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 TJAP1 93643 broad.mit.edu 37 6 43471425 43471425 + Missense_Mutation SNP G G A TCGA-CQ-5329-01A-01D-1683-08 TCGA-CQ-5329-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa9b6fc-4169-4346-98fb-4c711d08d701 fc065f6a-8d73-4f13-9be4-076b7b6ffe71 g.chr6:43471425G>A ENST00000372444.2 + 10 963 c.530G>A c.(529-531)cGa>cAa p.R177Q TJAP1_ENST00000372452.1_Missense_Mutation_p.R177Q|TJAP1_ENST00000372445.5_Missense_Mutation_p.R187Q|TJAP1_ENST00000372449.1_Missense_Mutation_p.R187Q|TJAP1_ENST00000438588.2_Missense_Mutation_p.R187Q|TJAP1_ENST00000436109.2_Missense_Mutation_p.R177Q|TJAP1_ENST00000259751.1_Missense_Mutation_p.R177Q|TJAP1_ENST00000483640.1_3'UTR NM_001146018.1 NP_001139490.1 Q5JTD0 TJAP1_HUMAN tight junction associated protein 1 (peripheral) 187 Golgi apparatus|tight junction protein binding cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|urinary_tract(2) 21 all_lung(25;0.00536) Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0122)|OV - Ovarian serous cystadenocarcinoma(102;0.0804) TCCCACTTCCGAAACCACAAG 0.562000 8 36 0 0 0.047766 0 0 SERPINF1 5176 broad.mit.edu 37 17 1675210 1675210 + Missense_Mutation SNP T T C TCGA-CQ-5329-01A-01D-1683-08 TCGA-CQ-5329-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa9b6fc-4169-4346-98fb-4c711d08d701 fc065f6a-8d73-4f13-9be4-076b7b6ffe71 g.chr17:1675210T>C ENST00000254722.4 + 5 647 c.484T>C c.(484-486)Tat>Cat p.Y162H SERPINF1_ENST00000571870.1_3'UTR NM_002615.5 NP_002606.3 P36955 PEDF_HUMAN serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1 162 cell proliferation|negative regulation of angiogenesis|positive regulation of neurogenesis|regulation of proteolysis extracellular space|melanosome serine-type endopeptidase inhibitor activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 16 GGAAAAGTCATATGGGACCAG 0.567000 7 33 0 0 0.029380 0 0 GUCY2D 3000 broad.mit.edu 37 17 7910382 7910382 + Silent SNP G G A TCGA-CQ-5329-01A-01D-1683-08 TCGA-CQ-5329-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa9b6fc-4169-4346-98fb-4c711d08d701 fc065f6a-8d73-4f13-9be4-076b7b6ffe71 g.chr17:7910382G>A ENST00000254854.4 + 5 1533 c.1383G>A c.(1381-1383)ctG>ctA p.L461L NM_000180.3 NP_000171.1 Q02846 GUC2D_HUMAN guanylate cyclase 2D, membrane (retina-specific) 461 intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception integral to plasma membrane|nuclear outer membrane ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity skin(1) 1 Prostate(122;0.157) CTTCAGGACTGGAGCCGGGCC 0.602000 14 59 0 0 0.160694 0 0 TMED8 283578 broad.mit.edu 37 14 77809654 77809654 + Silent SNP C C A rs147229178 TCGA-CQ-5329-01A-01D-1683-08 TCGA-CQ-5329-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa9b6fc-4169-4346-98fb-4c711d08d701 fc065f6a-8d73-4f13-9be4-076b7b6ffe71 g.chr14:77809654C>A ENST00000216468.7 - 5 682 c.627G>T c.(625-627)gcG>gcT p.A209A NM_213601.1 NP_998766.1 Q6PL24 TMED8_HUMAN transmembrane emp24 protein transport domain containing 8 209 GOLD. transport integral to membrane breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4) 15 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0281) AGTCATCGGTCGCAAACTCCC 0.522000 4 122 0.150653 0.168732 0.150653 1 0 SLC35G3 146861 broad.mit.edu 37 17 33520392 33520392 + Missense_Mutation SNP G G C TCGA-CQ-5329-01A-01D-1683-08 TCGA-CQ-5329-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa9b6fc-4169-4346-98fb-4c711d08d701 fc065f6a-8d73-4f13-9be4-076b7b6ffe71 g.chr17:33520392G>C ENST00000297307.5 - 1 1020 c.935C>G c.(934-936)gCg>gGg p.A312G NM_152462.2 NP_689675.1 Q8N808 AMAC1_HUMAN solute carrier family 35, member G3 312 DUF6 2. integral to membrane p.A312G(4) AACCCCTGCCGCCACGATGTC 0.567000 4 92 0 0 0.029380 0 0 ATP2A3 489 broad.mit.edu 37 17 3850835 3850835 + Silent SNP G G A TCGA-CQ-5329-01A-01D-1683-08 TCGA-CQ-5329-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa9b6fc-4169-4346-98fb-4c711d08d701 fc065f6a-8d73-4f13-9be4-076b7b6ffe71 g.chr17:3850835G>A ENST00000309890.7 - 8 1095 c.945C>T c.