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 WDR77 79084 broad.mit.edu 37 1 111983955 111983955 + Missense_Mutation SNP T T C TCGA-ZG-A8QY-01A-11D-A377-08 TCGA-ZG-A8QY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150b111d-aeb3-40fb-aa1f-cd991db33ece 951bf391-e24b-41f8-ba79-ba1ba44d09a8 g.chr1:111983955T>C ENST00000235090.5 - 10 1132 c.926A>G c.(925-927)aAt>aGt p.N309S WDR77_ENST00000411751.2_Missense_Mutation_p.N245S|WDR77_ENST00000497278.1_5'UTR NM_024102.2 NP_077007.1 Q9BQA1 MEP50_HUMAN WD repeat domain 77 309 ncRNA metabolic process|spliceosomal snRNP assembly cytosol|nucleus ligand-dependent nuclear receptor transcription coactivator activity|protein binding NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 all_cancers(81;0.000902)|all_epithelial(167;0.00056)|all_lung(203;0.00277)|Lung NSC(277;0.0043) Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135) CAGGGAGTGATTGAGCGGGGA 0.532 13 43 --- --- --- --- INSRR 3645 broad.mit.edu 37 1 156819190 156819190 + Missense_Mutation SNP G G A TCGA-ZG-A8QY-01A-11D-A377-08 TCGA-ZG-A8QY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150b111d-aeb3-40fb-aa1f-cd991db33ece 951bf391-e24b-41f8-ba79-ba1ba44d09a8 g.chr1:156819190G>A ENST00000368195.3 - 6 1688 c.1292C>T c.(1291-1293)gCg>gTg p.A431V NTRK1_ENST00000392302.2_Intron NM_014215.2 NP_055030.1 P14616 INSRR_HUMAN insulin receptor-related receptor 431 protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 42 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) GGTGAGCCCCGCGGCCACCCA 0.622 14 49 --- --- --- --- MARK1 4139 broad.mit.edu 37 1 220791998 220791998 + Silent SNP A A G TCGA-ZG-A8QY-01A-11D-A377-08 TCGA-ZG-A8QY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150b111d-aeb3-40fb-aa1f-cd991db33ece 951bf391-e24b-41f8-ba79-ba1ba44d09a8 g.chr1:220791998A>G ENST00000402574.1 + 9 1407 c.405A>G c.(403-405)ttA>ttG p.L135L MARK1_ENST00000366917.4_Silent_p.L270L|MARK1_ENST00000366918.4_Silent_p.L248L NM_018650.3 NP_061120.3 Q9P0L2 MARK1_HUMAN MAP/microtubule affinity-regulating kinase 1 270 Protein kinase. intracellular protein kinase cascade cytoplasm|microtubule cytoskeleton ATP binding|magnesium ion binding|protein serine/threonine kinase activity central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1) 63 GBM - Glioblastoma multiforme(131;0.0407) AGCGAGTTTTACGAGGGAAGT 0.353 23 36 --- --- --- --- TLR5 7100 broad.mit.edu 37 1 223284141 223284141 + Missense_Mutation SNP G G T TCGA-ZG-A8QY-01A-11D-A377-08 TCGA-ZG-A8QY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150b111d-aeb3-40fb-aa1f-cd991db33ece 951bf391-e24b-41f8-ba79-ba1ba44d09a8 g.chr1:223284141G>T ENST00000540964.1 - 4 2694 c.2233C>A c.(2233-2235)Cag>Aag p.Q745K TLR5_ENST00000342210.6_Missense_Mutation_p.Q745K O60602 TLR5_HUMAN toll-like receptor 5 745 TIR. Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1). cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway integral to membrane|plasma membrane interleukin-1 receptor binding|transmembrane receptor activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 GBM - Glioblastoma multiforme(131;0.0851) ATGGCATCCTGGATATTGGCA 0.473 3 21 --- --- --- --- PCNXL2 80003 broad.mit.edu 37 1 233394212 233394212 + Nonsense_Mutation SNP G G A TCGA-ZG-A8QY-01A-11D-A377-08 TCGA-ZG-A8QY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150b111d-aeb3-40fb-aa1f-cd991db33ece 951bf391-e24b-41f8-ba79-ba1ba44d09a8 g.chr1:233394212G>A ENST00000258229.9 - 5 1630 c.1396C>T c.(1396-1398)Cag>Tag p.Q466* PCNXL2_ENST00000430153.1_5'UTR NM_014801.3 NP_055616.3 A6NKB5 PCX2_HUMAN pecanex-like 2 (Drosophila) integral to membrane NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_cancers(173;0.0347)|Prostate(94;0.137) CCAGAACACTGATTGGTGGAT 0.572 11 11 --- --- --- --- NCOA1 8648 broad.mit.edu 37 2 24990954 24990954 + Missense_Mutation SNP A A C TCGA-ZG-A8QY-01A-11D-A377-08 TCGA-ZG-A8QY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150b111d-aeb3-40fb-aa1f-cd991db33ece 951bf391-e24b-41f8-ba79-ba1ba44d09a8 g.chr2:24990954A>C ENST00000405141.1 + 24 4873 c.4162A>C c.(4162-4164)Aag>Cag p.K1388Q NCOA1_ENST00000407230.1_Missense_Mutation_p.K1237Q|NCOA1_ENST00000406961.1_Intron|NCOA1_ENST00000395856.3_Intron|NCOA1_ENST00000348332.3_Intron|NCOA1_ENST00000538539.1_Missense_Mutation_p.K1388Q|NCOA1_ENST00000288599.5_Missense_Mutation_p.K1388Q Q15788 NCOA1_HUMAN nuclear receptor coactivator 1 1388 PAX3/NCOA1(8) breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 53 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GTAGGACAAGAAGACAGAAGA 0.438 T PAX3 alveolar rhadomyosarcoma 31 97 --- --- --- --- TANK 10010 broad.mit.edu 37 2 162091959 162091959 + Missense_Mutation SNP T T C TCGA-ZG-A8QY-01A-11D-A377-08 TCGA-ZG-A8QY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150b111d-aeb3-40fb-aa1f-cd991db33ece 951bf391-e24b-41f8-ba79-ba1ba44d09a8 g.chr2:162091959T>C ENST00000392749.2 + 8 1447 c.1208T>C c.