1C 140 DENN. clathrin-coated vesicle|cytosol guanyl-nucleotide exchange factor activity endometrium(3)|kidney(3)|large_intestine(1)|lung(3) 10 GCCTGGGGCCCAGACAGGGAC 0.622000 9 28 0 0 1 0 0 SDC1 6382 broad.mit.edu 37 2 20403822 20403822 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr2:20403822C>T ENST00000381150.1 - 4 769 c.379G>A c.(379-381)Gag>Aag p.E127K SDC1_ENST00000403076.1_Missense_Mutation_p.E127K|SDC1_ENST00000254351.4_Missense_Mutation_p.E127K|SDC1_ENST00000482879.1_5'UTR NM_001006946.1 NP_001006947.1 P18827 SDC1_HUMAN syndecan 1 127 lipid metabolic process|lipoprotein metabolic process|myoblast development|striated muscle cell development cytoplasm|extracellular region|focal adhesion|integral to plasma membrane cytoskeletal protein binding|protein C-terminus binding NS(1)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|skin(2) 21 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) OV - Ovarian serous cystadenocarcinoma(76;0.221) TGTGTGGTCTCCCTGGGTCGG 0.706000 26 62 0 0 1 0 0 VN1R2 317701 broad.mit.edu 37 19 53761859 53761859 + Silent SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr19:53761859C>T ENST00000341702.3 + 1 315 c.231C>T c.(229-231)gtC>gtT p.V77V NM_173856.2 NP_776255.2 Q8NFZ6 VN1R2_HUMAN vomeronasal 1 receptor 2 77 response to pheromone integral to membrane|plasma membrane pheromone receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 31 GBM - Glioblastoma multiforme(134;0.00301) actctcttgtctctgcacacg 0.473000 8 14 0 0 1 0 0 TRAV10 28676 broad.mit.edu 37 14 22293953 22293953 + RNA SNP G G A rs145164516 by1000genomes TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr14:22293953G>A ENST00000390432.2 + 0 93 GAATAGGGGGGAATGGCAAAA 0.443000 12 31 0 0 1 0 0 SPTBN4 57731 broad.mit.edu 37 19 41010021 41010021 + Silent SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr19:41010021C>T ENST00000352632.3 + 12 1733 c.1647C>T c.(1645-1647)gaC>gaT p.D549D SPTBN4_ENST00000595535.1_Silent_p.D549D|SPTBN4_ENST00000344104.3_Silent_p.D549D|SPTBN4_ENST00000338932.3_Silent_p.D549D|SPTBN4_ENST00000598249.1_Silent_p.D549D Q9H254 SPTN4_HUMAN spectrin, beta, non-erythrocytic 4 549 actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport cytosol|nuclear matrix|PML body|spectrin actin binding|ankyrin binding|structural constituent of cytoskeleton breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 73 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) ACATGGTGGACTGGATGGAGG 0.632000 12 47 0 0 1 0 0 FGD1 2245 broad.mit.edu 37 X 54496497 54496497 + Silent SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chrX:54496497C>T ENST00000375135.3 - 4 1786 c.1053G>A c.(1051-1053)aaG>aaA p.K351K NM_004463.2 NP_004454.2 P98174 FGD1_HUMAN FYVE, RhoGEF and PH domain containing 1 351 actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 39 TTTCTCTGtccttctcttcct 0.602000 23 18 0 0 1 0 0 PPAP2B 8613 broad.mit.edu 37 1 56990214 56990214 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:56990214C>T ENST00000371250.3 - 3 861 c.310G>A c.(310-312)Gaa>Aaa p.E104K NM_003713.4 NP_003704.3 O14495 LPP3_HUMAN phosphatidic acid phosphatase type 2B 104 canonical Wnt receptor signaling pathway involved in positive regulation of cell-cell adhesion|canonical Wnt receptor signaling pathway involved in positive regulation of endothelial cell migration|canonical Wnt receptor signaling pathway involved in positive regulation of wound healing|germ cell migration|homotypic cell-cell adhesion|negative regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|sphingolipid metabolic process adherens junction|Golgi apparatus|integral to membrane phosphatidate phosphatase activity|phosphoprotein phosphatase activity|protein binding|sphingosine-1-phosphate phosphatase activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 CGGTAGAATTCCCCCGTGATG 0.473000 14 37 0 0 1 0 0 NCKAP5 344148 broad.mit.edu 37 2 133542749 133542749 + Silent SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr2:133542749G>A ENST00000409261.1 - 14 2008 c.1635C>T c.(1633-1635)ccC>ccT p.P545P NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Silent_p.P545P NM_207363.2 NP_997246.2 O14513 NCKP5_HUMAN NCK-associated protein 5 545 protein binding NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 118 TCATCTCTAAGGGACAGCTGC 0.562000 47 104 0 0 1 0 0 TRPC7 57113 broad.mit.edu 37 5 135692398 135692398 + Silent SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr5:135692398C>T ENST00000513104.1 - 2 960 c.678G>A c.(676-678)gcG>gcA p.A226A TRPC7_ENST00000426057.2_Silent_p.A226A|TRPC7_ENST00000355180.3_Silent_p.A226A NM_020389.2 NP_065122.1 Q9HCX4 TRPC7_HUMAN transient receptor potential cation channel, subfamily C, member 7 226 axon guidance|platelet activation integral to membrane|plasma membrane calcium channel activity|protein binding NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3) 46 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) AGGCAGCACTCGCCAGTCCTT 0.557000 11 15 0 0 1 0 0 COG8 84342 broad.mit.edu 37 16 69370420 69370420 + Silent SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr16:69370420G>A ENST00000306875.4 - 2 687 c.573C>T c.(571-573)atC>atT p.I191I RP11-343C2.7_ENST00000564737.1_3'UTR|RP11-343C2.9_ENST00000563634.1_Silent_p.I66I|COG8_ENST00000562081.1_Silent_p.I191I NM_032382.4 NP_115758.3 Q96MW5 COG8_HUMAN component of oligomeric golgi complex 8 191 protein transport Golgi membrane|Golgi transport complex breast(3)|kidney(1)|large_intestine(2)|ovary(2)|skin(1) 9 GGATGACAGGGATGGAAGAGT 0.483000 10 25 0 0 1 0 0 RAD9A 5883 broad.mit.edu 37 11 67159653 67159653 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr11:67159653C>T ENST00000307980.2 + 2 149 c.56C>T c.(55-57)tCc>tTc p.S19F NM_001243224.1|NM_004584.2 NP_001230153.1|NP_004575.1 Q99638 RAD9A_HUMAN RAD9 homolog A (S. pombe) 19 DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint nucleoplasm 3'-5' exonuclease activity|exodeoxyribonuclease III activity|histone deacetylase binding|protein kinase binding|SH3 domain binding p.S19F(1) lung(7)|upper_aerodigestive_tract(1) 8 BRCA - Breast invasive adenocarcinoma(15;8.53e-07) GCCGTCCACTCCCTGTCCCGC 0.716000 Other conserved DNA damage response genes 6 15 0 0 1 0 0 OR13C2 392376 broad.mit.edu 37 9 107367371 107367371 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr9:107367371C>T ENST00000542196.1 - 1 580 c.538G>A c.(538-540)Gaa>Aaa p.E180K NM_001004481.1 NP_001004481.1 Q8NGS9 O13C2_HUMAN olfactory receptor, family 13, subfamily C, member 2 180 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 22 GCCAGAATTTCACAGGTGAAA 0.418000 24 132 0 0 1 0 0 DLGAP3 58512 broad.mit.edu 37 1 35334325 35334325 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:35334325G>A ENST00000373347.1 - 9 2634 c.2366C>T c.(2365-2367)tCc>tTc p.S789F DLGAP3_ENST00000235180.4_Missense_Mutation_p.S789F O95886 DLGP3_HUMAN discs, large (Drosophila) homolog-associated protein 3 789 cell-cell signaling cell junction|postsynaptic density|postsynaptic membrane central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1) 46 Myeloproliferative disorder(586;0.0393) TGGGCAGGGGGATGCGCGGCC 0.721000 28 24 0 0 1 0 0 CYP4A11 1579 broad.mit.edu 37 1 47398436 47398436 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:47398436G>A ENST00000310638.4 - 11 1392 c.1361C>T c.(1360-1362)tCa>tTa p.S454L CYP4A11_ENST00000371905.1_Missense_Mutation_p.S454L|CYP4A11_ENST00000475477.1_5'UTR|CYP4A11_ENST00000371904.4_Missense_Mutation_p.S455L NM_000778.3 NP_000769.2 Q02928 CP4AB_HUMAN cytochrome P450, family 4, subfamily A, polypeptide 11 454 long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2) 36 NADH(DB00157) GTCTCACCTTGATCCTCCTGA 0.512000 54 310 0 0 1 0 0 ACAN 176 broad.mit.edu 37 15 89400231 89400231 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr15:89400231C>T ENST00000439576.2 + 12 4789 c.4415C>T c.(4414-4416)tCt>tTt p.S1472F ACAN_ENST00000352105.7_Missense_Mutation_p.S1472F|ACAN_ENST00000559004.1_Missense_Mutation_p.S1472F|ACAN_ENST00000561243.1_Missense_Mutation_p.S1472F NM_013227.3 NP_037359.3 E7EX88 E7EX88_HUMAN aggrecan 1472 cell adhesion hyaluronic acid binding|sugar binding NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) GGACTTCCTTCTGGAGGAGAA 0.517000 50 122 0 0 1 0 0 BEST1 7439 broad.mit.edu 37 11 61727429 61727429 + Nonsense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr11:61727429G>A ENST00000449131.2 + 8 920 c.834G>A c.(832-834)tgG>tgA p.W278* BEST1_ENST00000526988.1_Missense_Mutation_p.G300E|BEST1_ENST00000301774.9_Intron|FTH1_ENST00000529631.1_Intron|BEST1_ENST00000435278.2_Intron|FTH1_ENST00000529191.1_Intron|BEST1_ENST00000534553.1_Intron|BEST1_ENST00000378042.3_Nonsense_Mutation_p.W251*|BEST1_ENST00000378043.4_Nonsense_Mutation_p.W338* NM_001139443.1 NP_001132915.1 O76090 BEST1_HUMAN bestrophin 1 338 response to stimulus|transepithelial chloride transport|visual perception basolateral plasma membrane|chloride channel complex|cytosol|membrane fraction chloride channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|urinary_tract(2) 25 ACATGTACTGGAATAAGCCCG 0.597000 5 11 0 0 1 0 0 NALCN 259232 broad.mit.edu 37 13 101707749 101707749 + Silent SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr13:101707749G>A ENST00000251127.6 - 44 5196 c.5115C>T c.(5113-5115)ccC>ccT p.P1705P NALCN-AS1_ENST00000457843.1_RNA NM_052867.2 NP_443099.1 Q8IZF0 NALCN_HUMAN sodium leak channel, non-selective 1705 integral to membrane sodium channel activity|voltage-gated ion channel activity NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 177 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) CGTCAGTCATGGGGTTCATTT 0.502000 30 132 0 0 1 0 0 LTF 4057 broad.mit.edu 37 3 46486834 46486834 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr3:46486834C>T ENST00000231751.4 - 12 1746 c.1451G>A c.(1450-1452)aGg>aAg p.R484K LTF_ENST00000417439.1_Missense_Mutation_p.R482K|LTF_ENST00000426532.2_Missense_Mutation_p.R440K NM_002343.3 NP_002334.2 P02788 TRFL_HUMAN lactotransferrin 484 Transferrin-like 2. cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport extracellular region|stored secretory granule ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 40 all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089) Pefloxacin(DB00487) GCCTGCAGTCCTGTCCACGGC 0.567000 25 65 0 0 1 0 0 WRAP53 55135 broad.mit.edu 37 17 7605013 7605013 + Silent SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr17:7605013G>A ENST00000316024.5 + 6 3209 c.861G>A c.(859-861)ccG>ccA p.P287P WRAP53_ENST00000457584.2_Silent_p.P287P|WRAP53_ENST00000396463.2_Silent_p.P287P|WRAP53_ENST00000534050.1_Silent_p.P254P|WRAP53_ENST00000431639.2_Silent_p.P287P Q9BUR4 WAP53_HUMAN WD repeat containing, antisense to TP53 287 positive regulation of telomerase activity|telomere formation via telomerase Cajal body|cytoplasm|telomerase holoenzyme complex protein binding|RNA binding endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2) 18 GCTTCTCCCCGGATGGCTCCC 0.602000 23 60 0 0 1 0 0 OR2A2 442361 broad.mit.edu 37 7 143807096 143807096 + Missense_Mutation SNP A A T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr7:143807096A>T ENST00000408979.2 + 1 490 c.421A>T c.(421-423)Acg>Tcg p.T141S NM_001005480.2 NP_001005480.2 Q6IF42 OR2A2_HUMAN olfactory receptor, family 2, subfamily A, member 2 141 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4) 22 Melanoma(164;0.0783) GAGAGTGTGCACGATCCTGGT 0.517000 41 115 0 0 1 0 0 GPR149 344758 broad.mit.edu 37 3 154145317 154145317 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr3:154145317C>T ENST00000389740.2 - 2 1261 c.1162G>A c.(1162-1164)Gat>Aat p.D388N NM_001038705.1 NP_001033794.1 Q86SP6 GP149_HUMAN G protein-coupled receptor 149 388 integral to membrane|plasma membrane G-protein coupled receptor activity autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2) 47 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) TTTTTCCCATCGGACGCCACT 0.483000 18 47 0 0 1 0 0 MAP1A 4130 broad.mit.edu 37 15 43819245 43819245 + Silent SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr15:43819245C>T ENST00000382031.1 + 5 6319 c.6288C>T c.(6286-6288)tcC>tcT p.S2096S MAP1A_ENST00000300231.5_Silent_p.S1858S|MAP1A_ENST00000399453.1_Silent_p.S1858S P78559 MAP1A_HUMAN microtubule-associated protein 1A 1858 cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity p.S1858S(1) breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 66 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.05e-06) Estramustine(DB01196) CACCCCTCTCCCCAGCTCCTG 0.627000 17 21 0 0 1 0 0 PROKR1 10887 broad.mit.edu 37 2 68882249 68882249 + Silent SNP C C T rs146411193 TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr2:68882249C>T ENST00000303786.3 + 3 1143 c.723C>T c.(721-723)ttC>ttT p.F241F PROKR1_ENST00000394342.2_Silent_p.F241F Q8TCW9 PKR1_HUMAN prokineticin receptor 1 241 integral to membrane|plasma membrane neuropeptide Y receptor activity endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 GCATAGAATTCGTGGGCCCCG 0.547000 7 109 0 0 1 0 0 CRB1 23418 broad.mit.edu 37 1 197390355 197390355 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:197390355G>A ENST00000367400.3 + 6 1532 c.1397G>A c.(1396-1398)gGa>gAa p.G466E CRB1_ENST00000535699.1_Missense_Mutation_p.G397E|CRB1_ENST00000476483.1_3'UTR|CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000367399.2_Missense_Mutation_p.G354E|CRB1_ENST00000543483.1_Missense_Mutation_p.G165E|CRB1_ENST00000538660.1_Missense_Mutation_p.G466E|CRB1_ENST00000544212.1_5'UTR NM_201253.2 NP_957705.1 P82279 CRUM1_HUMAN crumbs homolog 1 (Drosophila) 466 EGF-like 11. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 GGCCAGCATGGATTCAGCTGC 0.502000 81 67 0 0 1 0 0 ADAMTSL2 9719 broad.mit.edu 37 9 136401925 136401925 + Splice_Site SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr9:136401925G>A ENST00000393061.3 + 2 849 c.e2+1 ADAMTSL2_ENST00000354484.4_Splice_Site|ADAMTSL2_ENST00000393060.1_Splice_Site Q86TH1 ATL2_HUMAN ADAMTS-like 2 negative regulation of transforming growth factor beta receptor signaling pathway proteinaceous extracellular matrix metalloendopeptidase activity|protein binding|zinc ion binding kidney(2)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(145;9.31e-08)|Epithelial(140;6.62e-07)|all cancers(34;7.74e-06) CGGGTCCACGGTGAGTGGGGT 0.607000 19 48 0 0 1 0 0 HTR2C 3358 broad.mit.edu 37 X 114141636 114141636 + Silent SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chrX:114141636C>T ENST00000276198.1 + 6 1763 c.1035C>T c.(1033-1035)ctC>ctT p.L345L HTR2C_ENST00000371950.3_3'UTR|HTR2C_ENST00000371951.1_Silent_p.L345L NM_000868.2 NP_000859.1 P28335 5HT2C_HUMAN 5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled 345 cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission cytoplasm|integral to membrane|nucleus|plasma membrane 1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 50 Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246) ACCAAAAGCTCATGGAAAAGC 0.383000 85 139 0 0 1 0 0 TNMD 64102 broad.mit.edu 37 X 99848959 99848959 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chrX:99848959C>T ENST00000373031.4 + 3 465 c.248C>T c.(247-249)cCt>cTt p.P83L TNMD_ENST00000485971.1_3'UTR NM_022144.2 NP_071427.2 Q9H2S6 TNMD_HUMAN tenomodulin 83 integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(7)|skin(1) 16 GAAATTGATCCTGTGACCAGA 0.408000 12 85 0 0 1 0 0 PAX3 5077 broad.mit.edu 37 2 223085957 223085957 + Silent SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr2:223085957G>A ENST00000350526.4 - 6 1078 c.942C>T c.(940-942)ccC>ccT p.P314P PAX3_ENST00000336840.6_Silent_p.P314P|PAX3_ENST00000344493.4_Silent_p.P314P|PAX3_ENST00000464706.1_5'UTR|PAX3_ENST00000392070.2_Silent_p.P314P|PAX3_ENST00000392069.2_Silent_p.P314P|PAX3_ENST00000409551.3_Silent_p.P313P NM_181457.3 NP_852122.1 P23760 PAX3_HUMAN paired box 3 314 apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749) NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 38 Renal(207;0.0183) Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GAATAGATGTGGGCTGGTAAG 0.498000 T """FOXO1A, NCOA1""" alveolar rhabdomyosarcoma Waardenburg syndrome; craniofacial-deafness-hand syndrome 108 227 0 0 1 0 0 FAM194A 131831 broad.mit.edu 37 3 150398676 150398676 + Silent SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr3:150398676G>A ENST00000295910.6 - 8 976 c.924C>T c.(922-924)atC>atT p.I308I FAM194A_ENST00000491361.1_Silent_p.I162I NM_152394.3 NP_689607.2 Q7L0X2 F194A_HUMAN family with sequence similarity 194, member A 308 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 GCTCCTCATAGATATAGTCAA 0.428000 25 50 0 0 1 0 0 CHRM3 1131 broad.mit.edu 37 1 240071669 240071669 + Silent SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:240071669G>A ENST00000255380.4 + 5 1697 c.918G>A c.(916-918)agG>agA p.R306R NM_000740.2 NP_000731.1 P20309 ACM3_HUMAN cholinergic receptor, muscarinic 3 306 cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1) 51 Ovarian(103;0.127) all_cancers(173;0.00567)|all_neural(198;0.203) OV - Ovarian serous cystadenocarcinoma(106;0.00989) Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505) CCAACAGGAGGAAGTATGGCC 0.532000 28 39 0 0 1 0 0 RGS9 8787 broad.mit.edu 37 17 63223509 63223509 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr17:63223509C>T ENST00000449996.3 + 19 2072 c.2000C>T c.(1999-2001)cCc>cTc p.P667L RGS9_ENST00000262406.9_Missense_Mutation_p.P670L NM_001081955.2 NP_001075424.1 O75916 RGS9_HUMAN regulator of G-protein signaling 9 670 intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3) 41 GTCATCTGCCCCTGGGAGAGC 0.607000 9 18 0 0 1 0 0 SDK2 54549 broad.mit.edu 37 17 71410883 71410883 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr17:71410883G>A ENST00000392650.3 - 18 2384 c.2384C>T c.(2383-2385)cCg>cTg p.P795L SDK2_ENST00000388726.3_Missense_Mutation_p.P795L NM_001144952.1 NP_001138424.1 Q58EX2 SDK2_HUMAN sidekick cell adhesion molecule 2 795 Fibronectin type-III 3. cell adhesion integral to membrane breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 86 CACATTGCCCGGAGGGACCGT 0.612000 6 56 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9047822 9047822 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr19:9047822G>A ENST00000397910.4 - 5 34012 c.33809C>T c.(33808-33810)cCt>cTt p.P11270L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 11272 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 ACTCTCTGCAGGATGGGTGAC 0.488000 3 27 0 0 1 0 0 TNIP2 79155 broad.mit.edu 37 4 2744117 2744117 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr4:2744117G>A ENST00000510267.1 - 6 1263 c.836C>T c.(835-837)cCc>cTc p.P279L TNIP2_ENST00000503235.1_Missense_Mutation_p.P303L|TNIP2_ENST00000505186.1_5'UTR|TNIP2_ENST00000315423.7_Missense_Mutation_p.P386L NM_001161527.1 NP_001154999.1 Q8NFZ5 TNIP2_HUMAN TNFAIP3 interacting protein 2 386 cytosol protein binding breast(2)|central_nervous_system(1)|large_intestine(4)|lung(6)|prostate(1) 14 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) CTCTGCAGGGGGTTCTGGCTG 0.647000 7 15 0 0 1 0 0 TBC1D8B 54885 broad.mit.edu 37 X 106070472 106070472 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chrX:106070472C>T ENST00000357242.5 + 7 1282 c.1108C>T c.(1108-1110)Cgc>Tgc p.R370C TBC1D8B_ENST00000481617.2_Missense_Mutation_p.R370C|TBC1D8B_ENST00000276175.3_Missense_Mutation_p.R370C|TBC1D8B_ENST00000310452.2_Missense_Mutation_p.R370C NM_017752.2 NP_060222.2 Q0IIM8 TBC8B_HUMAN TBC1 domain family, member 8B (with GRAM domain) 370 intracellular calcium ion binding|Rab GTPase activator activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 AACAGCTTTTCGCTTCCATGA 0.388000 33 134 0 0 1 0 0 KIAA1324 57535 broad.mit.edu 37 1 109735360 109735360 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:109735360C>T ENST00000369939.3 + 14 1994 c.1811C>T c.(1810-1812)tCt>tTt p.S604F KIAA1324_ENST00000529753.1_Missense_Mutation_p.S517F|KIAA1324_ENST00000369938.1_3'UTR NM_020775.4 NP_065826.2 Q6UXG2 K1324_HUMAN KIAA1324 604 macroautophagy|positive regulation of vacuole organization|regulation of apoptosis integral to plasma membrane NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 34 all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063) Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249) TCCTGCACCTCTTGTCCTGCT 0.527000 40 271 0 0 1 0 0 DENND5B 160518 broad.mit.edu 37 12 31545314 31545314 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr12:31545314G>A ENST00000389082.5 - 19 3617 c.3353C>T c.