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 MBTPS1 8720 broad.mit.edu 37 16 84089675 84089675 + Missense_Mutation SNP C C T TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr16:84089675C>T ENST00000343411.3 - 22 3392 c.2897G>A c.(2896-2898)cGa>cAa p.R966Q NM_003791.2 NP_003782.1 Q14703 MBTP1_HUMAN membrane-bound transcription factor peptidase, site 1 966 cholesterol metabolic process|proteolysis endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane serine-type endopeptidase activity NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 GCGATTCGATCGAAAGTTGGG 0.483000 30 100 0 0 1 0 0 CASP8 841 broad.mit.edu 37 2 202131238 202131238 + Missense_Mutation SNP T T C TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr2:202131238T>C ENST00000358485.4 + 2 402 c.206T>C c.(205-207)aTt>aCt p.I69T CASP8_ENST00000392266.3_Missense_Mutation_p.I10T|CASP8_ENST00000392259.2_Missense_Mutation_p.I10T|CASP8_ENST00000264274.9_Missense_Mutation_p.I10T|CASP8_ENST00000264275.5_Missense_Mutation_p.I10T|CASP8_ENST00000323492.7_Missense_Mutation_p.I10T|CASP8_ENST00000432109.2_Missense_Mutation_p.I10T|CASP8_ENST00000392258.3_Missense_Mutation_p.I10T NM_001080125.1 NP_001073594.1 Q14790 CASP8_HUMAN caspase 8, apoptosis-related cysteine peptidase 10 DED 1. activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor centrosome|cytosol|mitochondrial outer membrane cysteine-type endopeptidase activity|protein binding p.I10T(2)|p.I69T(1) breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3) 52 CTTTATGATATTGGGGAACAA 0.408000 HNSCC(4;0.00038) 40 58 0 0 1 0 0 AHCYL2 23382 broad.mit.edu 37 7 129046276 129046276 + Missense_Mutation SNP G G A TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr7:129046276G>A ENST00000325006.3 + 10 1318 c.1264G>A c.(1264-1266)Gaa>Aaa p.E422K AHCYL2_ENST00000446544.2_Missense_Mutation_p.E421K|AHCYL2_ENST00000446212.1_Missense_Mutation_p.E320K|AHCYL2_ENST00000531335.2_Missense_Mutation_p.E341K|AHCYL2_ENST00000490911.1_Missense_Mutation_p.E319K|AHCYL2_ENST00000474594.1_Missense_Mutation_p.E319K NM_001130720.2|NM_015328.3 NP_001124192.1|NP_056143.1 Q96HN2 SAHH3_HUMAN adenosylhomocysteinase-like 2 422 one-carbon metabolic process adenosylhomocysteinase activity breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1) 22 GTATGTAACTGAAATTGACCC 0.522000 21 117 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132547138 132547138 + Silent SNP A A G rs35873108 byFrequency TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr12:132547138A>G ENST00000333577.4 + 48 8443 c.8334A>G c.(8332-8334)caA>caG p.Q2778Q EP400_ENST00000389562.2_Silent_p.Q2741Q|EP400_ENST00000389561.2_Silent_p.Q2742Q|EP400_ENST00000332482.4_Silent_p.Q2705Q|EP400_ENST00000330386.6_Silent_p.Q2661Q Q96L91 EP400_HUMAN E1A binding protein p400 2778 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2741Q(3)|p.Q2742Q(1) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcagcaacagcagcagc 0.602000 4 73 0 0 1 0 0 MYCBP2 23077 broad.mit.edu 37 13 77641807 77641807 + Missense_Mutation SNP T T C TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr13:77641807T>C ENST00000407578.2 - 71 12630 c.12364A>G c.(12364-12366)Aaa>Gaa p.K4122E MYCBP2_ENST00000544440.2_Missense_Mutation_p.K4084E|MYCBP2_ENST00000357337.6_Missense_Mutation_p.K4084E NM_015057.4 NP_055872.4 O75592 MYCB2_HUMAN MYC binding protein 2, E3 ubiquitin protein ligase 4084 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) CCTTTGGCTTTTAGCTGTACA 0.433000 58 259 0 0 1 0 0 SESN2 83667 broad.mit.edu 37 1 28599144 28599144 + Missense_Mutation SNP C C T TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr1:28599144C>T ENST00000253063.3 + 5 911 c.590C>T c.(589-591)gCt>gTt p.A197V NM_031459.4 NP_113647.1 P58004 SESN2_HUMAN sestrin 2 197 cell cycle arrest cytoplasm|nucleus cervix(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261) OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649) CTCATTCAGGCTCTGGTCCTG 0.652000 25 102 0 0 1 0 0 SRRM4 84530 broad.mit.edu 37 12 119568502 119568502 + Missense_Mutation SNP G G A TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr12:119568502G>A ENST00000267260.4 + 8 1022 c.634G>A c.(634-636)Gag>Aag p.E212K SRRM4_ENST00000537597.1_3'UTR NM_194286.3 NP_919262.2 A7MD48 SRRM4_HUMAN serine/arginine repetitive matrix 4 212 Ser-rich. cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing nucleus mRNA binding breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1) 24 CCGGTCCCCTGAGGAAGGGCA 0.647000 11 16 0 0 1 0 0 DCC 1630 broad.mit.edu 37 18 50683801 50683801 + Missense_Mutation SNP G G A rs138053380 TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr18:50683801G>A ENST00000442544.2 + 8 1953 c.1337G>A c.(1336-1338)cGt>cAt p.R446H DCC_ENST00000412726.1_Missense_Mutation_p.R294H|DCC_ENST00000581580.1_Missense_Mutation_p.R101H NM_005215.3 NP_005206.2 P43146 DCC_HUMAN deleted in colorectal carcinoma 446 Fibronectin type-III 1. apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane p.R446H(3) NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6) 148 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) CGATTTGTCCGTCTCAGCTGG 0.517000 26 124 0 0 1 0 0 ALG12 79087 broad.mit.edu 37 22 50302947 50302947 + Missense_Mutation SNP G G C TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr22:50302947G>C ENST00000330817.5 - 6 986 c.713C>G c.(712-714)cCg>cGg p.P238R NM_024105.3 NP_077010.1 Q9BV10 ALG12_HUMAN ALG12, alpha-1,6-mannosyltransferase 238 dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine integral to membrane|intrinsic to endoplasmic reticulum membrane p.P238L(1) endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3) 12 all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164) BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247) CTTTCCTTCCGGCCAAGTGAG 0.502000 18 79 0 0 1 0 0 TTC18 118491 broad.mit.edu 37 10 75101306 75101306 + Missense_Mutation SNP G G C TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr10:75101306G>C ENST00000310715.3 - 7 763 c.643C>G c.(643-645)Ctg>Gtg p.L215V TTC18_ENST00000394865.1_Missense_Mutation_p.L215V|TTC18_ENST00000340329.3_Missense_Mutation_p.L215V|TTC18_ENST00000355577.3_5'UTR|TTC18_ENST00000493787.1_5'UTR|TTC18_ENST00000401621.2_Missense_Mutation_p.L215V NM_145170.3 NP_660153.3 Q5T0N1 TTC18_HUMAN tetratricopeptide repeat domain 18 215 binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 Prostate(51;0.0119) CCAAGCTTCAGAGTTCCATTC 0.403000 40 155 0 0 1 0 0 FAM110C 642273 broad.mit.edu 37 2 45619 45619 + Missense_Mutation SNP G G A TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr2:45619G>A ENST00000327669.4 - 1 766 c.767C>T c.(766-768)tCc>tTc p.S256F NM_001077710.2 NP_001071178.2 Q1W6H9 F110C_HUMAN family with sequence similarity 110, member C 256 microtubule|microtubule organizing center|spindle pole central_nervous_system(1)|kidney(1)|lung(2) 4 all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.00221) all cancers(51;0.000815)|Epithelial(75;0.00379)|OV - Ovarian serous cystadenocarcinoma(76;0.0127)|GBM - Glioblastoma multiforme(21;0.232) GCCGCTGCCGGAGGTGGCGAC 0.697000 10 28 0 0 1 0 0 ZSWIM1 90204 broad.mit.edu 37 20 44511955 44511955 + Missense_Mutation SNP G G A TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr20:44511955G>A ENST00000372523.1 + 2 819 c.724G>A c.(724-726)Gct>Act p.A242T ZSWIM1_ENST00000372520.1_Missense_Mutation_p.A242T NM_080603.4 NP_542170.3 Q9BR11 ZSWM1_HUMAN zinc finger, SWIM-type containing 1 242 zinc ion binding breast(1)|endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|skin(1) 13 Myeloproliferative disorder(115;0.028) CATCTGGCTGGCTCACCGCTG 0.577000 4 62 0 0 1 0 0 FSHR 2492 broad.mit.edu 37 2 49216159 49216159 + Missense_Mutation SNP C C T TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr2:49216159C>T ENST00000406846.2 - 6 600 c.481G>A c.(481-483)Gaa>Aaa p.E161K FSHR_ENST00000346173.3_Missense_Mutation_p.E161K|FSHR_ENST00000541117.1_5'UTR|FSHR_ENST00000469138.1_5'UTR|FSHR_ENST00000304421.4_Intron NM_000145.3 NP_000136.2 P23945 FSHR_HUMAN follicle stimulating hormone receptor 161 female gamete generation|male gonad development|spermatogenesis integral to membrane|plasma membrane follicle-stimulating hormone receptor activity|protein binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 73 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094) GAATTTCTTTCAATTGTGTGG 0.333000 Gonadal Dysgenesis, 46 XX 9 44 0 0 1 0 0 DNAH8 1769 broad.mit.edu 37 6 38942235 38942235 + Missense_Mutation SNP T T C TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr6:38942235T>C ENST00000359357.3 + 83 12367 c.12113T>C c.(12112-12114)cTg>cCg p.L4038P DNAH8_ENST00000441566.1_Missense_Mutation_p.L4002P dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 CAAGACCTTCTGGACATCAGT 0.418000 31 104 0 0 1 0 0 NEBL 10529 broad.mit.edu 37 10 21098748 21098748 + Silent SNP G G C TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr10:21098748G>C ENST00000377122.4 - 25 2994 c.2598C>G c.(2596-2598)ctC>ctG p.L866L NEBL_ENST00000377159.4_Intron|NEBL_ENST00000417816.2_Intron NM_006393.2 NP_006384.1 O76041 NEBL_HUMAN nebulette 866 Linker. regulation of actin filament length actin binding|structural constituent of muscle NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 AGAGCATATGGAGACTTCTAG 0.423000 16 67 0 0 1 0 0 FCGBP 8857 broad.mit.edu 37 19 40368706 40368706 + Silent SNP G G A TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr19:40368706G>A ENST00000221347.6 - 28 12649 c.12642C>T c.(12640-12642)tgC>tgT p.C4214C NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 4214 VWFD 10. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) CGCAGAGCCCGCACACTGCGC 0.607000 6 668 0 0 1 0 0 HEPH 9843 broad.mit.edu 37 X 65474920 65474920 + Silent SNP C C T TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chrX:65474920C>T ENST00000519389.1 + 16 2948 c.2769C>T c.(2767-2769)ggC>ggT p.G923G HEPH_ENST00000336279.5_Silent_p.G602G|HEPH_ENST00000419594.1_Silent_p.G680G|HEPH_ENST00000374727.3_Silent_p.G872G|HEPH_ENST00000343002.2_Silent_p.G869G|HEPH_ENST00000441993.2_Silent_p.G872G Q9BQS7 HEPH_HUMAN hephaestin 869 Plastocyanin-like 6. cellular iron ion homeostasis|copper ion transport|transmembrane transport integral to membrane|plasma membrane copper ion binding|oxidoreductase activity endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 AGAGGTCTGGCCCTGGGCCCA 0.493000 22 68 0 0 1 0 0 ZNF394 84124 broad.mit.edu 37 7 99097278 99097278 + Missense_Mutation SNP C C T TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr7:99097278C>T ENST00000337673.6 - 1 642 c.439G>A c.(439-441)Gat>Aat p.D147N ZNF394_ENST00000394177.3_5'UTR|ZNF394_ENST00000426306.2_Missense_Mutation_p.D147N|ZNF789_ENST00000493485.1_Intron|ZNF789_ENST00000494186.1_Intron NM_032164.2 NP_115540.2 Q53GI3 ZN394_HUMAN zinc finger protein 394 147 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(5)|stomach(1)|urinary_tract(1) 16 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) GAGGTTCCATCGAGCGCTCGC 0.622000 26 137 0 0 1 0 0 TMEM241 85019 broad.mit.edu 37 18 20964956 20964956 + Missense_Mutation SNP C C G TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr18:20964956C>G ENST00000383233.3 - 5 407 c.355G>C c.(355-357)Gag>Cag p.E119Q TMEM241_ENST00000399707.1_Missense_Mutation_p.E93Q|TMEM241_ENST00000542162.1_Missense_Mutation_p.E119Q|TMEM241_ENST00000450466.2_5'UTR NM_032933.4 NP_116322.3 Q24JQ0 CR045_HUMAN transmembrane protein 241 119 integral to membrane TCGTTTACCTCTTTCTGAAAA 0.368000 18 66 0 0 1 0 0 CYP3A4 1576 broad.mit.edu 37 7 99359861 99359861 + Missense_Mutation SNP C C G TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr7:99359861C>G ENST00000354593.2 - 6 709 c.606G>C c.(604-606)caG>caC p.Q202H CYP3A4_ENST00000336411.2_Missense_Mutation_p.Q352H P08684 CP3A4_HUMAN cytochrome P450, family 3, subfamily A, polypeptide 4 352 alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process cell surface|endoplasmic reticulum membrane|integral to membrane|microsome albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2) 18 Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228) Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909) GATACTCCATCTGTAGCACAG 0.398000 20 66 0 0 1 0 0 ITGA2B 3674 broad.mit.edu 37 17 42452084 42452084 + Missense_Mutation SNP G G C TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr17:42452084G>C ENST00000262407.5 - 28 2917 c.2886C>G c.(2884-2886)aaC>aaG p.N962K ITGA2B_ENST00000353281.4_Intron NM_000419.3 NP_000410.2 P08514 ITA2B_HUMAN integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41) 962 axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation integrin complex|platelet alpha granule membrane identical protein binding|receptor activity biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.191) Tirofiban(DB00775) GGGAGGACACGTTGAACCATG 0.617000 15 52 0 0 1 0 0 ZBBX 79740 broad.mit.edu 37 3 167077760 167077760 + Silent SNP C C A TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr3:167077760C>A ENST00000392766.2 - 8 670 c.330G>T c.(328-330)gtG>gtT p.V110V ZBBX_ENST00000455345.2_Silent_p.V110V|ZBBX_ENST00000469220.1_Intron|ZBBX_ENST00000392767.2_Silent_p.V110V|ZBBX_ENST00000307529.5_Silent_p.V110V|ZBBX_ENST00000392764.1_Silent_p.V81V NM_001199201.1|NM_024687.3 NP_001186130.1|NP_078963.2 A8MT70 ZBBX_HUMAN zinc finger, B-box domain containing 110 intracellular zinc ion binding NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 70 CTGTTGGTTTCACTGGCTCTG 0.303000 11 39 1.58986e-06 1.61953e-06 1 1 0 CWC25 54883 broad.mit.edu 37 17 36963199 36963199 + Nonsense_Mutation SNP G G A TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr17:36963199G>A ENST00000225428.4 - 7 1018 c.721C>T c.(721-723)Cag>Tag p.Q241* CWC25_ENST00000536127.1_Nonsense_Mutation_p.Q178* NM_017748.3 NP_060218.1 Q9NXE8 CWC25_HUMAN CWC25 spliceosome-associated protein homolog (S. cerevisiae) 241 central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1) 14 AGAGGACCCTGAAGACCCTGG 0.507000 21 67 0 0 1 0 0 KDM5B 10765 broad.mit.edu 37 1 202698923 202698923 + Nonsense_Mutation SNP G G T TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr1:202698923G>T ENST00000367265.3 - 26 5573 c.4409C>A c.(4408-4410)tCa>tAa p.S1470* KDM5B_ENST00000367264.2_Nonsense_Mutation_p.S1506* NM_006618.3 NP_006609.3 Q9UGL1 KDM5B_HUMAN lysine (K)-specific demethylase 5B 1470 negative regulation of transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding breast(2)|ovary(2)|skin(1)|urinary_tract(1) 6 GGATGTGTCTGAGGGCAGGGA 0.483000 56 164 2.84144e-21 3.06606e-21 1 1 0 SARDH 1757 broad.mit.edu 37 9 136578218 136578218 + Silent SNP C C G TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr9:136578218C>G ENST00000371872.4 - 9 1436 c.1179G>C c.(1177-1179)ctG>ctC p.L393L SARDH_ENST00000422262.2_Silent_p.L225L|SARDH_ENST00000439388.1_Silent_p.L393L NM_007101.3 NP_009032.2 Q9UL12 SARDH_HUMAN sarcosine dehydrogenase 393 glycine catabolic process mitochondrial matrix aminomethyltransferase activity|sarcosine dehydrogenase activity central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 44 OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05) CCTCCCCCATCAGGGGCTTGT 0.612000 14 19 0 0 1 0 0 POLR3GL 84265 broad.mit.edu 37 1 145457071 145457071 + Nonsense_Mutation SNP C C A TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr1:145457071C>A ENST00000369314.1 - 7 596 c.490G>T c.(490-492)Gag>Tag p.E164* POLR3GL_ENST00000369313.3_Nonsense_Mutation_p.E141* NM_032305.1 NP_115681.1 Q9BT43 RPC7L_HUMAN polymerase (RNA) III (DNA directed) polypeptide G (32kD)-like 164 Glu-rich. endometrium(2)|large_intestine(1)|lung(1) 4 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) tcatcctcctctGAAGTTACT 0.443000 5 36 0.184627 0.184627 1 1 0 ZNF511 118472 broad.mit.edu 37 10 135165854 135165854 + Silent SNP C C T TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr10:135165854C>T ENST00000368554.4 + 8 865 c.843C>T c.(841-843)ggC>ggT p.G281G PRAP1_ENST00000423766.1_Silent_p.G123G|PRAP1_ENST00000433452.2_Silent_p.G122G|PRAP1_ENST00000458230.1_Silent_p.G113G|PRAP1_ENST00000463201.1_3'UTR Q8NB15 ZN511_HUMAN zinc finger protein 511 0 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1) 8 all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175) all cancers(32;7.56e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.15e-06)|Epithelial(32;9.99e-06) AGGACCAGGGCGAGGAGAGGC 0.652000 31 110 0 0 1 0 0 CCDC62 84660 broad.mit.edu 37 12 123265739 123265739 + Missense_Mutation SNP C C G TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr12:123265739C>G ENST00000253079.6 + 3 602 c.258C>G c.(256-258)atC>atG p.I86M CCDC62_ENST00000392441.4_Missense_Mutation_p.I86M|CCDC62_ENST00000537566.1_5'UTR NM_201435.4 NP_958843.2 Q6P9F0 CCD62_HUMAN coiled-coil domain containing 62 86 cytoplasm|nucleus breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1) 20 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206) CTGAAATAATCAGGTCACTCA 0.383000 22 86 0 0 1 0 0 KRT33A 3883 broad.mit.edu 37 17 39502764 39502764 + Missense_Mutation SNP C C T rs142473669 TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr17:39502764C>T ENST00000007735.3 - 6 1077 c.1033G>A c.(1033-1035)Gtg>Atg p.V345M NM_004138.3 NP_004129.2 O76009 KT33A_HUMAN keratin 33A 345 Coil 2.|Rod. intermediate filament protein binding|structural molecule activity endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2) 21 Breast(137;0.000496) CGCGCCCGCACGTCCAGCAGC 0.607000 31 121 0 0 1 0 0 RHOV 171177 broad.mit.edu 37 15 41165520 41165520 + Silent SNP G G A TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr15:41165520G>A ENST00000220507.4 - 3 596 c.447C>T c.(445-447)gaC>gaT p.D149D NM_133639.3 NP_598378.3 Q96L33 RHOV_HUMAN ras homolog family member V 149 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|endosome membrane|plasma membrane GTP binding|metal ion binding central_nervous_system(1)|large_intestine(1) 2 all_cancers(109;1.42e-13)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243) GBM - Glioblastoma multiforme(113;2.58e-05)|COAD - Colon adenocarcinoma(120;0.149)|BRCA - Breast invasive adenocarcinoma(123;0.163) CGTTGACATCGTCCCTCAGGT 0.647000 37 114 0 0 1 0 0 MYH14 79784 broad.mit.edu 37 19 50795567 50795567 + Missense_Mutation SNP G G A TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr19:50795567G>A ENST00000440075.2 + 37 5224 c.5177G>A c.(5176-5178)cGg>cAg p.R1726Q MYH14_ENST00000262269.8_Missense_Mutation_p.R1726Q|MYH14_ENST00000425460.1_Missense_Mutation_p.R1693Q|MYH14_ENST00000376970.2_Missense_Mutation_p.R1718Q|MYH14_ENST00000598205.1_Missense_Mutation_p.R1693Q|MYH14_ENST00000601313.1_Missense_Mutation_p.R1726Q|MYH14_ENST00000596571.1_Missense_Mutation_p.R1685Q Q7Z406 MYH14_HUMAN myosin, heavy chain 14, non-muscle 1685 axon guidance|regulation of cell shape myosin complex actin binding|ATP binding|calmodulin binding|motor activity central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 46 all_neural(266;0.0571)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195) CGCACCTCCCGGGAGGAGATC 0.632000 3 7 0 0 1 0 0 NRP2 8828 broad.mit.edu 37 2 206608073 206608073 + Nonsense_Mutation SNP C C T TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr2:206608073C>T ENST00000360409.3 + 9 2229 c.1438C>T c.