(1207-1209)tTc>tCc p.F403S AC009299.2_ENST00000421122.2_RNA|AC009299.2_ENST00000445372.1_RNA|TANK_ENST00000405852.1_3'UTR|TANK_ENST00000259075.2_Missense_Mutation_p.F403S NM_001199135.1 NP_001186064.1 Q92844 TANK_HUMAN TRAF family member-associated NFKB activator 403 cytosol metal ion binding|protein binding breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(1) 21 CAAGCAGTTTTCCCACCATCC 0.433 30 71 --- --- --- --- GAD1 2571 broad.mit.edu 37 2 171700581 171700581 + Missense_Mutation SNP T T C TCGA-ZG-A8QY-01A-11D-A377-08 TCGA-ZG-A8QY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150b111d-aeb3-40fb-aa1f-cd991db33ece 951bf391-e24b-41f8-ba79-ba1ba44d09a8 g.chr2:171700581T>C ENST00000358196.3 + 7 1215 c.665T>C c.(664-666)tTt>tCt p.F222S GAD1_ENST00000429023.1_3'UTR NM_000817.2 NP_000808.2 Q99259 DCE1_HUMAN glutamate decarboxylase 1 (brain, 67kDa) 222 glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2) 35 L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) GCACCAGTGTTTGTCCTCATG 0.368 9 22 --- --- --- --- ADAM23 8745 broad.mit.edu 37 2 207414876 207414876 + Missense_Mutation SNP C C G TCGA-ZG-A8QY-01A-11D-A377-08 TCGA-ZG-A8QY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150b111d-aeb3-40fb-aa1f-cd991db33ece 951bf391-e24b-41f8-ba79-ba1ba44d09a8 g.chr2:207414876C>G ENST00000264377.3 + 9 1253 c.925C>G c.(925-927)Cac>Gac p.H309D ADAM23_ENST00000374415.3_Missense_Mutation_p.H309D|ADAM23_ENST00000374416.1_Missense_Mutation_p.H309D NM_003812.2 NP_003803.1 O75077 ADA23_HUMAN ADAM metallopeptidase domain 23 309 Peptidase M12B. cell adhesion|central nervous system development|proteolysis extracellular region|integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1) 51 LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205) TGTTAATGATCACAAAACGGT 0.269 10 24 --- --- --- --- CP 1356 broad.mit.edu 37 3 148916153 148916153 + Splice_Site SNP C C G TCGA-ZG-A8QY-01A-11D-A377-08 TCGA-ZG-A8QY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150b111d-aeb3-40fb-aa1f-cd991db33ece 951bf391-e24b-41f8-ba79-ba1ba44d09a8 g.chr3:148916153C>G ENST00000264613.6 - 9 1976 c.e9+1 CP_ENST00000462336.1_Splice_Site NM_000096.3 NP_000087 P00450 CERU_HUMAN ceruloplasmin (ferroxidase) cellular iron ion homeostasis|copper ion transport|transmembrane transport extracellular space chaperone binding|ferroxidase activity breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152) LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) Drotrecogin alfa(DB00055) GTTGGACTTACCTGTCTCCCA 0.338 13 32 --- --- --- --- NOA1 84273 broad.mit.edu 37 4 57842862 57842862 + Missense_Mutation SNP C C A TCGA-ZG-A8QY-01A-11D-A377-08 TCGA-ZG-A8QY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150b111d-aeb3-40fb-aa1f-cd991db33ece 951bf391-e24b-41f8-ba79-ba1ba44d09a8 g.chr4:57842862C>A ENST00000264230.4 - 1 2127 c.890G>T c.(889-891)gGg>gTg p.G297V NM_032313.2 NP_115689.1 Q8NC60 CD014_HUMAN nitric oxide associated 1 297 GTP binding CGGATTCTCCCCGTCCTGTGG 0.677 4 29 --- --- --- --- FNIP1 96459 broad.mit.edu 37 5 131008040 131008040 + Silent SNP T T C TCGA-ZG-A8QY-01A-11D-A377-08 TCGA-ZG-A8QY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150b111d-aeb3-40fb-aa1f-cd991db33ece 951bf391-e24b-41f8-ba79-ba1ba44d09a8 g.chr5:131008040T>C ENST00000307968.7 - 13 2012 c.2013A>G c.(2011-2013)ttA>ttG p.L671L CTC-432M15.3_ENST00000514667.1_Intron|FNIP1_ENST00000307954.8_Silent_p.L654L|FNIP1_ENST00000510461.1_Silent_p.L699L NM_001008738.2 NP_001008738 folliculin interacting protein 1 NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Lung(113;0.0665) CTGTTGACTCTAAGCCTGACT 0.428 56 148 --- --- --- --- MYOT 9499 broad.mit.edu 37 5 137219277 137219277 + Missense_Mutation SNP C C A TCGA-ZG-A8QY-01A-11D-A377-08 TCGA-ZG-A8QY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150b111d-aeb3-40fb-aa1f-cd991db33ece 951bf391-e24b-41f8-ba79-ba1ba44d09a8 g.chr5:137219277C>A ENST00000239926.4 + 7 1395 c.1021C>A c.(1021-1023)Ctt>Att p.L341I RP11-381K20.2_ENST00000508281.2_RNA|MYOT_ENST00000421631.2_Missense_Mutation_p.L157I|RP11-381K20.2_ENST00000514616.1_RNA|MYOT_ENST00000515645.1_Missense_Mutation_p.L226I|MYOT_ENST00000509812.1_Intron NM_006790.2 NP_006781 Q9UBF9 MYOTI_HUMAN myotilin 341 Necessary for interaction with ACTA1.