(943-945)atC>atT p.I315I ATP2A3_ENST00000352011.3_Silent_p.I315I|ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000397041.3_Silent_p.I315I|ATP2A3_ENST00000397035.3_Silent_p.I315I|ATP2A3_ENST00000359983.3_Silent_p.I315I|ATP2A3_ENST00000397043.3_Silent_p.I315I NM_174953.2|NM_174954.2|NM_174955.2|NM_174956.2 NP_777613.1|NP_777614.1|NP_777615.1|NP_777616.1 Q93084 AT2A3_HUMAN ATPase, Ca++ transporting, ubiquitous 315 ATP biosynthetic process|platelet activation integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 36 LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766) GGCATGTAGTGATGACAGCCG 0.682000 53 28 0 0 0.139131 0 0 GSAP 54103 broad.mit.edu 37 7 76984647 76984647 + Silent SNP C C A TCGA-CQ-5329-01A-01D-1683-08 TCGA-CQ-5329-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa9b6fc-4169-4346-98fb-4c711d08d701 fc065f6a-8d73-4f13-9be4-076b7b6ffe71 g.chr7:76984647C>A ENST00000257626.7 - 16 1299 c.1221G>T c.(1219-1221)ctG>ctT p.L407L NM_017439.3 NP_059135.2 gamma-secretase activating protein ACTGGCTGAGCAGTGCTCTAT 0.473000 21 70 3.10358e-05 3.86223e-05 0.069288 1 0 NOL9 79707 broad.mit.edu 37 1 6609659 6609659 + Missense_Mutation SNP G G A rs144983671 byFrequency TCGA-CQ-5329-01A-01D-1683-08 TCGA-CQ-5329-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa9b6fc-4169-4346-98fb-4c711d08d701 fc065f6a-8d73-4f13-9be4-076b7b6ffe71 g.chr1:6609659G>A ENST00000377705.5 - 3 748 c.716C>T c.(715-717)cCg>cTg p.P239L NM_024654.4 NP_078930.3 Q5SY16 NOL9_HUMAN nucleolar protein 9 239 maturation of 5.8S rRNA nucleolus ATP binding|polynucleotide 5'-hydroxyl-kinase activity|RNA binding central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(2)|urinary_tract(1) 19 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443) Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649) GGATGAACCCGGATAGCTGGT 0.408000 3 58 0 0 0.150653 0 0 SATB2 23314 broad.mit.edu 37 2 200298060 200298060 + Splice_Site SNP C C A TCGA-CQ-5329-01A-01D-1683-08 TCGA-CQ-5329-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa9b6fc-4169-4346-98fb-4c711d08d701 fc065f6a-8d73-4f13-9be4-076b7b6ffe71 g.chr2:200298060C>A ENST00000417098.1 - 3 1163 c.e3+1 SATB2_ENST00000428695.1_Splice_Site|SATB2_ENST00000457245.1_Splice_Site|SATB2_ENST00000260926.5_Splice_Site|SATB2_ENST00000443023.1_Intron NM_001172509.1 NP_001165980.1 Q9UPW6 SATB2_HUMAN SATB homeobox 2 cytoplasm|nuclear matrix sequence-specific DNA binding transcription factor activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 GGCATTAATACCTTGGGCCTG 0.498000 12 27 0.00136819 0.00166563 0.093190 1 0 DVL2 1856 broad.mit.edu 37 17 7132326 7132326 + Silent SNP G G A rs141544993 TCGA-CQ-5329-01A-01D-1683-08 TCGA-CQ-5329-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa9b6fc-4169-4346-98fb-4c711d08d701 fc065f6a-8d73-4f13-9be4-076b7b6ffe71 g.chr17:7132326G>A ENST00000005340.5 - 9 1278 c.996C>T c.(994-996)gaC>gaT p.D332D DVL2_ENST00000575458.1_Silent_p.D326D NM_004422.2 NP_004413.1 O14641 DVL2_HUMAN dishevelled segment polarity protein 2 332 PDZ. canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter cytosol|nucleus|plasma membrane frizzled binding|identical protein binding|signal transducer activity breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1) 25 CCCGCACAGCGTCATCGTTGC 0.547000 46 21 0 0 0.139131 0 0 CCDC38 120935 broad.mit.edu 37 12 96288808 96288808 + Nonsense_Mutation SNP G G T TCGA-CQ-5329-01A-01D-1683-08 TCGA-CQ-5329-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa9b6fc-4169-4346-98fb-4c711d08d701 fc065f6a-8d73-4f13-9be4-076b7b6ffe71 g.chr12:96288808G>T ENST00000344280.3 - 8 1288 c.731C>A c.(730-732)tCa>tAa p.S244* SNRPF_ENST00000552085.1_Intron NM_182496.2 NP_872302.2 Q502W7 CCD38_HUMAN coiled-coil domain containing 38 244 breast(1)|endometrium(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 TTTACTTTTTGATGCCTGTGC 0.343000 46 82 1.61004e-24 2.19908e-24 0.139131 1 0 DOCK7 85440 broad.mit.edu 37 1 63027310 63027310 + Missense_Mutation SNP G G A TCGA-CQ-5329-01A-01D-1683-08 TCGA-CQ-5329-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa9b6fc-4169-4346-98fb-4c711d08d701 fc065f6a-8d73-4f13-9be4-076b7b6ffe71 g.chr1:63027310G>A ENST00000251157.5 - 19 2210 c.2177C>T c.