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 FRMPD2 143162 broad.mit.edu 37 10 49430493 49430493 + Splice_Site SNP G G T rs144515014 TCGA-KK-A8IA-01A-11D-A364-08 TCGA-KK-A8IA-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4302b78b-6ed4-42e0-b730-520da1966483 48663fd9-664b-4ba1-a992-df8b0bc460e8 g.chr10:49430493G>T ENST00000374201.3 - 12 1620 c.1316_splice c.e12-1 p.H440_splice FRMPD2_ENST00000305531.3_Splice_Site_p.H416_splice|FRMPD2_ENST00000407470.4_Splice_Site_p.H409_splice NM_001018071.3 NP_001018081.3 Q68DX3 FRPD2_HUMAN FERM and PDZ domain containing 2 440 FERM. tight junction assembly basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction 1-phosphatidylinositol binding|protein binding NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 66 Kidney(211;0.201) GTCAGGCTGTGCCTGGAAAAG 0.498000 3 52 0.115264 0.115264 1 1 0 TTN 7273 broad.mit.edu 37 2 179432010 179432010 + Silent SNP T T G TCGA-KK-A8IA-01A-11D-A364-08 TCGA-KK-A8IA-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4302b78b-6ed4-42e0-b730-520da1966483 48663fd9-664b-4ba1-a992-df8b0bc460e8 g.chr2:179432010T>G ENST00000589042.1 - 326 79073 c.78849A>C c.(78847-78849)gtA>gtC p.V26283V TTN_ENST00000342175.6_Silent_p.V17410V|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Silent_p.V17343V|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000460472.2_Silent_p.V17218V|TTN_ENST00000591111.1_Silent_p.V24642V|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Silent_p.V23715V|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 24642 Fibronectin type-III 91. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GTCTATCTAATACTTTTACAT 0.403000 4 102 0 0 1 0 0 SRRM4 84530 broad.mit.edu 37 12 119583287 119583287 + Silent SNP G G A TCGA-KK-A8IA-01A-11D-A364-08 TCGA-KK-A8IA-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4302b78b-6ed4-42e0-b730-520da1966483 48663fd9-664b-4ba1-a992-df8b0bc460e8 g.chr12:119583287G>A ENST00000267260.4 + 9 1261 c.873G>A c.(871-873)acG>acA p.T291T NM_194286.3 NP_919262.2 A7MD48 SRRM4_HUMAN serine/arginine repetitive matrix 4 291 Ser-rich. cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing nucleus mRNA binding p.T291T(2) breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1) 24 GAAATGACACGTCCTCGCCAC 0.632000 4 7 0 0 1 0 0 FOXD4L1 200350 broad.mit.edu 37 2 114256921 114256921 + Silent SNP C C T TCGA-KK-A8IA-01A-11D-A364-08 TCGA-KK-A8IA-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4302b78b-6ed4-42e0-b730-520da1966483 48663fd9-664b-4ba1-a992-df8b0bc460e8 g.chr2:114256921C>T ENST00000306507.5 + 1 261 c.88C>T c.(88-90)Ctg>Ttg p.L30L NM_012184.4 NP_036316.1 Q9NU39 FX4L1_HUMAN forkhead box D4-like 1 30 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 NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(2) 26 AATCGATGTCCTGGGAgagga 0.642000 4 90 0 0 1 0 0 ATMIN 23300 broad.mit.edu 37 16 81078137 81078137 + Silent SNP C C T TCGA-KK-A8IA-01A-11D-A364-08 TCGA-KK-A8IA-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4302b78b-6ed4-42e0-b730-520da1966483 48663fd9-664b-4ba1-a992-df8b0bc460e8 g.chr16:81078137C>T ENST00000566488.1 + 3 2529 c.1566C>T c.(1564-1566)ctC>ctT p.L522L ATMIN_ENST00000564241.1_Silent_p.L522L|ATMIN_ENST00000539819.1_3'UTR|ATMIN_ENST00000299575.4_Silent_p.L678L O43313 ATMIN_HUMAN ATM interactor 678 response to DNA damage stimulus nucleus zinc ion binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 20 ACTTCTTACTCGCAGATACCT 0.448000 44 22 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9083587 9083587 + Missense_Mutation SNP G G A TCGA-KK-A8IA-01A-11D-A364-08 TCGA-KK-A8IA-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4302b78b-6ed4-42e0-b730-520da1966483 48663fd9-664b-4ba1-a992-df8b0bc460e8 g.chr19:9083587G>A ENST00000397910.4 - 1 8431 c.8228C>T c.(8227-8229)tCg>tTg p.S2743L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 2743 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.S2743L(2) NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CACTGTGATCGAACCTTCATA 0.468000 6 73 0 0 1 0 0 OR5P3 120066 broad.mit.edu 37 11 7846597 7846597 + Missense_Mutation SNP T T C TCGA-KK-A8IA-01A-11D-A364-08 TCGA-KK-A8IA-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4302b78b-6ed4-42e0-b730-520da1966483 48663fd9-664b-4ba1-a992-df8b0bc460e8 g.chr11:7846597T>C ENST00000328375.1 - 1 922 c.923A>G c.