(1438-1440)Cag>Tag p.Q480* NRP2_ENST00000540841.1_Nonsense_Mutation_p.Q480*|NRP2_ENST00000272849.3_Nonsense_Mutation_p.Q480*|NRP2_ENST00000417189.1_Nonsense_Mutation_p.Q480*|NRP2_ENST00000357785.5_Nonsense_Mutation_p.Q480*|NRP2_ENST00000412873.2_Nonsense_Mutation_p.Q480*|NRP2_ENST00000355117.4_Nonsense_Mutation_p.Q480*|NRP2_ENST00000540178.1_Nonsense_Mutation_p.Q480*|NRP2_ENST00000357118.4_Nonsense_Mutation_p.Q480* NM_003872.2|NM_201266.1|NM_201279.1 NP_003863.2|NP_957718.1|NP_958436.1 O60462 NRP2_HUMAN neuropilin 2 480 F5/8 type C 2. angiogenesis|axon guidance|cell adhesion integral to membrane|membrane fraction|plasma membrane heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2) 52 TCGAATCCCTCAGGCCCAGCC 0.617000 53 66 0 0 1 0 0 C6orf15 29113 broad.mit.edu 37 6 31079539 31079539 + Silent SNP G G A TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr6:31079539G>A ENST00000259870.3 - 2 600 c.597C>T c.(595-597)ctC>ctT p.L199L NM_014070.2 NP_054789.2 Q6UXA7 CF015_HUMAN chromosome 6 open reading frame 15 199 endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|stomach(1) 17 CCCTGTGGATGAGAGACCAGG 0.617000 16 48 0 0 1 0 0 NLN 57486 broad.mit.edu 37 5 65118740 65118740 + Silent SNP G G A TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr5:65118740G>A ENST00000380985.5 + 13 2290 c.2112G>A c.(2110-2112)ccG>ccA p.P704P NLN_ENST00000515595.1_3'UTR|NLN_ENST00000502464.1_Silent_p.P600P NM_020726.4 NP_065777.1 Q9BYT8 NEUL_HUMAN neurolysin (metallopeptidase M3 family) 704 P -> S (in dbSNP:rs6860508). proteolysis mitochondrial intermembrane space metal ion binding|metalloendopeptidase activity central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 26 Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186) UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616) TGCATGCTCCGTGAACTGGGG 0.498000 26 93 0 0 1 0 0 ARHGEF10 9639 broad.mit.edu 37 8 1812538 1812538 + Missense_Mutation SNP G G A TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr8:1812538G>A ENST00000518288.1 + 6 719 c.556G>A c.(556-558)Gaa>Aaa p.E186K ARHGEF10_ENST00000262112.6_Missense_Mutation_p.E186K|ARHGEF10_ENST00000520359.1_Missense_Mutation_p.E162K|ARHGEF10_ENST00000398560.1_Missense_Mutation_p.E186K|ARHGEF10_ENST00000349830.3_Splice_Site|ARHGEF10_ENST00000398564.1_Missense_Mutation_p.E186K O15013 ARHGA_HUMAN Rho guanine nucleotide exchange factor (GEF) 10 186 centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis centrosome|cytosol|soluble fraction kinesin binding|Rho guanyl-nucleotide exchange factor activity endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1) 35 Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834) COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718) TTTCCCAGCAGAAACACCAGA 0.448000 38 85 0 0 1 0 0 ITGA10 8515 broad.mit.edu 37 1 145530360 145530360 + Missense_Mutation SNP T T C TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr1:145530360T>C ENST00000369304.3 + 6 750 c.575T>C c.(574-576)gTa>gCa p.V192A ITGA10_ENST00000538811.1_Missense_Mutation_p.V61A|ITGA10_ENST00000539363.1_Missense_Mutation_p.V49A NM_003637.3 NP_003628.2 O75578 ITA10_HUMAN integrin, alpha 10 192 VWFA. cell-matrix adhesion|integrin-mediated signaling pathway integrin complex collagen binding|receptor activity NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) CGAAGACTGGTAGGGAAACTG 0.488000 28 106 0 0 1 0 0 MAGEC1 9947 broad.mit.edu 37 X 140994102 140994102 + Silent SNP G G A TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chrX:140994102G>A ENST00000285879.4 + 4 1198 c.912G>A c.(910-912)caG>caA p.Q304Q MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 304 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) CTCCTCTCCAGATTCCTGTGA 0.498000 HNSCC(15;0.026) 73 403 0 0 1 0 0 TDRKH 11022 broad.mit.edu 37 1 151749034 151749034 + Missense_Mutation SNP C C G TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr1:151749034C>G ENST00000368822.1 - 7 1558 c.925G>C c.(925-927)Gaa>Caa p.E309Q TDRKH_ENST00000368823.1_Missense_Mutation_p.E305Q|TDRKH_ENST00000368827.6_Missense_Mutation_p.E309Q|TDRKH_ENST00000458431.2_Missense_Mutation_p.E309Q|TDRKH_ENST00000368825.3_Missense_Mutation_p.E264Q|TDRKH_ENST00000440583.2_Missense_Mutation_p.E85Q|TDRKH_ENST00000368824.3_Missense_Mutation_p.E309Q Q9Y2W6 TDRKH_HUMAN tudor and KH domain containing 309 RNA binding breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 26 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) ACGTAGACTTCTAGGTACTCA 0.493000 33 79 0 0 1 0 0 CD22 933 broad.mit.edu 37 19 35831832 35831832 + Missense_Mutation SNP G G C TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr19:35831832G>C ENST00000085219.5 + 7 1364 c.1298G>C c.(1297-1299)cGa>cCa p.R433P CD22_ENST00000270311.6_Missense_Mutation_p.R313P|CD22_ENST00000419549.2_Missense_Mutation_p.R261P|CD22_ENST00000544992.2_Missense_Mutation_p.R433P|CD22_ENST00000341773.6_Missense_Mutation_p.R256P|CD22_ENST00000594250.1_Missense_Mutation_p.R256P|CD22_ENST00000536635.2_Missense_Mutation_p.R345P NM_001771.3 NP_001762.2 P20273 CD22_HUMAN CD22 molecule 433 Ig-like C2-type 4. cell adhesion protein binding|sugar binding breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 54 all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162) Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417) OspA lipoprotein(DB00045) ATGCCGATTCGAGAAGGAGAC 0.512000 26 96 0 0 1 0 0 SMG1 23049 broad.mit.edu 37 16 18851040 18851040 + Missense_Mutation SNP C C G TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr16:18851040C>G ENST00000446231.2 - 42 7337 c.6925G>C c.(6925-6927)Gaa>Caa p.E2309Q SMG1_ENST00000389467.3_Missense_Mutation_p.E2309Q Q96Q15 SMG1_HUMAN SMG1 phosphatidylinositol 3-kinase-related kinase 2309 PI3K/PI4K. DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation cytoplasm|nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1) 92 CTCCACCATTCATCAGGTGTT 0.453000 27 91 0 0 1 0 0 TRIP10 9322 broad.mit.edu 37 19 6742999 6742999 + Silent SNP C C T rs148560112 byFrequency TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr19:6742999C>T ENST00000313244.9 + 4 254 c.219C>T c.(217-219)ttC>ttT p.F73F TRIP10_ENST00000596758.1_Silent_p.F73F|TRIP10_ENST00000596543.1_3'UTR|TRIP10_ENST00000313285.8_Silent_p.F73F|TRIP10_ENST00000600428.1_5'UTR Q15642 CIP4_HUMAN thyroid hormone receptor interactor 10 73 Induction of membrane tubulation.|Required for podosome formation and interaction with AKAP9 and microtubules.|Required for translocation to the plasma membrane in response to insulin (By similarity). actin cytoskeleton organization|cell communication|endocytosis|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell cortex|cell projection|cytoskeleton|cytosol|Golgi apparatus|lysosome|perinuclear region of cytoplasm|phagocytic cup GTPase activator activity|identical protein binding|lipid binding p.F73F(1) NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1) 16 AACAGTCCTTCGTACAGATTC 0.582000 23 82 0 0 1 0 0 HIST1H2BN 8341 broad.mit.edu 37 6 27806511 27806511 + Missense_Mutation SNP G G T TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr6:27806511G>T ENST00000606613.1 + 1 133 c.72G>T c.(70-72)aaG>aaT p.K24N HIST1H2BN_ENST00000396980.3_Missense_Mutation_p.K24N Q99877 H2B1N_HUMAN histone cluster 1, H2bn 24 nucleosome assembly nucleosome|nucleus DNA binding central_nervous_system(1)|endometrium(3)|lung(3)|prostate(1) 8 AGGCCCAGAAGAAGGACGGCA 0.587000 51 208 2.0833e-19 2.23914e-19 1 1 0 ACP2 53 broad.mit.edu 37 11 47269208 47269208 + Missense_Mutation SNP G G C TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr11:47269208G>C ENST00000256997.3 - 3 397 c.281C>G c.(280-282)tCt>tGt p.S94C ACP2_ENST00000527256.1_Missense_Mutation_p.S62C|ACP2_ENST00000444355.2_Missense_Mutation_p.S94C|ACP2_ENST00000537863.1_5'UTR|ACP2_ENST00000533929.1_Missense_Mutation_p.S66C|ACP2_ENST00000529444.1_Missense_Mutation_p.S94C|ACP2_ENST00000529788.1_Missense_Mutation_p.S94C|ACP2_ENST00000530453.1_Missense_Mutation_p.S94C NM_001610.2 NP_001601.1 P11117 PPAL_HUMAN acid phosphatase 2, lysosomal 94 integral to membrane|lysosomal lumen|lysosomal membrane acid phosphatase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1) 10 CCGGTGATAAGAGGTGTTTAG 0.592000 35 96 0 0 1 0 0 SORCS1 114815 broad.mit.edu 37 10 108427467 108427467 + Missense_Mutation SNP C C A TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr10:108427467C>A ENST00000263054.6 - 17 2290 c.2283G>T c.(2281-2283)caG>caT p.Q761H SORCS1_ENST00000369698.1_Missense_Mutation_p.Q296H|SORCS1_ENST00000344440.6_Missense_Mutation_p.Q761H NM_001206570.1|NM_052918.4 NP_001193499.1|NP_443150.3 Q8WY21 SORC1_HUMAN sortilin-related VPS10 domain containing receptor 1 761 integral to membrane neuropeptide receptor activity|protein binding breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 127 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) TGAGGTAACTCTGTCCCAAGC 0.483000 5 24 0.000602214 0.000611169 1 1 0 MUC5B 727897 broad.mit.edu 37 11 1268340 1268340 + Silent SNP A A T TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr11:1268340A>T ENST00000447027.1 + 31 10297 c.10239A>T c.(10237-10239)ccA>ccT p.P3413P RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Silent_p.P3410P Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 3410 17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich. Missing (in Ref. 6; AAB61398). cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) cctcaactccagggacaactc 0.637000 3 13 0 0 1 0 0 LRRC49 54839 broad.mit.edu 37 15 71302194 71302194 + Missense_Mutation SNP G G A TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr15:71302194G>A ENST00000260382.5 + 13 1716 c.1456G>A c.(1456-1458)Gca>Aca p.A486T LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000544974.2_Missense_Mutation_p.A476T|LRRC49_ENST00000560691.1_Missense_Mutation_p.A192T|LRRC49_ENST00000560158.2_Missense_Mutation_p.A174T|LRRC49_ENST00000443425.2_Missense_Mutation_p.A442T|LRRC49_ENST00000560369.1_Missense_Mutation_p.A491T NM_001199017.1|NM_017691.3 NP_001185946.1|NP_060161.2 Q8IUZ0 LRC49_HUMAN leucine rich repeat containing 49 486 cytoplasm|microtubule breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3) 34 GCAATTTAACGCACTAGCCCA 0.363000 34 90 0 0 1 0 0 GZF1 64412 broad.mit.edu 37 20 23345286 23345286 + Missense_Mutation SNP C C T TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr20:23345286C>T ENST00000338121.5 + 2 343 c.266C>T c.(265-267)tCa>tTa p.S89L GZF1_ENST00000377051.2_Missense_Mutation_p.S89L|GZF1_ENST00000544236.1_Intron|GZF1_ENST00000542987.1_Intron Q9H116 GZF1_HUMAN GDNF-inducible zinc finger protein 1 89 BTB. transcription, DNA-dependent nucleolus|nucleoplasm sequence-specific DNA binding|zinc ion binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2) 24 Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135) GACTTTGCTTCATTTCTTGAG 0.413000 23 58 0 0 1 0 0 SACS 26278 broad.mit.edu 37 13 23904625 23904625 + Missense_Mutation SNP C C T TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr13:23904625C>T ENST00000382298.3 - 10 13978 c.13390G>A c.(13390-13392)Gac>Aac p.D4464N SACS_ENST00000402364.1_Missense_Mutation_p.D3714N|SACS_ENST00000382292.3_Missense_Mutation_p.D4464N NM_014363.4 NP_055178.3 Q9NZJ4 SACS_HUMAN spastic ataxia of Charlevoix-Saguenay (sacsin) 4464 HEPN. 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) TTATGAAGGTCATTCCTGGCA 0.458000 45 191 0 0 1 0 0 ANKRD11 29123 broad.mit.edu 37 16 89350234 89350234 + Nonsense_Mutation SNP G G A TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr16:89350234G>A ENST00000301030.4 - 9 3176 c.2716C>T c.(2716-2718)Cga>Tga p.R906* ANKRD11_ENST00000378330.2_Nonsense_Mutation_p.R906* NM_001256183.1|NM_013275.5 NP_001243112.1|NP_037407.4 Q6UB99 ANR11_HUMAN ankyrin repeat domain 11 906 Lys-rich. nucleus p.R906R(1) breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 83 all_hematologic(23;0.00824)|Colorectal(91;0.0475) Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142) TCCTTCTTTCGGAAGAAGGGC 0.527000 25 60 0 0 1 0 0 GIGYF1 64599 broad.mit.edu 37 7 100283874 100283874 + Missense_Mutation SNP C C G TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr7:100283874C>G ENST00000275732.5 - 8 2086 c.877G>C c.(877-879)Gag>Cag p.E293Q GIGYF1_ENST00000471340.2_Intron NM_022574.4 NP_072096.2 O75420 PERQ1_HUMAN GRB10 interacting GYF protein 1 293 central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 23 Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817) AGGCACCACTCTGGGAGCCCA 0.627000 20 52 0 0 1 0 0 PLCL1 5334 broad.mit.edu 37 2 198949559 198949559 + Nonsense_Mutation SNP C C T TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr2:198949559C>T ENST00000428675.1 + 2 1716 c.1318C>T c.(1318-1320)Cga>Tga p.R440* PLCL1_ENST00000437704.2_Nonsense_Mutation_p.R342* NM_006226.3 NP_006217.3 Q15111 PLCL1_HUMAN phospholipase C-like 1 440 PI-PLC X-box. intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Quinacrine(DB01103) AATGGGCTGTCGAAGCGTTGA 0.408000 16 76 0 0 1 0 0 COL6A3 1293 broad.mit.edu 37 2 238303539 238303539 + Missense_Mutation SNP C C A TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr2:238303539C>A ENST00000295550.4 - 3 852 c.400G>T c.(400-402)Gct>Tct p.A134S COL6A3_ENST00000353578.4_Intron|COL6A3_ENST00000347401.3_Missense_Mutation_p.A134S|COL6A3_ENST00000346358.4_Missense_Mutation_p.A134S|COL6A3_ENST00000472056.1_Intron|COL6A3_ENST00000392004.3_Intron|COL6A3_ENST00000409809.1_Intron|COL6A3_ENST00000392003.2_Intron NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 134 Nonhelical region.|VWFA 1. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) CGGCTTCCAGCAGCCTTGGTG 0.488000 79 83 2.32478e-39 2.57994e-39 1 1 0 TNK1 8711 broad.mit.edu 37 17 7286862 7286862 + Missense_Mutation SNP G G C TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr17:7286862G>C ENST00000570896.1 + 5 799 c.353G>C c.(352-354)aGa>aCa p.R118T TNK1_ENST00000576812.1_Missense_Mutation_p.R118T|TNK1_ENST00000311668.2_Missense_Mutation_p.R118T Q13470 TNK1_HUMAN tyrosine kinase, non-receptor, 1 118 Protein kinase. R -> K (in Ref. 2; AAC99412). protein autophosphorylation membrane ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(2)|pancreas(1) 16 Prostate(122;0.157) GCTGTTTGCAGAGGGGAGCTG 0.657000 6 31 0 0 1 0 0 KEAP1 9817 broad.mit.edu 37 19 10602926 10602926 + Missense_Mutation SNP C C T TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr19:10602926C>T ENST00000171111.5 - 3 1199 c.652G>A c.(652-654)Gag>Aag p.E218K KEAP1_ENST00000588024.1_5'UTR|KEAP1_ENST00000393623.2_Missense_Mutation_p.E218K NM_203500.1 NP_987096.1 Q14145 KEAP1_HUMAN kelch-like ECH-associated protein 1 218 BACK. regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|midbody|nucleus protein binding p.E218Q(1) breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 92 OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05) AAGAACTCCTCTTGCTTGGCC 0.607000 4 45 0 0 1 0 0 OR52N4 390072 broad.mit.edu 37 11 5776059 5776059 + Missense_Mutation SNP C C T TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr11:5776059C>T ENST00000317254.3 + 1 137 c.89C>T c.(88-90)tCc>tTc p.S30F TRIM5_ENST00000380027.1_Intron NM_001005175.2 NP_001005175.3 Q8NGI2 O52N4_HUMAN olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene) 30 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 26 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197) CTCTGGATTTCCTTCCCATTC 0.438000 32 124 0 0 1 0 0 CORIN 10699 broad.mit.edu 37 4 47788783 47788783 + Missense_Mutation SNP G G A TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr4:47788783G>A ENST00000273857.4 - 3 367 c.368C>T c.(367-369)aCg>aTg p.T123M CORIN_ENST00000504584.1_Missense_Mutation_p.T123M|CORIN_ENST00000508498.1_De_novo_Start_InFrame|CORIN_ENST00000505909.1_Missense_Mutation_p.T123M|CORIN_ENST00000502252.1_Intron NM_006587.2 NP_006578.2 Q9Y5Q5 CORIN_HUMAN corin, serine peptidase 123 peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide integral to membrane|plasma membrane scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2) 79 AGAAGCATCCGTAGTCCAGGC 0.453000 25 74 0 0 1 0 0 SCIMP 388325 broad.mit.edu 37 17 5124583 5124583 + Splice_Site SNP C C T TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr17:5124583C>T ENST00000574081.1 - 3 312 c.209_splice c.e3+1 p.E70_splice SCIMP_ENST00000574297.1_Splice_Site_p.E70_splice|SCIMP_ENST00000399600.4_Splice_Site_p.E63_splice|RP11-333E1.1_ENST00000575601.1_RNA|SCIMP_ENST00000571800.1_Splice_Site_p.E63_splice|RP11-333E1.1_ENST00000571689.1_RNA NM_001271842.1|NM_207103.3 NP_001258771.1|NP_996986.1 Q6UWF3 CQ087_HUMAN SLP adaptor and CSK interacting membrane protein 70 integral to membrane CCTACTTACTCATACATCTTT 0.458000 30 128 0 0 1 0 0 FAM49B 51571 broad.mit.edu 37 8 130867886 130867886 + Missense_Mutation SNP G G A TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr8:130867886G>A ENST00000519824.2 - 6 682 c.409C>T c.(409-411)Cat>Tat p.H137Y FAM49B_ENST00000517654.1_Missense_Mutation_p.H137Y|FAM49B_ENST00000523509.1_Missense_Mutation_p.H137Y|FAM49B_ENST00000401979.2_Missense_Mutation_p.H137Y|FAM49B_ENST00000518879.1_5'UTR|FAM49B_ENST00000519110.1_Missense_Mutation_p.H137Y|FAM49B_ENST00000519540.1_Missense_Mutation_p.H137Y|FAM49B_ENST00000522941.1_5'UTR|FAM49B_ENST00000522250.1_5'UTR|FAM49B_ENST00000522746.1_Missense_Mutation_p.H137Y NM_016623.4 NP_057707.3 Q9NUQ9 FA49B_HUMAN family with sequence similarity 49, member B 137 kidney(1)|large_intestine(6)|lung(4)|prostate(1) 12 Ovarian(5;0.000567)|Esophageal squamous(12;0.00693)|Acute lymphoblastic leukemia(118;0.155) LUAD - Lung adenocarcinoma(14;0.0989) AGTGTGAAATGAAGAATTTCT 0.423000 42 73 0 0 1 0 0 TDRKH 11022 broad.mit.edu 37 1 151751715 151751715 + Missense_Mutation SNP C C T TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr1:151751715C>T ENST00000368822.1 - 5 1058 c.425G>A c.(424-426)aGa>aAa p.R142K TDRKH_ENST00000368823.1_Missense_Mutation_p.R138K|TDRKH_ENST00000368827.6_Missense_Mutation_p.R142K|TDRKH_ENST00000484421.1_5'UTR|TDRKH_ENST00000458431.2_Missense_Mutation_p.R142K|TDRKH_ENST00000368825.3_Intron|TDRKH_ENST00000440583.2_5'UTR|TDRKH_ENST00000368824.3_Missense_Mutation_p.R142K Q9Y2W6 TDRKH_HUMAN tudor and KH domain containing 142 KH 2. RNA binding breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 26 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) CTCGCCGCCTCTCCCTACATT 0.398000 21 59 0 0 1 0 0 CREBBP 1387 broad.mit.edu 37 16 3779766 3779766 + Nonsense_Mutation SNP G G C TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr16:3779766G>C ENST00000262367.5 - 31 6091 c.5282C>G c.(5281-5283)tCa>tGa p.S1761* CREBBP_ENST00000382070.3_Nonsense_Mutation_p.S1723* NM_004380.2 NP_004371.2 Q92793 CBP_HUMAN CREB binding protein 1761 Interaction with TRERF1. cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding p.S1761*(1) NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21) 295 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) GGGGCTCTTTGACTGTGGCTC 0.632000 """T, N, F, Mis, O""" """MLL, MORF, RUNXBP2""" """ALL, AML, DLBCL, B-NHL """ Rubinstein-Taybi syndrome 10 39 0 0 1 0 0 C9orf84 158401 broad.mit.edu 37 9 114454229 114454229 + Missense_Mutation SNP G G A TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr9:114454229G>A ENST00000394779.3 - 23 3963 c.3719C>T c.(3718-3720)tCg>tTg p.S1240L C9orf84_ENST00000394777.4_Missense_Mutation_p.S1205L|C9orf84_ENST00000318737.4_Missense_Mutation_p.S1279L|C9orf84_ENST00000374287.3_Missense_Mutation_p.S1279L NM_001080551.1 NP_001074020.1 Q5VXU9 CI084_HUMAN chromosome 9 open reading frame 84 1279 breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 35 GATAGGGTCCGATACATCTTT 0.378000 22 113 0 0 1 0 0 IGLV5-45 28781 broad.mit.edu 37 22 22730636 22730636 + RNA SNP G G A rs149965450 by1000genomes TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr22:22730636G>A ENST00000390296.2 + 0 159 TGCACCTTGCGCAGTGGCATC 0.537000 11 162 0 0 1 0 0 ZNF558 148156 broad.mit.edu 37 19 8923829 8923829 + Missense_Mutation SNP C C T TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr19:8923829C>T ENST00000601372.1 - 8 1028 c.317G>A c.