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 PPP1R3A 5506 broad.mit.edu 37 7 113519011 113519011 + Silent SNP T T C TCGA-HC-A8D0-01A-11D-A364-08 TCGA-HC-A8D0-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d04bc84-6f8d-4ff3-8044-44e342859531 15291a8d-12a8-4092-914c-995dbb9b607b g.chr7:113519011T>C ENST00000284601.3 - 4 2204 c.2136A>G c.(2134-2136)gaA>gaG p.E712E NM_002711.3 NP_002702.2 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory subunit 3A 712 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 GAGAAGACAGTTCACAGCACA 0.403000 24 156 0 0 1 0 0 MRGPRX1 259249 broad.mit.edu 37 11 18956230 18956230 + Silent SNP C C T rs144203919 byFrequency TCGA-HC-A8D0-01A-11D-A364-08 TCGA-HC-A8D0-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d04bc84-6f8d-4ff3-8044-44e342859531 15291a8d-12a8-4092-914c-995dbb9b607b g.chr11:18956230C>T ENST00000302797.3 - 1 326 c.102G>A c.(100-102)acG>acA p.T34T MRGPRX1_ENST00000526914.1_5'UTR NM_147199.3 NP_671732.3 Q96LB2 MRGX1_HUMAN MAS-related GPR, member X1 34 acute-phase response integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 AAACGATGCACGTCAGCACCG 0.547000 27 174 0 0 1 0 0 TTLL2 83887 broad.mit.edu 37 6 167754428 167754428 + Missense_Mutation SNP G G A TCGA-HC-A8D0-01A-11D-A364-08 TCGA-HC-A8D0-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d04bc84-6f8d-4ff3-8044-44e342859531 15291a8d-12a8-4092-914c-995dbb9b607b g.chr6:167754428G>A ENST00000239587.5 + 3 1128 c.1040G>A c.(1039-1041)cGc>cAc p.R347H NM_031949.4 NP_114155.4 Q9BWV7 TTLL2_HUMAN tubulin tyrosine ligase-like family, member 2 347 TTL. protein modification process ATP binding|tubulin-tyrosine ligase activity central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Breast(66;7.8e-06)|Ovarian(120;0.024) OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492) AAAATCCACCGCATGGTTATT 0.443000 17 195 0 0 1 0 0 PCDHB12 0 broad.mit.edu 37 5 140590067 140590067 + Missense_Mutation SNP C C T TCGA-HC-A8D0-01A-11D-A364-08 TCGA-HC-A8D0-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d04bc84-6f8d-4ff3-8044-44e342859531 15291a8d-12a8-4092-914c-995dbb9b607b g.chr5:140590067C>T ENST00000239450.2 + 1 1777 c.1588C>T c.(1588-1590)Cgc>Tgc p.R530C PCDHB12_ENST00000541609.1_Missense_Mutation_p.R193C NM_018932.3 NP_061755.1 Q9Y5F1 PCDBC_HUMAN 530 Cadherin 5. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding 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) GTTCCAGTTCCGCGTGGGCGC 0.677000 22 59 0 0 1 0 0 HAUS7 55559 broad.mit.edu 37 X 152721738 152721738 + Missense_Mutation SNP G G C TCGA-HC-A8D0-01A-11D-A364-08 TCGA-HC-A8D0-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d04bc84-6f8d-4ff3-8044-44e342859531 15291a8d-12a8-4092-914c-995dbb9b607b g.chrX:152721738G>C ENST00000421080.2 - 9 1469 c.303C>G c.(301-303)caC>caG p.H101Q TREX2_ENST00000370232.1_5'UTR|HAUS7_ENST00000370212.3_Missense_Mutation_p.H240Q|HAUS7_ENST00000370211.4_Missense_Mutation_p.H230Q|HAUS7_ENST00000370219.3_Missense_Mutation_p.H240Q|TREX2_ENST00000338525.2_5'UTR|TREX2_ENST00000330912.2_5'UTR|HAUS7_ENST00000484394.1_5'UTR|TREX2_ENST00000334497.2_5'UTR Q99871 HAUS7_HUMAN HAUS augmin-like complex, subunit 7 240 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|nucleolus|plasma membrane|spindle thioesterase binding endometrium(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3) 19 TTCTAAGCGCGTGCAACTTGG 0.632000 9 26 0 0 1 0 0 PEX5L 51555 broad.mit.edu 37 3 179529651 179529651 + Missense_Mutation SNP C C A TCGA-HC-A8D0-01A-11D-A364-08 TCGA-HC-A8D0-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d04bc84-6f8d-4ff3-8044-44e342859531 15291a8d-12a8-4092-914c-995dbb9b607b g.chr3:179529651C>A ENST00000467460.1 - 11 1422 c.1092G>T c.