(3352-3354)aCc>aTc p.T1118I DENND5B_ENST00000306833.6_Missense_Mutation_p.T1153I|DENND5B_ENST00000536562.1_Missense_Mutation_p.T1153I NM_144973.3 NP_659410.3 Q6ZUT9 DEN5B_HUMAN DENN/MADD domain containing 5B 1118 RUN 2. integral to membrane NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 CAGCAACACGGTGAGGCTTCC 0.468000 7 50 0 0 1 0 0 ZBTB44 29068 broad.mit.edu 37 11 130130909 130130909 + Missense_Mutation SNP A A G TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr11:130130909A>G ENST00000525842.1 - 2 1227 c.860T>C c.(859-861)gTc>gCc p.V287A ZBTB44_ENST00000357899.4_Missense_Mutation_p.V287A|ZBTB44_ENST00000530205.1_Missense_Mutation_p.V287A|ZBTB44_ENST00000397753.1_Missense_Mutation_p.V287A NM_014155.4 NP_054874.3 Q8NCP5 ZBT44_HUMAN zinc finger and BTB domain containing 44 287 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2) 15 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;0.0192)|Lung(977;0.235) TTTGACCCGGACATCTTCTTC 0.468000 45 92 0 0 1 0 0 NR3C2 4306 broad.mit.edu 37 4 149356521 149356521 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr4:149356521C>T ENST00000355292.3 - 2 1854 c.1492G>A c.(1492-1494)Gat>Aat p.D498N NR3C2_ENST00000344721.4_Missense_Mutation_p.D498N|NR3C2_ENST00000511528.1_Missense_Mutation_p.D498N|NR3C2_ENST00000512865.1_Missense_Mutation_p.D498N|NR3C2_ENST00000358102.3_Missense_Mutation_p.D498N|NR3C2_ENST00000342437.4_Missense_Mutation_p.D498N P08235 MCR_HUMAN nuclear receptor subfamily 3, group C, member 2 498 Modulating. regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor endoplasmic reticulum membrane|nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 41 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.0614) Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421) CTCCCATCATCTGGTTCTTGT 0.493000 36 86 0 0 1 0 0 SYCP2 10388 broad.mit.edu 37 20 58496393 58496393 + Missense_Mutation SNP A A G TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr20:58496393A>G ENST00000357552.3 - 4 365 c.140T>C c.(139-141)tTc>tCc p.F47S SYCP2_ENST00000371001.2_Missense_Mutation_p.F47S|SYCP2_ENST00000476314.1_5'UTR Q9BX26 SYCP2_HUMAN synaptonemal complex protein 2 47 cell division|meiotic prophase I|synaptonemal complex assembly DNA binding NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;1.19e-09) CACCTTGTGGAAAAACTGTTT 0.303000 9 11 0 0 1 0 0 ZBTB32 27033 broad.mit.edu 37 19 36205636 36205636 + Silent SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr19:36205636G>A ENST00000392197.2 + 3 426 c.108G>A c.(106-108)ggG>ggA p.G36G ZBTB32_ENST00000262630.3_Silent_p.G36G Q9Y2Y4 ZBT32_HUMAN zinc finger and BTB domain containing 32 36 BTB. DNA repair|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleoplasm DNA binding|protein binding|transcription corepressor activity|zinc ion binding large_intestine(5)|lung(1)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 14 all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) TCACCGTAGGGAGCCAGGAGT 0.642000 38 71 0 0 1 0 0 ZNF808 388558 broad.mit.edu 37 19 53058501 53058501 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr19:53058501C>T ENST00000359798.4 + 5 2512 c.2332C>T c.(2332-2334)Ctt>Ttt p.L778F NM_001039886.3 NP_001034975.2 Q8N4W9 ZN808_HUMAN zinc finger protein 808 778 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(8)|kidney(3)|lung(12)|urinary_tract(1) 24 OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213) CTGGTCATCCCTTGTATACCA 0.438000 25 236 0 0 1 0 0 XKR9 389668 broad.mit.edu 37 8 71646267 71646267 + Missense_Mutation SNP A A T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr8:71646267A>T ENST00000408926.3 + 5 1264 c.730A>T c.(730-732)Ata>Tta p.I244L XKR9_ENST00000520030.1_Missense_Mutation_p.I244L|XKR9_ENST00000520273.1_Intron NM_001011720.1 NP_001011720.1 Q5GH70 XKR9_HUMAN XK, Kell blood group complex subunit-related family, member 9 244 integral to membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 19 Breast(64;0.0716) Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166) GTTAGGTATAATATGGGCATT 0.279000 16 65 0 0 1 0 0 IKZF3 22806 broad.mit.edu 37 17 37949143 37949143 + Silent SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr17:37949143C>T ENST00000346872.3 - 4 268 c.207G>A c.(205-207)gaG>gaA p.E69E IKZF3_ENST00000377958.2_Intron|IKZF3_ENST00000535189.1_Silent_p.E35E|IKZF3_ENST00000439016.2_Silent_p.E69E|IKZF3_ENST00000439167.2_Silent_p.E35E|IKZF3_ENST00000346243.3_Silent_p.E69E|IKZF3_ENST00000350532.3_Silent_p.E69E|IKZF3_ENST00000377945.3_Silent_p.E69E|IKZF3_ENST00000377952.2_Intron|IKZF3_ENST00000351680.3_Silent_p.E69E|IKZF3_ENST00000467757.1_Silent_p.E69E|IKZF3_ENST00000394189.2_Intron|IKZF3_ENST00000377944.3_Intron NM_012481.4 NP_036613.2 Q9UKT9 IKZF3_HUMAN IKAROS family zinc finger 3 (Aiolos) 69 B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 42 Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171) TTAAAACATTCTCATCTCTTT 0.348000 24 50 0 0 1 0 0 THRB 7068 broad.mit.edu 37 3 24231643 24231643 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr3:24231643G>A ENST00000396671.2 - 5 553 c.205C>T c.(205-207)Cat>Tat p.H69Y THRB_ENST00000416420.1_Missense_Mutation_p.H69Y|THRB_ENST00000356447.4_Missense_Mutation_p.H69Y NM_001128176.2 NP_001121648.1 P10828 THB_HUMAN thyroid hormone receptor, beta 69 Modulating. regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3) 19 Levothyroxine(DB00451)|Liothyronine(DB00279) TGGTCCAGATGGAATATTGAG 0.473000 25 95 0 0 1 0 0 DKC1 1736 broad.mit.edu 37 X 154003486 154003486 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chrX:154003486G>A ENST00000369550.5 + 13 1486 c.1276G>A c.(1276-1278)Gag>Aag p.E426K DKC1_ENST00000475966.1_3'UTR NM_001142463.1|NM_001363.3 NP_001135935.1|NP_001354.1 O60832 DKC1_HUMAN dyskeratosis congenita 1, dyskerin 426 cell proliferation|pseudouridine synthesis|rRNA processing|telomere maintenance via telomerase Cajal body|nucleolus|telomerase holoenzyme complex protein binding|pseudouridine synthase activity|RNA binding|telomerase activity breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1) 15 all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) TGCCAAAAAAGAGGTGGTTGC 0.468000 Congenital Dyskeratosis 52 89 0 0 1 0 0 MROH2B 133558 broad.mit.edu 37 5 41058176 41058176 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr5:41058176G>A ENST00000399564.4 - 7 1195 c.745C>T c.(745-747)Cat>Tat p.H249Y MROH2B_ENST00000506092.2_5'UTR NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B TGAGTGACATGGAAATCAATC 0.522000 9 49 0 0 1 0 0 CD5L 922 broad.mit.edu 37 1 157805847 157805847 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:157805847C>T ENST00000368174.4 - 3 250 c.154G>A c.(154-156)Ggc>Agc p.G52S CD5L_ENST00000484609.1_5'UTR NM_005894.2 NP_005885.1 O43866 CD5L_HUMAN CD5 molecule-like 52 SRCR 1. apoptosis|cellular defense response extracellular space|membrane scavenger receptor activity p.G52C(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 52 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) ATGTCCCAGCCGTCATCACAC 0.617000 161 144 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 90103462 90103462 + Silent SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr5:90103462C>T ENST00000405460.2 + 73 14976 c.14880C>T c.(14878-14880)ttC>ttT p.F4960F GPR98_ENST00000425867.2_Silent_p.F621F NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 4960 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) AAGGAGTTTTCCTGTGGACGT 0.468000 9 22 0 0 1 0 0 PRSS54 221191 broad.mit.edu 37 16 58314158 58314158 + Silent SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr16:58314158G>A ENST00000219301.4 - 7 1552 c.1158C>T c.(1156-1158)ttC>ttT p.F386F CCDC113_ENST00000443128.2_3'UTR|CCDC113_ENST00000219299.4_3'UTR|PRSS54_ENST00000567164.1_Silent_p.F386F|PRSS54_ENST00000543437.1_Silent_p.F287F NM_001080492.1 NP_001073961.1 Q6PEW0 PRS54_HUMAN protease, serine, 54 386 proteolysis extracellular region serine-type endopeptidase activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 AAACAAGCACGAAGGAAACCA 0.468000 7 57 0 0 1 0 0 C16orf89 146556 broad.mit.edu 37 16 5112559 5112559 + Silent SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr16:5112559G>A ENST00000315997.5 - 2 426 c.225C>T c.(223-225)gtC>gtT p.V75V C16orf89_ENST00000422873.1_Silent_p.V113V|C16orf89_ENST00000474471.3_Silent_p.V75V|C16orf89_ENST00000472572.3_Silent_p.V75V|C16orf89_ENST00000350219.4_Silent_p.V113V|ALG1_ENST00000588623.1_Intron NM_152459.4 NP_689672.4 Q6UX73 CP089_HUMAN chromosome 16 open reading frame 89 75 extracellular region breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(1) 12 ACTTCTCCCGGACACTTTTTA 0.537000 37 67 0 0 1 0 0 MDGA1 266727 broad.mit.edu 37 6 37605941 37605941 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr6:37605941C>T ENST00000505425.1 - 16 2815 c.2816G>A c.(2815-2817)gGg>gAg p.G939E MDGA1_ENST00000434837.2_Intron|MDGA1_ENST00000297153.7_Intron Q8NFP4 MDGA1_HUMAN MAM domain containing glycosylphosphatidylinositol anchor 1 939 brain development|neuron migration|spinal cord association neuron differentiation anchored to plasma membrane central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1) 38 CGCACAGCTCCCTCCAGATTC 0.557000 13 15 0 0 1 0 0 OR11A1 26531 broad.mit.edu 37 6 29394623 29394623 + Missense_Mutation SNP C C A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr6:29394623C>A ENST00000377149.1 - 5 1268 c.796G>T c.(796-798)Gtc>Ttc p.V266F OR5V1_ENST00000377154.1_Intron|OR11A1_ENST00000377147.2_Missense_Mutation_p.V266F|OR11A1_ENST00000377148.1_Missense_Mutation_p.V266F Q9GZK7 O11A1_HUMAN olfactory receptor, family 11, subfamily A, member 1 266 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|large_intestine(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 19 TGGGAATGGACAGCAGAGGGT 0.517000 17 101 1.67942e-08 1.7119e-08 1 1 0 ABCA13 154664 broad.mit.edu 37 7 48375094 48375094 + Nonsense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr7:48375094C>T ENST00000435803.1 + 28 10099 c.10075C>T c.(10075-10077)Cag>Tag p.Q3359* NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 3359 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 CAGCCTTTTCCAGAGAAGTGG 0.453000 22 39 0 0 1 0 0 SPTA1 6708 broad.mit.edu 37 1 158597458 158597458 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:158597458C>T ENST00000368148.3 - 40 5801 c.5621G>A c.(5620-5622)cGa>cAa p.R1874Q SPTA1_ENST00000368147.3_Missense_Mutation_p.R1874Q|SPTA1_ENST00000461624.1_5'UTR NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 1874 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) ATTTTGTACTCGGGTCTCATG 0.428000 83 89 0 0 1 0 0 MAGEC2 51438 broad.mit.edu 37 X 141291004 141291004 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chrX:141291004C>T ENST00000247452.3 - 3 1117 c.770G>A c.(769-771)gGg>gAg p.G257E NM_016249.3 NP_057333.1 Q9UBF1 MAGC2_HUMAN melanoma antigen family C, 2 257 MAGE. cytoplasm|nucleus NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3) 47 Acute lymphoblastic leukemia(192;6.56e-05) AGCATATACCCCTACTGCATT 0.527000 HNSCC(46;0.14) 39 200 0 0 1 0 0 ATP13A4 84239 broad.mit.edu 37 3 193175241 193175241 + Missense_Mutation SNP G G T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr3:193175241G>T ENST00000342695.4 - 15 2010 c.1688C>A c.(1687-1689)tCt>tAt p.S563Y ATP13A4_ENST00000392443.3_Missense_Mutation_p.S544Y NM_032279.2 NP_115655.2 Q4VNC1 AT134_HUMAN ATPase type 13A4 563 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2) 71 all_cancers(143;1.76e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000109) ATCGTCCCCAGAAAAAGCCAT 0.473000 40 71 1.49673e-21 1.54501e-21 1 1 0 MXRA5 25878 broad.mit.edu 37 X 3235414 3235414 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chrX:3235414G>A ENST00000217939.6 - 6 6462 c.6308C>T c.(6307-6309)cCc>cTc p.P2103L NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 2103 Ig-like C2-type 5. 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) CGTCCCGTTGGGGAAAACAAA 0.677000 5 21 0 0 1 0 0 COL2A1 1280 broad.mit.edu 37 12 48372385 48372385 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr12:48372385G>A ENST00000380518.3 - 42 3054 c.2890C>T c.(2890-2892)Ccc>Tcc p.P964S COL2A1_ENST00000337299.6_Missense_Mutation_p.P895S|COL2A1_ENST00000493991.1_5'UTR NM_001844.4|NM_033150.2 NP_001835.3|NP_149162.2 P02458 CO2A1_HUMAN collagen, type II, alpha 1 964 Triple-helical region. axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception collagen type II identical protein binding|platelet-derived growth factor binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3) 64 Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214) Collagenase(DB00048) CTTACAGAGGGACCGTCATCT 0.667000 13 26 0 0 1 0 0 NPAP1 23742 broad.mit.edu 37 15 24922177 24922177 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr15:24922177C>T ENST00000329468.2 + 1 1637 c.1163C>T c.(1162-1164)aCc>aTc p.T388I NM_018958.2 NP_061831.2 nuclear pore associated protein 1 AAAACAGAGACCATGACAAAC 0.527000 28 38 0 0 1 0 0 ATP13A2 23400 broad.mit.edu 37 1 17331219 17331219 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:17331219G>A ENST00000452699.1 - 5 634 c.445C>T c.(445-447)Cac>Tac p.H149Y RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000341676.5_Missense_Mutation_p.H149Y|ATP13A2_ENST00000326735.8_Missense_Mutation_p.H149Y NM_001141973.1|NM_022089.2 NP_001135445.1|NP_071372.1 Q9NQ11 AT132_HUMAN ATPase type 13A2 149 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182) TCGCTCTTGTGGAGCTGGGCC 0.632000 13 113 0 0 1 0 0 ARR3 407 broad.mit.edu 37 X 69489535 69489535 + Missense_Mutation SNP A A T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chrX:69489535A>T ENST00000374495.3 + 3 130 c.32A>T c.(31-33)aAt>aTt p.N11I ARR3_ENST00000307959.8_Missense_Mutation_p.N11I P36575 ARRC_HUMAN arrestin 3, retinal (X-arrestin) 11 signal transduction|visual perception cytoplasm|soluble fraction endometrium(3)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1) 16 ACCAGCTCCAATGGGAAGGTG 0.527000 6 17 0 0 1 0 0 JAKMIP3 282973 broad.mit.edu 37 10 133950552 133950552 + Silent SNP C C A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr10:133950552C>A ENST00000298622.4 + 6 1284 c.1146C>A c.(1144-1146)ccC>ccA p.P382P NM_001105521.2 NP_001098991.1 Janus kinase and microtubule interacting protein 3 breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 31 all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175) OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224) TACGGAGACCCAGTTCCTTGA 0.498000 11 27 6.40141e-05 6.45908e-05 1 1 0 CCDC22 28952 broad.mit.edu 37 X 49104003 49104003 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chrX:49104003C>T ENST00000376227.3 + 8 1126 c.956C>T c.(955-957)tCc>tTc p.S319F NM_014008.3 NP_054727.1 O60826 CCD22_HUMAN coiled-coil domain containing 22 319 NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1) 18 CCAGCCACCTCCCGGCGGCCT 0.667000 3 11 0 0 1 0 0 NLRP1 22861 broad.mit.edu 37 17 5461997 5461997 + Silent SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr17:5461997G>A ENST00000345221.3 - 4 2573 c.2019C>T c.(2017-2019)ttC>ttT p.F673F NLRP1_ENST00000572272.1_Silent_p.F673F|NLRP1_ENST00000354411.3_Silent_p.F673F|NLRP1_ENST00000262467.5_Silent_p.F673F|NLRP1_ENST00000577119.1_Silent_p.F673F|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000269280.4_Silent_p.F673F 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 1 673 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) GGCCCAATAGGAAACGTGTGG 0.498000 38 137 0 0 1 0 0 FMN2 56776 broad.mit.edu 37 1 240374458 240374458 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:240374458G>A ENST00000319653.9 + 6 4218 c.3988G>A c.(3988-3990)Gaa>Aaa p.E1330K NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 1330 FH2. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) TGAATTTGAGGAATTATTTTC 0.328000 22 108 0 0 1 0 0 EPB41L2 2037 broad.mit.edu 37 6 131206240 131206240 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr6:131206240C>T ENST00000337057.3 - 12 2010 c.1829G>A c.(1828-1830)gGa>gAa p.G610E EPB41L2_ENST00000530481.1_Missense_Mutation_p.G610E|EPB41L2_ENST00000527411.1_Missense_Mutation_p.G610E|EPB41L2_ENST00000527659.1_Missense_Mutation_p.G610E|EPB41L2_ENST00000525271.1_Missense_Mutation_p.G610E|EPB41L2_ENST00000528282.1_Missense_Mutation_p.G610E|EPB41L2_ENST00000529208.1_Missense_Mutation_p.G610E|EPB41L2_ENST00000445890.2_Missense_Mutation_p.G610E|EPB41L2_ENST00000368128.2_Missense_Mutation_p.G610E|EPB41L2_ENST00000392427.3_Missense_Mutation_p.G610E|EPB41L2_ENST00000525193.1_Missense_Mutation_p.G610E NM_001431.3 NP_001422.1 O43491 E41L2_HUMAN erythrocyte membrane protein band 4.1-like 2 610 Hydrophilic. cortical actin cytoskeleton organization extrinsic to membrane|plasma membrane|spectrin actin binding|structural molecule activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2) 44 Breast(56;0.0639) OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355) CCATACCTTTCCTTCAATGAG 0.408000 OREG0017660 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 52 41 0 0 1 0 0 IQSEC3 440073 broad.mit.edu 37 12 283916 283916 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr12:283916C>T ENST00000538872.1 + 14 3384 c.3266C>T c.(3265-3267)aCc>aTc p.T1089I IQSEC3_ENST00000537151.1_3'UTR|IQSEC3_ENST00000326261.4_Missense_Mutation_p.T1089I|RP11-598F7.6_ENST00000537295.1_lincRNA Q9UPP2 IQEC3_HUMAN IQ motif and Sec7 domain 3 1089 Pro-rich. regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031) OV - Ovarian serous cystadenocarcinoma(31;0.00456) LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179) CCCCCGGGCACCCTGGTGCAG 0.706000 6 16 0 0 1 0 0 GGT3P 2679 broad.mit.edu 37 22 18778612 18778612 + RNA SNP C C T rs1055042 by1000genomes TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr22:18778612C>T ENST00000412448.1 - 0 793 GCGGCCACGGCAGCCCTGGTG 0.637000 4 35 0 0 1 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43826148 43826148 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr12:43826148C>T ENST00000389420.3 - 21 3054 c.3055G>A c.(3055-3057)Gaa>Aaa p.E1019K ADAMTS20_ENST00000395541.2_Missense_Mutation_p.E173K|ADAMTS20_ENST00000553158.1_Missense_Mutation_p.E1019K NM_025003.3 NP_079279.3 P59510 ATS20_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 20 1019 TSP type-1 4. proteinaceous extracellular matrix zinc ion binding breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) CAGGAAAATTCATTGCAATTC 0.403000 10 36 0 0 1 0 0 GPR75 10936 broad.mit.edu 37 2 54081330 54081330 + Silent SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr2:54081330G>A ENST00000394705.2 - 2 834 c.564C>T c.(562-564)ctC>ctT p.L188L ASB3_ENST00000406625.2_Intron|ASB3_ENST00000498475.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron NM_006794.3 NP_006785.1 O95800 GPR75_HUMAN G protein-coupled receptor 75 188 integral to plasma membrane G-protein coupled receptor activity breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 18 Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181) TGGGAAGACAGAGGTGGGACT 0.532000 17 49 0 0 1 0 0 NUTM2G 441457 broad.mit.edu 37 9 99691319 99691319 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr9:99691319G>A ENST00000354649.3 + 1 728 c.13G>A c.(13-15)Gga>Aga p.G5R HIATL2_ENST00000506067.1_Intron|NUTM2G_ENST00000372322.3_Missense_Mutation_p.G5R NM_001045477.2 NP_001038942.1 NUT family member 2G GGCTTCAAATGGAGGTGAGCC 0.537000 16 104 0 0 1 0 0 SELP 6403 broad.mit.edu 37 1 169572424 169572424 + Silent SNP G G A rs145585796 TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:169572424G>A ENST00000263686.6 - 10 1582 c.1545C>T c.(1543-1545)agC>agT p.S515S SELP_ENST00000458599.2_Intron|SELP_ENST00000367786.2_Silent_p.S453S|SELP_ENST00000367793.2_Silent_p.S453S|SELP_ENST00000367792.2_Intron|SELP_ENST00000367788.2_Silent_p.S453S|SELP_ENST00000367791.2_Silent_p.S391S|SELP_ENST00000367794.2_Silent_p.S453S NM_003005.3 NP_002996.2 P16109 LYAM3_HUMAN selectin P (granule membrane protein 140kDa, antigen CD62) 515 Sushi 6. platelet activation|platelet degranulation|positive regulation of platelet activation external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_hematologic(923;0.208) Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775) CATTCTGAGGGCTTAGCAAAG 0.428000 27 149 0 0 1 0 0 SETDB1 9869 broad.mit.edu 37 1 150902515 150902515 + Silent SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:150902515C>T ENST00000271640.5 + 3 523 c.333C>T c.