(316-318)aGa>aAa p.R106K ZNF558_ENST00000444186.2_Missense_Mutation_p.R35K|ZNF558_ENST00000301475.1_Missense_Mutation_p.R106K Q96NG5 ZN558_HUMAN zinc finger protein 558 106 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1) 15 TAGAATTCCTCTTTCCTCTGT 0.463000 6 10 0 0 1 0 0 INTS6 26512 broad.mit.edu 37 13 52026641 52026641 + Silent SNP C C A TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr13:52026641C>A ENST00000311234.4 - 1 493 c.21G>T c.(19-21)ctG>ctT p.L7L INTS6_ENST00000425000.1_5'UTR|INTS6_ENST00000442263.3_Silent_p.L7L|INTS6_ENST00000491723.1_5'UTR|INTS6_ENST00000398119.2_Intron|INTS6_ENST00000463928.1_Silent_p.L7L|INTS6-AS1_ENST00000596050.1_RNA|INTS6-AS1_ENST00000595424.1_RNA|INTS6-AS1_ENST00000595435.1_RNA|INTS6-AS1_ENST00000593672.1_RNA|INTS6-AS1_ENST00000594959.1_RNA|INTS6_ENST00000420668.2_Silent_p.L7L NM_012141.2 NP_036273.1 Q9UL03 INT6_HUMAN integrator complex subunit 6 7 VWFA. snRNA processing actin cytoskeleton|integrator complex protein binding|transmembrane receptor activity NS(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;7.7e-08) ACGTGTCTATCAGGAACAGTA 0.622000 17 86 2.94398e-08 3.03286e-08 1 1 0 WNT7A 7476 broad.mit.edu 37 3 13860852 13860852 + Silent SNP C C G TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr3:13860852C>G ENST00000285018.4 - 4 943 c.639G>C c.(637-639)acG>acC p.T213T NM_004625.3 NP_004616.2 O00755 WNT7A_HUMAN wingless-type MMTV integration site family, member 7A 213 activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 24 TGGTCCAGCACGTCTTGGTGG 0.607000 18 96 0 0 1 0 0 DSP 1832 broad.mit.edu 37 6 7562886 7562886 + Splice_Site SNP C C T TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr6:7562886C>T ENST00000379802.3 + 5 940 c.597_splice c.e5-1 p.A200_splice DSP_ENST00000418664.2_Splice_Site_p.A200_splice NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 200 Globular 1.|Interacts with plakophilin 1 and junction plakoglobin. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) GTGTCGCAGGCGGAGATGGAC 0.557000 46 164 0 0 1 0 0 C7orf49 78996 broad.mit.edu 37 7 134853635 134853635 + Missense_Mutation SNP G G A TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr7:134853635G>A ENST00000393114.3 - 2 221 c.40C>T c.(40-42)Ccc>Tcc p.P14S C7orf49_ENST00000459937.1_5'UTR|C7orf49_ENST00000424142.1_5'UTR|C7orf49_ENST00000430372.1_5'UTR|C7orf49_ENST00000483029.2_Intron Q9BWK5 MRI_HUMAN chromosome 7 open reading frame 49 14 cytoplasm endometrium(1)|large_intestine(4)|lung(1)|ovary(1) 7 AGCCATGAGGGAAGGACCCTC 0.502000 OREG0018340 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 22 106 0 0 1 0 0 CA5A 763 broad.mit.edu 37 16 87960549 87960549 + Missense_Mutation SNP G G A TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr16:87960549G>A ENST00000309893.2 - 2 210 c.145C>T c.(145-147)Cac>Tac p.H49Y CA5A_ENST00000568801.1_5'UTR NM_001739.1 NP_001730.1 P35218 CAH5A_HUMAN carbonic anhydrase VA, mitochondrial 49 one-carbon metabolic process mitochondrial matrix carbonate dehydratase activity|zinc ion binding large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 16 BRCA - Breast invasive adenocarcinoma(80;0.0513) CAGAGTGGGTGCACTGCAGGG 0.632000 4 12 0 0 1 0 0 RABGAP1 23637 broad.mit.edu 37 9 125751664 125751664 + Missense_Mutation SNP G G C TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr9:125751664G>C ENST00000373647.4 + 5 813 c.679G>C c.(679-681)Gag>Cag p.E227Q NM_012197.3 NP_036329.3 Q9Y3P9 RBGP1_HUMAN RAB GTPase activating protein 1 227 PID. cell cycle centrosome|cytosol|microtubule associated complex Rab GTPase activator activity|tubulin binding breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1) 41 TGGAACTCCTGAGAGTGACTG 0.418000 37 150 0 0 1 0 0 AHNAK 79026 broad.mit.edu 37 11 62291749 62291749 + Silent SNP T T A TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr11:62291749T>A ENST00000378024.4 - 5 10414 c.10140A>T c.(10138-10140)atA>atT p.I3380I AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 3380 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) TTGGACCTGTTATGTCAATAT 0.378000 30 119 0 0 1 0 0 ZNF733P 643955 broad.mit.edu 37 7 62752443 62752443 + RNA SNP G G C TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr7:62752443G>C ENST00000331425.6 - 0 992 NR_003952.1 CTTATGTCTAGTAAGGTTTGA 0.438000 3 41 0 0 1 0 0 UTRN 7402 broad.mit.edu 37 6 145095469 145095469 + Silent SNP C C T TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr6:145095469C>T ENST00000367545.3 + 59 8601 c.8601C>T c.(8599-8601)atC>atT p.I2867I UTRN_ENST00000367526.4_Silent_p.I422I NM_007124.2 NP_009055.2 P46939 UTRO_HUMAN utrophin 2867 Interaction with SYNM. muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 148 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) GTACAGCAATCAAAATCCGAA 0.308000 16 53 0 0 1 0 0 LRBA 987 broad.mit.edu 37 4 151246980 151246980 + Missense_Mutation SNP C C G TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr4:151246980C>G ENST00000535741.1 - 49 7906 c.7433G>C c.(7432-7434)aGa>aCa p.R2478T LRBA_ENST00000357115.3_Missense_Mutation_p.R2489T|LRBA_ENST00000507224.1_Missense_Mutation_p.R2478T|LRBA_ENST00000510413.1_Missense_Mutation_p.R2478T|LRBA_ENST00000503716.1_5'UTR P50851 LRBA_HUMAN LPS-responsive vesicle trafficking, beach and anchor containing 2489 BEACH. endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane protein binding breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 all_hematologic(180;0.151) GGCAGAACCTCTGGGAGGATG 0.458000 6 35 0 0 1 0 0 ZFP90 146198 broad.mit.edu 37 16 68598390 68598390 + Missense_Mutation SNP C C T TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr16:68598390C>T ENST00000570495.1 + 5 1992 c.1700C>T c.(1699-1701)tCt>tTt p.S567F RP11-615I2.7_ENST00000571720.1_RNA|ZFP90_ENST00000398253.2_Missense_Mutation_p.S567F|ZFP90_ENST00000563169.2_Missense_Mutation_p.S567F Q8TF47 ZFP90_HUMAN ZFP90 zinc finger protein 567 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 27 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946) CAAAGTTCATCTCTCATTCAG 0.433000 53 145 0 0 1 0 0 RRS1 23212 broad.mit.edu 37 8 67341423 67341423 + Missense_Mutation SNP G G C TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr8:67341423G>C ENST00000320270.2 + 1 161 c.57G>C c.(55-57)gaG>gaC p.E19D NM_015169.3 NP_055984.1 Q15050 RRS1_HUMAN RRS1 ribosome biogenesis regulator homolog (S. cerevisiae) 19 mitotic metaphase plate congression|ribosome biogenesis condensed nuclear chromosome|nucleolus kidney(2)|lung(2) 4 Lung NSC(129;0.197) Epithelial(68;0.0391)|all cancers(69;0.0898)|BRCA - Breast invasive adenocarcinoma(89;0.111)|OV - Ovarian serous cystadenocarcinoma(28;0.226) ACGAGGCAGAGAAGTTGCAAC 0.652000 OREG0018806 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 15 47 0 0 1 0 0 LZTR1 8216 broad.mit.edu 37 22 21349277 21349277 + Missense_Mutation SNP C C T rs148677674 by1000genomes TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr22:21349277C>T ENST00000215739.8 + 16 2263 c.1904C>T c.(1903-1905)cCg>cTg p.P635L LZTR1_ENST00000389355.3_Missense_Mutation_p.P616L|LZTR1_ENST00000479606.1_3'UTR NM_006767.3 NP_006758.2 Q8N653 LZTR1_HUMAN leucine-zipper-like transcription regulator 1 635 anatomical structure morphogenesis sequence-specific DNA binding transcription factor activity breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3) 42 all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195) AAGCAGCAGCCGCCCCCTCGC 0.607000 26 80 0 0 1 0 0 TNK1 8711 broad.mit.edu 37 17 7286819 7286819 + Missense_Mutation SNP G G C TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr17:7286819G>C ENST00000570896.1 + 5 756 c.310G>C c.(310-312)Gag>Cag p.E104Q TNK1_ENST00000576812.1_Missense_Mutation_p.E104Q|TNK1_ENST00000311668.2_Missense_Mutation_p.E104Q Q13470 TNK1_HUMAN tyrosine kinase, non-receptor, 1 104 protein autophosphorylation membrane ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(2)|pancreas(1) 16 Prostate(122;0.157) CCCTGAGCCAGAGGGGGGCCT 0.632000 7 22 0 0 1 0 0 FRY 10129 broad.mit.edu 37 13 32849050 32849050 + Silent SNP C C T TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr13:32849050C>T ENST00000380250.3 + 56 8704 c.8208C>T c.(8206-8208)atC>atT p.I2736I FRY_ENST00000542859.1_Silent_p.I106I NM_023037.2 NP_075463.2 Q5TBA9 FRY_HUMAN furry homolog (Drosophila) 2736 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 132 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) TCCGGGGAATCGGATCCAAAT 0.468000 37 114 0 0 1 0 0 DUSP18 150290 broad.mit.edu 37 22 31059759 31059759 + Missense_Mutation SNP G G A TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr22:31059759G>A ENST00000334679.3 - 2 737 c.232C>T c.(232-234)Cgt>Tgt p.R78C DUSP18_ENST00000461301.1_Intron|DUSP18_ENST00000403268.1_Intron|DUSP18_ENST00000407308.1_Missense_Mutation_p.R78C|DUSP18_ENST00000404885.1_Missense_Mutation_p.R78C NM_152511.3 NP_689724.3 Q8NEJ0 DUS18_HUMAN dual specificity phosphatase 18 78 cytoplasm|nucleus MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity large_intestine(1)|lung(1)|prostate(1)|skin(1) 4 TCACAGAGACGTGAGTTAGGG 0.522000 28 102 0 0 1 0 0 ACOT6 641372 broad.mit.edu 37 14 74086219 74086219 + Silent SNP G G A TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr14:74086219G>A ENST00000381139.1 + 2 631 c.300G>A c.(298-300)gcG>gcA p.A100A RP3-414A15.10_ENST00000555011.1_RNA NM_001037162.1 NP_001032239.1 Q3I5F7 ACOT6_HUMAN acyl-CoA thioesterase 6 100 cytosol carboxylesterase activity endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1) 7 BRCA - Breast invasive adenocarcinoma(234;0.00331) TGGAAAAGGCGCAGGTGCCCT 0.428000 4 141 0 0 1 0 0 FOXA1 3169 broad.mit.edu 37 14 38061414 38061414 + Missense_Mutation SNP G G A TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr14:38061414G>A ENST00000250448.2 - 2 636 c.575C>T c.(574-576)aCg>aTg p.T192M FOXA1_ENST00000540786.1_Missense_Mutation_p.T159M|FOXA1_ENST00000545425.2_5'UTR NM_004496.3 NP_004487.2 P55317 FOXA1_HUMAN forkhead box A1 192 chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development transcription factor complex DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|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|transcription regulatory region DNA binding breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12) 19 Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213) Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239) GBM - Glioblastoma multiforme(112;0.0222) CTCGCTCAGCGTGAGCATCTT 0.597000 6 147 0 0 1 0 0 HRAS 3265 broad.mit.edu 37 11 534285 534285 + Missense_Mutation SNP C C A rs104894226 TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr11:534285C>A ENST00000417302.1 - 2 225 c.38G>T c.(37-39)gGt>gTt p.G13V HRAS_ENST00000451590.1_Missense_Mutation_p.G13V|HRAS_ENST00000397594.1_Missense_Mutation_p.G13V|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000311189.7_Missense_Mutation_p.G13V|HRAS_ENST00000397596.2_Missense_Mutation_p.G13V NM_176795.3 NP_789765.1 P01112 RASH_HUMAN Harvey rat sarcoma viral oncogene homolog 13 G -> C (in FCSS).|G -> D (in FCSS). activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission cytosol|Golgi membrane|plasma membrane GTP binding|GTPase activity|protein C-terminus binding p.G13V(14)|p.G13D(10)|p.G12_G13insAG(1) adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225) 901 all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) Sulindac(DB00605) CTTGCCCACACCGCCGGCGCC 0.642000 6 Mis """infrequent sarcomas, rare other types""" """rhadomyosarcoma, ganglioneuroblastoma, bladder""" Costello syndrome HNSCC(11;0.0054) 26 53 2.41591e-17 2.58645e-17 1 1 0 ADD2 119 broad.mit.edu 37 2 70917937 70917937 + Missense_Mutation SNP C C T TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr2:70917937C>T ENST00000264436.3 - 8 1274 c.830G>A c.(829-831)tGc>tAc p.C277Y ADD2_ENST00000413157.2_Missense_Mutation_p.C277Y|ADD2_ENST00000407644.2_Missense_Mutation_p.C277Y|ADD2_ENST00000430656.1_Missense_Mutation_p.C293Y|ADD2_ENST00000355733.3_Missense_Mutation_p.C277Y|AC007395.3_ENST00000457851.1_RNA NM_001617.3 NP_001608.1 P35612 ADDB_HUMAN adducin 2 (beta) 277 actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding cytoplasm|F-actin capping protein complex|plasma membrane actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2) 36 GGGTCCAAGGCACTTCTGCAG 0.498000 4 73 0 0 1 0 0 CALB2 794 broad.mit.edu 37 16 71417890 71417890 + Missense_Mutation SNP G G C TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr16:71417890G>C ENST00000302628.4 + 7 572 c.495G>C c.(493-495)ttG>ttC p.L165F CALB2_ENST00000349553.5_Missense_Mutation_p.L165F NM_001740.4 NP_001731.2 P22676 CALB2_HUMAN calbindin 2 165 EF-hand 4. calcium ion binding p.L165L(1) NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 18 Ovarian(137;0.125) TGTTTGACTTGAACGGGGATG 0.532000 32 116 0 0 1 0 0 RSRC2 65117 broad.mit.edu 37 12 122990163 122990163 + Missense_Mutation SNP G G C TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr12:122990163G>C ENST00000331738.7 - 10 1361 c.1216C>G c.(1216-1218)Cag>Gag p.Q406E RSRC2_ENST00000392442.2_5'UTR|RSRC2_ENST00000354654.2_Missense_Mutation_p.Q358E NM_023012.5 NP_075388.2 Q7L4I2 RSRC2_HUMAN arginine/serine-rich coiled-coil 2 406 p.Q406*(2) breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|urinary_tract(2) 24 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201) ATTTCATACTGAGCATCTAAA 0.393000 36 100 0 0 1 0 0 ENPP7 339221 broad.mit.edu 37 17 77709258 77709258 + Silent SNP C C T TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr17:77709258C>T ENST00000328313.5 + 3 1037 c.816C>T c.(814-816)gaC>gaT p.D272D NM_178543.3 NP_848638.2 Q6UWV6 ENPP7_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 7 272 negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process Golgi apparatus|integral to membrane|microvillus sphingomyelin phosphodiesterase activity breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3) 34 OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224) CCTTCCGGGACATCGAGTTTG 0.572000 32 95 0 0 1 0 0 HENMT1 113802 broad.mit.edu 37 1 109191450 109191450 + Nonsense_Mutation SNP G G C TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr1:109191450G>C ENST00000370032.5 - 8 1340 c.920C>G c.(919-921)tCa>tGa p.S307* HENMT1_ENST00000370031.1_Nonsense_Mutation_p.S338*|HENMT1_ENST00000402983.1_Nonsense_Mutation_p.S307* NM_144584.2 NP_653185.2 Q5T8I9 HENMT_HUMAN HEN1 methyltransferase homolog 1 (Arabidopsis) 307 gene silencing by RNA|piRNA metabolic process P granule metal ion binding|O-methyltransferase activity|RNA binding|RNA methyltransferase activity p.G306_P310delGSKAP(1) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1) 16 AGGGGCCTTTGAGCCACCAAT 0.517000 21 73 0 0 1 0 0 SPHKAP 80309 broad.mit.edu 37 2 228882732 228882732 + Silent SNP C C T TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr2:228882732C>T ENST00000392056.3 - 7 2884 c.2838G>A c.(2836-2838)gcG>gcA p.A946A SPHKAP_ENST00000344657.5_Silent_p.A946A NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 946 PKA-RII subunit binding domain (By similarity). cytoplasm protein binding NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) CAAGGCAAATCGCTGCAATTT 0.473000 4 164 0 0 1 0 0 ADAMTS4 9507 broad.mit.edu 37 1 161163759 161163759 + Missense_Mutation SNP C C T TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr1:161163759C>T ENST00000367996.4 - 5 1942 c.1514G>A c.(1513-1515)cGc>cAc p.R505H NM_005099.4 NP_005090.3 O75173 ATS4_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 4 505 Disintegrin. proteolysis|skeletal system development extracellular space|proteinaceous extracellular matrix metalloendopeptidase activity|protease binding|zinc ion binding central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1) 43 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) GTGGAGGCAGCGACCACCCAT 0.652000 10 57 0 0 1 0 0 ASB10 136371 broad.mit.edu 37 7 150878259 150878259 + Missense_Mutation SNP C C T TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr7:150878259C>T ENST00000422024.1 - 3 1131 c.1006G>A c.(1006-1008)Gac>Aac p.D336N ASB10_ENST00000275838.1_Missense_Mutation_p.D291N|ASB10_ENST00000434669.1_Missense_Mutation_p.D336N|ASB10_ENST00000377867.3_Missense_Mutation_p.D276N|ASB10_ENST00000420175.2_Missense_Mutation_p.D291N NM_001142459.1 NP_001135931.2 Q8WXI3 ASB10_HUMAN ankyrin repeat and SOCS box containing 10 291 intracellular signal transduction NS(1)|endometrium(2)|lung(7)|skin(2) 12 OV - Ovarian serous cystadenocarcinoma(82;0.00448) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TTGTCCTGGTCCGCAGCATCA 0.667000 8 39 0 0 1 0 0 ARCN1 372 broad.mit.edu 37 11 118461072 118461072 + Missense_Mutation SNP G G A TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr11:118461072G>A ENST00000359415.4 + 7 1123 c.958G>A c.(958-960)Gaa>Aaa p.E320K ARCN1_ENST00000534182.2_Intron|ARCN1_ENST00000392859.3_Missense_Mutation_p.E191K|ARCN1_ENST00000264028.4_Missense_Mutation_p.E279K P48444 COPD_HUMAN archain 1 279 MHD. COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER clathrin adaptor complex|COPI vesicle coat|cytosol endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|urinary_tract(1) 13 all_hematologic(175;0.0349) Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.28e-05) TATGAAGATTGAAGAAAAGAT 0.428000 17 58 0 0 1 0 0 ZNF692 55657 broad.mit.edu 37 1 249152243 249152243 + Silent SNP G G A TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr1:249152243G>A ENST00000391820.3 - 3 367 c.201C>T c.(199-201)ttC>ttT p.F67F ZNF692_ENST00000427146.1_Intron|ZNF692_ENST00000366469.5_Intron|ZNF692_ENST00000451251.1_Intron|ZNF692_ENST00000306601.4_Intron|ZNF692_ENST00000366471.3_Intron Q9BU19 ZN692_HUMAN zinc finger protein 692 60 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|large_intestine(6)|lung(7)|stomach(1) 17 all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199) all_cancers(173;0.19) OV - Ovarian serous cystadenocarcinoma(106;0.00805) CCTGAGGGTGGAAAAGAGCAG 0.627000 4 9 0 0 1 0 0 GCN1L1 10985 broad.mit.edu 37 12 120611884 120611884 + Nonsense_Mutation SNP G G A TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr12:120611884G>A ENST00000300648.6 - 13 1195 c.1183C>T c.(1183-1185)Cag>Tag p.Q395* NM_006836.1 NP_006827.1 Q92616 GCN1L_HUMAN GCN1 general control of amino-acid synthesis 1-like 1 (yeast) 395 regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 94 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CCTTCCTGCTGAAGGAACGGG 0.512000 5 25 0 0 1 0 0 TGIF1 7050 broad.mit.edu 37 18 3452158 3452158 + Missense_Mutation SNP C C A TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr18:3452158C>A ENST00000330513.5 + 1 484 c.181C>A c.(181-183)Ccc>Acc p.P61T TGIF1_ENST00000401449.1_Intron|TGIF1_ENST00000343820.5_Intron|TGIF1_ENST00000405385.3_Intron|TGIF1_ENST00000407501.2_Intron|TGIF1_ENST00000548489.2_Intron|TGIF1_ENST00000551541.1_Intron|TGIF1_ENST00000551402.1_Intron|TGIF1_ENST00000577543.1_Intron|TGIF1_ENST00000345133.5_Intron NM_170695.2 NP_733796.2 Q15583 TGIF1_HUMAN TGFB-induced factor homeobox 1 61 negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity cervix(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 13 Esophageal squamous(4;0.0859) Colorectal(8;0.0104) GGCCTACCTTCCCCCAGCGCC 0.721000 21 63 2.89027e-11 3.02315e-11 1 1 0 TMC6 11322 broad.mit.edu 37 17 76115082 76115082 + Missense_Mutation SNP G G C TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr17:76115082G>C ENST00000590602.1 - 15 2016 c.1857C>G c.