(1090-1092)caG>caT p.Q364H PEX5L_ENST00000485199.1_Missense_Mutation_p.Q329H|PEX5L_ENST00000472994.1_Missense_Mutation_p.Q305H|PEX5L_ENST00000476138.1_Missense_Mutation_p.Q321H|PEX5L_ENST00000468741.1_Missense_Mutation_p.Q172H|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000465751.1_Missense_Mutation_p.Q340H|PEX5L_ENST00000464614.1_Missense_Mutation_p.Q256H|PEX5L_ENST00000392649.3_Missense_Mutation_p.Q256H|PEX5L_ENST00000263962.8_Missense_Mutation_p.Q362H NM_001256751.1|NM_016559.2 NP_001243680.1|NP_057643.1 Q8IYB4 PEX5R_HUMAN peroxisomal biogenesis factor 5-like 364 protein import into peroxisome matrix|regulation of cAMP-mediated signaling cytosol|peroxisomal membrane peroxisome matrix targeting signal-1 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183) OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518) TCCCGAGGAACTGCCATGCCT 0.468000 9 65 1.58986e-06 1.65101e-06 1 1 0 IGSF3 3321 broad.mit.edu 37 1 117150673 117150673 + Silent SNP G G A TCGA-HC-A8D0-01A-11D-A364-08 TCGA-HC-A8D0-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d04bc84-6f8d-4ff3-8044-44e342859531 15291a8d-12a8-4092-914c-995dbb9b607b g.chr1:117150673G>A ENST00000369486.3 - 5 1878 c.1113C>T c.(1111-1113)agC>agT p.S371S IGSF3_ENST00000369483.1_Silent_p.S371S|IGSF3_ENST00000318837.6_Silent_p.S371S NM_001007237.1 NP_001007238.1 O75054 IGSF3_HUMAN immunoglobulin superfamily, member 3 371 Ig-like C2-type 3. integral to membrane NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 62 Lung SC(450;0.225) all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05) Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166) TGTATTTCCCGCTATCTTCCT 0.537000 19 93 0 0 1 0 0 CRIPAK 285464 broad.mit.edu 37 4 1389214 1389214 + Silent SNP C C T rs71299249 TCGA-HC-A8D0-01A-11D-A364-08 TCGA-HC-A8D0-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d04bc84-6f8d-4ff3-8044-44e342859531 15291a8d-12a8-4092-914c-995dbb9b607b g.chr4:1389214C>T ENST00000324803.4 + 1 3875 c.915C>T c.(913-915)tgC>tgT p.C305C NM_175918.3 NP_787114.2 Q8N1N5 CRPAK_HUMAN cysteine-rich PAK1 inhibitor 305 ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus endoplasmic reticulum|nucleus|plasma membrane protein binding NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1) 35 OV - Ovarian serous cystadenocarcinoma(23;0.0106) CTCACACGTGCCGACGTGGAG 0.662000 5 228 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100680623 100680623 + Missense_Mutation SNP C C T TCGA-HC-A8D0-01A-11D-A364-08 TCGA-HC-A8D0-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d04bc84-6f8d-4ff3-8044-44e342859531 15291a8d-12a8-4092-914c-995dbb9b607b g.chr7:100680623C>T ENST00000306151.4 + 3 5990 c.5926C>T c.(5926-5928)Cca>Tca p.P1976S NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 1976 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) TACCAGCATGCCAACCCCAGC 0.498000 6 362 0 0 1 0 0 STK33 65975 broad.mit.edu 37 11 8435222 8435222 + Silent SNP C C T TCGA-HC-A8D0-01A-11D-A364-08 TCGA-HC-A8D0-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d04bc84-6f8d-4ff3-8044-44e342859531 15291a8d-12a8-4092-914c-995dbb9b607b g.chr11:8435222C>T ENST00000447869.1 - 11 2082 c.1164G>A c.(1162-1164)tcG>tcA p.S388S STK33_ENST00000534493.1_Silent_p.S347S|STK33_ENST00000396672.1_Silent_p.S388S|STK33_ENST00000396673.1_Intron|STK33_ENST00000358872.3_Silent_p.S201S|STK33_ENST00000315204.1_Silent_p.S388S|STK33_ENST00000473980.1_5'UTR Q9BYT3 STK33_HUMAN serine/threonine kinase 33 388 Golgi apparatus|nucleus|perinuclear region of cytoplasm ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3) 23 Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239) TTGGTCTCACCGAAGAAAGTT 0.368000 6 58 0 0 1 0 0 OR51L1 119682 broad.mit.edu 37 11 5020428 5020428 + Missense_Mutation SNP C C A TCGA-HC-A8D0-01A-11D-A364-08 TCGA-HC-A8D0-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d04bc84-6f8d-4ff3-8044-44e342859531 15291a8d-12a8-4092-914c-995dbb9b607b g.chr11:5020428C>A ENST00000321543.1 + 1 216 c.216C>A c.(214-216)gaC>gaA p.D72E NM_001004755.1 NP_001004755.1 Q8NGJ5 O51L1_HUMAN olfactory receptor, family 51, subfamily L, member 1 72 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1) 31 Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086) Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) CAGTGAATGACCTGGGGATGT 0.453000 4 148 0.150653 0.153496 1 1 0 CACNA1S 779 broad.mit.edu 37 1 201046206 201046206 + Missense_Mutation SNP G G A TCGA-HC-A8D0-01A-11D-A364-08 TCGA-HC-A8D0-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d04bc84-6f8d-4ff3-8044-44e342859531 15291a8d-12a8-4092-914c-995dbb9b607b g.chr1:201046206G>A ENST00000362061.3 - 12 1895 c.1669C>T c.