(2176-2178)gCt>gTt p.A726V DOCK7_ENST00000340370.5_Missense_Mutation_p.A726V NM_001271999.1 NP_001258928.1 Q96N67 DOCK7_HUMAN dedicator of cytokinesis 7 726 DHR-1. activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation axon|basal part of cell|growth cone GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 92 AGACGAAACAGCAACAACTTC 0.289000 3 56 0 0 0.115264 0 0 OR4K15 81127 broad.mit.edu 37 14 20444186 20444186 + Missense_Mutation SNP T T C TCGA-CQ-5329-01A-01D-1683-08 TCGA-CQ-5329-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa9b6fc-4169-4346-98fb-4c711d08d701 fc065f6a-8d73-4f13-9be4-076b7b6ffe71 g.chr14:20444186T>C ENST00000305051.5 + 1 584 c.509T>C c.(508-510)cTc>cCc p.L170P NM_001005486.1 NP_001005486.1 Q8NH41 OR4KF_HUMAN olfactory receptor, family 4, subfamily K, member 15 170 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1) 39 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;3.58e-06) GBM - Glioblastoma multiforme(265;0.00327) GTGCTCGTCCTCATTTCATGG 0.448000 3 93 0 0 0.115264 0 0 FNDC1 84624 broad.mit.edu 37 6 159653380 159653380 + Silent SNP G G A TCGA-CQ-5329-01A-01D-1683-08 TCGA-CQ-5329-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa9b6fc-4169-4346-98fb-4c711d08d701 fc065f6a-8d73-4f13-9be4-076b7b6ffe71 g.chr6:159653380G>A ENST00000297267.9 + 11 2036 c.1836G>A c.(1834-1836)gcG>gcA p.A612A FNDC1_ENST00000340366.6_Silent_p.A549A NM_032532.2 NP_115921.2 Q4ZHG4 FNDC1_HUMAN fibronectin type III domain containing 1 612 extracellular region NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3) 93 Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195) OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05) GCCCAGGGGCGCCCCCCTCGG 0.687000 11 28 0 0 0.160694 0 0 NALCN 259232 broad.mit.edu 37 13 101759893 101759893 + Nonsense_Mutation SNP G G A TCGA-CQ-5329-01A-01D-1683-08 TCGA-CQ-5329-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa9b6fc-4169-4346-98fb-4c711d08d701 fc065f6a-8d73-4f13-9be4-076b7b6ffe71 g.chr13:101759893G>A ENST00000251127.6 - 22 2605 c.2524C>T c.(2524-2526)Cga>Tga p.R842* NM_052867.2 NP_443099.1 Q8IZF0 NALCN_HUMAN sodium leak channel, non-selective 842 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) CTGTGTTCTCGCCCGACAATG 0.498000 15 35 0 0 0.132662 0 0 SIDT2 51092 broad.mit.edu 37 11 117054508 117054508 + Missense_Mutation SNP C C T TCGA-CQ-5329-01A-01D-1683-08 TCGA-CQ-5329-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa9b6fc-4169-4346-98fb-4c711d08d701 fc065f6a-8d73-4f13-9be4-076b7b6ffe71 g.chr11:117054508C>T ENST00000324225.4 + 7 1247 c.716C>T c.(715-717)cCc>cTc p.P239L SIDT2_ENST00000530948.1_3'UTR|SIDT2_ENST00000431081.2_Missense_Mutation_p.P239L NM_001040455.1 NP_001035545.1 Q8NBJ9 SIDT2_HUMAN SID1 transmembrane family, member 2 239 integral to membrane|lysosomal membrane NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 36 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144) AAAGACTTCCCCAGCAACAGC 0.473000 12 37 0 0 0.119110 0 0 FAM86DP 692099 broad.mit.edu 37 3 75476630 75476630 + RNA SNP T T G TCGA-CQ-5329-01A-01D-1683-08 TCGA-CQ-5329-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa9b6fc-4169-4346-98fb-4c711d08d701 fc065f6a-8d73-4f13-9be4-076b7b6ffe71 g.chr3:75476630T>G ENST00000459803.1 - 0 726 NR_024241.1 p.V229V(2) GGACCGTCGCTACGTCCCAGT 0.582000 5 34 0 0 0.021553 0 0 KRT85 3891 broad.mit.edu 37 12 52758101 52758101 + Missense_Mutation SNP C C T rs141072357 byFrequency TCGA-CQ-5329-01A-01D-1683-08 TCGA-CQ-5329-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa9b6fc-4169-4346-98fb-4c711d08d701 fc065f6a-8d73-4f13-9be4-076b7b6ffe71 g.chr12:52758101C>T ENST00000257901.3 - 3 754 c.679G>A c.(679-681)Gtt>Att p.V227I KRT85_ENST00000544265.1_Intron NM_002283.3 NP_002274.1 P78386 KRT85_HUMAN keratin 85 227 Coil 1B.