(331-333)agC>agT p.S111S SETDB1_ENST00000368963.1_Silent_p.S111S|SETDB1_ENST00000368962.2_Silent_p.S111S|SETDB1_ENST00000459773.1_3'UTR|SETDB1_ENST00000368969.4_Silent_p.S111S NM_001145415.1|NM_012432.3 NP_001138887.1|NP_036564.3 Q15047 SETB1_HUMAN SET domain, bifurcated 1 111 regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|Golgi apparatus|nucleus|plasma membrane DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 12 all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211) GGGACAGTAGCTCTGAGGACG 0.438000 67 80 0 0 1 0 0 PACS1 55690 broad.mit.edu 37 11 66001661 66001661 + Silent SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr11:66001661C>T ENST00000320580.4 + 17 2085 c.2052C>T c.(2050-2052)ttC>ttT p.F684F PACS1_ENST00000529757.1_Silent_p.F220F NM_018026.3 NP_060496.2 Q6VY07 PACS1_HUMAN phosphofurin acidic cluster sorting protein 1 684 interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction cytosol protein binding RBM14/PACS1(2) breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1) 37 GTAGTTCCTTCCTGGATTCTG 0.537000 45 116 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 2806857 2806857 + Nonsense_Mutation SNP C C A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr8:2806857C>A ENST00000520002.1 - 69 10924 c.10369G>T c.(10369-10371)Gga>Tga p.G3457* CSMD1_ENST00000602723.1_Nonsense_Mutation_p.G3280*|CSMD1_ENST00000537824.1_Nonsense_Mutation_p.G3456*|CSMD1_ENST00000602557.1_Nonsense_Mutation_p.G3457*|CSMD1_ENST00000542608.1_Nonsense_Mutation_p.G3279*|CSMD1_ENST00000400186.3_Nonsense_Mutation_p.G3280* Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 3457 integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) AAGTCTTTTCCATGAATGTCA 0.338000 4 34 0.00024832 0.000249434 1 1 0 OR4K17 390436 broad.mit.edu 37 14 20586066 20586066 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr14:20586066G>A ENST00000315543.4 + 1 501 c.501G>A c.(499-501)atG>atA p.M167I NM_001004715.1 NP_001004715.1 Q8NGC6 OR4KH_HUMAN olfactory receptor, family 4, subfamily K, member 17 139 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3) 21 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.77e-06) GBM - Glioblastoma multiforme(265;0.0144) TGACCATCATGAACAAGAAGG 0.458000 11 52 0 0 1 0 0 NEK5 341676 broad.mit.edu 37 13 52676362 52676362 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr13:52676362G>A ENST00000355568.4 - 10 815 c.676C>T c.(676-678)Ccg>Tcg p.P226S NM_199289.1 NP_954983.1 Q6P3R8 NEK5_HUMAN NIMA-related kinase 5 226 Protein kinase. ATP binding|metal ion binding|protein serine/threonine kinase activity breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 39 Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;3.7e-08) GAAAACCCCGGAGATATTGGG 0.423000 51 130 0 0 1 0 0 PPP1R3A 5506 broad.mit.edu 37 7 113558462 113558462 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr7:113558462G>A ENST00000284601.3 - 1 658 c.590C>T c.(589-591)cCt>cTt p.P197L NM_002711.3 NP_002702.2 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory subunit 3A 197 CBM21. glycogen metabolic process integral to membrane NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2) 121 TTTTTGATAAGGAGGAACCAA 0.333000 16 66 0 0 1 0 0 MMAA 166785 broad.mit.edu 37 4 146575266 146575266 + Missense_Mutation SNP C C A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr4:146575266C>A ENST00000281317.5 + 6 2150 c.940C>A c.(940-942)Cgc>Agc p.R314S MMAA_ENST00000541599.1_Missense_Mutation_p.R33S NM_172250.2 NP_758454.1 Q8IVH4 MMAA_HUMAN methylmalonic aciduria (cobalamin deficiency) cblA type 314 mitochondrion GTP binding|nucleoside-triphosphatase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1) 17 all_hematologic(180;0.151) Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) GAAATTACTCCGCAAACGTTC 0.428000 45 109 2.00842e-17 2.06844e-17 1 1 0 SYTL4 94121 broad.mit.edu 37 X 99956599 99956599 + Missense_Mutation SNP G G A rs151147513 TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chrX:99956599G>A ENST00000372981.1 - 3 367 c.181C>T c.(181-183)Cgg>Tgg p.R61W SYTL4_ENST00000372989.1_Missense_Mutation_p.R61W|SYTL4_ENST00000455616.1_Missense_Mutation_p.R61W|SYTL4_ENST00000454200.2_Missense_Mutation_p.R61W|SYTL4_ENST00000263033.5_Missense_Mutation_p.R61W|SYTL4_ENST00000276141.6_Missense_Mutation_p.R61W Q96C24 SYTL4_HUMAN synaptotagmin-like 4 61 RabBD. exocytosis|intracellular protein transport extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2) 27 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) GCACAGGTCCGATCACTGTAG 0.537000 46 134 0 0 1 0 0 SLC1A5 6510 broad.mit.edu 37 19 47285696 47285696 + Silent SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr19:47285696G>A ENST00000542575.2 - 4 1396 c.768C>T c.(766-768)atC>atT p.I256I SLC1A5_ENST00000594991.1_Silent_p.I80I|SLC1A5_ENST00000412532.2_Silent_p.I28I|SLC1A5_ENST00000434726.2_Silent_p.I54I NM_005628.2 NP_005619.1 Q15758 AAAT_HUMAN solute carrier family 1 (neutral amino acid transporter), member 5 256 cellular nitrogen compound metabolic process integral to plasma membrane|melanosome|membrane fraction neutral amino acid transmembrane transporter activity|protein binding|receptor activity|sodium:dicarboxylate symporter activity p.I256I(1) cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(2)|stomach(1) 13 all_epithelial(76;0.00314)|Ovarian(192;0.0798)|all_neural(266;0.107) OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000882)|Epithelial(262;0.0211)|GBM - Glioblastoma multiforme(486;0.0341) L-Asparagine(DB00174)|L-Glutamine(DB00130) TGAAGAAGCGGATAAGCAGCT 0.602000 33 74 0 0 1 0 0 MBOAT1 154141 broad.mit.edu 37 6 20109840 20109840 + Silent SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr6:20109840G>A ENST00000541730.1 - 11 1498 c.903C>T c.(901-903)atC>atT p.I301I MBOAT1_ENST00000324607.7_Silent_p.I450I Q6ZNC8 MBOA1_HUMAN membrane bound O-acyltransferase domain containing 1 450 phospholipid biosynthetic process integral to membrane acyltransferase activity breast(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(5) 20 all_cancers(95;0.244)|Breast(50;0.0379)|Ovarian(93;0.0473)|all_epithelial(95;0.109) OV - Ovarian serous cystadenocarcinoma(7;0.00392)|all cancers(50;0.0117)|Epithelial(50;0.0454) TGTATAAGCTGATGGTCGGTT 0.468000 10 116 0 0 1 0 0 BTN3A1 11119 broad.mit.edu 37 6 26405846 26405846 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr6:26405846C>T ENST00000289361.6 + 2 423 c.55C>T c.(55-57)Ctt>Ttt p.L19F BTN3A1_ENST00000425234.2_Missense_Mutation_p.L19F|BTN3A1_ENST00000414912.2_Missense_Mutation_p.L19F|BTN3A1_ENST00000476549.2_Missense_Mutation_p.L19F NM_001145008.1|NM_001145009.1|NM_007048.5 NP_001138480.1|NP_001138481.1|NP_008979.3 O00481 BT3A1_HUMAN butyrophilin, subfamily 3, member A1 19 lipid metabolic process integral to membrane breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 28 TGTCTGCCTCCTTTTGCTTCA 0.468000 23 94 0 0 1 0 0 IQCA1 79781 broad.mit.edu 37 2 237272523 237272523 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr2:237272523G>A ENST00000409907.3 - 15 2043 c.1769C>T c.(1768-1770)aCc>aTc p.T590I IQCA1_ENST00000431676.2_Missense_Mutation_p.T549I|IQCA1_ENST00000309507.5_Missense_Mutation_p.T587I Q86XH1 IQCA1_HUMAN IQ motif containing with AAA domain 1 590 ATP binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1) 26 TCCCGTTTCGGTGCAGATGGC 0.517000 31 70 0 0 1 0 0 LRRC49 54839 broad.mit.edu 37 15 71276536 71276536 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr15:71276536C>T ENST00000260382.5 + 11 1369 c.1109C>T c.(1108-1110)tCt>tTt p.S370F LRRC49_ENST00000443425.2_Missense_Mutation_p.S326F|LRRC49_ENST00000560158.2_Missense_Mutation_p.S58F|LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000560369.1_Missense_Mutation_p.S375F|LRRC49_ENST00000560691.1_Missense_Mutation_p.S76F|LRRC49_ENST00000544974.2_Missense_Mutation_p.S360F NM_001199017.1|NM_017691.3 NP_001185946.1|NP_060161.2 Q8IUZ0 LRC49_HUMAN leucine rich repeat containing 49 370 cytoplasm|microtubule breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3) 34 GATTCTGACTCTCCTCAGGAC 0.413000 31 60 0 0 1 0 0 MYO5B 4645 broad.mit.edu 37 18 47432962 47432962 + Silent SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr18:47432962G>A ENST00000285039.7 - 19 2540 c.2241C>T c.(2239-2241)ttC>ttT p.F747F NM_001080467.2 NP_001073936.1 Q9ULV0 MYO5B_HUMAN myosin VB 747 Myosin head-like. protein transport myosin complex actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4) 87 READ - Rectum adenocarcinoma(32;0.103) CTGCTCGAAAGAAGATCTTGG 0.557000 10 38 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 27 47 0 0 1 0 0 FGD6 55785 broad.mit.edu 37 12 95566471 95566471 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr12:95566471G>A ENST00000343958.4 - 3 2714 c.2491C>T c.(2491-2493)Ccc>Tcc p.P831S FGD6_ENST00000549499.1_Missense_Mutation_p.P831S|FGD6_ENST00000546711.1_Missense_Mutation_p.P831S NM_018351.3 NP_060821.3 Q6ZV73 FGD6_HUMAN FYVE, RhoGEF and PH domain containing 6 831 actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 TCATCAGAGGGAAGGTCACCA 0.438000 23 78 0 0 1 0 0 IGFN1 91156 broad.mit.edu 37 1 201186493 201186493 + Missense_Mutation SNP G G A rs149553166 byFrequency TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:201186493G>A ENST00000335211.4 + 17 9804 c.9674G>A c.(9673-9675)cGg>cAg p.R3225Q IGFN1_ENST00000295591.8_Missense_Mutation_p.R385Q NM_001164586.1 NP_001158058.1 immunoglobulin-like and fibronectin type III domain containing 1 autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 ACAGCACCTCGGGGCCCCGGC 0.652000 39 128 0 0 1 0 0 DRD1 1812 broad.mit.edu 37 5 174869868 174869868 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr5:174869868G>A ENST00000393752.2 - 2 1227 c.235C>T c.(235-237)Ccc>Tcc p.P79S NM_000794.3 NP_000785.1 P21728 DRD1_HUMAN dopamine receptor D1 79 activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning endoplasmic reticulum membrane|membrane fraction protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 23 all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104) Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624) GCCTTCCAGGGCATGACCAGG 0.552000 17 50 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179604946 179604946 + Silent SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr2:179604946C>T ENST00000589042.1 - 48 13238 c.13014G>A c.(13012-13014)caG>caA p.Q4338Q TTN_ENST00000342175.6_Silent_p.Q4167Q|TTN_ENST00000591111.1_Silent_p.Q4021Q|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Silent_p.Q4100Q|TTN_ENST00000460472.2_Silent_p.Q3975Q|TTN_ENST00000342992.6_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 4021 Ig-like 23. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TGAGCAGTACCTGCTTTTCTT 0.458000 22 79 0 0 1 0 0 HMGB3 3149 broad.mit.edu 37 X 150155604 150155604 + Silent SNP T T C TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chrX:150155604T>C ENST00000325307.7 + 4 390 c.294T>C c.(292-294)tcT>tcC p.S98S HMGB3_ENST00000448905.2_Silent_p.S98S NM_005342.2 NP_005333.2 O15347 HMGB3_HUMAN high mobility group box 3 98 DNA recombination|multicellular organismal development chromosome|nucleus DNA bending activity|double-stranded DNA binding endometrium(3)|large_intestine(2)|lung(2)|skin(1) 8 Acute lymphoblastic leukemia(192;6.56e-05) TTCCAAGGTCTGGATTCTTCC 0.428000 12 75 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13811819 13811819 + Silent SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr5:13811819C>T ENST00000265104.4 - 44 7448 c.7344G>A c.(7342-7344)gaG>gaA p.E2448E NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 2448 microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) CCTCCAGCACCTCCATCTTGT 0.433000 Kartagener syndrome 36 76 0 0 1 0 0 TMC5 79838 broad.mit.edu 37 16 19455411 19455411 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr16:19455411G>A ENST00000396229.2 + 4 1546 c.797G>A c.(796-798)aGc>aAc p.S266N TMC5_ENST00000542583.2_Missense_Mutation_p.S266N|TMC5_ENST00000381414.4_Missense_Mutation_p.S266N|TMC5_ENST00000541464.1_Missense_Mutation_p.S266N NM_001105248.1 NP_001098718.1 Q6UXY8 TMC5_HUMAN transmembrane channel-like 5 266 integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 31 AGGGTGCTCAGCAGAACATCT 0.453000 23 70 0 0 1 0 0 GAS7 8522 broad.mit.edu 37 17 9843464 9843464 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr17:9843464G>A ENST00000396115.1 - 8 915 c.605C>T c.(604-606)tCc>tTc p.S202F GAS7_ENST00000579158.1_Missense_Mutation_p.S214F|GAS7_ENST00000432992.2_Missense_Mutation_p.S262F|GAS7_ENST00000323816.4_Missense_Mutation_p.S198F|GAS7_ENST00000583882.1_Intron|GAS7_ENST00000585266.1_Missense_Mutation_p.S198F|GAS7_ENST00000437099.2_Missense_Mutation_p.S198F|GAS7_ENST00000542249.1_Missense_Mutation_p.S207F|GAS7_ENST00000540214.1_Intron|GAS7_ENST00000580865.1_Missense_Mutation_p.S122F NM_201432.1 NP_958836.1 O60861 GAS7_HUMAN growth arrest-specific 7 262 FCH. cell cycle arrest cytoplasm sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 39 TGAAGCCAAGGAGTTCTGAGA 0.502000 T MLL AML* 73 141 0 0 1 0 0 CACNA1G 8913 broad.mit.edu 37 17 48678173 48678173 + Silent SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr17:48678173C>T ENST00000352832.5 + 17 4080 c.3708C>T c.(3706-3708)ttC>ttT p.F1236F CACNA1G_ENST00000507609.1_Silent_p.F1259F|CACNA1G_ENST00000512389.1_Silent_p.F1259F|CACNA1G_ENST00000358244.5_Silent_p.F1236F|CACNA1G_ENST00000510115.1_Silent_p.F1236F|CACNA1G_ENST00000507336.1_Silent_p.F1259F|CACNA1G_ENST00000505165.1_Silent_p.F1259F|CACNA1G_ENST00000515765.1_Silent_p.F1259F|CACNA1G_ENST00000510366.1_Silent_p.F1259F|CACNA1G_ENST00000514079.1_Silent_p.F1259F|CACNA1G_ENST00000503485.1_Silent_p.F1259F|CACNA1G_ENST00000354983.4_Silent_p.F1236F|CACNA1G_ENST00000514717.1_Silent_p.F1236F|CACNA1G_ENST00000442258.2_Silent_p.F1236F|CACNA1G_ENST00000513689.2_Silent_p.F1259F|CACNA1G_ENST00000513964.1_Silent_p.F1259F|CACNA1G_ENST00000507510.2_Silent_p.F1259F|CACNA1G_ENST00000515411.1_Silent_p.F1259F|CACNA1G_ENST00000515165.1_Silent_p.F1259F|CACNA1G_ENST00000359106.5_Silent_p.F1259F|CACNA1G_ENST00000507896.1_Silent_p.F1259F|CACNA1G_ENST00000416767.4_Silent_p.F1259F|CACNA1G_ENST00000360761.4_Silent_p.F1236F|CACNA1G_ENST00000429973.2_Silent_p.F1259F|CACNA1G_ENST00000502264.1_Silent_p.F1236F|CACNA1G_ENST00000514181.1_Silent_p.F1259F NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2 NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1 O43497 CAC1G_HUMAN calcium channel, voltage-dependent, T type, alpha 1G subunit 1259 axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23) 47 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) CCTACATCTTCCCTCCTCAGT 0.592000 28 36 0 0 1 0 0 VCAM1 7412 broad.mit.edu 37 1 101196829 101196829 + Missense_Mutation SNP T T C TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:101196829T>C ENST00000294728.2 + 6 1381 c.1280T>C c.(1279-1281)gTt>gCt p.V427A VCAM1_ENST00000370119.4_Missense_Mutation_p.V365A|VCAM1_ENST00000347652.2_Missense_Mutation_p.V335A|VCAM1_ENST00000370115.1_Intron NM_001078.3 NP_001069.1 P19320 VCAM1_HUMAN vascular cell adhesion molecule 1 427 Ig-like C2-type 5. heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome cell adhesion molecule binding|integrin binding central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011) Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196) Carvedilol(DB01136) AGCTGCAAGGTTCCTAGCGTG 0.463000 11 63 0 0 1 0 0 MATN4 8785 broad.mit.edu 37 20 43932896 43932896 + Silent SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr20:43932896G>A ENST00000537548.1 - 4 859 c.615C>T c.(613-615)ttC>ttT p.F205F MATN4_ENST00000342716.4_Silent_p.F205F|MATN4_ENST00000372754.1_Silent_p.F205F|MATN4_ENST00000372751.4_Intron|MATN4_ENST00000372756.1_Silent_p.F205F|MATN4_ENST00000360607.5_Silent_p.F205F|MATN4_ENST00000353917.5_Silent_p.F205F|MATN4_ENST00000372753.1_Intron O95460 MATN4_HUMAN matrilin 4 205 VWFA 1. extracellular region protein binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 Myeloproliferative disorder(115;0.0122) ACTGCAGGCCGAACTCCTGGA 0.617000 30 61 0 0 1 0 0 ST6GAL2 84620 broad.mit.edu 37 2 107446526 107446526 + Silent SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr2:107446526G>A ENST00000409382.3 - 5 1924 c.1314C>T c.(1312-1314)ttC>ttT p.F438F ST6GAL2_ENST00000409087.3_Silent_p.F438F|ST6GAL2_ENST00000361686.4_Silent_p.F438F NM_001142351.1 NP_001135823.1 Q96JF0 SIAT2_HUMAN ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 438 growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 65 ACCTACCAATGAAACCAGAAG 0.348000 35 100 0 0 1 0 0 KIAA0100 9703 broad.mit.edu 37 17 26958619 26958619 + Silent SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr17:26958619G>A ENST00000528896.2 - 23 4251 c.4177C>T c.(4177-4179)Ctg>Ttg p.L1393L KIAA0100_ENST00000544884.1_Silent_p.L1250L|KIAA0100_ENST00000389003.3_Silent_p.L1250L NM_014680.3 NP_055495.2 Q14667 K0100_HUMAN KIAA0100 1393 extracellular region breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3) 68 Lung NSC(42;0.00431) GAGGCCATCAGGTGAACGGTC 0.527000 18 35 0 0 1 0 0 PC 5091 broad.mit.edu 37 11 66620283 66620283 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr11:66620283G>A ENST00000393960.1 - 14 1819 c.1538C>T c.(1537-1539)aCc>aTc p.T513I PC_ENST00000393958.2_Missense_Mutation_p.T513I|PC_ENST00000393955.2_Missense_Mutation_p.T513I NM_001040716.1 NP_001035806.1 P11498 PYC_HUMAN pyruvate carboxylase 513 gluconeogenesis|lipid biosynthetic process mitochondrial matrix ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Melanoma(852;0.0525) Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227) Biotin(DB00121)|Pyruvic acid(DB00119) AATCGGGGTGGTTGGACCGTT 0.637000 11 41 0 0 1 0 0 DISP2 85455 broad.mit.edu 37 15 40661935 40661935 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr15:40661935C>T ENST00000267889.3 + 8 3709 c.3622C>T c.(3622-3624)Cca>Tca p.P1208S NM_033510.1 NP_277045.1 A7MBM2 DISP2_HUMAN dispatched homolog 2 (Drosophila) 1208 smoothened signaling pathway integral to membrane breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4) 30 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247) TTCCCGGCCCCCACCAGCCCC 0.647000 30 68 0 0 1 0 0 OR5B21 219968 broad.mit.edu 37 11 58275399 58275399 + Silent SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr11:58275399G>A ENST00000360374.2 - 1 179 c.180C>T c.(178-180)ttC>ttT p.F60F NM_001005218.1 NP_001005218.1 A6NL26 OR5BL_HUMAN olfactory receptor, family 5, subfamily B, member 21 60 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) GGTTACTGAGGAAAAAGTACA 0.502000 26 51 0 0 1 0 0 DIEXF 27042 broad.mit.edu 37 1 210016822 210016822 + Missense_Mutation SNP T T C TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:210016822T>C ENST00000491415.2 + 11 1865 c.1808T>C c.(1807-1809)tTg>tCg p.L603S NM_014388.6 NP_055203.4 Q68CQ4 DIEXF_HUMAN digestive organ expansion factor homolog (zebrafish) 603 multicellular organismal development nucleus breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2) 53 AACAAGATTTTGCCACAGTAT 0.413000 5 30 0 0 1 0 0 RP1 6101 broad.mit.edu 37 8 55537824 55537824 + Missense_Mutation SNP A A T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr8:55537824A>T ENST00000220676.1 + 4 1530 c.1382A>T c.(1381-1383)aAa>aTa p.K461I NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 461 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) AGACAAAAGAAATCTGTGATT 0.423000 49 56 0 0 1 0 0 FAT2 2196 broad.mit.edu 37 5 150922683 150922683 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr5:150922683G>A ENST00000261800.5 - 9 8017 c.8005C>T c.(8005-8007)Cct>Tct p.P2669S NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 2669 Cadherin 23. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TTCCAGTGAGGAGGGCCTCCA 0.463000 7 91 0 0 1 0 0 ZNF521 25925 broad.mit.edu 37 18 22669461 22669461 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr18:22669461G>A ENST00000361524.3 - 7 4022 c.3874C>T c.(3874-3876)Cca>Tca p.P1292S ZNF521_ENST00000584787.1_Missense_Mutation_p.P1072S|ZNF521_ENST00000538137.2_Missense_Mutation_p.P1292S NM_015461.2 NP_056276.1 Q96K83 ZN521_HUMAN zinc finger protein 521 1292 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) AACTTCTGTGGACATTGTGTA 0.398000 T PAX5 ALL 26 41 0 0 1 0 0 DACH1 1602 broad.mit.edu 37 13 72063197 72063197 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr13:72063197C>T ENST00000305425.4 - 7 2082 c.1660G>A c.(1660-1662)Ggt>Agt p.G554S DACH1_ENST00000354591.4_Missense_Mutation_p.G352S|DACH1_ENST00000359684.2_Missense_Mutation_p.G606S|DACH1_ENST00000313174.7_Missense_Mutation_p.G406S NM_080759.4 NP_542937.2 Q9UI36 DACH1_HUMAN dachshund homolog 1 (Drosophila) 604 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|nucleotide binding|protein binding NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198) GBM - Glioblastoma multiforme(99;0.00032) GATGGAAAACCTGGAGGCAGT 0.468000 37 136 0 0 1 0 0 PLCB3 5331 broad.mit.edu 37 11 64026056 64026056 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr11:64026056C>T ENST00000540288.1 + 11 1227 c.1124C>T c.