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 RAPGEF2 9693 broad.mit.edu 37 4 160277129 160277129 + Silent SNP C C G TCGA-55-8090-01A-11D-2238-08 TCGA-55-8090-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b5f1b6-b226-4d2c-84be-d8911f6bba62 d9cc8f37-db50-498a-9ec9-5ba1761befd6 g.chr4:160277129C>G ENST00000264431.4 + 23 4712 c.4293C>G c.(4291-4293)gcC>gcG p.A1431A NM_014247.2 NP_055062.1 Q9Y4G8 RPGF2_HUMAN Rap guanine nucleotide exchange factor (GEF) 2 1431 cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction integral to plasma membrane|intracellular calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 70 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.0817) ACAACGTGGCCCTTCAGAGAT 0.612000 5 28 0 0 1 0 0 CTPS1 1503 broad.mit.edu 37 1 41475253 41475253 + Silent SNP C C T TCGA-55-8090-01A-11D-2238-08 TCGA-55-8090-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b5f1b6-b226-4d2c-84be-d8911f6bba62 d9cc8f37-db50-498a-9ec9-5ba1761befd6 g.chr1:41475253C>T ENST00000372621.4 + 17 2191 c.1683C>T c.(1681-1683)ctC>ctT p.L561L CTPS1_ENST00000372616.1_Silent_p.L561L|CTPS1_ENST00000541520.1_Silent_p.L330L NM_001905.2 NP_001896.2 P17812 PYRG1_HUMAN CTP synthase 1 561 CTP biosynthetic process|glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|response to drug cytosol ATP binding|CTP synthase activity|protein binding endometrium(3)|lung(10) 13 L-Glutamine(DB00130) GCTGCAGGCTCTCACCCAGGT 0.537000 14 110 0 0 1 0 0 NKX3-2 579 broad.mit.edu 37 4 13546026 13546026 + Missense_Mutation SNP C C T TCGA-55-8090-01A-11D-2238-08 TCGA-55-8090-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b5f1b6-b226-4d2c-84be-d8911f6bba62 d9cc8f37-db50-498a-9ec9-5ba1761befd6 g.chr4:13546026C>T ENST00000382438.5 - 1 648 c.13G>A c.(13-15)Ggc>Agc p.G5S NM_001189.3 NP_001180.1 P78367 NKX32_HUMAN NK3 homeobox 2 5 negative regulation of chondrocyte differentiation|transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|large_intestine(1)|lung(4)|prostate(1) 7 GTGTTGGCGCCGCGCACAGCC 0.771000 5 8 0 0 1 0 0 CCDC146 57639 broad.mit.edu 37 7 76871034 76871034 + Missense_Mutation SNP T T A TCGA-55-8090-01A-11D-2238-08 TCGA-55-8090-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b5f1b6-b226-4d2c-84be-d8911f6bba62 d9cc8f37-db50-498a-9ec9-5ba1761befd6 g.chr7:76871034T>A ENST00000285871.4 + 4 393 c.266T>A c.(265-267)cTa>cAa p.L89Q CCDC146_ENST00000431197.1_5'UTR NM_020879.2 NP_065930.2 Q8IYE0 CC146_HUMAN coiled-coil domain containing 146 89 breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2) 34 all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205) GTCCAACTGCTACAGAATGCC 0.473000 20 57 0 0 1 0 0 NEDD4L 23327 broad.mit.edu 37 18 55998078 55998078 + Missense_Mutation SNP T T C TCGA-55-8090-01A-11D-2238-08 TCGA-55-8090-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b5f1b6-b226-4d2c-84be-d8911f6bba62 d9cc8f37-db50-498a-9ec9-5ba1761befd6 g.chr18:55998078T>C ENST00000456986.1 + 11 1159 c.559T>C c.(559-561)Tca>Cca p.S187P NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000435432.2_Missense_Mutation_p.S187P|NEDD4L_ENST00000586263.1_Missense_Mutation_p.S300P|NEDD4L_ENST00000256832.7_Missense_Mutation_p.S187P|NEDD4L_ENST00000382850.4_Missense_Mutation_p.S308P|NEDD4L_ENST00000431212.2_Missense_Mutation_p.S187P|NEDD4L_ENST00000357895.5_Missense_Mutation_p.S300P|NEDD4L_ENST00000256830.9_Missense_Mutation_p.S308P|NEDD4L_ENST00000400345.3_Missense_Mutation_p.S308P|NEDD4L_ENST00000456173.2_Missense_Mutation_p.S187P|NEDD4L_ENST00000356462.6_Missense_Mutation_p.S308P NM_001144964.1 NP_001138436.1 Q96PU5 NED4L_HUMAN neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase 308 cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis cytoplasm protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4) 37 TCAGGAGCTGTCAGAGGAACT 0.532000 27 42 0 0 1 0 0 CRHBP 1393 broad.mit.edu 37 5 76264684 76264684 + Missense_Mutation SNP G G T TCGA-55-8090-01A-11D-2238-08 TCGA-55-8090-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b5f1b6-b226-4d2c-84be-d8911f6bba62 d9cc8f37-db50-498a-9ec9-5ba1761befd6 g.chr5:76264684G>T ENST00000274368.4 + 7 1365 c.943G>T c.(943-945)Ggg>Tgg p.G315W CRHBP_ENST00000514258.1_Intron NM_001882.3 NP_001873.2 P24387 CRHBP_HUMAN corticotropin releasing hormone binding protein 315 female pregnancy|learning or memory|signal transduction soluble fraction kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2) 16 all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11) OV - Ovarian serous cystadenocarcinoma(54;2.17e-51)|Epithelial(54;8.79e-46)|all cancers(79;2.49e-41) AAACAGTATCGGGGAATTCTG 0.438000 15 47 6.49762e-13 8.34498e-13 1 1 0 GRID2 2895 broad.mit.edu 37 4 94344000 94344000 + Missense_Mutation SNP G G A TCGA-55-8090-01A-11D-2238-08 TCGA-55-8090-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b5f1b6-b226-4d2c-84be-d8911f6bba62 d9cc8f37-db50-498a-9ec9-5ba1761befd6 g.chr4:94344000G>A ENST00000282020.4 + 10 1684 c.1426G>A c.(1426-1428)Gat>Aat p.D476N GRID2_ENST00000510992.1_Missense_Mutation_p.D381N NM_001510.2 NP_001501.2 O43424 GRID2_HUMAN glutamate receptor, ionotropic, delta 2 476 glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) TGATGTTTTGGATGCCTTATC 0.418000 4 47 0 0 1 0 0 SAMD9L 219285 broad.mit.edu 37 7 92761099 92761099 + Missense_Mutation SNP T T C TCGA-55-8090-01A-11D-2238-08 TCGA-55-8090-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b5f1b6-b226-4d2c-84be-d8911f6bba62 d9cc8f37-db50-498a-9ec9-5ba1761befd6 g.chr7:92761099T>C ENST00000318238.4 - 5 5402 c.4186A>G c.(4186-4188)Aac>Gac p.N1396D SAMD9L_ENST00000437805.1_Missense_Mutation_p.N1396D|SAMD9L_ENST00000411955.1_Missense_Mutation_p.N1396D NM_152703.2 NP_689916.2 Q8IVG5 SAM9L_HUMAN sterile alpha motif domain containing 9-like 1396 central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 88 all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989) STAD - Stomach adenocarcinoma(171;0.000302) AACTTGGAGTTGGGCTTTAGA 0.378000 54 139 0 0 1 0 0 MIR1185-2 100302209 broad.mit.edu 37 14 101510597 101510597 + RNA SNP G G T TCGA-55-8090-01A-11D-2238-08 TCGA-55-8090-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b5f1b6-b226-4d2c-84be-d8911f6bba62 d9cc8f37-db50-498a-9ec9-5ba1761befd6 g.chr14:101510597G>T ENST00000408687.1 + 0 63 NR_031571.1 ATATACAGGGGGAGACTCTCA 0.502000 13 47 2.32078e-09 2.7892e-09 1 1 0 KIF13B 23303 broad.mit.edu 37 8 29018290 29018290 + Missense_Mutation SNP G G A TCGA-55-8090-01A-11D-2238-08 TCGA-55-8090-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b5f1b6-b226-4d2c-84be-d8911f6bba62 d9cc8f37-db50-498a-9ec9-5ba1761befd6 g.chr8:29018290G>A ENST00000524189.1 - 13 1402 c.1364C>T c.(1363-1365)gCt>gTt p.A455V KIF13B_ENST00000521515.1_Missense_Mutation_p.A455V NM_015254.3 NP_056069.2 Q9NQT8 KI13B_HUMAN kinesin family member 13B 455 microtubule-based movement|protein targeting|signal transduction|T cell activation cytoplasm|microtubule ATP binding|microtubule motor activity|protein kinase binding endometrium(6)|kidney(1)|lung(20)|urinary_tract(1) 28 Ovarian(32;0.000536) KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181) AGCTGGGTCAGCATTCAGATT 0.388000 3 46 0 0 1 0 0 DCP1B 196513 broad.mit.edu 37 12 2062350 2062350 + Missense_Mutation SNP C C G TCGA-55-8090-01A-11D-2238-08 TCGA-55-8090-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b5f1b6-b226-4d2c-84be-d8911f6bba62 d9cc8f37-db50-498a-9ec9-5ba1761befd6 g.chr12:2062350C>G ENST00000280665.6 - 7 835 c.756G>C c.(754-756)caG>caC p.Q252H DCP1B_ENST00000540622.1_Missense_Mutation_p.Q126H|DCP1B_ENST00000541700.1_5'UTR|DCP1B_ENST00000397173.4_Missense_Mutation_p.Q150H NM_152640.3 NP_689853.3 Q8IZD4 DCP1B_HUMAN decapping mRNA 1B 252 Poly-Gln. exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytosol|nucleus hydrolase activity|protein binding p.Q252H(8) NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1) 24 OV - Ovarian serous cystadenocarcinoma(31;0.00193) gctgctgctgctgGTGGAGAG 0.552000 3 39 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 113702222 113702222 + Missense_Mutation SNP C C G TCGA-55-8090-01A-11D-2238-08 TCGA-55-8090-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b5f1b6-b226-4d2c-84be-d8911f6bba62 d9cc8f37-db50-498a-9ec9-5ba1761befd6 g.chr8:113702222C>G ENST00000297405.5 - 14 2274 c.2030G>C c.