(1669-1671)Cgc>Tgc p.R557C CACNA1S_ENST00000367338.3_Missense_Mutation_p.R557C NM_000069.2 NP_000060.2 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, alpha 1S subunit 557 axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 102 Magnesium Sulfate(DB00653)|Verapamil(DB00661) GCGATGGAGCGGATGGAGTTG 0.582000 3 47 0 0 1 0 0 KCNH7 90134 broad.mit.edu 37 2 163291772 163291772 + Silent SNP G G A TCGA-HC-A8D0-01A-11D-A364-08 TCGA-HC-A8D0-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d04bc84-6f8d-4ff3-8044-44e342859531 15291a8d-12a8-4092-914c-995dbb9b607b g.chr2:163291772G>A ENST00000332142.5 - 8 1989 c.1890C>T c.(1888-1890)ttC>ttT p.F630F KCNH7_ENST00000328032.4_Silent_p.F623F NM_033272.3 NP_150375.2 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 7 630 regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity p.F630F(1) 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) ACACATTCCCGAATCCTACAC 0.383000 14 65 0 0 1 0 0 BSN 8927 broad.mit.edu 37 3 49698533 49698533 + Silent SNP C C A TCGA-HC-A8D0-01A-11D-A364-08 TCGA-HC-A8D0-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d04bc84-6f8d-4ff3-8044-44e342859531 15291a8d-12a8-4092-914c-995dbb9b607b g.chr3:49698533C>A ENST00000296452.4 + 6 9369 c.9255C>A c.(9253-9255)ggC>ggA p.G3085G NM_003458.3 NP_003449.2 Q9UPA5 BSN_HUMAN bassoon presynaptic cytomatrix protein 3085 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) CCTACCCTGGCCCCAGCACGT 0.652000 3 23 1 1 1 1 0 NR1D1 9572 broad.mit.edu 37 17 38252764 38252764 + Missense_Mutation SNP C C T TCGA-HC-A8D0-01A-11D-A364-08 TCGA-HC-A8D0-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d04bc84-6f8d-4ff3-8044-44e342859531 15291a8d-12a8-4092-914c-995dbb9b607b g.chr17:38252764C>T ENST00000246672.3 - 4 1166 c.536G>A c.(535-537)cGc>cAc p.R179H NM_021724.3 NP_068370.1 P20393 NR1D1_HUMAN nuclear receptor subfamily 1, group D, member 1 179 cellular response to lipopolysaccharide|negative regulation of receptor biosynthetic process|negative regulation of toll-like receptor 4 signaling pathway|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nuclear chromatin|nucleoplasm sequence-specific DNA binding|steroid hormone receptor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding endometrium(1)|large_intestine(5)|lung(2)|skin(1)|upper_aerodigestive_tract(2) 11 Colorectal(19;0.000442) GCGATTGATGCGGACGATGGA 0.552000 3 47 0 0 1 0 0 ADCK2 90956 broad.mit.edu 37 7 140373323 140373323 + Silent SNP C C T TCGA-HC-A8D0-01A-11D-A364-08 TCGA-HC-A8D0-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d04bc84-6f8d-4ff3-8044-44e342859531 15291a8d-12a8-4092-914c-995dbb9b607b g.chr7:140373323C>T ENST00000072869.4 + 1 371 c.193C>T c.(193-195)Ctg>Ttg p.L65L ADCK2_ENST00000476491.1_Silent_p.L65L NM_052853.3 NP_443085.2 Q7Z695 ADCK2_HUMAN aarF domain containing kinase 2 65 integral to membrane ATP binding|protein serine/threonine kinase activity cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4) 15 Melanoma(164;0.00956) CCCTGACGTTCTGAGTCGGCG 0.726000 4 16 0 0 1 0 0 PHF23 79142 broad.mit.edu 37 17 7140074 7140074 + Missense_Mutation SNP G G A TCGA-HC-A8D0-01A-11D-A364-08 TCGA-HC-A8D0-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d04bc84-6f8d-4ff3-8044-44e342859531 15291a8d-12a8-4092-914c-995dbb9b607b g.chr17:7140074G>A ENST00000320316.3 - 4 398 c.172C>T c.(172-174)Cca>Tca p.P58S PHF23_ENST00000570753.1_5'UTR|PHF23_ENST00000571362.1_Intron|PHF23_ENST00000576955.1_5'UTR|PHF23_ENST00000454255.2_Missense_Mutation_p.P54S NM_024297.2 NP_077273.2 Q9BUL5 PHF23_HUMAN PHD finger protein 23 58 zinc ion binding breast(4)|kidney(2)|large_intestine(6)|lung(3) 15 CCAGAGGCTGGCCAGTCACTT 0.567000 3 40 0 0 1 0 0 ITIH4 3700 broad.mit.edu 37 3 52857696 52857696 + Missense_Mutation SNP T T C TCGA-HC-A8D0-01A-11D-A364-08 TCGA-HC-A8D0-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d04bc84-6f8d-4ff3-8044-44e342859531 15291a8d-12a8-4092-914c-995dbb9b607b g.chr3:52857696T>C ENST00000266041.4 - 11 1511 c.1415A>G c.