(1123-1125)cCc>cTc p.P375L PLCB3_ENST00000279230.6_Missense_Mutation_p.P375L|PLCB3_ENST00000325234.5_Missense_Mutation_p.P308L NM_000932.2 NP_000923.1 Q01970 PLCB3_HUMAN phospholipase C, beta 3 (phosphatidylinositol-specific) 375 PI-PLC X-box. intracellular signal transduction|lipid catabolic process|synaptic transmission cytosol calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1) 33 GAGGAGGAACCCTTCATTACC 0.647000 37 82 0 0 1 0 0 OR8S1 341568 broad.mit.edu 37 12 48920040 48920040 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr12:48920040G>A ENST00000310194.1 + 1 626 c.626G>A c.(625-627)gGa>gAa p.G209E OR8S1_ENST00000551654.1_Intron NM_001005203.2 NP_001005203.2 Q8NH09 OR8S1_HUMAN olfactory receptor, family 8, subfamily S, member 1 209 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4) 22 CATGGGCTGGGAAACTTCCTT 0.522000 23 47 0 0 1 0 0 C7 730 broad.mit.edu 37 5 40976884 40976884 + Nonsense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr5:40976884C>T ENST00000313164.9 + 16 2466 c.2107C>T c.(2107-2109)Cag>Tag p.Q703* C7_ENST00000494960.1_3'UTR NM_000587.2 NP_000578.2 P10643 CO7_HUMAN complement component 7 703 Complement control factor I module 1. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular region|membrane attack complex Ovarian(839;0.0112) GCCTAAATGTCAGCGCTGGGA 0.388000 10 10 0 0 1 0 0 TRAV12-1 28674 broad.mit.edu 37 14 22309797 22309797 + RNA SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr14:22309797G>A ENST00000390433.1 + 0 181 GTACAGACAGGATTGCAGGAA 0.468000 40 36 0 0 1 0 0 GHDC 84514 broad.mit.edu 37 17 40343103 40343103 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr17:40343103G>A ENST00000301671.8 - 5 1456 c.1015C>T c.(1015-1017)Ctt>Ttt p.L339F GHDC_ENST00000436923.2_Missense_Mutation_p.L339F|GHDC_ENST00000593209.1_Missense_Mutation_p.L339F|GHDC_ENST00000414034.3_Missense_Mutation_p.L339F|GHDC_ENST00000587427.1_Missense_Mutation_p.L339F|GHDC_ENST00000428494.2_Missense_Mutation_p.L300F Q8N2G8 GHDC_HUMAN GH3 domain containing 339 endoplasmic reticulum|nuclear envelope central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304) BRCA - Breast invasive adenocarcinoma(366;0.124) TCGGCCAAAAGGAGGGTGGAG 0.657000 15 83 0 0 1 0 0 DENND4A 10260 broad.mit.edu 37 15 66048603 66048603 + Missense_Mutation SNP A A T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr15:66048603A>T ENST00000443035.3 - 3 401 c.186T>A c.(184-186)gaT>gaA p.D62E DENND4A_ENST00000431932.2_Missense_Mutation_p.D62E NM_001144823.1 NP_001138295.1 Q7Z401 MYCPP_HUMAN DENN/MADD domain containing 4A 62 MABP. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 51 TACAGATATAATCCTGTGGGA 0.383000 3 19 0 0 1 0 0 SCN10A 6336 broad.mit.edu 37 3 38755538 38755538 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr3:38755538C>T ENST00000449082.2 - 21 3714 c.3715G>A c.(3715-3717)Gaa>Aaa p.E1239K NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 1239 sensory perception voltage-gated sodium channel complex NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) TCAGAATATTCCAGAATCTTC 0.522000 24 95 0 0 1 0 0 CDH23 64072 broad.mit.edu 37 10 73559030 73559030 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr10:73559030C>T ENST00000224721.6 + 50 7237 c.7232C>T c.(7231-7233)tCc>tTc p.S2411F CDH23_ENST00000475158.1_3'UTR|CDH23_ENST00000398788.3_Missense_Mutation_p.S166F NM_022124.5 NP_071407.4 Q9H251 CAD23_HUMAN cadherin-related 23 2406 Cadherin 23. calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3) 133 GACCAGCCCTCCTACCAGGTG 0.622000 24 19 0 0 1 0 0 DNASE1L3 1776 broad.mit.edu 37 3 58196588 58196588 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr3:58196588G>A ENST00000483681.1 - 3 627 c.46C>T c.(46-48)Cac>Tac p.H16Y DNASE1L3_ENST00000394549.2_Missense_Mutation_p.H16Y|DNASE1L3_ENST00000318316.3_Missense_Mutation_p.H16Y|DNASE1L3_ENST00000486455.1_Missense_Mutation_p.H16Y Q13609 DNSL3_HUMAN deoxyribonuclease I-like 3 16 apoptosis|DNA catabolic process nucleus calcium ion binding|DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters p.H16Y(1) breast(2)|large_intestine(4)|lung(6) 12 BRCA - Breast invasive adenocarcinoma(55;0.00021)|KIRC - Kidney renal clear cell carcinoma(284;0.0445)|Kidney(284;0.0556)|OV - Ovarian serous cystadenocarcinoma(275;0.202) AGGGCGCTGTGGATGGAGAGG 0.567000 43 77 0 0 1 0 0 DCST2 127579 broad.mit.edu 37 1 155005966 155005966 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:155005966C>T ENST00000368424.3 - 1 270 c.212G>A c.(211-213)gGa>gAa p.G71E DCST2_ENST00000295536.5_Missense_Mutation_p.G71E NM_144622.2 NP_653223.2 Q5T1A1 DCST2_HUMAN DC-STAMP domain containing 2 71 integral to membrane breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1) 38 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.00034) GCGAGAGAATCCCATGCCCAG 0.657000 80 62 0 0 1 0 0 TRAFD1 10906 broad.mit.edu 37 12 112572540 112572540 + Splice_Site SNP A A T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr12:112572540A>T ENST00000257604.5 + 3 664 c.e3-1 TRAFD1_ENST00000412615.2_Splice_Site NM_001143906.1 NP_001137378.1 O14545 TRAD1_HUMAN TRAF-type zinc finger domain containing 1 negative regulation of innate immune response intracellular protein binding|zinc ion binding kidney(5)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 17 CTATTTCCGTAGCAAAAAAGA 0.393000 19 57 0 0 1 0 0 SERAC1 84947 broad.mit.edu 37 6 158549154 158549154 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr6:158549154G>A ENST00000367102.2 - 10 1142 c.1001C>T c.(1000-1002)tCt>tTt p.S334F SERAC1_ENST00000367104.3_Missense_Mutation_p.S334F|SERAC1_ENST00000367101.1_Missense_Mutation_p.S334F Q96JX3 SRAC1_HUMAN serine active site containing 1 334 GPI anchor metabolic process|intracellular protein transport integral to membrane|intrinsic to endoplasmic reticulum membrane binding|hydrolase activity, acting on ester bonds endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 15 Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178) OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05) GCGAACTATAGAAGAATGAAG 0.358000 14 54 0 0 1 0 0 NFIX 4784 broad.mit.edu 37 19 13186432 13186432 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr19:13186432C>T ENST00000358552.3 + 5 899 c.899C>T c.(898-900)tCc>tTc p.S300F NFIX_ENST00000360105.4_Missense_Mutation_p.S304F|NFIX_ENST00000585575.1_Missense_Mutation_p.S293F|NFIX_ENST00000397661.2_Missense_Mutation_p.S301F|NFIX_ENST00000587260.1_Missense_Mutation_p.S300F|NFIX_ENST00000592199.1_Missense_Mutation_p.S301F|NFIX_ENST00000587760.1_Missense_Mutation_p.S293F|NFIX_ENST00000588228.1_Missense_Mutation_p.S254F Q14938 NFIX_HUMAN nuclear factor I/X (CCAAT-binding transcription factor) 301 DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1) 11 OV - Ovarian serous cystadenocarcinoma(19;8.2e-22) ACAGGCCGTTCCCCAGCAGCT 0.617000 7 27 0 0 1 0 0 TENM3 55714 broad.mit.edu 37 4 183664465 183664465 + Silent SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr4:183664465C>T ENST00000511685.1 + 19 3645 c.3522C>T c.(3520-3522)gcC>gcT p.A1174A TENM3_ENST00000406950.2_Silent_p.A1174A|TENM3_ENST00000502950.1_3'UTR teneurin transmembrane protein 3 AGTTACTGGCCCCAGTGGCGC 0.527000 19 39 0 0 1 0 0 CCDC180 100499483 broad.mit.edu 37 9 100116928 100116928 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr9:100116928G>A ENST00000375202.2 + 37 4564 c.3212G>A c.(3211-3213)cGg>cAg p.R1071Q CCDC180_ENST00000529487.1_Missense_Mutation_p.R1071Q|CCDC180_ENST00000395220.1_3'UTR|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000357054.1_Missense_Mutation_p.R1042Q coiled-coil domain containing 180 GAAGCTGCCCGGATAGAGTTG 0.483000 30 66 0 0 1 0 0 CCR8 1237 broad.mit.edu 37 3 39374683 39374683 + Silent SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr3:39374683C>T ENST00000326306.4 + 2 999 c.861C>T c.(859-861)atC>atT p.I287I CCR8_ENST00000414803.1_3'UTR|CCR8_ENST00000545843.1_Silent_p.I204I NM_005201.3 NP_005192.1 P51685 CCR8_HUMAN chemokine (C-C motif) receptor 8 287 cell adhesion|chemotaxis|elevation of cytosolic calcium ion concentration|immune response integral to plasma membrane coreceptor activity p.I287I(1) NS(3)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(1)|skin(1) 21 KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635) TCACAGAAATCATTTCCTTTA 0.428000 11 47 0 0 1 0 0 NOS1 4842 broad.mit.edu 37 12 117655959 117655959 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr12:117655959C>T ENST00000317775.6 - 28 4866 c.4181G>A c.(4180-4182)cGa>cAa p.R1394Q NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000338101.4_Missense_Mutation_p.R1428Q NM_000620.4|NM_001204218.1 NP_000611.1|NP_001191147.1 P29475 NOS1_HUMAN nitric oxide synthase 1 (neuronal) 1394 multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) CTCATGGTATCGGTTGTCATC 0.473000 71 199 0 0 1 0 0 MB21D2 151963 broad.mit.edu 37 3 192516850 192516850 + Silent SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr3:192516850G>A ENST00000392452.2 - 2 1121 c.801C>T c.(799-801)gtC>gtT p.V267V NM_178496.3 NP_848591.2 Q8IYB1 M21D2_HUMAN Mab-21 domain containing 2 267 endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1) 31 ACCCACTGATGACCTCTTCCT 0.507000 14 31 0 0 1 0 0 SLC35F4 341880 broad.mit.edu 37 14 58055936 58055936 + Silent SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr14:58055936G>A ENST00000556826.1 - 3 821 c.585C>T c.(583-585)ttC>ttT p.F195F SLC35F4_ENST00000339762.6_Silent_p.F231F|SLC35F4_ENST00000554729.1_Silent_p.F72F NM_001206920.1 NP_001193849.1 solute carrier family 35, member F4 breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 AAACCTACCTGAATTTTTTCA 0.338000 14 30 0 0 1 0 0 DEFA4 1669 broad.mit.edu 37 8 6794410 6794410 + Silent SNP G G A rs61749084 byFrequency TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr8:6794410G>A ENST00000297435.2 - 2 136 c.12C>T c.(10-12)atC>atT p.I4I NM_001925.1 NP_001916.1 P12838 DEF4_HUMAN defensin, alpha 4, corticostatin 4 defense response to bacterium|defense response to fungus|killing of cells of other organism extracellular space p.I4I(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1) 10 COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121) CGAGGAGGGCGATAATCCTCA 0.622000 5 30 0 0 1 0 0 KRTAP10-3 386682 broad.mit.edu 37 21 45978081 45978081 + Missense_Mutation SNP G G T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr21:45978081G>T ENST00000391620.1 - 1 562 c.518C>A c.(517-519)cCc>cAc p.P173H TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron NM_198696.2 NP_941969.2 P60369 KR103_HUMAN keratin associated protein 10-3 173 18 X 5 AA repeats of C-C-X(3). Missing (in Ref. 3; AAI33678). keratin filament kidney(1)|lung(4)|prostate(1)|skin(1) 7 GGAGGGGATGGGCACACAGCA 0.721000 17 124 8.00594e-06 8.12381e-06 1 1 0 RAB40AL 282808 broad.mit.edu 37 X 102193023 102193023 + Silent SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chrX:102193023C>T ENST00000218249.5 + 1 824 c.777C>T c.(775-777)atC>atT p.I259I LL0XNC01-237H1.3_ENST00000413528.1_RNA NM_001031834.1 NP_001027004.1 P0C0E4 RB40L_HUMAN RAB40A, member RAS oncogene family-like 259 protein transport|small GTPase mediated signal transduction mitochondrion|plasma membrane GTP binding endometrium(4)|large_intestine(2)|lung(3)|ovary(3) 12 AAGTGAAGATCGTCTGCCCAC 0.537000 45 117 0 0 1 0 0 NAT8L 339983 broad.mit.edu 37 4 2065774 2065774 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr4:2065774G>A ENST00000423729.2 + 3 829 c.829G>A c.(829-831)Ggc>Agc p.G277S NAT8L_ENST00000331662.3_Missense_Mutation_p.G109S NM_178557.3 NP_848652.2 Q8N9F0 NAT8L_HUMAN N-acetyltransferase 8-like (GCN5-related, putative) 277 N-acetyltransferase. integral to membrane|microsome|mitochondrial membrane|rough endoplasmic reticulum membrane aspartate N-acetyltransferase activity haematopoietic_and_lymphoid_tissue(1)|lung(1) 2 OV - Ovarian serous cystadenocarcinoma(23;0.0315) CGTGCTGCCGGGCATGACCCT 0.697000 7 15 0 0 1 0 0 BSN 8927 broad.mit.edu 37 3 49692070 49692070 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr3:49692070G>A ENST00000296452.4 + 5 5195 c.5081G>A c.(5080-5082)aGg>aAg p.R1694K NM_003458.3 NP_003449.2 Q9UPA5 BSN_HUMAN bassoon presynaptic cytomatrix protein 1694 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 106 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) GTGGAAGCGAGGAAGTATGGT 0.582000 37 86 0 0 1 0 0 UPF1 5976 broad.mit.edu 37 19 18971692 18971692 + Silent SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr19:18971692G>A ENST00000262803.5 + 17 2630 c.2358G>A c.(2356-2358)aaG>aaA p.K786K UPF1_ENST00000599848.1_Silent_p.K797K NM_002911.3 NP_002902.2 Q92900 RENT1_HUMAN UPF1 regulator of nonsense transcripts homolog (yeast) 797 cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination chromatin|cytoplasmic mRNA processing body|exon-exon junction complex ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 40 CAGGCGCCAAGCCGGACCAGA 0.607000 8 11 0 0 1 0 0 MAP2K3 5606 broad.mit.edu 37 17 21201746 21201746 + Missense_Mutation SNP A A G TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr17:21201746A>G ENST00000342679.4 + 2 320 c.71A>G c.(70-72)gAt>gGt p.D24G MAP2K3_ENST00000316920.6_5'UTR|MAP2K3_ENST00000361818.5_5'UTR NM_145109.2 NP_659731.1 P46734 MP2K3_HUMAN mitogen-activated protein kinase kinase 3 24 activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553) AGGAAGAAGGATCTACGGATA 0.572000 46 261 0 0 1 0 0 AKAP9 10142 broad.mit.edu 37 7 91709152 91709152 + Missense_Mutation SNP A A G TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr7:91709152A>G ENST00000359028.2 + 32 7966 c.7741A>G c.(7741-7743)Aaa>Gaa p.K2581E AKAP9_ENST00000356239.3_Missense_Mutation_p.K2569E|AKAP9_ENST00000358100.2_Missense_Mutation_p.K2581E Q99996 AKAP9_HUMAN A kinase (PRKA) anchor protein 9 2581 Glu-rich. G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2) 155 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) GGAATATGCAAAATTCTGTCA 0.343000 T BRAF papillary thyroid 24 44 0 0 1 0 0 LOC100505782 100505782 broad.mit.edu 37 17 39564933 39564933 + RNA SNP C C A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr17:39564933C>A ENST00000432258.1 + 0 347 AC003958.2_ENST00000430006.1_RNA TCAGGGACTCCAGCTGGGCCT 0.582000 19 22 2.39556e-15 2.45586e-15 1 1 0 ZNF35 7584 broad.mit.edu 37 3 44700594 44700594 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr3:44700594G>A ENST00000396056.2 + 4 974 c.739G>A c.(739-741)Gag>Aag p.E247K RP11-944L7.4_ENST00000457331.1_RNA|ZNF35_ENST00000542250.1_Missense_Mutation_p.E87K|ZNF35_ENST00000296092.3_3'UTR NM_003420.3 NP_003411.3 P13682 ZNF35_HUMAN zinc finger protein 35 247 cellular response to retinoic acid|spermatogenesis nucleus|perinuclear region of cytoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding large_intestine(3)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1) 12 Ovarian(412;0.0228) OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595) CCACACTGGAGAGAAACCCTT 0.463000 29 78 0 0 1 0 0 DENND3 22898 broad.mit.edu 37 8 142161840 142161840 + Silent SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr8:142161840C>T ENST00000519811.1 + 7 1048 c.978C>T c.(976-978)ttC>ttT p.F326F DENND3_ENST00000424248.1_Silent_p.F246F|DENND3_ENST00000262585.2_Silent_p.F246F A2RUS2 DEND3_HUMAN DENN/MADD domain containing 3 246 breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1) 55 all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.105) AGCACCCCTTCGTGCCCATCC 0.582000 41 132 0 0 1 0 0 KIAA0947 23379 broad.mit.edu 37 5 5461236 5461236 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr5:5461236G>A ENST00000296564.7 + 13 2011 c.1789G>A c.(1789-1791)Gaa>Aaa p.E597K NM_015325.2 NP_056140.1 Q9Y2F5 K0947_HUMAN KIAA0947 597 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1) 35 AAAGGAAAAAGAAGATACTCA 0.398000 49 93 0 0 1 0 0 MAPT 4137 broad.mit.edu 37 17 44060866 44060866 + Silent SNP C C T rs147885393 byFrequency TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr17:44060866C>T ENST00000344290.5 + 6 1018 c.696C>T c.(694-696)tcC>tcT p.S232S MAPT_ENST00000446361.3_Intron|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000351559.5_Intron|MAPT_ENST00000415613.2_Silent_p.S232S|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000262410.5_Silent_p.S232S|MAPT_ENST00000571987.1_Silent_p.S232S|MAPT_ENST00000574436.1_Intron|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000576518.1_Intron|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000535772.1_Intron NM_001123066.3 NP_001116538.2 P10636 TAU_HUMAN microtubule-associated protein tau 232 cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 38 Melanoma(429;0.216) CCCAAGACTCCCCTCCCTCCA 0.692000 16 39 0 0 1 0 0 ERG 2078 broad.mit.edu 37 21 39755571 39755571 + Silent SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr21:39755571G>A ENST00000442448.1 - 11 1414 c.1143C>T c.(1141-1143)gcC>gcT p.A381A ERG_ENST00000398911.1_Silent_p.A381A|ERG_ENST00000398919.2_Silent_p.A405A|ERG_ENST00000417133.2_Silent_p.A405A|ERG_ENST00000288319.7_Silent_p.A398A|ERG_ENST00000398907.1_Silent_p.A375A|ERG_ENST00000398897.1_Silent_p.A282A|ERG_ENST00000398905.1_Silent_p.A374A|ERG_ENST00000398910.1_Silent_p.A382A|ERG_ENST00000453032.2_Silent_p.A306A NM_004449.4 NP_004440.1 P11308 ERG_HUMAN v-ets avian erythroblastosis virus E26 oncogene homolog 405 cell proliferation|multicellular organismal development|protein phosphorylation cytoplasm|nucleus|ribonucleoprotein complex protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50) lung(2)|ovary(1)|skin(1) 4 Prostate(19;3.6e-06) GGGGCTGGAGGGCCTGGGCGA 0.582000 T """EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1""" """Ewing sarcoma, prostate, AML""" 42 118 0 0 1 0 0 DDX18 8886 broad.mit.edu 37 2 118583901 118583901 + Silent SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr2:118583901C>T ENST00000263239.2 + 11 1706 c.1578C>T c.(1576-1578)gcC>gcT p.A526A NM_006773.3 NP_006764.3 Q9NVP1 DDX18_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 18 526 Helicase C-terminal. ATP binding|ATP-dependent RNA helicase activity|RNA binding breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 GAGGGCATGCCTTGCTCATTT 0.443000 20 30 0 0 1 0 0 ZNF548 147694 broad.mit.edu 37 19 57910085 57910085 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr19:57910085C>T ENST00000366197.5 + 3 680 c.430C>T c.(430-432)Cac>Tac p.H144Y ZNF548_ENST00000336128.7_Missense_Mutation_p.H156Y|AC003002.6_ENST00000600421.1_Intron|AC003002.6_ENST00000596400.1_Intron|AC004076.7_ENST00000597410.1_Intron NM_152909.3 NP_690873.2 Q8NEK5 ZN548_HUMAN zinc finger protein 548 144 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) TGGGAAGAACCACAGAGTTCA 0.488000 18 62 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168100111 168100111 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr2:168100111G>A ENST00000409195.1 + 9 2298 c.2209G>A c.(2209-2211)Gaa>Aaa p.E737K XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.E515K|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.E737K|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 562 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 AAAATGTTTCGAAACTCAACC 0.373000 21 53 0 0 1 0 0 ATP9B 374868 broad.mit.edu 37 18 77105512 77105512 + Nonsense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr18:77105512C>T ENST00000426216.2 + 22 2574 c.2557C>T c.(2557-2559)Cag>Tag p.Q853* ATP9B_ENST00000307671.7_Nonsense_Mutation_p.Q853*|ATP9B_ENST00000543761.1_Nonsense_Mutation_p.Q174* NM_198531.3 NP_940933.3 O43861 ATP9B_HUMAN ATPase, class II, type 9B 853 ATP biosynthetic process integral to membrane aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1) 38 Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171) OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405) CTCACCCACCCAGAAGGCCCG 0.602000 24 84 0 0 1 0 0 KRT20 54474 broad.mit.edu 37 17 39036430 39036430 + Silent SNP G G T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr17:39036430G>T ENST00000167588.3 - 4 755 c.714C>A c.(712-714)atC>atA p.I238I NM_019010.2 NP_061883.1 P35900 K1C20_HUMAN keratin 20 238 Linker 12.|Rod. apoptosis|intermediate filament organization Golgi apparatus|intermediate filament protein binding|structural constituent of cytoskeleton NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1) 14 Breast(137;0.000301)|Ovarian(249;0.15) TTTCATTCATGATGACGCCAA 0.463000 12 129 6.40141e-05 6.45908e-05 1 1 0 MAGEC1 9947 broad.mit.edu 37 X 140995342 140995342 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chrX:140995342G>A ENST00000285879.4 + 4 2438 c.2152G>A c.