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 CEP350 9857 broad.mit.edu 37 1 180061879 180061879 + Silent SNP G G A TCGA-IQ-A61O-01A-11D-A30E-08 TCGA-IQ-A61O-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80710170-f798-4580-ba99-e8292225f095 84615bac-ab8d-4525-9501-449d895fd0c4 g.chr1:180061879G>A ENST00000367607.3 + 34 7057 c.6639G>A c.(6637-6639)agG>agA p.R2213R CEP350_ENST00000490141.1_3'UTR NM_014810.4 NP_055625.4 Q5VT06 CE350_HUMAN centrosomal protein 350kDa 2213 centrosome|nucleus|spindle central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 66 GATCATCAAGGAAAATCAGAG 0.368000 4 16 0 0 1 0 0 C11orf48 79081 broad.mit.edu 37 11 62435195 62435195 + Missense_Mutation SNP G G A TCGA-IQ-A61O-01A-11D-A30E-08 TCGA-IQ-A61O-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80710170-f798-4580-ba99-e8292225f095 84615bac-ab8d-4525-9501-449d895fd0c4 g.chr11:62435195G>A ENST00000431002.2 - 2 2149 c.416C>T c.(415-417)cCt>cTt p.P139L C11orf48_ENST00000354588.3_Missense_Mutation_p.P113L|C11orf48_ENST00000532208.1_Missense_Mutation_p.P113L|METTL12_ENST00000532971.1_3'UTR Q9BQE6 CK048_HUMAN chromosome 11 open reading frame 48 139 endometrium(1)|lung(5)|urinary_tract(1) 7 AGGACTTCTAGGGTCCTGTGG 0.478000 6 241 0 0 1 0 0 DUSP1 1843 broad.mit.edu 37 5 172197266 172197266 + Missense_Mutation SNP G G T TCGA-IQ-A61O-01A-11D-A30E-08 TCGA-IQ-A61O-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80710170-f798-4580-ba99-e8292225f095 84615bac-ab8d-4525-9501-449d895fd0c4 g.chr5:172197266G>T ENST00000239223.3 - 2 653 c.411C>A c.(409-411)agC>agA p.S137R RP11-779O18.3_ENST00000523005.1_RNA NM_004417.3 NP_004408.1 P28562 DUS1_HUMAN dual specificity phosphatase 1 137 Rhodanese. cell cycle|endoderm formation|inactivation of MAPK activity nucleoplasm MAP kinase tyrosine/serine/threonine phosphatase activity|non-membrane spanning protein tyrosine phosphatase activity|protein binding NS(1)|breast(2)|endometrium(1)|large_intestine(1)|liver(1)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 10 Renal(175;0.000159)|Lung NSC(126;0.00431)|all_lung(126;0.00729) all_hematologic(541;4.11e-18)|Breast(839;0.00637)|Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.15) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) GBM - Glioblastoma multiforme(465;0.0103) TCGACTGTTTGCTGCACAGCT 0.567000 4 41 0.00024832 0.000261389 1 1 0 FBLL1 345630 broad.mit.edu 37 5 167957190 167957190 + Silent SNP G G A TCGA-IQ-A61O-01A-11D-A30E-08 TCGA-IQ-A61O-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80710170-f798-4580-ba99-e8292225f095 84615bac-ab8d-4525-9501-449d895fd0c4 g.chr5:167957190G>A ENST00000338333.4 + 1 1070 c.681G>A c.(679-681)gaG>gaA p.E227E CGGTCCTGGAGGACGCGCGGC 0.672000 23 16 0 0 1 0 0 AADAC 13 broad.mit.edu 37 3 151535308 151535308 + Missense_Mutation SNP G G A TCGA-IQ-A61O-01A-11D-A30E-08 TCGA-IQ-A61O-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80710170-f798-4580-ba99-e8292225f095 84615bac-ab8d-4525-9501-449d895fd0c4 g.chr3:151535308G>A ENST00000232892.6 + 2 419 c.293G>A c.(292-294)aGa>aAa p.R98K AADAC_ENST00000488869.1_Missense_Mutation_p.R98K|RP11-454C18.2_ENST00000475855.1_RNA|RP11-454C18.2_ENST00000483843.2_RNA NM_001086.2 NP_001077.2 P22760 AAAD_HUMAN arylacetamide deacetylase 98 positive regulation of triglyceride catabolic process endoplasmic reticulum membrane|integral to membrane|microsome carboxylesterase activity|deacetylase activity|serine hydrolase activity|triglyceride lipase activity NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(5)|skin(2) 19 Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112) LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813) GTGCCAAAGAGAAAGTCTGAA 0.448000 40 47 0 0 1 0 0 MAML3 55534 broad.mit.edu 37 4 140811099 140811099 + Splice_Site SNP C C T TCGA-IQ-A61O-01A-11D-A30E-08 TCGA-IQ-A61O-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80710170-f798-4580-ba99-e8292225f095 84615bac-ab8d-4525-9501-449d895fd0c4 g.chr4:140811099C>T ENST00000398940.1 - 1 107 c.108_splice c.e1+1 p.Q36_splice MAML3_ENST00000509479.2_Silent_p.Q497Q|MAML3_ENST00000327122.5_Silent_p.Q341Q Q96JK9 MAML3_HUMAN mastermind-like 3 (Drosophila) 497 Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity p.Q497Q(2) breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2) 25 all_hematologic(180;0.162) gctgctgctgctgctgctgct 0.542000 5 90 0 0 1 0 0 NFASC 23114 broad.mit.edu 37 1 204948630 204948630 + Missense_Mutation SNP G G A TCGA-IQ-A61O-01A-11D-A30E-08 TCGA-IQ-A61O-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80710170-f798-4580-ba99-e8292225f095 84615bac-ab8d-4525-9501-449d895fd0c4 g.chr1:204948630G>A ENST00000367172.4 + 19 2447 c.2119G>A c.(2119-2121)Gag>Aag p.E707K NFASC_ENST00000367169.4_Missense_Mutation_p.E707K|NFASC_ENST00000513543.1_Missense_Mutation_p.E703K|NFASC_ENST00000404076.1_Missense_Mutation_p.E686K|NFASC_ENST00000339876.6_Missense_Mutation_p.E707K|NFASC_ENST00000367171.4_Missense_Mutation_p.E692K|NFASC_ENST00000338515.6_Missense_Mutation_p.E707K|NFASC_ENST00000367170.4_Missense_Mutation_p.E707K|NFASC_ENST00000338586.6_Missense_Mutation_p.E707K|NFASC_ENST00000404907.1_Missense_Mutation_p.E703K|NFASC_ENST00000360049.4_Missense_Mutation_p.E703K|NFASC_ENST00000539706.1_Missense_Mutation_p.E703K|NFASC_ENST00000401399.1_Missense_Mutation_p.E707K O94856 NFASC_HUMAN neurofascin 707 Fibronectin type-III 1. axon guidance|cell adhesion|myelination|peripheral nervous system development integral to membrane|node of Ranvier|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 81 all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) TGCCATCAACGAGGTTGGGAG 0.622000 32 234 0 0 1 0 0 TMEM132D 121256 broad.mit.edu 37 12 129563220 129563220 + Silent SNP C C A TCGA-IQ-A61O-01A-11D-A30E-08 TCGA-IQ-A61O-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80710170-f798-4580-ba99-e8292225f095 84615bac-ab8d-4525-9501-449d895fd0c4 g.chr12:129563220C>A ENST00000422113.2 - 8 2300 c.1974G>T c.(1972-1974)gtG>gtT p.V658V TMEM132D_ENST00000389441.4_Silent_p.V196V NM_133448.2 NP_597705.2 Q14C87 T132D_HUMAN transmembrane protein 132D 658 integral to membrane NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2) 152 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) TCTCGTCCAGCACAGTGATGG 0.567000 13 115 7.93312e-07 8.69383e-07 1 1 0 MUC2 4583 broad.mit.edu 37 11 1093791 1093791 + Silent SNP G G A TCGA-IQ-A61O-01A-11D-A30E-08 TCGA-IQ-A61O-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80710170-f798-4580-ba99-e8292225f095 84615bac-ab8d-4525-9501-449d895fd0c4 g.chr11:1093791G>A ENST00000441003.2 + 30 5637 c.5610G>A c.