(922-924)aAa>aGa p.K308R RP11-35J10.5_ENST00000527565.1_lincRNA NM_153445.1 NP_703146.1 Q8WZ94 OR5P3_HUMAN olfactory receptor, family 5, subfamily P, member 3 308 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1) 15 Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) AGAAAATATTTTTATTCTAAG 0.348000 3 50 0 0 1 0 0 RAC3 5881 broad.mit.edu 37 17 79990859 79990859 + Missense_Mutation SNP G G A TCGA-KK-A8IA-01A-11D-A364-08 TCGA-KK-A8IA-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4302b78b-6ed4-42e0-b730-520da1966483 48663fd9-664b-4ba1-a992-df8b0bc460e8 g.chr17:79990859G>A ENST00000306897.4 + 4 400 c.262G>A c.(262-264)Gcc>Acc p.A88T NM_005052.2 NP_005043.1 P60763 RAC3_HUMAN ras-related C3 botulinum toxin substrate 3 (rho family, small GTP binding protein Rac3) 88 actin cytoskeleton organization|cell projection assembly|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|endomembrane system|filamentous actin|growth cone|lamellipodium|neuronal cell body|plasma membrane GTP binding|GTPase activity|protein binding NS(1)|kidney(1)|skin(1) 3 all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191) GGTGAGCCCGGCCTCCTTCGA 0.622000 20 32 0 0 1 0 0 HMCN1 83872 broad.mit.edu 37 1 186088390 186088390 + Silent SNP G G A TCGA-KK-A8IA-01A-11D-A364-08 TCGA-KK-A8IA-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4302b78b-6ed4-42e0-b730-520da1966483 48663fd9-664b-4ba1-a992-df8b0bc460e8 g.chr1:186088390G>A ENST00000271588.4 + 78 12145 c.11916G>A c.(11914-11916)gcG>gcA p.A3972A HMCN1_ENST00000367492.2_Silent_p.A3972A NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 3972 Ig-like C2-type 38. response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 CTAGGAATGCGGCTGGCTCTG 0.398000 46 64 0 0 1 0 0 VPS16 64601 broad.mit.edu 37 20 2843245 2843245 + Silent SNP C C T TCGA-KK-A8IA-01A-11D-A364-08 TCGA-KK-A8IA-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4302b78b-6ed4-42e0-b730-520da1966483 48663fd9-664b-4ba1-a992-df8b0bc460e8 g.chr20:2843245C>T ENST00000380445.3 + 12 1164 c.1092C>T c.(1090-1092)gaC>gaT p.D364D VPS16_ENST00000380443.3_Silent_p.D18D|VPS16_ENST00000380469.3_Intron|VPS16_ENST00000481812.2_Intron NM_022575.2 NP_072097.2 Q9H269 VPS16_HUMAN vacuolar protein sorting 16 homolog (S. cerevisiae) 364 intracellular protein transport early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 37 AGAAGGCGGACGAGTACCTGC 0.602000 16 14 0 0 1 0 0 MC3R 4159 broad.mit.edu 37 20 54824819 54824819 + Missense_Mutation SNP G G A TCGA-KK-A8IA-01A-11D-A364-08 TCGA-KK-A8IA-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4302b78b-6ed4-42e0-b730-520da1966483 48663fd9-664b-4ba1-a992-df8b0bc460e8 g.chr20:54824819G>A ENST00000243911.2 + 1 1032 c.920G>A c.(919-921)cGc>cAc p.R307H NM_019888.3 NP_063941.3 P41968 MC3R_HUMAN melanocortin 3 receptor 344 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1) 26 Colorectal(105;0.202) CTGGAATTGCGCAACACCTTT 0.517000 4 139 0 0 1 0 0 NAA15 80155 broad.mit.edu 37 4 140265373 140265373 + Missense_Mutation SNP G G A TCGA-KK-A8IA-01A-11D-A364-08 TCGA-KK-A8IA-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4302b78b-6ed4-42e0-b730-520da1966483 48663fd9-664b-4ba1-a992-df8b0bc460e8 g.chr4:140265373G>A ENST00000296543.5 + 6 894 c.571G>A c.(571-573)Gaa>Aaa p.E191K NAA15_ENST00000398947.1_Missense_Mutation_p.E191K|NAA15_ENST00000480277.2_3'UTR NM_057175.3 NP_476516.1 Q9BXJ9 NAA15_HUMAN N(alpha)-acetyltransferase 15, NatA auxiliary subunit 191 angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|transcription factor complex protein binding NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 TGAATATAGTGAACTACTCTT 0.333000 19 82 0 0 1 0 0 SHANK1 50944 broad.mit.edu 37 19 51165266 51165266 + Missense_Mutation SNP G G A TCGA-KK-A8IA-01A-11D-A364-08 TCGA-KK-A8IA-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4302b78b-6ed4-42e0-b730-520da1966483 48663fd9-664b-4ba1-a992-df8b0bc460e8 g.chr19:51165266G>A ENST00000293441.1 - 23 6460 c.6442C>T c.(6442-6444)Cgc>Tgc p.R2148C SYT3_ENST00000544769.1_Intron|SHANK1_ENST00000359082.3_Missense_Mutation_p.R2139C|SHANK1_ENST00000391813.1_Missense_Mutation_p.R1535C|SHANK1_ENST00000391814.1_Missense_Mutation_p.R2156C NM_016148.2 NP_057232.2 Q9Y566 SHAN1_HUMAN SH3 and multiple ankyrin repeat domains 1 2148 SAM. cytoskeletal anchoring at plasma membrane cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane ionotropic glutamate receptor binding breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 64 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199) ATGTTCATGCGGTGGCCCACC 0.622000 18 41 0 0 1 0 0 NSMAF 8439 broad.mit.edu 37 8 59511849 59511849 + Missense_Mutation SNP C C G TCGA-KK-A8IA-01A-11D-A364-08 TCGA-KK-A8IA-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4302b78b-6ed4-42e0-b730-520da1966483 48663fd9-664b-4ba1-a992-df8b0bc460e8 g.chr8:59511849C>G ENST00000038176.3 - 19 1739 c.1527G>C c.