|Rod. epidermis development keratin filament protein binding|structural molecule activity NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 36 Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088) BRCA - Breast invasive adenocarcinoma(357;0.189) TTCTTTAGAACGACAAACTCA 0.572000 14 44 0 0 0.175082 0 0 ADCY10 55811 broad.mit.edu 37 1 167868860 167868860 + Missense_Mutation SNP G G A TCGA-CQ-5329-01A-01D-1683-08 TCGA-CQ-5329-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa9b6fc-4169-4346-98fb-4c711d08d701 fc065f6a-8d73-4f13-9be4-076b7b6ffe71 g.chr1:167868860G>A ENST00000367848.1 - 6 664 c.167C>T c.(166-168)gCt>gTt p.A56V ADCY10_ENST00000545172.1_5'UTR|ADCY10_ENST00000367851.4_Missense_Mutation_p.A148V Q96PN6 ADCYA_HUMAN adenylate cyclase 10 (soluble) 148 Guanylate cyclase 1. intracellular signal transduction|spermatogenesis cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction adenylate cyclase activity|ATP binding|magnesium ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1) 63 GTGGCCAGCAGCCAGTCCTGG 0.493000 9 20 0 0 0.047766 0 0 VWF 7450 broad.mit.edu 37 12 6076766 6076766 + Silent SNP G G T TCGA-CQ-5329-01A-01D-1683-08 TCGA-CQ-5329-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa9b6fc-4169-4346-98fb-4c711d08d701 fc065f6a-8d73-4f13-9be4-076b7b6ffe71 g.chr12:6076766G>T ENST00000261405.5 - 47 8027 c.7773C>A c.(7771-7773)ccC>ccA p.P2591P NM_000552.3 NP_000543.2 P04275 VWF_HUMAN von Willebrand factor 2591 VWFC 3. blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5) 129 Antihemophilic Factor(DB00025) CAGTCTTCCCGGGCTGGAAGC 0.622000 4 125 0.014758 0.017584 0.014758 1 0 LPPR1 54886 broad.mit.edu 37 9 104048520 104048520 + Splice_Site SNP T T A TCGA-CQ-5329-01A-01D-1683-08 TCGA-CQ-5329-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa9b6fc-4169-4346-98fb-4c711d08d701 fc065f6a-8d73-4f13-9be4-076b7b6ffe71 g.chr9:104048520T>A ENST00000374874.3 + 4 824 c.e4+2 LPPR1_ENST00000395056.2_Splice_Site NM_207299.1 NP_997182.1 Q8TBJ4 LPPR1_HUMAN integral to membrane catalytic activity GATTCACAGGTGAGTACAAGA 0.373000 13 38 0 0 0.146539 0 0 TP53 7157 broad.mit.edu 37 17 7577120 7577120 + Missense_Mutation SNP C C T rs28934576 by1000genomes TCGA-CQ-5329-01A-01D-1683-08 TCGA-CQ-5329-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa9b6fc-4169-4346-98fb-4c711d08d701 fc065f6a-8d73-4f13-9be4-076b7b6ffe71 g.chr17:7577120C>T ENST00000420246.2 - 8 950 c.818G>A c.(817-819)cGt>cAt p.R273H TP53_ENST00000269305.4_Missense_Mutation_p.R273H|TP53_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R273H NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 273 Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity). R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GGCACAAACACGCACCTCAAA 0.542000 R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM) 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 13 16 0 0 0.160694 0 0 ITFG3 83986 broad.mit.edu 37 16 312195 312195 + Missense_Mutation SNP C C A TCGA-CQ-5329-01A-01D-1683-08 TCGA-CQ-5329-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa9b6fc-4169-4346-98fb-4c711d08d701 fc065f6a-8d73-4f13-9be4-076b7b6ffe71 g.chr16:312195C>A ENST00000399932.3 + 7 1263 c.812C>A c.(811-813)aCa>aAa p.T271K ITFG3_ENST00000600536.1_Missense_Mutation_p.T271K|ITFG3_ENST00000301678.3_Missense_Mutation_p.T271K|ITFG3_ENST00000301679.2_Missense_Mutation_p.T271K|ITFG3_ENST00000442458.2_Missense_Mutation_p.T271K|ITFG3_ENST00000450082.2_Missense_Mutation_p.T271K Q9H0X4 ITFG3_HUMAN integrin alpha FG-GAP repeat containing 3 271 integral to membrane central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 16 all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13) GTCACCAGGACAGGTGCCCAC 0.622000 3 26 1.024e-07 1.30327e-07 0.014758 1 0 PRSS1 5644 broad.mit.edu 37 7 142459656 142459656 + Missense_Mutation SNP A A G TCGA-CQ-5329-01A-01D-1683-08 TCGA-CQ-5329-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa9b6fc-4169-4346-98fb-4c711d08d701 fc065f6a-8d73-4f13-9be4-076b7b6ffe71 g.chr7:142459656A>G ENST00000486171.1 + 4 291 c.274A>G c.