(2029-2031)gGc>gCc p.G677A CSMD3_ENST00000455883.2_Missense_Mutation_p.G573A|CSMD3_ENST00000352409.3_Missense_Mutation_p.G677A|CSMD3_ENST00000343508.3_Missense_Mutation_p.G637A NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 677 Sushi 3. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 AAATCCATCGCCTTCTCTAAT 0.373000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 49 173 0 0 1 0 0 NOS1AP 9722 broad.mit.edu 37 1 162336986 162336986 + Missense_Mutation SNP G G T TCGA-55-8090-01A-11D-2238-08 TCGA-55-8090-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b5f1b6-b226-4d2c-84be-d8911f6bba62 d9cc8f37-db50-498a-9ec9-5ba1761befd6 g.chr1:162336986G>T ENST00000493151.1 + 2 2732 c.365G>T c.(364-366)aGc>aTc p.S122I RP11-565P22.6_ENST00000431696.1_Missense_Mutation_p.S103I|NOS1AP_ENST00000454693.1_3'UTR|NOS1AP_ENST00000530878.1_Missense_Mutation_p.S412I|NOS1AP_ENST00000361897.5_Missense_Mutation_p.S417I NM_001126060.1 NP_001119532.2 O75052 CAPON_HUMAN nitric oxide synthase 1 (neuronal) adaptor protein 417 PID. regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity nitric-oxide synthase binding|PDZ domain binding NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2) 32 all_hematologic(112;0.203) BRCA - Breast invasive adenocarcinoma(70;0.0537) CCTGCGGGCAGCCCCTTAGGT 0.701000 43 49 1.47857e-17 2.08272e-17 1 1 0 PRG4 10216 broad.mit.edu 37 1 186276981 186276981 + Silent SNP A A G TCGA-55-8090-01A-11D-2238-08 TCGA-55-8090-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b5f1b6-b226-4d2c-84be-d8911f6bba62 d9cc8f37-db50-498a-9ec9-5ba1761befd6 g.chr1:186276981A>G ENST00000445192.2 + 7 2175 c.2130A>G c.(2128-2130)aaA>aaG p.K710K PRG4_ENST00000367483.4_Silent_p.K669K|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_Silent_p.K667K|PRG4_ENST00000367485.4_Silent_p.K617K NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 710 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 CTACCCCTAAAGGGACTGCTC 0.582000 5 140 0 0 1 0 0 TGM2 7052 broad.mit.edu 37 20 36759493 36759493 + Splice_Site SNP A A T TCGA-55-8090-01A-11D-2238-08 TCGA-55-8090-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b5f1b6-b226-4d2c-84be-d8911f6bba62 d9cc8f37-db50-498a-9ec9-5ba1761befd6 g.chr20:36759493A>T ENST00000361475.2 - 12 2087 c.e12+1 TGM2_ENST00000536724.1_Splice_Site|TGM2_ENST00000536701.1_Splice_Site NM_004613.2|NM_198951.1 NP_004604.2|NP_945189.1 P21980 TGM2_HUMAN transglutaminase 2 apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Myeloproliferative disorder(115;0.00878) L-Glutamine(DB00130) GCCAGCACTTACATCTCCACC 0.627000 15 76 0 0 1 0 0 CT47A6 728062 broad.mit.edu 37 X 120094385 120094385 + Missense_Mutation SNP G G C TCGA-55-8090-01A-11D-2238-08 TCGA-55-8090-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b5f1b6-b226-4d2c-84be-d8911f6bba62 d9cc8f37-db50-498a-9ec9-5ba1761befd6 g.chrX:120094385G>C ENST00000443600.2 - 1 952 c.698C>G c.(697-699)cCa>cGa p.P233R CT47A5_ENST00000419194.2_Intron NM_001080141.1 NP_001073610.1 Q5JQC4 CT47A_HUMAN cancer/testis antigen family 47, member A6 233 large_intestine(1)|lung(4) 5 TTCTGTGGCTGGTTCCTCTGC 0.687000 4 9 0 0 1 0 0 RBM10 8241 broad.mit.edu 37 X 47040923 47040923 + Nonsense_Mutation SNP G G T TCGA-55-8090-01A-11D-2238-08 TCGA-55-8090-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b5f1b6-b226-4d2c-84be-d8911f6bba62 d9cc8f37-db50-498a-9ec9-5ba1761befd6 g.chrX:47040923G>T ENST00000377604.3 + 14 2195 c.1453G>T c.(1453-1455)Gag>Tag p.E485* RBM10_ENST00000329236.7_Nonsense_Mutation_p.E407*|RBM10_ENST00000468791.1_Intron|RBM10_ENST00000345781.6_Nonsense_Mutation_p.E408* NM_001204467.1|NM_001204468.1|NM_005676.4 NP_001191396.1|NP_001191397.1|NP_005667.2 P98175 RBM10_HUMAN RNA binding motif protein 10 485 mRNA processing|RNA splicing chromatin remodeling complex nucleotide binding|RNA binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 48 GGCCTCCCTAGAGCCTGGGGC 0.632000 15 8 8.00594e-06 8.73982e-06 1 1 0 FLT1 2321 broad.mit.edu 37 13 28897003 28897003 + Missense_Mutation SNP G G T rs145985203 TCGA-55-8090-01A-11D-2238-08 TCGA-55-8090-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b5f1b6-b226-4d2c-84be-d8911f6bba62 d9cc8f37-db50-498a-9ec9-5ba1761befd6 g.chr13:28897003G>T ENST00000282397.4 - 21 3128 c.2877C>A c.(2875-2877)agC>agA p.S959R FLT1_ENST00000540678.1_Missense_Mutation_p.S177R NM_002019.4 NP_002010.2 P17948 VGFR1_HUMAN fms-related tyrosine kinase 1 959 Protein kinase. cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway extracellular space|Golgi apparatus|integral to plasma membrane|nucleus ATP binding|growth factor binding|vascular endothelial growth factor receptor activity NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 115 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262)|Breast(139;0.188) Colorectal(13;0.000674) all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207) Sunitinib(DB01268) TGCTGGTGACGCTATCTAGTC 0.478000 31 78 1.99505e-19 2.84078e-19 1 1 0 CCDC88A 55704 broad.mit.edu 37 2 55615934 55615934 + Nonsense_Mutation SNP G G A TCGA-55-8090-01A-11D-2238-08 TCGA-55-8090-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b5f1b6-b226-4d2c-84be-d8911f6bba62 d9cc8f37-db50-498a-9ec9-5ba1761befd6 g.chr2:55615934G>A ENST00000436346.1 - 3 1094 c.253C>T c.(253-255)Cag>Tag p.Q85* CCDC88A_ENST00000263630.8_Nonsense_Mutation_p.Q85*|CCDC88A_ENST00000336838.6_Nonsense_Mutation_p.Q85*|CCDC88A_ENST00000413716.2_Nonsense_Mutation_p.Q85* NM_001135597.1|NM_001254943.1 NP_001129069.1|NP_001241872.1 Q3V6T2 GRDN_HUMAN coiled-coil domain containing 88A 85 activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1) 69 AATTTTATCTGTCTCACCAAA 0.289000 31 80 0 0 1 0 0 UGT1A3 54659 broad.mit.edu 37 2 234638622 234638622 + Missense_Mutation SNP A A G TCGA-55-8090-01A-11D-2238-08 TCGA-55-8090-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b5f1b6-b226-4d2c-84be-d8911f6bba62 d9cc8f37-db50-498a-9ec9-5ba1761befd6 g.chr2:234638622A>G ENST00000482026.1 + 1 869 c.850A>G c.(850-852)Agg>Ggg p.R284G UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A5_ENST00000373414.3_Intron NM_019093.2 NP_061966.1 breast(2)|endometrium(7)|kidney(18)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|urinary_tract(1) 46 Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128) Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599) CTGTGCCAACAGGAAGCCACT 0.438000 3 158 0 0 1 0 0 SMC1B 27127 broad.mit.edu 37 22 45795221 45795221 + Silent SNP G G A TCGA-55-8090-01A-11D-2238-08 TCGA-55-8090-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b5f1b6-b226-4d2c-84be-d8911f6bba62 d9cc8f37-db50-498a-9ec9-5ba1761befd6 g.chr22:45795221G>A ENST00000357450.4 - 6 866 c.867C>T c.(865-867)acC>acT p.T289T SMC1B_ENST00000404354.3_Silent_p.T289T NM_148674.3 NP_683515.3 Q8NDV3 SMC1B_HUMAN structural maintenance of chromosomes 1B 289 chromosome organization|meiosis chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus ATP binding breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 37 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0182) GATTTAAAAGGGTTTCAACCG 0.323000 13 37 0 0 1 0 0 ANKRD17 26057 broad.mit.edu 37 4 74019646 74019646 + Silent SNP C C A TCGA-55-8090-01A-11D-2238-08 TCGA-55-8090-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b5f1b6-b226-4d2c-84be-d8911f6bba62 d9cc8f37-db50-498a-9ec9-5ba1761befd6 g.chr4:74019646C>A ENST00000358602.4 - 6 1301 c.1185G>T c.(1183-1185)acG>acT p.T395T ANKRD17_ENST00000509867.2_Silent_p.T282T|ANKRD17_ENST00000514252.1_5'UTR|ANKRD17_ENST00000330838.6_Silent_p.T395T NM_032217.3 NP_115593.3 O75179 ANR17_HUMAN ankyrin repeat domain 17 395 interspecies interaction between organisms cytoplasm|nucleus RNA binding NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3) 96 Breast(15;0.000295) Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) CATTAGAATGCGTATTAATGC 0.363000 4 150 0.217242 0.217242 1 1 0 CDKL5 6792 broad.mit.edu 37 X 18622571 18622571 + Silent SNP G G T TCGA-55-8090-01A-11D-2238-08 TCGA-55-8090-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b5f1b6-b226-4d2c-84be-d8911f6bba62 d9cc8f37-db50-498a-9ec9-5ba1761befd6 g.chrX:18622571G>T ENST00000379989.3 + 13 1812 c.1527G>T c.