(1525-1527)tgG>tgC p.W509C NSMAF_ENST00000427130.2_Missense_Mutation_p.W540C NM_003580.3 NP_003571.2 Q92636 FAN_HUMAN neutral sphingomyelinase (N-SMase) activation associated factor 509 BEACH. ceramide metabolic process cytoplasm|soluble fraction protein binding|receptor signaling protein activity p.W509C(1)|p.W540C(1) autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 38 all_lung(136;0.174)|Lung NSC(129;0.2) TTAGATCAATCCACTCGTGAA 0.373000 4 204 0 0 1 0 0 CACNA1D 776 broad.mit.edu 37 3 53809970 53809970 + Silent SNP C C T TCGA-KK-A8IA-01A-11D-A364-08 TCGA-KK-A8IA-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4302b78b-6ed4-42e0-b730-520da1966483 48663fd9-664b-4ba1-a992-df8b0bc460e8 g.chr3:53809970C>T ENST00000288139.3 + 36 4438 c.4320C>T c.(4318-4320)ctC>ctT p.L1440L CACNA1D_ENST00000350061.5_Silent_p.L1420L|CACNA1D_ENST00000422281.2_Silent_p.L1405L|CACNA1D_ENST00000540742.1_Silent_p.L312L NM_000720.2 NP_000711.1 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, alpha 1D subunit 1420 Dihydropyridine binding (By similarity).|Phenylalkylamine binding (By similarity). axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 90 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) CAGGGAAGCTCTGTGACCCTG 0.493000 50 76 0 0 1 0 0 FILIP1 27145 broad.mit.edu 37 6 76023240 76023240 + Missense_Mutation SNP G G A TCGA-KK-A8IA-01A-11D-A364-08 TCGA-KK-A8IA-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4302b78b-6ed4-42e0-b730-520da1966483 48663fd9-664b-4ba1-a992-df8b0bc460e8 g.chr6:76023240G>A ENST00000393004.2 - 5 2529 c.2308C>T c.(2308-2310)Ctc>Ttc p.L770F FILIP1_ENST00000237172.7_Missense_Mutation_p.L770F|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000370020.1_Missense_Mutation_p.L671F Q7Z7B0 FLIP1_HUMAN filamin A interacting protein 1 770 breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4) 80 GTCAGATTGAGAACCTCCTGC 0.433000 35 58 0 0 1 0 0 SEC1P 0 broad.mit.edu 37 19 49183691 49183691 + RNA SNP G G A TCGA-KK-A8IA-01A-11D-A364-08 TCGA-KK-A8IA-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4302b78b-6ed4-42e0-b730-520da1966483 48663fd9-664b-4ba1-a992-df8b0bc460e8 g.chr19:49183691G>A ENST00000430145.2 + 0 778 NR_004401.2 GCCACATCCCGGGGCGCTGTG 0.657000 7 10 0 0 1 0 0 ECI2 10455 broad.mit.edu 37 6 4130794 4130794 + Splice_Site SNP C C A TCGA-KK-A8IA-01A-11D-A364-08 TCGA-KK-A8IA-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4302b78b-6ed4-42e0-b730-520da1966483 48663fd9-664b-4ba1-a992-df8b0bc460e8 g.chr6:4130794C>A ENST00000465828.1 - 4 508 c.222_splice c.e4-1 p.E75_splice C6orf201_ENST00000333388.5_3'UTR|ECI2_ENST00000413766.2_5'UTR|ECI2_ENST00000361538.2_Splice_Site_p.E75_splice|C6orf201_ENST00000380175.4_3'UTR|ECI2_ENST00000380118.3_Splice_Site_p.E105_splice|ECI2_ENST00000380125.2_Splice_Site_p.E75_splice O75521 ECI2_HUMAN enoyl-CoA delta isomerase 2 105 ACB. fatty acid metabolic process mitochondrion|peroxisomal matrix dodecenoyl-CoA delta-isomerase activity|fatty-acyl-CoA binding endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1) 11 CTGGCAGCTTCCTGAACGGAC 0.438000 20 35 1.9806e-07 2.0971e-07 1 1 0 PNKP 11284 broad.mit.edu 37 19 50365803 50365803 + Missense_Mutation SNP C C G TCGA-KK-A8IA-01A-11D-A364-08 TCGA-KK-A8IA-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4302b78b-6ed4-42e0-b730-520da1966483 48663fd9-664b-4ba1-a992-df8b0bc460e8 g.chr19:50365803C>G ENST00000322344.3 - 10 1037 c.928G>C c.(928-930)Gat>Cat p.D310H PNKP_ENST00000596014.1_Missense_Mutation_p.D310H|PNKP_ENST00000600573.1_Missense_Mutation_p.D310H|PNKP_ENST00000600910.1_Missense_Mutation_p.D310H NM_007254.3 NP_009185.2 Q96T60 PNKP_HUMAN polynucleotide kinase 3'-phosphatase 310 DNA damage response, detection of DNA damage|DNA-dependent DNA replication|nucleotide-excision repair, DNA damage removal|response to oxidative stress|response to radiation nucleolus ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|damaged DNA binding|double-stranded DNA binding|endonuclease activity|nucleotide kinase activity|polynucleotide 3'-phosphatase activity|protein binding breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1) 19 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134) ACCAGGCGATCGGCGCAGGAG 0.687000 Other BER factors 4 5 0 0 1 0 0 POM121L12 285877 broad.mit.edu 37 7 53103840 53103840 + Missense_Mutation SNP G G A TCGA-KK-A8IA-01A-11D-A364-08 TCGA-KK-A8IA-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4302b78b-6ed4-42e0-b730-520da1966483 48663fd9-664b-4ba1-a992-df8b0bc460e8 g.chr7:53103840G>A ENST00000408890.4 + 1 492 c.476G>A c.