(5608-5610)acG>acA p.T1870T MUC2_ENST00000361558.6_Intron|MUC2_ENST00000333592.6_Silent_p.T158T NM_002457.2 NP_002448.2 Q02817 MUC2_HUMAN mucin 2, oligomeric mucus/gel-forming 1884 inner mucus layer|outer mucus layer protein binding NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 102 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) CCCCTCTCACGGAGTCAACCA 0.622000 6 397 0 0 1 0 0 GPR32 2854 broad.mit.edu 37 19 51274037 51274037 + Silent SNP C C A TCGA-IQ-A61O-01A-11D-A30E-08 TCGA-IQ-A61O-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80710170-f798-4580-ba99-e8292225f095 84615bac-ab8d-4525-9501-449d895fd0c4 g.chr19:51274037C>A ENST00000270590.4 + 1 317 c.180C>A c.(178-180)ggC>ggA p.G60G NM_001506.1 NP_001497.1 O75388 GPR32_HUMAN G protein-coupled receptor 32 60 integral to plasma membrane N-formyl peptide receptor activity breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 29 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028) GAGTGCTGGGCAATGGGCTGG 0.587000 12 53 9.31168e-06 1.00667e-05 1 1 0 BAGE2 85319 broad.mit.edu 37 21 11038739 11038739 + RNA SNP G G T TCGA-IQ-A61O-01A-11D-A30E-08 TCGA-IQ-A61O-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80710170-f798-4580-ba99-e8292225f095 84615bac-ab8d-4525-9501-449d895fd0c4 g.chr21:11038739G>T ENST00000470054.1 - 0 1464 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TGTTTGGACCGAGGTCTACCA 0.388000 12 163 0.00244969 0.00251251 1 1 0 DEPDC1B 55789 broad.mit.edu 37 5 59943361 59943361 + Splice_Site SNP C C T TCGA-IQ-A61O-01A-11D-A30E-08 TCGA-IQ-A61O-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80710170-f798-4580-ba99-e8292225f095 84615bac-ab8d-4525-9501-449d895fd0c4 g.chr5:59943361C>T ENST00000265036.5 - 3 382 c.e3-1 DEPDC1B_ENST00000545085.1_Splice_Site|DEPDC1B_ENST00000453022.2_Splice_Site NM_018369.2 NP_060839.2 Q8WUY9 DEP1B_HUMAN DEP domain containing 1B regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(2)|skin(2) 17 Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17) AGGAGGAAATCTAAAACCCAA 0.378000 17 53 0 0 1 0 0 NES 10763 broad.mit.edu 37 1 156642568 156642568 + Missense_Mutation SNP C C A rs140134053 by1000genomes TCGA-IQ-A61O-01A-11D-A30E-08 TCGA-IQ-A61O-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80710170-f798-4580-ba99-e8292225f095 84615bac-ab8d-4525-9501-449d895fd0c4 g.chr1:156642568C>A ENST00000368223.3 - 4 1544 c.1412G>T c.(1411-1413)aGc>aTc p.S471I NM_006617.1 NP_006608.1 P48681 NEST_HUMAN nestin 471 Tail. brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation cytoplasm|intermediate filament intermediate filament binding|structural molecule activity central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4) 64 all_hematologic(923;0.088)|Hepatocellular(266;0.158) GTGGTCAGGGCTGAGGGGTGG 0.622000 15 169 2.61681e-11 3.03399e-11 1 1 0 SCN7A 6332 broad.mit.edu 37 2 167263066 167263066 + Missense_Mutation SNP C C T TCGA-IQ-A61O-01A-11D-A30E-08 TCGA-IQ-A61O-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80710170-f798-4580-ba99-e8292225f095 84615bac-ab8d-4525-9501-449d895fd0c4 g.chr2:167263066C>T ENST00000409855.1 - 25 4199 c.4073G>A c.(4072-4074)cGt>cAt p.R1358H NM_002976.3 NP_002967.2 Q01118 SCN7A_HUMAN sodium channel, voltage-gated, type VII, alpha subunit 1358 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1) 44 TTTTCCAAGACGCAGCATGTG 0.468000 37 77 0 0 1 0 0 COL4A4 1286 broad.mit.edu 37 2 227924263 227924263 + Silent SNP G G A TCGA-IQ-A61O-01A-11D-A30E-08 TCGA-IQ-A61O-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80710170-f798-4580-ba99-e8292225f095 84615bac-ab8d-4525-9501-449d895fd0c4 g.chr2:227924263G>A ENST00000396625.3 - 28 2448 c.2241C>T c.(2239-2241)ccC>ccT p.P747P COL4A4_ENST00000329662.7_Silent_p.P747P NM_000092.4 NP_000083.3 P53420 CO4A4_HUMAN collagen, type IV, alpha 4 747 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding p.P747P(1) breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 98 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) CTGGTGAGCCGGGAGGGCCTG 0.552000 42 96 0 0 1 0 0 NDUFAF6 137682 broad.mit.edu 37 8 96053846 96053846 + Missense_Mutation SNP G G A TCGA-IQ-A61O-01A-11D-A30E-08 TCGA-IQ-A61O-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80710170-f798-4580-ba99-e8292225f095 84615bac-ab8d-4525-9501-449d895fd0c4 g.chr8:96053846G>A ENST00000396113.1 + 10 1243 c.193G>A c.(193-195)Gat>Aat p.D65N NDUFAF6_ENST00000396124.4_Missense_Mutation_p.D157N|NDUFAF6_ENST00000396111.2_Missense_Mutation_p.D65N|NDUFAF6_ENST00000542894.1_Missense_Mutation_p.D105N|NDUFAF6_ENST00000286687.4_Missense_Mutation_p.D5N Q330K2 CH038_HUMAN NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 157 biosynthetic process mitochondrion transferase activity GAAAATCGTCGATGAAAGAGT 0.284000 12 85 0 0 1 0 0 MMP1 4312 broad.mit.edu 37 11 102663365 102663365 + Missense_Mutation SNP G G A TCGA-IQ-A61O-01A-11D-A30E-08 TCGA-IQ-A61O-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80710170-f798-4580-ba99-e8292225f095 84615bac-ab8d-4525-9501-449d895fd0c4 g.chr11:102663365G>A ENST00000315274.6 - 7 1071 c.1004C>T c.(1003-1005)gCc>gTc p.A335V WTAPP1_ENST00000525739.2_RNA NM_001145938.1|NM_002421.3 NP_001139410.1|NP_002412.1 P03956 MMP1_HUMAN matrix metallopeptidase 1 (interstitial collagenase) 335 Hemopexin-like 2. blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding p.A335D(1) breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 30 all_epithelial(12;0.0127) all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233) OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014) ATCTCTGTCGGCAAATTCGTA 0.393000 10 1945 0 0 1 0 0 SPATA31A6 389730 broad.mit.edu 37 9 43627187 43627187 + Silent SNP C C T TCGA-IQ-A61O-01A-11D-A30E-08 TCGA-IQ-A61O-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80710170-f798-4580-ba99-e8292225f095 84615bac-ab8d-4525-9501-449d895fd0c4 g.chr9:43627187C>T ENST00000332857.6 - 4 1528 c.1500G>A c.(1498-1500)caG>caA p.Q500Q NM_001145196.1 NP_001138668.1 SPATA31 subfamily A, member 6 p.Q500Q(1) GGAAAGAAGACTGAAGATGGG 0.547000 8 649 0 0 1 0 0 FCGBP 8857 broad.mit.edu 37 19 40384116 40384116 + Missense_Mutation SNP G G A rs144364268 TCGA-IQ-A61O-01A-11D-A30E-08 TCGA-IQ-A61O-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80710170-f798-4580-ba99-e8292225f095 84615bac-ab8d-4525-9501-449d895fd0c4 g.chr19:40384116G>A ENST00000221347.6 - 21 9501 c.9494C>T c.(9493-9495)cCg>cTg p.P3165L NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 3165 TIL 7. 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) ACAGCTGGCCGGGCAGGGTGG 0.607000 35 450 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 216243458 216243458 + Missense_Mutation SNP T T G TCGA-IQ-A61O-01A-11D-A30E-08 TCGA-IQ-A61O-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80710170-f798-4580-ba99-e8292225f095 84615bac-ab8d-4525-9501-449d895fd0c4 g.chr1:216243458T>G ENST00000366943.2 - 30 6420 c.6034A>C c.(6034-6036)Aca>Cca p.T2012P USH2A_ENST00000307340.3_Missense_Mutation_p.T2012P O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 2012 Fibronectin type-III 6. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) AGGTTGCTTGTATTGACAAAT 0.398000 HNSCC(13;0.011) 16 47 0 0 1 0 0 VAV2 7410 broad.mit.edu 37 9 136671256 136671256 + Silent SNP G G A TCGA-IQ-A61O-01A-11D-A30E-08 TCGA-IQ-A61O-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80710170-f798-4580-ba99-e8292225f095 84615bac-ab8d-4525-9501-449d895fd0c4 g.chr9:136671256G>A ENST00000371851.1 - 8 1093 c.768C>T c.(766-768)tcC>tcT p.S256S VAV2_ENST00000371850.3_Silent_p.S261S|VAV2_ENST00000406606.3_Silent_p.S256S P52735 VAV2_HUMAN vav 2 guanine nucleotide exchange factor 261 DH. angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol metal ion binding|Rho guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1) 35 OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06) CCACCATCACGGACACGTCGA 0.632000 12 19 0 0 1 0 0 C14orf39 317761 broad.mit.edu 37 14 60921858 60921858 + Missense_Mutation SNP C C A TCGA-IQ-A61O-01A-11D-A30E-08 TCGA-IQ-A61O-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80710170-f798-4580-ba99-e8292225f095 84615bac-ab8d-4525-9501-449d895fd0c4 g.chr14:60921858C>A ENST00000321731.3 - 16 1523 c.1364G>T c.(1363-1365)aGa>aTa p.R455I NM_174978.2 NP_777638.2 Q08AQ4 Q08AQ4_HUMAN chromosome 14 open reading frame 39 455 breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(108;0.0448) ATTTCTATTTCTGTTACTGAG 0.308000 9 45 5.4927e-09 6.103e-09 1 1 0 PCDHGA3 56112 broad.mit.edu 37 5 140723860 140723860 + Missense_Mutation SNP C C T TCGA-IQ-A61O-01A-11D-A30E-08 TCGA-IQ-A61O-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80710170-f798-4580-ba99-e8292225f095 84615bac-ab8d-4525-9501-449d895fd0c4 g.chr5:140723860C>T ENST00000253812.6 + 1 260 c.260C>T c.(259-261)gCg>gTg p.A87V PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron NM_018916.3|NM_032011.1 NP_061739.2|NP_114400.1 breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTGGTCACCGCGGAGAGGATA 0.537000 45 62 0 0 1 0 0 NAGPA 51172 broad.mit.edu 37 16 5078047 5078047 + Missense_Mutation SNP C C T TCGA-IQ-A61O-01A-11D-A30E-08 TCGA-IQ-A61O-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80710170-f798-4580-ba99-e8292225f095 84615bac-ab8d-4525-9501-449d895fd0c4 g.chr16:5078047C>T ENST00000312251.3 - 6 1079 c.1060G>A c.(1060-1062)Ggt>Agt p.G354S NAGPA_ENST00000381955.3_Missense_Mutation_p.G354S|RP11-165E7.1_ENST00000588778.1_RNA NM_016256.3 NP_057340.2 Q9UK23 NAGPA_HUMAN N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase 354 carbohydrate metabolic process|lysosome organization|protein modification process|protein targeting to lysosome Golgi cisterna membrane|integral to membrane N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity endometrium(4)|large_intestine(4)|lung(3)|urinary_tract(1) 12 N-Acetyl-D-glucosamine(DB00141) CAGCCGGGACCCCGCCAGAAG 0.687000 5 37 0 0 1 0 0 CATSPER1 117144 broad.mit.edu 37 11 65793355 65793355 + Missense_Mutation SNP C C T TCGA-IQ-A61O-01A-11D-A30E-08 TCGA-IQ-A61O-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80710170-f798-4580-ba99-e8292225f095 84615bac-ab8d-4525-9501-449d895fd0c4 g.chr11:65793355C>T ENST00000312106.5 - 1 633 c.496G>A c.(496-498)Gtg>Atg p.V166M NM_053054.3 NP_444282.3 Q8NEC5 CTSR1_HUMAN cation channel, sperm associated 1 166 His-rich. cell differentiation|multicellular organismal development|spermatogenesis cilium|flagellar membrane|integral to membrane protein binding p.V166M(2) breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 44 TGGTGGGGCACGCCAGAGGAA 0.582000 30 61 0 0 1 0 0 DAK 26007 broad.mit.edu 37 11 61106814 61106814 + Silent SNP G G A TCGA-IQ-A61O-01A-11D-A30E-08 TCGA-IQ-A61O-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80710170-f798-4580-ba99-e8292225f095 84615bac-ab8d-4525-9501-449d895fd0c4 g.chr11:61106814G>A ENST00000394900.3 + 5 622 c.393G>A c.(391-393)ccG>ccA p.P131P NM_015533.3 NP_056348.2 Q3LXA3 DHAK_HUMAN dihydroxyacetone kinase 2 homolog (S. cerevisiae) 131 DhaK. glycerol metabolic process cytosol ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1) 23 AAGGCATCCCGGTGGAGATGG 0.647000 24 116 0 0 1 0 0 CC2D1A 54862 broad.mit.edu 37 19 14031616 14031616 + Missense_Mutation SNP G G A TCGA-IQ-A61O-01A-11D-A30E-08 TCGA-IQ-A61O-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80710170-f798-4580-ba99-e8292225f095 84615bac-ab8d-4525-9501-449d895fd0c4 g.chr19:14031616G>A ENST00000318003.7 + 14 1763 c.1522G>A c.(1522-1524)Gca>Aca p.A508T CC2D1A_ENST00000589606.1_Missense_Mutation_p.A508T NM_017721.4 NP_060191.3 Q6P1N0 C2D1A_HUMAN coiled-coil and C2 domain containing 1A 508 positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus|plasma membrane DNA binding|signal transducer activity NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2) 27 OV - Ovarian serous cystadenocarcinoma(19;3.49e-23) CCTGCAGGCCGCACTGCGAGC 0.647000 10 66 0 0 1 0 0 ZIK1 284307 broad.mit.edu 37 19 58101385 58101385 + Missense_Mutation SNP G G A TCGA-IQ-A61O-01A-11D-A30E-08 TCGA-IQ-A61O-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80710170-f798-4580-ba99-e8292225f095 84615bac-ab8d-4525-9501-449d895fd0c4 g.chr19:58101385G>A ENST00000597850.1 + 4 421 c.206G>A c.(205-207)gGc>gAc p.G69D ZIK1_ENST00000599456.1_Missense_Mutation_p.G14D|ZIK1_ENST00000307468.4_Missense_Mutation_p.A14T|ZIK1_ENST00000536878.2_Missense_Mutation_p.G56D NM_001010879.2 NP_001010879.2 Q3SY52 ZIK1_HUMAN zinc finger protein interacting with K protein 1 69 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) TCAGGTTGTGGCCATGGAACA 0.453000 8 33 0 0 1 0 0 ADAMTSL3 57188 broad.mit.edu 37 15 84694059 84694059 + Silent SNP G G T TCGA-IQ-A61O-01A-11D-A30E-08 TCGA-IQ-A61O-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80710170-f798-4580-ba99-e8292225f095 84615bac-ab8d-4525-9501-449d895fd0c4 g.chr15:84694059G>T ENST00000286744.5 + 27 4751 c.4527G>T c.(4525-4527)acG>acT p.T1509T ADAMTSL3_ENST00000567476.1_Silent_p.T1509T NM_207517.2 NP_997400.2 P82987 ATL3_HUMAN ADAMTS-like 3 1509 TSP type-1 9. proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 130 BRCA - Breast invasive adenocarcinoma(143;0.211) GGCAGGTGACGTGCAAGCGGA 0.507000 15 35 0.000308642 0.000320667 1 1 0 FAM47B 170062 broad.mit.edu 37 X 34961676 34961676 + Missense_Mutation SNP G G A TCGA-IQ-A61O-01A-11D-A30E-08 TCGA-IQ-A61O-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80710170-f798-4580-ba99-e8292225f095 84615bac-ab8d-4525-9501-449d895fd0c4 g.chrX:34961676G>A ENST00000329357.5 + 1 764 c.728G>A c.(727-729)cGc>cAc p.R243H NM_152631.2 NP_689844.2 Q8NA70 FA47B_HUMAN family with sequence similarity 47, member B 243 Pro-rich. breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3) 71 CCAGAGACTCGCGCATCTCAT 0.642000 25 101 0 0 1 0 0 FBXW10 10517 broad.mit.edu 37 17 18659367 18659367 + Missense_Mutation SNP A A G TCGA-IQ-A61O-01A-11D-A30E-08 TCGA-IQ-A61O-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80710170-f798-4580-ba99-e8292225f095 84615bac-ab8d-4525-9501-449d895fd0c4 g.chr17:18659367A>G ENST00000308799.4 + 5 1438 c.1219A>G c.