(1414-1416)aAt>aGt p.N472S ITIH4_ENST00000346281.5_Missense_Mutation_p.N472S|ITIH4_ENST00000485816.1_Missense_Mutation_p.N472S|ITIH4_ENST00000434759.3_Missense_Mutation_p.N384S|ITIH4_ENST00000406595.1_Missense_Mutation_p.N472S|ITIH4_ENST00000467462.1_5'UTR NM_002218.4 NP_002209.2 Q14624 ITIH4_HUMAN inter-alpha-trypsin inhibitor heavy chain family, member 4 472 acute-phase response|hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 30 BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496) CTCCACGGCATTGCTTGGGTA 0.582000 11 73 0 0 1 0 0 MPHOSPH9 10198 broad.mit.edu 37 12 123661278 123661278 + Missense_Mutation SNP G G A TCGA-HC-A8D0-01A-11D-A364-08 TCGA-HC-A8D0-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d04bc84-6f8d-4ff3-8044-44e342859531 15291a8d-12a8-4092-914c-995dbb9b607b g.chr12:123661278G>A ENST00000606320.1 - 16 2619 c.2413C>T c.(2413-2415)Ctt>Ttt p.L805F MPHOSPH9_ENST00000302349.5_Missense_Mutation_p.L653F|MPHOSPH9_ENST00000392425.3_Missense_Mutation_p.L653F|MPHOSPH9_ENST00000541076.2_Missense_Mutation_p.L775F Q99550 MPP9_HUMAN M-phase phosphoprotein 9 653 M phase of mitotic cell cycle centriole|Golgi membrane NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1) 33 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169) TTATGACGAAGGCTTAACATA 0.323000 8 66 0 0 1 0 0 RP11-156P1.3 0 broad.mit.edu 37 17 45127107 45127107 + RNA SNP C C G rs147409399 by1000genomes TCGA-HC-A8D0-01A-11D-A364-08 TCGA-HC-A8D0-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d04bc84-6f8d-4ff3-8044-44e342859531 15291a8d-12a8-4092-914c-995dbb9b607b g.chr17:45127107C>G ENST00000575173.1 - 0 418 CCTTCGTTCACCCAAGAGCAT 0.592000 4 74 0 0 1 0 0 FBN3 84467 broad.mit.edu 37 19 8137034 8137034 + Silent SNP C C T rs144060152 byFrequency TCGA-HC-A8D0-01A-11D-A364-08 TCGA-HC-A8D0-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d04bc84-6f8d-4ff3-8044-44e342859531 15291a8d-12a8-4092-914c-995dbb9b607b g.chr19:8137034C>T ENST00000600128.1 - 63 8400 c.7986G>A c.(7984-7986)ccG>ccA p.P2662P FBN3_ENST00000270509.2_Silent_p.P2662P|FBN3_ENST00000601739.1_Silent_p.P2662P Q75N90 FBN3_HUMAN fibrillin 3 2662 proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 132 CCTCTTTGTCCGGGGTGTCCT 0.667000 10 116 0 0 1 0 0 NOMO1 23420 broad.mit.edu 37 16 14972641 14972641 + Missense_Mutation SNP C C G TCGA-HC-A8D0-01A-11D-A364-08 TCGA-HC-A8D0-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d04bc84-6f8d-4ff3-8044-44e342859531 15291a8d-12a8-4092-914c-995dbb9b607b g.chr16:14972641C>G ENST00000287667.7 + 23 2878 c.2707C>G c.(2707-2709)Cgt>Ggt p.R903G NM_014287.3 NP_055102.3 Q15155 NOMO1_HUMAN NODAL modulator 1 903 integral to membrane carbohydrate binding|carboxypeptidase activity|protein binding endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2) 30 TGGCCTGTTTCGTTCCAACCT 0.532000 16 107 0 0 1 0 0 BTNL8 79908 broad.mit.edu 37 5 180377516 180377516 + Missense_Mutation SNP C C T TCGA-HC-A8D0-01A-11D-A364-08 TCGA-HC-A8D0-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d04bc84-6f8d-4ff3-8044-44e342859531 15291a8d-12a8-4092-914c-995dbb9b607b g.chr5:180377516C>T ENST00000340184.4 + 8 1681 c.1475C>T c.(1474-1476)aCg>aTg p.T492M BTNL8_ENST00000533815.2_Missense_Mutation_p.T308M|BTNL8_ENST00000231229.4_3'UTR|BTNL8_ENST00000505126.1_Missense_Mutation_p.T285M|BTNL8_ENST00000400707.3_Missense_Mutation_p.T367M|BTNL8_ENST00000511704.1_Missense_Mutation_p.T376M|BTNL8_ENST00000508408.1_3'UTR NM_001040462.2 NP_001035552.1 Q6UX41 BTNL8_HUMAN butyrophilin-like 8 492 integral to membrane breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 28 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;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CAGGCAACCACGCCCTTCCTC 0.532000 11 37 0 0 1 0 0 OR5A1 219982 broad.mit.edu 37 11 59211157 59211157 + Silent SNP C C T rs150991894 TCGA-HC-A8D0-01A-11D-A364-08 TCGA-HC-A8D0-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d04bc84-6f8d-4ff3-8044-44e342859531 15291a8d-12a8-4092-914c-995dbb9b607b g.chr11:59211157C>T ENST00000302030.2 + 1 541 c.516C>T c.