(274-276)Atc>Gtc p.I92V PRSS1_ENST00000311737.7_Missense_Mutation_p.I78V P07477 TRY1_HUMAN protease, serine, 1 (trypsin 1) 78 Peptidase S1. digestion|proteolysis extracellular space metal ion binding|protein binding|serine-type endopeptidase activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2) 38 Melanoma(164;0.047) all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165) all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189) AGAGCACAACATCGAAGTCCT 0.552000 7 132 0 0 0.029380 0 0 FILIP1 27145 broad.mit.edu 37 6 76023395 76023395 + Missense_Mutation SNP C C T TCGA-CQ-5329-01A-01D-1683-08 TCGA-CQ-5329-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa9b6fc-4169-4346-98fb-4c711d08d701 fc065f6a-8d73-4f13-9be4-076b7b6ffe71 g.chr6:76023395C>T ENST00000393004.2 - 5 2374 c.2153G>A c.(2152-2154)cGa>cAa p.R718Q FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000370020.1_Missense_Mutation_p.R619Q|FILIP1_ENST00000237172.7_Missense_Mutation_p.R718Q Q7Z7B0 FLIP1_HUMAN filamin A interacting protein 1 718 breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4) 80 TTTTAAGTCTCGACTTTTAGC 0.403000 36 77 0 0 0.064281 0 0 NEDD4 4734 broad.mit.edu 37 15 56142797 56142797 + Silent SNP C C T TCGA-CQ-5329-01A-01D-1683-08 TCGA-CQ-5329-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa9b6fc-4169-4346-98fb-4c711d08d701 fc065f6a-8d73-4f13-9be4-076b7b6ffe71 g.chr15:56142797C>T ENST00000508342.1 - 10 2846 c.2547G>A c.(2545-2547)cgG>cgA p.R849R NEDD4_ENST00000435532.3_Silent_p.R430R|NEDD4_ENST00000506154.1_Silent_p.R833R|NEDD4_ENST00000338963.2_Silent_p.R777R P46934 NEDD4_HUMAN neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase 849 Mediates interaction with TNIK (By similarity).|WW 3. development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113) TTGGTGCATGCCGGACTTCCC 0.453000 4 161 0 0 0.150653 0 0 DCC 1630 broad.mit.edu 37 18 50832067 50832067 + Missense_Mutation SNP C C A TCGA-CQ-5329-01A-01D-1683-08 TCGA-CQ-5329-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa9b6fc-4169-4346-98fb-4c711d08d701 fc065f6a-8d73-4f13-9be4-076b7b6ffe71 g.chr18:50832067C>A ENST00000442544.2 + 13 2647 c.2031C>A c.(2029-2031)aaC>aaA p.N677K DCC_ENST00000581580.1_Missense_Mutation_p.N332K|DCC_ENST00000412726.1_Missense_Mutation_p.N525K NM_005215.3 NP_005206.2 P43146 DCC_HUMAN deleted in colorectal carcinoma 677 Fibronectin type-III 3. apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6) 148 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) TGGAGCCAAACAACCTCTGGT 0.423000 15 49 9.16793e-09 1.19396e-08 0.160694 1 0 FRMD3 257019 broad.mit.edu 37 9 85950554 85950554 + Splice_Site SNP G G A TCGA-CQ-5329-01A-01D-1683-08 TCGA-CQ-5329-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa9b6fc-4169-4346-98fb-4c711d08d701 fc065f6a-8d73-4f13-9be4-076b7b6ffe71 g.chr9:85950554G>A ENST00000304195.3 - 6 679 c.472_splice c.e6-1 p.A158_splice FRMD3_ENST00000376438.1_Splice_Site_p.A158_splice NM_001244960.1|NM_174938.5 NP_001231889.1|NP_777598.3 A2A2Y4 FRMD3_HUMAN FERM domain containing 3 158 FERM. cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane cytoskeletal protein binding breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1) 30 ACCAAGCTCAGCTGTAATGAG 0.413000 10 23 0 0 0.069234 0 0 MICAL2 9645 broad.mit.edu 37 11 12278373 12278373 + Silent SNP C C T TCGA-CQ-5329-01A-01D-1683-08 TCGA-CQ-5329-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa9b6fc-4169-4346-98fb-4c711d08d701 fc065f6a-8d73-4f13-9be4-076b7b6ffe71 g.chr11:12278373C>T ENST00000256194.4 + 24 3285 c.2997C>T c.(2995-2997)agC>agT p.S999S MICAL2_ENST00000342902.5_Silent_p.S978S|MICAL2_ENST00000379612.3_Silent_p.S773S|MICAL2_ENST00000527546.1_Silent_p.S809S|MICAL2_ENST00000537344.1_Silent_p.S809S NM_014632.2 NP_055447.1 O94851 MICA2_HUMAN microtubule associated monooxygenase, calponin and LIM domain containing 2 999 cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 47 Epithelial(150;0.00552) TGGGAGGCAGCGACACGTGTT 0.537000 11 43 0 0 0.069234 0 0 KCNA4 3739 broad.mit.edu 37 11 30032556 30032556 + Missense_Mutation SNP G G A TCGA-CQ-5329-01A-01D-1683-08 TCGA-CQ-5329-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa9b6fc-4169-4346-98fb-4c711d08d701 fc065f6a-8d73-4f13-9be4-076b7b6ffe71 g.chr11:30032556G>A ENST00000328224.6 - 2 2903 c.1670C>T c.