|Necessary for interaction with FLNC. muscle contraction actin cytoskeleton|sarcolemma|sarcomere actin binding|structural constituent of muscle cervix(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1) 23 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) GCTGGATGTCCTTGGTAAGCC 0.413 3 28 --- --- --- --- PCDHA12 56137 broad.mit.edu 37 5 140256423 140256423 + Missense_Mutation SNP G G A TCGA-ZG-A8QY-01A-11D-A377-08 TCGA-ZG-A8QY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150b111d-aeb3-40fb-aa1f-cd991db33ece 951bf391-e24b-41f8-ba79-ba1ba44d09a8 g.chr5:140256423G>A ENST00000398631.2 + 1 1366 c.1366G>A c.(1366-1368)Gcg>Acg p.A456T PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000307360.5_Intron NM_018903.2|NM_031864.2 NP_061726.1|NP_114070.1 p.A456T(1) NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCCTGCGTTCGCGCAGCCCGA 0.662 36 114 --- --- --- --- TDRD6 221400 broad.mit.edu 37 6 46658755 46658755 + Missense_Mutation SNP A A C TCGA-ZG-A8QY-01A-11D-A377-08 TCGA-ZG-A8QY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150b111d-aeb3-40fb-aa1f-cd991db33ece 951bf391-e24b-41f8-ba79-ba1ba44d09a8 g.chr6:46658755A>C ENST00000544460.1 + 1 3144 c.2890A>C c.(2890-2892)Aag>Cag p.K964Q TDRD6_ENST00000316081.6_Missense_Mutation_p.K964Q NM_001168359.1 NP_001161831.1 O60522 TDRD6_HUMAN tudor domain containing 6 964 cell differentiation|multicellular organismal development|spermatogenesis chromatoid body nucleic acid binding NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 Lung(136;0.192) AAAACTTCAGAAGCCTTTGGA 0.363 25 58 --- --- --- --- FAM83B 222584 broad.mit.edu 37 6 54806506 54806506 + Missense_Mutation SNP A A G TCGA-ZG-A8QY-01A-11D-A377-08 TCGA-ZG-A8QY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150b111d-aeb3-40fb-aa1f-cd991db33ece 951bf391-e24b-41f8-ba79-ba1ba44d09a8 g.chr6:54806506A>G ENST00000306858.7 + 5 2853 c.2737A>G c.(2737-2739)Act>Gct p.T913A NM_001010872.1 NP_001010872.1 Q5T0W9 FA83B_HUMAN family with sequence similarity 83, member B 913 autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 71 Lung NSC(77;0.0178)|Renal(3;0.122) AAGAAGACCTACTTCTTCTCC 0.463 20 45 --- --- --- --- MUC17 140453 broad.mit.edu 37 7 100679721 100679721 + Missense_Mutation SNP C C A TCGA-ZG-A8QY-01A-11D-A377-08 TCGA-ZG-A8QY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150b111d-aeb3-40fb-aa1f-cd991db33ece 951bf391-e24b-41f8-ba79-ba1ba44d09a8 g.chr7:100679721C>A ENST00000306151.4 + 3 5088 c.5024C>A c.(5023-5025)gCt>gAt p.A1675D NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 1675 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) CCTACACCTGCTGAAGGTACC 0.493 61 186 --- --- --- --- BRAF 673 broad.mit.edu 37 7 140481405 140481405 + Missense_Mutation SNP A A C TCGA-ZG-A8QY-01A-11D-A377-08 TCGA-ZG-A8QY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150b111d-aeb3-40fb-aa1f-cd991db33ece 951bf391-e24b-41f8-ba79-ba1ba44d09a8 g.chr7:140481405A>C ENST00000288602.6 - 11 1463 c.1403T>G c.(1402-1404)tTt>tGt p.F468C NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 468 Protein kinase. F -> S (in CFC syndrome). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.F468S(1)|p.F468C(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) GACTGTTCCAAATGATCCAGA 0.378 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 12 57 --- --- --- --- KMT2C 58508 broad.mit.edu 37 7 151860195 151860195 + Silent SNP T T C TCGA-ZG-A8QY-01A-11D-A377-08 TCGA-ZG-A8QY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150b111d-aeb3-40fb-aa1f-cd991db33ece 951bf391-e24b-41f8-ba79-ba1ba44d09a8 g.chr7:151860195T>C ENST00000355193.2 - 43 10685 c.10467A>G c.(10465-10467)caA>caG p.Q3489Q KMT2C_ENST00000262189.6_Silent_p.Q3489Q lysine (K)-specific methyltransferase 2C TTGATCCTTGTTGTATATTCT 0.463 28 96 --- --- --- --- GLE1 2733 broad.mit.edu 37 9 131296231 131296231 + Splice_Site SNP G G A TCGA-ZG-A8QY-01A-11D-A377-08 TCGA-ZG-A8QY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150b111d-aeb3-40fb-aa1f-cd991db33ece 951bf391-e24b-41f8-ba79-ba1ba44d09a8 g.chr9:131296231G>A ENST00000309971.4 + 11 1752 c.e11+1 GLE1_ENST00000372770.4_Splice_Site|GLE1_ENST00000539582.1_Splice_Site|RP11-216B9.6_ENST00000434999.1_RNA NM_001003722.1 NP_001003722.1 Q53GS7 GLE1_HUMAN GLE1 RNA export mediator poly(A)+ mRNA export from nucleus|protein transport|transmembrane transport cytoplasm|nuclear pore protein binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|skin(2)|upper_aerodigestive_tract(1) 16 ACTATCAGAGGTAAAGTTGTT 0.398 24 43 --- --- --- --- PFKP 5214 broad.mit.edu 37 10 3177927 3177927 + Splice_Site SNP G G A TCGA-ZG-A8QY-01A-11D-A377-08 TCGA-ZG-A8QY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150b111d-aeb3-40fb-aa1f-cd991db33ece 951bf391-e24b-41f8-ba79-ba1ba44d09a8 g.chr10:3177927G>A ENST00000381075.2 + 23 2322 c.e23-1 PFKP_ENST00000381072.1_Splice_Site|PFKP_ENST00000381125.4_Splice_Site NM_001242339.1 NP_001229268.1 Q01813 K6PP_HUMAN phosphofructokinase, platelet glycolysis 6-phosphofructokinase complex 6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 31 GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142) ATCTTTTATAGGAAAAAAATT 0.408 11 44 --- --- --- --- ZFAND4 93550 broad.mit.edu 37 10 46113586 46113586 + Splice_Site SNP G G C TCGA-ZG-A8QY-01A-11D-A377-08 TCGA-ZG-A8QY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150b111d-aeb3-40fb-aa1f-cd991db33ece 951bf391-e24b-41f8-ba79-ba1ba44d09a8 g.chr10:46113586G>C ENST00000374366.3 - 10 2292 c.e10+1 ZFAND4_ENST00000344646.5_Splice_Site|ZFAND4_ENST00000374371.2_Splice_Site|ZFAND4_ENST00000374370.1_Splice_Site NM_001282905.1|NM_001282906.1 NP_001269834.1|NP_001269835.1 Q86XD8 ANUB1_HUMAN zinc finger, AN1-type domain 4 zinc ion binding TCGCCAACCTGCCTGCATTCG 0.408 12 29 --- --- --- --- DDX6 1656 broad.mit.edu 37 11 118635928 118635928 + Missense_Mutation SNP A A C TCGA-ZG-A8QY-01A-11D-A377-08 TCGA-ZG-A8QY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150b111d-aeb3-40fb-aa1f-cd991db33ece 951bf391-e24b-41f8-ba79-ba1ba44d09a8 g.chr11:118635928A>C ENST00000264018.4 - 6 940 c.635T>G c.(634-636)cTt>cGt p.L212R DDX6_ENST00000534980.1_Missense_Mutation_p.L212R|DDX6_ENST00000526070.2_Missense_Mutation_p.L212R NM_004397.4 NP_004388.2 P26196 DDX6_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 6 212 Helicase ATP-binding. exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay cytoplasmic mRNA processing body|cytosol|RNA-induced silencing complex|stress granule ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|RNA helicase activity NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1) 13 all_hematologic(175;0.0839) Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103) OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377) TGTATCATCAAGCCTCATTAT 0.368 T IGH@ B-NHL 62 166 --- --- --- --- DCN 1634 broad.mit.edu 37 12 91572146 91572146 + Missense_Mutation SNP G G T TCGA-ZG-A8QY-01A-11D-A377-08 TCGA-ZG-A8QY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150b111d-aeb3-40fb-aa1f-cd991db33ece 951bf391-e24b-41f8-ba79-ba1ba44d09a8 g.chr12:91572146G>T ENST00000551354.1 - 2 388 c.184C>A c.(184-186)Ctt>Att p.L62I DCN_ENST00000546745.1_Missense_Mutation_p.L62I|DCN_ENST00000547568.2_Missense_Mutation_p.L62I|DCN_ENST00000546370.1_Missense_Mutation_p.L62I|DCN_ENST00000303320.3_Missense_Mutation_p.L62I|DCN_ENST00000456569.2_Missense_Mutation_p.L62I|DCN_ENST00000552962.1_Missense_Mutation_p.L62I|DCN_ENST00000425043.1_Missense_Mutation_p.L62I|DCN_ENST00000441303.2_Missense_Mutation_p.L62I|DCN_ENST00000550099.1_Missense_Mutation_p.L62I|DCN_ENST00000393155.1_Missense_Mutation_p.L62I|DCN_ENST00000420120.2_Missense_Mutation_p.L62I|DCN_ENST00000228329.5_Missense_Mutation_p.L62I|DCN_ENST00000052754.5_Missense_Mutation_p.L62I P07585 PGS2_HUMAN decorin 62 Cys-rich. organ morphogenesis extracellular space central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1) 20 ACCACTCGAAGATGGCATTGA 0.512 OREG0022021 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 22 58 --- --- --- --- SLC17A8 246213 broad.mit.edu 37 12 100811862 100811862 + Silent SNP G G T rs145178639 byFrequency TCGA-ZG-A8QY-01A-11D-A377-08 TCGA-ZG-A8QY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150b111d-aeb3-40fb-aa1f-cd991db33ece 951bf391-e24b-41f8-ba79-ba1ba44d09a8 g.chr12:100811862G>T ENST00000323346.5 + 11 1666 c.1353G>T c.(1351-1353)ggG>ggT p.G451G SLC17A8_ENST00000392989.3_Silent_p.G401G|SLC17A8_ENST00000552697.1_3'UTR NM_001145288.1|NM_139319.2 NP_001138760.1|NP_647480.1 Q8NDX2 VGLU3_HUMAN solute carrier family 17 (vesicular glutamate transporter), member 8 451 neurotransmitter transport|sensory perception of sound|sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 44 TTCTCATGGGGATCTCAAACG 0.488 25 103 --- --- --- --- BTBD11 121551 broad.mit.edu 37 12 107914363 107914363 + Missense_Mutation SNP C C A TCGA-ZG-A8QY-01A-11D-A377-08 TCGA-ZG-A8QY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150b111d-aeb3-40fb-aa1f-cd991db33ece 951bf391-e24b-41f8-ba79-ba1ba44d09a8 g.chr12:107914363C>A ENST00000280758.5 + 2 1763 c.1235C>A c.