(1855-1857)atC>atG p.I619M TMC6_ENST00000322914.3_Missense_Mutation_p.I619M|TMC6_ENST00000392467.3_Missense_Mutation_p.I619M|TMC6_ENST00000322933.4_Missense_Mutation_p.I198M|TMC6_ENST00000592076.1_Intron|TMC6_ENST00000306591.7_Intron|TMC6_ENST00000591436.1_Missense_Mutation_p.I198M Q7Z403 TMC6_HUMAN transmembrane channel-like 6 619 endoplasmic reticulum membrane|integral to membrane NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1) 14 BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973) GCAGCAGCTTGATGATCTGCA 0.682000 3 16 0 0 1 0 0 GPR149 344758 broad.mit.edu 37 3 154147314 154147314 + Missense_Mutation SNP T T C TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr3:154147314T>C ENST00000389740.2 - 1 190 c.91A>G c.(91-93)Acc>Gcc p.T31A NM_001038705.1 NP_001033794.1 Q86SP6 GP149_HUMAN G protein-coupled receptor 149 31 integral to membrane|plasma membrane G-protein coupled receptor activity autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2) 47 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) ATATTCAGGGTTCCTGGCGGA 0.393000 25 101 0 0 1 0 0 CLEC17A 388512 broad.mit.edu 37 19 14705357 14705357 + Silent SNP G G A TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr19:14705357G>A ENST00000547437.1 + 5 383 c.306G>A c.(304-306)agG>agA p.R102R CLEC17A_ENST00000417570.1_Silent_p.R102R|CLEC17A_ENST00000397439.2_Silent_p.R85R NM_207390.3 NP_997273.3 Q6ZS10 CL17A_HUMAN C-type lectin domain family 17, member A 102 cell surface|integral to membrane fucose binding|mannose binding|metal ion binding|receptor activity GACCTCCAAGGGCAGGTGAGT 0.587000 6 14 0 0 1 0 0 SDK1 221935 broad.mit.edu 37 7 4026875 4026875 + Silent SNP C C T TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr7:4026875C>T ENST00000404826.2 + 14 2191 c.2052C>T c.(2050-2052)caC>caT p.H684H SDK1_ENST00000389531.3_Silent_p.H684H NM_152744.3 NP_689957.3 Q7Z5N4 SDK1_HUMAN sidekick cell adhesion molecule 1 684 Fibronectin type-III 1. cell adhesion integral to membrane NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4) 153 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) CCCACAGCCACGCCGTGGTGC 0.458000 49 143 0 0 1 0 0 CTSO 1519 broad.mit.edu 37 4 156850844 156850844 + Nonsense_Mutation SNP C C A TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr4:156850844C>A ENST00000433477.3 - 6 757 c.688G>T c.(688-690)Gaa>Taa p.E230* NM_001334.2 NP_001325.1 P43234 CATO_HUMAN cathepsin O 230 proteolysis lysosome cysteine-type endopeptidase activity breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|prostate(1) 16 all_hematologic(180;0.24) Renal(120;0.0458) KIRC - Kidney renal clear cell carcinoma(143;0.05)|Kidney(143;0.0627)|COAD - Colon adenocarcinoma(41;0.148) TTTGCCATTTCATCTTCTTGG 0.363000 24 69 3.08376e-08 3.16491e-08 1 1 0 KIF21B 23046 broad.mit.edu 37 1 200965341 200965341 + Missense_Mutation SNP C C T TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr1:200965341C>T ENST00000332129.2 - 15 2576 c.2260G>A c.(2260-2262)Gag>Aag p.E754K KIF21B_ENST00000360529.5_Missense_Mutation_p.E754K|KIF21B_ENST00000422435.2_Missense_Mutation_p.E754K|KIF21B_ENST00000461742.2_Missense_Mutation_p.E754K NM_001252102.1|NM_001252103.1|NM_017596.3 NP_001239031.1|NP_001239032.1|NP_060066.2 O75037 KI21B_HUMAN kinesin family member 21B 754 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2) 83 TTCTTCATCTCAGCCACCTCG 0.572000 51 193 0 0 1 0 0 CHIT1 1118 broad.mit.edu 37 1 203188883 203188883 + Missense_Mutation SNP G G C TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr1:203188883G>C ENST00000367229.1 - 8 858 c.824C>G c.(823-825)tCc>tGc p.S275C CHIT1_ENST00000484834.1_5'UTR|CHIT1_ENST00000255427.3_Missense_Mutation_p.S256C|CHIT1_ENST00000535569.1_Missense_Mutation_p.S266C NM_001270509.1|NM_003465.2 NP_001257438.1|NP_003456.1 Q13231 CHIT1_HUMAN chitinase 1 (chitotriosidase) 275 chitin catabolic process|immune response|response to bacterium extracellular space|lysosome cation binding|chitin binding|endochitinase activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2) 27 GTCTGATGAGGAGGCCAGTGT 0.602000 21 79 0 0 1 0 0 CIC 23152 broad.mit.edu 37 19 42794083 42794083 + Missense_Mutation SNP G G A TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr19:42794083G>A ENST00000572681.2 + 10 4239 c.4171G>A c.(4171-4173)Gag>Aag p.E1391K CIC_ENST00000575354.2_Missense_Mutation_p.E482K|CIC_ENST00000160740.3_Missense_Mutation_p.E482K Q96RK0 CIC_HUMAN capicua transcriptional repressor 482 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 82 Prostate(69;0.00682) CAGCTCTGGGGAGGACCCAGA 0.602000 """Mis, F, S""" oligodendroglioma 4 13 0 0 1 0 0 MAP9 79884 broad.mit.edu 37 4 156277025 156277025 + Missense_Mutation SNP G G C TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr4:156277025G>C ENST00000311277.4 - 9 1396 c.1133C>G c.(1132-1134)tCt>tGt p.S378C AC097467.2_ENST00000601977.1_RNA|AC097467.2_ENST00000598252.1_RNA|AC097467.2_ENST00000593387.1_RNA|AC097467.2_ENST00000417474.1_RNA|MAP9_ENST00000515654.1_Missense_Mutation_p.S354C NM_001039580.1 NP_001034669.1 Q49MG5 MAP9_HUMAN microtubule-associated protein 9 378 cell division|mitosis cytoplasm|microtubule|spindle NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 26 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.143) CAAAAACTCAGAGGTCATTAA 0.328000 11 37 0 0 1 0 0 GMFB 2764 broad.mit.edu 37 14 54950444 54950444 + Silent SNP C C T TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr14:54950444C>T ENST00000554908.1 - 2 142 c.45G>A c.(43-45)gtG>gtA p.V15V GMFB_ENST00000358056.3_Silent_p.V15V|GMFB_ENST00000553566.1_5'UTR P60983 GMFB_HUMAN glia maturation factor, beta 15 ADF-H. nervous system development|protein phosphorylation intracellular actin binding|enzyme activator activity|growth factor activity|protein kinase inhibitor activity|signal transducer activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1) 8 TCAGCTTTTCCACTAAATCTT 0.328000 17 105 0 0 1 0 0 NUDT22 84304 broad.mit.edu 37 11 63994194 63994194 + Missense_Mutation SNP G G A TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr11:63994194G>A ENST00000279206.3 + 2 226 c.70G>A c.(70-72)Gag>Aag p.E24K NUDT22_ENST00000441250.2_Missense_Mutation_p.E24K NM_001128612.2|NM_032344.2 NP_001122084.1|NP_115720.1 Q9BRQ3 NUD22_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 22 24 hydrolase activity breast(1)|endometrium(1)|large_intestine(2)|lung(4) 8 GATACAGGCCGAGCTGAGCCC 0.667000 17 60 0 0 1 0 0 ZNF416 55659 broad.mit.edu 37 19 58083539 58083539 + Missense_Mutation SNP C C T TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr19:58083539C>T ENST00000196489.3 - 4 1955 c.1733G>A c.(1732-1734)cGt>cAt p.R578H NM_017879.1 NP_060349.1 Q9BWM5 ZN416_HUMAN zinc finger protein 416 578 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1) 22 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259) GCTGCTGTCACGAGGCCTCTC 0.468000 6 270 0 0 1 0 0 PRICKLE1 144165 broad.mit.edu 37 12 42858745 42858745 + Missense_Mutation SNP G G A TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr12:42858745G>A ENST00000455697.1 - 7 1376 c.1091C>T c.(1090-1092)tCa>tTa p.S364L PRICKLE1_ENST00000445766.2_Missense_Mutation_p.S364L|PRICKLE1_ENST00000548696.1_Missense_Mutation_p.S364L|RP11-328C8.4_ENST00000547824.1_RNA|PRICKLE1_ENST00000552240.1_Missense_Mutation_p.S364L|PRICKLE1_ENST00000345127.3_Missense_Mutation_p.S364L NM_001144882.1|NM_001144883.1 NP_001138354.1|NP_001138355.1 Q96MT3 PRIC1_HUMAN prickle homolog 1 (Drosophila) 364 negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus cytosol|nuclear membrane zinc ion binding NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 47 all_cancers(12;4.25e-05)|Breast(8;0.176) GBM - Glioblastoma multiforme(48;0.2) AGCATTGCCTGAGAGGCCAGG 0.483000 28 79 0 0 1 0 0 SPTBN2 6712 broad.mit.edu 37 11 66458979 66458979 + Missense_Mutation SNP C C T TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr11:66458979C>T ENST00000533211.1 - 27 5672 c.5341G>A c.(5341-5343)Gag>Aag p.E1781K SPTBN2_ENST00000309996.2_Missense_Mutation_p.E1781K|SPTBN2_ENST00000529997.1_Missense_Mutation_p.E1781K O15020 SPTN2_HUMAN spectrin, beta, non-erythrocytic 2 1781 actin filament capping|axon guidance|cell death|vesicle-mediated transport cytosol|spectrin actin binding|structural constituent of cytoskeleton p.E1781K(1) autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 74 GCCCAGGCCTCGTTGAGACTG 0.672000 14 38 0 0 1 0 0 HOOK1 51361 broad.mit.edu 37 1 60314090 60314090 + Nonsense_Mutation SNP G G T TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr1:60314090G>T ENST00000371208.3 + 11 1290 c.1033G>T c.(1033-1035)Gaa>Taa p.E345* HOOK1_ENST00000395561.2_Nonsense_Mutation_p.E303*|HOOK1_ENST00000465876.1_3'UTR NM_015888.4 NP_056972.1 Q9UJC3 HOOK1_HUMAN hook microtubule-tethering protein 1 345 Sufficient for interaction with microtubules. early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport FHF complex|microtubule identical protein binding biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1) 29 all_cancers(7;0.000129) AACTTTACAGGAAACCAACAT 0.363000 32 90 1.62565e-12 1.71352e-12 1 1 0 PLCB4 5332 broad.mit.edu 37 20 9400478 9400478 + Missense_Mutation SNP G G A TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr20:9400478G>A ENST00000378501.2 + 22 2055 c.2040G>A c.(2038-2040)atG>atA p.M680I PLCB4_ENST00000278655.4_Missense_Mutation_p.M680I|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378473.3_Missense_Mutation_p.M692I|PLCB4_ENST00000414679.2_Missense_Mutation_p.M692I|PLCB4_ENST00000378493.1_Missense_Mutation_p.M680I|PLCB4_ENST00000334005.3_Missense_Mutation_p.M680I NM_000933.3 NP_000924.3 Q15147 PLCB4_HUMAN phospholipase C, beta 4 680 PI-PLC Y-box. intracellular signal transduction|lipid catabolic process cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity p.M680I(1) NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1) 87 CAGATTTCATGAGGCGGCCTG 0.438000 36 126 0 0 1 0 0 RNF14 9604 broad.mit.edu 37 5 141357914 141357914 + Missense_Mutation SNP G G A TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr5:141357914G>A ENST00000394520.2 + 5 662 c.353G>A c.(352-354)cGt>cAt p.R118H RNF14_ENST00000356143.1_Missense_Mutation_p.R118H|RNF14_ENST00000394514.2_5'UTR|RNF14_ENST00000394519.1_Missense_Mutation_p.R118H|RNF14_ENST00000502341.1_3'UTR|RNF14_ENST00000540015.1_Intron|RNF14_ENST00000347642.3_Missense_Mutation_p.R118H|AC005740.5_ENST00000520882.1_RNA|RNF14_ENST00000394515.3_Intron NM_001201365.1|NM_004290.4 NP_001188294.1|NP_004281.1 Q9UBS8 RNF14_HUMAN ring finger protein 14 118 RWD. androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|protein ubiquitination|regulation of androgen receptor signaling pathway|regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus|transcription, DNA-dependent cytoplasm|nucleus androgen receptor binding|small conjugating protein ligase activity|transcription coactivator activity|zinc ion binding cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 15 all_hematologic(541;0.0536)|Ovarian(839;0.118) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;0.0407) GAAGAACACCGTGGCAGCGTG 0.453000 25 81 0 0 1 0 0 TRNT1 51095 broad.mit.edu 37 3 3170787 3170787 + Silent SNP C C T TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr3:3170787C>T ENST00000251607.6 + 2 165 c.63C>T c.(61-63)tgC>tgT p.C21C TRNT1_ENST00000402675.1_Silent_p.C21C|TRNT1_ENST00000339437.6_Silent_p.C21C|TRNT1_ENST00000280591.6_Silent_p.C21C|TRNT1_ENST00000469632.1_3'UTR|TRNT1_ENST00000420393.1_Silent_p.C21C NM_182916.2 NP_886552.2 Q96Q11 TRNT1_HUMAN tRNA nucleotidyl transferase, CCA-adding, 1 21 protein targeting to mitochondrion|tRNA 3'-end processing mitochondrion ATP binding|tRNA adenylyltransferase activity|tRNA binding breast(2)|endometrium(3)|large_intestine(4)|lung(2)|urinary_tract(1) 12 Epithelial(13;0.00226)|OV - Ovarian serous cystadenocarcinoma(96;0.00592)|all cancers(10;0.011) GTAGGCTGTGCCTTCCGAAGC 0.493000 4 115 0 0 1 0 0 RASSF5 83593 broad.mit.edu 37 1 206681310 206681310 + Silent SNP C C T TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr1:206681310C>T ENST00000338603.2 + 1 432 c.375C>T c.(373-375)ttC>ttT p.F125F RASSF5_ENST00000355294.4_Silent_p.F125F|RASSF5_ENST00000367117.3_Silent_p.F125F NM_182663.2 NP_872604.1 Q8WWW0 RASF5_HUMAN Ras association (RalGDS/AF-6) domain family member 5 125 apoptosis|intracellular signal transduction cytoplasm|microtubule metal ion binding|protein binding endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1) 8 Breast(84;0.183) BRCA - Breast invasive adenocarcinoma(75;0.166) GGCACTGCTTCGCCGAGTTGG 0.726000 4 7 0 0 1 0 0 C1orf52 148423 broad.mit.edu 37 1 85724231 85724231 + Missense_Mutation SNP C C T TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr1:85724231C>T ENST00000471115.1 - 2 459 c.451G>A c.(451-453)Gaa>Aaa p.E151K C1orf52_ENST00000294661.4_5'UTR|C1orf52_ENST00000344356.5_Missense_Mutation_p.E151K NM_198077.3 NP_932343.1 Q8N6N3 CA052_HUMAN chromosome 1 open reading frame 52 151 endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1) 10 all cancers(265;0.0105)|Epithelial(280;0.0293) TCCTCCCCTTCTGGTAGAAGC 0.433000 51 169 0 0 1 0 0 PSMD6 9861 broad.mit.edu 37 3 64005073 64005073 + Silent SNP C C T TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr3:64005073C>T ENST00000492933.1 - 4 607 c.555G>A c.(553-555)gtG>gtA p.V185V PSMD6_ENST00000295901.4_Silent_p.V132V|PSMD6_ENST00000394431.2_Silent_p.V94V|PSMD6_ENST00000482510.1_Silent_p.V93V NM_001271779.1 NP_001258708.1 Q15008 PSMD6_HUMAN proteasome (prosome, macropain) 26S subunit, non-ATPase, 6 132 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction proteasome complex ATPase activity|protein binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(1) 13 Lung NSC(201;0.136) BRCA - Breast invasive adenocarcinoma(55;0.000805)|Kidney(15;0.00188)|KIRC - Kidney renal clear cell carcinoma(15;0.00212) GACCCAGGGCCACAGTTTTGT 0.418000 7 78 0 0 1 0 0 ZNF44 51710 broad.mit.edu 37 19 12385822 12385822 + Missense_Mutation SNP C C G TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr19:12385822C>G ENST00000356109.5 - 4 419 c.301G>C c.(301-303)Gat>Cat p.D101H ZNF44_ENST00000355684.5_Missense_Mutation_p.D53H NM_001164276.1 NP_001157748.1 P15621 ZNF44_HUMAN zinc finger protein 44 101 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton|nucleus DNA binding|protein binding|zinc ion binding ovary(1) 1 Renal(1328;0.157) GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179) TGCTGATCATCAATGTTCTGG 0.313000 5 33 0 0 1 0 0 CCDC142 84865 broad.mit.edu 37 2 74709080 74709080 + Silent SNP G G A TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr2:74709080G>A ENST00000393965.3 - 1 1281 c.885C>T c.(883-885)ctC>ctT p.L295L CCDC142_ENST00000471713.1_5'UTR|CCDC142_ENST00000290418.4_Silent_p.L295L NM_032779.3 NP_116168.3 Q17RM4 CC142_HUMAN coiled-coil domain containing 142 295 central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2) 16 CAGCCCCTCCGAGCCCTAGTC 0.677000 21 43 0 0 1 0 0 PRPF3 9129 broad.mit.edu 37 1 150307683 150307683 + Missense_Mutation SNP G G C TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr1:150307683G>C ENST00000324862.6 + 7 1171 c.1006G>C c.(1006-1008)Gag>Cag p.E336Q PRPF3_ENST00000543398.1_Missense_Mutation_p.E201Q|PRPF3_ENST00000414970.2_Missense_Mutation_p.E287Q|PRPF3_ENST00000467329.1_3'UTR NM_004698.2 NP_004689.1 O43395 PRPF3_HUMAN pre-mRNA processing factor 3 336 nuclear mRNA splicing, via spliceosome Cajal body|cytoplasm|nuclear speck|spliceosomal complex protein binding breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) Colorectal(1306;0.0149) GGGCAAATTTGAGAAGATTGC 0.413000 14 75 0 0 1 0 0 DAK 26007 broad.mit.edu 37 11 61113381 61113381 + Missense_Mutation SNP G G A TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr11:61113381G>A ENST00000394900.3 + 17 1767 c.1538G>A c.(1537-1539)gGa>gAa p.G513E NM_015533.3 NP_056348.2 Q3LXA3 DHAK_HUMAN dihydroxyacetone kinase 2 homolog (S. cerevisiae) 513 DhaL. glycerol metabolic process cytosol ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1) 23 AAGAGCCCAGGAGCTGATCTG 0.617000 17 60 0 0 1 0 0 AQP6 363 broad.mit.edu 37 12 50367073 50367073 + Missense_Mutation SNP C C G TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr12:50367073C>G ENST00000315520.5 + 1 454 c.117C>G c.(115-117)ttC>ttG p.F39L AQP6_ENST00000551733.1_Intron NM_001652.3 NP_001643.2 Q13520 AQP6_HUMAN aquaporin 6, kidney specific 39 excretion|odontogenesis integral to plasma membrane|transport vesicle membrane anion channel activity|water channel activity p.F39L(1) endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(2) 13 TGTATGTGTTCTTTGGCGTGG 0.612000 39 119 0 0 1 0 0 TBP 6908 broad.mit.edu 37 6 170873697 170873697 + Nonsense_Mutation SNP C C T TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr6:170873697C>T ENST00000392092.2 + 4 841 c.562C>T c.(562-564)Cga>Tga p.R188* TBP_ENST00000230354.6_Nonsense_Mutation_p.R188*|TBP_ENST00000540980.1_Nonsense_Mutation_p.R168* NM_003194.4 NP_003185.1 P20226 TBP_HUMAN TATA box binding protein 188 cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction transcription factor TFIIA complex|transcription factor TFIID complex repressing transcription factor binding|transcription regulatory region DNA binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1) 26 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591) ACTTCGTGCCCGAAACGCCGA 0.318000 4 83 0 0 1 0 0 DFNB31 25861 broad.mit.edu 37 9 117240818 117240818 + Silent SNP C C A TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr9:117240818C>A ENST00000374057.3 - 2 1500 c.852G>T c.(850-852)ggG>ggT p.G284G DFNB31_ENST00000362057.3_Intron|DFNB31_ENST00000265134.6_Intron Q9P202 WHRN_HUMAN deafness, autosomal recessive 31 284 PDZ 2. inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound cytoplasm|growth cone|stereocilium central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 GGCCTCCTTTCCCCACCCCAC 0.632000 12 51 6.81908e-15 7.21554e-15 1 1 0 KRT76 51350 broad.mit.edu 37 12 53170978 53170978 + Missense_Mutation SNP A A T TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr12:53170978A>T ENST00000332411.2 - 1 151 c.98T>A c.(97-99)gTg>gAg p.V33E NM_015848.4 NP_056932.2 Q01546 K22O_HUMAN keratin 76 33 Head. cytoskeleton organization keratin filament structural molecule activity breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 AGAGCGGGCCACACAGCTCAT 0.607000 5 113 0 0 1 0 0 MAGEB18 286514 broad.mit.edu 37 X 26157729 26157729 + Silent SNP G G A TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chrX:26157729G>A ENST00000325250.1 + 2 814 c.627G>A c.(625-627)ctG>ctA p.L209L NM_173699.3 NP_775970.1 Q96M61 MAGBI_HUMAN melanoma antigen family B, 18 209 MAGE. protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2) 33 TGATCTTTCTGAATGGCAACC 0.458000 12 41 0 0 1 0 0 ADAD1 132612 broad.mit.edu 37 4 123336558 123336558 + Missense_Mutation SNP G G C TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr4:123336558G>C ENST00000296513.2 + 11 1459 c.1274G>C c.