(1525-1527)gcG>gcT p.A509A CDKL5_ENST00000463994.1_3'UTR|CDKL5_ENST00000379996.3_Silent_p.A509A NM_001037343.1 NP_001032420.1 O76039 CDKL5_HUMAN cyclin-dependent kinase-like 5 509 neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation dendrite cytoplasm|dendritic growth cone|nucleus ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1) 44 Hepatocellular(33;0.183) CCCAAATTGCGGAGCCCAGTA 0.547000 73 68 2.14232e-31 3.15331e-31 1 1 0 PTPRG 5793 broad.mit.edu 37 3 62262672 62262672 + Silent SNP A A C TCGA-55-8090-01A-11D-2238-08 TCGA-55-8090-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b5f1b6-b226-4d2c-84be-d8911f6bba62 d9cc8f37-db50-498a-9ec9-5ba1761befd6 g.chr3:62262672A>C ENST00000474889.1 + 25 3962 c.3585A>C c.(3583-3585)gcA>gcC p.A1195A PTPRG-AS1_ENST00000495542.1_RNA|PTPRG-AS1_ENST00000462497.1_RNA|PTPRG-AS1_ENST00000475371.1_RNA|PTPRG-AS1_ENST00000479018.1_RNA|PTPRG-AS1_ENST00000474795.1_RNA|PTPRG-AS1_ENST00000466893.1_RNA|PTPRG_ENST00000295874.10_Silent_p.A1166A|PTPRG-AS1_ENST00000490916.1_RNA NM_002841.3 NP_002832.3 P23470 PTPRG_HUMAN protein tyrosine phosphatase, receptor type, G 1195 Tyrosine-protein phosphatase 2. transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane identical protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065) TGGGTCTTGCACCATTGCCTG 0.368000 12 50 0 0 1 0 0 FOXP1 27086 broad.mit.edu 37 3 71026123 71026123 + Missense_Mutation SNP G G A TCGA-55-8090-01A-11D-2238-08 TCGA-55-8090-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b5f1b6-b226-4d2c-84be-d8911f6bba62 d9cc8f37-db50-498a-9ec9-5ba1761befd6 g.chr3:71026123G>A ENST00000318789.4 - 17 2024 c.1499C>T c.(1498-1500)gCt>gTt p.A500V FOXP1_ENST00000498215.1_Missense_Mutation_p.A500V|FOXP1_ENST00000484350.1_Missense_Mutation_p.A424V|FOXP1_ENST00000468577.1_Missense_Mutation_p.A500V|FOXP1_ENST00000493089.1_Missense_Mutation_p.A499V|FOXP1_ENST00000491238.1_Missense_Mutation_p.A502V|FOXP1_ENST00000475937.1_Missense_Mutation_p.A500V NM_001244810.1|NM_001244813.1|NM_032682.5 NP_001231739.1|NP_001231742.1|NP_116071.2 Q9H334 FOXP1_HUMAN forkhead box P1 500 cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209) BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05) TCGGAAGTAAGCAAACATTCG 0.413000 T PAX5 ALL 9 78 0 0 1 0 0 ADRA1D 146 broad.mit.edu 37 20 4229135 4229135 + Missense_Mutation SNP T T C TCGA-55-8090-01A-11D-2238-08 TCGA-55-8090-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b5f1b6-b226-4d2c-84be-d8911f6bba62 d9cc8f37-db50-498a-9ec9-5ba1761befd6 g.chr20:4229135T>C ENST00000379453.4 - 1 586 c.470A>G c.(469-471)gAg>gGg p.E157G NM_000678.3 NP_000669.1 P25100 ADA1D_HUMAN adrenoceptor alpha 1D 157 cell proliferation|cell-cell signaling|DNA metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|multicellular organismal development|positive regulation of cell proliferation integral to plasma membrane alpha1-adrenergic receptor activity endometrium(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 14 Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Methotrimeprazine(DB01403)|Norepinephrine(DB00368)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162) GCCCAGAACCTCCATGGTGGC 0.647000 9 11 0 0 1 0 0 MSL3 10943 broad.mit.edu 37 X 11790366 11790366 + Missense_Mutation SNP G G A TCGA-55-8090-01A-11D-2238-08 TCGA-55-8090-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b5f1b6-b226-4d2c-84be-d8911f6bba62 d9cc8f37-db50-498a-9ec9-5ba1761befd6 g.chrX:11790366G>A ENST00000380693.3 + 10 1512 c.875G>A c.(874-876)cGa>cAa p.R292Q MSL3_ENST00000361672.2_Missense_Mutation_p.R309Q|MSL3_ENST00000312196.4_Missense_Mutation_p.R458Q|MSL3_ENST00000398527.2_Missense_Mutation_p.R446Q NM_006800.3 NP_006791.2 Q8N5Y2 MS3L1_HUMAN male-specific lethal 3 homolog (Drosophila) 458 histone H4-K16 acetylation|multicellular organismal development|transcription from RNA polymerase II promoter MSL complex DNA binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1) 19 CATTTGCTGCGATTGTTTGGT 0.453000 71 37 0 0 1 0 0 KLHL14 57565 broad.mit.edu 37 18 30260434 30260434 + Missense_Mutation SNP G G T TCGA-55-8090-01A-11D-2238-08 TCGA-55-8090-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b5f1b6-b226-4d2c-84be-d8911f6bba62 d9cc8f37-db50-498a-9ec9-5ba1761befd6 g.chr18:30260434G>T ENST00000359358.4 - 6 1805 c.1367C>A c.(1366-1368)tCt>tAt p.S456Y NM_020805.1 NP_065856.1 Q9P2G3 KLH14_HUMAN kelch-like family member 14 456 cytosol|endoplasmic reticulum membrane breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2) 31 CTGTGGCAAAGAGGACACATA 0.453000 17 113 0.00121646 0.00125478 1 1 0 SLC6A14 11254 broad.mit.edu 37 X 115574910 115574910 + Missense_Mutation SNP G G A TCGA-55-8090-01A-11D-2238-08 TCGA-55-8090-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b5f1b6-b226-4d2c-84be-d8911f6bba62 d9cc8f37-db50-498a-9ec9-5ba1761befd6 g.chrX:115574910G>A ENST00000371900.4 + 5 696 c.608G>A c.(607-609)gGc>gAc p.G203D NM_007231.3 NP_009162.1 Q9UN76 S6A14_HUMAN solute carrier family 6 (amino acid transporter), member 14 203 cellular amino acid metabolic process|response to toxin integral to membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 23 L-Proline(DB00172) TGCATCAACGGCAGTGAAATT 0.343000 10 74 0 0 1 0 0 BNC1 646 broad.mit.edu 37 15 83933324 83933324 + Missense_Mutation SNP G G A rs150744545 TCGA-55-8090-01A-11D-2238-08 TCGA-55-8090-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b5f1b6-b226-4d2c-84be-d8911f6bba62 d9cc8f37-db50-498a-9ec9-5ba1761befd6 g.chr15:83933324G>A ENST00000345382.2 - 4 764 c.679C>T c.(679-681)Ccc>Tcc p.P227S BNC1_ENST00000569704.1_Missense_Mutation_p.P220S|RP11-382A20.4_ENST00000565495.1_RNA NM_001717.3 NP_001708.3 Q01954 BNC1_HUMAN basonuclin 1 227 epidermis development|positive regulation of cell proliferation cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1) 56 ATACTGCTGGGGTTTCCTTTG 0.493000 22 58 0 0 1 0 0 RRAGD 58528 broad.mit.edu 37 6 90077868 90077868 + Silent SNP C C T TCGA-55-8090-01A-11D-2238-08 TCGA-55-8090-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b5f1b6-b226-4d2c-84be-d8911f6bba62 d9cc8f37-db50-498a-9ec9-5ba1761befd6 g.chr6:90077868C>T ENST00000369415.4 - 7 1386 c.1110G>A c.(1108-1110)gtG>gtA p.V370V RRAGD_ENST00000359203.2_Silent_p.V219V NM_021244.4 NP_067067.1 Q9NQL2 RRAGD_HUMAN Ras-related GTP binding D 370 cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade lysosome|nucleus GTP binding|protein heterodimerization activity breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(2) 15 all_cancers(76;7.01e-07)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00139) BRCA - Breast invasive adenocarcinoma(108;0.0144) CTTTCATTCTCACCTCAAAAA 0.408000 OREG0017566 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 61 0 0 1 0 0 UBBP4 23666 broad.mit.edu 37 17 21731144 21731144 + Missense_Mutation SNP T T G rs149119138 by1000genomes TCGA-55-8090-01A-11D-2238-08 TCGA-55-8090-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b5f1b6-b226-4d2c-84be-d8911f6bba62 d9cc8f37-db50-498a-9ec9-5ba1761befd6 g.chr17:21731144T>G ENST00000584755.1 + 2 843 c.446T>G c.(445-447)cTg>cGg p.L149R UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000578713.1_Missense_Mutation_p.L149R|UBBP4_ENST00000584398.1_3'UTR p.L149R(18) endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 GTCCTGCGTCTGAGAGGTGGT 0.542000 4 117 0 0 1 0 0 OR4C6 219432 broad.mit.edu 37 11 55433392 55433392 + Silent SNP C C T TCGA-55-8090-01A-11D-2238-08 TCGA-55-8090-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b5f1b6-b226-4d2c-84be-d8911f6bba62 d9cc8f37-db50-498a-9ec9-5ba1761befd6 g.chr11:55433392C>T ENST00000314259.3 + 1 779 c.750C>T c.(748-750)gtC>gtT p.V250V NM_001004704.1 NP_001004704.1 Q8NH72 OR4C6_HUMAN olfactory receptor, family 4, subfamily C, member 6 250 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 71 TGTTCTTTGTCCCCTGTATTT 0.502000 26 137 0 0 1 0 0 OSBP2 23762 broad.mit.edu 37 22 31091088 31091088 + Silent SNP G G T TCGA-55-8090-01A-11D-2238-08 TCGA-55-8090-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b5f1b6-b226-4d2c-84be-d8911f6bba62 d9cc8f37-db50-498a-9ec9-5ba1761befd6 g.chr22:31091088G>T ENST00000332585.6 + 1 296 c.192G>T c.