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 FAT1 2195 broad.mit.edu 37 4 187540591 187540591 + Silent SNP G G A TCGA-EJ-A8FS-01A-11D-A34U-08 TCGA-EJ-A8FS-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d86eaa-de07-46a6-aa08-8906f255ae65 e3c8391f-2734-44a4-b1d4-729d7637f6d6 g.chr4:187540591G>A ENST00000441802.2 - 10 7358 c.7149C>T c.(7147-7149)ctC>ctT p.L2383L NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 2383 Cadherin 21. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 GATTATCATTGAGGTCGGTAA 0.502000 HNSCC(5;0.00058) 18 44 0 0 1 0 0 ITIH2 3698 broad.mit.edu 37 10 7745433 7745433 + Missense_Mutation SNP T T A TCGA-EJ-A8FS-01A-11D-A34U-08 TCGA-EJ-A8FS-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d86eaa-de07-46a6-aa08-8906f255ae65 e3c8391f-2734-44a4-b1d4-729d7637f6d6 g.chr10:7745433T>A ENST00000358415.4 + 1 202 c.36T>A c.(34-36)ttT>ttA p.F12L ITIH2_ENST00000480387.1_3'UTR|ITIH2_ENST00000379587.4_Missense_Mutation_p.F12L NM_002216.2 NP_002207.2 P19823 ITIH2_HUMAN inter-alpha-trypsin inhibitor heavy chain 2 12 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 TCTGCTTCTTTCTTTCTGAAG 0.428000 37 95 0 0 1 0 0 EPB41L3 23136 broad.mit.edu 37 18 5428394 5428394 + Missense_Mutation SNP C C T TCGA-EJ-A8FS-01A-11D-A34U-08 TCGA-EJ-A8FS-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d86eaa-de07-46a6-aa08-8906f255ae65 e3c8391f-2734-44a4-b1d4-729d7637f6d6 g.chr18:5428394C>T ENST00000341928.2 - 9 1323 c.983G>A c.(982-984)cGa>cAa p.R328Q EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000540638.2_Missense_Mutation_p.R328Q|EPB41L3_ENST00000544123.1_Missense_Mutation_p.R328Q|EPB41L3_ENST00000400111.3_Missense_Mutation_p.R328Q|EPB41L3_ENST00000342933.3_Missense_Mutation_p.R328Q NM_012307.2 NP_036439.2 Q9Y2J2 E41L3_HUMAN erythrocyte membrane protein band 4.1-like 3 328 FERM. cortical actin cytoskeleton organization cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane actin binding|structural molecule activity breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 TCTGTTTATTCGCAGCCGGTC 0.418000 52 103 0 0 1 0 0 CYP2A13 1553 broad.mit.edu 37 19 41595990 41595990 + Missense_Mutation SNP C C T TCGA-EJ-A8FS-01A-11D-A34U-08 TCGA-EJ-A8FS-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d86eaa-de07-46a6-aa08-8906f255ae65 e3c8391f-2734-44a4-b1d4-729d7637f6d6 g.chr19:41595990C>T ENST00000330436.3 + 3 382 c.382C>T c.(382-384)Cgg>Tgg p.R128W NM_000766.4 NP_000757.2 Q16696 CP2AD_HUMAN cytochrome P450, family 2, subfamily A, polypeptide 13 128 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2) 42 Clomipramine(DB01242)|Nicotine(DB00184) CAAGCAGCTCCGGCGCTTCTC 0.701000 3 23 0 0 1 0 0 KCNB2 9312 broad.mit.edu 37 8 73849587 73849587 + Missense_Mutation SNP C C T TCGA-EJ-A8FS-01A-11D-A34U-08 TCGA-EJ-A8FS-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d86eaa-de07-46a6-aa08-8906f255ae65 e3c8391f-2734-44a4-b1d4-729d7637f6d6 g.chr8:73849587C>T ENST00000523207.1 + 3 2585 c.1997C>T c.(1996-1998)aCg>aTg p.T666M NM_004770.2 NP_004761.2 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 2 666 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 85 Breast(64;0.137) Epithelial(68;0.105) AGGGATGGCACGCTGGAGTAT 0.562000 19 31 0 0 1 0 0 PDZD2 23037 broad.mit.edu 37 5 32089032 32089032 + Silent SNP T T C TCGA-EJ-A8FS-01A-11D-A34U-08 TCGA-EJ-A8FS-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d86eaa-de07-46a6-aa08-8906f255ae65 e3c8391f-2734-44a4-b1d4-729d7637f6d6 g.chr5:32089032T>C ENST00000438447.1 + 20 5866 c.5478T>C c.(5476-5478)ccT>ccC p.P1826P PDZD2_ENST00000282493.3_Silent_p.P1826P O15018 PDZD2_HUMAN PDZ domain containing 2 1826 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 CTCTAATGCCTGCCAGAAGTC 0.468000 29 46 0 0 1 0 0 LRRN2 10446 broad.mit.edu 37 1 204589109 204589109 + Silent SNP G G A TCGA-EJ-A8FS-01A-11D-A34U-08 TCGA-EJ-A8FS-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d86eaa-de07-46a6-aa08-8906f255ae65 e3c8391f-2734-44a4-b1d4-729d7637f6d6 g.chr1:204589109G>A ENST00000367175.1 - 1 2224 c.12C>T c.(10-12)ctC>ctT p.L4L LRRN2_ENST00000496057.1_5'UTR|LRRN2_ENST00000367176.3_Silent_p.L4L|LRRN2_ENST00000367177.3_Silent_p.L4L O75325 LRRN2_HUMAN leucine rich repeat neuronal 2 4 cell adhesion integral to membrane receptor activity central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 38 all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143) GTGGGGCCACGAGAAGCCTCA 0.617000 3 5 0 0 1 0 0 ADHFE1 137872 broad.mit.edu 37 8 67356974 67356974 + Missense_Mutation SNP C C T TCGA-EJ-A8FS-01A-11D-A34U-08 TCGA-EJ-A8FS-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d86eaa-de07-46a6-aa08-8906f255ae65 e3c8391f-2734-44a4-b1d4-729d7637f6d6 g.chr8:67356974C>T ENST00000396623.3 + 5 375 c.344C>T c.