(475-477)cGc>cAc p.R159H NM_182595.3 NP_872401.3 Q8N7R1 P1L12_HUMAN POM121 transmembrane nucleoporin-like 12 159 p.R159H(1) endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 61 CAGAGAgcccgccccgcaggc 0.726000 11 7 0 0 1 0 0 TTC21A 199223 broad.mit.edu 37 3 39174617 39174617 + Silent SNP A A G TCGA-KK-A8IA-01A-11D-A364-08 TCGA-KK-A8IA-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4302b78b-6ed4-42e0-b730-520da1966483 48663fd9-664b-4ba1-a992-df8b0bc460e8 g.chr3:39174617A>G ENST00000301819.6 + 20 2838 c.2661A>G c.(2659-2661)caA>caG p.Q887Q TTC21A_ENST00000493856.1_3'UTR|TTC21A_ENST00000431162.2_Silent_p.Q886Q|TTC21A_ENST00000440121.1_Silent_p.Q838Q NM_145755.2 NP_665698.2 Q8NDW8 TT21A_HUMAN tetratricopeptide repeat domain 21A 886 binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3) 50 KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738) CCCAGAAGCAACTGGCAGCCT 0.502000 12 27 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152711423 152711423 + Silent SNP G G A TCGA-KK-A8IA-01A-11D-A364-08 TCGA-KK-A8IA-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4302b78b-6ed4-42e0-b730-520da1966483 48663fd9-664b-4ba1-a992-df8b0bc460e8 g.chr6:152711423G>A ENST00000367255.5 - 53 8770 c.8169C>T c.(8167-8169)caC>caT p.H2723H SYNE1_ENST00000265368.4_Silent_p.H2723H|SYNE1_ENST00000341594.5_Silent_p.H2762H|SYNE1_ENST00000423061.1_Silent_p.H2730H|SYNE1_ENST00000448038.1_Silent_p.H2730H NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 2723 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) ACCTTTGAGCGTGGACGGAGG 0.458000 HNSCC(10;0.0054) 21 29 0 0 1 0 0 MPHOSPH10 10199 broad.mit.edu 37 2 71361867 71361867 + Silent SNP T T C TCGA-KK-A8IA-01A-11D-A364-08 TCGA-KK-A8IA-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4302b78b-6ed4-42e0-b730-520da1966483 48663fd9-664b-4ba1-a992-df8b0bc460e8 g.chr2:71361867T>C ENST00000244230.2 + 4 1390 c.1038T>C c.(1036-1038)gtT>gtC p.V346V MPHOSPH10_ENST00000498451.2_Silent_p.V346V NM_005791.2 NP_005782.1 O00566 MPP10_HUMAN M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein) 346 RNA splicing, via transesterification reactions|rRNA processing chromosome|nucleolus|small nucleolar ribonucleoprotein complex protein binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|pancreas(2)|skin(2)|stomach(1) 26 ATACAGGTGTTTTAAATGTAA 0.289000 6 89 0 0 1 0 0 MAGEA4 4103 broad.mit.edu 37 X 151093031 151093031 + Missense_Mutation SNP C C T TCGA-KK-A8IA-01A-11D-A364-08 TCGA-KK-A8IA-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4302b78b-6ed4-42e0-b730-520da1966483 48663fd9-664b-4ba1-a992-df8b0bc460e8 g.chrX:151093031C>T ENST00000370340.3 + 3 1162 c.895C>T c.(895-897)Cgc>Tgc p.R299C MAGEA4_ENST00000393920.1_Missense_Mutation_p.R299C|MAGEA4_ENST00000276344.2_Missense_Mutation_p.R299C|MAGEA4_ENST00000360243.2_Missense_Mutation_p.R299C|MAGEA4_ENST00000393921.1_Missense_Mutation_p.R299C|MAGEA4_ENST00000370337.4_Missense_Mutation_p.R299C|MAGEA4_ENST00000370335.1_Missense_Mutation_p.R299C P43358 MAGA4_HUMAN melanoma antigen family A, 4 299 MAGE. protein binding breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2) 27 Acute lymphoblastic leukemia(192;6.56e-05) TGCAAGAGTTCGCATTGCCTA 0.567000 8 85 0 0 1 0 0 LTBP2 4053 broad.mit.edu 37 14 74995318 74995318 + Missense_Mutation SNP C C T TCGA-KK-A8IA-01A-11D-A364-08 TCGA-KK-A8IA-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4302b78b-6ed4-42e0-b730-520da1966483 48663fd9-664b-4ba1-a992-df8b0bc460e8 g.chr14:74995318C>T ENST00000261978.4 - 12 2622 c.2236G>A c.(2236-2238)Gag>Aag p.E746K LTBP2_ENST00000556690.1_Missense_Mutation_p.E746K NM_000428.2 NP_000419.1 Q14767 LTBP2_HUMAN latent transforming growth factor beta binding protein 2 746 protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|growth factor binding breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649) AGTTCCTCCTCCTCGGCTTTC 0.672000 20 15 0 0 1 0 0 CPM 1368 broad.mit.edu 37 12 69250317 69250317 + Missense_Mutation SNP G G A TCGA-KK-A8IA-01A-11D-A364-08 TCGA-KK-A8IA-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4302b78b-6ed4-42e0-b730-520da1966483 48663fd9-664b-4ba1-a992-df8b0bc460e8 g.chr12:69250317G>A ENST00000551568.1 - 9 1292 c.1232C>T c.