(1273-1275)aGa>aCa p.R425T ADAD1_ENST00000388724.2_Missense_Mutation_p.R414T|ADAD1_ENST00000388725.2_Missense_Mutation_p.R407T NM_139243.3 NP_640336.1 Q96M93 ADAD1_HUMAN adenosine deaminase domain containing 1 (testis-specific) 425 A to I editase. multicellular organismal development|RNA processing nucleus adenosine deaminase activity|double-stranded RNA binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 35 AGTGATACCAGAGGCTTAGAA 0.338000 23 92 0 0 1 0 0 ITPR2 3709 broad.mit.edu 37 12 26753036 26753036 + Missense_Mutation SNP C C T TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr12:26753036C>T ENST00000381340.3 - 29 4101 c.3685G>A c.(3685-3687)Gaa>Aaa p.E1229K NM_002223.2 NP_002214.2 Q14571 ITPR2_HUMAN inositol 1,4,5-trisphosphate receptor, type 2 1229 activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity ETV6/ITPR2(2) biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 125 Colorectal(261;0.0847) TTCATCTTTTCATCATTCTGT 0.338000 9 48 0 0 1 0 0 RRBP1 6238 broad.mit.edu 37 20 17614170 17614170 + Missense_Mutation SNP C C T TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr20:17614170C>T ENST00000377813.1 - 8 2848 c.2545G>A c.(2545-2547)Gag>Aag p.E849K RRBP1_ENST00000360807.4_Missense_Mutation_p.E416K|RRBP1_ENST00000246043.4_Missense_Mutation_p.E849K|RRBP1_ENST00000377807.2_Missense_Mutation_p.E416K|RRBP1_ENST00000455029.2_Missense_Mutation_p.E190K Q9P2E9 RRBP1_HUMAN ribosome binding protein 1 849 protein transport|translation|transmembrane transport integral to endoplasmic reticulum membrane|ribosome receptor activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6) 28 CGCTGCTGCTCATCTTGCCGC 0.612000 14 49 0 0 1 0 0 TRPC5 7224 broad.mit.edu 37 X 111022220 111022220 + Missense_Mutation SNP T T G TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chrX:111022220T>G ENST00000262839.2 - 10 3143 c.2225A>C c.(2224-2226)aAt>aCt p.N742T NM_012471.2 NP_036603.1 Q9UL62 TRPC5_HUMAN transient receptor potential cation channel, subfamily C, member 5 742 axon guidance calcium channel complex|integral to plasma membrane protein binding|store-operated calcium channel activity biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 TACCTTAAAATTTTCTTCTGT 0.318000 14 66 0 0 1 0 0 TSSK2 23617 broad.mit.edu 37 22 19119533 19119533 + Silent SNP C C T TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr22:19119533C>T ENST00000399635.2 + 1 1213 c.621C>T c.(619-621)taC>taT p.Y207Y DGCR14_ENST00000252137.6_3'UTR NM_053006.4 NP_443732.3 Q96PF2 TSSK2_HUMAN testis-specific serine kinase 2 207 Protein kinase. cell differentiation|multicellular organismal development|spermatogenesis cytoplasm ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1) 11 Colorectal(54;0.0993) TGATCCTGTACATCATGGTCT 0.602000 34 122 0 0 1 0 0 ACP2 53 broad.mit.edu 37 11 47270244 47270244 + Silent SNP G G A TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr11:47270244G>A ENST00000256997.3 - 1 213 c.97C>T c.(97-99)Ctg>Ttg p.L33L ACP2_ENST00000527256.1_Silent_p.L33L|ACP2_ENST00000444355.2_Silent_p.L33L|ACP2_ENST00000537863.1_5'UTR|ACP2_ENST00000529444.1_Silent_p.L33L|ACP2_ENST00000529788.1_Silent_p.L33L|NR1H3_ENST00000529540.1_3'UTR|ACP2_ENST00000530453.1_Silent_p.L33L NM_001610.2 NP_001601.1 P11117 PPAL_HUMAN acid phosphatase 2, lysosomal 33 integral to membrane|lysosomal lumen|lysosomal membrane acid phosphatase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1) 10 ACGAAGCGCAGACTCCGGGCC 0.637000 4 10 0 0 1 0 0 NFASC 23114 broad.mit.edu 37 1 204948662 204948662 + Silent SNP C C T TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr1:204948662C>T ENST00000367172.4 + 19 2479 c.2151C>T c.(2149-2151)tcC>tcT p.S717S NFASC_ENST00000339876.6_Silent_p.S717S|NFASC_ENST00000360049.4_Silent_p.S713S|NFASC_ENST00000404907.1_Silent_p.S713S|NFASC_ENST00000513543.1_Silent_p.S713S|NFASC_ENST00000404076.1_Silent_p.S696S|NFASC_ENST00000367171.4_Silent_p.S702S|NFASC_ENST00000338515.6_Silent_p.S717S|NFASC_ENST00000401399.1_Silent_p.S717S|NFASC_ENST00000539706.1_Silent_p.S713S|NFASC_ENST00000338586.6_Silent_p.S717S|NFASC_ENST00000367169.4_Silent_p.S717S|NFASC_ENST00000367170.4_Silent_p.S717S O94856 NFASC_HUMAN neurofascin 717 Fibronectin type-III 1. axon guidance|cell adhesion|myelination|peripheral nervous system development integral to membrane|node of Ranvier|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 81 all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) GCCTCCCATCCGAGCGCTACC 0.622000 38 145 0 0 1 0 0 KCNAB3 9196 broad.mit.edu 37 17 7826832 7826832 + Missense_Mutation SNP G G C TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr17:7826832G>C ENST00000303790.2 - 13 1078 c.1079C>G c.(1078-1080)tCt>tGt p.S360C NM_004732.3 NP_004723.2 O43448 KCAB3_HUMAN potassium voltage-gated channel, shaker-related subfamily, beta member 3 360 cytoplasm|integral to membrane oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1) 8 Prostate(122;0.157) CAGCAAGACAGAGCTGACACC 0.582000 5 13 0 0 1 0 0 REPS1 85021 broad.mit.edu 37 6 139241392 139241392 + Missense_Mutation SNP C C G TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr6:139241392C>G ENST00000450536.2 - 12 2062 c.1488G>C c.(1486-1488)aaG>aaC p.K496N REPS1_ENST00000409812.2_Missense_Mutation_p.K469N|REPS1_ENST00000258062.5_Missense_Mutation_p.K496N|REPS1_ENST00000367663.4_Missense_Mutation_p.K469N|REPS1_ENST00000415951.2_Missense_Mutation_p.K469N Q96D71 REPS1_HUMAN RALBP1 associated Eps domain containing 1 496 coated pit|plasma membrane calcium ion binding|SH3 domain binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2) 19 GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548) ATGAATTTATCTTATTTTCTT 0.328000 26 100 0 0 1 0 0 IGFBPL1 347252 broad.mit.edu 37 9 38413282 38413282 + Silent SNP G G C TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr9:38413282G>C ENST00000377694.1 - 3 661 c.639C>G c.(637-639)gtC>gtG p.V213V NM_001007563.1 NP_001007564.1 Q8WX77 IBPL1_HUMAN insulin-like growth factor binding protein-like 1 213 Ig-like C2-type. regulation of cell growth extracellular region insulin-like growth factor binding endometrium(1)|lung(2)|upper_aerodigestive_tract(1) 4 GBM - Glioblastoma multiforme(29;0.0437)|Lung(182;0.116) CTCGCACTTGGACAGCTATAT 0.537000 16 71 0 0 1 0 0 ANKRD30B 374860 broad.mit.edu 37 18 14763808 14763808 + Missense_Mutation SNP C C T TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr18:14763808C>T ENST00000358984.4 + 7 1124 c.944C>T c.(943-945)gCc>gTc p.A315V ANKRD30B_ENST00000579292.1_Intron|ANKRD30B_ENST00000447268.2_Missense_Mutation_p.A315V NM_001145029.1 NP_001138501.1 Q9BXX2 AN30B_HUMAN ankyrin repeat domain 30B 315 breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1) 22 GGAACGTCTGCCAAAATTCAA 0.478000 5 23 0 0 1 0 0 OXA1L 5018 broad.mit.edu 37 14 23240675 23240675 + Missense_Mutation SNP C C T TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr14:23240675C>T ENST00000358043.5 + 10 1486 c.1168C>T c.(1168-1170)Ctc>Ttc p.L390F OXA1L_ENST00000412791.1_Missense_Mutation_p.L379F|OXA1L_ENST00000604262.1_Missense_Mutation_p.L406F|OXA1L_ENST00000285848.5_Missense_Mutation_p.L466F Q15070 OXA1L_HUMAN oxidase (cytochrome c) assembly 1-like 406 aerobic respiration|mitochondrial proton-transporting ATP synthase complex assembly|mitochondrial respiratory chain complex I assembly|negative regulation of ATPase activity|negative regulation of oxidoreductase activity|protein insertion into membrane|protein tetramerization integral to mitochondrial membrane|mitochondrial respiratory chain|protein complex protein homodimerization activity|ribosome binding central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|skin(2) 19 all_cancers(95;8.44e-05) GBM - Glioblastoma multiforme(265;0.0096) CCACAACCCTCTCCTACAACC 0.453000 36 148 0 0 1 0 0 RALYL 138046 broad.mit.edu 37 8 85441762 85441762 + Missense_Mutation SNP G G C TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr8:85441762G>C ENST00000521268.1 + 2 1311 c.206G>C c.(205-207)aGa>aCa p.R69T RALYL_ENST00000521695.1_Missense_Mutation_p.R69T|RALYL_ENST00000518566.1_Missense_Mutation_p.R69T|RALYL_ENST00000517638.1_Missense_Mutation_p.R82T|RALYL_ENST00000522455.1_Missense_Mutation_p.R69T NM_173848.5 NP_776247.3 Q86SE5 RALYL_HUMAN RALY RNA binding protein-like 69 RRM. identical protein binding|nucleotide binding|RNA binding endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1) 24 CGACATGCAAGAGCTGCAGTG 0.428000 14 63 0 0 1 0 0 STAG3L2 442582 broad.mit.edu 37 7 74301262 74301262 + RNA SNP T T A TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr7:74301262T>A ENST00000423186.1 - 0 499 P0CL84 ST3L2_HUMAN nucleus binding breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1) 5 AGGACATCCCTAGACACAGAC 0.443000 86 322 0 0 1 0 0 IGLV2-18 28814 broad.mit.edu 37 22 23077464 23077464 + RNA SNP G G A TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr22:23077464G>A ENST00000390310.2 + 0 254 AGGGGTCCCTGATCGCTTCTC 0.552000 85 246 0 0 1 0 0 PRPF3 9129 broad.mit.edu 37 1 150321635 150321635 + Missense_Mutation SNP G G A TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr1:150321635G>A ENST00000324862.6 + 15 2011 c.1846G>A c.(1846-1848)Gat>Aat p.D616N PRPF3_ENST00000414970.2_Missense_Mutation_p.D567N|PRPF3_ENST00000467329.1_3'UTR NM_004698.2 NP_004689.1 O43395 PRPF3_HUMAN pre-mRNA processing factor 3 616 nuclear mRNA splicing, via spliceosome Cajal body|cytoplasm|nuclear speck|spliceosomal complex protein binding breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) Colorectal(1306;0.0149) TCTTCCAGATGATGAGGAGTC 0.363000 29 126 0 0 1 0 0 CAPN10 11132 broad.mit.edu 37 2 241535885 241535885 + Silent SNP C C T TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr2:241535885C>T ENST00000391984.2 + 8 1624 c.1428C>T c.(1426-1428)gaC>gaT p.D476D CAPN10_ENST00000404753.3_Silent_p.D476D|CAPN10_ENST00000270364.7_Intron|CAPN10_ENST00000354082.4_Intron|CAPN10_ENST00000352879.4_Intron NM_023083.3 NP_075571.1 Q9HC96 CAN10_HUMAN calpain 10 476 Domain III 1. actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis cytosol|plasma membrane calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1) 27 all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032) TCCTGAAGGACGCGCCAGGGG 0.657000 56 59 0 0 1 0 0 ZNF737 100129842 broad.mit.edu 37 19 20736542 20736542 + Missense_Mutation SNP C C G TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr19:20736542C>G ENST00000427401.4 - 2 197 c.103G>C c.(103-105)Gag>Cag p.E35Q ZNF737_ENST00000596797.1_Missense_Mutation_p.E35Q NM_001159293.1 NP_001152765.1 C9JHM3 C9JHM3_HUMAN zinc finger protein 737 35 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1) 13 CTGTAGTTCTCTAACATCACA 0.378000 38 170 0 0 1 0 0 GPRASP1 9737 broad.mit.edu 37 X 101910480 101910480 + Missense_Mutation SNP G G A TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chrX:101910480G>A ENST00000537097.1 + 6 2452 c.1639G>A c.(1639-1641)Gaa>Aaa p.E547K GPRASP1_ENST00000361600.5_Missense_Mutation_p.E547K|GPRASP1_ENST00000444152.1_Missense_Mutation_p.E547K|GPRASP1_ENST00000415986.1_Missense_Mutation_p.E547K|RP4-769N13.7_ENST00000602441.1_RNA NM_001184727.1 NP_001171656.1 Q5JY77 GASP1_HUMAN G protein-coupled receptor associated sorting protein 1 547 Glu-rich. cytoplasm protein binding NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 GTCTGAGGAAGAAGAGGTCAT 0.512000 55 200 0 0 1 0 0 RET 5979 broad.mit.edu 37 10 43617453 43617453 + Silent SNP G G A TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr10:43617453G>A ENST00000355710.3 + 16 3022 c.2790G>A c.(2788-2790)acG>acA p.T930T RET_ENST00000340058.5_Silent_p.T930T NM_020975.4 NP_066124.1 P07949 RET_HUMAN ret proto-oncogene 930 Protein kinase. homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development integral to membrane ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity CCDC6/RET(4)|KIF5B/RET(79) NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1) 607 Ovarian(717;0.0423) Sunitinib(DB01268) TCTACACCACGCAAAGTGATG 0.453000 1 """T, Mis, N, F""" """H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6""" """medullary thyroid, papillary thyroid, pheochromocytoma, NSCLC""" """medullary thyroid, papillary thyroid, pheochromocytoma""" Hirschsprung disease Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma 29 178 0 0 1 0 0 NFKBIZ 64332 broad.mit.edu 37 3 101572436 101572436 + Missense_Mutation SNP C C T TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr3:101572436C>T ENST00000326172.5 + 5 1181 c.1066C>T c.(1066-1068)Ccc>Tcc p.P356S NFKBIZ_ENST00000326151.5_Intron|NFKBIZ_ENST00000394054.2_Missense_Mutation_p.P256S NM_031419.3 NP_113607.1 Q9BYH8 IKBZ_HUMAN nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta 356 Required for transcriptional activity (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 24 TATTGCTAATCCCATGCAGAC 0.488000 42 106 0 0 1 0 0 DMRTA1 63951 broad.mit.edu 37 9 22451624 22451624 + Missense_Mutation SNP C C G TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr9:22451624C>G ENST00000325870.1 + 2 1454 c.1229C>G c.(1228-1230)tCt>tGt p.S410C NM_022160.2 NP_071443.2 Q5VZB9 DMRTA_HUMAN DMRT-like family A1 410 cell differentiation|sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity breast(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 15 all_cancers(5;4.09e-243)|Acute lymphoblastic leukemia(3;8.25e-150)|all_hematologic(3;4.25e-147)|Esophageal squamous(3;2.32e-09)|Renal(3;1.71e-07)|Breast(3;2.07e-06)|Hepatocellular(5;0.00563) GBM - Glioblastoma multiforme(1;5.12e-278)|Lung(24;8.2e-52)|LUSC - Lung squamous cell carcinoma(38;1.46e-37)|OV - Ovarian serous cystadenocarcinoma(39;0.0517) TCAGCTTTCTCTCCTCTTCAA 0.408000 35 129 0 0 1 0 0 LRRC30 339291 broad.mit.edu 37 18 7231853 7231853 + Silent SNP C C G TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr18:7231853C>G ENST00000383467.2 + 1 731 c.717C>G c.(715-717)ctC>ctG p.L239L NM_001105581.1 NP_001099051.1 A6NM36 LRC30_HUMAN leucine rich repeat containing 30 239 central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3) 31 TGCTGAACCTCAACAACAATG 0.577000 20 76 0 0 1 0 0 PRAMEF11 440560 broad.mit.edu 37 1 12887399 12887399 + Missense_Mutation SNP C C G TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr1:12887399C>G ENST00000535591.1 - 3 653 c.458G>C c.(457-459)cGc>cCc p.R153P NM_001146344.1 NP_001139816.1 O60813 PRA11_HUMAN PRAME family member 11 153 NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1) 27 TCTGATATTGCGGAAGGGCAT 0.468000 109 449 0 0 1 0 0 NOTCH4 4855 broad.mit.edu 37 6 32163492 32163492 + Missense_Mutation SNP G G A TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr6:32163492G>A ENST00000375023.3 - 30 5872 c.5734C>T c.(5734-5736)Cgc>Tgc p.R1912C NOTCH4_ENST00000443903.2_3'UTR NM_004557.3 NP_004548.3 Q99466 NOTC4_HUMAN notch 4 1912 cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1) 100 CTACGGCCGCGAGGGGTCGGG 0.687000 15 71 0 0 1 0 0 IL22RA1 58985 broad.mit.edu 37 1 24460775 24460775 + Missense_Mutation SNP G G A TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr1:24460775G>A ENST00000270800.1 - 4 495 c.457C>T c.(457-459)Cgg>Tgg p.R153W NM_021258.3 NP_067081.2 Q8N6P7 I22R1_HUMAN interleukin 22 receptor, alpha 1 153 Fibronectin type-III 2. integral to membrane interferon receptor activity breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 19 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148) AGGGTTAGCCGGTGGCCATCG 0.522000 4 49 0 0 1 0 0 TTC1 7265 broad.mit.edu 37 5 159437680 159437680 + Missense_Mutation SNP G G A TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr5:159437680G>A ENST00000231238.5 + 2 255 c.145G>A c.(145-147)Gat>Aat p.D49N TTC1_ENST00000522793.1_Missense_Mutation_p.D49N NM_003314.1 NP_003305.1 Q99614 TTC1_HUMAN tetratricopeptide repeat domain 1 49 protein folding unfolded protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|prostate(1)|skin(1) 12 Renal(175;0.00196) all_hematologic(541;0.00014)|Breast(839;0.0101)|all_neural(177;0.0281)|Medulloblastoma(196;0.0425)|Lung NSC(249;0.119)|all_lung(500;0.163) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Epithelial(171;8.37e-05)|all cancers(165;0.000694)|OV - Ovarian serous cystadenocarcinoma(192;0.0402) GCTCAGGGATGATGAGGCCCA 0.517000 12 39 0 0 1 0 0 SMTNL1 219537 broad.mit.edu 37 11 57317567 57317567 + Silent SNP G G A TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr11:57317567G>A ENST00000457912.1 + 8 1521 c.1521G>A c.(1519-1521)gtG>gtA p.V507V SMTNL1_ENST00000399154.2_Silent_p.V452V|SMTNL1_ENST00000527972.1_Silent_p.V489V E9PPJ3 E9PPJ3_HUMAN smoothelin-like 1 489 endometrium(2)|large_intestine(1)|lung(4)|ovary(1) 8 AAGGACTGGTGAAGACCAAGA 0.597000 4 17 0 0 1 0 0 APC 324 broad.mit.edu 37 5 112175771 112175771 + Missense_Mutation SNP G G C TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr5:112175771G>C ENST00000457016.1 + 16 4860 c.4480G>C c.(4480-4482)Gaa>Caa p.E1494Q APC_ENST00000508376.2_Missense_Mutation_p.E1494Q|APC_ENST00000257430.4_Missense_Mutation_p.E1494Q|CTC-554D6.1_ENST00000520401.1_Intron P25054 APC_HUMAN adenomatous polyposis coli 1494 Ser-rich. canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity p.E1494fs*13(7)|p.E1494fs*19(3)|p.?(1)|p.K1454fs*3(1)|p.L1488fs*13(1)|p.S1495fs*19(1)|p.K1192fs*3(1)|p.T1493fs*13(1)|p.E1494*(1)|p.E1494fs*12(1)|p.E1494fs*11(1)|p.T1493fs*17(1) NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20) 3261 all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133) OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191) TTTTGCCACGGAAAGTACTCC 0.438000 12 """D, Mis, N, F, S""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis TSP Lung(16;0.13) 22 114 0 0 1 0 0 DDX1 1653 broad.mit.edu 37 2 15758387 15758387 + Missense_Mutation SNP G G C rs146515867 TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr2:15758387G>C ENST00000381341.2 + 17 1588 c.1199G>C c.(1198-1200)aGa>aCa p.R400T DDX1_ENST00000233084.3_Missense_Mutation_p.R400T Q92499 DDX1_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 1 400 Helicase ATP-binding.|Necessary for interaction with RELA. DNA duplex unwinding|double-strand break repair|multicellular organismal development|regulation of transcription, DNA-dependent|regulation of translational initiation|spliceosome assembly|transcription, DNA-dependent cleavage body|stress granule|tRNA-splicing ligase complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|DNA/RNA helicase activity|exonuclease activity|poly(A) RNA binding|protein binding|RNA helicase activity|transcription cofactor activity p.R400T(1) autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(13)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 29 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197) all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694) GBM - Glioblastoma multiforme(3;0.00969) Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133) GATGGAAAAAGACTTCAGGTA 0.368000 22 121 0 0 1 0 0 ZMIZ1 57178 broad.mit.edu 37 10 81056365 81056365 + Silent SNP C C T TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr10:81056365C>T ENST00000334512.5 + 13 1940 c.1368C>T c.(1366-1368)tcC>tcT p.S456S ZMIZ1_ENST00000478357.1_3'UTR NM_020338.3 NP_065071.1 Q9ULJ6 ZMIZ1_HUMAN zinc finger, MIZ-type containing 1 456 Pro-rich. transcription, DNA-dependent cytoplasm|nuclear speck zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1) 30 all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985) Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229) AGCCGAGCTCCGGGCAGTACC 0.677000 11 67 0 0 1 0 0 ZNF750 79755 broad.mit.edu 37 17 80789502 80789502 + Nonsense_Mutation SNP C C A rs35283702 byFrequency TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr17:80789502C>A ENST00000269394.3 - 2 1662 c.829G>T c.