(1234-1236)aCc>aAc p.T412N BTBD11_ENST00000420571.2_Missense_Mutation_p.T412N|BTBD11_ENST00000490090.2_Missense_Mutation_p.T412N NM_001018072.1 NP_001018082.1 A6QL63 BTBDB_HUMAN BTB (POZ) domain containing 11 412 integral to membrane DNA binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 53 GAGCTGAGGACCATCGAGCAG 0.562 13 52 --- --- --- --- LINC00173 100287569 broad.mit.edu 37 12 116972454 116972454 + RNA SNP C C G TCGA-ZG-A8QY-01A-11D-A377-08 TCGA-ZG-A8QY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150b111d-aeb3-40fb-aa1f-cd991db33ece 951bf391-e24b-41f8-ba79-ba1ba44d09a8 g.chr12:116972454C>G ENST00000480237.1 + 0 725 NR_027345.1 CCGTACAGCACGATGATTACA 0.448 13 57 --- --- --- --- SACS 26278 broad.mit.edu 37 13 23914995 23914995 + Missense_Mutation SNP T T A TCGA-ZG-A8QY-01A-11D-A377-08 TCGA-ZG-A8QY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150b111d-aeb3-40fb-aa1f-cd991db33ece 951bf391-e24b-41f8-ba79-ba1ba44d09a8 g.chr13:23914995T>A ENST00000382298.3 - 10 3608 c.3020A>T c.(3019-3021)gAa>gTa p.E1007V SACS_ENST00000382292.3_Missense_Mutation_p.E1007V|SACS_ENST00000402364.1_Missense_Mutation_p.E257V NM_014363.4 NP_055178.3 Q9NZJ4 SACS_HUMAN spastic ataxia of Charlevoix-Saguenay (sacsin) 1007 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11) 189 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) TGTTACCTCTTCATGTGAATA 0.328 29 100 --- --- --- --- TMCO3 55002 broad.mit.edu 37 13 114203965 114203965 + Silent SNP C C G TCGA-ZG-A8QY-01A-11D-A377-08 TCGA-ZG-A8QY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150b111d-aeb3-40fb-aa1f-cd991db33ece 951bf391-e24b-41f8-ba79-ba1ba44d09a8 g.chr13:114203965C>G ENST00000375391.1 + 8 1553 c.1242C>G c.(1240-1242)ctC>ctG p.L414L TMCO3_ENST00000434316.2_3'UTR Q6UWJ1 TMCO3_HUMAN transmembrane and coiled-coil domains 3 0 integral to membrane solute:hydrogen antiporter activity NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1) 25 Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983) all cancers(43;0.0317) GAACAGCCCTCTAGCAGAGCG 0.498 4 13 --- --- --- --- ATG14 22863 broad.mit.edu 37 14 55844786 55844786 + Silent SNP A A G TCGA-ZG-A8QY-01A-11D-A377-08 TCGA-ZG-A8QY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150b111d-aeb3-40fb-aa1f-cd991db33ece 951bf391-e24b-41f8-ba79-ba1ba44d09a8 g.chr14:55844786A>G ENST00000247178.5 - 8 1037 c.1002T>C c.(1000-1002)ttT>ttC p.F334F NM_014924.4 NP_055739.2 Q6ZNE5 BAKOR_HUMAN autophagy related 14 334 autophagic vacuole assembly|positive regulation of autophagy autophagic vacuole|endoplasmic reticulum|pre-autophagosomal structure membrane protein binding central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(2) 13 TTTCGCCACAAAATTCACTGT 0.289 8 34 --- --- --- --- IRF2BPL 64207 broad.mit.edu 37 14 77492213 77492213 + Missense_Mutation SNP C C A TCGA-ZG-A8QY-01A-11D-A377-08 TCGA-ZG-A8QY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150b111d-aeb3-40fb-aa1f-cd991db33ece 951bf391-e24b-41f8-ba79-ba1ba44d09a8 g.chr14:77492213C>A ENST00000238647.3 - 1 2821 c.1923G>T c.(1921-1923)aaG>aaT p.K641N NM_024496.3 NP_078772.1 Q9H1B7 I2BPL_HUMAN interferon regulatory factor 2 binding protein-like 641 nucleus endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2) 11 AACTGCCATCCTTGGGCGAGT 0.682 7 26 --- --- --- --- PAK6 56924 broad.mit.edu 37 15 40558520 40558520 + Missense_Mutation SNP C C T TCGA-ZG-A8QY-01A-11D-A377-08 TCGA-ZG-A8QY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150b111d-aeb3-40fb-aa1f-cd991db33ece 951bf391-e24b-41f8-ba79-ba1ba44d09a8 g.chr15:40558520C>T ENST00000455577.2 + 5 1594 c.682C>T c.(682-684)Cgg>Tgg p.R228W PAK6_ENST00000441369.1_Missense_Mutation_p.R228W|PAK6_ENST00000453867.1_Missense_Mutation_p.R228W|PAK6_ENST00000542403.2_Missense_Mutation_p.R228W|PAK6_ENST00000559901.1_3'UTR|PAK6_ENST00000260404.4_Missense_Mutation_p.R228W|RP11-133K1.2_ENST00000558658.1_3'UTR|PAK6_ENST00000560346.1_Missense_Mutation_p.R228W NM_001276718.1 NP_001263647.1 Q9NQU5 PAK6_HUMAN p21 protein (Cdc42/Rac)-activated kinase 6 228 Linker. ATP binding|protein binding|protein serine/threonine kinase activity breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2) 24 all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544) TGAGGAGGCCCGGCCACAGTC 0.672 6 15 --- --- --- --- SV2B 9899 broad.mit.edu 37 15 91827401 91827401 + Missense_Mutation SNP A A G TCGA-ZG-A8QY-01A-11D-A377-08 TCGA-ZG-A8QY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150b111d-aeb3-40fb-aa1f-cd991db33ece 951bf391-e24b-41f8-ba79-ba1ba44d09a8 g.chr15:91827401A>G ENST00000394232.1 + 11 2128 c.1658A>G c.