(1669-1671)cCa>cTa p.P557L NM_002233.3 NP_002224.1 P22459 KCNA4_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 4 557 voltage-gated potassium channel complex potassium ion binding|protein binding|voltage-gated potassium channel activity central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 78 GACAATCACTGGCACTGGCAA 0.498000 25 25 0 0 0.083992 0 0 NYAP2 57624 broad.mit.edu 37 2 226447697 226447697 + Missense_Mutation SNP C C T TCGA-CQ-5329-01A-01D-1683-08 TCGA-CQ-5329-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa9b6fc-4169-4346-98fb-4c711d08d701 fc065f6a-8d73-4f13-9be4-076b7b6ffe71 g.chr2:226447697C>T ENST00000272907.6 + 4 1977 c.1564C>T c.(1564-1566)Cgc>Tgc p.R522C NYAP2_ENST00000409269.2_Intron NM_020864.1 NP_065915.1 Q9P242 K1486_HUMAN neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 522 p.R522C(1) CTCCTCCGGCCGCAGCCTGCT 0.701000 6 10 0 0 0.029380 0 0 KCNK17 89822 broad.mit.edu 37 6 39271892 39271892 + Missense_Mutation SNP G G A TCGA-CQ-5329-01A-01D-1683-08 TCGA-CQ-5329-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa9b6fc-4169-4346-98fb-4c711d08d701 fc065f6a-8d73-4f13-9be4-076b7b6ffe71 g.chr6:39271892G>A ENST00000453413.2 - 4 669 c.529C>T c.(529-531)Cgg>Tgg p.R177W KCNK17_ENST00000373231.4_Missense_Mutation_p.R177W NM_001135111.1 NP_001128583.1 Q96T54 KCNKH_HUMAN potassium channel, subfamily K, member 17 177 integral to membrane potassium channel activity|voltage-gated ion channel activity endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2) 14 GCCAGCCACCGCGCCTTGTCA 0.672000 8 32 0 0 0.105934 0 0 PDHA2 5161 broad.mit.edu 37 4 96761394 96761394 + Silent SNP C C T rs143281239 TCGA-CQ-5329-01A-01D-1683-08 TCGA-CQ-5329-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa9b6fc-4169-4346-98fb-4c711d08d701 fc065f6a-8d73-4f13-9be4-076b7b6ffe71 g.chr4:96761394C>T ENST00000295266.4 + 1 156 c.93C>T c.(91-93)gaC>gaT p.D31D NM_005390.4 NP_005381.1 P29803 ODPAT_HUMAN pyruvate dehydrogenase (lipoamide) alpha 2 31 glycolysis mitochondrial matrix pyruvate dehydrogenase (acetyl-transferring) activity p.D31E(1) NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 46 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;1.23e-06) NADH(DB00157) CCTCAAATGACGCTACATTTG 0.502000 4 21 0 0 0.150653 0 0 OR52N1 79473 broad.mit.edu 37 11 5809766 5809766 + Missense_Mutation SNP A A G TCGA-CQ-5329-01A-01D-1683-08 TCGA-CQ-5329-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa9b6fc-4169-4346-98fb-4c711d08d701 fc065f6a-8d73-4f13-9be4-076b7b6ffe71 g.chr11:5809766A>G ENST00000317078.1 - 1 280 c.281T>C c.(280-282)aTt>aCt p.I94T TRIM5_ENST00000380027.1_Intron NM_001001913.1 NP_001001913.1 Q8NH53 O52N1_HUMAN olfactory receptor, family 52, subfamily N, member 1 94 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3) 31 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195) TTTAAAATCAATCTCCTTGAG 0.502000 24 95 0 0 0.083992 0 0 NOTCH1 4851 broad.mit.edu 37 9 139393579 139393579 + Missense_Mutation SNP C C T TCGA-CQ-5329-01A-01D-1683-08 TCGA-CQ-5329-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa9b6fc-4169-4346-98fb-4c711d08d701 fc065f6a-8d73-4f13-9be4-076b7b6ffe71 g.chr9:139393579C>T ENST00000277541.6 - 32 6142 c.6067G>A c.(6067-6069)Gcc>Acc p.A2023T NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 2023 aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) TCATCTACGGCGTTGACGTCG 0.682000 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 44 33 0 0 0.139131 0 0 DENND2A 27147 broad.mit.edu 37 7 140301371 140301371 + Missense_Mutation SNP G G A TCGA-CQ-5329-01A-01D-1683-08 TCGA-CQ-5329-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa9b6fc-4169-4346-98fb-4c711d08d701 fc065f6a-8d73-4f13-9be4-076b7b6ffe71 g.chr7:140301371G>A ENST00000275884.6 - 2 1244 c.827C>T c.(826-828)gCc>gTc p.A276V DENND2A_ENST00000496613.1_Missense_Mutation_p.A276V|DENND2A_ENST00000492720.1_Missense_Mutation_p.A276V|DENND2A_ENST00000537639.1_Missense_Mutation_p.A276V Q9ULE3 DEN2A_HUMAN DENN/MADD domain containing 2A 276 breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Melanoma(164;0.00956) CCCTTCTCCGGCATGTTTGAA 0.582000 4 185 0 0 0.150653 0 0 ZNF512 84450 broad.mit.edu 37 2 27822848 27822848 + Missense_Mutation SNP C C T TCGA-CQ-5329-01A-01D-1683-08 TCGA-CQ-5329-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa9b6fc-4169-4346-98fb-4c711d08d701 fc065f6a-8d73-4f13-9be4-076b7b6ffe71 g.chr2:27822848C>T ENST00000355467.4 + 5 468 c.385C>T c.