(190-192)ccG>ccT p.P64P OSBP2_ENST00000407373.1_Intron|OSBP2_ENST00000446658.2_Silent_p.P64P|OSBP2_ENST00000403222.3_Intron|OSBP2_ENST00000382310.3_Silent_p.P64P NM_030758.3 NP_110385.1 Q969R2 OSBP2_HUMAN oxysterol binding protein 2 64 lipid transport membrane lipid binding breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1) 19 AGCGGGGACCGCTGTCAGAAC 0.711000 5 20 0.000602214 0.000626112 1 1 0 ADAMTS9 56999 broad.mit.edu 37 3 64608232 64608232 + Missense_Mutation SNP A A G TCGA-55-8090-01A-11D-2238-08 TCGA-55-8090-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b5f1b6-b226-4d2c-84be-d8911f6bba62 d9cc8f37-db50-498a-9ec9-5ba1761befd6 g.chr3:64608232A>G ENST00000498707.1 - 17 2762 c.2420T>C c.(2419-2421)cTa>cCa p.L807P ADAMTS9_ENST00000295903.4_Missense_Mutation_p.L779P NM_182920.1 NP_891550.1 Q9P2N4 ATS9_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 9 807 Spacer. glycoprotein catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 100 Lung NSC(201;0.00682) BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221) GTTTCCATTTAGCAAGAATTC 0.393000 22 42 0 0 1 0 0 GRIN2B 2904 broad.mit.edu 37 12 13717356 13717356 + Missense_Mutation SNP C C T TCGA-55-8090-01A-11D-2238-08 TCGA-55-8090-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b5f1b6-b226-4d2c-84be-d8911f6bba62 d9cc8f37-db50-498a-9ec9-5ba1761befd6 g.chr12:13717356C>T ENST00000279593.3 - 13 3025 c.2816G>A c.(2815-2817)cGc>cAc p.R939H NM_000834.3 NP_000825.2 Q13224 NMDE2_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2B 939 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) CGTGAAGCTGCGGCGGTGCTC 0.542000 46 139 0 0 1 0 0 AC015849.16 0 broad.mit.edu 37 17 34236038 34236038 + RNA SNP G G T TCGA-55-8090-01A-11D-2238-08 TCGA-55-8090-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b5f1b6-b226-4d2c-84be-d8911f6bba62 d9cc8f37-db50-498a-9ec9-5ba1761befd6 g.chr17:34236038G>T ENST00000587132.1 - 0 1989 CATCGGGGCTGTAGAAGGGCA 0.498000 12 47 2.61681e-11 3.26479e-11 1 1 0 FNDC7 163479 broad.mit.edu 37 1 109271482 109271482 + Missense_Mutation SNP C C A TCGA-55-8090-01A-11D-2238-08 TCGA-55-8090-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b5f1b6-b226-4d2c-84be-d8911f6bba62 d9cc8f37-db50-498a-9ec9-5ba1761befd6 g.chr1:109271482C>A ENST00000370017.3 + 8 1875 c.1598C>A c.(1597-1599)cCc>cAc p.P533H FNDC7_ENST00000271311.2_Missense_Mutation_p.P534H NM_001144937.1 NP_001138409.1 Q5VTL7 FNDC7_HUMAN fibronectin type III domain containing 7 534 Fibronectin type-III 6. extracellular region breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1) 20 all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728) Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244) CGGAGCCTGCCCAGCTACAGT 0.562000 8 46 0.0692343 0.0697669 1 1 0 UBN1 29855 broad.mit.edu 37 16 4924403 4924403 + Silent SNP C C T TCGA-55-8090-01A-11D-2238-08 TCGA-55-8090-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b5f1b6-b226-4d2c-84be-d8911f6bba62 d9cc8f37-db50-498a-9ec9-5ba1761befd6 g.chr16:4924403C>T ENST00000396658.4 + 14 2695 c.1992C>T c.(1990-1992)gaC>gaT p.D664D UBN1_ENST00000545171.1_Silent_p.D664D|UBN1_ENST00000590769.1_Silent_p.D664D|UBN1_ENST00000262376.6_Silent_p.D664D NM_016936.3 NP_058632.2 Q9NPG3 UBN1_HUMAN ubinuclein 1 664 chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter PML body|tight junction DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38 TGGATGAAGACTTGATCCGCA 0.577000 40 130 0 0 1 0 0 PUM1 9698 broad.mit.edu 37 1 31447621 31447621 + Silent SNP A A G TCGA-55-8090-01A-11D-2238-08 TCGA-55-8090-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b5f1b6-b226-4d2c-84be-d8911f6bba62 d9cc8f37-db50-498a-9ec9-5ba1761befd6 g.chr1:31447621A>G ENST00000373747.3 - 10 1485 c.1386T>C c.(1384-1386)taT>taC p.Y462Y PUM1_ENST00000490546.1_5'UTR|PUM1_ENST00000257075.5_Silent_p.Y461Y|PUM1_ENST00000426105.2_Silent_p.Y461Y|PUM1_ENST00000424085.2_Silent_p.Y219Y|PUM1_ENST00000423018.2_Silent_p.Y365Y|PUM1_ENST00000440538.2_Silent_p.Y462Y|PUM1_ENST00000373741.4_Silent_p.Y497Y|PUM1_ENST00000373742.2_Silent_p.Y402Y NM_001020658.1 NP_001018494.1 Q14671 PUM1_HUMAN pumilio RNA-binding family member 1 461 Ala-rich. cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation cytosol RNA binding breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123) STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681) GAGTAACTCCATAATACTGGT 0.488000 4 23 0 0 1 0 0 RAD51AP2 729475 broad.mit.edu 37 2 17699040 17699040 + Missense_Mutation SNP T T C TCGA-55-8090-01A-11D-2238-08 TCGA-55-8090-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b5f1b6-b226-4d2c-84be-d8911f6bba62 d9cc8f37-db50-498a-9ec9-5ba1761befd6 g.chr2:17699040T>C ENST00000399080.2 - 1 666 c.643A>G c.(643-645)Aac>Gac p.N215D NM_001099218.2 NP_001092688.1 Q09MP3 R51A2_HUMAN RAD51 associated protein 2 215 endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) ACAACACTGTTAGCTTTACAT 0.318000 14 47 0 0 1 0 0 SPINK2 6691 broad.mit.edu 37 4 57686701 57686701 + Splice_Site SNP C C T TCGA-55-8090-01A-11D-2238-08 TCGA-55-8090-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b5f1b6-b226-4d2c-84be-d8911f6bba62 d9cc8f37-db50-498a-9ec9-5ba1761befd6 g.chr4:57686701C>T ENST00000506738.1 - 2 329 c.e2+1 SPINK2_ENST00000248701.4_Splice_Site|SPINK2_ENST00000504762.1_Splice_Site NM_001271718.1 NP_001258647.1 P20155 ISK2_HUMAN serine peptidase inhibitor, Kazal type 2 (acrosin-trypsin inhibitor) extracellular region serine-type endopeptidase inhibitor activity kidney(1)|large_intestine(1)|lung(2) 4 Glioma(25;0.08)|all_neural(26;0.181) TTGCTACTTACCGTTCTATAT 0.413000 15 50 0 0 1 0 0 OR10K1 391109 broad.mit.edu 37 1 158436099 158436099 + Missense_Mutation SNP G G A TCGA-55-8090-01A-11D-2238-08 TCGA-55-8090-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b5f1b6-b226-4d2c-84be-d8911f6bba62 d9cc8f37-db50-498a-9ec9-5ba1761befd6 g.chr1:158436099G>A ENST00000289451.2 + 1 828 c.748G>A c.(748-750)Gtt>Att p.V250I NM_001004473.1 NP_001004473.1 Q8NGX5 O10K1_HUMAN olfactory receptor, family 10, subfamily K, member 1 250 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 27 all_hematologic(112;0.0378) TGTGGTAACTGTTCACTACAG 0.458000 34 55 0 0 1 0 0 DCHS1 8642 broad.mit.edu 37 11 6661629 6661629 + Nonsense_Mutation SNP C C A TCGA-55-8090-01A-11D-2238-08 TCGA-55-8090-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b5f1b6-b226-4d2c-84be-d8911f6bba62 d9cc8f37-db50-498a-9ec9-5ba1761befd6 g.chr11:6661629C>A ENST00000299441.3 - 2 1627 c.1216G>T c.(1216-1218)Gaa>Taa p.E406* NM_003737.2 NP_003728.1 Q96JQ0 PCD16_HUMAN dachsous cadherin-related 1 406 Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 103 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TCTCCACCTTCCAGGGACACA 0.582000 7 18 2.7689e-08 3.23862e-08 1 1 0 LILRB2 10288 broad.mit.edu 37 19 54781435 54781435 + Silent SNP G G T TCGA-55-8090-01A-11D-2238-08 TCGA-55-8090-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b5f1b6-b226-4d2c-84be-d8911f6bba62 d9cc8f37-db50-498a-9ec9-5ba1761befd6 g.chr19:54781435G>T ENST00000391748.1 - 9 1453 c.1326C>A c.(1324-1326)ccC>ccA p.P442P LILRB2_ENST00000391749.4_Silent_p.P443P|LILRB2_ENST00000391746.1_Silent_p.P443P|LILRB2_ENST00000314446.5_Silent_p.P442P|LILRB2_ENST00000434421.1_Silent_p.P327P NM_001278403.1 NP_001265332.1 Q8N423 LIRB2_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 443 cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response integral to plasma membrane|membrane fraction receptor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 44 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) TGGGGGTGAGGGGCTGGTCCT 0.716000 4 8 0.000602214 0.000626112 1 1 0 L3MBTL4 91133 broad.mit.edu 37 18 6243370 6243370 + Missense_Mutation SNP C C A TCGA-55-8090-01A-11D-2238-08 TCGA-55-8090-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b5f1b6-b226-4d2c-84be-d8911f6bba62 d9cc8f37-db50-498a-9ec9-5ba1761befd6 g.chr18:6243370C>A ENST00000400104.3 - 7 583 c.383G>T c.