(1657-1659)aAc>aGc p.N553S SV2B_ENST00000545111.2_Missense_Mutation_p.N402S|SV2B_ENST00000330276.4_Missense_Mutation_p.N553S NM_014848.4 NP_055663.1 Q7L1I2 SV2B_HUMAN synaptic vesicle glycoprotein 2B 553 neurotransmitter transport acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane transmembrane transporter activity NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 42 Lung NSC(78;0.0987)|all_lung(78;0.172) BRCA - Breast invasive adenocarcinoma(143;0.0895) TTACCCGGGAACATCATTTCT 0.537 22 85 --- --- --- --- RBFOX1 54715 broad.mit.edu 37 16 7568326 7568326 + Missense_Mutation SNP G G A TCGA-ZG-A8QY-01A-11D-A377-08 TCGA-ZG-A8QY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150b111d-aeb3-40fb-aa1f-cd991db33ece 951bf391-e24b-41f8-ba79-ba1ba44d09a8 g.chr16:7568326G>A ENST00000340209.4 + 2 517 c.220G>A c.(220-222)Gcc>Acc p.A74T RBFOX1_ENST00000550418.1_Missense_Mutation_p.A69T|RBFOX1_ENST00000552089.1_Missense_Mutation_p.A105T|RBFOX1_ENST00000422070.4_Missense_Mutation_p.A112T|RBFOX1_ENST00000355637.4_Missense_Mutation_p.A89T|RBFOX1_ENST00000547338.1_Missense_Mutation_p.A69T|RBFOX1_ENST00000311745.5_Missense_Mutation_p.A89T|RBFOX1_ENST00000553186.1_Missense_Mutation_p.A69T|RBFOX1_ENST00000436368.2_Missense_Mutation_p.A89T|RBFOX1_ENST00000547372.1_Missense_Mutation_p.A112T|RBFOX1_ENST00000535565.2_Missense_Mutation_p.A105T Q9NWB1 RFOX1_HUMAN RNA binding protein, fox-1 homolog (C. elegans) 1 69 mRNA processing|RNA splicing|RNA transport nucleus|trans-Golgi network nucleotide binding|protein C-terminus binding|RNA binding p.A89T(2) breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2) 55 GTACCCTCCCGCCCAGACGCA 0.642 36 103 --- --- --- --- SF3B3 23450 broad.mit.edu 37 16 70602298 70602298 + Missense_Mutation SNP T T C TCGA-ZG-A8QY-01A-11D-A377-08 TCGA-ZG-A8QY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150b111d-aeb3-40fb-aa1f-cd991db33ece 951bf391-e24b-41f8-ba79-ba1ba44d09a8 g.chr16:70602298T>C ENST00000302516.5 + 22 3276 c.3065T>C c.(3064-3066)aTc>aCc p.I1022T NM_012426.4 NP_036558.3 Q15393 SF3B3_HUMAN splicing factor 3b, subunit 3, 130kDa 1022 protein complex assembly catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex nucleic acid binding|protein binding breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 53 Ovarian(137;0.0694) AACCAGCTTATCATCTTTGCT 0.468 28 66 --- --- --- --- APRT 353 broad.mit.edu 37 16 88878005 88878005 + Missense_Mutation SNP G G C TCGA-ZG-A8QY-01A-11D-A377-08 TCGA-ZG-A8QY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150b111d-aeb3-40fb-aa1f-cd991db33ece 951bf391-e24b-41f8-ba79-ba1ba44d09a8 g.chr16:88878005G>C ENST00000378364.3 - 2 184 c.140C>G c.(139-141)gCg>gGg p.A47G APRT_ENST00000426324.2_Missense_Mutation_p.A47G|APRT_ENST00000563655.1_Missense_Mutation_p.A47G NM_000485.2 NP_000476.1 P07741 APT_HUMAN adenine phosphoribosyltransferase 47 purine ribonucleoside salvage cytosol|nucleus adenine phosphoribosyltransferase activity|AMP binding|protein binding cervix(1)|endometrium(1)|liver(1) 3 BRCA - Breast invasive adenocarcinoma(80;0.0477) Adenine(DB00173)|Adenosine monophosphate(DB00131) CAGGTGTCGCGCCAGGAGGCC 0.721 4 7 --- --- --- --- GLOD4 51031 broad.mit.edu 37 17 663460 663460 + Missense_Mutation SNP T T A TCGA-ZG-A8QY-01A-11D-A377-08 TCGA-ZG-A8QY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150b111d-aeb3-40fb-aa1f-cd991db33ece 951bf391-e24b-41f8-ba79-ba1ba44d09a8 g.chr17:663460T>A ENST00000301329.6 - 9 935 c.850A>T c.(850-852)Agt>Tgt p.S284C GLOD4_ENST00000536578.1_Missense_Mutation_p.S275C|GLOD4_ENST00000301328.5_Missense_Mutation_p.S299C NM_016080.3 NP_057164.3 Q9HC38 GLOD4_HUMAN glyoxalase domain containing 4 299 mitochondrion endometrium(1)|large_intestine(1)|prostate(1) 3 UCEC - Uterine corpus endometrioid carcinoma (25;0.022) CACTCGTCACTTTTATCTGCT 0.428 18 48 --- --- --- --- DHRS7C 201140 broad.mit.edu 37 17 9676090 9676090 + Missense_Mutation SNP A A G TCGA-ZG-A8QY-01A-11D-A377-08 TCGA-ZG-A8QY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150b111d-aeb3-40fb-aa1f-cd991db33ece 951bf391-e24b-41f8-ba79-ba1ba44d09a8 g.chr17:9676090A>G ENST00000330255.5 - 5 736 c.724T>C c.(724-726)Tgg>Cgg p.W242R DHRS7C_ENST00000571134.1_Missense_Mutation_p.W241R NM_001105571.2|NM_001220493.1 NP_001099041.1|NP_001207422.1 A6NNS2 DRS7C_HUMAN dehydrogenase/reductase (SDR family) member 7C extracellular region binding|oxidoreductase activity NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9) 15 TCACATTTCCAAATGGAAGCT 0.557 9 36 --- --- --- --- SPOP 8405 broad.mit.edu 37 17 47696424 47696424 + Missense_Mutation SNP G G T TCGA-ZG-A8QY-01A-11D-A377-08 TCGA-ZG-A8QY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150b111d-aeb3-40fb-aa1f-cd991db33ece 951bf391-e24b-41f8-ba79-ba1ba44d09a8 g.chr17:47696424G>T ENST00000393331.3 - 7 869 c.399C>A c.