(514-516)tgC>tgT p.C172C NM_001004728.1 NP_001004728.1 Q8NGJ0 OR5A1_HUMAN olfactory receptor, family 5, subfamily A, member 1 172 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.C172C(2) central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1) 28 TTCACTTTTGCGGACCCAACA 0.547000 4 253 0 0 1 0 0 CACNA2D1 781 broad.mit.edu 37 7 81667507 81667507 + Silent SNP G G A TCGA-HC-A8D0-01A-11D-A364-08 TCGA-HC-A8D0-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d04bc84-6f8d-4ff3-8044-44e342859531 15291a8d-12a8-4092-914c-995dbb9b607b g.chr7:81667507G>A ENST00000356860.3 - 11 1262 c.924C>T c.(922-924)gtC>gtT p.V308V CACNA2D1_ENST00000356253.5_Silent_p.V308V NM_000722.2 NP_000713.2 P54289 CA2D1_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 1 308 VWFA. 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) CATTTGCTTGGACAAGGTGCT 0.313000 4 86 0 0 1 0 0 GNAZ 2781 broad.mit.edu 37 22 23437931 23437931 + Missense_Mutation SNP C C G TCGA-HC-A8D0-01A-11D-A364-08 TCGA-HC-A8D0-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d04bc84-6f8d-4ff3-8044-44e342859531 15291a8d-12a8-4092-914c-995dbb9b607b g.chr22:23437931C>G ENST00000248996.4 + 2 715 c.49C>G c.(49-51)Cgg>Ggg p.R17G RTDR1_ENST00000216036.4_Intron NM_002073.2 NP_002064.1 P19086 GNAZ_HUMAN guanine nucleotide binding protein (G protein), alpha z polypeptide 17 endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1) 19 all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181) READ - Rectum adenocarcinoma(21;0.166) CCGGCGGTCCCGGAGAATTGA 0.637000 8 44 0 0 1 0 0 WDR78 79819 broad.mit.edu 37 1 67299306 67299306 + Nonsense_Mutation SNP G G A TCGA-HC-A8D0-01A-11D-A364-08 TCGA-HC-A8D0-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d04bc84-6f8d-4ff3-8044-44e342859531 15291a8d-12a8-4092-914c-995dbb9b607b g.chr1:67299306G>A ENST00000371026.3 - 13 2030 c.1975C>T c.(1975-1977)Cga>Tga p.R659* WDR78_ENST00000431318.1_Nonsense_Mutation_p.R405* NM_024763.4 NP_079039.4 Q5VTH9 WDR78_HUMAN WD repeat domain 78 659 NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3) 32 GGAGCCTGTCGAGATATCAAA 0.338000 4 41 0 0 1 0 0 PIEZO2 63895 broad.mit.edu 37 18 10696535 10696535 + Missense_Mutation SNP G G A TCGA-HC-A8D0-01A-11D-A364-08 TCGA-HC-A8D0-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d04bc84-6f8d-4ff3-8044-44e342859531 15291a8d-12a8-4092-914c-995dbb9b607b g.chr18:10696535G>A ENST00000302079.6 - 42 6490 c.6491C>T c.(6490-6492)aCg>aTg p.T2164M PIEZO2_ENST00000538948.1_Missense_Mutation_p.T121M|PIEZO2_ENST00000285141.4_Missense_Mutation_p.T19M|PIEZO2_ENST00000503781.3_Missense_Mutation_p.T2164M|PIEZO2_ENST00000580640.1_Missense_Mutation_p.T2189M Q9H5I5 PIEZ2_HUMAN piezo-type mechanosensitive ion channel component 2 2164 integral to membrane ion channel activity GATCTCCAGCGTCCTGCAAAA 0.527000 3 32 0 0 1 0 0 CSAG4 0 broad.mit.edu 37 X 151896231 151896231 + RNA SNP A A G TCGA-HC-A8D0-01A-11D-A364-08 TCGA-HC-A8D0-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d04bc84-6f8d-4ff3-8044-44e342859531 15291a8d-12a8-4092-914c-995dbb9b607b g.chrX:151896231A>G ENST00000361201.4 - 0 499 NR_073432.1 endometrium(2)|kidney(2)|lung(1) 5 GAGTGGCTGGATAGTGTTGGC 0.517000 5 19 0 0 1 0 0 GPR142 350383 broad.mit.edu 37 17 72368116 72368116 + Missense_Mutation SNP C C T rs149042051 byFrequency TCGA-HC-A8D0-01A-11D-A364-08 TCGA-HC-A8D0-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d04bc84-6f8d-4ff3-8044-44e342859531 15291a8d-12a8-4092-914c-995dbb9b607b g.chr17:72368116C>T ENST00000335666.4 + 4 814 c.766C>T c.(766-768)Cgc>Tgc p.R256C NM_181790.1 NP_861455.1 Q7Z601 GP142_HUMAN G protein-coupled receptor 142 256 cell junction|cytoplasm|integral to membrane G-protein coupled receptor activity p.R256C(1) central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4) 35 CACGGTTGACCGCTACACTGC 0.687000 6 29 0 0 1 0 0 KCNA7 3743 broad.mit.edu 37 19 49573832 49573832 + Missense_Mutation SNP G G A rs143607148 TCGA-HC-A8D0-01A-11D-A364-08 TCGA-HC-A8D0-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d04bc84-6f8d-4ff3-8044-44e342859531 15291a8d-12a8-4092-914c-995dbb9b607b g.chr19:49573832G>A ENST00000221444.1 - 2 1214 c.859C>T c.