(343-345)aCg>aTg p.T115M ADHFE1_ENST00000379385.4_Missense_Mutation_p.T115M|ADHFE1_ENST00000496501.1_3'UTR|ADHFE1_ENST00000415254.1_Missense_Mutation_p.T67M NM_144650.2 NP_653251.2 Q8IWW8 HOT_HUMAN alcohol dehydrogenase, iron containing, 1 115 2-oxoglutarate metabolic process|molecular hydrogen transport mitochondrial matrix hydroxyacid-oxoacid transhydrogenase activity|metal ion binding p.T67M(1)|p.T115M(1) breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2) 29 Lung NSC(129;0.197) Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226) GTGGAACCAACGGATTCAAGG 0.438000 4 195 0 0 1 0 0 SEC24C 9632 broad.mit.edu 37 10 75519789 75519789 + Silent SNP G G A TCGA-EJ-A8FS-01A-11D-A34U-08 TCGA-EJ-A8FS-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d86eaa-de07-46a6-aa08-8906f255ae65 e3c8391f-2734-44a4-b1d4-729d7637f6d6 g.chr10:75519789G>A ENST00000339365.2 + 6 657 c.495G>A c.(493-495)tcG>tcA p.S165S SEC24C_ENST00000345254.4_Silent_p.S165S|SEC24C_ENST00000546025.1_Silent_p.S23S|SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000411652.2_Silent_p.S23S NM_004922.3 NP_004913.2 P53992 SC24C_HUMAN SEC24 family member C 165 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm protein binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 32 Prostate(51;0.0112) CACCAACATCGCTGGCTTCAG 0.537000 4 93 0 0 1 0 0 PPP1R3A 5506 broad.mit.edu 37 7 113519779 113519779 + Silent SNP G G C TCGA-EJ-A8FS-01A-11D-A34U-08 TCGA-EJ-A8FS-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d86eaa-de07-46a6-aa08-8906f255ae65 e3c8391f-2734-44a4-b1d4-729d7637f6d6 g.chr7:113519779G>C ENST00000284601.3 - 4 1436 c.1368C>G c.(1366-1368)ccC>ccG p.P456P NM_002711.3 NP_002702.2 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory subunit 3A 456 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 GATCTGAAGAGGGGCAAGGTA 0.398000 5 103 0 0 1 0 0 ELF2 1998 broad.mit.edu 37 4 139980684 139980684 + Nonsense_Mutation SNP G G C TCGA-EJ-A8FS-01A-11D-A34U-08 TCGA-EJ-A8FS-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d86eaa-de07-46a6-aa08-8906f255ae65 e3c8391f-2734-44a4-b1d4-729d7637f6d6 g.chr4:139980684G>C ENST00000394235.2 - 10 1701 c.1199C>G c.(1198-1200)tCa>tGa p.S400* ELF2_ENST00000379549.2_Nonsense_Mutation_p.S323*|ELF2_ENST00000265495.4_Nonsense_Mutation_p.S400*|ELF2_ENST00000515489.1_Intron|ELF2_ENST00000379550.1_Nonsense_Mutation_p.S412*|ELF2_ENST00000358635.3_Nonsense_Mutation_p.S352*|ELF2_ENST00000510408.1_Nonsense_Mutation_p.S340* NM_001276458.1 NP_001263387.1 Q15723 ELF2_HUMAN E74-like factor 2 (ets domain transcription factor) 412 negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter cytoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|ovary(1)|skin(1) 19 all_hematologic(180;0.162) TGCATTAACTGACTGAACTGC 0.433000 4 105 0 0 1 0 0 MYH11 4629 broad.mit.edu 37 16 15808890 15808890 + Missense_Mutation SNP C C T TCGA-EJ-A8FS-01A-11D-A34U-08 TCGA-EJ-A8FS-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d86eaa-de07-46a6-aa08-8906f255ae65 e3c8391f-2734-44a4-b1d4-729d7637f6d6 g.chr16:15808890C>T ENST00000338282.6 - 40 5768 c.5662G>A c.(5662-5664)Gag>Aag p.E1888K MYH11_ENST00000396324.3_Missense_Mutation_p.E1895K|MYH11_ENST00000300036.5_Missense_Mutation_p.E1888K|MYH11_ENST00000576790.1_Missense_Mutation_p.E1888K|NDE1_ENST00000396355.1_Intron|NDE1_ENST00000396354.1_Intron|NDE1_ENST00000342673.5_Intron|MYH11_ENST00000452625.2_Missense_Mutation_p.E1895K NM_022844.2 NP_074035.1 P35749 MYH11_HUMAN myosin, heavy chain 11, smooth muscle 1888 axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction cytosol|melanosome|muscle myosin complex|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1) 123 TCCTCTGCCTCCTCCAGCTGC 0.667000 T CBFB AML 62 179 0 0 1 0 0 EGR1 1958 broad.mit.edu 37 5 137802637 137802637 + Missense_Mutation SNP C C G TCGA-EJ-A8FS-01A-11D-A34U-08 TCGA-EJ-A8FS-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d86eaa-de07-46a6-aa08-8906f255ae65 e3c8391f-2734-44a4-b1d4-729d7637f6d6 g.chr5:137802637C>G ENST00000239938.4 + 2 771 c.499C>G c.(499-501)Cca>Gca p.P167A NM_001964.2 NP_001955.1 P18146 EGR1_HUMAN early growth response 1 167 cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway cytoplasm|nucleus histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) CATGACCAACCCACCGGCCTC 0.652000 48 74 0 0 1 0 0 APC 324 broad.mit.edu 37 5 112174658 112174658 + Nonsense_Mutation SNP C C T TCGA-EJ-A8FS-01A-11D-A34U-08 TCGA-EJ-A8FS-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d86eaa-de07-46a6-aa08-8906f255ae65 e3c8391f-2734-44a4-b1d4-729d7637f6d6 g.chr5:112174658C>T ENST00000457016.1 + 16 3747 c.3367C>T c.