(382-384)tGg>tTg p.W128L L3MBTL4_ENST00000284898.6_Missense_Mutation_p.W128L|L3MBTL4_ENST00000400105.2_Missense_Mutation_p.W128L|L3MBTL4_ENST00000317931.7_Missense_Mutation_p.W128L Q8NA19 LMBL4_HUMAN l(3)mbt-like 4 (Drosophila) 128 chromatin modification nucleus sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 Colorectal(10;0.0249) AGCATTGGTCCAAAAATCATA 0.388000 16 88 1.50039e-11 1.88992e-11 1 1 0 EID1 23741 broad.mit.edu 37 15 49170852 49170852 + Missense_Mutation SNP C C G TCGA-55-8090-01A-11D-2238-08 TCGA-55-8090-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b5f1b6-b226-4d2c-84be-d8911f6bba62 d9cc8f37-db50-498a-9ec9-5ba1761befd6 g.chr15:49170852C>G ENST00000530028.2 + 1 770 c.479C>G c.(478-480)gCt>gGt p.A160G EID1_ENST00000558295.1_Intron|SHC4_ENST00000332408.4_Intron|EID1_ENST00000560490.1_Missense_Mutation_p.A138G NM_014335.2 NP_055150.1 Q9Y6B2 EID1_HUMAN EP300 interacting inhibitor of differentiation 1 160 cell cycle|cell differentiation|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus histone acetyltransferase binding|histone acetyltransferase regulator activity|transcription corepressor activity liver(1)|prostate(1) 2 all_lung(180;0.00455) all cancers(107;2.73e-08)|GBM - Glioblastoma multiforme(94;9.58e-07) GATCAGTTAGCTTTTATCGAA 0.433000 16 32 0 0 1 0 0 DHX9 1660 broad.mit.edu 37 1 182844009 182844009 + Missense_Mutation SNP A A G TCGA-55-8090-01A-11D-2238-08 TCGA-55-8090-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b5f1b6-b226-4d2c-84be-d8911f6bba62 d9cc8f37-db50-498a-9ec9-5ba1761befd6 g.chr1:182844009A>G ENST00000367549.3 + 16 1845 c.1735A>G c.(1735-1737)Att>Gtt p.I579V NM_001357.4 NP_001348.2 Q08211 DHX9_HUMAN DEAH (Asp-Glu-Ala-His) box helicase 9 579 CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 49 GGAAGACTGCATTCAGATGAC 0.388000 50 82 0 0 1 0 0 POU6F2 11281 broad.mit.edu 37 7 39379609 39379609 + Missense_Mutation SNP C C A TCGA-55-8090-01A-11D-2238-08 TCGA-55-8090-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b5f1b6-b226-4d2c-84be-d8911f6bba62 d9cc8f37-db50-498a-9ec9-5ba1761befd6 g.chr7:39379609C>A ENST00000518318.2 + 5 922 c.880C>A c.(880-882)Cta>Ata p.L294I POU6F2_ENST00000559001.1_Missense_Mutation_p.L286I|POU6F2_ENST00000517348.1_3'UTR|POU6F2_ENST00000403058.1_Missense_Mutation_p.L294I P78424 PO6F2_HUMAN POU class 6 homeobox 2 294 Gln-rich. central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 42 ACCCAATCCTCTACAGGTATG 0.602000 31 90 4.11147e-13 5.3327e-13 1 1 0 CCT6P3 643180 broad.mit.edu 37 7 64498882 64498882 + RNA SNP G G T TCGA-55-8090-01A-11D-2238-08 TCGA-55-8090-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b5f1b6-b226-4d2c-84be-d8911f6bba62 d9cc8f37-db50-498a-9ec9-5ba1761befd6 g.chr7:64498882G>T ENST00000426828.1 + 0 145 NR_033416.1 GCGGGACCCCGAGCACCGGGC 0.711000 7 12 8.12818e-05 8.65685e-05 1 1 0 TPTE 7179 broad.mit.edu 37 21 10906991 10906991 + Missense_Mutation SNP G G A TCGA-55-8090-01A-11D-2238-08 TCGA-55-8090-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b5f1b6-b226-4d2c-84be-d8911f6bba62 d9cc8f37-db50-498a-9ec9-5ba1761befd6 g.chr21:10906991G>A ENST00000298232.7 - 23 1883 c.1516C>T c.(1516-1518)Cgg>Tgg p.R506W TPTE_ENST00000342420.5_Missense_Mutation_p.R486W|TPTE_ENST00000361285.4_Missense_Mutation_p.R524W|TPTE_ENST00000415664.2_5'UTR NM_199259.2 NP_954868.1 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 524 C2 tensin-type. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TAAATTCTCCGTGCTTTTTGT 0.353000 5 60 0 0 1 0 0 SMTN 6525 broad.mit.edu 37 22 31484887 31484887 + Missense_Mutation SNP G G T TCGA-55-8090-01A-11D-2238-08 TCGA-55-8090-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b5f1b6-b226-4d2c-84be-d8911f6bba62 d9cc8f37-db50-498a-9ec9-5ba1761befd6 g.chr22:31484887G>T ENST00000333137.7 + 6 621 c.403G>T c.(403-405)Ggg>Tgg p.G135W SMTN_ENST00000358743.1_Missense_Mutation_p.G135W|SMTN_ENST00000347557.2_Missense_Mutation_p.G135W NM_001207018.1|NM_134269.2 NP_001193947.1|NP_599031.1 P53814 SMTN_HUMAN smoothelin 135 muscle organ development|smooth muscle contraction actin cytoskeleton|cytoplasm actin binding|structural constituent of muscle breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3) 25 GTTGTACAGCGGGCGTCCCAA 0.627000 OREG0026472 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 25 64 4.31634e-10 5.23556e-10 1 1 0 FIGNL1 63979 broad.mit.edu 37 7 50514477 50514477 + Missense_Mutation SNP C C A TCGA-55-8090-01A-11D-2238-08 TCGA-55-8090-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b5f1b6-b226-4d2c-84be-d8911f6bba62 d9cc8f37-db50-498a-9ec9-5ba1761befd6 g.chr7:50514477C>A ENST00000419119.1 - 2 2062 c.509G>T c.(508-510)cGa>cTa p.R170L FIGNL1_ENST00000433017.1_Missense_Mutation_p.R170L|FIGNL1_ENST00000356889.4_Missense_Mutation_p.R170L|FIGNL1_ENST00000395556.2_Missense_Mutation_p.R170L Q6PIW4 FIGL1_HUMAN fidgetin-like 1 170 ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle cytoplasm|nucleus ATP binding|magnesium ion binding|nucleoside-triphosphatase activity endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1) 29 Glioma(55;0.08)|all_neural(89;0.245) Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06) GGTCCGGTCTCGATCATGAGC 0.463000 30 158 7.11191e-15 9.70479e-15 1 1 0 NDST3 9348 broad.mit.edu 37 4 119163220 119163220 + Missense_Mutation SNP T T A TCGA-55-8090-01A-11D-2238-08 TCGA-55-8090-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b5f1b6-b226-4d2c-84be-d8911f6bba62 d9cc8f37-db50-498a-9ec9-5ba1761befd6 g.chr4:119163220T>A ENST00000296499.5 + 12 2718 c.2315T>A c.(2314-2316)cTa>cAa p.L772Q NM_004784.2 NP_004775.1 O95803 NDST3_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3 772 Heparan sulfate N-sulfotransferase 3. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 54 GGGCAACAACTAAGAACTGAT 0.299000 33 94 0 0 1 0 0 DARC 2532 broad.mit.edu 37 1 159175656 159175656 + Missense_Mutation SNP C C A TCGA-55-8090-01A-11D-2238-08 TCGA-55-8090-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b5f1b6-b226-4d2c-84be-d8911f6bba62 d9cc8f37-db50-498a-9ec9-5ba1761befd6 g.chr1:159175656C>A ENST00000537147.1 + 3 1270 c.427C>A c.(427-429)Cag>Aag p.Q143K DARC_ENST00000368122.2_Missense_Mutation_p.Q143K|DARC_ENST00000368121.2_Missense_Mutation_p.Q145K Q16570 DUFFY_HUMAN Duffy blood group, atypical chemokine receptor 143 defense response integral to membrane|plasma membrane C-C chemokine binding|chemokine receptor activity large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 8 all_hematologic(112;0.0429) AGCCTTTGCCCAGGCTTTGCT 0.637000 13 16 2.23348e-06 2.45871e-06 1 1 0 ACSM2A 123876 broad.mit.edu 37 16 20477003 20477003 + Silent SNP C C A TCGA-55-8090-01A-11D-2238-08 TCGA-55-8090-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b5f1b6-b226-4d2c-84be-d8911f6bba62 d9cc8f37-db50-498a-9ec9-5ba1761befd6 g.chr16:20477003C>A ENST00000573854.1 + 3 456 c.342C>A c.(340-342)ccC>ccA p.P114P ACSM2A_ENST00000219054.6_Silent_p.P114P|ACSM2A_ENST00000575690.1_Silent_p.P114P|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000536134.1_5'UTR|ACSM2A_ENST00000424070.1_Silent_p.P114P|ACSM2A_ENST00000417235.2_Silent_p.P35P|ACSM2A_ENST00000396104.2_Silent_p.P114P NM_001010845.2 NP_001010845.1 Q08AH3 ACS2A_HUMAN acyl-CoA synthetase medium-chain family member 2A 114 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1) 51 TGGTGCTGCCCCGAGTGCCTG 0.567000 19 54 7.26314e-15 9.70889e-15 1 1 0 BVES 11149 broad.mit.edu 37 6 105572484 105572484 + Missense_Mutation SNP A A G TCGA-55-8090-01A-11D-2238-08 TCGA-55-8090-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b5f1b6-b226-4d2c-84be-d8911f6bba62 d9cc8f37-db50-498a-9ec9-5ba1761befd6 g.chr6:105572484A>G ENST00000314641.5 - 5 802 c.586T>C c.(586-588)Tgt>Cgt p.C196R BVES_ENST00000446408.2_Missense_Mutation_p.C196R|BVES_ENST00000336775.5_Missense_Mutation_p.C196R NM_001199563.1 NP_001186492.1 Q8NE79 POPD1_HUMAN blood vessel epicardial substance 196 epithelial cell-cell adhesion|muscle organ development|positive regulation of locomotion|positive regulation of receptor recycling|regulation of Cdc42 GTPase activity|regulation of cell shape|regulation of Rac GTPase activity|substrate adhesion-dependent cell spreading|vesicle-mediated transport integral to membrane|lateral plasma membrane|tight junction structural molecule activity NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1) 21 all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238) ATAAAGGCACAGGGGTAAATG 0.323000 3 131 0 0 1 0 0 ZNF627 199692 broad.mit.edu 37 19 11728444 11728444 + Missense_Mutation SNP A A G TCGA-55-8090-01A-11D-2238-08 TCGA-55-8090-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b5f1b6-b226-4d2c-84be-d8911f6bba62 d9cc8f37-db50-498a-9ec9-5ba1761befd6 g.chr19:11728444A>G ENST00000361113.5 + 4 1334 c.1126A>G c.