(397-399)ttC>ttA p.F133L SPOP_ENST00000347630.2_Missense_Mutation_p.F133L|SPOP_ENST00000504102.1_Missense_Mutation_p.F133L|SPOP_ENST00000393328.2_Missense_Mutation_p.F133L|SPOP_ENST00000503676.1_Missense_Mutation_p.F133L NM_001007226.1|NM_001007227.1 NP_001007227.1|NP_001007228.1 O43791 SPOP_HUMAN speckle-type POZ protein 133 MATH.|Required for nuclear localization. mRNA processing nucleus protein binding p.F133L(7) endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33) 63 TGAATTTCTTGAATCCCCAGT 0.448 Prostate(2;0.17) 36 87 --- --- --- --- GH1 2688 broad.mit.edu 37 17 61995198 61995198 + Missense_Mutation SNP G G T TCGA-ZG-A8QY-01A-11D-A377-08 TCGA-ZG-A8QY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150b111d-aeb3-40fb-aa1f-cd991db33ece 951bf391-e24b-41f8-ba79-ba1ba44d09a8 g.chr17:61995198G>T ENST00000323322.5 - 4 420 c.378C>A c.(376-378)agC>agA p.S126R CSHL1_ENST00000392824.4_Intron|GH1_ENST00000458650.2_Missense_Mutation_p.S111R|GH1_ENST00000351388.4_Missense_Mutation_p.S86R|GH1_ENST00000342364.4_Intron NM_000515.3 NP_000506.2 P01241 SOMA_HUMAN growth hormone 1 126 glucose transport|growth hormone receptor signaling pathway|JAK-STAT cascade|positive regulation of activation of JAK2 kinase activity|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of MAP kinase activity|positive regulation of multicellular organism growth|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|response to estradiol stimulus extracellular space growth factor activity|growth hormone receptor binding|hormone activity|metal ion binding|prolactin receptor binding breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10) 19 CGTACACCAGGCTGTTGGCGA 0.612 20 65 --- --- --- --- ZNF571 51276 broad.mit.edu 37 19 38056575 38056575 + Missense_Mutation SNP T T G TCGA-ZG-A8QY-01A-11D-A377-08 TCGA-ZG-A8QY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150b111d-aeb3-40fb-aa1f-cd991db33ece 951bf391-e24b-41f8-ba79-ba1ba44d09a8 g.chr19:38056575T>G ENST00000328550.2 - 4 854 c.755A>C c.(754-756)gAa>gCa p.E252A ZNF571-AS1_ENST00000589750.1_RNA|ZNF571-AS1_ENST00000590838.1_RNA|ZNF571-AS1_ENST00000589802.1_RNA|ZNF571-AS1_ENST00000585578.1_RNA|ZNF571-AS1_ENST00000587121.1_RNA|ZNF571_ENST00000593133.1_Missense_Mutation_p.E252A|ZNF571_ENST00000451802.2_Missense_Mutation_p.E252A|ZNF571-AS1_ENST00000591430.1_RNA|ZNF571-AS1_ENST00000592392.1_RNA|ZNF571_ENST00000590751.1_Intron|ZNF571_ENST00000358744.3_Missense_Mutation_p.E252A|ZNF571-AS1_ENST00000586139.1_RNA|ZNF540_ENST00000592533.1_Intron|ZNF571-AS1_ENST00000586013.1_RNA Q7Z3V5 ZN571_HUMAN zinc finger protein 571 252 E -> D (in dbSNP:rs28512414). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 25 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TTTCTTACATTCATATGGTTT 0.368 14 22 --- --- --- --- PSG3 5671 broad.mit.edu 37 19 43244510 43244510 + Silent SNP G G A TCGA-ZG-A8QY-01A-11D-A377-08 TCGA-ZG-A8QY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150b111d-aeb3-40fb-aa1f-cd991db33ece 951bf391-e24b-41f8-ba79-ba1ba44d09a8 g.chr19:43244510G>A ENST00000327495.5 - 1 211 c.27C>T c.(25-27)tgC>tgT p.C9C PSG3_ENST00000595140.1_Silent_p.C9C NM_021016.3 NP_066296.2 Q16557 PSG3_HUMAN pregnancy specific beta-1-glycoprotein 3 9 defense response|female pregnancy extracellular region central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 36 Prostate(69;0.00682) TGCGCTGTGTGCAGGGAGGGG 0.607 44 113 --- --- --- --- ERCC2 2068 broad.mit.edu 37 19 45856355 45856355 + Missense_Mutation SNP T T C TCGA-ZG-A8QY-01A-11D-A377-08 TCGA-ZG-A8QY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150b111d-aeb3-40fb-aa1f-cd991db33ece 951bf391-e24b-41f8-ba79-ba1ba44d09a8 g.chr19:45856355T>C ENST00000391945.4 - 19 1894 c.1817A>G c.(1816-1818)gAg>gGg p.E606G ERCC2_ENST00000391944.3_Missense_Mutation_p.E528G NM_000400.3 NP_000391.1 P18074 ERCC2_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 2 606 Mediates interaction with MMS19. cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction cytoplasm|holo TFIIH complex|MMXD complex 5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1) 9 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0226) GTCGATTCCCTCGGACACTTT 0.642 """Mis, N, F, S""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 19 40 --- --- --- --- FRG1B 284802 broad.mit.edu 37 20 29632688 29632688 + Missense_Mutation SNP A A G TCGA-ZG-A8QY-01A-11D-A377-08 TCGA-ZG-A8QY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150b111d-aeb3-40fb-aa1f-cd991db33ece 951bf391-e24b-41f8-ba79-ba1ba44d09a8 g.chr20:29632688A>G ENST00000278882.3 + 8 883 c.503A>G c.