(859-861)Cgc>Tgc p.R287C NM_031886.2 NP_114092.2 Q96RP8 KCNA7_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 7 287 voltage-gated potassium channel complex voltage-gated potassium channel activity central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|skin(2) 11 all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441) TTGAAGATGCGGAAGACACGC 0.617000 4 48 0 0 1 0 0 PLA2G4F 255189 broad.mit.edu 37 15 42446617 42446617 + Missense_Mutation SNP G G A TCGA-HC-A8D0-01A-11D-A364-08 TCGA-HC-A8D0-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d04bc84-6f8d-4ff3-8044-44e342859531 15291a8d-12a8-4092-914c-995dbb9b607b g.chr15:42446617G>A ENST00000397272.3 - 3 315 c.224C>T c.(223-225)aCg>aTg p.T75M PLA2G4F_ENST00000382396.4_Missense_Mutation_p.T75M NM_213600.3 NP_998765.3 Q68DD2 PA24F_HUMAN phospholipase A2, group IVF 75 C2. phospholipid catabolic process cytosol|lysosomal membrane metal ion binding|phospholipase A2 activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 32 all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091) GBM - Glioblastoma multiforme(94;8.97e-07) TGGGGACGCCGTGGGCAGCCA 0.587000 3 32 0 0 1 0 0 AKAP17A 8227 broad.mit.edu 37 X 1712837 1712837 + Missense_Mutation SNP T T A TCGA-HC-A8D0-01A-11D-A364-08 TCGA-HC-A8D0-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d04bc84-6f8d-4ff3-8044-44e342859531 15291a8d-12a8-4092-914c-995dbb9b607b g.chrX:1712837T>A ENST00000313871.3 + 2 678 c.482T>A c.(481-483)cTg>cAg p.L161Q AKAP17A_ENST00000381261.3_Missense_Mutation_p.L161Q NM_005088.2 NP_005079.2 Q02040 AK17A_HUMAN A kinase (PRKA) anchor protein 17A 161 RRM. B cell activation|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|signal transduction nuclear speck|spliceosomal complex nucleotide binding|protein binding|RNA binding breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3) 26 TGGTTCGCCCTGAAGGAGTCG 0.642000 23 117 0 0 1 0 0 TMPRSS2 0 broad.mit.edu 37 21 42866285 42866285 + Nonsense_Mutation SNP G G C TCGA-HC-A8D0-01A-11D-A364-08 TCGA-HC-A8D0-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d04bc84-6f8d-4ff3-8044-44e342859531 15291a8d-12a8-4092-914c-995dbb9b607b g.chr21:42866285G>C ENST00000398585.3 - 3 407 c.347C>G c.(346-348)tCa>tGa p.S116* TMPRSS2_ENST00000458356.1_Nonsense_Mutation_p.S79*|TMPRSS2_ENST00000497881.1_Intron|TMPRSS2_ENST00000332149.5_Nonsense_Mutation_p.S79* NM_001135099.1 NP_001128571.1 O15393 TMPS2_HUMAN transmembrane protease, serine 2 79 LDL-receptor class A. proteolysis cytoplasm|extracellular region|integral to plasma membrane scavenger receptor activity|serine-type endopeptidase activity TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13) central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 4 Prostate(19;4.48e-07)|all_epithelial(19;0.031) AATCCTACTTGAGGTGCACAC 0.617000 T """ERG, ETV1, ETV4, ETV5""" prostate 3 18 0 0 1 0 0 CNTNAP2 26047 broad.mit.edu 37 7 146829413 146829413 + Missense_Mutation SNP C C T TCGA-HC-A8D0-01A-11D-A364-08 TCGA-HC-A8D0-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d04bc84-6f8d-4ff3-8044-44e342859531 15291a8d-12a8-4092-914c-995dbb9b607b g.chr7:146829413C>T ENST00000361727.3 + 8 1676 c.1160C>T c.(1159-1161)cCc>cTc p.P387L NM_014141.5 NP_054860.1 Q9UHC6 CNTP2_HUMAN contactin associated protein-like 2 387 behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) CTGGAGGTGCCCGGACGGCTT 0.478000 HNSCC(39;0.1) 27 82 0 0 1 0 0 CAND2 23066 broad.mit.edu 37 3 12858463 12858463 + Missense_Mutation SNP G G A TCGA-HC-A8D0-01A-11D-A364-08 TCGA-HC-A8D0-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d04bc84-6f8d-4ff3-8044-44e342859531 15291a8d-12a8-4092-914c-995dbb9b607b g.chr3:12858463G>A ENST00000456430.2 + 10 2073 c.2032G>A c.(2032-2034)Gcc>Acc p.A678T CAND2_ENST00000295989.5_Missense_Mutation_p.A585T NM_001162499.1 NP_001155971.1 O75155 CAND2_HUMAN cullin-associated and neddylation-dissociated 2 (putative) 678 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 AGCCCTGGACGCCCTGGCCCA 0.667000 6 42 0 0 1 0 0 SDK1 221935 broad.mit.edu 37 7 4088996 4088996 + Silent SNP G G A rs146784103 TCGA-HC-A8D0-01A-11D-A364-08 TCGA-HC-A8D0-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d04bc84-6f8d-4ff3-8044-44e342859531 15291a8d-12a8-4092-914c-995dbb9b607b g.chr7:4088996G>A ENST00000404826.2 + 18 2758 c.2619G>A c.