(1126-1128)Agt>Ggt p.S376G ZNF627_ENST00000588174.1_3'UTR NM_145295.3 NP_660338.1 Q7L945 ZN627_HUMAN zinc finger protein 627 376 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 14 CAGTTGTTCCAGTTCGTTTCG 0.423000 3 65 0 0 1 0 0 SCAF1 58506 broad.mit.edu 37 19 50161557 50161557 + Silent SNP C C T TCGA-55-8090-01A-11D-2238-08 TCGA-55-8090-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b5f1b6-b226-4d2c-84be-d8911f6bba62 d9cc8f37-db50-498a-9ec9-5ba1761befd6 g.chr19:50161557C>T ENST00000360565.3 + 11 3964 c.3840C>T c.(3838-3840)caC>caT p.H1280H NM_021228.2 NP_067051.2 Q9H7N4 SFR19_HUMAN SR-related CTD-associated factor 1 1280 Necessary for interaction with the CTD domain of POLR2A. mRNA processing|RNA splicing nucleus RNA binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 20 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204) TCCGCAAGCACGGTCGCAAGC 0.692000 8 14 0 0 1 0 0 COL6A3 1293 broad.mit.edu 37 2 238267212 238267212 + Silent SNP A A G TCGA-55-8090-01A-11D-2238-08 TCGA-55-8090-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b5f1b6-b226-4d2c-84be-d8911f6bba62 d9cc8f37-db50-498a-9ec9-5ba1761befd6 g.chr2:238267212A>G ENST00000295550.4 - 21 6875 c.6423T>C c.(6421-6423)ccT>ccC p.P2141P COL6A3_ENST00000409809.1_Silent_p.P1935P|COL6A3_ENST00000472056.1_Silent_p.P1534P|COL6A3_ENST00000353578.4_Silent_p.P1935P|COL6A3_ENST00000347401.3_Silent_p.P1940P|COL6A3_ENST00000346358.4_Silent_p.P1941P NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 2141 Collagen-like 2.|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) TCTCTCCTCGAGGTCCTTTAT 0.413000 22 78 0 0 1 0 0 NELL1 4745 broad.mit.edu 37 11 20869200 20869200 + Missense_Mutation SNP G G T TCGA-55-8090-01A-11D-2238-08 TCGA-55-8090-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b5f1b6-b226-4d2c-84be-d8911f6bba62 d9cc8f37-db50-498a-9ec9-5ba1761befd6 g.chr11:20869200G>T ENST00000298925.5 + 5 644 c.491G>T c.(490-492)aGg>aTg p.R164M NELL1_ENST00000325319.5_Intron|NELL1_ENST00000532434.1_Missense_Mutation_p.R136M|NELL1_ENST00000357134.5_Missense_Mutation_p.R136M Q92832 NELL1_HUMAN NEL-like 1 (chicken) 136 TSP N-terminal. cell adhesion|nervous system development extracellular region calcium ion binding|structural molecule activity NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 70 GGGAAGCCAAGGACAGAGGCA 0.478000 14 42 4.14922e-12 5.27716e-12 1 1 0 UBBP4 23666 broad.mit.edu 37 17 21731270 21731270 + Missense_Mutation SNP T T C TCGA-55-8090-01A-11D-2238-08 TCGA-55-8090-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b5f1b6-b226-4d2c-84be-d8911f6bba62 d9cc8f37-db50-498a-9ec9-5ba1761befd6 g.chr17:21731270T>C ENST00000584755.1 + 2 969 c.572T>C c.(571-573)aTc>aCc p.I191T UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000578713.1_Intron p.I191T(3) endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 ATCCCCCCGATCAGCAGAGGC 0.547000 3 107 0 0 1 0 0 LOC101927079 101927079 broad.mit.edu 37 15 22332492 22332492 + RNA SNP A A C TCGA-55-8090-01A-11D-2238-08 TCGA-55-8090-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b5f1b6-b226-4d2c-84be-d8911f6bba62 d9cc8f37-db50-498a-9ec9-5ba1761befd6 g.chr15:22332492A>C ENST00000558896.1 + 0 299 TATTTCTCTTATTACTATTTT 0.383000 4 239 0 0 1 0 0 TENM4 26011 broad.mit.edu 37 11 78413037 78413037 + Missense_Mutation SNP A A T TCGA-55-8090-01A-11D-2238-08 TCGA-55-8090-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b5f1b6-b226-4d2c-84be-d8911f6bba62 d9cc8f37-db50-498a-9ec9-5ba1761befd6 g.chr11:78413037A>T ENST00000278550.7 - 28 5083 c.4621T>A c.(4621-4623)Tcc>Acc p.S1541T NM_001098816.2 NP_001092286.2 teneurin transmembrane protein 4 ACAGCCAAGGAAGATGGGGTA 0.498000 12 24 0 0 1 0 0 OR51I2 390064 broad.mit.edu 37 11 5475045 5475045 + Missense_Mutation SNP G G T TCGA-55-8090-01A-11D-2238-08 TCGA-55-8090-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b5f1b6-b226-4d2c-84be-d8911f6bba62 d9cc8f37-db50-498a-9ec9-5ba1761befd6 g.chr11:5475045G>T ENST00000341449.2 + 1 408 c.327G>T c.(325-327)atG>atT p.M109I HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron NM_001004754.2 NP_001004754.1 Q9H344 O51I2_HUMAN olfactory receptor, family 51, subfamily I, member 2 109 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 29 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135) TCTTCTCCATGATGGAATCAG 0.483000 36 90 8.73648e-17 1.21753e-16 1 1 0 SSX2IP 117178 broad.mit.edu 37 1 85127998 85127998 + Silent SNP G G A TCGA-55-8090-01A-11D-2238-08 TCGA-55-8090-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b5f1b6-b226-4d2c-84be-d8911f6bba62 d9cc8f37-db50-498a-9ec9-5ba1761befd6 g.chr1:85127998G>A ENST00000437941.2 - 7 1081 c.729C>T c.(727-729)atC>atT p.I243I SSX2IP_ENST00000342203.3_Silent_p.I270I|SSX2IP_ENST00000603677.1_Intron|SSX2IP_ENST00000605755.1_Silent_p.I243I|SSX2IP_ENST00000370612.4_Silent_p.I270I NM_001166295.1|NM_001166417.1 NP_001159767.1|NP_001159889.1 Q9Y2D8 ADIP_HUMAN synovial sarcoma, X breakpoint 2 interacting protein 270 cell adhesion nucleus|protein complex endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|urinary_tract(1) 19 all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173) TTTCCATTAGGATTTGTTTCT 0.323000 14 31 0 0 1 0 0 TUB 7275 broad.mit.edu 37 11 8111703 8111703 + Missense_Mutation SNP C C T TCGA-55-8090-01A-11D-2238-08 TCGA-55-8090-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b5f1b6-b226-4d2c-84be-d8911f6bba62 d9cc8f37-db50-498a-9ec9-5ba1761befd6 g.chr11:8111703C>T ENST00000305253.4 + 4 584 c.343C>T c.(343-345)Cgg>Tgg p.R115W TUB_ENST00000534099.1_Missense_Mutation_p.R66W|TUB_ENST00000299506.2_Missense_Mutation_p.R60W NM_003320.4 NP_003311.2 P50607 TUB_HUMAN tubby bipartite transcription factor 60 phagocytosis|positive regulation of phagocytosis|response to stimulus cytoplasm|extracellular region|nucleus|plasma membrane breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 26 all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17) Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184) ccggagccggcgggcccggcA 0.652000 20 41 0 0 1 0 0 PCNXL2 80003 broad.mit.edu 37 1 233190139 233190139 + Missense_Mutation SNP C C A TCGA-55-8090-01A-11D-2238-08 TCGA-55-8090-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b5f1b6-b226-4d2c-84be-d8911f6bba62 d9cc8f37-db50-498a-9ec9-5ba1761befd6 g.chr1:233190139C>A ENST00000258229.8 - 25 4460 c.4226G>T c.(4225-4227)cGt>cTt p.R1409L PCNXL2_ENST00000344698.2_Missense_Mutation_p.R61L NM_014801.3 NP_055616.3 A6NKB5 PCX2_HUMAN pecanex-like 2 (Drosophila) 1409 integral to membrane NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_cancers(173;0.0347)|Prostate(94;0.137) GTTGCCCCAACGTCCAAGAAC 0.438000 5 35 1.23904e-05 1.34144e-05 1 1 0 FUT8 2530 broad.mit.edu 37 14 66096228 66096228 + Silent SNP A A T TCGA-55-8090-01A-11D-2238-08 TCGA-55-8090-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b5f1b6-b226-4d2c-84be-d8911f6bba62 d9cc8f37-db50-498a-9ec9-5ba1761befd6 g.chr14:66096228A>T ENST00000360689.5 + 6 2228 c.501A>T c.(499-501)ctA>ctT p.L167L FUT8_ENST00000557164.1_Silent_p.L4L|FUT8_ENST00000358307.2_Silent_p.L38L|FUT8_ENST00000394585.1_Silent_p.L167L|FUT8_ENST00000394586.2_Silent_p.L167L NM_004480.4|NM_178155.2 NP_004471.4|NP_835368.1 Q9BYC5 FUT8_HUMAN fucosyltransferase 8 (alpha (1,6) fucosyltransferase) 167 in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine Golgi cisterna membrane|integral to membrane glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2) 22 all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114) TGACGGATCTATACTACCTCA 0.418000 55 108 0 0 1 0 0 SIGLEC6 946 broad.mit.edu 37 19 52034668 52034668 + Missense_Mutation SNP G G A TCGA-55-8090-01A-11D-2238-08 TCGA-55-8090-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b5f1b6-b226-4d2c-84be-d8911f6bba62 d9cc8f37-db50-498a-9ec9-5ba1761befd6 g.chr19:52034668G>A ENST00000346477.3 - 2 241 c.173C>T c.