(1231-1233)cCa>cTa p.P411L CPM_ENST00000338356.3_Missense_Mutation_p.P411L|CPM_ENST00000546373.1_Missense_Mutation_p.P411L NM_001005502.2|NM_198320.3 NP_001005502.1|NP_938079.1 P14384 CBPM_HUMAN carboxypeptidase M 411 anatomical structure morphogenesis|proteolysis anchored to membrane|cytoplasm|nucleus|plasma membrane metallocarboxypeptidase activity|zinc ion binding large_intestine(1)|lung(6)|prostate(2) 9 all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06) all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143) AGGAATCATTGGGCATGAAGG 0.378000 30 38 0 0 1 0 0 ADAR 103 broad.mit.edu 37 1 154573599 154573599 + Missense_Mutation SNP C C T TCGA-KK-A8IA-01A-11D-A364-08 TCGA-KK-A8IA-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4302b78b-6ed4-42e0-b730-520da1966483 48663fd9-664b-4ba1-a992-df8b0bc460e8 g.chr1:154573599C>T ENST00000368474.4 - 2 1718 c.1519G>A c.(1519-1521)Ggg>Agg p.G507R ADAR_ENST00000368471.3_Missense_Mutation_p.G212R|ADAR_ENST00000292205.5_Missense_Mutation_p.G550R NM_001111.4|NM_015840.3|NM_015841.3 NP_001102.2|NP_056655.2|NP_056656.2 P55265 DSRAD_HUMAN adenosine deaminase, RNA-specific 507 DRBM 1. adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway cytoplasm|nucleolus|nucleoplasm DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding p.G507W(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2) 51 all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997) LUSC - Lung squamous cell carcinoma(543;0.185) Colorectal(1306;0.115) TCTAACAGCCCGCTGATGGGG 0.527000 11 54 0 0 1 0 0 FN1 2335 broad.mit.edu 37 2 216289830 216289830 + Silent SNP G G A rs138120768 byFrequency TCGA-KK-A8IA-01A-11D-A364-08 TCGA-KK-A8IA-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4302b78b-6ed4-42e0-b730-520da1966483 48663fd9-664b-4ba1-a992-df8b0bc460e8 g.chr2:216289830G>A ENST00000354785.4 - 7 1392 c.1023C>T c.(1021-1023)agC>agT p.S341S FN1_ENST00000443816.1_Silent_p.S341S|FN1_ENST00000432072.2_Silent_p.S341S|FN1_ENST00000421182.1_Silent_p.S341S|FN1_ENST00000426059.1_Silent_p.S341S|FN1_ENST00000357867.4_Silent_p.S341S|FN1_ENST00000357009.2_Silent_p.S341S|FN1_ENST00000356005.4_Silent_p.S341S|FN1_ENST00000346544.3_Silent_p.S341S|FN1_ENST00000345488.5_Silent_p.S341S|FN1_ENST00000336916.4_Silent_p.S341S|FN1_ENST00000323926.6_Silent_p.S341S|FN1_ENST00000359671.1_Silent_p.S341S|FN1_ENST00000446046.1_Silent_p.S341S P02751 FINC_HUMAN fibronectin 1 341 Collagen-binding.|Fibronectin type-I 6. acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding FN1/ALK(2) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 109 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TCTCTTGGCAGCTGACTCCGT 0.413000 9 178 0 0 1 0 0 AFG3L2 10939 broad.mit.edu 37 18 12337420 12337420 + Missense_Mutation SNP C C T TCGA-KK-A8IA-01A-11D-A364-08 TCGA-KK-A8IA-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4302b78b-6ed4-42e0-b730-520da1966483 48663fd9-664b-4ba1-a992-df8b0bc460e8 g.chr18:12337420C>T ENST00000269143.3 - 16 2326 c.2095G>A c.(2095-2097)Gat>Aat p.D699N NM_006796.2 NP_006787.2 Q9Y4W6 AFG32_HUMAN AFG3-like AAA ATPase 2 699 cell death|protein catabolic process|proteolysis integral to membrane ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1) 27 Adenosine triphosphate(DB00171) CGTACTTCATCATCTATCAAT 0.428000 9 46 0 0 1 0 0 FNDC1 84624 broad.mit.edu 37 6 159653528 159653528 + Missense_Mutation SNP G G A TCGA-KK-A8IA-01A-11D-A364-08 TCGA-KK-A8IA-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4302b78b-6ed4-42e0-b730-520da1966483 48663fd9-664b-4ba1-a992-df8b0bc460e8 g.chr6:159653528G>A ENST00000297267.9 + 11 2184 c.1984G>A c.(1984-1986)Gcc>Acc p.A662T FNDC1_ENST00000340366.6_Missense_Mutation_p.A599T NM_032532.2 NP_115921.2 Q4ZHG4 FNDC1_HUMAN fibronectin type III domain containing 1 662 extracellular region NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3) 93 Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195) OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05) CCCCAAGGGCGCCTTCGCCCA 0.672000 19 23 0 0 1 0 0 MS4A2 2206 broad.mit.edu 37 11 59860884 59860884 + Missense_Mutation SNP C C G TCGA-KK-A8IA-01A-11D-A364-08 TCGA-KK-A8IA-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4302b78b-6ed4-42e0-b730-520da1966483 48663fd9-664b-4ba1-a992-df8b0bc460e8 g.chr11:59860884C>G ENST00000278888.3 + 5 492 c.390C>G c.