(385-387)Cgg>Tgg p.R129W ZNF512_ENST00000416005.2_Intron|ZNF512_ENST00000556601.1_Silent_p.N39N|ZNF512_ENST00000379717.1_Missense_Mutation_p.R128W|ZNF512_ENST00000413371.2_Missense_Mutation_p.R52W|ZNF512_ENST00000494548.1_3'UTR|RP11-158I13.2_ENST00000505973.1_RNA Q96ME7 ZN512_HUMAN zinc finger protein 512 129 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 Acute lymphoblastic leukemia(172;0.155) GAGGAAGCAACGGCCTAAAAC 0.478000 15 15 0 0 0.160694 0 0 IGLV10-54 28772 broad.mit.edu 37 22 22569614 22569614 + RNA SNP C C A TCGA-CQ-5329-01A-01D-1683-08 TCGA-CQ-5329-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa9b6fc-4169-4346-98fb-4c711d08d701 fc065f6a-8d73-4f13-9be4-076b7b6ffe71 g.chr22:22569614C>A ENST00000390287.2 + 0 319 AGCCTGAGGACGAGGCTGACT 0.542000 3 35 0.115264 0.134475 0.115264 1 0 PCDHGA5 56110 broad.mit.edu 37 5 140745185 140745185 + Missense_Mutation SNP C C A TCGA-CQ-5329-01A-01D-1683-08 TCGA-CQ-5329-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa9b6fc-4169-4346-98fb-4c711d08d701 fc065f6a-8d73-4f13-9be4-076b7b6ffe71 g.chr5:140745185C>A ENST00000518069.1 + 1 1288 c.1288C>A c.(1288-1290)Ccg>Acg p.P430T PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron NM_018918.2|NM_032054.1 NP_061741.1|NP_114443.1 endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3) 18 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCATGGAACCCCGCCCCTCTC 0.458000 25 62 6.32553e-13 8.43404e-13 0.099896 1 0 OR3A2 4995 broad.mit.edu 37 17 3181737 3181737 + Missense_Mutation SNP C C T TCGA-CQ-5329-01A-01D-1683-08 TCGA-CQ-5329-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa9b6fc-4169-4346-98fb-4c711d08d701 fc065f6a-8d73-4f13-9be4-076b7b6ffe71 g.chr17:3181737C>T ENST00000408891.2 - 1 531 c.493G>A c.(493-495)Gca>Aca p.A165T NM_002551.3 NP_002542.3 P47893 OR3A2_HUMAN olfactory receptor, family 3, subfamily A, member 2 165 sensory perception of smell integral to plasma membrane olfactory receptor activity ovary(1) 1 TGGGTCAGTGCGTTGGTGAAG 0.582000 21 89 0 0 0.091800 0 0 SLC35G3 146861 broad.mit.edu 37 17 33520358 33520358 + Silent SNP A A G rs74740601 by1000genomes TCGA-CQ-5329-01A-01D-1683-08 TCGA-CQ-5329-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa9b6fc-4169-4346-98fb-4c711d08d701 fc065f6a-8d73-4f13-9be4-076b7b6ffe71 g.chr17:33520358A>G ENST00000297307.5 - 1 1054 c.969T>C c.(967-969)atT>atC p.I323I NM_152462.2 NP_689675.1 Q8N808 AMAC1_HUMAN solute carrier family 35, member G3 323 DUF6 2. integral to membrane p.I323I(1) TCTGGGCTGTAATGATGGCAA 0.547000 4 64 0 0 0.038147 0 0 EMR1 2015 broad.mit.edu 37 19 6908712 6908712 + Missense_Mutation SNP G G A TCGA-CQ-5329-01A-01D-1683-08 TCGA-CQ-5329-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa9b6fc-4169-4346-98fb-4c711d08d701 fc065f6a-8d73-4f13-9be4-076b7b6ffe71 g.chr19:6908712G>A ENST00000312053.4 + 10 1088 c.1051G>A c.(1051-1053)Gca>Aca p.A351T EMR1_ENST00000450315.3_Missense_Mutation_p.A174T|EMR1_ENST00000381407.5_Missense_Mutation_p.A210T|EMR1_ENST00000250572.8_Missense_Mutation_p.A351T|EMR1_ENST00000381404.4_Missense_Mutation_p.A299T NM_001974.4 NP_001965.3 Q14246 EMR1_HUMAN egf-like module containing, mucin-like, hormone receptor-like 1 351 Ser/Thr-rich. cell adhesion|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8) 62 all_hematologic(4;0.166) CTCCTTTTGTGCACAAATAAA 0.368000 15 42 0 0 0.119110 0 0 ADAM12 8038 broad.mit.edu 37 10 127724762 127724762 + Missense_Mutation SNP C C T TCGA-CQ-5329-01A-01D-1683-08 TCGA-CQ-5329-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa9b6fc-4169-4346-98fb-4c711d08d701 fc065f6a-8d73-4f13-9be4-076b7b6ffe71 g.chr10:127724762C>T ENST00000368679.4 - 21 2800 c.2491G>A c.