(172-174)cCa>cTa p.P58L SIGLEC6_ENST00000436458.1_Intron|SIGLEC6_ENST00000425629.3_Missense_Mutation_p.P58L|SIGLEC6_ENST00000359982.4_Missense_Mutation_p.P58L|SIGLEC6_ENST00000343300.4_Missense_Mutation_p.P58L|SIGLEC6_ENST00000391797.3_Missense_Mutation_p.P58L NM_198845.4 NP_942142.3 O43699 SIGL6_HUMAN sialic acid binding Ig-like lectin 6 58 Ig-like V-type. cell adhesion|cell-cell signaling cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1) 28 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165) GTACGAGGCTGGAAGGGTAGT 0.607000 13 74 0 0 1 0 0 SEMA5A 9037 broad.mit.edu 37 5 9054287 9054287 + Silent SNP A A T TCGA-55-8090-01A-11D-2238-08 TCGA-55-8090-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b5f1b6-b226-4d2c-84be-d8911f6bba62 d9cc8f37-db50-498a-9ec9-5ba1761befd6 g.chr5:9054287A>T ENST00000382496.5 - 19 3266 c.2601T>A c.(2599-2601)tcT>tcA p.S867S NM_003966.2 NP_003957.2 Q13591 SEM5A_HUMAN sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A 867 TSP type-1 6. cell adhesion|cell-cell signaling integral to membrane|plasma membrane biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 81 GATTGGAGCAAGAGCGGGTCC 0.592000 14 38 0 0 1 0 0 OR10H2 26538 broad.mit.edu 37 19 15839703 15839703 + Missense_Mutation SNP C C A TCGA-55-8090-01A-11D-2238-08 TCGA-55-8090-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b5f1b6-b226-4d2c-84be-d8911f6bba62 d9cc8f37-db50-498a-9ec9-5ba1761befd6 g.chr19:15839703C>A ENST00000305899.3 + 1 870 c.850C>A c.(850-852)Ccc>Acc p.P284T NM_013939.2 NP_039227.1 O60403 O10H2_HUMAN olfactory receptor, family 10, subfamily H, member 2 284 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1) 27 all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074) AGTCCTCACGCCCTTCCTCAG 0.552000 41 54 1.42923e-14 1.8912e-14 1 1 0 CDX4 1046 broad.mit.edu 37 X 72667109 72667109 + Missense_Mutation SNP T T C TCGA-55-8090-01A-11D-2238-08 TCGA-55-8090-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b5f1b6-b226-4d2c-84be-d8911f6bba62 d9cc8f37-db50-498a-9ec9-5ba1761befd6 g.chrX:72667109T>C ENST00000373514.2 + 1 20 c.20T>C c.(19-21)tTg>tCg p.L7S NM_005193.1 NP_005184.1 O14627 CDX4_HUMAN caudal type homeobox 4 7 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1) 18 Renal(35;0.156) AGCTGTCTTTTGGAGAAAGAA 0.602000 23 9 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13917345 13917345 + Silent SNP A A G TCGA-55-8090-01A-11D-2238-08 TCGA-55-8090-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b5f1b6-b226-4d2c-84be-d8911f6bba62 d9cc8f37-db50-498a-9ec9-5ba1761befd6 g.chr5:13917345A>G ENST00000265104.4 - 8 1100 c.996T>C c.(994-996)atT>atC p.I332I NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 332 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) CAGTGATTCGAATATCCATCT 0.383000 Kartagener syndrome 19 54 0 0 1 0 0 TRA2B 6434 broad.mit.edu 37 3 185639873 185639873 + Missense_Mutation SNP C C G TCGA-55-8090-01A-11D-2238-08 TCGA-55-8090-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b5f1b6-b226-4d2c-84be-d8911f6bba62 d9cc8f37-db50-498a-9ec9-5ba1761befd6 g.chr3:185639873C>G ENST00000453386.2 - 5 839 c.564G>C c.(562-564)agG>agC p.R188S TRA2B_ENST00000382191.4_Missense_Mutation_p.R88S NM_004593.2 NP_004584.1 P62995 TRA2B_HUMAN transformer 2 beta homolog (Drosophila) 188 RRM. nuclear mRNA splicing, via spliceosome nucleus nucleotide binding|protein binding|RNA binding breast(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1) 18 CAACTCTGATCCTACGCCCAT 0.368000 5 43 0 0 1 0 0 RRN3P2 653390 broad.mit.edu 37 16 29110458 29110458 + RNA SNP T T C rs151074589 by1000genomes TCGA-55-8090-01A-11D-2238-08 TCGA-55-8090-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b5f1b6-b226-4d2c-84be-d8911f6bba62 d9cc8f37-db50-498a-9ec9-5ba1761befd6 g.chr16:29110458T>C ENST00000564580.1 + 0 1131 p.W375R(25) GAATTTTGAGTGGATAGTGAT 0.328000 6 77 0 0 1 0 0 VPS13D 55187 broad.mit.edu 37 1 12342797 12342797 + Silent SNP A A G TCGA-55-8090-01A-11D-2238-08 TCGA-55-8090-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b5f1b6-b226-4d2c-84be-d8911f6bba62 d9cc8f37-db50-498a-9ec9-5ba1761befd6 g.chr1:12342797A>G ENST00000358136.3 + 21 4768 c.4638A>G c.(4636-4638)ttA>ttG p.L1546L VPS13D_ENST00000356315.4_Silent_p.L1546L NM_015378.2 NP_056193.2 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13 homolog D (S. cerevisiae) 1546 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) AGCAGGTTTTACAAACCCTGG 0.423000 16 95 0 0 1 0 0 TTI1 9675 broad.mit.edu 37 20 36640436 36640436 + Missense_Mutation SNP T T C TCGA-55-8090-01A-11D-2238-08 TCGA-55-8090-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b5f1b6-b226-4d2c-84be-d8911f6bba62 d9cc8f37-db50-498a-9ec9-5ba1761befd6 g.chr20:36640436T>C ENST00000373448.2 - 3 2021 c.1783A>G c.(1783-1785)Atc>Gtc p.I595V TTI1_ENST00000449821.1_Missense_Mutation_p.I595V|TTI1_ENST00000487362.1_5'UTR|TTI1_ENST00000373447.3_Missense_Mutation_p.I595V NM_014657.1 NP_055472.1 O43156 TTI1_HUMAN TELO2 interacting protein 1 595 binding breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3) 47 CCAGACGTGATGGCTTGGAGG 0.448000 51 99 0 0 1 0 0 SBSN 374897 broad.mit.edu 37 19 36018407 36018407 + Silent SNP T T C TCGA-55-8090-01A-11D-2238-08 TCGA-55-8090-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b5f1b6-b226-4d2c-84be-d8911f6bba62 d9cc8f37-db50-498a-9ec9-5ba1761befd6 g.chr19:36018407T>C ENST00000452271.2 - 1 805 c.777A>G c.(775-777)agA>agG p.R259R SBSN_ENST00000518157.1_Intron NM_001166034.1 NP_001159506.1 Q6UWP8 SBSN_HUMAN suprabasin 132 extracellular region large_intestine(5)|lung(6)|ovary(1)|prostate(2) 14 all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) CCTGGCCAAATCTCCCTGCCT 0.627000 3 5 0 0 1 0 0 SULF2 55959 broad.mit.edu 37 20 46365592 46365592 + Silent SNP G G A TCGA-55-8090-01A-11D-2238-08 TCGA-55-8090-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b5f1b6-b226-4d2c-84be-d8911f6bba62 d9cc8f37-db50-498a-9ec9-5ba1761befd6 g.chr20:46365592G>A ENST00000359930.4 - 3 1121 c.270C>T c.(268-270)ccC>ccT p.P90P SULF2_ENST00000478766.1_5'UTR|SULF2_ENST00000361612.4_Silent_p.P90P|SULF2_ENST00000467815.1_Silent_p.P90P|SULF2_ENST00000484875.1_Silent_p.P90P NM_018837.3 NP_061325.1 Q8IWU5 SULF2_HUMAN sulfatase 2 90 bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 AGGAGCGTGAGGGGCAGCACA 0.592000 35 62 0 0 1 0 0 TH 7054 broad.mit.edu 37 11 2191025 2191025 + Missense_Mutation SNP G G T TCGA-55-8090-01A-11D-2238-08 TCGA-55-8090-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b5f1b6-b226-4d2c-84be-d8911f6bba62 d9cc8f37-db50-498a-9ec9-5ba1761befd6 g.chr11:2191025G>T ENST00000381178.1 - 3 278 c.260C>A c.(259-261)gCg>gAg p.A87E TH_ENST00000381175.1_Missense_Mutation_p.A83E|TH_ENST00000352909.3_Missense_Mutation_p.A56E|TH_ENST00000333684.5_Missense_Mutation_p.A60E NM_199292.2 NP_954986.2 P07101 TY3H_HUMAN tyrosine hydroxylase 87 Poly-Ala. dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum protein binding|tyrosine 3-monooxygenase activity NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1) 11 all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416) Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239) BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154) L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360) TGCAGCGGCCGCTGCTGCCAC 0.701000 6 8 0.0215528 0.0218869 1 1 0 PCDHB7 56129 broad.mit.edu 37 5 140553994 140553994 + Silent SNP G G T TCGA-55-8090-01A-11D-2238-08 TCGA-55-8090-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b5f1b6-b226-4d2c-84be-d8911f6bba62 d9cc8f37-db50-498a-9ec9-5ba1761befd6 g.chr5:140553994G>T ENST00000231137.3 + 1 1752 c.1578G>T c.(1576-1578)gcG>gcT p.A526A NM_018940.2 NP_061763.1 Q9Y5E2 PCDB7_HUMAN 526 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.A526A(1) NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCCTGCAGGCGTTCGAGTTCC 0.706000 4 111 0.000602214 0.000626112 1 1 0 ANK1 286 broad.mit.edu 37 8 41553939 41553939 + Nonsense_Mutation SNP C C A TCGA-55-8090-01A-11D-2238-08 TCGA-55-8090-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b5f1b6-b226-4d2c-84be-d8911f6bba62 d9cc8f37-db50-498a-9ec9-5ba1761befd6 g.chr8:41553939C>A ENST00000396942.1 - 26 2985 c.2902G>T c.