(1219-1221)Aac>Gac p.N407D FBXW10_ENST00000301938.4_Missense_Mutation_p.N378D|FBXW10_ENST00000395667.1_Missense_Mutation_p.N378D|FBXW10_ENST00000395665.4_Missense_Mutation_p.N378D Q5XX13 FBW10_HUMAN F-box and WD repeat domain containing 10 378 p.N378D(2) NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 42 GAATGAGTACAACCTGTGGAC 0.478000 4 33 0 0 1 0 0 GOLGA3 2802 broad.mit.edu 37 12 133378430 133378430 + Missense_Mutation SNP G G A TCGA-IQ-A61O-01A-11D-A30E-08 TCGA-IQ-A61O-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80710170-f798-4580-ba99-e8292225f095 84615bac-ab8d-4525-9501-449d895fd0c4 g.chr12:133378430G>A ENST00000204726.3 - 8 2281 c.1723C>T c.(1723-1725)Cgg>Tgg p.R575W GOLGA3_ENST00000545875.1_Missense_Mutation_p.R575W|GOLGA3_ENST00000537452.1_Missense_Mutation_p.R575W|GOLGA3_ENST00000450791.2_Missense_Mutation_p.R575W|GOLGA3_ENST00000456883.2_Missense_Mutation_p.R575W NM_005895.3 NP_005886.2 Q08378 GOGA3_HUMAN golgin A3 575 Gln-rich. intra-Golgi vesicle-mediated transport Golgi cisterna membrane|Golgi transport complex protein binding|transporter activity breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06) TACCACTGCCGGACACTCTGC 0.652000 4 142 0 0 1 0 0 E2F5 1875 broad.mit.edu 37 8 86115438 86115438 + Missense_Mutation SNP T T G TCGA-IQ-A61O-01A-11D-A30E-08 TCGA-IQ-A61O-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80710170-f798-4580-ba99-e8292225f095 84615bac-ab8d-4525-9501-449d895fd0c4 g.chr8:86115438T>G ENST00000418930.2 + 3 650 c.454T>G c.(454-456)Ttg>Gtg p.L152V E2F5_ENST00000519128.1_3'UTR|E2F5_ENST00000517476.1_5'UTR|E2F5_ENST00000416274.2_Missense_Mutation_p.L152V|E2F5_ENST00000521429.1_5'UTR|E2F5_ENST00000256117.5_Missense_Mutation_p.L152V Q15329 E2F5_HUMAN E2F transcription factor 5, p130-binding 152 Dimerization (Potential). G1 phase of mitotic cell cycle transcription factor complex DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding NS(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1) 8 TCAGCAGAAGTTGTGGCTACA 0.318000 6 37 0 0 1 0 0 HAO1 54363 broad.mit.edu 37 20 7886869 7886869 + Missense_Mutation SNP C C G rs142998832 byFrequency TCGA-IQ-A61O-01A-11D-A30E-08 TCGA-IQ-A61O-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80710170-f798-4580-ba99-e8292225f095 84615bac-ab8d-4525-9501-449d895fd0c4 g.chr20:7886869C>G ENST00000378789.3 - 4 704 c.653G>C c.(652-654)aGc>aCc p.S218T NM_017545.2 NP_060015.1 Q9UJM8 HAOX1_HUMAN hydroxyacid oxidase (glycolate oxidase) 1 218 FMN hydroxy acid dehydrogenase. cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process peroxisomal matrix FMN binding|glycolate oxidase activity|glyoxylate oxidase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 ATCTTCCCAGCTGATAGATGG 0.388000 5 122 0 0 1 0 0 TAS2R40 259286 broad.mit.edu 37 7 142919270 142919270 + Missense_Mutation SNP C C T TCGA-IQ-A61O-01A-11D-A30E-08 TCGA-IQ-A61O-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80710170-f798-4580-ba99-e8292225f095 84615bac-ab8d-4525-9501-449d895fd0c4 g.chr7:142919270C>T ENST00000595842.1 - 1 90 c.91G>A c.(91-93)Gat>Aat p.D31N TAS2R40_ENST00000408947.3_Silent_p.I33I TCACTGGCATCCTTGGGAGTG 0.517000 22 125 0 0 1 0 0 PCDH10 57575 broad.mit.edu 37 4 134073184 134073184 + Missense_Mutation SNP G G A TCGA-IQ-A61O-01A-11D-A30E-08 TCGA-IQ-A61O-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80710170-f798-4580-ba99-e8292225f095 84615bac-ab8d-4525-9501-449d895fd0c4 g.chr4:134073184G>A ENST00000264360.4 + 1 2715 c.1889G>A c.(1888-1890)cGc>cAc p.R630H NM_032961.1 NP_116586.1 Q9P2E7 PCD10_HUMAN protocadherin 10 630 Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 136 LUSC - Lung squamous cell carcinoma(193;0.227) AACCTCTTTCGCATGGACTGG 0.672000 6 92 0 0 1 0 0 LOC220729 220729 broad.mit.edu 37 3 197348674 197348674 + RNA SNP A A G rs144273946 by1000genomes TCGA-IQ-A61O-01A-11D-A30E-08 TCGA-IQ-A61O-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80710170-f798-4580-ba99-e8292225f095 84615bac-ab8d-4525-9501-449d895fd0c4 g.chr3:197348674A>G ENST00000418868.1 - 0 585 NR_003266.2 GGCTCTGTCCACCAAATGCAC 0.478000 5 168 0 0 1 0 0 ZNF733P 643955 broad.mit.edu 37 7 62752443 62752443 + RNA SNP G G C TCGA-IQ-A61O-01A-11D-A30E-08 TCGA-IQ-A61O-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80710170-f798-4580-ba99-e8292225f095 84615bac-ab8d-4525-9501-449d895fd0c4 g.chr7:62752443G>C ENST00000331425.6 - 0 992 NR_003952.1 CTTATGTCTAGTAAGGTTTGA 0.438000 3 34 0 0 1 0 0 CEP350 9857 broad.mit.edu 37 1 180061878 180061878 + Missense_Mutation SNP G G A TCGA-IQ-A61O-01A-11D-A30E-08 TCGA-IQ-A61O-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80710170-f798-4580-ba99-e8292225f095 84615bac-ab8d-4525-9501-449d895fd0c4 g.chr1:180061878G>A ENST00000367607.3 + 34 7056 c.6638G>A c.(6637-6639)aGg>aAg p.R2213K CEP350_ENST00000490141.1_3'UTR NM_014810.4 NP_055625.4 Q5VT06 CE350_HUMAN centrosomal protein 350kDa 2213 centrosome|nucleus|spindle central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 66 AGATCATCAAGGAAAATCAGA 0.368000 4 16 0 0 1 0 0 MYLK3 91807 broad.mit.edu 37 16 46781938 46781938 + Missense_Mutation SNP G G T TCGA-IQ-A61O-01A-11D-A30E-08 TCGA-IQ-A61O-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80710170-f798-4580-ba99-e8292225f095 84615bac-ab8d-4525-9501-449d895fd0c4 g.chr16:46781938G>T ENST00000394809.4 - 1 283 c.168C>A c.(166-168)gaC>gaA p.D56E MYLK3_ENST00000536476.1_Intron NM_182493.2 NP_872299.2 Q32MK0 MYLK3_HUMAN myosin light chain kinase 3 56 cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis cytosol ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3) 37 all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116) GGTGGCCCATGTCTCGGCACA 0.627000 11 54 9.70103e-10 1.09307e-09 1 1 0 SOX9 6662 broad.mit.edu 37 17 70119078 70119078 + Missense_Mutation SNP G G A TCGA-IQ-A61O-01A-11D-A30E-08 TCGA-IQ-A61O-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80710170-f798-4580-ba99-e8292225f095 84615bac-ab8d-4525-9501-449d895fd0c4 g.chr17:70119078G>A ENST00000245479.2 + 2 1022 c.650G>A c.(649-651)gGc>gAc p.G217D NM_000346.3 NP_000337.1 P48436 SOX9_HUMAN SRY (sex determining region Y)-box 9 217 cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction nucleus|protein complex core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2) 26 Colorectal(1115;0.245) STAD - Stomach adenocarcinoma(260;0.119) TCCTCCTCCGGCATGAGCGAG 0.697000 5 153 0 0 1 0 0 FZD10 11211 broad.mit.edu 37 12 130648600 130648600 + Missense_Mutation SNP C C T TCGA-IQ-A61O-01A-11D-A30E-08 TCGA-IQ-A61O-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80710170-f798-4580-ba99-e8292225f095 84615bac-ab8d-4525-9501-449d895fd0c4 g.chr12:130648600C>T ENST00000539839.1 + 1 1597 c.1015C>T c.