(3367-3369)Caa>Taa p.Q1123* APC_ENST00000257430.4_Nonsense_Mutation_p.Q1123*|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Nonsense_Mutation_p.Q1123* P25054 APC_HUMAN adenomatous polyposis coli 1123 Responsible for down-regulation through a process mediated by direct ubiquitination.|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.?(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) TGGAATTAATCAAAATGTAAG 0.403000 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) 15 22 0 0 1 0 0 UBXN11 91544 broad.mit.edu 37 1 26608892 26608892 + Silent SNP G G A TCGA-EJ-A8FS-01A-11D-A34U-08 TCGA-EJ-A8FS-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d86eaa-de07-46a6-aa08-8906f255ae65 e3c8391f-2734-44a4-b1d4-729d7637f6d6 g.chr1:26608892G>A ENST00000314675.7 - 11 1180 c.1101C>T c.(1099-1101)ccC>ccT p.P367P UBXN11_ENST00000374217.2_Silent_p.P454P|UBXN11_ENST00000374223.1_Silent_p.P244P|UBXN11_ENST00000357089.4_Silent_p.P454P|UBXN11_ENST00000374222.1_Silent_p.P487P|UBXN11_ENST00000374221.3_Silent_p.P487P NM_001077262.1 NP_001070730.1 Q5T124 UBX11_HUMAN UBX domain protein 11 487 cytoplasm|cytoskeleton endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3) 23 gaccgggaccgggacagggac 0.716000 3 32 0 0 1 0 0 N4BP2 55728 broad.mit.edu 37 4 40123039 40123039 + Nonsense_Mutation SNP C C A TCGA-EJ-A8FS-01A-11D-A34U-08 TCGA-EJ-A8FS-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d86eaa-de07-46a6-aa08-8906f255ae65 e3c8391f-2734-44a4-b1d4-729d7637f6d6 g.chr4:40123039C>A ENST00000261435.6 + 9 3724 c.3308C>A c.(3307-3309)tCa>tAa p.S1103* NM_018177.4 NP_060647.2 Q86UW6 N4BP2_HUMAN NEDD4 binding protein 2 1103 cytoplasm ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1) 60 GGATCCTTTTCATTAGAAGCC 0.348000 18 39 7.21436e-19 7.76931e-19 1 1 0 MARCO 8685 broad.mit.edu 37 2 119727707 119727707 + Missense_Mutation SNP C C T TCGA-EJ-A8FS-01A-11D-A34U-08 TCGA-EJ-A8FS-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d86eaa-de07-46a6-aa08-8906f255ae65 e3c8391f-2734-44a4-b1d4-729d7637f6d6 g.chr2:119727707C>T ENST00000327097.4 + 3 352 c.217C>T c.(217-219)Cgg>Tgg p.R73W MARCO_ENST00000541757.1_5'UTR NM_006770.3 NP_006761.1 Q9UEW3 MARCO_HUMAN macrophage receptor with collagenous structure 73 cell surface receptor linked signaling pathway|innate immune response collagen|integral to plasma membrane pattern recognition receptor activity|scavenger receptor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 70 TCTGCAGGCGCGGCTCCGGGT 0.547000 17 37 0 0 1 0 0 KIAA1147 57189 broad.mit.edu 37 7 141385300 141385300 + Missense_Mutation SNP G G C TCGA-EJ-A8FS-01A-11D-A34U-08 TCGA-EJ-A8FS-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d86eaa-de07-46a6-aa08-8906f255ae65 e3c8391f-2734-44a4-b1d4-729d7637f6d6 g.chr7:141385300G>C ENST00000536163.1 - 3 504 c.505C>G c.(505-507)Cac>Gac p.H169D KIAA1147_ENST00000482493.1_Missense_Mutation_p.H78D NM_001080392.1 NP_001073861.1 A4D1U4 LCHN_HUMAN KIAA1147 169 breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|ovary(1)|skin(1) 12 Melanoma(164;0.0171) TCCAAGAAGTGCATGTAGCGG 0.592000 51 77 0 0 1 0 0 OTX1 5013 broad.mit.edu 37 2 63282953 63282953 + Silent SNP G G A TCGA-EJ-A8FS-01A-11D-A34U-08 TCGA-EJ-A8FS-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d86eaa-de07-46a6-aa08-8906f255ae65 e3c8391f-2734-44a4-b1d4-729d7637f6d6 g.chr2:63282953G>A ENST00000282549.2 + 5 843 c.567G>A c.(565-567)gcG>gcA p.A189A OTX1_ENST00000366671.3_Silent_p.A189A NM_014562.3 NP_055377.1 P32242 OTX1_HUMAN orthodenticle homeobox 1 189 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 20 Lung NSC(7;0.121)|all_lung(7;0.211) CAGCGCCCGCGTCCGTGTCGG 0.682000 7 11 0 0 1 0 0 TPTE2P6 0 broad.mit.edu 37 13 25168432 25168432 + RNA SNP T T C rs149337771 by1000genomes TCGA-EJ-A8FS-01A-11D-A34U-08 TCGA-EJ-A8FS-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d86eaa-de07-46a6-aa08-8906f255ae65 e3c8391f-2734-44a4-b1d4-729d7637f6d6 g.chr13:25168432T>C ENST00000453498.1 + 0 1104 TTGAAACAGCTGGTGTATTAA 0.373000 3 33 0 0 1 0 0 EPB42 2038 broad.mit.edu 37 15 43500934 43500934 + Missense_Mutation SNP G G A TCGA-EJ-A8FS-01A-11D-A34U-08 TCGA-EJ-A8FS-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d86eaa-de07-46a6-aa08-8906f255ae65 e3c8391f-2734-44a4-b1d4-729d7637f6d6 g.chr15:43500934G>A ENST00000300215.3 - 7 1419 c.962C>T c.