(829-831)Gga>Tga p.G277* TBCD_ENST00000397466.2_Intron|TBCD_ENST00000539345.2_Intron|ZNF750_ENST00000572562.1_Intron|TBCD_ENST00000355528.4_Intron NM_024702.2 NP_078978.2 Q32MQ0 ZN750_HUMAN zinc finger protein 750 277 intracellular zinc ion binding NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 31 Breast(20;0.000523)|all_neural(118;0.0779) all_cancers(8;0.0514)|all_epithelial(8;0.0748) OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149) TCTTGGGTTCCGTAGACTGAC 0.597000 67 86 5.10508e-28 5.61971e-28 1 1 0 FAM110C 642273 broad.mit.edu 37 2 45627 45627 + Silent SNP G G A TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr2:45627G>A ENST00000327669.4 - 1 758 c.759C>T c.(757-759)gtC>gtT p.V253V NM_001077710.2 NP_001071178.2 Q1W6H9 F110C_HUMAN family with sequence similarity 110, member C 253 microtubule|microtubule organizing center|spindle pole central_nervous_system(1)|kidney(1)|lung(2) 4 all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.00221) all cancers(51;0.000815)|Epithelial(75;0.00379)|OV - Ovarian serous cystadenocarcinoma(76;0.0127)|GBM - Glioblastoma multiforme(21;0.232) CGGAGGTGGCGACGCTCACGC 0.692000 10 27 0 0 1 0 0 TXNDC2 84203 broad.mit.edu 37 18 9886265 9886265 + Missense_Mutation SNP G G A TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr18:9886265G>A ENST00000306084.6 + 1 293 c.94G>A c.(94-96)Gaa>Aaa p.E32K TXNDC2_ENST00000357775.4_Intron|TXNDC2_ENST00000536353.2_Intron|TXNDC2_ENST00000426718.3_Missense_Mutation_p.E32K|TXNDC2_ENST00000584255.1_Intron NM_001098529.1 NP_001091999.1 Q86VQ3 TXND2_HUMAN thioredoxin domain containing 2 (spermatozoa) 32 cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis cytoplasm electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1) 31 AGAAACAAGTGAAGGTGATGC 0.473000 7 20 0 0 1 0 0 DMD 1756 broad.mit.edu 37 X 32382754 32382754 + Missense_Mutation SNP G G T TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chrX:32382754G>T ENST00000357033.4 - 36 5305 c.5099C>A c.(5098-5100)aCa>aAa p.T1700K DMD_ENST00000378677.2_Missense_Mutation_p.T1696K NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2 NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1 P11532 DMD_HUMAN dystrophin 1700 Interaction with SYNM (By similarity). muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) ATCCAAAAGTGTGTCAGCCTG 0.383000 33 146 2.08457e-15 2.21435e-15 1 1 0 ZNF606 80095 broad.mit.edu 37 19 58491078 58491078 + Missense_Mutation SNP G G C TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr19:58491078G>C ENST00000341164.4 - 7 1590 c.970C>G c.(970-972)Caa>Gaa p.Q324E ZNF606_ENST00000536132.1_Missense_Mutation_p.Q234E NM_025027.3 NP_079303.2 Q8WXB4 ZN606_HUMAN zinc finger protein 606 324 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168) TTAAAGATTTGATGGCATTCC 0.313000 31 78 0 0 1 0 0 USP42 84132 broad.mit.edu 37 7 6150815 6150815 + Missense_Mutation SNP G G T TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr7:6150815G>T ENST00000306177.5 + 2 209 c.51G>T c.(49-51)caG>caT p.Q17H NM_032172.2 NP_115548.1 Q9H9J4 UBP42_HUMAN ubiquitin specific peptidase 42 17 cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 35 Ovarian(82;0.0423) UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14) CAGCCTATCAGAATCAGCCTG 0.458000 6 26 0.0215528 0.021632 1 1 0 CDH18 1016 broad.mit.edu 37 5 19483611 19483611 + Nonsense_Mutation SNP G G A TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr5:19483611G>A ENST00000507958.1 - 14 2671 c.1681C>T c.(1681-1683)Cag>Tag p.Q561* CDH18_ENST00000382275.1_Nonsense_Mutation_p.Q561*|CDH18_ENST00000502796.1_Intron|CDH18_ENST00000274170.4_Nonsense_Mutation_p.Q561*|CDH18_ENST00000506372.1_Intron Q13634 CAD18_HUMAN cadherin 18, type 2 561 Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1) 138 Lung NSC(1;0.00734)|all_lung(1;0.0197) TACACATCCTGAACAGTTCGA 0.463000 13 55 0 0 1 0 0 SEMA6D 80031 broad.mit.edu 37 15 48056379 48056379 + Missense_Mutation SNP G G T TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr15:48056379G>T ENST00000316364.5 + 11 1413 c.974G>T c.(973-975)gGt>gTt p.G325V SEMA6D_ENST00000389428.3_Missense_Mutation_p.G325V|SEMA6D_ENST00000389425.3_Missense_Mutation_p.G325V|SEMA6D_ENST00000537942.1_Missense_Mutation_p.G325V|SEMA6D_ENST00000536845.2_Missense_Mutation_p.G325V|SEMA6D_ENST00000354744.4_Missense_Mutation_p.G325V|SEMA6D_ENST00000358066.4_Missense_Mutation_p.G325V|SEMA6D_ENST00000558816.1_Missense_Mutation_p.G325V|SEMA6D_ENST00000558014.1_Missense_Mutation_p.G325V|SEMA6D_ENST00000389433.2_Missense_Mutation_p.G325V|SEMA6D_ENST00000389432.2_Missense_Mutation_p.G325V|SEMA6D_ENST00000355997.3_Missense_Mutation_p.G325V NM_153618.1 NP_705871.1 Q8NFY4 SEM6D_HUMAN sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D 325 Sema. axon guidance cytoplasm|integral to membrane|plasma membrane receptor activity biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 77 all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18) all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06) AGCATCCCTGGTTCTGCTGTC 0.458000 35 124 1.49673e-21 1.62146e-21 1 1 0 TNFAIP1 7126 broad.mit.edu 37 17 26671454 26671454 + Missense_Mutation SNP G G A TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr17:26671454G>A ENST00000226225.2 + 7 1046 c.779G>A c.(778-780)cGc>cAc p.R260H TNFAIP1_ENST00000544907.2_Missense_Mutation_p.R156H|TNFAIP1_ENST00000583213.1_3'UTR NM_021137.4 NP_066960.1 Q13829 BACD2_HUMAN tumor necrosis factor, alpha-induced protein 1 (endothelial) 260 apoptosis|cell migration|DNA replication|embryo development|immune response|negative regulation of Rho protein signal transduction|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|stress fiber assembly Cul3-RING ubiquitin ligase complex|endosome|nucleus|voltage-gated potassium channel complex GTP-Rho binding|voltage-gated potassium channel activity endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|prostate(1) 12 all_lung(13;0.000294)|Lung NSC(42;0.000964) UCEC - Uterine corpus endometrioid carcinoma (53;0.153) GAGACTCCCCGCGTCCCCGAC 0.587000 19 49 0 0 1 0 0 VSTM4 196740 broad.mit.edu 37 10 50315639 50315639 + Splice_Site SNP C C T TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr10:50315639C>T ENST00000332853.3 - 2 480 c.457_splice c.e2+1 p.V153_splice VSTM4_ENST00000298454.3_Splice_Site_p.G153_splice NM_001031746.3 NP_001026916.2 Q8IW00 CJ072_HUMAN V-set and transmembrane domain containing 4 153 Ig-like. integral to membrane|plasma membrane breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2) 31 AGACCCTCACCTCTCATTTCC 0.622000 11 39 0 0 1 0 0 CLDN4 1364 broad.mit.edu 37 7 73245893 73245893 + Missense_Mutation SNP C C T rs138373200 TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr7:73245893C>T ENST00000435050.1 + 2 3042 c.362C>T c.(361-363)gCg>gTg p.A121V CLDN4_ENST00000340958.2_Missense_Mutation_p.A121V|CLDN4_ENST00000431918.1_Missense_Mutation_p.A121V O14493 CLD4_HUMAN claudin 4 121 calcium-independent cell-cell adhesion integral to plasma membrane|tight junction identical protein binding|structural molecule activity|transmembrane receptor activity kidney(2)|lung(4)|urinary_tract(1) 7 Lung NSC(55;0.159) ATGATCGTGGCGGGCGTGGTG 0.607000 16 33 0 0 1 0 0 KIF11 3832 broad.mit.edu 37 10 94405203 94405203 + Missense_Mutation SNP G G A TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr10:94405203G>A ENST00000260731.3 + 18 2441 c.2351G>A c.(2350-2352)aGa>aAa p.R784K NM_004523.3 NP_004514.2 P52732 KIF11_HUMAN kinesin family member 11 784 blood coagulation|cell division|microtubule-based movement|spindle assembly involved in mitosis chromatin remodeling complex|cytosol|kinesin complex|microtubule|spindle pole ATP binding|microtubule motor activity|protein kinase binding breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 CAGGAACTCAGAAATTTTAAC 0.343000 24 57 0 0 1 0 0 PIAS2 9063 broad.mit.edu 37 18 44409730 44409730 + Missense_Mutation SNP T T C TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr18:44409730T>C ENST00000585916.1 - 10 1302 c.1303A>G c.(1303-1305)Aaa>Gaa p.K435E PIAS2_ENST00000324794.7_Missense_Mutation_p.K435E|PIAS2_ENST00000545673.1_Missense_Mutation_p.K145E NM_004671.3 NP_004662.2 O75928 PIAS2_HUMAN protein inhibitor of activated STAT, 2 435 androgen receptor signaling pathway|negative regulation of androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck|PML body androgen receptor binding|DNA binding|protein binding|SUMO ligase activity|transcription coactivator activity|zinc ion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 22 CTGGATACTTTCATAGCTTCT 0.388000 50 214 0 0 1 0 0 SIDT1 54847 broad.mit.edu 37 3 113285336 113285336 + Missense_Mutation SNP C C T TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr3:113285336C>T ENST00000264852.4 + 2 1018 c.292C>T c.(292-294)Cgc>Tgc p.R98C SIDT1_ENST00000393830.3_Missense_Mutation_p.R98C NM_017699.2 NP_060169.2 Q9NXL6 SIDT1_HUMAN SID1 transmembrane family, member 1 98 integral to membrane breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 50 TGTTGTGGTTCGCCAGCAGAA 0.493000 30 133 0 0 1 0 0 GPRC6A 222545 broad.mit.edu 37 6 117128338 117128338 + Missense_Mutation SNP C C A TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr6:117128338C>A ENST00000310357.3 - 3 551 c.530G>T c.(529-531)aGt>aTt p.S177I GPRC6A_ENST00000530250.1_Missense_Mutation_p.S177I|GPRC6A_ENST00000368549.3_Missense_Mutation_p.S177I NM_148963.2 NP_683766.2 Q5T6X5 GPC6A_HUMAN G protein-coupled receptor, family C, group 6, member A 177 response to amino acid stimulus G-protein coupled receptor activity autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3) 65 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07) AATTTTGTCACTCAGGATTTC 0.408000 26 145 4.72057e-08 4.82665e-08 1 1 0 HMCN1 83872 broad.mit.edu 37 1 186045667 186045667 + Missense_Mutation SNP G G A TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr1:186045667G>A ENST00000271588.4 + 54 8627 c.8398G>A c.(8398-8400)Gag>Aag p.E2800K HMCN1_ENST00000367492.2_Missense_Mutation_p.E2800K NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 2800 Ig-like C2-type 26. 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 TCTTTACTGTGAGACAAATGC 0.418000 21 75 0 0 1 0 0 SERPINE1 5054 broad.mit.edu 37 7 100777052 100777052 + Missense_Mutation SNP C C G TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr7:100777052C>G ENST00000223095.4 + 5 934 c.777C>G c.(775-777)ttC>ttG p.F259L SERPINE1_ENST00000445463.2_Missense_Mutation_p.F244L NM_000602.4 NP_000593.1 P05121 PAI1_HUMAN serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1 259 angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen protease binding|serine-type endopeptidase inhibitor activity central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3) 20 Lung NSC(181;0.136)|all_lung(186;0.182) Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013) TCAGCATGTTCATTGCTGCCC 0.552000 19 82 0 0 1 0 0 KIAA0754 643314 broad.mit.edu 37 1 39876601 39876601 + Nonsense_Mutation SNP C C T TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr1:39876601C>T ENST00000530275.1 + 1 451 c.256C>T c.(256-258)Cag>Tag p.Q86* MACF1_ENST00000564288.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000567887.1_Intron NM_015038.1 NP_055853.1 O94854 K0754_HUMAN KIAA0754 86 13 X 13 AA approximate tandem repeat of P-T-S-P-A-A-A-V-P-T-P-E-E. central_nervous_system(1)|large_intestine(6)|skin(1) 8 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) CTTTAGATTTCAGCAGCACAG 0.433000 OREG0013393 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 21 76 0 0 1 0 0 EML3 256364 broad.mit.edu 37 11 62377166 62377166 + Translation_Start_Site SNP C C T rs143147555 byFrequency TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr11:62377166C>T ENST00000531557.1 - 0 131 EML3_ENST00000494176.2_Missense_Mutation_p.R162H|EML3_ENST00000529309.1_Missense_Mutation_p.R190H|EML3_ENST00000394773.2_Missense_Mutation_p.R190H|EML3_ENST00000278845.4_Missense_Mutation_p.R191H Q32P44 EMAL3_HUMAN echinoderm microtubule associated protein like 3 cytoplasm|microtubule protein binding biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 TTTTCCCCCACGGCTGTTGGG 0.552000 6 215 0 0 1 0 0 C11orf35 256329 broad.mit.edu 37 11 558218 558218 + Silent SNP C C T TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr11:558218C>T ENST00000329451.3 - 4 404 c.342G>A c.(340-342)caG>caA p.Q114Q RP11-496I9.1_ENST00000527620.1_RNA NM_173573.2 NP_775844.2 Q8IXW0 CK035_HUMAN chromosome 11 open reading frame 35 114 NS(1)|breast(1)|central_nervous_system(1)|lung(4)|pancreas(1) 8 all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) GGACCTGGTTCTGCAGGAGTT 0.627000 54 76 0 0 1 0 0 UBA7 7318 broad.mit.edu 37 3 49847986 49847986 + Silent SNP G G C TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr3:49847986G>C ENST00000333486.3 - 12 1589 c.1431C>G c.(1429-1431)ctC>ctG p.L477L NM_003335.2 NP_003326.2 P41226 UBA7_HUMAN ubiquitin-like modifier activating enzyme 7 477 2 approximate repeats. ISG15-protein conjugation|negative regulation of type I interferon production cytosol ATP binding|ISG15 activating enzyme activity|ligase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 33 BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607) ACTGACGGCTGAGATTGGAGC 0.592000 54 210 0 0 1 0 0 GIMAP8 155038 broad.mit.edu 37 7 150171384 150171384 + Missense_Mutation SNP G G A TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr7:150171384G>A ENST00000307271.3 + 4 1541 c.967G>A c.(967-969)Ggc>Agc p.G323S NM_175571.2 NP_783161.1 Q8ND71 GIMA8_HUMAN GTPase, IMAP family member 8 323 endoplasmic reticulum|Golgi apparatus|mitochondrion GTP binding breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.17) CATCTGTACAGGCCCCCATGC 0.428000 14 97 0 0 1 0 0 KDM5B 10765 broad.mit.edu 37 1 202698874 202698874 + Silent SNP G G A TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr1:202698874G>A ENST00000367265.3 - 26 5622 c.4458C>T c.(4456-4458)atC>atT p.I1486I KDM5B_ENST00000367264.2_Silent_p.I1522I NM_006618.3 NP_006609.3 Q9UGL1 KDM5B_HUMAN lysine (K)-specific demethylase 5B 1486 negative regulation of transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding breast(2)|ovary(2)|skin(1)|urinary_tract(1) 6 CAGCTGGGCAGATGGCATCTT 0.507000 28 102 0 0 1 0 0 HECTD1 25831 broad.mit.edu 37 14 31602773 31602773 + Silent SNP G G A TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr14:31602773G>A ENST00000399332.1 - 23 4175 c.3687C>T c.(3685-3687)ctC>ctT p.L1229L HECTD1_ENST00000553700.1_Silent_p.L1229L NM_015382.2 NP_056197.2 Q9ULT8 HECD1_HUMAN HECT domain containing E3 ubiquitin protein ligase 1 1229 protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular metal ion binding|protein binding|ubiquitin-protein ligase activity breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 70 Hepatocellular(127;0.0877)|Breast(36;0.176) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00617) CAGATAATGAGAGGTAGTGTG 0.403000 27 109 0 0 1 0 0 KDM4B 23030 broad.mit.edu 37 19 5047575 5047575 + Missense_Mutation SNP C C T TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr19:5047575C>T ENST00000159111.4 + 6 739 c.521C>T c.(520-522)aCg>aTg p.T174M KDM4B_ENST00000592175.1_3'UTR|KDM4B_ENST00000536461.1_Missense_Mutation_p.T174M|KDM4B_ENST00000381759.4_Missense_Mutation_p.T174M NM_015015.2 NP_055830.1 O94953 KDM4B_HUMAN lysine (K)-specific demethylase 4B 174 JmjC. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 32 GGCGTGAACACGCCCTACCTG 0.622000 29 98 0 0 1 0 0 CCAR2 57805 broad.mit.edu 37 8 22473750 22473750 + Missense_Mutation SNP G G A TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr8:22473750G>A ENST00000308511.4 + 14 2083 c.1834G>A c.(1834-1836)Gag>Aag p.E612K KIAA1967_ENST00000389279.3_Missense_Mutation_p.E612K|RP11-582J16.5_ENST00000521025.1_RNA|KIAA1967_ENST00000520861.1_Missense_Mutation_p.E287K Q8N163 K1967_HUMAN 612 apoptosis|positive regulation of apoptosis mitochondrial matrix|nucleus enzyme binding|enzyme inhibitor activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(5) 25 Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142) BRCA - Breast invasive adenocarcinoma(99;0.00593)|Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064) TACAGAGTCAGAGGCCCCGCT 0.612000 35 81 0 0 1 0 0 BRPF3 27154 broad.mit.edu 37 6 36168550 36168550 + Missense_Mutation SNP G G A TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr6:36168550G>A ENST00000357641.6 + 2 704 c.451G>A c.(451-453)Gag>Aag p.E151K BRPF3_ENST00000534694.1_Missense_Mutation_p.E151K|BRPF3_ENST00000443324.2_Missense_Mutation_p.E151K|BRPF3_ENST00000534400.1_Missense_Mutation_p.E151K|BRPF3_ENST00000339717.7_Missense_Mutation_p.E151K|BRPF3_ENST00000543502.1_Missense_Mutation_p.E151K NM_015695.2 NP_056510.2 Q9ULD4 BRPF3_HUMAN bromodomain and PHD finger containing, 3 151 histone H3 acetylation|platelet activation|platelet degranulation cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex protein binding|zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2) 40 CCTGGATGCAGAGGTAGAGTA 0.547000 13 51 0 0 1 0 0 LEF1 51176 broad.mit.edu 37 4 109086270 109086270 + Missense_Mutation SNP C C T TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr4:109086270C>T ENST00000379951.2 - 2 1451 c.263G>A c.(262-264)aGa>aAa p.R88K LEF1_ENST00000512172.1_Missense_Mutation_p.R20K|LEF1_ENST00000438313.2_Missense_Mutation_p.R88K|LEF1_ENST00000510624.1_Missense_Mutation_p.R20K|LEF1_ENST00000265165.1_Missense_Mutation_p.R88K NM_001130713.2|NM_001130714.2 NP_001124185.1|NP_001124186.1 Q9UJU2 LEF1_HUMAN lymphoid enhancer-binding factor 1 88 Pro-rich. canonical Wnt receptor signaling pathway|cell chemotaxis|cellular response to interleukin-4|epithelial to mesenchymal transition|histone H3 acetylation|histone H4 acetylation|negative regulation of apoptosis in bone marrow|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell-cell adhesion|negative regulation of DNA binding|negative regulation of estrogen receptor binding|negative regulation of interleukin-13 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of transcription, DNA-dependent|neutrophil differentiation|osteoblast differentiation|palate development|positive regulation by host of viral transcription|positive regulation of cell cycle process|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cell proliferation in bone marrow|positive regulation of cell-cell adhesion|positive regulation of epithelial to mesenchymal transition|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|T-helper 1 cell differentiation cytoplasm|protein-DNA complex|transcription factor complex armadillo repeat domain binding|beta-catenin binding|C2H2 zinc finger domain binding|caspase inhibitor activity|DNA bending activity|enhancer binding|estrogen receptor activity|estrogen receptor binding|gamma-catenin binding|histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1) 25 OV - Ovarian serous cystadenocarcinoma(123;0.000224) GGGGTGTTCTCTGGCCTTGTC 0.443000 28 98 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179615321 179615321 + Nonsense_Mutation SNP G G A rs147087155 by1000genomes TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr2:179615321G>A ENST00000360870.5 - 46 12028 c.11806C>T c.(11806-11808)Cga>Tga p.R3936* TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000359218.5_Intron NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 9753 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) GGGCGTTTTCGAAAAGAATTT 0.353000 21 67 0 0 1 0 0 LIMK2 3985 broad.mit.edu 37 22 31662976 31662976 + Missense_Mutation SNP C C T TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr22:31662976C>T ENST00000331728.4 + 9 1162 c.1048C>T c.