(2617-2619)ccG>ccA p.P873P SDK1_ENST00000389531.3_Silent_p.P873P NM_152744.3 NP_689957.3 Q7Z5N4 SDK1_HUMAN sidekick cell adhesion molecule 1 873 Fibronectin type-III 3. cell adhesion integral to membrane NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4) 153 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) CCGCGCCCCCGCAGAACGTGC 0.567000 3 32 0 0 1 0 0 MTTP 4547 broad.mit.edu 37 4 100543849 100543849 + Silent SNP G G A TCGA-HC-A8D0-01A-11D-A364-08 TCGA-HC-A8D0-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d04bc84-6f8d-4ff3-8044-44e342859531 15291a8d-12a8-4092-914c-995dbb9b607b g.chr4:100543849G>A ENST00000457717.1 + 19 2785 c.2529G>A c.(2527-2529)aaG>aaA p.K843K MTTP_ENST00000511045.1_Silent_p.K870K|RP11-766F14.1_ENST00000508578.1_RNA|MTTP_ENST00000265517.5_Silent_p.K843K NM_000253.2 NP_000244.2 P55157 MTP_HUMAN microsomal triglyceride transfer protein 843 lipid metabolic process|lipoprotein metabolic process endoplasmic reticulum lumen lipid binding|lipid transporter activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1) 57 OV - Ovarian serous cystadenocarcinoma(123;6.04e-09) Hesperetin(DB01094) TTGAGAAAAAGTACGAAAGGC 0.418000 13 46 0 0 1 0 0 APC 324 broad.mit.edu 37 5 112175949 112175949 + Missense_Mutation SNP C C T TCGA-HC-A8D0-01A-11D-A364-08 TCGA-HC-A8D0-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d04bc84-6f8d-4ff3-8044-44e342859531 15291a8d-12a8-4092-914c-995dbb9b607b g.chr5:112175949C>T ENST00000457016.1 + 16 5038 c.4658C>T c.(4657-4659)gCa>gTa p.A1553V CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Missense_Mutation_p.A1553V|APC_ENST00000508376.2_Missense_Mutation_p.A1553V P25054 APC_HUMAN adenomatous polyposis coli 1553 Ser-rich. canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity p.K1192fs*3(1)|p.?(1) NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20) 3261 all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133) OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191) GAGAAAGAGGCAGAAAAAACT 0.343000 12 """D, Mis, N, F, S""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis TSP Lung(16;0.13) 13 67 0 0 1 0 0 KCNH7 90134 broad.mit.edu 37 2 163292035 163292035 + Nonsense_Mutation SNP G G A TCGA-HC-A8D0-01A-11D-A364-08 TCGA-HC-A8D0-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d04bc84-6f8d-4ff3-8044-44e342859531 15291a8d-12a8-4092-914c-995dbb9b607b g.chr2:163292035G>A ENST00000332142.5 - 8 1726 c.1627C>T c.(1627-1629)Cga>Tga p.R543* KCNH7_ENST00000328032.4_Nonsense_Mutation_p.R536* NM_033272.3 NP_150375.2 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 7 543 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) TCTGAATATCGATCCAGTTTC 0.453000 13 48 0 0 1 0 0 NCOA6 23054 broad.mit.edu 37 20 33345744 33345744 + Silent SNP C C T TCGA-HC-A8D0-01A-11D-A364-08 TCGA-HC-A8D0-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d04bc84-6f8d-4ff3-8044-44e342859531 15291a8d-12a8-4092-914c-995dbb9b607b g.chr20:33345744C>T ENST00000374796.2 - 8 3377 c.807G>A c.(805-807)caG>caA p.Q269Q NCOA6_ENST00000359003.2_Silent_p.Q269Q Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 269 CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding p.Q269Q(15) NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 gctgctgctgctgttgttgtt 0.537000 3 39 0 0 1 0 0 PCDHA12 0 broad.mit.edu 37 5 140257255 140257255 + Missense_Mutation SNP C C T TCGA-HC-A8D0-01A-11D-A364-08 TCGA-HC-A8D0-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d04bc84-6f8d-4ff3-8044-44e342859531 15291a8d-12a8-4092-914c-995dbb9b607b g.chr5:140257255C>T ENST00000398631.2 + 1 2198 c.2198C>T c.