(961-963)aCg>aTg p.T321M EPB42_ENST00000540029.1_Missense_Mutation_p.T213M|EPB42_ENST00000441366.2_Missense_Mutation_p.T291M P16452 EPB42_HUMAN erythrocyte membrane protein band 4.2 291 erythrocyte maturation|peptide cross-linking|regulation of cell shape cytoplasm|cytoskeleton|plasma membrane ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;8.7e-07) TGAGGCAAACGTGGTCACCAC 0.612000 31 54 0 0 1 0 0 DDX17 10521 broad.mit.edu 37 22 38881961 38881961 + Silent SNP A A G TCGA-EJ-A8FS-01A-11D-A34U-08 TCGA-EJ-A8FS-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d86eaa-de07-46a6-aa08-8906f255ae65 e3c8391f-2734-44a4-b1d4-729d7637f6d6 g.chr22:38881961A>G ENST00000396821.3 - 13 2274 c.2175T>C c.(2173-2175)ccT>ccC p.P725P DDX17_ENST00000444597.1_Silent_p.P175P|DDX17_ENST00000381633.3_Silent_p.P646P NM_001098504.1|NM_006386.4 NP_001091974.1|NP_006377.2 Q92841 DDX17_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 17 644 RNA processing nucleus ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 25 Melanoma(58;0.0286) Aaggaggaggagggggaggag 0.473000 3 51 0 0 1 0 0 SMC2 10592 broad.mit.edu 37 9 106876995 106876995 + Missense_Mutation SNP G G C TCGA-EJ-A8FS-01A-11D-A34U-08 TCGA-EJ-A8FS-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d86eaa-de07-46a6-aa08-8906f255ae65 e3c8391f-2734-44a4-b1d4-729d7637f6d6 g.chr9:106876995G>C ENST00000286398.7 + 13 1844 c.1556G>C c.(1555-1557)aGa>aCa p.R519T SMC2_ENST00000374793.3_Missense_Mutation_p.R519T|SMC2_ENST00000303219.8_Missense_Mutation_p.R519T|SMC2_ENST00000374787.3_Missense_Mutation_p.R519T NM_001042551.1|NM_001265602.1|NM_006444.2 NP_001036016.1|NP_001252531.1|NP_006435.2 O95347 SMC2_HUMAN structural maintenance of chromosomes 2 519 Flexible hinge. cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism condensin complex|cytoplasm|nuclear chromosome ATP binding|protein heterodimerization activity breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2) 48 AACTGGAATAGAAATTGTGTG 0.358000 26 54 0 0 1 0 0 PDE9A 5152 broad.mit.edu 37 21 44190855 44190855 + Nonsense_Mutation SNP G G T TCGA-EJ-A8FS-01A-11D-A34U-08 TCGA-EJ-A8FS-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d86eaa-de07-46a6-aa08-8906f255ae65 e3c8391f-2734-44a4-b1d4-729d7637f6d6 g.chr21:44190855G>T ENST00000291539.6 + 18 1693 c.1633G>T c.(1633-1635)Gaa>Taa p.E545* PDE9A_ENST00000470987.1_3'UTR|PDE9A_ENST00000398224.3_Nonsense_Mutation_p.E418*|PDE9A_ENST00000398236.3_Nonsense_Mutation_p.E459*|PDE9A_ENST00000398225.3_Nonsense_Mutation_p.E504*|PDE9A_ENST00000539837.1_Nonsense_Mutation_p.E417*|PDE9A_ENST00000335512.4_Nonsense_Mutation_p.E485*|PDE9A_ENST00000398229.3_Nonsense_Mutation_p.E411*|PDE9A_ENST00000398232.3_Nonsense_Mutation_p.E478*|PDE9A_ENST00000398234.3_Nonsense_Mutation_p.E444*|PDE9A_ENST00000380328.2_Nonsense_Mutation_p.E492*|PDE9A_ENST00000398227.3_Nonsense_Mutation_p.E385*|PDE9A_ENST00000335440.6_Nonsense_Mutation_p.E443*|PDE9A_ENST00000349112.3_Nonsense_Mutation_p.E417*|PDE9A_ENST00000328862.6_Nonsense_Mutation_p.E519* NM_002606.2 NP_002597.1 O76083 PDE9A_HUMAN phosphodiesterase 9A 545 Catalytic (By similarity). platelet activation|signal transduction cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 27 GCCACTTTGGGAATCCCGAGA 0.527000 21 6 1.50039e-11 1.55596e-11 1 1 0 SMG7 9887 broad.mit.edu 37 1 183514379 183514379 + Nonsense_Mutation SNP C C T TCGA-EJ-A8FS-01A-11D-A34U-08 TCGA-EJ-A8FS-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d86eaa-de07-46a6-aa08-8906f255ae65 e3c8391f-2734-44a4-b1d4-729d7637f6d6 g.chr1:183514379C>T ENST00000367537.3 + 17 2446 c.2251C>T c.(2251-2253)Caa>Taa p.Q751* SMG7_ENST00000515829.2_Nonsense_Mutation_p.Q722*|SMG7_ENST00000507469.1_Nonsense_Mutation_p.Q722*|SMG7_ENST00000508461.1_Nonsense_Mutation_p.Q726*|SMG7_ENST00000456731.2_Nonsense_Mutation_p.Q680*|SMG7_ENST00000347615.2_Nonsense_Mutation_p.Q768* Q92540 SMG7_HUMAN SMG7 nonsense mediated mRNA decay factor 768 Gln/Pro-rich. mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation cytoplasm|intermediate filament cytoskeleton|nucleus protein phosphatase 2A binding breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 AACTCAGCAACAACAATCCCC 0.512000 4 74 0 0 1 0 0 NKAP 79576 broad.mit.edu 37 X 119077407 119077407 + Silent SNP A A G TCGA-EJ-A8FS-01A-11D-A34U-08 TCGA-EJ-A8FS-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d86eaa-de07-46a6-aa08-8906f255ae65 e3c8391f-2734-44a4-b1d4-729d7637f6d6 g.chrX:119077407A>G ENST00000371410.3 - 1 328 c.162T>C c.(160-162)aaT>aaC p.N54N NM_024528.3 NP_078804.2 Q8N5F7 NKAP_HUMAN NFKB activating protein 54 Ser-rich. negative regulation of transcription, DNA-dependent|Notch signaling pathway|positive regulation of alpha-beta T cell differentiation|transcription, DNA-dependent cytoplasm|nucleus chromatin binding|protein binding breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1) 20 GGGTGAGTCCATTCCGGTCCC 0.682000 5 1 0 0 1 0 0 MLPH 79083 broad.mit.edu 37 2 238402143 238402143 + Missense_Mutation SNP A A T TCGA-EJ-A8FS-01A-11D-A34U-08 TCGA-EJ-A8FS-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d86eaa-de07-46a6-aa08-8906f255ae65 e3c8391f-2734-44a4-b1d4-729d7637f6d6 g.chr2:238402143A>T ENST00000264605.3 + 2 368 c.74A>T c.