(2152-2154)Gag>Aag p.E718K MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 718 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) TCCTGAGTGGGAGGACTCCCT 0.557000 HNSCC(15;0.026) 44 190 0 0 1 0 0 BAIAP2 10458 broad.mit.edu 37 17 79077473 79077473 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr17:79077473C>T ENST00000321300.6 + 8 907 c.814C>T c.(814-816)Ccg>Tcg p.P272S BAIAP2_ENST00000428708.2_Missense_Mutation_p.P272S|BAIAP2_ENST00000416299.2_Missense_Mutation_p.P135S|BAIAP2_ENST00000575245.1_Missense_Mutation_p.P305S|BAIAP2_ENST00000321280.7_Missense_Mutation_p.P272S|BAIAP2_ENST00000392411.3_Missense_Mutation_p.P194S|BAIAP2_ENST00000575712.1_Missense_Mutation_p.P272S|BAIAP2_ENST00000435091.3_Missense_Mutation_p.P272S NM_001144888.1|NM_017451.2 NP_001138360.1|NP_059345.1 Q9UQB8 BAIP2_HUMAN BAI1-associated protein 2 272 axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1) 18 all_neural(118;0.101) BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524) CGACCCCATTCCGGGGGCCAA 0.701000 18 42 0 0 1 0 0 TNN 63923 broad.mit.edu 37 1 175086245 175086245 + Silent SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:175086245C>T ENST00000239462.4 + 10 2403 c.2290C>T c.(2290-2292)Ctg>Ttg p.L764L NM_022093.1 NP_071376.1 Q9UQP3 TENN_HUMAN tenascin N 764 Fibronectin type-III 6. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 156 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) TAGCACTGTCCTGACGGGCCT 0.637000 31 104 0 0 1 0 0 POTEF 728378 broad.mit.edu 37 2 130872803 130872803 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr2:130872803C>T ENST00000357462.5 - 2 713 c.620G>A c.(619-621)aGg>aAg p.R207K POTEF_ENST00000409914.2_Missense_Mutation_p.R207K|POTEF_ENST00000361163.4_Missense_Mutation_p.R207K|POTEF_ENST00000360967.5_Missense_Mutation_p.R207K A5A3E0 POTEF_HUMAN POTE ankyrin domain family, member F 207 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 CAGAGCTGTCCTCTTTTTGTT 0.398000 8 76 0 0 1 0 0 MAGI2 9863 broad.mit.edu 37 7 78130913 78130913 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr7:78130913C>T ENST00000354212.4 - 5 1199 c.946G>A c.(946-948)Ggc>Agc p.G316S MAGI2_ENST00000536571.1_Missense_Mutation_p.G148S|MAGI2_ENST00000535697.1_Missense_Mutation_p.G153S|MAGI2_ENST00000522391.1_Missense_Mutation_p.G316S|MAGI2_ENST00000419488.1_Missense_Mutation_p.G316S NM_012301.3 NP_036433.2 Q86UL8 MAGI2_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 2 316 Interaction with DDN.|WW 1. cell junction|synapse|synaptosome phosphatase binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3) 84 all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236) TAGACTTCGCCCTTCTCTGTA 0.433000 32 59 0 0 1 0 0 PHEX 5251 broad.mit.edu 37 X 22231020 22231020 + Splice_Site SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chrX:22231020G>A ENST00000379374.4 + 16 2210 c.e16-1 PHEX_ENST00000535894.1_Splice_Site|PHEX_ENST00000418858.3_Splice_Site|PHEX_ENST00000537599.1_Splice_Site NM_000444.4 NP_000435.3 P78562 PHEX_HUMAN phosphate regulating endopeptidase homolog, X-linked biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development integral to plasma membrane aminopeptidase activity|metalloendopeptidase activity|zinc ion binding breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 42 CCTTCTCATAGGATTTCCAGC 0.398000 29 145 0 0 1 0 0 FRAS1 80144 broad.mit.edu 37 4 79461835 79461835 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr4:79461835G>A ENST00000264895.6 + 74 12036 c.11596G>A c.(11596-11598)Gat>Aat p.D3866N NM_025074.6 NP_079350.5 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 3861 cell communication integral to membrane|plasma membrane metal ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 GATCCTTGATGATTCCCTCAT 0.552000 12 22 0 0 1 0 0 EHD3 30845 broad.mit.edu 37 2 31489165 31489165 + Silent SNP G G A rs148671842 byFrequency TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr2:31489165G>A ENST00000322054.5 + 6 1488 c.1203G>A c.(1201-1203)gaG>gaA p.E401E EHD3_ENST00000541626.1_3'UTR NM_014600.2 NP_055415.1 Q9NZN3 EHD3_HUMAN EH-domain containing 3 401 blood coagulation|endocytic recycling|protein homooligomerization nucleus|plasma membrane|recycling endosome membrane ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3) 33 Acute lymphoblastic leukemia(172;0.155) GCCAGGAGGAGTCACAGCGGC 0.622000 4 59 0 0 1 0 0 NPC1L1 29881 broad.mit.edu 37 7 44575925 44575925 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr7:44575925G>A ENST00000289547.4 - 4 1839 c.1784C>T c.(1783-1785)gCc>gTc p.A595V NPC1L1_ENST00000546276.1_Missense_Mutation_p.A595V|NPC1L1_ENST00000381160.3_Missense_Mutation_p.A595V|NPC1L1_ENST00000423141.1_Missense_Mutation_p.A595V NM_013389.2 NP_037521.2 Q9UHC9 NPCL1_HUMAN NPC1-like 1 595 cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane hedgehog receptor activity|protein binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 57 Ezetimibe(DB00973) CTCTAAGAAGGCCTCCTCCCA 0.612000 21 99 0 0 1 0 0 OR52E8 390079 broad.mit.edu 37 11 5878833 5878833 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr11:5878833C>T ENST00000537935.1 - 1 131 c.100G>A c.(100-102)Gga>Aga p.G34R TRIM5_ENST00000380027.1_Intron NM_001005168.1 NP_001005168.1 Q6IFG1 O52E8_HUMAN olfactory receptor, family 52, subfamily E, member 8 34 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 20 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114) Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AAAGGGACTCCAATCCAAATG 0.458000 51 70 0 0 1 0 0 PIM1 5292 broad.mit.edu 37 6 37139091 37139091 + Missense_Mutation SNP C C G TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr6:37139091C>G ENST00000373509.5 + 4 804 c.431C>G c.(430-432)gCc>gGc p.A144G NM_001243186.1|NM_002648.3 NP_001230115.1|NP_002639.1 P11309 PIM1_HUMAN pim-1 oncogene 235 Protein kinase. Y -> H (in a colorectal adenocarcinoma sample; somatic mutation). cell cycle|cell proliferation|multicellular organismal development|negative regulation of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|protein autophosphorylation cytoplasm|nucleus|plasma membrane ATP binding|manganese ion binding|protein binding|protein serine/threonine kinase activity|transcription factor binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(17)|large_intestine(4)|lung(3)|prostate(2)|skin(2) 30 OV - Ovarian serous cystadenocarcinoma(102;0.241) Adenosine monophosphate(DB00131) GAGGAGCTGGCCCGCAGCTTC 0.617000 T BCL6 NHL 53 97 0 0 1 0 0 RGS7 6000 broad.mit.edu 37 1 241099944 241099944 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:241099944G>A ENST00000366565.1 - 5 670 c.289C>T c.(289-291)Cat>Tat p.H97Y RGS7_ENST00000366562.4_Missense_Mutation_p.H97Y|RGS7_ENST00000366564.1_Missense_Mutation_p.H97Y|RGS7_ENST00000446183.2_Missense_Mutation_p.H13Y|RGS7_ENST00000348120.2_Intron|RGS7_ENST00000331110.7_Missense_Mutation_p.H71Y|RGS7_ENST00000407727.1_Missense_Mutation_p.H97Y|RGS7_ENST00000366563.1_Missense_Mutation_p.H97Y|RGS7_ENST00000401882.1_Intron NM_002924.4 NP_002915.3 P49802 RGS7_HUMAN regulator of G-protein signaling 7 97 DEP. G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|protein binding|signal transducer activity breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(173;0.0131) OV - Ovarian serous cystadenocarcinoma(106;0.027) GTGAGGACATGATCTGAGATT 0.398000 51 78 0 0 1 0 0 CCDC160 347475 broad.mit.edu 37 X 133379570 133379570 + Missense_Mutation SNP A A G TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chrX:133379570A>G ENST00000517294.1 + 3 1123 c.740A>G c.(739-741)aAg>aGg p.K247R CCDC160_ENST00000370809.4_Missense_Mutation_p.K247R A6NGH7 CC160_HUMAN coiled-coil domain containing 160 247 endometrium(1)|kidney(2)|large_intestine(10)|lung(2)|prostate(1)|skin(1) 17 GCTGTTAGGAAGTTAAAGCAT 0.378000 5 15 0 0 1 0 0 SCN2A 6326 broad.mit.edu 37 2 166245961 166245961 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr2:166245961G>A ENST00000375437.2 + 27 5935 c.5645G>A c.(5644-5646)cGa>cAa p.R1882Q SCN2A_ENST00000375427.2_Missense_Mutation_p.R1882Q|SCN2A_ENST00000357398.3_Missense_Mutation_p.R1882Q|SCN2A_ENST00000283256.6_Missense_Mutation_p.R1882Q NM_001040142.1 NP_001035232.1 Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha subunit 1882 myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Lamotrigine(DB00555) ATGGAAGAGCGATTCATGGCA 0.468000 8 62 0 0 1 0 0 ABCA13 154664 broad.mit.edu 37 7 48318349 48318349 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr7:48318349G>A ENST00000435803.1 + 18 7582 c.7558G>A c.(7558-7560)Gac>Aac p.D2520N NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 2520 transport integral to membrane ATP binding|ATPase activity p.D2465Y(2)|p.D2520Y(2) breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 CACATCAATGGACTCCATTGT 0.428000 85 173 0 0 1 0 0 CADM2 253559 broad.mit.edu 37 3 86010709 86010709 + Silent SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr3:86010709C>T ENST00000383699.3 + 8 1509 c.882C>T c.(880-882)ttC>ttT p.F294F CADM2_ENST00000407528.2_Silent_p.F285F|CADM2_ENST00000405615.2_Silent_p.F287F NM_001167675.1|NM_001256504.1|NM_001256505.1 NP_001161147.1|NP_001243433.1|NP_001243434.1 Q8N3J6 CADM2_HUMAN cell adhesion molecule 2 285 Ig-like C2-type 2. adherens junction organization|cell junction assembly integral to membrane|plasma membrane endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4) 38 Lung NSC(201;0.0148) LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157) ACATTCTTTTCCTGAACAAAA 0.433000 17 92 0 0 1 0 0 MPDZ 8777 broad.mit.edu 37 9 13121775 13121775 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr9:13121775G>A ENST00000319217.7 - 38 5441 c.5194C>T c.(5194-5196)Ccg>Tcg p.P1732S MPDZ_ENST00000447879.1_Missense_Mutation_p.P1699S|MPDZ_ENST00000536827.1_Missense_Mutation_p.P1699S|MPDZ_ENST00000541718.1_Missense_Mutation_p.P1732S|MPDZ_ENST00000546205.1_Missense_Mutation_p.P1746S|MPDZ_ENST00000381022.2_Missense_Mutation_p.P1732S|MPDZ_ENST00000381015.4_Missense_Mutation_p.P1732S|MPDZ_ENST00000541093.1_5'UTR|MPDZ_ENST00000538841.1_Missense_Mutation_p.P591S NM_001261406.1 NP_001248335.1 O75970 MPDZ_HUMAN multiple PDZ domain protein 1732 PDZ 11. interspecies interaction between organisms apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction protein C-terminus binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2) 61 GBM - Glioblastoma multiforme(50;2.03e-06) CCTTTTCCCGGCTTCTTCTGC 0.468000 20 25 0 0 1 0 0 TENM3 55714 broad.mit.edu 37 4 183601455 183601455 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr4:183601455G>A ENST00000511685.1 + 9 1715 c.1592G>A c.(1591-1593)gGa>gAa p.G531E TENM3_ENST00000406950.2_Missense_Mutation_p.G531E teneurin transmembrane protein 3 TGCGTTTCTGGAACTTGCCAT 0.423000 5 31 0 0 1 0 0 TMEM2 23670 broad.mit.edu 37 9 74324368 74324368 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr9:74324368C>T ENST00000377044.4 - 17 3331 c.2792G>A c.(2791-2793)gGa>gAa p.G931E TMEM2_ENST00000377066.5_Missense_Mutation_p.G868E NM_001135820.1|NM_013390.2 NP_001129292.1|NP_037522.1 Q9UHN6 TMEM2_HUMAN transmembrane protein 2 931 integral to membrane central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2) 56 all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255) GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16) ACCAGGCTTTCCAAAAAAGAC 0.448000 25 35 0 0 1 0 0 KIAA1210 57481 broad.mit.edu 37 X 118223062 118223062 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chrX:118223062C>T ENST00000402510.2 - 11 2130 c.2131G>A c.(2131-2133)Gat>Aat p.D711N NM_020721.1 NP_065772.1 Q9ULL0 K1210_HUMAN KIAA1210 711 breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 64 TTTTGTAAATCAAAGCTGAAA 0.433000 13 49 0 0 1 0 0 COG2 22796 broad.mit.edu 37 1 230825826 230825826 + Missense_Mutation SNP G G C rs142462148 TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:230825826G>C ENST00000534989.1 + 16 2019 c.1684G>C c.(1684-1686)Gga>Cga p.G562R COG2_ENST00000546013.1_Missense_Mutation_p.G310R|COG2_ENST00000366669.4_Missense_Mutation_p.G621R|COG2_ENST00000366668.3_Missense_Mutation_p.G620R|COG2_ENST00000535166.1_Missense_Mutation_p.G505R Q14746 COG2_HUMAN component of oligomeric golgi complex 2 621 Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation Golgi membrane|Golgi stack|Golgi transport complex protein binding|protein transporter activity NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3) 27 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.178) GCTTCAGAGCGGACACAAGGA 0.453000 31 203 0 0 1 0 0 SOX6 55553 broad.mit.edu 37 11 16010698 16010698 + Missense_Mutation SNP T T G TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr11:16010698T>G ENST00000352083.6 - 14 1888 c.1811A>C c.(1810-1812)gAa>gCa p.E604A SOX6_ENST00000528429.1_Missense_Mutation_p.E604A|SOX6_ENST00000527619.1_Missense_Mutation_p.E580A|SOX6_ENST00000316399.6_Missense_Mutation_p.E584A|SOX6_ENST00000528252.1_Missense_Mutation_p.E577A|SOX6_ENST00000396356.3_Missense_Mutation_p.E584A P35712 SOX6_HUMAN SRY (sex determining region Y)-box 6 604 muscle organ development nucleus sequence-specific DNA binding transcription factor activity NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2) 43 GACTCGTGCTTCAGCCACAGT 0.522000 OREG0020800 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 41 104 0 0 1 0 0 PCDHB12 56124 broad.mit.edu 37 5 140589591 140589591 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr5:140589591G>A ENST00000239450.2 + 1 1301 c.1112G>A c.(1111-1113)cGa>cAa p.R371Q PCDHB12_ENST00000541609.1_Missense_Mutation_p.R34Q NM_018932.3 NP_061755.1 Q9Y5F1 PCDBC_HUMAN 371 Cadherin 4. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding p.R371Q(1) NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TTCAGGATACGAGACAGAGAC 0.433000 19 82 0 0 1 0 0 OR4K13 390433 broad.mit.edu 37 14 20502327 20502327 + Silent SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr14:20502327G>A ENST00000315693.2 - 1 592 c.591C>T c.(589-591)ctC>ctT p.L197L NM_001004714.1 NP_001004714.1 Q8NH42 OR4KD_HUMAN olfactory receptor, family 4, subfamily K, member 13 197 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4) 24 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2.9e-06) GBM - Glioblastoma multiforme(265;0.0064) CAATGACCAGGAGCTGTAGGA 0.483000 16 69 0 0 1 0 0 LILRP2 79166 broad.mit.edu 37 19 55220686 55220686 + RNA SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr19:55220686G>A ENST00000413439.1 + 0 808 AGGACACTCAGGGGTCCCAGC 0.622000 10 27 0 0 1 0 0 CLCN7 1186 broad.mit.edu 37 16 1511669 1511669 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr16:1511669C>T ENST00000382745.4 - 3 825 c.220G>A c.(220-222)Gac>Aac p.D74N CLCN7_ENST00000262318.8_Missense_Mutation_p.D50N|CLCN7_ENST00000448525.1_Missense_Mutation_p.D50N NM_001287.5 NP_001278.1 P51798 CLCN7_HUMAN chloride channel, voltage-sensitive 7 74 integral to membrane|lysosomal membrane antiporter activity|ATP binding|voltage-gated chloride channel activity breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2) 24 Hepatocellular(780;0.0893) TGTGGAGGGTCCATATCCTGT 0.567000 15 20 0 0 1 0 0 GRM3 2913 broad.mit.edu 37 7 86479772 86479772 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr7:86479772C>T ENST00000439827.1 + 4 1582 c.1411C>T c.(1411-1413)Cct>Tct p.P471S GRM3_ENST00000546348.1_Silent_p.I418I|GRM3_ENST00000536043.1_Silent_p.I698I|GRM3_ENST00000361669.2_Silent_p.I826I|GRM3_ENST00000394720.2_Missense_Mutation_p.P469S Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 0 synaptic transmission integral to plasma membrane p.L827V(1)|p.I826I(1) NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5) 109 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) TTCACATCATCCTGTTTCAAC 0.488000 13 63 0 0 1 0 0 RP1L1 94137 broad.mit.edu 37 8 10467416 10467416 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr8:10467416C>T ENST00000382483.3 - 4 4415 c.4192G>A c.(4192-4194)Gga>Aga p.G1398R NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 1398 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) TCTGGAAGTCCTTCCTCTTTG 0.557000 161 429 0 0 1 0 0 FAM49A 81553 broad.mit.edu 37 2 16740800 16740800 + Silent SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr2:16740800C>T ENST00000381323.3 - 10 985 c.765G>A c.(763-765)gtG>gtA p.V255V FAM49A_ENST00000406434.1_Silent_p.V255V|FAM49A_ENST00000355549.2_Silent_p.V255V NM_030797.3 NP_110424.1 Q9H0Q0 FA49A_HUMAN family with sequence similarity 49, member A 255 intracellular breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088) GBM - Glioblastoma multiforme(3;0.00969) CTCCCACCATCACCCTCATGC 0.473000 18 61 0 0 1 0 0 POU4F1 5457 broad.mit.edu 37 13 79175704 79175704 + Missense_Mutation SNP G G C TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr13:79175704G>C ENST00000377208.5 - 2 1317 c.1106C>G c.(1105-1107)tCc>tGc p.S369C RNF219-AS1_ENST00000560209.2_RNA|RNF219-AS1_ENST00000444769.3_RNA|RNF219-AS1_ENST00000430549.2_RNA|RNF219-AS1_ENST00000606124.1_RNA|RNF219-AS1_ENST00000560584.2_RNA|RNF219-AS1_ENST00000607860.1_RNA|RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000606376.1_RNA|RNF219-AS1_ENST00000607205.1_RNA|RNF219-AS1_ENST00000607220.1_RNA NM_006237.3 NP_006228.3 Q01851 PO4F1_HUMAN POU class 4 homeobox 1 369 axonogenesis|regulation of transcription from RNA polymerase II promoter|synapse assembly nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1) 16 Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848) GBM - Glioblastoma multiforme(99;0.129) GGCCTCGAGGGAGCGCTTCTC 0.652000 10 84 0 0 1 0 0 LRRC37A16P 651250 broad.mit.edu 37 17 66131683 66131683 + RNA SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr17:66131683G>A ENST00000590019.1 - 0 298 CAGCCCCTCCGACCTTCTCAC 0.597000 29 90 0 0 1 0 0 SRCAP 10847 broad.mit.edu 37 16 30750003 30750003 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr16:30750003C>T ENST00000262518.4 + 34 9027 c.8642C>T c.(8641-8643)cCc>cTc p.P2881L SRCAP_ENST00000395059.2_Missense_Mutation_p.P2819L|SRCAP_ENST00000344771.4_Missense_Mutation_p.P2723L NM_006662.2 NP_006653.2 Q6ZRS2 SRCAP_HUMAN Snf2-related CREBBP activator protein 2881 Pro-rich. interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 136 Colorectal(24;0.198) GATGAGGCACCCTCATCCACC 0.582000 15 41 0 0 1 0 0 ENPEP 2028 broad.mit.edu 37 4 111409736 111409736 + Silent SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr4:111409736G>A ENST00000265162.5 + 2 1026 c.684G>A c.(682-684)agG>agA p.R228R NM_001977.3 NP_001968.3 Q07075 AMPE_HUMAN glutamyl aminopeptidase (aminopeptidase A) 228 cell migration|cell proliferation|cell-cell signaling|proteolysis integral to plasma membrane aminopeptidase activity|metalloexopeptidase activity|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.0031) L-Glutamic Acid(DB00142) CAGATGCCAGGAAATCTTTTC 0.423000 10 31 0 0 1 0 0 UBA1 7317 broad.mit.edu 37 X 47065744 47065744 + Silent SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chrX:47065744C>T ENST00000335972.6 + 16 2022 c.1839C>T c.(1837-1839)ttC>ttT p.F613F UBA1_ENST00000377351.4_Silent_p.F613F|UBA1_ENST00000490869.1_3'UTR NM_003334.3 NP_003325.2 P22314 UBA1_HUMAN ubiquitin-like modifier activating enzyme 1 613 cell death|protein modification process ATP binding|ligase activity|protein binding|small protein activating enzyme activity breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 TGATCCCCTTCCTGACAGAGT 0.577000 14 23 0 0 1 0 0 DEPDC1B 55789 broad.mit.edu 37 5 59934624 59934624 + Missense_Mutation SNP T T G TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr5:59934624T>G ENST00000265036.5 - 7 918 c.851A>C c.(850-852)gAg>gCg p.E284A DEPDC1B_ENST00000453022.2_Missense_Mutation_p.E284A|DEPDC1B_ENST00000545085.1_Missense_Mutation_p.E257A NM_018369.2 NP_060839.2 Q8WUY9 DEP1B_HUMAN DEP domain containing 1B 284 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(2)|skin(2) 17 Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17) AAGTAGAGGCTCTTTCAAGTG 0.348000 9 53 0 0 1 0 0 NEK2 4751 broad.mit.edu 37 1 211847733 211847733 + Silent SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:211847733C>T ENST00000366999.4 - 2 357 c.219G>A c.