(1048-1050)Cac>Tac p.H350Y LIMK2_ENST00000406516.1_Missense_Mutation_p.H272Y|LIMK2_ENST00000340552.4_Missense_Mutation_p.H329Y|LIMK2_ENST00000444929.2_Missense_Mutation_p.H104Y|LIMK2_ENST00000333611.4_Missense_Mutation_p.H329Y NM_005569.3 NP_005560.1 P53671 LIMK2_HUMAN LIM domain kinase 2 350 Protein kinase. mitochondrion|nucleus ATP binding|protein serine/threonine kinase activity|zinc ion binding endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1) 29 GTAGGTGACACACAAAGCCAC 0.488000 9 30 0 0 1 0 0 PDE4B 5142 broad.mit.edu 37 1 66833738 66833738 + Missense_Mutation SNP A A T TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr1:66833738A>T ENST00000423207.2 + 13 2092 c.1607A>T c.(1606-1608)gAt>gTt p.D536V PDE4B_ENST00000371045.5_Missense_Mutation_p.D379V|PDE4B_ENST00000371049.3_Missense_Mutation_p.D551V|PDE4B_ENST00000329654.4_Missense_Mutation_p.D551V|PDE4B_ENST00000480109.2_Missense_Mutation_p.D318V NM_001037340.1 NP_001032417.1 Q07343 PDE4B_HUMAN phosphodiesterase 4B, cAMP-specific 551 signal transduction cytosol|insoluble fraction|soluble fraction 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 37 Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277) AACTATACCGATCGCATTCAG 0.363000 4 64 0 0 1 0 0 LRRC71 149499 broad.mit.edu 37 1 156897772 156897772 + Silent SNP A A G TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr1:156897772A>G ENST00000337428.7 + 9 1126 c.972A>G c.(970-972)aaA>aaG p.K324K LRRC71_ENST00000490146.1_3'UTR NM_144702.2 NP_653303.2 Q8N4P6 LRC71_HUMAN leucine rich repeat containing 71 324 endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|stomach(1) 12 TGCTGGAAAAAGGGACACAGG 0.677000 OREG0013892 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 31 0 0 1 0 0 CRY2 1408 broad.mit.edu 37 11 45892066 45892066 + Missense_Mutation SNP C C T TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr11:45892066C>T ENST00000443527.2 + 9 1617 c.1595C>T c.(1594-1596)tCg>tTg p.S532L CRY2_ENST00000417225.2_Missense_Mutation_p.S450L NM_021117.3 NP_066940.2 Q49AN0 CRY2_HUMAN cryptochrome 2 (photolyase-like) 511 DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus blue light photoreceptor activity|damaged DNA binding|DNA photolyase activity|nucleotide binding|protein binding|single-stranded DNA binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2) 15 CAGCAGCTTTCGCGCTACCGG 0.542000 13 40 0 0 1 0 0 CCNA1 8900 broad.mit.edu 37 13 37006796 37006796 + Missense_Mutation SNP C C G TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr13:37006796C>G ENST00000418263.1 + 1 388 c.38C>G c.(37-39)tCt>tGt p.S13C CCNA1_ENST00000255465.4_Missense_Mutation_p.S13C|CCNA1_ENST00000440264.1_Intron|CCNA1_ENST00000463403.1_Intron|CCNA1_ENST00000449823.1_Intron NM_001111045.1|NM_003914.3 NP_001104515.1|NP_003905.1 P78396 CCNA1_HUMAN cyclin A1 13 cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis cytosol|microtubule cytoskeleton|nucleoplasm protein kinase binding breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1) 35 Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242) TACCCTGGATCTTTTATTGGG 0.587000 6 34 0 0 1 0 0 LANCL3 347404 broad.mit.edu 37 X 37431383 37431383 + Missense_Mutation SNP C C T TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chrX:37431383C>T ENST00000378621.3 + 1 562 c.260C>T c.(259-261)aCg>aTg p.T87M LANCL3_ENST00000378619.3_Missense_Mutation_p.T87M|TM4SF2_ENST00000465127.1_Intron NM_198511.2 NP_940913.1 Q6ZV70 LANC3_HUMAN LanC lantibiotic synthetase component C-like 3 (bacterial) 87 catalytic activity lung(4)|pancreas(1) 5 CTTTTCGCCACGGCCCGGGAA 0.721000 4 35 0 0 1 0 0 TCOF1 6949 broad.mit.edu 37 5 149754329 149754329 + Silent SNP G G A TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr5:149754329G>A ENST00000451292.1 + 9 1341 c.1233G>A c.(1231-1233)caG>caA p.Q411Q TCOF1_ENST00000513346.1_Silent_p.Q411Q|TCOF1_ENST00000504761.2_Silent_p.Q411Q|TCOF1_ENST00000394269.3_Silent_p.Q411Q|TCOF1_ENST00000377797.3_Silent_p.Q411Q|TCOF1_ENST00000439160.2_Silent_p.Q411Q|TCOF1_ENST00000445265.2_Silent_p.Q334Q|TCOF1_ENST00000323668.7_Silent_p.Q334Q Q13428 TCOF_HUMAN Treacher Collins-Franceschetti syndrome 1 411 skeletal system development nucleolus protein binding|transporter activity NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 35 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) AGGACTCGCAGAGCAGCAGCG 0.677000 7 21 0 0 1 0 0 AMPH 273 broad.mit.edu 37 7 38502594 38502594 + Missense_Mutation SNP C C T rs147284975 TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr7:38502594C>T ENST00000356264.2 - 10 1084 c.869G>A c.(868-870)cGg>cAg p.R290Q AMPH_ENST00000325590.5_Missense_Mutation_p.R290Q|AMPH_ENST00000428293.2_Missense_Mutation_p.R290Q NM_001635.3 NP_001626.1 P49418 AMPH_HUMAN amphiphysin 290 endocytosis|synaptic transmission actin cytoskeleton|cell junction|synaptic vesicle membrane breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2) 62 TGACCGAGGCCGTGCTGGTGC 0.552000 28 81 0 0 1 0 0 PC 5091 broad.mit.edu 37 11 66638908 66638908 + Missense_Mutation SNP G G C TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr11:66638908G>C ENST00000393960.1 - 6 646 c.365C>G c.(364-366)tCt>tGt p.S122C PC_ENST00000393955.2_Missense_Mutation_p.S122C|PC_ENST00000393958.2_Missense_Mutation_p.S122C|PC_ENST00000355677.3_Missense_Mutation_p.S122C|PC_ENST00000524491.1_Missense_Mutation_p.S82C NM_001040716.1 NP_001035806.1 P11498 PYC_HUMAN pyruvate carboxylase 122 Biotin carboxylation. gluconeogenesis|lipid biosynthetic process mitochondrial matrix ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Melanoma(852;0.0525) Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227) Biotin(DB00121)|Pyruvic acid(DB00119) CGCTCGCTCAGAGAGGAACCC 0.632000 28 113 0 0 1 0 0 NETO2 81831 broad.mit.edu 37 16 47156636 47156636 + Missense_Mutation SNP C C G TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr16:47156636C>G ENST00000562435.1 - 6 970 c.586G>C c.(586-588)Gag>Cag p.E196Q NETO2_ENST00000303155.5_Missense_Mutation_p.E189Q NM_018092.4 NP_060562.3 Q8NC67 NETO2_HUMAN neuropilin (NRP) and tolloid (TLL)-like 2 196 CUB 2. integral to membrane receptor activity breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 29 all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174) GTTTTCTCCTCTTGTTCTACC 0.438000 HNSCC(25;0.065) 45 131 0 0 1 0 0 STEAP2-AS1 100874100 broad.mit.edu 37 7 89749009 89749009 + RNA SNP G G A TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr7:89749009G>A ENST00000478318.2 - 0 424 RP5-1121E10.2_ENST00000471553.1_lincRNA|DPY19L2P4_ENST00000497063.1_RNA AGGTCCTTCCGGCGGAGGATC 0.642000 5 19 0 0 1 0 0 KCNJ6 3763 broad.mit.edu 37 21 39086695 39086695 + Silent SNP C C T TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr21:39086695C>T ENST00000400482.3 - 3 1354 c.765G>A c.(763-765)ttG>ttA p.L255L KCNJ6_ENST00000288309.6_Silent_p.L255L NM_002240.3 NP_002231.1 P48051 IRK6_HUMAN potassium inwardly-rectifying channel, subfamily J, member 6 255 synaptic transmission Golgi apparatus|voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 22 Halothane(DB01159) CCGTCTGGTTCAACGGGATGA 0.502000 31 101 0 0 1 0 0 EIF4ENIF1 56478 broad.mit.edu 37 22 31850333 31850333 + Missense_Mutation SNP C C T TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr22:31850333C>T ENST00000397525.1 - 10 1532 c.1309G>A c.(1309-1311)Gag>Aag p.E437K RP11-247I13.11_ENST00000464523.1_RNA|EIF4ENIF1_ENST00000382180.2_Missense_Mutation_p.E116K|EIF4ENIF1_ENST00000344710.5_Missense_Mutation_p.E274K|EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.E437K|EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.E437K NM_001164501.1 NP_001157973.1 Q9NRA8 4ET_HUMAN eukaryotic translation initiation factor 4E nuclear import factor 1 437 nucleus protein binding|protein transporter activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 GCTTCTACCTCCTCCACTGAA 0.463000 15 62 0 0 1 0 0 KRT19P2 160313 broad.mit.edu 37 12 95228661 95228661 + RNA SNP G G C TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr12:95228661G>C ENST00000405395.2 + 0 432 NR_036685.1 GCACCCTCCAGGGTCTTGAGA 0.567000 5 4 0 0 1 0 0 TMEM145 284339 broad.mit.edu 37 19 42827747 42827747 + Missense_Mutation SNP C C T TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr19:42827747C>T ENST00000301204.3 + 14 1248 c.1207C>T c.(1207-1209)Cca>Tca p.P403S NM_173633.2 NP_775904.2 Q8NBT3 TM145_HUMAN transmembrane protein 145 403 integral to membrane breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1) 27 Prostate(69;0.00682) CATGACCCGCCCATCAGCGGC 0.627000 12 40 0 0 1 0 0 HECTD4 283450 broad.mit.edu 37 12 112622357 112622357 + Silent SNP G G A TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr12:112622357G>A ENST00000550722.1 - 61 10370 c.9975C>T c.(9973-9975)gtC>gtT p.V3325V HECTD4_ENST00000430131.2_Silent_p.V3049V|HECTD4_ENST00000377560.5_Silent_p.V3299V NM_001109662.3 NP_001103132.3 HECT domain containing E3 ubiquitin protein ligase 4 TGGACGTGCTGACCTCCATGC 0.632000 12 30 0 0 1 0 0 NLRX1 79671 broad.mit.edu 37 11 119054012 119054012 + Missense_Mutation SNP G G A TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr11:119054012G>A ENST00000409109.1 + 10 3379 c.2792G>A c.(2791-2793)cGa>cAa p.R931Q NLRX1_ENST00000409265.4_Intron|NLRX1_ENST00000292199.2_Missense_Mutation_p.R931Q|NLRX1_ENST00000525863.1_Intron|NLRX1_ENST00000409991.1_Missense_Mutation_p.R931Q|NLRX1_ENST00000469103.2_3'UTR Q86UT6 NLRX1_HUMAN NLR family member X1 931 Required for the repression of MAVS- induced interferon signaling. innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production mitochondrial outer membrane ATP binding cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 22 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.7e-05) CGGGTTCAGCGACACCTTGAG 0.612000 23 83 0 0 1 0 0 UNC5B 219699 broad.mit.edu 37 10 73046445 73046445 + Splice_Site SNP G G A TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr10:73046445G>A ENST00000335350.6 + 5 968 c.e5-1 UNC5B_ENST00000373192.4_Splice_Site NM_170744.4 NP_734465.2 Q8IZJ1 UNC5B_HUMAN unc-5 homolog B (C. elegans) apoptosis|axon guidance|regulation of apoptosis integral to membrane breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4) 49 CACTCTTGCAGGTGGAATGGC 0.582000 7 160 0 0 1 0 0 KIF11 3832 broad.mit.edu 37 10 94405303 94405303 + Silent SNP G G A TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr10:94405303G>A ENST00000260731.3 + 18 2541 c.2451G>A c.(2449-2451)caG>caA p.Q817Q NM_004523.3 NP_004514.2 P52732 KIF11_HUMAN kinesin family member 11 817 blood coagulation|cell division|microtubule-based movement|spindle assembly involved in mitosis chromatin remodeling complex|cytosol|kinesin complex|microtubule|spindle pole ATP binding|microtubule motor activity|protein kinase binding breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 AGACTGAACAGAGATGTGAAT 0.353000 20 77 0 0 1 0 0 HM13 81502 broad.mit.edu 37 20 30155980 30155980 + Silent SNP G G A TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr20:30155980G>A ENST00000335574.5 + 12 1258 c.1134G>A c.(1132-1134)caG>caA p.Q378Q HM13_ENST00000376127.3_Intron|HM13_ENST00000492709.1_Intron|HM13_ENST00000398174.3_Silent_p.Q378Q|HM13-AS1_ENST00000412178.1_RNA|HM13_ENST00000340852.5_Intron NM_178580.1 NP_848695.1 Q8TCT9 HM13_HUMAN histocompatibility (minor) 13 374 membrane protein proteolysis cell surface|endoplasmic reticulum membrane|integral to membrane|plasma membrane aspartic-type endopeptidase activity|protein binding breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1) 12 all_cancers(5;3.44e-05)|Lung NSC(7;4.38e-06)|all_lung(7;7.65e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198) all cancers(5;0.000479)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264) CCATGCAGCAGAAGCTAGCTG 0.701000 7 29 0 0 1 0 0 TRIML1 339976 broad.mit.edu 37 4 189060730 189060730 + Silent SNP G G C TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr4:189060730G>C ENST00000332517.3 + 1 158 c.18G>C c.(16-18)ctG>ctC p.L6L NM_178556.3 NP_848651.2 Q8N9V2 TRIML_HUMAN tripartite motif family-like 1 6 multicellular organismal development ligase activity|zinc ion binding NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 60 all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062) OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156) CAGCAGATCTGATGGAGAACC 0.507000 29 127 0 0 1 0 0 TTC16 158248 broad.mit.edu 37 9 130488558 130488558 + Missense_Mutation SNP C C T TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr9:130488558C>T ENST00000373289.3 + 10 1380 c.1300C>T c.(1300-1302)Cgg>Tgg p.R434W TTC16_ENST00000393748.4_3'UTR|TTC16_ENST00000489226.1_3'UTR NM_144965.1 NP_659402.1 Q8NEE8 TTC16_HUMAN tetratricopeptide repeat domain 16 434 binding central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1) 22 CACGGCCATCCGGCACAACCC 0.607000 31 41 0 0 1 0 0 PPP1R3A 5506 broad.mit.edu 37 7 113522114 113522114 + Missense_Mutation SNP C C T TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr7:113522114C>T ENST00000284601.3 - 3 1014 c.946G>A c.(946-948)Gaa>Aaa p.E316K NM_002711.3 NP_002702.2 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory subunit 3A 316 glycogen metabolic process integral to membrane NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2) 121 AATTCTTTTTCATTATGTTCA 0.373000 28 100 0 0 1 0 0 DLEC1 9940 broad.mit.edu 37 3 38158095 38158095 + Silent SNP C C G TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr3:38158095C>G ENST00000308059.6 + 28 4029 c.4008C>G c.(4006-4008)ctC>ctG p.L1336L DLEC1_ENST00000452631.2_Silent_p.L1339L|DLEC1_ENST00000346219.3_Silent_p.L1336L Q9Y238 DLEC1_HUMAN deleted in lung and esophageal cancer 1 1336 negative regulation of cell proliferation cytoplasm NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 51 KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827) GCTGCCTCCTCTGGTCCCCAG 0.632000 25 108 0 0 1 0 0 COL6A3 1293 broad.mit.edu 37 2 238256999 238256999 + Missense_Mutation SNP C C T TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr2:238256999C>T ENST00000295550.4 - 30 7411 c.6959G>A c.(6958-6960)gGa>gAa p.G2320E COL6A3_ENST00000353578.4_Missense_Mutation_p.G2114E|COL6A3_ENST00000347401.3_Missense_Mutation_p.G2119E|COL6A3_ENST00000346358.4_Missense_Mutation_p.G2120E|COL6A3_ENST00000472056.1_Missense_Mutation_p.G1713E|COL6A3_ENST00000409809.1_Missense_Mutation_p.G2114E NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 2320 Collagen-like 5.|Triple-helical region. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) TACCTTTGGTCCTGGGTATCC 0.363000 36 169 0 0 1 0 0 GFOD2 81577 broad.mit.edu 37 16 67709387 67709387 + Missense_Mutation SNP C C G TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr16:67709387C>G ENST00000268797.7 - 3 1174 c.829G>C c.(829-831)Gag>Cag p.E277Q GFOD2_ENST00000602377.1_5'UTR NM_030819.3 NP_110446.3 Q3B7J2 GFOD2_HUMAN glucose-fructose oxidoreductase domain containing 2 277 proteinaceous extracellular matrix binding|oxidoreductase activity breast(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 19 Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0151)|Epithelial(162;0.0505)|all cancers(182;0.242) AGCAGCTCCTCTTGCGTGGCA 0.637000 23 53 0 0 1 0 0 CIC 23152 broad.mit.edu 37 19 42793500 42793500 + Missense_Mutation SNP G G A TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr19:42793500G>A ENST00000572681.2 + 9 4097 c.4029G>A c.(4027-4029)atG>atA p.M1343I CIC_ENST00000575354.2_Missense_Mutation_p.M434I|CIC_ENST00000160740.3_Missense_Mutation_p.M434I Q96RK0 CIC_HUMAN capicua transcriptional repressor 434 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 82 Prostate(69;0.00682) GTGAGGACATGACGAGTGATG 0.632000 """Mis, F, S""" oligodendroglioma 12 35 0 0 1 0 0 STAM2 10254 broad.mit.edu 37 2 152992035 152992035 + Missense_Mutation SNP C C T TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr2:152992035C>T ENST00000263904.4 - 8 1136 c.787G>A c.(787-789)Gag>Aag p.E263K NM_005843.4 NP_005834.4 O75886 STAM2_HUMAN signal transducing adaptor molecule (SH3 domain and ITAM motif) 2 263 cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway cytosol|early endosome membrane protein binding endometrium(3)|large_intestine(4)|lung(8)|ovary(1) 16 BRCA - Breast invasive adenocarcinoma(221;0.22) GCCTCAGTCTCTATGTTTAAA 0.318000 50 126 0 0 1 0 0 APOL5 80831 broad.mit.edu 37 22 36124944 36124944 + Silent SNP G G A TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr22:36124944G>A ENST00000249044.2 + 4 1301 c.1301G>A c.(1300-1302)tGa>tAa p.*434* NM_030642.1 NP_085145.1 Q9BWW9 APOL5_HUMAN apolipoprotein L, 5 0 lipid metabolic process|lipid transport|lipoprotein metabolic process cytoplasm|extracellular region high-density lipoprotein particle binding|lipid binding|protein binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1) 19 CACCGACAATGAGAAGAGGTA 0.602000 9 31 0 0 1 0 0 HRASLS 57110 broad.mit.edu 37 3 192973554 192973554 + Missense_Mutation SNP T T G rs137964301 TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr3:192973554T>G ENST00000264735.2 + 2 524 c.430T>G c.(430-432)Tac>Gac p.Y144D HRASLS_ENST00000602513.1_Missense_Mutation_p.Y39D NM_020386.4 NP_065119.2 Q9HDD0 HRSL1_HUMAN HRAS-like suppressor 39 breast(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2) 10 all_cancers(143;9.1e-09)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06) GBM - Glioblastoma multiforme(46;0.000159) GGGTGATGGTTACGTTATCAA 0.483000 53 184 0 0 1 0 0 SETX 23064 broad.mit.edu 37 9 135204702 135204702 + Silent SNP C C T TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr9:135204702C>T ENST00000372169.2 - 10 2465 c.2283G>A c.(2281-2283)tcG>tcA p.S761S SETX_ENST00000224140.5_Silent_p.S761S|SETX_ENST00000393220.1_Silent_p.S761S Q7Z333 SETX_HUMAN senataxin 761 cell death|double-strand break repair|RNA processing cytoplasm|nucleolus|nucleoplasm ATP binding|DNA helicase activity breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171) AATCTTCATTCGATGTGGACA 0.368000 5 238 0 0 1 0 0 STARD13 90627 broad.mit.edu 37 13 33760037 33760037 + Silent SNP C C A TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr13:33760037C>A ENST00000255486.4 - 1 179 c.123G>T c.(121-123)gtG>gtT p.V41V STARD13_ENST00000336934.5_Intron|STARD13_ENST00000487412.1_Intron|STARD13_ENST00000399365.3_Intron NM_178007.2 NP_821075.1 Q9Y3M8 STA13_HUMAN StAR-related lipid transfer (START) domain containing 13 910 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|lipid particle|mitochondrial membrane GTPase activator activity|protein binding breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1) 40 all_epithelial(80;0.155) Lung SC(185;0.0367) all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143) ATGTGTGGTTCACTCTGCTTT 0.517000 17 71 6.94344e-10 7.18015e-10 1 1 0 ZNF513 130557 broad.mit.edu 37 2 27600565 27600565 + Missense_Mutation SNP C C A TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr2:27600565C>A ENST00000323703.6 - 4 1671 c.1473G>T c.(1471-1473)caG>caT p.Q491H ZNF513_ENST00000407879.1_Missense_Mutation_p.Q429H NM_144631.5 NP_653232.3 Q8N8E2 ZN513_HUMAN zinc finger protein 513 491 regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception nucleus transcription regulatory region DNA binding|zinc ion binding endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2) 17 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CATGCACCTTCTGGTGGCGCT 0.647000 32 143 6.02846e-25 6.60951e-25 1 1 0 PCNT 5116 broad.mit.edu 37 21 47848407 47848407 + Silent SNP G G A TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr21:47848407G>A ENST00000359568.5 + 35 7700 c.7593G>A c.