(73-75)gAt>gTt p.D25V MLPH_ENST00000409373.1_Missense_Mutation_p.D25V|MLPH_ENST00000468178.1_3'UTR|MLPH_ENST00000410032.1_Missense_Mutation_p.D25V|MLPH_ENST00000445024.2_Missense_Mutation_p.D25V|MLPH_ENST00000338530.4_Missense_Mutation_p.D25V NM_024101.5 NP_077006.1 Q9BV36 MELPH_HUMAN melanophilin 25 RabBD. metal ion binding NS(1)|breast(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1) 25 Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203) Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316) GTTCAACGAGATTTTGACCTC 0.542000 22 74 0 0 1 0 0 TRAP1 10131 broad.mit.edu 37 16 3713497 3713497 + Missense_Mutation SNP T T G rs143144399 TCGA-EJ-A8FS-01A-11D-A34U-08 TCGA-EJ-A8FS-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d86eaa-de07-46a6-aa08-8906f255ae65 e3c8391f-2734-44a4-b1d4-729d7637f6d6 g.chr16:3713497T>G ENST00000575671.1 - 9 1738 c.1009A>C c.(1009-1011)Aag>Cag p.K337Q TRAP1_ENST00000246957.5_Missense_Mutation_p.K546Q|DNASE1_ENST00000575152.1_3'UTR|TRAP1_ENST00000538171.1_Missense_Mutation_p.K493Q|DNASE1_ENST00000414110.2_3'UTR Q12931 TRAP1_HUMAN TNF receptor-associated protein 1 546 cellular response to oxidative stress|protein folding mitochondrion ATP binding|tumor necrosis factor receptor binding|unfolded protein binding central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 19 Ovarian(90;0.0261) GAGATCAGCTTCTTCTTGTCA 0.552000 22 53 0 0 1 0 0 CHRNA9 55584 broad.mit.edu 37 4 40351353 40351353 + Missense_Mutation SNP A A G TCGA-EJ-A8FS-01A-11D-A34U-08 TCGA-EJ-A8FS-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d86eaa-de07-46a6-aa08-8906f255ae65 e3c8391f-2734-44a4-b1d4-729d7637f6d6 g.chr4:40351353A>G ENST00000310169.2 + 4 959 c.820A>G c.(820-822)Acc>Gcc p.T274A NM_017581.3 NP_060051.2 Q9UGM1 ACHA9_HUMAN cholinergic receptor, nicotinic, alpha 9 (neuronal) 274 elevation of cytosolic calcium ion concentration|synaptic transmission cell junction|postsynaptic membrane calcium channel activity|receptor activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1) 33 Nicotine(DB00184) CCTGGGAGTGACCATCCTGTT 0.507000 84 151 0 0 1 0 0 ARHGAP33 115703 broad.mit.edu 37 19 36278974 36278974 + Silent SNP C C T TCGA-EJ-A8FS-01A-11D-A34U-08 TCGA-EJ-A8FS-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d86eaa-de07-46a6-aa08-8906f255ae65 e3c8391f-2734-44a4-b1d4-729d7637f6d6 g.chr19:36278974C>T ENST00000007510.4 + 21 3651 c.3507C>T c.(3505-3507)taC>taT p.Y1169Y ARHGAP33_ENST00000314737.5_Silent_p.Y1008Y|ARHGAP33_ENST00000378944.5_Silent_p.Y1005Y O14559 RHG33_HUMAN Rho GTPase activating protein 33 1169 cell communication|protein transport|signal transduction intracellular GTPase activator activity|phosphatidylinositol binding|protein binding endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 37 AGCCCCTCTACGTCAACCTAG 0.682000 22 42 0 0 1 0 0 DNASE2 1777 broad.mit.edu 37 19 12986907 12986907 + Missense_Mutation SNP C C A TCGA-EJ-A8FS-01A-11D-A34U-08 TCGA-EJ-A8FS-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d86eaa-de07-46a6-aa08-8906f255ae65 e3c8391f-2734-44a4-b1d4-729d7637f6d6 g.chr19:12986907C>A ENST00000222219.3 - 6 1072 c.980G>T c.(979-981)tGt>tTt p.C327F DNASE2_ENST00000538460.1_Missense_Mutation_p.C272F NM_001375.2 NP_001366.1 O00115 DNS2A_HUMAN deoxyribonuclease II, lysosomal 327 apoptosis lysosome deoxyribonuclease II activity|DNA binding|protein binding breast(1)|large_intestine(1)|lung(4)|ovary(1) 7 CAGCTGGGCACACAGTGTGCC 0.602000 37 59 4.62619e-21 5.07974e-21 1 1 0 THAP7-AS1 0 broad.mit.edu 37 22 21363573 21363573 + RNA SNP G G A TCGA-EJ-A8FS-01A-11D-A34U-08 TCGA-EJ-A8FS-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d86eaa-de07-46a6-aa08-8906f255ae65 e3c8391f-2734-44a4-b1d4-729d7637f6d6 g.chr22:21363573G>A ENST00000452284.1 + 0 1240 THAP7-AS1_ENST00000436079.1_RNA|TUBA3FP_ENST00000422086.1_RNA NR_027051.1 GTAGGGCTCCGTCATGGCCAT 0.552000 10 47 0 0 1 0 0 NUP133 55746 broad.mit.edu 37 1 229580721 229580721 + Missense_Mutation SNP G G A TCGA-EJ-A8FS-01A-11D-A34U-08 TCGA-EJ-A8FS-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d86eaa-de07-46a6-aa08-8906f255ae65 e3c8391f-2734-44a4-b1d4-729d7637f6d6 g.chr1:229580721G>A ENST00000261396.3 - 25 3365 c.3274C>T c.