(217-219)cgG>cgA p.R73R NEK2_ENST00000366998.3_Silent_p.R73R|NEK2_ENST00000540251.1_Silent_p.R30R NM_002497.3 NP_002488.1 P51955 NEK2_HUMAN NIMA-related kinase 2 73 Protein kinase. cell division|centrosome separation|G2/M transition of mitotic cell cycle|meiosis|protein autophosphorylation|regulation of mitosis centrosome|condensed chromosome kinetochore|cytosol|nucleolus ATP binding|metal ion binding|protein binding|protein phosphatase binding|protein serine/threonine kinase activity breast(2)|stomach(1) 3 OV - Ovarian serous cystadenocarcinoma(81;0.00203)|all cancers(67;0.0339)|Epithelial(68;0.0546) GGTCAATAATCCGATCATAGT 0.408000 23 33 0 0 1 0 0 OR51A2 401667 broad.mit.edu 37 11 4976164 4976164 + Silent SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr11:4976164G>A ENST00000380371.1 - 1 779 c.780C>T c.(778-780)gcC>gcT p.A260A MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron NM_001004748.1 NP_001004748.1 Q8NGJ7 O51A2_HUMAN olfactory receptor, family 51, subfamily A, member 2 260 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) GGTGGACAACGGCCAGGTTGA 0.468000 10 78 0 0 1 0 0 KIF3B 9371 broad.mit.edu 37 20 30897927 30897927 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr20:30897927G>A ENST00000375712.3 + 2 514 c.347G>A c.(346-348)aGa>aAa p.R116K NM_004798.3 NP_004789.1 O15066 KIF3B_HUMAN kinesin family member 3B 116 Kinesin-motor. anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 36 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) CCTGAAAAAAGAGGAGTCATT 0.448000 27 45 0 0 1 0 0 ZNF804A 91752 broad.mit.edu 37 2 185801948 185801948 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr2:185801948G>A ENST00000302277.6 + 4 2419 c.1825G>A c.(1825-1827)Gag>Aag p.E609K NM_194250.1 NP_919226.1 Q7Z570 Z804A_HUMAN zinc finger protein 804A 609 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 TCATCATATGGAGAAAACCAA 0.328000 23 80 0 0 1 0 0 PCSK5 5125 broad.mit.edu 37 9 78790138 78790138 + Missense_Mutation SNP A A G rs11999771 TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr9:78790138A>G ENST00000376767.3 + 14 2505 c.1993A>G c.(1993-1995)Aaa>Gaa p.K665E PCSK5_ENST00000545128.1_Intron|PCSK5_ENST00000376752.4_Intron Q92824 PCSK5_HUMAN proprotein convertase subtilisin/kexin type 5 0 CRM (Cys-rich motif). anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release extracellular space|Golgi lumen|stored secretory granule peptide binding|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 gaatggaatgaaatggaatgg 0.423000 5 16 0 0 1 0 0 ADH1A 124 broad.mit.edu 37 4 100200661 100200661 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr4:100200661G>A ENST00000209668.2 - 8 1138 c.1025C>T c.(1024-1026)tCa>tTa p.S342L RP11-696N14.1_ENST00000506160.1_RNA|RP11-696N14.1_ENST00000500358.2_RNA NM_000667.3 NP_000658.1 P07327 ADH1A_HUMAN alcohol dehydrogenase 1A (class I), alpha polypeptide 342 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) TGCATCCAATGAAAACTTCTT 0.333000 17 100 0 0 1 0 0 NEO1 4756 broad.mit.edu 37 15 73470671 73470671 + Missense_Mutation SNP G G C TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr15:73470671G>C ENST00000339362.5 + 8 1641 c.1194G>C c.(1192-1194)ttG>ttC p.L398F NEO1_ENST00000560262.1_Missense_Mutation_p.L398F|NEO1_ENST00000261908.6_Missense_Mutation_p.L398F|NEO1_ENST00000558964.1_Missense_Mutation_p.L398F Q92859 NEO1_HUMAN neogenin 1 398 Ig-like C2-type 4. axon guidance|cell adhesion|positive regulation of muscle cell differentiation Golgi apparatus|integral to plasma membrane|nucleus NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2) 57 TTCAAGTTTTGGGTCTGGTGA 0.328000 14 34 0 0 1 0 0 PCDH8 5100 broad.mit.edu 37 13 53422069 53422069 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr13:53422069C>T ENST00000377942.3 - 1 706 c.503G>A c.(502-504)gGg>gAg p.G168E PCDH8_ENST00000338862.4_Missense_Mutation_p.G168E NM_002590.3 NP_002581.2 O95206 PCDH8_HUMAN protocadherin 8 168 Cadherin 2. cell-cell signaling|homophilic cell adhesion cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane calcium ion binding breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1) 36 Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.19e-08) GGTCTGCAGCCCGTTGGCGCC 0.716000 11 9 0 0 1 0 0 ZNF493 284443 broad.mit.edu 37 19 21606572 21606572 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr19:21606572C>T ENST00000392288.2 + 4 1220 c.1111C>T c.(1111-1113)Cat>Tat p.H371Y CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000355504.4_Missense_Mutation_p.H243Y NM_001076678.2 NP_001070146.1 Q6ZR52 ZN493_HUMAN zinc finger protein 493 243 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 30 TAAAAGAATTCATACTGGAGA 0.343000 7 56 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168106629 168106629 + Silent SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr2:168106629C>T ENST00000409195.1 + 9 8816 c.8727C>T c.(8725-8727)gtC>gtT p.V2909V XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Silent_p.V2687V|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Silent_p.V2909V|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 2734 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 AGAAACAAGTCTTCTCTAATA 0.388000 37 62 0 0 1 0 0 GINS1 9837 broad.mit.edu 37 20 25405940 25405940 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr20:25405940C>T ENST00000262460.4 + 5 518 c.424C>T c.(424-426)Cca>Tca p.P142S GINS1_ENST00000429262.2_3'UTR NM_021067.3 NP_066545.3 Q14691 PSF1_HUMAN GINS complex subunit 1 (Psf1 homolog) 142 DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle cytoplasm|nucleoplasm central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1) 7 GGATATGAAACCACCAAAAAG 0.318000 24 51 0 0 1 0 0 SF3B1 23451 broad.mit.edu 37 2 198274577 198274577 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr2:198274577G>A ENST00000335508.5 - 7 912 c.821C>T c.(820-822)cCa>cTa p.P274L NM_012433.2 NP_036565.2 O75533 SF3B1_HUMAN splicing factor 3b, subunit 1, 155kDa 274 Interaction with PPP1R8. nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex protein binding NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 633 OV - Ovarian serous cystadenocarcinoma(117;0.246) CGCATGGCCTGGTGTATCACC 0.547000 Mis myelodysplastic syndrome 79 175 0 0 1 0 0 ADAMTS18 170692 broad.mit.edu 37 16 77334194 77334194 + Silent SNP G G A rs148705153 TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr16:77334194G>A ENST00000282849.5 - 17 3058 c.2640C>T c.(2638-2640)atC>atT p.I880I NM_199355.2 NP_955387.1 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 18 880 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 118 CTGACTGCACGATACTCCAGG 0.478000 8 44 0 0 1 0 0 FCGR3A 2214 broad.mit.edu 37 1 161514565 161514565 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:161514565C>T ENST00000367969.3 - 4 794 c.611G>A c.(610-612)gGc>gAc p.G204D FCGR3A_ENST00000443193.1_Missense_Mutation_p.G203D|FCGR3A_ENST00000540048.1_Missense_Mutation_p.G168D|FCGR3A_ENST00000436743.1_Missense_Mutation_p.G168D NM_000569.6 NP_000560.5 P08637 FCG3A_HUMAN Fc fragment of IgG, low affinity IIIa, receptor (CD16a) 168 immune response|regulation of immune response extracellular region|integral to membrane|plasma membrane IgG binding|receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 24 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) GAAGTAGGAGCCGCTGTCTTT 0.448000 62 80 0 0 1 0 0 C1orf172 126695 broad.mit.edu 37 1 27278461 27278461 + Silent SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:27278461G>A ENST00000320567.5 - 2 499 c.411C>T c.(409-411)agC>agT p.S137S NM_152365.2 NP_689578.2 Q8NAX2 CA172_HUMAN chromosome 1 open reading frame 172 137 NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 17 all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419) CACGATCAGGGCTGGGGGGCA 0.637000 5 36 0 0 1 0 0 MTDH 92140 broad.mit.edu 37 8 98703285 98703285 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr8:98703285C>T ENST00000336273.3 + 6 1245 c.917C>T c.(916-918)tCc>tTc p.S306F MTDH_ENST00000519934.1_Missense_Mutation_p.S283F NM_178812.3 NP_848927.2 Q86UE4 LYRIC_HUMAN metadherin 306 lipopolysaccharide-mediated signaling pathway|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of angiogenesis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein kinase B signaling cascade apical plasma membrane|endoplasmic reticulum membrane|integral to membrane|intercellular canaliculus|nuclear body|nuclear membrane|nucleolus|perinuclear region of cytoplasm|tight junction NF-kappaB binding|RNA polymerase II transcription factor binding|transcription coactivator activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 32 Breast(36;2.56e-06) OV - Ovarian serous cystadenocarcinoma(57;0.178) AAGTGGAACTCCGTTTCACCT 0.468000 15 74 0 0 1 0 0 CASR 846 broad.mit.edu 37 3 122002902 122002902 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr3:122002902C>T ENST00000498619.1 + 7 2569 c.2131C>T c.(2131-2133)Cgt>Tgt p.R711C CASR_ENST00000490131.1_Missense_Mutation_p.R701C|CASR_ENST00000296154.5_Missense_Mutation_p.R701C NM_001178065.1 NP_001171536.1 P41180 CASR_HUMAN calcium-sensing receptor 701 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) GAAAACCAACCGTGTCCTCCT 0.602000 32 61 0 0 1 0 0 ARHGAP39 80728 broad.mit.edu 37 8 145773732 145773732 + Silent SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr8:145773732G>A ENST00000276826.5 - 4 939 c.738C>T c.(736-738)tcC>tcT p.S246S ARHGAP39_ENST00000377307.2_Silent_p.S246S|ARHGAP39_ENST00000540274.1_Silent_p.S246S Q9C0H5 RHG39_HUMAN Rho GTPase activating protein 39 246 Pro-rich. axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|nucleus GTPase activator activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 22 GCTGGCTGCCGGAGGGTCTGC 0.687000 24 15 0 0 1 0 0 DAW1 164781 broad.mit.edu 37 2 228758521 228758521 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr2:228758521G>A ENST00000373666.2 + 5 964 c.328G>A c.(328-330)Gga>Aga p.G110R DAW1_ENST00000309931.2_Missense_Mutation_p.G110R|DAW1_ENST00000472604.1_3'UTR|DAW1_ENST00000545118.1_Missense_Mutation_p.G95R dynein assembly factor with WDR repeat domains 1 CTTTATCACAGGAAGCTATGA 0.443000 19 37 0 0 1 0 0 PRDM2 7799 broad.mit.edu 37 1 14106678 14106678 + Silent SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:14106678C>T ENST00000235372.7 + 8 3244 c.2388C>T c.(2386-2388)agC>agT p.S796S PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000413440.1_Silent_p.S595S|PRDM2_ENST00000343137.4_Silent_p.S595S|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000311066.5_Silent_p.S796S NM_012231.4 NP_036363.2 Q13029 PRDM2_HUMAN PR domain containing 2, with ZNF domain 796 Golgi apparatus|nucleus DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 55 Ovarian(185;0.249) all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) GBM - Glioblastoma multiforme(2;0.00182) UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145) AAACTGTGAGCCCTCCATGCT 0.473000 25 38 0 0 1 0 0 YTHDC1 91746 broad.mit.edu 37 4 69203552 69203552 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr4:69203552G>A ENST00000344157.4 - 3 532 c.197C>T c.(196-198)tCt>tTt p.S66F YTHDC1_ENST00000355665.3_Missense_Mutation_p.S66F|YTHDC1_ENST00000579690.1_Missense_Mutation_p.S66F NM_001031732.2 NP_001026902.1 Q96MU7 YTDC1_HUMAN YTH domain containing 1 66 NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 30 CAGTTGTCTAGAATGGACAGA 0.328000 16 54 0 0 1 0 0 DNAI2 64446 broad.mit.edu 37 17 72308294 72308294 + Silent SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr17:72308294G>A ENST00000579490.1 + 11 1953 c.1818G>A c.(1816-1818)gaG>gaA p.E606E DNAI2_ENST00000307504.5_Intron|DNAI2_ENST00000446837.2_Silent_p.E549E|DNAI2_ENST00000311014.6_Silent_p.E549E|DNAI2_ENST00000582036.1_Silent_p.E537E Q9GZS0 DNAI2_HUMAN dynein, axonemal, intermediate chain 2 549 cilium assembly axonemal dynein complex|cilium axoneme|cytoplasm|microtubule microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 39 GCAAGGCCGAGGAGGAGTTCT 0.607000 Kartagener syndrome 19 25 0 0 1 0 0 OR5K4 403278 broad.mit.edu 37 3 98072795 98072795 + Missense_Mutation SNP C C A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr3:98072795C>A ENST00000354924.2 + 1 98 c.98C>A c.(97-99)gCc>gAc p.A33D RP11-325B23.2_ENST00000508616.1_lincRNA NM_001005517.1 NP_001005517.1 A6NMS3 OR5K4_HUMAN olfactory receptor, family 5, subfamily K, member 4 33 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1) 21 GTGTTCTCTGCCATCTATCTG 0.453000 25 230 2.79863e-10 2.86253e-10 1 1 0 FANCB 2187 broad.mit.edu 37 X 14862651 14862651 + Silent SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chrX:14862651G>A ENST00000398334.1 - 9 2406 c.2139C>T c.(2137-2139)ttC>ttT p.F713F FANCB_ENST00000324138.3_Silent_p.F713F NM_001018113.1 NP_001018123.1 Q8NB91 FANCB_HUMAN Fanconi anemia, complementation group B 713 DNA repair nucleoplasm p.F713F(1) NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1) 24 Hepatocellular(33;0.183) AAATCCCTTCGAATGGTGTTC 0.368000 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 35 76 0 0 1 0 0 CD96 10225 broad.mit.edu 37 3 111263892 111263892 + Splice_Site SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr3:111263892G>A ENST00000352690.4 + 2 301 c.e2-1 CD96_ENST00000283285.5_Splice_Site|CD96_ENST00000438817.2_Splice_Site NM_005816.4 NP_005807.1 P40200 TACT_HUMAN CD96 molecule cell adhesion|immune response|regulation of immune response integral to plasma membrane central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5) 35 TTTCTTTTCAGGAGTTTGGGA 0.403000 Opitz Trigonocephaly syndrome 36 102 0 0 1 0 0 PKP2 5318 broad.mit.edu 37 12 33031966 33031966 + Splice_Site SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr12:33031966C>T ENST00000340811.4 - 2 332 c.223_splice c.e2-1 p.G75_splice PKP2_ENST00000070846.6_Splice_Site_p.G75_splice NM_001005242.2 NP_001005242.2 Q99959 PKP2_HUMAN plakophilin 2 75 cell-cell adhesion desmosome|integral to membrane|nucleus binding NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1) 50 Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239) GTGAAGATTTCCTGCAATCAA 0.333000 6 36 0 0 1 0 0 ASCC1 51008 broad.mit.edu 37 10 73956612 73956612 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr10:73956612C>T ENST00000342444.4 - 6 631 c.530G>A c.(529-531)gGa>gAa p.G177E ASCC1_ENST00000317126.4_Missense_Mutation_p.G149E|ASCC1_ENST00000394919.1_Missense_Mutation_p.G149E|ASCC1_ENST00000317168.6_Missense_Mutation_p.G149E|ASCC1_ENST00000394915.3_Missense_Mutation_p.G177E|ASCC1_ENST00000545550.1_Missense_Mutation_p.G171E NM_001198799.2 NP_001185728.1 Q8N9N2 ASCC1_HUMAN activating signal cointegrator 1 complex subunit 1 177 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|transcription factor complex RNA binding endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(2)|skin(1) 7 TCTCAGGAATCCTTCCTGAAC 0.408000 17 13 0 0 1 0 0 IMPG1 3617 broad.mit.edu 37 6 76717201 76717201 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr6:76717201C>T ENST00000369950.3 - 9 1072 c.883G>A c.(883-885)Gat>Aat p.D295N IMPG1_ENST00000369963.3_3'UTR NM_001563.2 NP_001554.2 Q17R60 IMPG1_HUMAN interphotoreceptor matrix proteoglycan 1 295 SEA 1. visual perception proteinaceous extracellular matrix extracellular matrix structural constituent|receptor activity breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222) AATTACCCATCTTTTTCTTTC 0.264000 11 12 0 0 1 0 0 UGT2B17 7367 broad.mit.edu 37 4 69431339 69431339 + Missense_Mutation SNP A A G TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr4:69431339A>G ENST00000317746.2 - 2 866 c.824T>C c.(823-825)gTt>gCt p.V275A NM_001077.3 NP_001068.1 O75795 UDB17_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B17 275 steroid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1) 30 AACAAAATCAACATTTGGTAA 0.403000 54 113 0 0 1 0 0 GRM7 2917 broad.mit.edu 37 3 7494303 7494303 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr3:7494303G>A ENST00000486284.1 + 6 1458 c.1184G>A c.(1183-1185)aGa>aAa p.R395K GRM7_ENST00000403881.1_Missense_Mutation_p.R395K|GRM7_ENST00000402647.2_Missense_Mutation_p.R395K|GRM7_ENST00000357716.4_Missense_Mutation_p.R395K|GRM7_ENST00000389336.4_Missense_Mutation_p.R395K|GRM7_ENST00000458641.2_3'UTR NM_181874.2 NP_870989.1 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 395 negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 76 L-Glutamic Acid(DB00142) GGACAGGAGAGAATTGGAAAA 0.418000 23 37 0 0 1 0 0 P2RY10 27334 broad.mit.edu 37 X 78216833 78216833 + Silent SNP C C A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chrX:78216833C>A ENST00000171757.2 + 4 1096 c.816C>A c.(814-816)acC>acA p.T272T P2RY10_ENST00000544091.1_Silent_p.T272T NM_014499.2 NP_055314.1 O00398 P2Y10_HUMAN purinergic receptor P2Y, G-protein coupled, 10 272 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2) 42 TAAAGGAAACCATCATTAGCA 0.428000 45 252 5.20006e-24 5.374e-24 1 1 0 ATP2B2 491 broad.mit.edu 37 3 10370631 10370631 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr3:10370631G>A ENST00000397077.1 - 22 4039 c.3464C>T c.(3463-3465)tCg>tTg p.S1155L ATP2B2_ENST00000343816.4_Missense_Mutation_p.S1186L|ATP2B2_ENST00000360273.2_Missense_Mutation_p.S1200L|ATP2B2_ENST00000352432.4_Missense_Mutation_p.S1200L|ATP2B2_ENST00000383800.4_Missense_Mutation_p.S1155L|ATP2B2_ENST00000467702.2_5'UTR Q01814 AT2B2_HUMAN ATPase, Ca++ transporting, plasma membrane 2 1200 ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation cytosol|integral to membrane|plasma membrane ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2) 74 CGGCGGGCTCGAGTTCTGCTT 0.552000 22 57 0 0 1 0 0 MADD 8567 broad.mit.edu 37 11 47304015 47304015 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr11:47304015G>A ENST00000342922.4 + 9 1910 c.1553G>A c.(1552-1554)cGg>cAg p.R518Q MADD_ENST00000349238.3_Missense_Mutation_p.R518Q|MADD_ENST00000395336.3_Missense_Mutation_p.R518Q|MADD_ENST00000395344.3_Missense_Mutation_p.R518Q|MADD_ENST00000489415.1_3'UTR|MADD_ENST00000402192.2_Missense_Mutation_p.R518Q|MADD_ENST00000406482.1_Missense_Mutation_p.R518Q|MADD_ENST00000311027.5_Missense_Mutation_p.R518Q|MADD_ENST00000407859.3_Missense_Mutation_p.R518Q|MADD_ENST00000402799.1_Missense_Mutation_p.R518Q NM_130470.2 NP_569826.2 Q8WXG6 MADD_HUMAN MAP-kinase activating death domain 518 dDENN. activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle cytoplasm|integral to membrane|plasma membrane death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 84 Lung(87;0.182) CTCTTTCCTCGGCCTGTGGTA 0.557000 19 80 0 0 1 0 0 TNXB 7148 broad.mit.edu 37 6 32011786 32011786 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr6:32011786C>T ENST00000375244.3 - 34 11585 c.11384G>A c.(11383-11385)gGa>gAa p.G3795E TNXB_ENST00000375247.2_Missense_Mutation_p.G3793E|TNXB_ENST00000451343.1_Missense_Mutation_p.G224E P22105 TENX_HUMAN tenascin XB 3840 actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 GGCACCACCTCCGTCCGCCAG 0.617000 12 12 0 0 1 0 0 BPIFB6 128859 broad.mit.edu 37 20 31625434 31625434 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr20:31625434C>T ENST00000349552.1 + 8 736 c.736C>T c.(736-738)Cct>Tct p.P246S NM_174897.2 NP_777557.1 Q8NFQ5 BPIL3_HUMAN BPI fold containing family B, member 6 246 extracellular region lipid binding CCTCACGTTCCCTGAGGGTTA 0.577000 27 74 0 0 1 0 0 APCS 325 broad.mit.edu 37 1 159558206 159558206 + Nonsense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:159558206G>A ENST00000255040.2 + 2 477 c.380G>A c.(379-381)tGg>tAg p.W127* NM_001639.3 NP_001630.1 P02743 SAMP_HUMAN amyloid P component, serum 127 Pentaxin. acute-phase response|chaperone-mediated protein complex assembly|protein folding extracellular space metal ion binding|sugar binding|unfolded protein binding breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2) 20 all_hematologic(112;0.0429) GCTGAATTTTGGATCAATGGG 0.478000 21 99 0 0 1 0 0 AC112229.4 0 broad.mit.edu 37 2 111144819 111144819 + RNA SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr2:111144819C>T ENST00000606848.1 - 0 921 TTAGGGCCTCCACATGGTAGT 0.572000 6 41 0 0 1 0 0 BEGAIN 57596 broad.mit.edu 37 14 101004716 101004716 + Nonsense_Mutation SNP T T A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr14:101004716T>A ENST00000556751.1 - 5 4584 c.1180A>T c.(1180-1182)Aag>Tag p.K394* BEGAIN_ENST00000355173.2_Nonsense_Mutation_p.K458*|BEGAIN_ENST00000443071.2_Nonsense_Mutation_p.K458* Q9BUH8 BEGIN_HUMAN brain-enriched guanylate kinase-associated 458 cytoplasm|membrane protein binding cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1) 14 Melanoma(154;0.212) TCGGCCTTCTTGCCCGGGCTG 0.721000 6 7 0 0 1 0 0 ANKHD1 54882 broad.mit.edu 37 5 139918661 139918661 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr5:139918661C>T ENST00000297183.6 + 33 7686 c.7562C>T c.