(502-504)aAa>aGa p.K168R FRG1B_ENST00000358464.4_Missense_Mutation_p.K168R endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 AAGGCTCAGAAAGATGGATTT 0.318 23 604 --- --- --- --- BTG3 10950 broad.mit.edu 37 21 18966461 18966461 + Missense_Mutation SNP G G A TCGA-ZG-A8QY-01A-11D-A377-08 TCGA-ZG-A8QY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150b111d-aeb3-40fb-aa1f-cd991db33ece 951bf391-e24b-41f8-ba79-ba1ba44d09a8 g.chr21:18966461G>A ENST00000339775.6 - 6 994 c.841C>T c.(841-843)Cat>Tat p.H281Y BTG3_ENST00000348354.6_Missense_Mutation_p.H237Y NM_001130914.1 NP_001124386.1 Q14201 BTG3_HUMAN BTG family, member 3 237 negative regulation of cell proliferation|negative regulation of mitotic cell cycle cytoplasm endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4) 8 Epithelial(23;0.000283)|all cancers(11;0.0012)|Lung(58;0.0191)|OV - Ovarian serous cystadenocarcinoma(11;0.0206)|COAD - Colon adenocarcinoma(22;0.0315)|LUSC - Lung squamous cell carcinoma(23;0.0703)|Colorectal(24;0.0971) CGGTCACAATGCATTCCAGGA 0.413 22 55 --- --- --- --- IFT172 26160 broad.mit.edu 37 2 27680743 27680756 + Frame_Shift_Del DEL CTGGATGGTGCTTC CTGGATGGTGCTTC - rs61747068 byFrequency TCGA-ZG-A8QY-01A-11D-A377-08 TCGA-ZG-A8QY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150b111d-aeb3-40fb-aa1f-cd991db33ece 951bf391-e24b-41f8-ba79-ba1ba44d09a8 g.chr2:27680743_27680756delCTGGATGGTGCTTC ENST00000260570.3 - 28 3166_3179 c.3063_3076delGAAGCACCATCCAG c.(3061-3078)gggaagcaccatccagatfs p.KHHPD1022fs NM_015662.1 NP_056477.1 Q9UG01 IF172_HUMAN intraflagellar transport 172 homolog (Chlamydomonas) 1022 cilium assembly cilium binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 43 Acute lymphoblastic leukemia(172;0.155) CTGAGGAGATCTGGATGGTGCTTCCCTACCAGGC 0.514 9 56 --- --- --- --- PCF11 51585 broad.mit.edu 37 11 82877752 82877752 + Frame_Shift_Del DEL A A - TCGA-ZG-A8QY-01A-11D-A377-08 TCGA-ZG-A8QY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150b111d-aeb3-40fb-aa1f-cd991db33ece 951bf391-e24b-41f8-ba79-ba1ba44d09a8 g.chr11:82877752delA ENST00000298281.4 + 5 2265 c.1813delA c.(1813-1815)aaafs p.K605fs NM_015885.3 NP_056969.2 O94913 PCF11_HUMAN PCF11 cleavage and polyadenylation factor subunit 605 mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage factor complex cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1) 33 GGAAGAAAATAAAAGGTATGA 0.323 21 49 --- --- --- --- DLG2 1740 broad.mit.edu 37 11 83676415 83676427 + Frame_Shift_Del DEL TGGGTTTGCCAAC TGGGTTTGCCAAC - rs144952538 TCGA-ZG-A8QY-01A-11D-A377-08 TCGA-ZG-A8QY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150b111d-aeb3-40fb-aa1f-cd991db33ece 951bf391-e24b-41f8-ba79-ba1ba44d09a8 g.chr11:83676415_83676427delTGGGTTTGCCAAC ENST00000398309.2 - 8 1296_1308 c.826_838delGTTGGCAAACCCA c.(826-840)gttggcaaacccactfs p.VGKPT276fs DLG2_ENST00000524982.1_Frame_Shift_Del_p.VGKPT276fs|DLG2_ENST00000280241.8_Frame_Shift_Del_p.VGKPT315fs|DLG2_ENST00000376104.2_Frame_Shift_Del_p.VGKPT381fs|DLG2_ENST00000543673.1_Frame_Shift_Del_p.VGKPT381fs|DLG2_ENST00000418306.2_Frame_Shift_Del_p.VGKPT225fs|DLG2_ENST00000398301.2_Frame_Shift_Del_p.VGKPT315fs|DLG2_ENST00000537455.1_Frame_Shift_Del_p.VGKPT30fs|DLG2_ENST00000376106.3_5'UTR|DLG2_ENST00000532653.1_Frame_Shift_Del_p.VGKPT276fs|DLG2_ENST00000531015.1_Frame_Shift_Del_p.VGKPT243fs|DLG2_ENST00000330014.6_Frame_Shift_Del_p.VGKPT215fs NM_001364.3 NP_001355.2 Q15700 DLG2_HUMAN discs, large homolog 2 (Drosophila) 276 PDZ 2. cell junction|postsynaptic density|postsynaptic membrane guanylate kinase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036) TAAATGGTAGTGGGTTTGCCAACTTTTAAATAA 0.371 12 82 --- --- --- --- KDM6B 23135 broad.mit.edu 37 17 7753140 7753146 + Splice_Site DEL AATGCCA AATGCCA - TCGA-ZG-A8QY-01A-11D-A377-08 TCGA-ZG-A8QY-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150b111d-aeb3-40fb-aa1f-cd991db33ece 951bf391-e24b-41f8-ba79-ba1ba44d09a8 g.chr17:7753140_7753146delAATGCCA ENST00000254846.5 + 12 3831_3837 c.3442_3448delAATGCCA c.(3442-3450)aatgccaag>ag p.NAK1148fs KDM6B_ENST00000448097.2_Splice_Site_p.NAK1148fs NM_001080424.1 NP_001073893.1 O15054 KDM6B_HUMAN lysine (K)-specific demethylase 6B 1148 inflammatory response nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5) 37 CTCCCGCAGGAATGCCAAGGTGAAAGG 0.565 27 88 --- --- --- ---