(2197-2199)gCg>gTg p.A733V PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron NM_018903.2|NM_031864.1 NP_061726.1|NP_114070.1 NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGCCGGTGCGCGCCGGGCAAG 0.677000 8 24 0 0 1 0 0 KCNN3 3782 broad.mit.edu 37 1 154842199 154842200 + In_Frame_Ins INS - - GCT rs58327065 TCGA-HC-A8D0-01A-11D-A364-08 TCGA-HC-A8D0-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d04bc84-6f8d-4ff3-8044-44e342859531 15291a8d-12a8-4092-914c-995dbb9b607b g.chr1:154842199_154842200insGCT ENST00000271915.3 - 1 556_557 c.241_242insAGC c.(241-243)acc>AGCacc p.80_81insS NM_002249.5 NP_002240.3 Q9UGI6 KCNN3_HUMAN potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 80 Poly-Gln. integral to membrane calmodulin binding p.Q80_P81insQQ(2) cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1) 28 all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00819) GGGATGCGGTGgctgctgctgc 0.698 7 5 --- --- --- --- DLL1 28514 broad.mit.edu 37 6 170598843 170598844 + Frame_Shift_Ins INS - - A TCGA-HC-A8D0-01A-11D-A364-08 TCGA-HC-A8D0-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d04bc84-6f8d-4ff3-8044-44e342859531 15291a8d-12a8-4092-914c-995dbb9b607b g.chr6:170598843_170598844insA ENST00000366756.3 - 2 440_441 c.107_108insT c.(106-108)aggfs p.R36fs NM_005618.3 NP_005609.3 O00548 DLL1_HUMAN delta-like 1 (Drosophila) 36 cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion extracellular region|integral to plasma membrane calcium ion binding|Notch binding NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 33 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584) CCAGCAGCCCCTTCTTGTTGAC 0.703 2 4 --- --- --- --- RP11-551L14.1 0 broad.mit.edu 37 12 31269189 31269190 + RNA INS - - ATCAT rs35880498 TCGA-HC-A8D0-01A-11D-A364-08 TCGA-HC-A8D0-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d04bc84-6f8d-4ff3-8044-44e342859531 15291a8d-12a8-4092-914c-995dbb9b607b g.chr12:31269189_31269190insATCAT ENST00000542490.1 - 0 165 central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(25)|prostate(3)|stomach(3)|urinary_tract(1) 41 CATGAGAACTCATTACCATGAT 0.351 5 5 --- --- --- --- POLE 5426 broad.mit.edu 37 12 133252018 133252037 + Frame_Shift_Del DEL TGTACTCCCCCTGGCTGTCC TGTACTCCCCCTGGCTGTCC - TCGA-HC-A8D0-01A-11D-A364-08 TCGA-HC-A8D0-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d04bc84-6f8d-4ff3-8044-44e342859531 15291a8d-12a8-4092-914c-995dbb9b607b g.chr12:133252018_133252037delTGTACTCCCCCTGGCTGTCC ENST00000320574.5 - 12 1216_1235 c.1173_1192delGGACAGCCAGGGGGAGTACA c.(1171-1194)aaagfs p.KDSQGEYK391fs POLE_ENST00000535270.1_Frame_Shift_Del_p.KDSQGEYK364fs NM_006231.2 NP_006222.2 Q07864 DPOE1_HUMAN polymerase (DNA directed), epsilon, catalytic subunit 391 base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 89 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0416) OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05) TGGGGCGCCTTGTACTCCCCCTGGCTGTCCTTCTGGAAGC 0.609 DNA polymerases (catalytic subunits) 9 85 --- --- --- --- ZNF276 92822 broad.mit.edu 37 16 89789741 89789746 + In_Frame_Del DEL CGGGGC CGGGGC - rs146286473 TCGA-HC-A8D0-01A-11D-A364-08 TCGA-HC-A8D0-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d04bc84-6f8d-4ff3-8044-44e342859531 15291a8d-12a8-4092-914c-995dbb9b607b g.chr16:89789741_89789746delCGGGGC ENST00000289816.5 + 4 717_722 c.405_410delCGGGGC c.(403-411)tgc>tg p.CGA135del ZNF276_ENST00000443381.2_In_Frame_Del_p.CGA210del|ZNF276_ENST00000446326.2_In_Frame_Del_p.AGP7del|ZNF276_ENST00000568064.1_In_Frame_Del_p.AGP129del NM_152287.3 NP_689500.2 Q8N554 ZN276_HUMAN zinc finger protein 276 210 ZAD. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1) 14 Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256) BRCA - Breast invasive adenocarcinoma(80;0.0278) CGGCCAGCTGCGGGGCCCTGCCCCAC 0.631 8 41 --- --- --- --- FCGBP 8857 broad.mit.edu 37 19 40376854 40376856 + In_Frame_Del DEL CTT CTT - TCGA-HC-A8D0-01A-11D-A364-08 TCGA-HC-A8D0-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d04bc84-6f8d-4ff3-8044-44e342859531 15291a8d-12a8-4092-914c-995dbb9b607b g.chr19:40376854_40376856delCTT ENST00000221347.6 - 24 11573_11575 c.11566_11568delAAG c.(11566-11568)del p.K3856del NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 3856 VWFD 9. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) CCTTCTGATACTTCTTCTCCAGC 0.655 4 9 --- --- --- ---