(3274-3276)Cca>Tca p.P1092S NUP133_ENST00000537506.1_Missense_Mutation_p.P1076S|NUP133_ENST00000366679.1_Missense_Mutation_p.P1021S NM_018230.2 NP_060700.2 Q8WUM0 NU133_HUMAN nucleoporin 133kDa 1092 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex nucleocytoplasmic transporter activity|protein binding NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4) 56 Breast(184;0.104)|Ovarian(103;0.249) Prostate(94;0.167) ACTTCAATTGGATCATCTTTG 0.318000 31 98 0 0 1 0 0 PCDHA7 0 broad.mit.edu 37 5 140215504 140215504 + Silent SNP G G T TCGA-EJ-A8FS-01A-11D-A34U-08 TCGA-EJ-A8FS-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d86eaa-de07-46a6-aa08-8906f255ae65 e3c8391f-2734-44a4-b1d4-729d7637f6d6 g.chr5:140215504G>T ENST00000525929.1 + 1 1536 c.1536G>T c.(1534-1536)gcG>gcT p.A512A PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000378125.3_Silent_p.A512A|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron NM_018910.2 NP_061733.1 NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAGTGCACGCGGAGAGCGGCA 0.701000 61 101 9.40535e-28 1.0534e-27 1 1 0 GTF3C6 112495 broad.mit.edu 37 6 111288987 111288987 + Silent SNP G G A TCGA-EJ-A8FS-01A-11D-A34U-08 TCGA-EJ-A8FS-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d86eaa-de07-46a6-aa08-8906f255ae65 e3c8391f-2734-44a4-b1d4-729d7637f6d6 g.chr6:111288987G>A ENST00000329970.7 + 6 846 c.636G>A c.(634-636)ctG>ctA p.L212L GTF3C6_ENST00000480191.1_3'UTR NM_138408.3 NP_612417.1 Q969F1 TF3C6_HUMAN general transcription factor IIIC, polypeptide 6, alpha 35kDa 212 transcription factor TFIIIC complex DNA binding|protein binding NS(1)|kidney(1)|large_intestine(1)|lung(1) 4 all_cancers(87;0.00328)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|Colorectal(196;0.0466)|all_epithelial(87;0.0575) OV - Ovarian serous cystadenocarcinoma(136;0.105)|all cancers(137;0.179)|Epithelial(106;0.186) CTCAAATGCTGCCTTAGAAAT 0.338000 3 29 0 0 1 0 0 KALRN 8997 broad.mit.edu 37 3 123988044 123988044 + Missense_Mutation SNP G G A TCGA-EJ-A8FS-01A-11D-A34U-08 TCGA-EJ-A8FS-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d86eaa-de07-46a6-aa08-8906f255ae65 e3c8391f-2734-44a4-b1d4-729d7637f6d6 g.chr3:123988044G>A ENST00000360013.3 + 5 1032 c.905G>A c.(904-906)cGc>cAc p.R302H KALRN_ENST00000240874.3_Missense_Mutation_p.R302H|KALRN_ENST00000460856.1_Missense_Mutation_p.R302H NM_001024660.3 NP_001019831.2 O60229 KALRN_HUMAN kalirin, RhoGEF kinase 302 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 TGGCATGTGCGCAAGCTCAAG 0.612000 3 51 0 0 1 0 0 FAM178A 0 broad.mit.edu 37 10 102684014 102684014 + Missense_Mutation SNP C C G TCGA-EJ-A8FS-01A-11D-A34U-08 TCGA-EJ-A8FS-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d86eaa-de07-46a6-aa08-8906f255ae65 e3c8391f-2734-44a4-b1d4-729d7637f6d6 g.chr10:102684014C>G ENST00000238961.3 + 5 1404 c.1256C>G c.(1255-1257)tCt>tGt p.S419C FAM178A_ENST00000370269.3_Missense_Mutation_p.S419C|FAM178A_ENST00000370271.3_Missense_Mutation_p.S419C NM_018121.3 NP_060591.3 Q8IX21 F178A_HUMAN family with sequence similarity 178, member A 419 GGCCACCATTCTACCAGGAAT 0.443000 48 65 0 0 1 0 0 ASH1L 55870 broad.mit.edu 37 1 155429593 155429593 + Nonsense_Mutation SNP G G C TCGA-EJ-A8FS-01A-11D-A34U-08 TCGA-EJ-A8FS-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d86eaa-de07-46a6-aa08-8906f255ae65 e3c8391f-2734-44a4-b1d4-729d7637f6d6 g.chr1:155429593G>C ENST00000368346.3 - 4 5720 c.5081C>G c.(5080-5082)tCa>tGa p.S1694* ASH1L_ENST00000392403.3_Nonsense_Mutation_p.S1694* Q9NR48 ASH1L_HUMAN ash1 (absent, small, or homeotic)-like (Drosophila) 1694 Ser-rich. cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|Golgi apparatus|nucleus|tight junction DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4) 124 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) CTAGCCTGTTGAAGAAGTACT 0.423000 7 16 0 0 1 0 0 AE000661.37 0 broad.mit.edu 37 14 22933250 22933250 + RNA SNP G G C TCGA-EJ-A8FS-01A-11D-A34U-08 TCGA-EJ-A8FS-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d86eaa-de07-46a6-aa08-8906f255ae65 e3c8391f-2734-44a4-b1d4-729d7637f6d6 g.chr14:22933250G>C ENST00000514473.2 - 0 225 AE000661.37_ENST00000556777.1_RNA|TRDC_ENST00000390477.2_RNA CTTGGGCTACGAATGCTGTTT 0.433000 12 41 0 0 1 0 0 PPP1R13B 23368 broad.mit.edu 37 14 104212714 104212714 + Silent SNP T T C TCGA-EJ-A8FS-01A-11D-A34U-08 TCGA-EJ-A8FS-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d86eaa-de07-46a6-aa08-8906f255ae65 e3c8391f-2734-44a4-b1d4-729d7637f6d6 g.chr14:104212714T>C ENST00000202556.9 - 9 1428 c.1146A>G c.