(7591-7593)acG>acA p.T2531T PCNT_ENST00000480896.1_3'UTR NM_006031.5 NP_006022.3 O95613 PCNT_HUMAN pericentrin 2531 cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 104 Breast(49;0.112) TGCGCATGACGCACCTGCAGA 0.672000 14 32 0 0 1 0 0 GRIA2 2891 broad.mit.edu 37 4 158255200 158255200 + Silent SNP C C A TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr4:158255200C>A ENST00000296526.7 + 9 1519 c.1194C>A c.(1192-1194)acC>acA p.T398T GRIA2_ENST00000393815.2_Silent_p.T351T|GRIA2_ENST00000449365.1_Silent_p.T351T|GRIA2_ENST00000264426.9_Silent_p.T398T|GRIA2_ENST00000507898.1_Silent_p.T351T NM_000826.3 NP_000817.2 P42262 GRIA2_HUMAN glutamate receptor, ionotropic, AMPA 2 398 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.0294) L-Glutamic Acid(DB00142) TGGTTGTTACCCTTACTGAGC 0.403000 35 149 3.38236e-24 3.69353e-24 1 1 0 PTH1R 5745 broad.mit.edu 37 3 46939346 46939346 + Splice_Site SNP G G A TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr3:46939346G>A ENST00000449590.1 + 6 518 c.313_splice c.e6-1 p.G105_splice PTH1R_ENST00000430002.2_Splice_Site_p.G105_splice|PTH1R_ENST00000418619.1_Splice_Site_p.G105_splice|PTH1R_ENST00000490109.1_3'UTR|PTH1R_ENST00000313049.5_Splice_Site_p.G105_splice NM_000316.2 NP_000307.1 Q03431 PTH1R_HUMAN parathyroid hormone 1 receptor 105 cytoplasm|integral to plasma membrane|nucleus parathyroid hormone receptor activity|peptide hormone binding|protein self-association breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2) 19 TGGGCACAGGGCGCCCCTGTC 0.557000 9 23 0 0 1 0 0 FLNB 2317 broad.mit.edu 37 3 58139360 58139360 + Missense_Mutation SNP G G A TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr3:58139360G>A ENST00000295956.4 + 39 6791 c.6626G>A c.(6625-6627)gGa>gAa p.G2209E FLNB_ENST00000429972.2_Missense_Mutation_p.G2198E|FLNB_ENST00000490882.1_Missense_Mutation_p.G2240E|FLNB_ENST00000358537.3_Missense_Mutation_p.G2185E|FLNB_ENST00000357272.4_3'UTR|FLNB_ENST00000348383.5_Missense_Mutation_p.G2168E|FLNB_ENST00000419752.2_Missense_Mutation_p.G2029E|FLNB_ENST00000493452.1_Missense_Mutation_p.G2016E NM_001457.3 NP_001448.2 O75369 FLNB_HUMAN filamin B, beta 2209 Interaction with FLNA 1.|Interaction with INPPL1. actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction cell cortex|integral to membrane|nucleus|sarcomere actin binding NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5) 120 BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898) GGAGAAGCGGGAGTCCCAGGT 0.602000 9 31 0 0 1 0 0 DHX36 170506 broad.mit.edu 37 3 154022616 154022616 + Missense_Mutation SNP C C G TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr3:154022616C>G ENST00000496811.1 - 8 1194 c.1114G>C c.(1114-1116)Gaa>Caa p.E372Q DHX36_ENST00000544526.1_Missense_Mutation_p.E372Q|DHX36_ENST00000308361.6_Missense_Mutation_p.E372Q|DHX36_ENST00000329463.5_Missense_Mutation_p.E372Q NM_020865.2 NP_065916.2 Q9H2U1 DHX36_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 36 372 Helicase ATP-binding. cytoplasm|nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1) 35 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) GAAAACTTTTCTGCATTCAAT 0.279000 26 129 0 0 1 0 0 FANCF 2188 broad.mit.edu 37 11 22646608 22646608 + Missense_Mutation SNP G G T TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr11:22646608G>T ENST00000327470.3 - 1 779 c.749C>A c.(748-750)gCc>gAc p.A250D NM_022725.3 NP_073562.1 Q9NPI8 FANCF_HUMAN Fanconi anemia, complementation group F 250 DNA repair nucleoplasm protein binding kidney(3)|large_intestine(3)|lung(6)|skin(1) 13 GCGACAAAAGGCAGCAAAGAC 0.577000 """N, F""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia OREG0020844 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 49 114 5.34276e-22 5.81104e-22 1 1 0 KIF11 3832 broad.mit.edu 37 10 94405326 94405326 + Missense_Mutation SNP G G C TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr10:94405326G>C ENST00000260731.3 + 18 2564 c.2474G>C c.(2473-2475)aGa>aCa p.R825T NM_004523.3 NP_004514.2 P52732 KIF11_HUMAN kinesin family member 11 825 blood coagulation|cell division|microtubule-based movement|spindle assembly involved in mitosis chromatin remodeling complex|cytosol|kinesin complex|microtubule|spindle pole ATP binding|microtubule motor activity|protein kinase binding breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 CTGAACACAAGAACAGTTTAT 0.353000 22 64 0 0 1 0 0 ABCB11 8647 broad.mit.edu 37 2 169791937 169791937 + Splice_Site SNP T T C TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr2:169791937T>C ENST00000263817.6 - 23 2939 c.e23-2 NM_003742.2 NP_003733.2 O95342 ABCBB_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 11 bile acid biosynthetic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1) 57 Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016) ATTTGTAATCTGAAGATTGAA 0.453000 56 198 0 0 1 0 0 RNF217-AS1 7955 broad.mit.edu 37 6 125232130 125232130 + RNA SNP G G C TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr6:125232130G>C ENST00000439075.1 - 0 2615 NR_026876.1 CCATTTTTTAGAATAAAAGAA 0.308000 12 45 0 0 1 0 0 TRAF3IP1 26146 broad.mit.edu 37 2 239307468 239307468 + Missense_Mutation SNP G G T TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr2:239307468G>T ENST00000373327.4 + 17 2206 c.1984G>T c.(1984-1986)Gac>Tac p.D662Y TRAF3IP1_ENST00000391994.2_Missense_Mutation_p.D662Y|TRAF3IP1_ENST00000391993.3_Missense_Mutation_p.D596Y NM_015650.3 NP_056465.2 Q8TDR0 MIPT3_HUMAN TNF receptor-associated factor 3 interacting protein 1 662 DISC1-interaction domain. cytoplasm|cytoskeleton protein binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(2) 23 all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182) Epithelial(121;9.92e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.85e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.01e-07)|BRCA - Breast invasive adenocarcinoma(100;7.72e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0184) AGACCAGCAAGACAAGATCTG 0.473000 57 64 2.82306e-37 3.12023e-37 1 1 0 RNF213 57674 broad.mit.edu 37 17 78247078 78247078 + Missense_Mutation SNP G G A TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr17:78247078G>A ENST00000582970.1 + 3 279 c.136G>A c.(136-138)Gag>Aag p.E46K RNF213_ENST00000508628.2_Missense_Mutation_p.E46K|RNF213_ENST00000319921.4_Missense_Mutation_p.E46K|RNF213_ENST00000456466.1_Missense_Mutation_p.E46K NM_001256071.1 NP_001243000.1 Q9HCF4 ALO17_HUMAN ring finger protein 213 46 NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 130 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) GTCGGCCTCGGAGGGTGAAAT 0.547000 21 80 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228403320 228403320 + Missense_Mutation SNP G G A TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr1:228403320G>A ENST00000570156.2 + 6 1959 c.1885G>A c.(1885-1887)Gag>Aag p.E629K OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.E629K|OBSCN_ENST00000422127.1_Missense_Mutation_p.E629K NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 629 Ig-like 6. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) AGAGGGTGGCGAGGTCACTTT 0.662000 9 11 0 0 1 0 0 EDNRA 1909 broad.mit.edu 37 4 148463720 148463720 + Missense_Mutation SNP C C G TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr4:148463720C>G ENST00000324300.5 + 8 1749 c.1234C>G c.(1234-1236)Caa>Gaa p.Q412E EDNRA_ENST00000339690.5_3'UTR|EDNRA_ENST00000506066.1_Missense_Mutation_p.Q303E|EDNRA_ENST00000503721.1_3'UTR|EDNRA_ENST00000358556.4_Missense_Mutation_p.Q303E|EDNRA_ENST00000511804.1_Missense_Mutation_p.Q187E NM_001957.3 NP_001948.1 P25101 EDNRA_HUMAN endothelin receptor type A 412 activation of adenylate cyclase activity|artery smooth muscle contraction|cell proliferation|glucose transport|respiratory gaseous exchange integral to plasma membrane endothelin-A receptor activity|phosphatidylinositol phospholipase C activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1) 17 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.154) Bosentan(DB00559) GAACCACGATCAAAACAACCA 0.517000 16 70 0 0 1 0 0 HUWE1 10075 broad.mit.edu 37 X 53560365 53560365 + Missense_Mutation SNP G G C TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chrX:53560365G>C ENST00000342160.3 - 83 13487 c.13030C>G c.(13030-13032)Cag>Gag p.Q4344E HUWE1_ENST00000262854.6_Missense_Mutation_p.Q4344E Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase 4344 HECT. base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 153 AGATCCAGCTGATTAAAACTA 0.512000 5 24 0 0 1 0 0 TGM4 7047 broad.mit.edu 37 3 44945403 44945403 + Missense_Mutation SNP G G C TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr3:44945403G>C ENST00000296125.4 + 9 1067 c.999G>C c.(997-999)tgG>tgC p.W333C NM_003241.3 NP_003232.2 P49221 TGM4_HUMAN transglutaminase 4 333 peptide cross-linking|protein polyamination acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1) 38 BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686) L-Glutamine(DB00130) CGGATGCCTGGATGAAGCGAC 0.607000 37 186 0 0 1 0 0 COL20A1 57642 broad.mit.edu 37 20 61929272 61929272 + Silent SNP C C T TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr20:61929272C>T ENST00000422202.1 + 2 161 c.93C>T c.(91-93)ctC>ctT p.L31L COL20A1_ENST00000326996.6_Silent_p.L31L|COL20A1_ENST00000358894.6_Silent_p.L31L|COL20A1_ENST00000435874.1_Silent_p.L31L Q9P218 COKA1_HUMAN collagen, type XX, alpha 1 31 Fibronectin type-III 1. cell adhesion collagen|extracellular space structural molecule activity NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2) 36 all_cancers(38;1.39e-10) CAAGCGGTCTCCTGAGGCTGG 0.617000 6 27 0 0 1 0 0 RPL11 6135 broad.mit.edu 37 1 24019119 24019119 + Silent SNP G G A TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr1:24019119G>A ENST00000374550.3 + 2 72 c.27G>A c.(25-27)gaG>gaA p.E9E RPL11_ENST00000482370.1_3'UTR NM_000975.3|NM_001199802.1 NP_000966.2|NP_001186731.1 P62913 RL11_HUMAN ribosomal protein L11 9 endocrine pancreas development|protein localization to nucleus|protein targeting|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|nucleolus protein binding|rRNA binding|structural constituent of ribosome central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2) 6 Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.13e-24)|Colorectal(126;5.06e-08)|COAD - Colon adenocarcinoma(152;2.92e-06)|GBM - Glioblastoma multiforme(114;4.4e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|KIRC - Kidney renal clear cell carcinoma(1967;0.00322)|STAD - Stomach adenocarcinoma(196;0.0124)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0837)|LUSC - Lung squamous cell carcinoma(448;0.185) GTGAAAAGGAGAACCCCATGC 0.522000 28 111 0 0 1 0 0 CHSY3 337876 broad.mit.edu 37 5 129520070 129520070 + Missense_Mutation SNP G G A rs140992502 TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr5:129520070G>A ENST00000305031.4 + 3 1593 c.1235G>A c.(1234-1236)cGc>cAc p.R412H CHSY3_ENST00000507545.1_3'UTR NM_175856.4 NP_787052.3 Q70JA7 CHSS3_HUMAN chondroitin sulfate synthase 3 412 Golgi cisterna membrane|integral to membrane glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1) 28 all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.136) ATGCTCAGCCGCAAAATTTCT 0.478000 21 78 0 0 1 0 0 CLIP2 7461 broad.mit.edu 37 7 73752876 73752876 + Missense_Mutation SNP G G T TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr7:73752876G>T ENST00000223398.6 + 3 547 c.220G>T c.(220-222)Gac>Tac p.D74Y CLIP2_ENST00000361545.5_Missense_Mutation_p.D74Y|CLIP2_ENST00000395060.1_Missense_Mutation_p.D74Y NM_003388.4 NP_003379.3 Q9UDT6 CLIP2_HUMAN CAP-GLY domain containing linker protein 2 74 microtubule associated complex breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3) 30 AGTGGGGGATGACTTCCTGGG 0.677000 4 14 0.00909568 0.00916281 1 1 0 PRSS23 11098 broad.mit.edu 37 11 86519137 86519137 + Nonsense_Mutation SNP C C G TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr11:86519137C>G ENST00000280258.5 + 2 877 c.452C>G c.(451-453)tCa>tGa p.S151* PRSS23_ENST00000441050.1_Nonsense_Mutation_p.S119*|PRSS23_ENST00000533902.2_Intron NM_007173.4 NP_009104.1 O95084 PRS23_HUMAN protease, serine, 23 151 proteolysis extracellular region|nucleus serine-type endopeptidase activity central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 18 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) TACCCTTTCTCAACATCAGTG 0.512000 25 89 0 0 1 0 0 TMEM255A 55026 broad.mit.edu 37 X 119427904 119427904 + Silent SNP G G A TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chrX:119427904G>A ENST00000371369.4 - 3 430 c.204C>T c.(202-204)ctC>ctT p.L68L TMEM255A_ENST00000309720.5_Silent_p.L68L|TMEM255A_ENST00000440464.1_Silent_p.L68L NM_001104544.1 NP_001098014.1 transmembrane protein 255A ATCCAAAGCCGAGCTGCAAAG 0.403000 28 92 0 0 1 0 0 CTSD 1509 broad.mit.edu 37 11 1780271 1780271 + Missense_Mutation SNP C C G TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr11:1780271C>G ENST00000236671.2 - 4 531 c.399G>C c.(397-399)aaG>aaC p.K133N RP11-295K3.1_ENST00000427721.1_Missense_Mutation_p.R4T NM_001909.4 NP_001900.1 P07339 CATD_HUMAN cathepsin D 133 cell death|proteolysis extracellular space|lysosome|melanosome aspartic-type endopeptidase activity endometrium(1)|large_intestine(4)|lung(8) 13 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) AGGTACCATTCTTCACGTAGG 0.642000 95 168 0 0 1 0 0 DIXDC1 85458 broad.mit.edu 37 11 111864234 111864234 + Silent SNP G G A TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr11:111864234G>A ENST00000440460.2 + 14 1581 c.1284G>A c.(1282-1284)caG>caA p.Q428Q DIXDC1_ENST00000389821.4_3'UTR|DIXDC1_ENST00000315253.5_Silent_p.Q217Q NM_001037954.2 NP_001033043.1 Q155Q3 DIXC1_HUMAN DIX domain containing 1 429 multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway cytosol|focal adhesion actin binding|gamma-tubulin binding|signal transducer activity cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1) 17 all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548) AGCTGGGGCAGAAGGATCGCC 0.483000 15 59 0 0 1 0 0 ABCD1 215 broad.mit.edu 37 X 152991459 152991459 + Silent SNP C C T TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chrX:152991459C>T ENST00000218104.3 + 1 1137 c.738C>T c.(736-738)atC>atT p.I246I ABCD1_ENST00000370129.4_Silent_p.I61I NM_000033.3 NP_000024.2 P33897 ABCD1_HUMAN ATP-binding cassette, sub-family D (ALD), member 1 246 ABC transmembrane type-1. fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization cytosol|integral to peroxisomal membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2) 18 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CCTCGGCCATCGCCGGCCTCG 0.706000 10 28 0 0 1 0 0 OR2T1 26696 broad.mit.edu 37 1 248570073 248570073 + Missense_Mutation SNP C C A TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr1:248570073C>A ENST00000366474.1 + 1 778 c.778C>A c.(778-780)Cct>Act p.P260T NM_030904.1 NP_112166.1 O43869 OR2T1_HUMAN olfactory receptor, family 2, subfamily T, member 1 260 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 39 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GCTGCTGATTCCTTTCTCTGT 0.507000 24 111 5.35356e-11 5.57833e-11 1 1 0 XIRP2 129446 broad.mit.edu 37 2 167760256 167760256 + Missense_Mutation SNP G G T rs140208720 TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr2:167760256G>T ENST00000409195.1 + 2 353 c.264G>T c.(262-264)agG>agT p.R88S XIRP2_ENST00000409728.1_Missense_Mutation_p.R88S|XIRP2_ENST00000409043.1_Missense_Mutation_p.R88S|XIRP2_ENST00000295237.9_Missense_Mutation_p.R88S|XIRP2_ENST00000420519.1_Missense_Mutation_p.R88S|XIRP2_ENST00000409756.2_Missense_Mutation_p.R88S NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 0 actin cytoskeleton organization cell junction actin binding p.R88R(2) NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 ACAACACCAGGGAATATGGTC 0.512000 20 57 3.51602e-12 3.69182e-12 1 1 0 ZKSCAN5 23660 broad.mit.edu 37 7 99129384 99129384 + Missense_Mutation SNP G G A TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr7:99129384G>A ENST00000394170.2 + 7 2283 c.2032G>A c.(2032-2034)Gaa>Aaa p.E678K ZKSCAN5_ENST00000451158.1_Missense_Mutation_p.E678K|ZKSCAN5_ENST00000326775.5_Missense_Mutation_p.E678K NM_014569.3 NP_055384.1 Q9Y2L8 ZKSC5_HUMAN zinc finger with KRAB and SCAN domains 5 678 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 21 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) TAGCCTAATTGAACATCAGGT 0.443000 34 125 0 0 1 0 0 GP9 2815 broad.mit.edu 37 3 128781086 128781086 + Frame_Shift_Del DEL G G - TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr3:128781086delG ENST00000307395.4 + 3 726 c.504delG c.(502-504)ctfs p.L169fs NM_000174.3 NP_000165.1 P14770 GPIX_HUMAN glycoprotein IX (platelet) 169 blood coagulation, intrinsic pathway|cell adhesion|platelet activation integral to plasma membrane protein binding NS(1)|central_nervous_system(1)|lung(4) 6 Quinine(DB00468) TGGCTGGCCTGCTGTGTGCCA 0.721 2 4 --- --- --- --- KDM1B 221656 broad.mit.edu 37 6 18163094 18163094 + Frame_Shift_Del DEL T T - TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr6:18163094delT ENST00000388870.2 + 5 485 c.244delT c.(244-246)ggfs p.W82fs KDM1B_ENST00000546309.2_Intron|KDM1B_ENST00000397244.1_Frame_Shift_Del_p.W82fs|KDM1B_ENST00000297792.5_Frame_Shift_Del_p.W82fs Q8NB78 KDM1B_HUMAN lysine (K)-specific demethylase 1B 82 multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1) 25 CACCTCCCGATGGTATCATCT 0.378 27 107 --- --- --- --- CNTNAP3B 728577 broad.mit.edu 37 9 43844265 43844265 + Frame_Shift_Del DEL G G - TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr9:43844265delG ENST00000377564.3 + 10 1992 c.1599delG c.(1597-1599)gcfs p.A533fs NM_001201380.1 NP_001188309.1 Q96NU0 CNT3B_HUMAN contactin associated protein-like 3B 533 Laminin G-like 2. cell adhesion|signal transduction integral to membrane receptor binding central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3) 10 AGCAGGGGGCGCTGGGGAGTT 0.542 3 6 --- --- --- --- MYOF 26509 broad.mit.edu 37 10 95159223 95159233 + Frame_Shift_Del DEL CCTTTACTGTC CCTTTACTGTC - TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr10:95159223_95159233delCCTTTACTGTC ENST00000371501.4 - 13 1259_1269 c.1137_1147delGACAGTAAAGG c.(1135-1149)caaafs p.QTVKE379fs MYOF_ENST00000358334.5_Frame_Shift_Del_p.QTVKE379fs|MYOF_ENST00000359263.4_Frame_Shift_Del_p.QTVKE379fs|MYOF_ENST00000371489.1_Frame_Shift_Del_p.QTVKE379fs|MYOF_ENST00000371502.4_Frame_Shift_Del_p.QTVKE379fs Q9NZM1 MYOF_HUMAN myoferlin 379 C2 3. blood circulation|muscle contraction|plasma membrane repair caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane phospholipid binding|protein binding NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 CCAAATATTTCCTTTACTGTCTGTGAGAAGG 0.341 9 61 --- --- --- --- RP11-252A24.2 0 broad.mit.edu 37 16 74372914 74372915 + RNA INS - - T rs67181940 TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr16:74372914_74372915insT ENST00000429810.2 - 0 1404 AACGTAGtttgttttttttttt 0.436 2 4 --- --- --- --- RP11-1094M14.11 0 broad.mit.edu 37 17 33900514 33900515 + RNA INS - - A TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7098cee0-5b96-4279-83ab-a469bdf77237 c47cb327-1204-4ba6-9525-36f5f5113599 g.chr17:33900514_33900515insA ENST00000592381.1 + 0 382 gaccctgtcttaaaaaaaaaaa 0.411 2 4 --- --- --- ---