(1015-1017)Cat>Tat p.H339Y FZD10_ENST00000229030.4_Silent_p.V371V NM_007197.3 NP_009128.1 Q9ULW2 FZD10_HUMAN frizzled family receptor 10 0 brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development cell projection|cell surface|cytoplasm|integral to plasma membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1) 35 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05) TGATCCTGGTCATGCGCAGGG 0.662000 7 65 0 0 1 0 0 XAB2 56949 broad.mit.edu 37 19 7685213 7685213 + Silent SNP G G A TCGA-IQ-A61O-01A-11D-A30E-08 TCGA-IQ-A61O-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80710170-f798-4580-ba99-e8292225f095 84615bac-ab8d-4525-9501-449d895fd0c4 g.chr19:7685213G>A ENST00000358368.4 - 16 2251 c.2214C>T c.(2212-2214)gtC>gtT p.V738V XAB2_ENST00000534844.1_Silent_p.V735V NM_020196.2 NP_064581.2 Q9HCS7 SYF1_HUMAN XPA binding protein 2 738 transcription, DNA-dependent|transcription-coupled nucleotide-excision repair catalytic step 2 spliceosome|nucleoplasm protein binding breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1) 26 CCATGAAGTTGACCTGCGTGT 0.612000 Direct reversal of damage;Nucleotide excision repair (NER) 15 60 0 0 1 0 0 AC112229.4 0 broad.mit.edu 37 2 111144370 111144370 + RNA SNP T T C TCGA-IQ-A61O-01A-11D-A30E-08 TCGA-IQ-A61O-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80710170-f798-4580-ba99-e8292225f095 84615bac-ab8d-4525-9501-449d895fd0c4 g.chr2:111144370T>C ENST00000606848.1 - 0 1370 GGCAGCACCATAGTGGCGGCC 0.622000 3 8 0 0 1 0 0 ABCC12 94160 broad.mit.edu 37 16 48149453 48149453 + Missense_Mutation SNP C C T TCGA-IQ-A61O-01A-11D-A30E-08 TCGA-IQ-A61O-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80710170-f798-4580-ba99-e8292225f095 84615bac-ab8d-4525-9501-449d895fd0c4 g.chr16:48149453C>T ENST00000311303.3 - 13 2207 c.1862G>A c.(1861-1863)cGt>cAt p.R621H ABCC12_ENST00000448542.1_Missense_Mutation_p.R621H|ABCC12_ENST00000416054.1_Missense_Mutation_p.V597I NM_033226.2 NP_150229.2 Q96J65 MRP9_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 12 621 ABC transporter 1. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1) 90 all_cancers(37;0.0474)|all_lung(18;0.047) GTAGAGCTGACGGTCGGAGTA 0.622000 16 91 0 0 1 0 0 AP1G2 8906 broad.mit.edu 37 14 24032660 24032660 + Missense_Mutation SNP C C T rs140628752 byFrequency TCGA-IQ-A61O-01A-11D-A30E-08 TCGA-IQ-A61O-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80710170-f798-4580-ba99-e8292225f095 84615bac-ab8d-4525-9501-449d895fd0c4 g.chr14:24032660C>T ENST00000308724.5 - 13 2094 c.1339G>A c.(1339-1341)Ggg>Agg p.G447R AP1G2_ENST00000397120.3_Missense_Mutation_p.G447R|RP11-66N24.3_ENST00000555968.1_RNA NM_003917.2 NP_003908.1 O75843 AP1G2_HUMAN adaptor-related protein complex 1, gamma 2 subunit 447 interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport AP-1 adaptor complex|endosome membrane protein binding|protein transporter activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1) 28 all_cancers(95;0.000251) GBM - Glioblastoma multiforme(265;0.00672) TGGGCCCCCCCAATCAGCTGG 0.602000 OREG0022605 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 29 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578212 7578212 + Nonsense_Mutation SNP G G A TCGA-IQ-A61O-01A-11D-A30E-08 TCGA-IQ-A61O-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80710170-f798-4580-ba99-e8292225f095 84615bac-ab8d-4525-9501-449d895fd0c4 g.chr17:7578212G>A ENST00000420246.2 - 6 769 c.637C>T c.(637-639)Cga>Tga p.R213* TP53_ENST00000269305.4_Nonsense_Mutation_p.R213*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R213*|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Nonsense_Mutation_p.R213*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R213*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R213* NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 213 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R213*(250)|p.R81*(21)|p.R120*(21)|p.0?(8)|p.?(5)|p.R213G(5)|p.R213fs*35(3)|p.R213fs*34(3)|p.D208_V216delDRNTFRHSV(1)|p.R120G(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R81fs*>11(1)|p.D208fs*1(1)|p.R120fs*35(1)|p.R81G(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) ACACTATGTCGAAAAGTGTTT 0.532000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 15 64 0 0 1 0 0 GUCY1B3 2983 broad.mit.edu 37 4 156698722 156698722 + Missense_Mutation SNP C C A TCGA-IQ-A61O-01A-11D-A30E-08 TCGA-IQ-A61O-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80710170-f798-4580-ba99-e8292225f095 84615bac-ab8d-4525-9501-449d895fd0c4 g.chr4:156698722C>A ENST00000264424.8 + 4 307 c.225C>A c.(223-225)ttC>ttA p.F75L GUCY1B3_ENST00000505764.1_Missense_Mutation_p.F55L|GUCY1B3_ENST00000503520.1_Missense_Mutation_p.F75L|GUCY1B3_ENST00000513437.1_Missense_Mutation_p.F7L|GUCY1B3_ENST00000505154.1_Missense_Mutation_p.F7L|GUCY1B3_ENST00000502959.1_Missense_Mutation_p.F75L|GUCY1B3_ENST00000507146.1_Missense_Mutation_p.F7L NM_000857.2 NP_000848.1 Q02153 GCYB1_HUMAN guanylate cyclase 1, soluble, beta 3 75 blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation guanylate cyclase complex, soluble|intracellular membrane-bounded organelle GTP binding|guanylate cyclase activity|receptor activity NS(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.148) AGATGTTTTTCGTCTTTTGCC 0.353000 15 99 3.35478e-16 3.94679e-16 1 1 0 SLC2A9 56606 broad.mit.edu 37 4 10027568 10027568 + Missense_Mutation SNP C C T TCGA-IQ-A61O-01A-11D-A30E-08 TCGA-IQ-A61O-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80710170-f798-4580-ba99-e8292225f095 84615bac-ab8d-4525-9501-449d895fd0c4 g.chr4:10027568C>T ENST00000506583.1 - 3 240 c.23G>A c.(22-24)cGa>cAa p.R8Q SLC2A9_ENST00000309065.3_Missense_Mutation_p.R8Q Q9NRM0 GTR9_HUMAN solute carrier family 2 (facilitated glucose transporter), member 9 0 glucose transport|urate metabolic process integral to membrane|plasma membrane sugar:hydrogen symporter activity NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1) 35 ATCTTCTCCTCGGTCCTTTTT 0.388000 4 56 0 0 1 0 0 KIF5A 3798 broad.mit.edu 37 12 57963187 57963187 + Splice_Site SNP G G A TCGA-IQ-A61O-01A-11D-A30E-08 TCGA-IQ-A61O-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80710170-f798-4580-ba99-e8292225f095 84615bac-ab8d-4525-9501-449d895fd0c4 g.chr12:57963187G>A ENST00000455537.2 + 10 1242 c.968_splice c.e10+1 p.R323_splice KIF5A_ENST00000286452.5_Splice_Site_p.R234_splice NM_004984.2 NP_004975.2 Q12840 KIF5A_HUMAN kinesin family member 5A 323 Kinesin-motor. blood coagulation|cell death|microtubule-based movement|synaptic transmission cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm ATP binding|microtubule motor activity breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2) 62 TTTGGGCAGCGGTCAGTGGCA 0.572000 24 133 0 0 1 0 0 TSSC2 650368 broad.mit.edu 37 11 3427845 3427845 + RNA SNP C C T TCGA-IQ-A61O-01A-11D-A30E-08 TCGA-IQ-A61O-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80710170-f798-4580-ba99-e8292225f095 84615bac-ab8d-4525-9501-449d895fd0c4 g.chr11:3427845C>T ENST00000529482.1 + 0 962 CTTCAAGTGGCAGGAGCAGAA 0.587000 4 60 0 0 1 0 0 WNT1 7471 broad.mit.edu 37 12 49373479 49373479 + Silent SNP C C T TCGA-IQ-A61O-01A-11D-A30E-08 TCGA-IQ-A61O-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80710170-f798-4580-ba99-e8292225f095 84615bac-ab8d-4525-9501-449d895fd0c4 g.chr12:49373479C>T ENST00000293549.3 + 2 369 c.333C>T c.