(388-390)agC>agG p.S130R NM_000139.4 NP_000130.1 Q01362 FCERB_HUMAN membrane-spanning 4-domains, subfamily A, member 2 130 cell proliferation|humoral immune response integral to plasma membrane calcium channel activity endometrium(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2) 17 all_epithelial(135;0.245) Omalizumab(DB00043) TGAGAGGAAGCCTGGGAGCAA 0.488000 20 59 0 0 1 0 0 CTNND2 1501 broad.mit.edu 37 5 11023079 11023079 + Missense_Mutation SNP A A C TCGA-KK-A8IA-01A-11D-A364-08 TCGA-KK-A8IA-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4302b78b-6ed4-42e0-b730-520da1966483 48663fd9-664b-4ba1-a992-df8b0bc460e8 g.chr5:11023079A>C ENST00000304623.8 - 17 2990 c.2801T>G c.(2800-2802)aTg>aGg p.M934R CTNND2_ENST00000458100.2_Missense_Mutation_p.M501R|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000511377.1_Missense_Mutation_p.M843R|CTNND2_ENST00000503622.1_Missense_Mutation_p.M597R|CTNND2_ENST00000359640.2_Missense_Mutation_p.M876R NM_001332.2 NP_001323.1 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 934 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 136 TAGGTCTCGCATGGCGTATTT 0.507000 18 35 0 0 1 0 0 ZIC1 7545 broad.mit.edu 37 3 147128235 147128235 + Silent SNP G G A TCGA-KK-A8IA-01A-11D-A364-08 TCGA-KK-A8IA-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4302b78b-6ed4-42e0-b730-520da1966483 48663fd9-664b-4ba1-a992-df8b0bc460e8 g.chr3:147128235G>A ENST00000282928.4 + 1 1065 c.336G>A c.(334-336)gcG>gcA p.A112A NM_003412.3 NP_003403.2 Q15915 ZIC1_HUMAN Zic family member 1 112 Poly-Ala. behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 63 ACGCGGCGGCGGCAGCCAGCG 0.701000 10 14 0 0 1 0 0 LIMK1 3984 broad.mit.edu 37 7 73520433 73520433 + Missense_Mutation SNP C C G TCGA-KK-A8IA-01A-11D-A364-08 TCGA-KK-A8IA-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4302b78b-6ed4-42e0-b730-520da1966483 48663fd9-664b-4ba1-a992-df8b0bc460e8 g.chr7:73520433C>G ENST00000418310.1 + 7 933 c.831C>G c.(829-831)agC>agG p.S277R LIMK1_ENST00000336180.2_Missense_Mutation_p.S247R|LIMK1_ENST00000538333.3_Missense_Mutation_p.S213R P53667 LIMK1_HUMAN LIM domain kinase 1 247 actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension|Rho protein signal transduction cytosol|growth cone|nucleus ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 21 Lung NSC(55;0.137) AGGAAACCAGCCGCCTGCTCC 0.632000 41 62 0 0 1 0 0 NLRC5 84166 broad.mit.edu 37 16 57099144 57099144 + Missense_Mutation SNP A A G TCGA-KK-A8IA-01A-11D-A364-08 TCGA-KK-A8IA-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4302b78b-6ed4-42e0-b730-520da1966483 48663fd9-664b-4ba1-a992-df8b0bc460e8 g.chr16:57099144A>G ENST00000436936.1 + 33 4400 c.4175A>G c.(4174-4176)gAc>gGc p.D1392G NLRC5_ENST00000539144.1_Missense_Mutation_p.D1363G|NLRC5_ENST00000262510.6_Missense_Mutation_p.D1392G|NLRC5_ENST00000308149.7_Missense_Mutation_p.D1363G Q86WI3 NLRC5_HUMAN NLR family, CARD domain containing 5 1392 defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity cytosol|nucleus ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 75 all_neural(199;0.225) CCGTGGGCGGACAGAGCCAGG 0.602000 6 12 0 0 1 0 0 DCHS2 54798 broad.mit.edu 37 4 155253944 155253944 + Missense_Mutation SNP G G A TCGA-KK-A8IA-01A-11D-A364-08 TCGA-KK-A8IA-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4302b78b-6ed4-42e0-b730-520da1966483 48663fd9-664b-4ba1-a992-df8b0bc460e8 g.chr4:155253944G>A ENST00000357232.3 - 9 1918 c.1919C>T c.(1918-1920)aCg>aTg p.T640M DCHS2_ENST00000339452.1_Missense_Mutation_p.T1139M NM_017639.3 NP_060109.2 Q6V1P9 PCD23_HUMAN dachsous cadherin-related 2 640 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 176 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) AATCCAGCCCGTGTAAGGGCG 0.517000 30 41 0 0 1 0 0 FCRL6 343413 broad.mit.edu 37 1 159778953 159778953 + Missense_Mutation SNP C C A TCGA-KK-A8IA-01A-11D-A364-08 TCGA-KK-A8IA-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4302b78b-6ed4-42e0-b730-520da1966483 48663fd9-664b-4ba1-a992-df8b0bc460e8 g.chr1:159778953C>A ENST00000321935.6 + 5 629 c.543C>A c.(541-543)gaC>gaA p.D181E FCRL6_ENST00000368106.3_Missense_Mutation_p.D174E|FCRL6_ENST00000339348.5_Missense_Mutation_p.D174E|FCRL6_ENST00000392235.3_Intron Q6DN72 FCRL6_HUMAN Fc receptor-like 6 174 Ig-like C2-type 2. integral to membrane NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 24 all_hematologic(112;0.0597) AGGAGGGAGACTCTGGGCTTT 0.627000 22 28 1.10513e-12 1.2179e-12 1 1 0 ZNF831 128611 broad.mit.edu 37 20 57767047 57767047 + Missense_Mutation SNP A A G TCGA-KK-A8IA-01A-11D-A364-08 TCGA-KK-A8IA-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4302b78b-6ed4-42e0-b730-520da1966483 48663fd9-664b-4ba1-a992-df8b0bc460e8 g.chr20:57767047A>G ENST00000371030.2 + 1 973 c.973A>G c.