(1144-1146)aaA>aaG p.K382K PPP1R13B_ENST00000423488.2_5'UTR NM_015316.2 NP_056131.2 Q96KQ4 ASPP1_HUMAN protein phosphatase 1, regulatory subunit 13B 382 apoptosis|induction of apoptosis|negative regulation of cell cycle cytoplasm|nucleus|plasma membrane protein binding endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1) 33 all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155) ACTCACCGGATTTGGATCTTC 0.607000 15 17 0 0 1 0 0 SPOP 8405 broad.mit.edu 37 17 47696643 47696643 + Missense_Mutation SNP A A G TCGA-EJ-A8FS-01A-11D-A34U-08 TCGA-EJ-A8FS-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d86eaa-de07-46a6-aa08-8906f255ae65 e3c8391f-2734-44a4-b1d4-729d7637f6d6 g.chr17:47696643A>G ENST00000393331.3 - 6 775 c.305T>C c.(304-306)tTc>tCc p.F102S SPOP_ENST00000347630.2_Missense_Mutation_p.F102S|SPOP_ENST00000504102.1_Missense_Mutation_p.F102S|SPOP_ENST00000503676.1_Missense_Mutation_p.F102S|SPOP_ENST00000393328.2_Missense_Mutation_p.F102S NM_001007226.1|NM_001007227.1 NP_001007227.1|NP_001007228.1 O43791 SPOP_HUMAN speckle-type POZ protein 102 MATH.|Required for nuclear localization. mRNA processing nucleus protein binding p.F102C(2) endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33) 63 GGAGAATTTGAATTTTGCCCG 0.408000 Prostate(2;0.17) 55 72 0 0 1 0 0 SLC38A3 10991 broad.mit.edu 37 3 50255182 50255182 + RNA SNP C C T TCGA-EJ-A8FS-01A-11D-A34U-08 TCGA-EJ-A8FS-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d86eaa-de07-46a6-aa08-8906f255ae65 e3c8391f-2734-44a4-b1d4-729d7637f6d6 g.chr3:50255182C>T ENST00000420502.1 + 0 918 Q99624 S38A3_HUMAN solute carrier family 38, member 3 cellular nitrogen compound metabolic process|sodium ion transport integral to plasma membrane antiporter activity|L-alanine transmembrane transporter activity|L-asparagine transmembrane transporter activity|L-glutamine transmembrane transporter activity|L-histidine transmembrane transporter activity|symporter activity breast(1)|cervix(1)|endometrium(1)|lung(3) 6 BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615) L-Asparagine(DB00174)|L-Glutamine(DB00130)|L-Histidine(DB00117) ACTTCAGCCACGTGGAGATCG 0.572000 17 31 0 0 1 0 0 TIAM2 26230 broad.mit.edu 37 6 155565186 155565186 + Missense_Mutation SNP G G C TCGA-EJ-A8FS-01A-11D-A34U-08 TCGA-EJ-A8FS-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d86eaa-de07-46a6-aa08-8906f255ae65 e3c8391f-2734-44a4-b1d4-729d7637f6d6 g.chr6:155565186G>C ENST00000461783.3 + 19 4663 c.3390G>C c.(3388-3390)caG>caC p.Q1130H TIAM2_ENST00000529824.2_Missense_Mutation_p.Q1130H|TIAM2_ENST00000360366.4_Missense_Mutation_p.Q1154H|TIAM2_ENST00000456877.2_Missense_Mutation_p.Q442H|TIAM2_ENST00000367174.2_Missense_Mutation_p.Q506H|TIAM2_ENST00000456144.1_Missense_Mutation_p.Q1130H|TIAM2_ENST00000318981.5_Missense_Mutation_p.Q1130H|TIAM2_ENST00000275246.7_Missense_Mutation_p.Q55H|TIAM2_ENST00000528391.2_Missense_Mutation_p.Q466H Q8IVF5 TIAM2_HUMAN T-cell lymphoma invasion and metastasis 2 1130 DH. apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|filopodium|growth cone|lamellipodium receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 65 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053) AGCCACTTCAGAATGAGACCT 0.398000 39 65 0 0 1 0 0 ALPK2 115701 broad.mit.edu 37 18 56246451 56246451 + Missense_Mutation SNP T T A TCGA-EJ-A8FS-01A-11D-A34U-08 TCGA-EJ-A8FS-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d86eaa-de07-46a6-aa08-8906f255ae65 e3c8391f-2734-44a4-b1d4-729d7637f6d6 g.chr18:56246451T>A ENST00000361673.3 - 4 1770 c.1557A>T c.(1555-1557)agA>agT p.R519S NM_052947.3 NP_443179.3 Q86TB3 ALPK2_HUMAN alpha-kinase 2 519 ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2) 84 TTCCCCCCACTCTCTTGTCAG 0.522000 OREG0025011 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 48 105 0 0 1 0 0 ESPNP 0 broad.mit.edu 37 1 17034125 17034126 + RNA INS - - AGCT rs141324796 by1000genomes TCGA-EJ-A8FS-01A-11D-A34U-08 TCGA-EJ-A8FS-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d86eaa-de07-46a6-aa08-8906f255ae65 e3c8391f-2734-44a4-b1d4-729d7637f6d6 g.chr1:17034125_17034126insAGCT ENST00000492551.1 - 0 477_478 NR_026567.1 CAGCAGCAGCCAGCTGAGCACC 0.718 3 4 --- --- --- --- ADH1C 126 broad.mit.edu 37 4 100261040 100261041 + RNA INS - - A rs138827617 by1000genomes TCGA-EJ-A8FS-01A-11D-A34U-08 TCGA-EJ-A8FS-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d86eaa-de07-46a6-aa08-8906f255ae65 e3c8391f-2734-44a4-b1d4-729d7637f6d6 g.chr4:100261040_100261041insA ENST00000515683.1 - 0 1316 NM_000669.3 NP_000660.1 P00326 ADH1G_HUMAN alcohol dehydrogenase 1C (class I), gamma polypeptide ethanol oxidation|xenobiotic metabolic process cytosol alcohol dehydrogenase (NAD) activity|zinc ion binding OV - Ovarian serous cystadenocarcinoma(123;1.08e-07) Fomepizole(DB01213)|NADH(DB00157) AGTGCTTTCACAAAAAAAATCA 0.327 5 5 --- --- --- --- RFPL4B 442247 broad.mit.edu 37 6 112671567 112671568 + Frame_Shift_Ins INS - - T TCGA-EJ-A8FS-01A-11D-A34U-08 TCGA-EJ-A8FS-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d86eaa-de07-46a6-aa08-8906f255ae65 e3c8391f-2734-44a4-b1d4-729d7637f6d6 g.chr6:112671567_112671568insT ENST00000441065.2 + 3 969_970 c.657_658insT c.