(331-333)caC>caT p.H111H NM_005430.3 NP_005421.1 P04628 WNT1_HUMAN wingless-type MMTV integration site family, member 1 111 brain segmentation|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|central nervous system morphogenesis|cerebellum formation|dermatome development|diencephalon development|embryonic axis specification|forebrain anterior/posterior pattern formation|fourth ventricle development|hemopoietic stem cell proliferation|hepatocyte differentiation|inner ear morphogenesis|mesoderm morphogenesis|midbrain development|midbrain-hindbrain boundary maturation during brain development|negative regulation of cell-cell adhesion|negative regulation of cell-substrate adhesion|negative regulation of DNA damage checkpoint|negative regulation of fat cell differentiation|neuron fate determination|positive regulation of fibroblast proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of lamellipodium assembly|positive regulation of Notch signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to wounding|signal transduction in response to DNA damage|Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway, calcium modulating pathway early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix cytokine activity|frizzled-2 binding|transcription regulatory region DNA binding endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1) 11 BRCA - Breast invasive adenocarcinoma(357;0.244) CAGGGCCCCACCTCTTCGGCA 0.682000 20 46 0 0 1 0 0 MTMR4 9110 broad.mit.edu 37 17 56572427 56572427 + Missense_Mutation SNP G G A rs148437803 byFrequency TCGA-IQ-A61O-01A-11D-A30E-08 TCGA-IQ-A61O-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80710170-f798-4580-ba99-e8292225f095 84615bac-ab8d-4525-9501-449d895fd0c4 g.chr17:56572427G>A ENST00000323456.5 - 16 3200 c.3076C>T c.(3076-3078)Cgg>Tgg p.R1026W MTMR4_ENST00000579925.1_Missense_Mutation_p.R969W NM_004687.4 NP_004678.3 Q9NYA4 MTMR4_HUMAN myotubularin related protein 4 1026 cytoplasm|membrane metal ion binding|protein tyrosine phosphatase activity breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5) 36 Medulloblastoma(34;0.127)|all_neural(34;0.237) TCGATTTGCCGTAACCTATGC 0.552000 20 125 0 0 1 0 0 UBQLN3 50613 broad.mit.edu 37 11 5529680 5529680 + Missense_Mutation SNP C C T TCGA-IQ-A61O-01A-11D-A30E-08 TCGA-IQ-A61O-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80710170-f798-4580-ba99-e8292225f095 84615bac-ab8d-4525-9501-449d895fd0c4 g.chr11:5529680C>T ENST00000311659.4 - 2 1256 c.1109G>A c.(1108-1110)aGc>aAc p.S370N HBG2_ENST00000380259.2_Intron NM_017481.2 NP_059509.1 Q9H347 UBQL3_HUMAN ubiquilin 3 370 p.S370I(1) NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2) 39 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGGTTCCTGGCTTTGGCTGAG 0.542000 32 156 0 0 1 0 0 SP140 11262 broad.mit.edu 37 2 231162144 231162144 + Silent SNP G G T TCGA-IQ-A61O-01A-11D-A30E-08 TCGA-IQ-A61O-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80710170-f798-4580-ba99-e8292225f095 84615bac-ab8d-4525-9501-449d895fd0c4 g.chr2:231162144G>T ENST00000392045.3 + 22 2139 c.2025G>T c.(2023-2025)ctG>ctT p.L675L SP140_ENST00000343805.6_Silent_p.L615L|SP140_ENST00000417495.3_Silent_p.L561L|SP140_ENST00000420434.3_Silent_p.L648L|SP140_ENST00000486687.2_Silent_p.L599L|SP140_ENST00000350136.5_Silent_p.L544L NM_007237.4 NP_009168.4 Q13342 LY10_HUMAN SP140 nuclear body protein 675 defense response cytoplasm|nuclear envelope|nucleolus|nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1) 12 Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) AGAGAATACTGAAGTCTCAAA 0.338000 17 28 5.01169e-05 5.34581e-05 1 1 0 GCN1L1 10985 broad.mit.edu 37 12 120615320 120615320 + Silent SNP T T C TCGA-IQ-A61O-01A-11D-A30E-08 TCGA-IQ-A61O-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80710170-f798-4580-ba99-e8292225f095 84615bac-ab8d-4525-9501-449d895fd0c4 g.chr12:120615320T>C ENST00000300648.6 - 9 780 c.768A>G c.(766-768)tcA>tcG p.S256S NM_006836.1 NP_006827.1 Q92616 GCN1L_HUMAN GCN1 general control of amino-acid synthesis 1-like 1 (yeast) 256 regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 94 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CCTTAAATTCTGAGTGGGACA 0.473000 4 49 0 0 1 0 0 SLC6A12 6539 broad.mit.edu 37 12 313743 313743 + Silent SNP G G A TCGA-IQ-A61O-01A-11D-A30E-08 TCGA-IQ-A61O-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80710170-f798-4580-ba99-e8292225f095 84615bac-ab8d-4525-9501-449d895fd0c4 g.chr12:313743G>A ENST00000428720.1 - 4 1079 c.336C>T c.(334-336)tgC>tgT p.C112C RP11-283I3.2_ENST00000539568.1_RNA|SLC6A12_ENST00000397296.2_Silent_p.C112C|SLC6A12_ENST00000359674.4_Silent_p.C112C|SLC6A12_ENST00000424061.2_Silent_p.C112C|SLC6A12_ENST00000536824.1_Silent_p.C112C NM_001122848.2 NP_001116320.1 P48065 S6A12_HUMAN solute carrier family 6 (neurotransmitter transporter), member 12 112 cellular nitrogen compound metabolic process|neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 26 all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142) OV - Ovarian serous cystadenocarcinoma(31;0.00227) GGAAGAGGGGGCAGATCTTCC 0.602000 17 46 0 0 1 0 0 AQP7 364 broad.mit.edu 37 9 33385614 33385614 + Missense_Mutation SNP A A T rs140995428 by1000genomes TCGA-IQ-A61O-01A-11D-A30E-08 TCGA-IQ-A61O-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80710170-f798-4580-ba99-e8292225f095 84615bac-ab8d-4525-9501-449d895fd0c4 g.chr9:33385614A>T ENST00000541274.1 - 5 830 c.381T>A c.(379-381)agT>agA p.S127R AQP7_ENST00000377425.4_Intron|AQP7_ENST00000539936.1_3'UTR|AQP7_ENST00000537089.1_3'UTR O14520 AQP7_HUMAN aquaporin 7 0 excretion|generation of precursor metabolites and energy cell-cell junction|cytoplasm|integral to plasma membrane glycerol channel activity|water channel activity NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1) 17 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.191) CCACAGAAAAACTCAAAGGAA 0.632000 4 117 0 0 1 0 0 KRI1 65095 broad.mit.edu 37 19 10668562 10668562 + Missense_Mutation SNP C C T rs144833930 byFrequency TCGA-IQ-A61O-01A-11D-A30E-08 TCGA-IQ-A61O-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80710170-f798-4580-ba99-e8292225f095 84615bac-ab8d-4525-9501-449d895fd0c4 g.chr19:10668562C>T ENST00000312962.6 - 15 1406 c.1387G>A c.(1387-1389)Gac>Aac p.D463N KRI1_ENST00000361821.5_Missense_Mutation_p.D459N NM_023008.3 NP_075384.3 Q8N9T8 KRI1_HUMAN KRI1 homolog (S. cerevisiae) 463 NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 26 Epithelial(33;9.2e-06)|all cancers(31;3.9e-05) GGGTCGTAGTCGGCGTCCATC 0.657000 10 33 0 0 1 0 0 ITGA7 3679 broad.mit.edu 37 12 56078994 56078994 + Nonsense_Mutation SNP G G A TCGA-IQ-A61O-01A-11D-A30E-08 TCGA-IQ-A61O-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80710170-f798-4580-ba99-e8292225f095 84615bac-ab8d-4525-9501-449d895fd0c4 g.chr12:56078994G>A ENST00000257879.6 - 25 3477 c.3262C>T c.