(973-975)Aag>Gag p.K325E NM_178457.1 NP_848552.1 Q5JPB2 ZN831_HUMAN zinc finger protein 831 325 intracellular nucleic acid binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) GGCAGCGGAGAAGCCCTGGGA 0.711000 13 24 0 0 1 0 0 WTAP 9589 broad.mit.edu 37 6 160174524 160174524 + Missense_Mutation SNP G G C TCGA-KK-A8IA-01A-11D-A364-08 TCGA-KK-A8IA-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4302b78b-6ed4-42e0-b730-520da1966483 48663fd9-664b-4ba1-a992-df8b0bc460e8 g.chr6:160174524G>C ENST00000358372.4 + 7 2242 c.485G>C c.(484-486)cGa>cCa p.R162P SOD2_ENST00000546087.1_Intron NM_001270531.1|NM_004906.4 NP_001257460.1|NP_004897.2 Q15007 FL2D_HUMAN Wilms tumor 1 associated protein 162 cell cycle|mRNA processing|RNA splicing nuclear membrane|nucleolus central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1) 18 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06) GCGAAGTGTCGAATGCTTATC 0.428000 17 26 0 0 1 0 0 LONRF1 91694 broad.mit.edu 37 8 12600768 12600768 + Missense_Mutation SNP T T G TCGA-KK-A8IA-01A-11D-A364-08 TCGA-KK-A8IA-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4302b78b-6ed4-42e0-b730-520da1966483 48663fd9-664b-4ba1-a992-df8b0bc460e8 g.chr8:12600768T>G ENST00000398246.3 - 2 814 c.745A>C c.(745-747)Att>Ctt p.I249L LONRF1_ENST00000533751.1_5'UTR|LONRF1_ENST00000530693.1_5'UTR NM_152271.3 NP_689484.3 Q17RB8 LONF1_HUMAN LON peptidase N-terminal domain and ring finger 1 249 proteolysis ATP-dependent peptidase activity|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(2) 19 READ - Rectum adenocarcinoma(644;0.236) GCTCTGTAAATTTTTACAATC 0.303000 17 5 0 0 1 0 0 OR6K2 81448 broad.mit.edu 37 1 158669500 158669500 + Missense_Mutation SNP C C T rs141972386 TCGA-KK-A8IA-01A-11D-A364-08 TCGA-KK-A8IA-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4302b78b-6ed4-42e0-b730-520da1966483 48663fd9-664b-4ba1-a992-df8b0bc460e8 g.chr1:158669500C>T ENST00000359610.2 - 1 986 c.943G>A c.(943-945)Gta>Ata p.V315I NM_001005279.1 NP_001005279.1 Q8NGY2 OR6K2_HUMAN olfactory receptor, family 6, subfamily K, member 2 315 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.V315I(1) breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 46 all_hematologic(112;0.0378) CCTGGTCTTACGGAAAAAAAT 0.368000 16 27 0 0 1 0 0 ATP9B 374868 broad.mit.edu 37 18 76873307 76873307 + Missense_Mutation SNP G G C TCGA-KK-A8IA-01A-11D-A364-08 TCGA-KK-A8IA-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4302b78b-6ed4-42e0-b730-520da1966483 48663fd9-664b-4ba1-a992-df8b0bc460e8 g.chr18:76873307G>C ENST00000426216.2 + 4 528 c.511G>C c.(511-513)Gta>Cta p.V171L ATP9B_ENST00000586722.1_Missense_Mutation_p.V171L|ATP9B_ENST00000307671.7_Missense_Mutation_p.V171L|ATP9B_ENST00000458297.2_Missense_Mutation_p.V119L|ATP9B_ENST00000591464.1_Intron NM_198531.3 NP_940933.3 O43861 ATP9B_HUMAN ATPase, class II, type 9B 171 ATP biosynthetic process integral to membrane aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1) 38 Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171) OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405) CTCACAGTTTGTACCAGCATT 0.289000 3 54 0 0 1 0 0 POSTN 10631 broad.mit.edu 37 13 38138690 38138690 + Silent SNP G G A TCGA-KK-A8IA-01A-11D-A364-08 TCGA-KK-A8IA-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4302b78b-6ed4-42e0-b730-520da1966483 48663fd9-664b-4ba1-a992-df8b0bc460e8 g.chr13:38138690G>A ENST00000379747.4 - 22 2556 c.2439C>T c.(2437-2439)ccC>ccT p.P813P POSTN_ENST00000541481.1_Silent_p.P726P|POSTN_ENST00000541179.1_Silent_p.P758P|POSTN_ENST00000379742.4_Silent_p.P756P|POSTN_ENST00000379749.4_Silent_p.P785P|POSTN_ENST00000379743.4_Silent_p.P786P NM_006475.2 NP_006466.2 Q15063 POSTN_HUMAN periostin, osteoblast specific factor 813 cell adhesion|skeletal system development proteinaceous extracellular matrix heparin binding cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 59 Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743) all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154) ACTTCCTCACGGGTGTGTCTA 0.348000 4 85 0 0 1 0 0 NCOA6 23054 broad.mit.edu 37 20 33345744 33345744 + Silent SNP C C T TCGA-KK-A8IA-01A-11D-A364-08 TCGA-KK-A8IA-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4302b78b-6ed4-42e0-b730-520da1966483 48663fd9-664b-4ba1-a992-df8b0bc460e8 g.chr20:33345744C>T ENST00000374796.2 - 8 3377 c.807G>A c.