(2491-2493)Gtc>Atc p.V831I NM_003474.4 NP_003465.3 O43184 ADA12_HUMAN ADAM metallopeptidase domain 12 831 cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22) COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216) CTGGCAGGGACGCTAGGTGCA 0.562000 4 43 0 0 0.150653 0 0 MAGEF1 64110 broad.mit.edu 37 3 184428979 184428983 + Frame_Shift_Del DEL TCGGA TCGGA - TCGA-CQ-5329-01A-01D-1683-08 TCGA-CQ-5329-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa9b6fc-4169-4346-98fb-4c711d08d701 fc065f6a-8d73-4f13-9be4-076b7b6ffe71 g.chr3:184428979_184428983delTCGGA ENST00000317897.3 - 1 853_857 c.627_631delTCCGA c.(625-633)taagfs p.YPK209fs NM_022149.4 NP_071432.2 Q9HAY2 MAGF1_HUMAN melanoma antigen family F, 1 209 MAGE. breast(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|urinary_tract(1) 11 all_cancers(143;4.61e-11)|Ovarian(172;0.0339)|Breast(254;0.247) Epithelial(37;5.64e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.56e-22) ATAAGCCTCTTCGGATACCCAAAGA 0.507 31 59 --- --- --- --- C9orf43 257169 broad.mit.edu 37 9 116187646 116187648 + In_Frame_Del DEL GCA GCA - TCGA-CQ-5329-01A-01D-1683-08 TCGA-CQ-5329-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa9b6fc-4169-4346-98fb-4c711d08d701 fc065f6a-8d73-4f13-9be4-076b7b6ffe71 g.chr9:116187646_116187648delGCA ENST00000288462.4 + 10 1334_1336 c.888_890delGCA c.(886-891)cgg>cg p.RQ296del C9orf43_ENST00000374165.1_In_Frame_Del_p.RQ296del NM_152786.1 NP_689999.1 Q8TAL5 CI043_HUMAN chromosome 9 open reading frame 43 296 Gln-rich. breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3) 15 agcagcagcggcagcagcagcag 0.557 7 63 --- --- --- --- KRTAP5-5 439915 broad.mit.edu 37 11 1651199 1651228 + In_Frame_Del DEL AGGCTGTGGGGGCTGTGGCTCCGGCTGTGC AGGCTGTGGGGGCTGTGGCTCCGGCTGTGC - rs35089393 by1000genomes TCGA-CQ-5329-01A-01D-1683-08 TCGA-CQ-5329-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa9b6fc-4169-4346-98fb-4c711d08d701 fc065f6a-8d73-4f13-9be4-076b7b6ffe71 g.chr11:1651199_1651228delAGGCTGTGGGGGCTGTGGCTCCGGCTGTGC ENST00000399676.2 + 1 167_196 c.129_158delAGGCTGTGGGGGCTGTGGCTCCGGCTGTGC c.(127-159)ggg>gg p.GGCGGCGSGCA43del NM_001001480.2 NP_001001480.2 Q701N2 KRA55_HUMAN keratin associated protein 5-5 43 G -> GGCGS (in Ref. 1; BAD20201 and 2; CAF31639). keratin filament endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1) 33 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;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) ccggctgtggaggctgtgggggctgtggctccggctgtgcgggctgtggg 0.691 28 9 --- --- --- --- SORL1 6653 broad.mit.edu 37 11 121445040 121445050 + Frame_Shift_Del DEL ACTGTGGAGAC ACTGTGGAGAC - TCGA-CQ-5329-01A-01D-1683-08 TCGA-CQ-5329-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa9b6fc-4169-4346-98fb-4c711d08d701 fc065f6a-8d73-4f13-9be4-076b7b6ffe71 g.chr11:121445040_121445050delACTGTGGAGAC ENST00000260197.7 + 24 3557_3567 c.3428_3438delACTGTGGAGAC c.(3427-3438)gfs p.DCGD1143fs SORL1_ENST00000525532.1_Frame_Shift_Del_p.DCGD87fs NM_003105.5 NP_003096.1 Q92673 SORL_HUMAN sortilin-related receptor, L(DLR class) A repeats containing 1143 LDL-receptor class A 2. cholesterol metabolic process|lipid transport|receptor-mediated endocytosis integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|transmembrane receptor activity NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2) 91 Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113) BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108) CTTGAGGATGACTGTGGAGACAACAGTGATG 0.512 8 99 --- --- --- --- IGHV3-21 28444 broad.mit.edu 37 14 106691797 106691799 + RNA DEL TAA TAA - TCGA-CQ-5329-01A-01D-1683-08 TCGA-CQ-5329-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa9b6fc-4169-4346-98fb-4c711d08d701 fc065f6a-8d73-4f13-9be4-076b7b6ffe71 g.chr14:106691797_106691799delTAA ENST00000390607.2 - 0 303_305 GTAGTATATGTAACTACTACTAC 0.517 17 270 --- --- --- --- UBE2Q2P1 388165 broad.mit.edu 37 15 85077360 85077360 + RNA DEL A A - TCGA-CQ-5329-01A-01D-1683-08 TCGA-CQ-5329-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5aa9b6fc-4169-4346-98fb-4c711d08d701 fc065f6a-8d73-4f13-9be4-076b7b6ffe71 g.chr15:85077360delA ENST00000339094.1 - 0 1678 NR_003661.2 tttttaaactaaaaaaaaaaa 0.373 4 6 --- --- --- ---