(3262-3264)Cga>Tga p.R1088* ITGA7_ENST00000555728.1_Nonsense_Mutation_p.R1132*|ITGA7_ENST00000394230.2_3'UTR|ITGA7_ENST00000553804.1_Nonsense_Mutation_p.R1092*|ITGA7_ENST00000394229.2_3'UTR|ITGA7_ENST00000347027.6_Nonsense_Mutation_p.R1082*|ITGA7_ENST00000257880.7_3'UTR|ITGA7_ENST00000452168.2_Nonsense_Mutation_p.R995* NM_002206.2 NP_002197.2 Q13683 ITA7_HUMAN integrin, alpha 7 1132 cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape integrin complex receptor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 AACTGCTGTCGGTCTTCCCGA 0.627000 17 78 0 0 1 0 0 HIVEP3 59269 broad.mit.edu 37 1 42046798 42046798 + Missense_Mutation SNP A A G TCGA-IQ-A61O-01A-11D-A30E-08 TCGA-IQ-A61O-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80710170-f798-4580-ba99-e8292225f095 84615bac-ab8d-4525-9501-449d895fd0c4 g.chr1:42046798A>G ENST00000372584.1 - 3 4685 c.3671T>C c.(3670-3672)cTc>cCc p.L1224P HIVEP3_ENST00000247584.5_Missense_Mutation_p.L1224P|HIVEP3_ENST00000372583.1_Missense_Mutation_p.L1224P|HIVEP3_ENST00000429157.2_Missense_Mutation_p.L1224P NM_001127714.2 NP_001121186.1 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer binding protein 3 1224 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 85 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) TGGCATGGGGAGGAAGGAAGG 0.582000 7 93 0 0 1 0 0 NF1 4763 broad.mit.edu 37 17 29508730 29508730 + Silent SNP A A G TCGA-IQ-A61O-01A-11D-A30E-08 TCGA-IQ-A61O-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80710170-f798-4580-ba99-e8292225f095 84615bac-ab8d-4525-9501-449d895fd0c4 g.chr17:29508730A>G ENST00000358273.4 + 7 1040 c.657A>G c.(655-657)gcA>gcG p.A219A NF1_ENST00000431387.4_Silent_p.A219A|NF1_ENST00000356175.3_Silent_p.A219A NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 219 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.0?(8)|p.?(4) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) ATTTATAGGCATTTTGGAACT 0.299000 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 14 46 0 0 1 0 0 SMARCA4 6597 broad.mit.edu 37 19 11144112 11144112 + Silent SNP C C T TCGA-IQ-A61O-01A-11D-A30E-08 TCGA-IQ-A61O-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80710170-f798-4580-ba99-e8292225f095 84615bac-ab8d-4525-9501-449d895fd0c4 g.chr19:11144112C>T ENST00000358026.2 + 26 3977 c.3693C>T c.(3691-3693)gcC>gcT p.A1231A SMARCA4_ENST00000541122.2_Silent_p.A1231A|SMARCA4_ENST00000590574.1_Silent_p.A1231A|SMARCA4_ENST00000589677.1_Silent_p.A1231A|SMARCA4_ENST00000444061.3_Silent_p.A1231A|SMARCA4_ENST00000450717.3_Silent_p.A1231A|SMARCA4_ENST00000429416.3_Silent_p.A1231A|SMARCA4_ENST00000344626.4_Silent_p.A1231A|SMARCA4_ENST00000413806.3_Silent_p.A1231A NM_001128849.1 NP_001122321.1 P51532 SMCA4_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 1231 Helicase C-terminal. chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity p.?(1) adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 163 all_lung(6;0.0512)|Lung NSC(9;0.0568) TGATCCAGGCCGGCATGTTCG 0.632000 """F, N, Mis""" NSCLC 19 181 0 0 1 0 0 CDC42EP2 10435 broad.mit.edu 37 11 65088450 65088450 + Silent SNP G G A rs141215100 byFrequency TCGA-IQ-A61O-01A-11D-A30E-08 TCGA-IQ-A61O-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80710170-f798-4580-ba99-e8292225f095 84615bac-ab8d-4525-9501-449d895fd0c4 g.chr11:65088450G>A ENST00000544348.1 + 2 687 c.81G>A c.(79-81)tcG>tcA p.S27S CDC42EP2_ENST00000533419.1_Silent_p.S27S|CDC42EP2_ENST00000279249.2_Silent_p.S27S O14613 BORG1_HUMAN CDC42 effector protein (Rho GTPase binding) 2 27 actin filament organization|positive regulation of actin filament polymerization|positive regulation of pseudopodium assembly|regulation of cell shape cytoplasm|cytoskeleton|endomembrane system|plasma membrane GTP-Rho binding|Rho GTPase activator activity lung(1) 1 TGCTGTCCTCGGACATGATCA 0.602000 21 56 0 0 1 0 0 CCDC88B 283234 broad.mit.edu 37 11 64112385 64112385 + Missense_Mutation SNP C C T TCGA-IQ-A61O-01A-11D-A30E-08 TCGA-IQ-A61O-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80710170-f798-4580-ba99-e8292225f095 84615bac-ab8d-4525-9501-449d895fd0c4 g.chr11:64112385C>T ENST00000356786.5 + 14 2416 c.2372C>T c.(2371-2373)gCc>gTc p.A791V CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000301897.4_5'UTR NM_032251.5 NP_115627.6 A6NC98 CC88B_HUMAN coiled-coil domain containing 88B 791 microtubule cytoskeleton organization cytoplasm microtubule binding endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 TGGGAGCAAGCCCGGCTGCGG 0.731000 3 39 0 0 1 0 0 LOC101928372 101928372 broad.mit.edu 37 1 160905975 160905975 + RNA DEL T T - TCGA-IQ-A61O-01A-11D-A30E-08 TCGA-IQ-A61O-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80710170-f798-4580-ba99-e8292225f095 84615bac-ab8d-4525-9501-449d895fd0c4 g.chr1:160905975delT ENST00000356006.3 + 0 629 cttcttcttcttttttttttt 0.393 3 6 --- --- --- --- H3F3AP4 440926 broad.mit.edu 37 2 175585079 175585079 + RNA DEL A A - TCGA-IQ-A61O-01A-11D-A30E-08 TCGA-IQ-A61O-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80710170-f798-4580-ba99-e8292225f095 84615bac-ab8d-4525-9501-449d895fd0c4 g.chr2:175585079delA ENST00000442996.1 + 0 217 TTTCATTCTCAAAAAAAAAAA 0.368 OREG0015078 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 5 --- --- --- --- CPOX 1371 broad.mit.edu 37 3 98243869 98243871 + RNA DEL TTG TTG - TCGA-IQ-A61O-01A-11D-A30E-08 TCGA-IQ-A61O-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80710170-f798-4580-ba99-e8292225f095 84615bac-ab8d-4525-9501-449d895fd0c4 g.chr3:98243869_98243871delTTG ENST00000502999.1 + 0 264 TTTTTTTTTTTTGTATTCTAATA 0.320 2 4 --- --- --- --- MORC1 27136 broad.mit.edu 37 3 108682418 108682419 + Frame_Shift_Ins INS - - T TCGA-IQ-A61O-01A-11D-A30E-08 TCGA-IQ-A61O-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80710170-f798-4580-ba99-e8292225f095 84615bac-ab8d-4525-9501-449d895fd0c4 g.chr3:108682418_108682419insT ENST00000232603.5 - 27 2723_2724 c.2641_2642insA c.(2641-2643)aaafs p.K881fs MORC1_ENST00000483760.1_Frame_Shift_Ins_p.K860fs NM_014429.3 NP_055244.3 Q86VD1 MORC1_HUMAN MORC family CW-type zinc finger 1 881 cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 105 TTTCCTCTTTATTTTTTTTTCA 0.287 7 69 --- --- --- --- EIF2A 83939 broad.mit.edu 37 3 150299510 150299510 + Frame_Shift_Del DEL A A - TCGA-IQ-A61O-01A-11D-A30E-08 TCGA-IQ-A61O-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80710170-f798-4580-ba99-e8292225f095 84615bac-ab8d-4525-9501-449d895fd0c4 g.chr3:150299510delA ENST00000460851.1 + 12 1712 c.1603delA c.