(655-660)cattttfs p.HF219fs NM_001013734.2 NP_001013756.2 Q6ZWI9 RFPLB_HUMAN ret finger protein-like 4B 219 B30.2/SPRY. zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1) 14 all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209) all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244) AAGAAATCCAGTTTTTTGATGT 0.455 17 25 --- --- --- --- GTF2IRD1P1 0 broad.mit.edu 37 7 66304731 66304731 + RNA DEL T T - TCGA-EJ-A8FS-01A-11D-A34U-08 TCGA-EJ-A8FS-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d86eaa-de07-46a6-aa08-8906f255ae65 e3c8391f-2734-44a4-b1d4-729d7637f6d6 g.chr7:66304731delT ENST00000457166.1 - 0 189 NR_003934.1 TTTCTTTCCCttttttttttt 0.512 3 4 --- --- --- --- TRBV6-5 0 broad.mit.edu 37 7 142180819 142180821 + RNA DEL AGG AGG - TCGA-EJ-A8FS-01A-11D-A34U-08 TCGA-EJ-A8FS-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d86eaa-de07-46a6-aa08-8906f255ae65 e3c8391f-2734-44a4-b1d4-729d7637f6d6 g.chr7:142180819_142180821delAGG ENST00000390368.2 - 0 115 CCTGCAGAGAAGGAGAACAAAGC 0.557 8 90 --- --- --- --- RNF20 56254 broad.mit.edu 37 9 104309224 104309225 + Frame_Shift_Del DEL AC AC - TCGA-EJ-A8FS-01A-11D-A34U-08 TCGA-EJ-A8FS-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d86eaa-de07-46a6-aa08-8906f255ae65 e3c8391f-2734-44a4-b1d4-729d7637f6d6 g.chr9:104309224_104309225delAC ENST00000389120.3 + 7 960_961 c.870_871delAC c.(868-873)cgacfs p.RH290fs NM_019592.5 NP_062538.5 Q5VTR2 BRE1A_HUMAN ring finger protein 20, E3 ubiquitin protein ligase 290 histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process nucleolus|ubiquitin ligase complex histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255) OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311) GACTCAACCGACACTTAGCAGA 0.480 31 25 --- --- --- --- PAK1 5058 broad.mit.edu 37 11 77069990 77069992 + In_Frame_Del DEL CAT CAT - TCGA-EJ-A8FS-01A-11D-A34U-08 TCGA-EJ-A8FS-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d86eaa-de07-46a6-aa08-8906f255ae65 e3c8391f-2734-44a4-b1d4-729d7637f6d6 g.chr11:77069990_77069992delCAT ENST00000356341.3 - 6 1079_1081 c.548_550delATG c.(547-552)gct>g p.DA183del PAK1_ENST00000278568.4_In_Frame_Del_p.DA183del|PAK1_ENST00000525542.1_5'UTR|PAK1_ENST00000530617.1_In_Frame_Del_p.DA183del|PAK1_ENST00000528203.1_In_Frame_Del_p.DA85del NM_002576.4 NP_002567.3 Q13153 PAK1_HUMAN p21 protein (Cdc42/Rac)-activated kinase 1 183 Interaction with CRIPAK. apoptosis|axon guidance|cytoskeleton organization|ER-nucleus signaling pathway|positive regulation of JUN kinase activity|positive regulation of peptidyl-serine phosphorylation|protein autophosphorylation|T cell costimulation|T cell receptor signaling pathway cytosol|focal adhesion|Golgi apparatus ATP binding|collagen binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1) 29 all_cancers(14;1.75e-18) GGTGGGGTAGcatcatcatcatc 0.478 8 170 --- --- --- --- SNORA11 0 broad.mit.edu 37 14 70270922 70270922 + RNA DEL T T - rs11429169 TCGA-EJ-A8FS-01A-11D-A34U-08 TCGA-EJ-A8FS-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d86eaa-de07-46a6-aa08-8906f255ae65 e3c8391f-2734-44a4-b1d4-729d7637f6d6 g.chr14:70270922delT ENST00000408133.1 - 0 126 ATGGATTCTCTTTTTTTTTTT 0.353 3 3 --- --- --- --- FAM98C 147965 broad.mit.edu 37 19 38899502 38899504 + In_Frame_Del DEL AAG AAG - TCGA-EJ-A8FS-01A-11D-A34U-08 TCGA-EJ-A8FS-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d86eaa-de07-46a6-aa08-8906f255ae65 e3c8391f-2734-44a4-b1d4-729d7637f6d6 g.chr19:38899502_38899504delAAG ENST00000252530.5 + 8 1049_1051 c.1030_1032delAAG c.(1030-1032)del p.K349del FAM98C_ENST00000588262.1_3'UTR|FAM98C_ENST00000343358.7_In_Frame_Del_p.K267del NM_174905.3 NP_777565.3 Q17RN3 FA98C_HUMAN family with sequence similarity 98, member C 349 endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 15 all_cancers(60;3.95e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) TTGGGGTCGCAAGAAGAAGAAGA 0.606 7 54 --- --- --- --- FAM217B 63939 broad.mit.edu 37 20 58519620 58519620 + Frame_Shift_Del DEL C C - TCGA-EJ-A8FS-01A-11D-A34U-08 TCGA-EJ-A8FS-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d86eaa-de07-46a6-aa08-8906f255ae65 e3c8391f-2734-44a4-b1d4-729d7637f6d6 g.chr20:58519620delC ENST00000358293.3 + 5 1037 c.622delC c.(622-624)ccfs p.P209fs FAM217B_ENST00000469084.1_3'UTR|FAM217B_ENST00000360816.3_Frame_Shift_Del_p.P209fs NM_001190826.1 NP_001177755.1 Q9NTX9 CT177_HUMAN family with sequence similarity 217, member B 209 CAAAGCAAGGCCCCCCACTGC 0.542 22 31 --- --- --- ---