(7561-7563)gCc>gTc p.A2521V ANKHD1_ENST00000544120.1_Missense_Mutation_p.A845V|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.A2521V|ANKHD1_ENST00000360839.2_Missense_Mutation_p.A2521V NM_020690.5 NP_065741.3 ankyrin repeat and KH domain containing 1 breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGCACTGATGCCCAGCAGGTA 0.368000 6 38 0 0 1 0 0 MYLK 4638 broad.mit.edu 37 3 123471262 123471262 + Missense_Mutation SNP G G A rs111422191 TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr3:123471262G>A ENST00000360772.3 - 6 667 c.289C>T c.(289-291)Cat>Tat p.H97Y MYLK_ENST00000346322.5_Missense_Mutation_p.H97Y|MYLK_ENST00000475616.1_Missense_Mutation_p.H97Y|MYLK_ENST00000360304.3_Missense_Mutation_p.H97Y|MYLK_ENST00000359169.1_Missense_Mutation_p.H97Y Q15746 MYLK_HUMAN myosin light chain kinase 97 Ig-like C2-type 1. aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) TCCTCCTCATGGACAGCATGA 0.587000 38 66 0 0 1 0 0 TRPC7 57113 broad.mit.edu 37 5 135601921 135601921 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr5:135601921C>T ENST00000513104.1 - 5 1614 c.1332G>A c.(1330-1332)atG>atA p.M444I TRPC7_ENST00000426057.2_Missense_Mutation_p.M328I|TRPC7_ENST00000355180.3_Missense_Mutation_p.M383I NM_020389.2 NP_065122.1 Q9HCX4 TRPC7_HUMAN transient receptor potential cation channel, subfamily C, member 7 444 axon guidance|platelet activation integral to membrane|plasma membrane calcium channel activity|protein binding NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3) 46 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) AGACCCACTTCATAATGAGCA 0.383000 10 112 0 0 1 0 0 C7orf34 135927 broad.mit.edu 37 7 142637533 142637533 + Silent SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr7:142637533G>A ENST00000409607.3 + 2 344 c.303G>A c.(301-303)caG>caA p.Q101Q NM_178829.4 NP_849151.2 Q96L11 CG034_HUMAN chromosome 7 open reading frame 34 76 extracellular region large_intestine(1)|lung(4) 5 Melanoma(164;0.059) AAGAAGACCAGTCGTCCAAGA 0.542000 33 108 0 0 1 0 0 DDOST 1650 broad.mit.edu 37 1 20979418 20979418 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:20979418G>A ENST00000375048.3 - 9 1145 c.1040C>T c.(1039-1041)cCc>cTc p.P347L DDOST_ENST00000415136.2_Missense_Mutation_p.P310L|DDOST_ENST00000602624.2_Missense_Mutation_p.P330L NM_005216.4 NP_005207.2 P39656 OST48_HUMAN dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit (non-catalytic) 347 innate immune response|post-translational protein modification|response to cytokine stimulus|T cell activation integral to membrane|microsome|oligosaccharyltransferase complex dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|skin(1) 13 all_lung(284;2.98e-05)|Lung NSC(340;3.25e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000141)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00046)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) GCCATCAAAGGGGACCCATTT 0.517000 30 45 0 0 1 0 0 SAMD3 154075 broad.mit.edu 37 6 130476083 130476083 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr6:130476083C>T ENST00000368134.2 - 11 1518 c.910G>A c.(910-912)Gaa>Aaa p.E304K SAMD3_ENST00000457563.2_Missense_Mutation_p.E328K|SAMD3_ENST00000437477.2_Missense_Mutation_p.E304K|SAMD3_ENST00000439090.2_Missense_Mutation_p.E304K NM_001258275.1 NP_001245204.1 Q8N6K7 SAMD3_HUMAN sterile alpha motif domain containing 3 304 breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 29 GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128) TTGTCAATTTCTCTCCAGTCC 0.373000 26 37 0 0 1 0 0 B3GNTL1 146712 broad.mit.edu 37 17 80915356 80915356 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr17:80915356G>A ENST00000576599.1 - 9 1157 c.407C>T c.(406-408)aCc>aTc p.T136I B3GNTL1_ENST00000320865.3_Missense_Mutation_p.T247I Q67FW5 B3GNL_HUMAN UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1 247 transferase activity, transferring glycosyl groups endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 8 Breast(20;0.000443)|all_neural(118;0.0779) all_cancers(8;0.0396)|all_epithelial(8;0.0556) BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868) GACGCGGTGGGTCCAGATGGT 0.647000 7 8 0 0 1 0 0 HS6ST2 90161 broad.mit.edu 37 X 132091215 132091215 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chrX:132091215C>T ENST00000370836.2 - 3 983 c.568G>A c.(568-570)Gtg>Atg p.V190M HS6ST2_ENST00000521489.1_Missense_Mutation_p.V190M|HS6ST2_ENST00000370837.1_Missense_Mutation_p.V44M|HS6ST2_ENST00000370833.2_Missense_Mutation_p.V44M NM_147175.3 NP_671704.3 Q96MM7 H6ST2_HUMAN heparan sulfate 6-O-sulfotransferase 2 190 integral to membrane sulfotransferase activity central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2) 9 Acute lymphoblastic leukemia(192;0.000127) GGGTCCGGCACCGGGGAGCTG 0.622000 19 40 0 0 1 0 0 SYT9 143425 broad.mit.edu 37 11 7441758 7441758 + Silent SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr11:7441758C>T ENST00000318881.6 + 6 1596 c.1359C>T c.(1357-1359)atC>atT p.I453I NM_175733.3 NP_783860.1 Q86SS6 SYT9_HUMAN synaptotagmin IX 453 C2 2. cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 38 Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949) ATGAGATCATCGGCGTGTGTC 0.443000 15 69 0 0 1 0 0 RAB11FIP1 80223 broad.mit.edu 37 8 37730676 37730676 + Silent SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr8:37730676C>T ENST00000330843.4 - 4 1656 c.1644G>A c.(1642-1644)gcG>gcA p.A548A RAB11FIP1_ENST00000287263.4_Intron|RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000524118.1_Intron|RAB11FIP1_ENST00000523182.1_5'UTR NM_001002814.2 NP_001002814.2 Q6WKZ4 RFIP1_HUMAN RAB11 family interacting protein 1 (class I) 548 protein transport centrosome|phagocytic vesicle membrane|recycling endosome protein binding NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 49 Lung NSC(58;0.118)|all_lung(54;0.195) LUSC - Lung squamous cell carcinoma(8;3.62e-11) CTGTGGGTTGCGCCTCTGGAG 0.502000 10 54 0 0 1 0 0 ASTN1 460 broad.mit.edu 37 1 176857236 176857236 + Silent SNP G G T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:176857236G>T ENST00000367654.2 - 18 3082 c.3069C>A c.(3067-3069)ctC>ctA p.L1023L ASTN1_ENST00000367657.3_Silent_p.L1015L|ASTN1_ENST00000361833.2_Silent_p.L1015L|ASTN1_ENST00000424564.2_Silent_p.L1015L O14525 ASTN1_HUMAN astrotactin 1 1023 cell migration|neuron cell-cell adhesion integral to membrane NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 CACAGGTGGGGAGTCCATCAG 0.507000 5 46 0.014758 0.014791 1 1 0 ZWINT 11130 broad.mit.edu 37 10 58119549 58119549 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr10:58119549C>T ENST00000373944.3 - 4 360 c.322G>A c.(322-324)Gag>Aag p.E108K ZWINT_ENST00000361148.6_Missense_Mutation_p.E108K|ZWINT_ENST00000395405.1_Missense_Mutation_p.E108K O95229 ZWINT_HUMAN ZW10 interacting kinetochore protein 108 Interaction with NDC80 and ZW10. cell division|establishment of localization in cell|mitotic cell cycle checkpoint|mitotic prometaphase|mitotic sister chromatid segregation|phosphatidylinositol-mediated signaling|spindle organization condensed chromosome kinetochore|cytosol|nucleus protein N-terminus binding NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|prostate(1) 20 TTGATGGCCTCTACGTGCTCC 0.537000 25 61 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179640361 179640361 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr2:179640361G>A ENST00000589042.1 - 28 6454 c.6230C>T c.(6229-6231)gCt>gTt p.A2077V TTN_ENST00000342175.6_Missense_Mutation_p.A2031V|TTN_ENST00000591111.1_Missense_Mutation_p.A2077V|TTN_ENST00000359218.5_Missense_Mutation_p.A2031V|TTN_ENST00000360870.5_Missense_Mutation_p.A2077V|TTN_ENST00000460472.2_Missense_Mutation_p.A2031V|TTN_ENST00000342992.6_Missense_Mutation_p.A2077V NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 1840 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GATTTTTGGAGCCTCCATACT 0.458000 31 58 0 0 1 0 0 NUFIP2 57532 broad.mit.edu 37 17 27613933 27613933 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr17:27613933C>T ENST00000225388.4 - 2 1137 c.1079G>A c.(1078-1080)aGc>aAc p.S360N NUFIP2_ENST00000579665.1_Intron NM_020772.2 NP_065823.1 Q7Z417 NUFP2_HUMAN nuclear fragile X mental retardation protein interacting protein 2 360 nucleus|polysomal ribosome protein binding|RNA binding breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1) 24 BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551) CTTAACTTTGCTTGCATAACT 0.413000 43 113 0 0 1 0 0 RBM47 54502 broad.mit.edu 37 4 40440109 40440109 + Missense_Mutation SNP G G T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr4:40440109G>T ENST00000319592.4 - 4 1511 c.802C>A c.(802-804)Cag>Aag p.Q268K RBM47_ENST00000295971.7_Missense_Mutation_p.Q268K|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000381795.6_Missense_Mutation_p.Q268K|RBM47_ENST00000514014.1_Missense_Mutation_p.Q230K|RBM47_ENST00000381793.2_Missense_Mutation_p.Q268K A0AV96 RBM47_HUMAN RNA binding motif protein 47 268 RRM 3. nucleus nucleotide binding|RNA binding breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 29 GGGTTGAACTGGCCGAAGCTC 0.592000 7 87 8.12818e-05 8.19219e-05 1 1 0 PCDHA7 56141 broad.mit.edu 37 5 140215240 140215240 + Silent SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr5:140215240G>A ENST00000525929.1 + 1 1272 c.1272G>A c.(1270-1272)gtG>gtA p.V424V PCDHA7_ENST00000378125.3_Silent_p.V424V|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron NM_018910.2 NP_061733.1 NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATGAGCTGGTGGTTACCGCGC 0.632000 76 111 0 0 1 0 0 PTPRT 11122 broad.mit.edu 37 20 41306773 41306773 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr20:41306773C>T ENST00000373198.3 - 7 1121 c.886G>A c.(886-888)Gag>Aag p.E296K PTPRT_ENST00000373201.1_Missense_Mutation_p.E296K|PTPRT_ENST00000373193.3_Missense_Mutation_p.E296K|PTPRT_ENST00000373190.1_Missense_Mutation_p.E296K|PTPRT_ENST00000373187.1_Missense_Mutation_p.E296K|PTPRT_ENST00000373184.1_Missense_Mutation_p.E296K|PTPRT_ENST00000356100.2_Missense_Mutation_p.E296K NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 296 Fibronectin type-III 1. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) GCCAGCAGCTCTGGGGGAGCA 0.517000 11 31 0 0 1 0 0 KIAA1522 57648 broad.mit.edu 37 1 33236440 33236440 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:33236440C>T ENST00000401073.2 + 6 1730 c.1660C>T c.(1660-1662)Cca>Tca p.P554S KIAA1522_ENST00000373480.1_Missense_Mutation_p.P495S|KIAA1522_ENST00000373481.3_Missense_Mutation_p.P506S|KIAA1522_ENST00000294521.3_Intron NM_020888.2 NP_065939.2 Q9P206 K1522_HUMAN KIAA1522 495 Pro-rich. breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 24 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244) TCCACCCAACCCAGCCAACAG 0.677000 3 15 0 0 1 0 0 C2orf71 388939 broad.mit.edu 37 2 29294555 29294555 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr2:29294555G>A ENST00000331664.5 - 1 2572 c.2573C>T c.(2572-2574)tCc>tTc p.S858F NM_001029883.2 NP_001025054.1 A6NGG8 CB071_HUMAN chromosome 2 open reading frame 71 858 response to stimulus|visual perception photoreceptor outer segment NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1) 60 TTCCTTGGGGGAGTTCTCTGT 0.607000 25 85 0 0 1 0 0 ZNF695 57116 broad.mit.edu 37 1 247150352 247150352 + Missense_Mutation SNP C C G TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:247150352C>G ENST00000339986.7 - 4 1612 c.1465G>C c.(1465-1467)Gag>Cag p.E489Q ZNF695_ENST00000487338.2_Intron|ZNF695_ENST00000498046.2_Intron NM_020394.4 NP_065127.4 Q8IW36 ZN695_HUMAN zinc finger protein 695 489 regulation of transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1) 13 all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518) all_cancers(173;0.0266) OV - Ovarian serous cystadenocarcinoma(106;0.00271) TATGGTTTCTCTCTGGTATGA 0.413000 33 58 0 0 1 0 0 RTEL1 51750 broad.mit.edu 37 20 62292766 62292766 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr20:62292766C>T ENST00000318100.4 + 3 1045 c.218C>T c.(217-219)gCc>gTc p.A73V RTEL1_ENST00000488316.1_3'UTR|RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.A73V|RTEL1_ENST00000508582.2_Missense_Mutation_p.A73V|RTEL1_ENST00000360203.5_Missense_Mutation_p.A73V|RTEL1_ENST00000370018.3_Missense_Mutation_p.A73V Q9NZ71 RTEL1_HUMAN regulator of telomere elongation helicase 1 73 Helicase ATP-binding. DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13) Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107) CGCAAGATTGCCGAGAGGGCG 0.637000 24 52 0 0 1 0 0 HECW2 57520 broad.mit.edu 37 2 197081790 197081790 + Missense_Mutation SNP C C A rs143511416 TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr2:197081790C>A ENST00000260983.2 - 27 4618 c.4436G>T c.(4435-4437)cGg>cTg p.R1479L HECW2_ENST00000409111.1_Missense_Mutation_p.R1123L NM_020760.1 NP_065811.1 Q9P2P5 HECW2_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 1479 HECT. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm ubiquitin-protein ligase activity biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 113 CCAGAACCACCGAATTACAAT 0.358000 24 78 1.85244e-09 1.89042e-09 1 1 0 FZD4 8322 broad.mit.edu 37 11 86663456 86663456 + Silent SNP A A G TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr11:86663456A>G ENST00000531380.1 - 2 647 c.342T>C c.(340-342)atT>atC p.I114I PRSS23_ENST00000533902.2_3'UTR NM_012193.3 NP_036325.2 Q9ULV1 FZD4_HUMAN frizzled family receptor 4 114 FZ. I -> T (in EVR1). canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|negative regulation of cell-substrate adhesion|neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|progesterone secretion|regulation of vascular endothelial growth factor receptor signaling pathway|substrate adhesion-dependent cell spreading|vasculogenesis|Wnt receptor signaling pathway, calcium modulating pathway cell projection|cell surface|cytoplasm cytokine binding|G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding breast(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(6)|skin(1) 21 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) CGCATGGGCCAATGGGGATGT 0.448000 37 65 0 0 1 0 0 DIP2B 57609 broad.mit.edu 37 12 51138511 51138511 + Silent SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr12:51138511G>A ENST00000301180.5 + 38 4654 c.4620G>A c.(4618-4620)gtG>gtA p.V1540V NM_173602.2 NP_775873.2 Q9P265 DIP2B_HUMAN DIP2 disco-interacting protein 2 homolog B (Drosophila) 1540 Poly-Val. 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 TGGTTGTGGTGGACCCAGGTG 0.547000 10 53 0 0 1 0 0 LMNA 4000 broad.mit.edu 37 1 156085021 156085021 + Silent SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:156085021G>A ENST00000368300.4 + 1 524 c.312G>A c.(310-312)ctG>ctA p.L104L LMNA_ENST00000368299.3_Silent_p.L104L|LMNA_ENST00000368301.2_Silent_p.L104L|LMNA_ENST00000347559.2_Silent_p.L104L|LMNA_ENST00000361308.4_Silent_p.L104L NM_170707.3 NP_733821.1 P02545 LMNA_HUMAN lamin A/C 104 Coil 1B.|Interaction with MLIP.|Rod. cellular component disassembly involved in apoptosis|cellular response to hypoxia|establishment or maintenance of microtubule cytoskeleton polarity|muscle organ development|positive regulation of cell aging|regulation of apoptosis|regulation of cell migration cytoplasm|lamin filament|nuclear envelope|perinuclear region of cytoplasm protein binding|structural molecule activity NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4) 10 Hepatocellular(266;0.158) GCCTGCAGCTGGAGCTGAGCA 0.687000 Werner syndrome;Hutchinson-Gilford Progeria Syndrome 8 38 0 0 1 0 0 TMEM163 81615 broad.mit.edu 37 2 135470881 135470881 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr2:135470881C>T ENST00000281924.6 - 2 275 c.211G>A c.(211-213)Gaa>Aaa p.E71K NM_030923.4 NP_112185.1 Q8TC26 TM163_HUMAN transmembrane protein 163 71 integral to membrane endometrium(1)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1) 16 BRCA - Breast invasive adenocarcinoma(221;0.154) GTGCTGCTTTCTAGTAAGCCT 0.483000 33 74 0 0 1 0 0 CPED1 79974 broad.mit.edu 37 7 120911478 120911478 + Silent SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr7:120911478C>T ENST00000310396.5 + 22 3329 c.2862C>T c.(2860-2862)ttC>ttT p.F954F NM_024913.4 NP_079189.4 cadherin-like and PC-esterase domain containing 1 GATGTCATTTCCATGAGGTAT 0.338000 10 117 0 0 1 0 0 RSBN1 54665 broad.mit.edu 37 1 114354840 114354840 + Silent SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:114354840C>T ENST00000261441.5 - 1 258 c.195G>A c.(193-195)caG>caA p.Q65Q NM_018364.3 NP_060834.2 Q5VWQ0 RSBN1_HUMAN round spermatid basic protein 1 65 nucleus breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2) 29 Lung SC(450;0.184) all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) CCGGCTCCTCCTGCGCCGCCA 0.657000 20 163 0 0 1 0 0 MEIG1 644890 broad.mit.edu 37 10 15008489 15008489 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr10:15008489C>T ENST00000407572.1 + 2 170 c.22C>T c.(22-24)Cca>Tca p.P8S MEIG1_ENST00000378240.1_Missense_Mutation_p.P8S NM_001080836.2 NP_001074305.1 Q5JSS6 MEIG1_HUMAN meiosis/spermiogenesis associated 1 8 kidney(1)|ovary(1)|prostate(1) 3 TGACGTAAAACCAAAATCAGT 0.328000 12 30 0 0 1 0 0 HECTD4 283450 broad.mit.edu 37 12 112646400 112646400 + Silent SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr12:112646400G>A ENST00000550722.1 - 51 7859 c.7464C>T c.(7462-7464)gtC>gtT p.V2488V HECTD4_ENST00000430131.2_Silent_p.V2212V|HECTD4_ENST00000377560.5_Silent_p.V2462V NM_001109662.3 NP_001103132.3 HECT domain containing E3 ubiquitin protein ligase 4 AGCTGAGCTCGACTTTATAAT 0.453000 21 46 0 0 1 0 0 RXFP2 122042 broad.mit.edu 37 13 32365998 32365998 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr13:32365998C>T ENST00000298386.2 + 15 1272 c.1201C>T c.(1201-1203)Ccc>Tcc p.P401S RXFP2_ENST00000380314.1_Missense_Mutation_p.P377S NM_130806.3 NP_570718.1 Q8WXD0 RXFP2_HUMAN relaxin/insulin-like family peptide receptor 2 401 integral to membrane|plasma membrane p.P401S(1) 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) AATATGTATGCCCTTGACGGA 0.393000 28 72 0 0 1 0 0 NRDE2 55051 broad.mit.edu 37 14 90745472 90745472 + Silent SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr14:90745472G>A ENST00000354366.3 - 13 3535 c.3303C>T c.(3301-3303)tcC>tcT p.S1101S NRDE2_ENST00000357904.3_Silent_p.S870S NM_017970.3 NP_060440.2 NRDE-2, necessary for RNA interference, domain containing TATTTCCTAAGGAAACCTGAG 0.468000 27 146 0 0 1 0 0 CACNA2D1 781 broad.mit.edu 37 7 81598265 81598265 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr7:81598265G>A ENST00000356860.3 - 29 2671 c.2333C>T c.(2332-2334)tCg>tTg p.S778L CACNA2D1_ENST00000356253.5_Missense_Mutation_p.S790L|CACNA2D1_ENST00000535308.1_Intron NM_000722.2 NP_000713.2 P54289 CA2D1_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 1 790 voltage-gated calcium channel complex metal ion binding breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115) CATAATGCCCGATTCATAGGC 0.279000 18 120 0 0 1 0 0 KRT10 3858 broad.mit.edu 37 17 38978543 38978543 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr17:38978543C>T ENST00000269576.5 - 1 304 c.295G>A c.(295-297)Gga>Aga p.G99R TMEM99_ENST00000301665.3_Intron|TMEM99_ENST00000496847.1_Intron NM_000421.3 NP_000412.3 P13645 K1C10_HUMAN keratin 10 99 Gly-rich.|Head. epidermis development protein binding|structural constituent of epidermis NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1) 11 Breast(137;0.000301) AAGATGCCTCCATAACTCCCA 0.572000 35 92 0 0 1 0 0 LGR5 8549 broad.mit.edu 37 12 71977842 71977842 + Silent SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr12:71977842C>T ENST00000266674.5 + 18 2363 c.2052C>T c.(2050-2052)atC>atT p.I684I LGR5_ENST00000540815.2_Silent_p.I660I|LGR5_ENST00000536515.1_Silent_p.I612I O75473 LGR5_HUMAN leucine-rich repeat containing G protein-coupled receptor 5 684 integral to plasma membrane protein-hormone receptor activity NUP107/LGR5(2) endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3) 48 TGAAAGTAATCATTTTGCTCT 0.522000 45 179 0 0 1 0 0 OR5K3 403277 broad.mit.edu 37 3 98110389 98110389 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr3:98110389G>A ENST00000383695.1 + 1 880 c.880G>A c.(880-882)Gaa>Aaa p.E294K RP11-325B23.2_ENST00000508616.1_lincRNA NM_001005516.1 NP_001005516.1 A6NET4 OR5K3_HUMAN olfactory receptor, family 5, subfamily K, member 3 294 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1) 27 AAGAAATAAGGAAGTAATAAA 0.264000 19 45 0 0 1 0 0 SDK2 54549 broad.mit.edu 37 17 71384103 71384103 + Nonsense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr17:71384103C>T ENST00000392650.3 - 30 4266 c.4266G>A c.