(805-807)caG>caA p.Q269Q NCOA6_ENST00000359003.2_Silent_p.Q269Q Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 269 CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding p.Q269Q(15) NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 gctgctgctgctgttgttgtt 0.537000 3 38 0 0 1 0 0 ACP1 52 broad.mit.edu 37 2 271876 271876 + Missense_Mutation SNP T T G TCGA-KK-A8IA-01A-11D-A364-08 TCGA-KK-A8IA-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4302b78b-6ed4-42e0-b730-520da1966483 48663fd9-664b-4ba1-a992-df8b0bc460e8 g.chr2:271876T>G ENST00000272067.6 + 2 150 c.54T>G c.(52-54)tgT>tgG p.C18W ACP1_ENST00000272065.5_Missense_Mutation_p.C18W|ACP1_ENST00000439645.2_Missense_Mutation_p.C18W|ACP1_ENST00000484464.1_3'UTR|ACP1_ENST00000407983.3_Missense_Mutation_p.C18W|ACP1_ENST00000405233.1_Missense_Mutation_p.C18W NM_007099.3 NP_009030.1 P24666 PPAC_HUMAN acid phosphatase 1, soluble 18 CLGNICRS -> PARREAAR (in Ref. 5; AAB27085). cytoplasm|internal side of plasma membrane|nucleus|soluble fraction acid phosphatase activity|identical protein binding|non-membrane spanning protein tyrosine phosphatase activity endometrium(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1) 12 all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.00175)|Lung NSC(108;0.216)|all_epithelial(98;0.236) all cancers(51;0.000391)|Epithelial(75;0.00281)|OV - Ovarian serous cystadenocarcinoma(76;0.00542)|GBM - Glioblastoma multiforme(21;0.127) GTAACATTTGTCGATCACCCA 0.453000 34 37 0 0 1 0 0 ZIC4 84107 broad.mit.edu 37 3 147108912 147108913 + Frame_Shift_Ins INS - - C TCGA-KK-A8IA-01A-11D-A364-08 TCGA-KK-A8IA-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4302b78b-6ed4-42e0-b730-520da1966483 48663fd9-664b-4ba1-a992-df8b0bc460e8 g.chr3:147108912_147108913insC ENST00000383075.3 - 4 1321_1322 c.809_810insG c.(808-810)gtgfs p.V270fs ZIC4_ENST00000425731.3_Frame_Shift_Ins_p.V308fs|ZIC4_ENST00000484399.1_Frame_Shift_Ins_p.V270fs|ZIC4_ENST00000473123.1_Frame_Shift_Ins_p.V270fs|ZIC4_ENST00000472749.2_5'UTR|ZIC4_ENST00000491672.1_Frame_Shift_Ins_p.V64fs|ZIC4_ENST00000525172.2_Frame_Shift_Ins_p.V320fs NM_032153.5 NP_115529.2 Q8N9L1 ZIC4_HUMAN Zic family member 4 270 nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4) 57 ACTTGTCGCAGCCCCGCACCTT 0.639 21 26 --- --- --- --- EIF4G1 1981 broad.mit.edu 37 3 184046495 184046496 + Frame_Shift_Ins INS - - T TCGA-KK-A8IA-01A-11D-A364-08 TCGA-KK-A8IA-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4302b78b-6ed4-42e0-b730-520da1966483 48663fd9-664b-4ba1-a992-df8b0bc460e8 g.chr3:184046495_184046496insT ENST00000342981.4 + 26 4447_4448 c.4033_4034insT c.(4033-4035)aacfs p.N1345fs EIF4G1_ENST00000352767.3_Frame_Shift_Ins_p.N1351fs|EIF4G1_ENST00000411531.1_Frame_Shift_Ins_p.N1305fs|EIF4G1_ENST00000382330.3_Frame_Shift_Ins_p.N1351fs|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000346169.2_Frame_Shift_Ins_p.N1344fs|EIF4G1_ENST00000414031.1_Frame_Shift_Ins_p.N1304fs|EIF4G1_ENST00000441154.1_Frame_Shift_Ins_p.N1181fs|EIF4G1_ENST00000319274.6_Frame_Shift_Ins_p.N1344fs|EIF4G1_ENST00000392537.2_Frame_Shift_Ins_p.N1257fs|EIF4G1_ENST00000427845.1_Frame_Shift_Ins_p.N1258fs|EIF4G1_ENST00000350481.5_Frame_Shift_Ins_p.N1180fs|EIF4G1_ENST00000434061.2_Frame_Shift_Ins_p.N1149fs|EIF4G1_ENST00000424196.1_Frame_Shift_Ins_p.N1351fs|EIF4G1_ENST00000435046.2_Frame_Shift_Ins_p.N1148fs NM_182917.4 NP_886553.3 Q04637 IF4G1_HUMAN eukaryotic translation initiation factor 4 gamma, 1 1344 MI. insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 75 all_cancers(143;1.06e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) AGCGGAACTGGTAACACCCATT 0.530 45 69 --- --- --- --- KAT6B 23522 broad.mit.edu 37 10 76784946 76784949 + Frame_Shift_Del DEL ACAA ACAA - TCGA-KK-A8IA-01A-11D-A364-08 TCGA-KK-A8IA-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4302b78b-6ed4-42e0-b730-520da1966483 48663fd9-664b-4ba1-a992-df8b0bc460e8 g.chr10:76784946_76784949delACAA ENST00000287239.4 + 17 4092_4095 c.3603_3606delACAA c.(3601-3606)agfs p.RQ1201fs KAT6B_ENST00000372714.1_Frame_Shift_Del_p.RQ909fs|KAT6B_ENST00000372724.1_Frame_Shift_Del_p.RQ909fs|KAT6B_ENST00000372725.1_Frame_Shift_Del_p.RQ909fs|KAT6B_ENST00000372711.1_Frame_Shift_Del_p.RQ1018fs|KAT6B_ENST00000490365.1_3'UTR NM_001256468.1|NM_012330.3 NP_001243397.1|NP_036462.2 Q8WYB5 MYST4_HUMAN K(lysine) acetyltransferase 6B 1201 histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding GGAAGAAAAGACAAACAGAGGAAG 0.451 14 23 --- --- --- ---