(1603-1605)aafs p.K536fs SERP1_ENST00000490945.1_Intron|EIF2A_ENST00000383043.3_Frame_Shift_Del_p.K322fs|SERP1_ENST00000479209.1_Intron|EIF2A_ENST00000406576.3_Frame_Shift_Del_p.K475fs|EIF2A_ENST00000273435.5_Frame_Shift_Del_p.K531fs|EIF2A_ENST00000487799.1_Frame_Shift_Del_p.K511fs|EIF2A_ENST00000482471.1_3'UTR Q9BY44 EIF2A_HUMAN eukaryotic translation initiation factor 2A, 65kDa 536 regulation of translation|ribosome assembly eukaryotic translation initiation factor 2 complex ribosome binding|translation initiation factor activity|tRNA binding cervix(1)|endometrium(2)|kidney(1)|lung(3) 7 Melanoma(1037;0.0575) LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066) TGAGATAGACAAAAAAATCAA 0.403 2 4 --- --- --- --- FGFRL1 53834 broad.mit.edu 37 4 1019055 1019056 + Frame_Shift_Del DEL CA CA - TCGA-IQ-A61O-01A-11D-A30E-08 TCGA-IQ-A61O-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80710170-f798-4580-ba99-e8292225f095 84615bac-ab8d-4525-9501-449d895fd0c4 g.chr4:1019055_1019056delCA ENST00000398484.2 + 8 2015_2016 c.1435_1436delCA c.(1435-1437)cfs p.H479fs FGFRL1_ENST00000264748.6_Frame_Shift_Del_p.H479fs|FGFRL1_ENST00000504138.1_Frame_Shift_Del_p.H479fs|FGFRL1_ENST00000510644.1_Frame_Shift_Del_p.H479fs Q8N441 FGRL1_HUMAN fibroblast growth factor receptor-like 1 479 His-rich. regulation of cell growth integral to membrane|plasma membrane fibroblast growth factor receptor activity|heparin binding endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1) 13 OV - Ovarian serous cystadenocarcinoma(23;0.0158) cacagacatccacacacacaca 0.584 4 9 --- --- --- --- CFI 3426 broad.mit.edu 37 4 110662159 110662159 + Frame_Shift_Del DEL C C - rs7437875 byFrequency TCGA-IQ-A61O-01A-11D-A30E-08 TCGA-IQ-A61O-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80710170-f798-4580-ba99-e8292225f095 84615bac-ab8d-4525-9501-449d895fd0c4 g.chr4:110662159delC ENST00000394634.2 - 13 1849 c.1642delG c.(1642-1644)aafs p.E548fs CFI_ENST00000394635.3_Frame_Shift_Del_p.E556fs|CFI_ENST00000512148.1_Frame_Shift_Del_p.E541fs NM_000204.3 NP_000195.2 P05156 CFAI_HUMAN complement factor I 548 Peptidase S1. complement activation, classical pathway|innate immune response|proteolysis extracellular space|membrane scavenger receptor activity|serine-type endopeptidase activity breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1) 27 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000331) CCACAGTTTTCCCCCCAACTC 0.463 7 393 --- --- --- --- PARP12 64761 broad.mit.edu 37 7 139762592 139762592 + Frame_Shift_Del DEL C C - TCGA-IQ-A61O-01A-11D-A30E-08 TCGA-IQ-A61O-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80710170-f798-4580-ba99-e8292225f095 84615bac-ab8d-4525-9501-449d895fd0c4 g.chr7:139762592delC ENST00000263549.3 - 1 929 c.56delG c.(55-57)gcfs p.G19fs NM_022750.2 NP_073587.1 Q9H0J9 PAR12_HUMAN poly (ADP-ribose) polymerase family, member 12 19 nucleus NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1) 19 Melanoma(164;0.0142) CTCCAGGGCGCCCCCGGCCGC 0.781 2 4 --- --- --- --- ADCK5 203054 broad.mit.edu 37 8 145617535 145617549 + Splice_Site DEL GGGGGTGCAAGGTGA GGGGGTGCAAGGTGA - rs11270020 TCGA-IQ-A61O-01A-11D-A30E-08 TCGA-IQ-A61O-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80710170-f798-4580-ba99-e8292225f095 84615bac-ab8d-4525-9501-449d895fd0c4 g.chr8:145617535_145617549delGGGGGTGCAAGGTGA ENST00000308860.6 + 12 1301_1311 c.1267_splice c.e12+1 p.L419_splice NM_174922.3 NP_777582.3 Q3MIX3 ADCK5_HUMAN aarF domain containing kinase 5 419 Protein kinase. integral to membrane protein serine/threonine kinase activity p.?(2) endometrium(1)|lung(2)|prostate(2)|skin(1)|stomach(2) 8 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055) CAGCCGCACTGGGGGTGCAAGGTGAGGGGGTGCAA 0.730 4 4 --- --- --- --- FOXD4 2298 broad.mit.edu 37 9 117406 117407 + Frame_Shift_Ins INS - - G TCGA-IQ-A61O-01A-11D-A30E-08 TCGA-IQ-A61O-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80710170-f798-4580-ba99-e8292225f095 84615bac-ab8d-4525-9501-449d895fd0c4 g.chr9:117406_117407insG ENST00000382500.2 - 1 1010_1011 c.713_714insC c.(712-714)cccfs p.P238fs NM_207305.4 NP_997188.2 Q12950 FOXD4_HUMAN forkhead box D4 238 Pro-rich. axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3) 14 all_lung(41;0.218) all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06) Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157) all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154) CTGGCTGCGGCGGGGCAGGGGC 0.743 10 220 --- --- --- --- TMPRSS4-AS1 100526771 broad.mit.edu 37 11 117936783 117936783 + RNA DEL C C - TCGA-IQ-A61O-01A-11D-A30E-08 TCGA-IQ-A61O-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80710170-f798-4580-ba99-e8292225f095 84615bac-ab8d-4525-9501-449d895fd0c4 g.chr11:117936783delC ENST00000606951.1 - 0 43 TMPRSS4-AS1_ENST00000527329.1_RNA|TMPRSS4-AS1_ENST00000527695.1_RNA NR_038318.1 AGCCACAGGACCCCCCGGACG 0.607 4 4 --- --- --- --- RP11-114H23.1 0 broad.mit.edu 37 12 76082490 76082491 + RNA INS - - T rs141632958 TCGA-IQ-A61O-01A-11D-A30E-08 TCGA-IQ-A61O-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80710170-f798-4580-ba99-e8292225f095 84615bac-ab8d-4525-9501-449d895fd0c4 g.chr12:76082490_76082491insT ENST00000552856.1 - 0 401 cattctTTTTCTTTTTTTTTTT 0.361 3 4 --- --- --- --- CTD-3037G24.3 0 broad.mit.edu 37 16 12681794 12681795 + RNA INS - - TC rs34536364 by1000genomes TCGA-IQ-A61O-01A-11D-A30E-08 TCGA-IQ-A61O-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80710170-f798-4580-ba99-e8292225f095 84615bac-ab8d-4525-9501-449d895fd0c4 g.chr16:12681794_12681795insTC ENST00000564505.1 - 0 307 GGGGGTGATAGtctgtcaccca 0.480 3 4 --- --- --- --- TRIOBP 11078 broad.mit.edu 37 22 38142400 38142400 + Frame_Shift_Del DEL C C - TCGA-IQ-A61O-01A-11D-A30E-08 TCGA-IQ-A61O-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80710170-f798-4580-ba99-e8292225f095 84615bac-ab8d-4525-9501-449d895fd0c4 g.chr22:38142400delC ENST00000403663.2 + 1 161 c.156delC c.(154-156)ctfs p.L52fs TRIOBP_ENST00000406386.3_Intron|RP1-37E16.12_ENST00000455236.1_RNA|TRIOBP_ENST00000407319.2_Frame_Shift_Del_p.L52fs NM_007032.5 NP_008963.3 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 1765 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) GCCTCCTGCTCCCGCCGCCCT 0.816 2 4 --- --- --- --- APOBEC3G 60489 broad.mit.edu 37 22 39477512 39477513 + Frame_Shift_Del DEL AA AA - TCGA-IQ-A61O-01A-11D-A30E-08 TCGA-IQ-A61O-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80710170-f798-4580-ba99-e8292225f095 84615bac-ab8d-4525-9501-449d895fd0c4 g.chr22:39477512_39477513delAA ENST00000407997.3 + 4 860_861 c.503_504delAA c.(502-504)cfs p.Q168fs APOBEC3G_ENST00000461827.1_3'UTR|APOBEC3G_ENST00000452957.2_Frame_Shift_Del_p.Q168fs NM_021822.3 NP_068594.1 apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G central_nervous_system(1)|large_intestine(4)|lung(5)|skin(1)|stomach(1) 12 Melanoma(58;0.04) GTGTACAGCCAAAGAGAGCTAT 0.480 46 150 --- --- --- --- TXLNGY 246126 broad.mit.edu 37 Y 21758039 21758039 + RNA DEL A A - TCGA-IQ-A61O-01A-11D-A30E-08 TCGA-IQ-A61O-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80710170-f798-4580-ba99-e8292225f095 84615bac-ab8d-4525-9501-449d895fd0c4 g.chrY:21758039delA ENST00000253320.4 + 0 3120 Q9BZA5 CY15A_HUMAN haematopoietic_and_lymphoid_tissue(1) 1 TACTTCTTGGAAAAAAAAAAA 0.378 3 6 --- --- --- ---