(4264-4266)tgG>tgA p.W1422* SDK2_ENST00000388726.3_Nonsense_Mutation_p.W1422* NM_001144952.1 NP_001138424.1 Q58EX2 SDK2_HUMAN sidekick cell adhesion molecule 2 1422 Fibronectin type-III 9. cell adhesion integral to membrane breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 86 TCCCTGGCTCCCAGGACAGCA 0.701000 2 4 0 0 1 0 0 NEO1 4756 broad.mit.edu 37 15 73562535 73562535 + Silent SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr15:73562535C>T ENST00000339362.5 + 18 3126 c.2679C>T c.(2677-2679)gtC>gtT p.V893V NEO1_ENST00000560262.1_Silent_p.V893V|NEO1_ENST00000261908.6_Silent_p.V893V|NEO1_ENST00000558964.1_Silent_p.V893V Q92859 NEO1_HUMAN neogenin 1 893 Fibronectin type-III 5. axon guidance|cell adhesion|positive regulation of muscle cell differentiation Golgi apparatus|integral to plasma membrane|nucleus NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2) 57 ACTACACCGTCCGATGGAAAA 0.448000 27 74 0 0 1 0 0 MCOLN2 255231 broad.mit.edu 37 1 85424379 85424379 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:85424379G>A ENST00000370608.3 - 3 311 c.244C>T c.(244-246)Cgt>Tgt p.R82C MCOLN2_ENST00000531325.1_5'UTR|MCOLN2_ENST00000284027.5_Missense_Mutation_p.R54C NM_153259.2 NP_694991.2 Q8IZK6 MCLN2_HUMAN mucolipin 2 82 integral to membrane ion channel activity NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2) 18 all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217) AAACCAAAACGAACAAGCTAA 0.333000 4 29 0 0 1 0 0 IRX2 153572 broad.mit.edu 37 5 2749165 2749165 + Splice_Site SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr5:2749165C>T ENST00000382611.6 - 3 905 c.655_splice c.e3-1 p.G219_splice IRX2_ENST00000302057.5_Splice_Site_p.G219_splice|IRX2_ENST00000502957.1_5'UTR NM_001134222.1 NP_001127694.1 Q9BZI1 IRX2_HUMAN iroquois homeobox 2 219 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2) 26 GBM - Glioblastoma multiforme(108;0.204) GCAGGCTGATCCCTGTGGGGG 0.741000 8 34 0 0 1 0 0 TACR3 6870 broad.mit.edu 37 4 104579461 104579461 + Silent SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr4:104579461G>A ENST00000304883.2 - 2 788 c.648C>T c.(646-648)ttC>ttT p.F216F NM_001059.2 NP_001050.1 P29371 NK3R_HUMAN tachykinin receptor 3 216 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) GACACTGAGGGAAGGCAAGTA 0.423000 27 65 0 0 1 0 0 ZSCAN20 7579 broad.mit.edu 37 1 33960280 33960280 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:33960280C>T ENST00000361328.3 + 8 2489 c.2336C>T c.(2335-2337)tCt>tTt p.S779F NM_145238.3 NP_660281.2 P17040 ZSC20_HUMAN zinc finger and SCAN domain containing 20 779 viral reproduction mitochondrion|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1) 31 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211) AGTGACCATTCTAATCTCATC 0.428000 18 110 0 0 1 0 0 RPRD2 23248 broad.mit.edu 37 1 150443860 150443860 + Silent SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:150443860C>T ENST00000401000.4 + 10 2423 c.2358C>T c.(2356-2358)tcC>tcT p.S786S RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000369068.4_Silent_p.S812S|RPRD2_ENST00000539519.1_Silent_p.S786S Q5VT52 RPRD2_HUMAN regulation of nuclear pre-mRNA domain containing 2 812 Ser-rich. protein binding central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 GACCATCTTCCCTGATGGACT 0.478000 14 44 0 0 1 0 0 CLSTN1 22883 broad.mit.edu 37 1 9801249 9801249 + Silent SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:9801249C>T ENST00000377298.4 - 10 2214 c.1422G>A c.(1420-1422)gtG>gtA p.V474V CLSTN1_ENST00000361311.4_Silent_p.V464V|CLSTN1_ENST00000377288.3_Silent_p.V474V NM_001009566.1 NP_001009566.1 O94985 CSTN1_HUMAN calsyntenin 1 474 V -> A (in dbSNP:rs17853245). homophilic cell adhesion cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane calcium ion binding breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 36 all_lung(157;0.222) all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419) ACGTGCCATCCACATAGAGAG 0.542000 17 50 0 0 1 0 0 DTD1 92675 broad.mit.edu 37 20 18574378 18574378 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr20:18574378G>A ENST00000377452.3 + 2 227 c.47G>A c.(46-48)gGa>gAa p.G16E DTD1_ENST00000494921.1_3'UTR NM_080820.4 NP_543010.3 Q8TEA8 DTD1_HUMAN D-tyrosyl-tRNA deacylase 1 16 D-amino acid catabolic process cytoplasm hydrolase activity, acting on ester bonds large_intestine(4)|lung(1)|ovary(2) 7 TTTCTAGTTGGAGGAGAGCAG 0.413000 3 26 0 0 1 0 0 ZNF226 7769 broad.mit.edu 37 19 44681407 44681407 + Silent SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr19:44681407C>T ENST00000590089.1 + 7 2359 c.1992C>T c.(1990-1992)gtC>gtT p.V664V ZNF226_ENST00000454662.2_Silent_p.V664V|ZNF226_ENST00000337433.5_Silent_p.V664V|ZNF226_ENST00000588883.1_3'UTR Q9NYT6 ZN226_HUMAN zinc finger protein 226 664 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding Prostate(69;0.0352)|all_neural(266;0.202) ATCAAAAAGTCCACACTGGAG 0.473000 8 111 0 0 1 0 0 BPIFB3 359710 broad.mit.edu 37 20 31643311 31643311 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr20:31643311G>A ENST00000375494.3 + 1 82 c.82G>A c.(82-84)Gtg>Atg p.V28M NM_182658.1 NP_872599.1 P59826 LPLC3_HUMAN BPI fold containing family B, member 3 28 Leu-rich. innate immune response cytoplasm|extracellular region lipid binding|protein binding GCTAGAGACGGTGGGCACGCT 0.602000 34 61 0 0 1 0 0 PIK3CB 5291 broad.mit.edu 37 3 138426007 138426007 + Silent SNP G G A rs61755418 TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr3:138426007G>A ENST00000477593.1 - 10 1597 c.1524C>T c.(1522-1524)ttC>ttT p.F508F PIK3CB_ENST00000544716.1_Intron|PIK3CB_ENST00000289153.2_Silent_p.F508F P42338 PK3CB_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta 508 activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 41 TTACCTTATCGAAGGGAGGGT 0.328000 18 50 0 0 1 0 0 AIFM3 150209 broad.mit.edu 37 22 21328842 21328842 + Missense_Mutation SNP T T C TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr22:21328842T>C ENST00000399167.2 + 7 779 c.539T>C c.(538-540)gTg>gCg p.V180A AIFM3_ENST00000333607.6_Missense_Mutation_p.V180A|AIFM3_ENST00000335375.5_Missense_Mutation_p.V168A|AIFM3_ENST00000440238.2_Missense_Mutation_p.V180A|AIFM3_ENST00000405089.1_Missense_Mutation_p.V186A|AIFM3_ENST00000399163.2_Missense_Mutation_p.V180A|AIFM3_ENST00000465606.1_3'UTR NM_144704.2 NP_653305.1 apoptosis-inducing factor, mitochondrion-associated, 3 breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1) 21 all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0367) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195) AGGACCAAGGTGATGGCCAAG 0.607000 4 47 0 0 1 0 0 SCAND3 114821 broad.mit.edu 37 6 28542443 28542443 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr6:28542443G>A ENST00000452236.2 - 3 2656 c.2039C>T c.(2038-2040)tCa>tTa p.S680L NM_052923.1 NP_443155.1 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 680 DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity p.S680L(1) NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3) 71 TTTGTCTGGTGAAAATGGTGT 0.408000 63 145 0 0 1 0 0 AKAP6 9472 broad.mit.edu 37 14 33293208 33293208 + Silent SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr14:33293208C>T ENST00000280979.4 + 13 6359 c.6189C>T c.(6187-6189)atC>atT p.I2063I AKAP6_ENST00000557272.1_Intron NM_004274.4 NP_004265.3 Q13023 AKAP6_HUMAN A kinase (PRKA) anchor protein 6 2063 PKA-RII subunit binding domain. protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2) 122 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) TTAAGGAAATCATTGACATGG 0.408000 26 48 0 0 1 0 0 TNS4 84951 broad.mit.edu 37 17 38640851 38640851 + Silent SNP C C A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr17:38640851C>A ENST00000254051.6 - 6 1544 c.1386G>T c.(1384-1386)ctG>ctT p.L462L NM_032865.5 NP_116254.4 Q8IZW8 TENS4_HUMAN tensin 4 462 SH2. apoptosis|protein localization cytoplasm|cytoskeleton|focal adhesion actin binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 30 Breast(137;0.000496) STAD - Stomach adenocarcinoma(5;5.91e-05) CCTTCCTCAGCAGCTCGATTG 0.592000 20 61 9.95505e-16 1.0229e-15 1 1 0 SAA2 6289 broad.mit.edu 37 11 18267499 18267499 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr11:18267499G>A ENST00000414546.2 - 3 232 c.188C>T c.(187-189)gCc>gTc p.A63V SAA2_ENST00000529528.1_Missense_Mutation_p.A63V|SAA2-SAA4_ENST00000524555.1_RNA|SAA2_ENST00000528349.1_Missense_Mutation_p.A63V|SAA2_ENST00000526900.1_Missense_Mutation_p.A63V|SAA2_ENST00000256733.4_Missense_Mutation_p.A63V|SAA2_ENST00000530400.1_Missense_Mutation_p.A63V NM_001127380.2 NP_001120852.1 serum amyloid A2 central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(1) 6 TCCCCTTTTGGCAGCATCATA 0.572000 7 58 0 0 1 0 0 CPNE7 27132 broad.mit.edu 37 16 89655160 89655160 + Silent SNP G G A rs149655987 byFrequency TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr16:89655160G>A ENST00000268720.5 + 12 1360 c.1230G>A c.(1228-1230)ccG>ccA p.P410P CPNE7_ENST00000319518.8_Silent_p.P335P NM_014427.4 NP_055242.1 Q9UBL6 CPNE7_HUMAN copine VII 410 VWFA. lipid metabolic process transporter activity breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2) 17 all_hematologic(23;0.0748) all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147) CCTACCAGCCGAACGAGTACC 0.637000 7 34 0 0 1 0 0 IL18RAP 8807 broad.mit.edu 37 2 103053675 103053675 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr2:103053675G>A ENST00000264260.2 + 6 1172 c.583G>A c.(583-585)Gga>Aga p.G195R IL18RAP_ENST00000409369.1_Missense_Mutation_p.G53R NM_003853.2 NP_003844.1 O95256 I18RA_HUMAN interleukin 18 receptor accessory protein 195 Ig-like C2-type 1. cell surface receptor linked signaling pathway|inflammatory response|innate immune response integral to membrane transmembrane receptor activity autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4) 37 GGATTAGAATGGAAAACTCCT 0.358000 17 52 0 0 1 0 0 PCDH18 54510 broad.mit.edu 37 4 138452175 138452175 + Silent SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr4:138452175G>A ENST00000344876.4 - 1 1454 c.1068C>T c.(1066-1068)atC>atT p.I356I PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000412923.2_Silent_p.I356I|PCDH18_ENST00000507846.1_Silent_p.I136I NM_019035.3 NP_061908.1 Q9HCL0 PCD18_HUMAN protocadherin 18 356 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) ACATGAGGTTGATGTTAATTT 0.363000 15 33 0 0 1 0 0 CHL1 10752 broad.mit.edu 37 3 361463 361463 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr3:361463G>A ENST00000256509.2 + 3 646 c.4G>A c.(4-6)Gag>Aag p.E2K CHL1_ENST00000397491.2_Missense_Mutation_p.E2K NM_001253387.1|NM_001253388.1|NM_006614.3 NP_001240316.1|NP_001240317.1|NP_006605.2 O00533 CHL1_HUMAN cell adhesion molecule L1-like 2 axon guidance|cell adhesion|signal transduction integral to membrane|plasma membrane|proteinaceous extracellular matrix NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1) 93 all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201) Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198) AAGAGCAATGGAGCCGCTTTT 0.373000 8 27 0 0 1 0 0 BFSP2 8419 broad.mit.edu 37 3 133119089 133119089 + Silent SNP C C T rs112142146 byFrequency TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr3:133119089C>T ENST00000302334.2 + 1 251 c.162C>T c.(160-162)ccC>ccT p.P54P NM_003571.2 NP_003562.1 Q13515 BFSP2_HUMAN beaded filament structural protein 2, phakinin 54 Head. response to stimulus|visual perception cytoplasm|intermediate filament|membrane structural constituent of cytoskeleton|structural constituent of eye lens NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1) 13 TCCGAGCACCCGGGGTCTATG 0.662000 16 62 0 0 1 0 0 ZNF782 158431 broad.mit.edu 37 9 99581330 99581330 + Silent SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr9:99581330G>A ENST00000481138.1 - 6 1636 c.975C>T c.(973-975)ctC>ctT p.L325L ZNF782_ENST00000535338.1_Silent_p.L193L NM_001001662.1 NP_001001662.1 Q6ZMW2 ZN782_HUMAN zinc finger protein 782 325 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3) 33 Acute lymphoblastic leukemia(62;0.0527) GATGCACTGGGAGGGTTGAAT 0.398000 42 96 0 0 1 0 0 TNFRSF1A 7132 broad.mit.edu 37 12 6438571 6438571 + Silent SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr12:6438571G>A ENST00000162749.2 - 10 1574 c.1275C>T c.(1273-1275)ctC>ctT p.L425L TNFRSF1A_ENST00000540022.1_Silent_p.L382L NM_001065.3 NP_001056.1 P19438 TNR1A_HUMAN tumor necrosis factor receptor superfamily, member 1A 425 Death. apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|inflammatory response|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of inflammatory response|positive regulation of transcription from RNA polymerase II promoter|prostaglandin metabolic process extracellular region|integral to plasma membrane|membrane raft tumor necrosis factor receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 19 CCATGTCGCGGAGCACGCGTC 0.736000 3 3 0 0 1 0 0 KLHL34 257240 broad.mit.edu 37 X 21675792 21675792 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chrX:21675792C>T ENST00000379499.2 - 1 656 c.115G>A c.(115-117)Gaa>Aaa p.E39K NM_153270.1 NP_695002.1 Q8N239 KLH34_HUMAN kelch-like family member 34 39 BTB. cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1) 26 GCCGGGAATTCGCTGCCCTCG 0.662000 11 19 0 0 1 0 0 RTN3 10313 broad.mit.edu 37 11 63488180 63488180 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr11:63488180C>T ENST00000377819.5 + 3 2360 c.2206C>T c.(2206-2208)Ctt>Ttt p.L736F RTN3_ENST00000354497.4_Intron|RTN3_ENST00000356000.3_Intron|RTN3_ENST00000341307.2_Intron|RTN3_ENST00000339997.4_Missense_Mutation_p.L717F|RTN3_ENST00000537981.1_Intron|RTN3_ENST00000540798.1_Missense_Mutation_p.L624F NM_001265589.1 NP_001252518.1 O95197 RTN3_HUMAN reticulon 3 736 apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1) 20 AGTAGCATCTCTTGACTTAGA 0.413000 14 52 0 0 1 0 0 CLEC3A 10143 broad.mit.edu 37 16 78064435 78064435 + Silent SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr16:78064435C>T ENST00000299642.4 + 3 403 c.318C>T c.(316-318)tcC>tcT p.S106S CLEC3A_ENST00000575655.1_Silent_p.S97S|RP11-281J9.2_ENST00000563114.1_RNA|CLEC3A_ENST00000565808.1_3'UTR NM_001244755.1 NP_001231684.1 O75596 CLC3A_HUMAN C-type lectin domain family 3, member A 97 C-type lectin. skeletal system development extracellular region sugar binding NS(1)|endometrium(2)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(2) 18 ACTGCATTTCCAAAGGAGGAA 0.478000 14 57 0 0 1 0 0 ASB16 92591 broad.mit.edu 37 17 42248167 42248167 + Missense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr17:42248167G>A ENST00000293414.1 + 1 94 c.10G>A c.(10-12)Gag>Aag p.E4K NM_080863.4 NP_543139.4 Q96NS5 ASB16_HUMAN ankyrin repeat and SOCS box containing 16 4 intracellular signal transduction protein binding central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|liver(2)|lung(2)|prostate(1) 14 Breast(137;0.00765)|Prostate(33;0.0313) BRCA - Breast invasive adenocarcinoma(366;0.114) CATGGCAAGAGAGACCTTCCC 0.682000 39 80 0 0 1 0 0 FRK 2444 broad.mit.edu 37 6 116264184 116264184 + Splice_Site SNP A A C TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr6:116264184A>C ENST00000606080.1 - 7 1751 c.1306_splice c.e7+1 p.S435_splice FRK_ENST00000538210.1_Splice_Site_p.S293_splice NM_002031.2 NP_002022.1 P42685 FRK_HUMAN fyn-related kinase 435 Protein kinase. negative regulation of cell proliferation cytoplasm|nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1) 27 all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465) all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625) ATTACTCACCACTGTAAGGCA 0.393000 14 18 0 0 1 0 0 CIT 11113 broad.mit.edu 37 12 120151077 120151077 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr12:120151077C>T ENST00000392521.2 - 35 4565 c.4510G>A c.(4510-4512)Ggc>Agc p.G1504S CIT_ENST00000537607.1_5'UTR|CIT_ENST00000261833.7_Missense_Mutation_p.G1462S NM_001206999.1 NP_001193928.1 O14578 CTRO_HUMAN citron (rho-interacting, serine/threonine kinase 21) 1462 PH. intracellular signal transduction ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 86 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) Myeloproliferative disorder(1001;0.0255) BRCA - Breast invasive adenocarcinoma(302;0.211) CTGTCCCAGCCTTGCTGTCCT 0.448000 56 185 0 0 1 0 0 SLC9A7 84679 broad.mit.edu 37 X 46466593 46466593 + Missense_Mutation SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chrX:46466593C>T ENST00000328306.4 - 17 1997 c.1972G>A c.(1972-1974)Gaa>Aaa p.E658K SLC9A7_ENST00000464933.1_5'UTR NM_001257291.1|NM_032591.2 NP_001244220.1|NP_115980.1 Q96T83 SL9A7_HUMAN solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7 658 regulation of pH Golgi membrane|integral to membrane|recycling endosome membrane|trans-Golgi network potassium:hydrogen antiporter activity|protein homodimerization activity|sodium:hydrogen antiporter activity breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1) 21 AGGTCGCCTTCGGTCAGGATG 0.517000 14 36 0 0 1 0 0 NDST4 64579 broad.mit.edu 37 4 115998159 115998159 + Nonsense_Mutation SNP G G A TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr4:115998159G>A ENST00000264363.2 - 2 712 c.34C>T c.(34-36)Cga>Tga p.R12* NM_022569.1 NP_072091.1 Q9H3R1 NDST4_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 12 R -> Q (in dbSNP:rs35181627). Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000562) ATCAATGTTCGAAAACTTCTC 0.343000 16 10 0 0 1 0 0 TMCC1 23023 broad.mit.edu 37 3 129370639 129370639 + Splice_Site SNP C C T TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr3:129370639C>T ENST00000393238.3 - 6 1988 c.e6-1 TMCC1_ENST00000329333.5_Splice_Site|TMCC1_ENST00000432054.2_Splice_Site|TMCC1_ENST00000426664.2_Splice_Site NM_001017395.3 NP_001017395.2 O94876 TMCC1_HUMAN transmembrane and coiled-coil domain family 1 integral to membrane PLXND1/TMCC1(4) breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1) 25 CCAGGGCCTCCTGTGGGCCAG 0.582000 15 32 0 0 1 0 0 KIF1B 23095 broad.mit.edu 37 1 10364378 10364379 + Frame_Shift_Ins INS - - C TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:10364378_10364379insC ENST00000377093.4 + 21 3288_3289 c.3135_3136insC c.(3133-3138)ccaactfs p.T1046fs KIF1B_ENST00000377086.1_Intron|KIF1B_ENST00000263934.6_Intron|KIF1B_ENST00000377081.1_Intron|KIF1B_ENST00000377083.1_Frame_Shift_Ins_p.T1046fs NM_183416.3 NP_904325.2 O60333 KIF1B_HUMAN kinesin family member 1B 639 anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2) 71 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.2e-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;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642) AACAGCCACCTCAACTACGTTG 0.485 80 144 --- --- --- --- STPG1 90529 broad.mit.edu 37 1 24706253 24706253 + Frame_Shift_Del DEL A A - TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr1:24706253delA ENST00000374409.1 - 5 606 c.352delT c.(352-354)cgfs p.S118fs STPG1_ENST00000003583.8_Frame_Shift_Del_p.S71fs|STPG1_ENST00000468303.1_5'UTR|STPG1_ENST00000440416.1_Frame_Shift_Del_p.S71fs|STPG1_ENST00000337248.4_Frame_Shift_Del_p.S118fs NM_001199012.1 NP_001185941.1 sperm-tail PG-rich repeat containing 1 ATAAAATCCGATGGGATAGTG 0.423 40 62 --- --- --- --- LOC285692 285692 broad.mit.edu 37 5 9821412 9821414 + RNA DEL CAC CAC - TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr5:9821412_9821414delCAC ENST00000511616.1 - 0 521 NR_027112.2 gactcaagcacaccaccaccACC 0.483 2 4 --- --- --- --- TRAV9-2 28677 broad.mit.edu 37 14 22409540 22409541 + RNA INS - - C TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chr14:22409540_22409541insC ENST00000390441.2 + 0 102 tctctctctctTTTTTTTTTTC 0.426 5 11 --- --- --- --- FAM9C 171484 broad.mit.edu 37 X 13061230 13061253 + Splice_Site DEL GGACTTAAACACTTTACCCCGTGT GGACTTAAACACTTTACCCCGTGT - TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chrX:13061230_13061253delGGACTTAAACACTTTACCCCGTGT ENST00000542843.1 - 3 386_393 c.182_splice c.e3+1 p.59_splice FAM9C_ENST00000333995.3_Splice_Site_p.59_splice|FAM9C_ENST00000380625.3_Splice_Site_p.59_splice Q8IZT9 FAM9C_HUMAN family with sequence similarity 9, member C 59 nucleus NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(1) 5 CAGGCAAAAGGGACTTAAACACTTTACCCCGTGTGTTCATCTGT 0.411 11 173 --- --- --- --- HUWE1 10075 broad.mit.edu 37 X 53576039 53576040 + Frame_Shift_Ins INS - - ACGC TCGA-EB-A3Y6-01A-21D-A23B-08 TCGA-EB-A3Y6-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7873013f-3c2d-4f26-a001-c52edfc812cc ed8e4d8c-0f58-48c7-818c-70854f7808f1 g.chrX:53576039_53576040insACGC ENST00000342160.3 - 66 10372_10373 c.9915_9916insGCGT c.(9913-9918)cgcaggfs p.-3306fs HUWE1_ENST00000262854.6_Frame_Shift_Ins_p.-3306fs Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 153 CGCCCCCCTGAACGCTGGATCT 0.525 18 77 --- --- --- ---