(2902-2904)Gag>Tag p.E968* ANK1_ENST00000265709.8_Nonsense_Mutation_p.E1009*|ANK1_ENST00000347528.4_Nonsense_Mutation_p.E968*|ANK1_ENST00000396945.1_Nonsense_Mutation_p.E968*|ANK1_ENST00000289734.7_Nonsense_Mutation_p.E968*|ANK1_ENST00000352337.4_Nonsense_Mutation_p.E968*|ANK1_ENST00000379758.2_Nonsense_Mutation_p.E968* P16157 ANK1_HUMAN ankyrin 1, erythrocytic 968 ZU5. axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 122 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) AGGCCCTCCTCCTCGGCCAGT 0.706000 15 72 8.10497e-08 9.31361e-08 1 1 0 SNHG14 104472715 broad.mit.edu 37 15 25463652 25463652 + RNA SNP C C A TCGA-55-8090-01A-11D-2238-08 TCGA-55-8090-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b5f1b6-b226-4d2c-84be-d8911f6bba62 d9cc8f37-db50-498a-9ec9-5ba1761befd6 g.chr15:25463652C>A ENST00000424208.1 + 0 2935 SNHG14_ENST00000453082.2_RNA NR_003305.1 GCTCAGCCATCGGTGCGCTGA 0.592000 16 16 1.3612e-06 1.51117e-06 1 1 0 HCFC2 29915 broad.mit.edu 37 12 104496780 104496780 + Missense_Mutation SNP C C T TCGA-55-8090-01A-11D-2238-08 TCGA-55-8090-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b5f1b6-b226-4d2c-84be-d8911f6bba62 d9cc8f37-db50-498a-9ec9-5ba1761befd6 g.chr12:104496780C>T ENST00000229330.4 + 15 2212 c.2108C>T c.(2107-2109)cCt>cTt p.P703L HCFC2_ENST00000550335.1_3'UTR NM_013320.2 NP_037452.1 Q9Y5Z7 HCFC2_HUMAN host cell factor C2 703 Fibronectin type-III 3. regulation of transcription from RNA polymerase II promoter|viral reproduction cytoplasm|nucleus transcription coactivator activity breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 35 CCAACCTCACCTTCTGGAAAT 0.418000 16 33 0 0 1 0 0 TTK 7272 broad.mit.edu 37 6 80744811 80744811 + Missense_Mutation SNP T T G TCGA-55-8090-01A-11D-2238-08 TCGA-55-8090-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b5f1b6-b226-4d2c-84be-d8911f6bba62 d9cc8f37-db50-498a-9ec9-5ba1761befd6 g.chr6:80744811T>G ENST00000509894.1 + 15 2550 c.1721T>G c.(1720-1722)tTg>tGg p.L574W TTK_ENST00000369798.2_Missense_Mutation_p.L575W|TTK_ENST00000230510.3_Missense_Mutation_p.L574W P33981 TTK_HUMAN TTK protein kinase 575 Protein kinase. mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation spindle ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1) 53 all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2) BRCA - Breast invasive adenocarcinoma(397;0.0321) ATAGCTTATTTGAATAAACTA 0.279000 32 60 0 0 1 0 0 SLC51B 123264 broad.mit.edu 37 15 65345484 65345484 + Silent SNP A A G TCGA-55-8090-01A-11D-2238-08 TCGA-55-8090-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b5f1b6-b226-4d2c-84be-d8911f6bba62 d9cc8f37-db50-498a-9ec9-5ba1761befd6 g.chr15:65345484A>G ENST00000334287.2 + 4 690 c.369A>G c.(367-369)gtA>gtG p.V123V NM_178859.3 NP_849190.2 solute carrier family 51, beta subunit TTCCGGATGTACCAGAAACTG 0.478000 3 92 0 0 1 0 0 FYN 2534 broad.mit.edu 37 6 112015907 112015907 + Splice_Site SNP C C A TCGA-55-8090-01A-11D-2238-08 TCGA-55-8090-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b5f1b6-b226-4d2c-84be-d8911f6bba62 d9cc8f37-db50-498a-9ec9-5ba1761befd6 g.chr6:112015907C>A ENST00000354650.3 - 11 1649 c.1042_splice c.e11-1 p.G348_splice FYN_ENST00000368667.2_Splice_Site_p.G348_splice|FYN_ENST00000229470.5_Splice_Site_p.G296_splice|FYN_ENST00000368678.4_Splice_Site_p.G345_splice|FYN_ENST00000538466.1_Splice_Site_p.G345_splice|FYN_ENST00000356013.2_Splice_Site_p.G293_splice|FYN_ENST00000229471.4_Splice_Site_p.G293_splice|FYN_ENST00000368682.3_Splice_Site_p.G345_splice NM_002037.5 NP_002028.1 P06241 FYN_HUMAN FYN oncogene related to SRC, FGR, YES 348 Protein kinase. axon guidance|calcium ion transport|feeding behavior|interspecies interaction between organisms|intracellular protein kinase cascade|learning|leukocyte migration|platelet activation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction cytosol|endosome|plasma membrane ATP binding|glycoprotein binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(17)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 30 all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211) all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102) Dasatinib(DB01254) CAGTAAACTTCCTATGAACAA 0.348000 14 60 4.3838e-07 4.95067e-07 1 1 0 ZNF92 168374 broad.mit.edu 37 7 64863891 64863891 + Missense_Mutation SNP A A T TCGA-55-8090-01A-11D-2238-08 TCGA-55-8090-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b5f1b6-b226-4d2c-84be-d8911f6bba62 d9cc8f37-db50-498a-9ec9-5ba1761befd6 g.chr7:64863891A>T ENST00000328747.7 + 4 1063 c.864A>T c.(862-864)gaA>gaT p.E288D ZNF92_ENST00000357512.2_Missense_Mutation_p.E256D|ZNF92_ENST00000450302.2_Missense_Mutation_p.E219D|ZNF92_ENST00000431504.1_Missense_Mutation_p.E212D NM_152626.2 NP_689839.1 Q03936 ZNF92_HUMAN zinc finger protein 92 288 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|skin(1)|stomach(1) 13 Lung NSC(55;0.159) ACAAATGTGAAGAATGTGGCA 0.368000 19 45 0 0 1 0 0 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C A rs121913529 TCGA-55-8090-01A-11D-2238-08 TCGA-55-8090-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b5f1b6-b226-4d2c-84be-d8911f6bba62 d9cc8f37-db50-498a-9ec9-5ba1761befd6 g.chr12:25398284C>A ENST00000311936.3 - 2 226 c.35G>T c.(34-36)gGt>gTt p.G12V KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 12 G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) GCCTACGCCACCAGCTCCAAC 0.348000 G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 5 29 8.12818e-05 8.65685e-05 1 1 0 OR2L13 284521 broad.mit.edu 37 1 248263325 248263325 + Silent SNP C C A TCGA-55-8090-01A-11D-2238-08 TCGA-55-8090-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b5f1b6-b226-4d2c-84be-d8911f6bba62 d9cc8f37-db50-498a-9ec9-5ba1761befd6 g.chr1:248263325C>A ENST00000366478.2 + 3 985 c.648C>A c.(646-648)tcC>tcA p.S216S OR2L13_ENST00000358120.2_Silent_p.S216S NM_175911.2 NP_787107.1 Q8N349 OR2LD_HUMAN olfactory receptor, family 2, subfamily L, member 13 216 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity|protein binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 59 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0132) TCACTTCTTCCTGTGGCCGAG 0.408000 11 31 7.03913e-09 8.38296e-09 1 1 0 TRBJ2-6 28623 broad.mit.edu 37 7 142494949 142494949 + RNA SNP G G T TCGA-55-8090-01A-11D-2238-08 TCGA-55-8090-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b5f1b6-b226-4d2c-84be-d8911f6bba62 d9cc8f37-db50-498a-9ec9-5ba1761befd6 g.chr7:142494949G>T ENST00000390418.1 + 0 27 CTGACTTTCGGGGCCGGCAGC 0.736000 19 65 5.45024e-15 7.51559e-15 1 1 0 FZD9 8326 broad.mit.edu 37 7 72849818 72849818 + Missense_Mutation SNP G G A TCGA-55-8090-01A-11D-2238-08 TCGA-55-8090-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b5f1b6-b226-4d2c-84be-d8911f6bba62 d9cc8f37-db50-498a-9ec9-5ba1761befd6 g.chr7:72849818G>A ENST00000344575.3 + 1 1710 c.1481G>A c.(1480-1482)cGg>cAg p.R494Q NM_003508.2 NP_003499.1 O00144 FZD9_HUMAN frizzled family receptor 9 494 B cell differentiation|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|neuroblast proliferation|vasculature development cell surface|filopodium membrane|integral to membrane|perinuclear region of cytoplasm G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|skin(1) 14 Lung NSC(55;0.0659)|all_lung(88;0.152) CCCGGAGGCCGGAGGGACTGC 0.647000 8 38 0 0 1 0 0 FRMD4B 23150 broad.mit.edu 37 3 69230382 69230382 + Missense_Mutation SNP C C A TCGA-55-8090-01A-11D-2238-08 TCGA-55-8090-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b5f1b6-b226-4d2c-84be-d8911f6bba62 d9cc8f37-db50-498a-9ec9-5ba1761befd6 g.chr3:69230382C>A ENST00000542259.1 - 22 2808 c.2357G>T c.(2356-2358)cGg>cTg p.R786L FRMD4B_ENST00000478263.1_Missense_Mutation_p.R492L|FRMD4B_ENST00000398540.3_Missense_Mutation_p.R840L Q9Y2L6 FRM4B_HUMAN FERM domain containing 4B 840 cytoplasm|cytoskeleton binding p.S784fs*53(1) NS(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(2) 19 Lung NSC(201;0.0138)|Prostate(884;0.11) BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182) GGCTGAGGACCGGTAGGAAGG 0.512000 27 35 7.26314e-15 9.70889e-15 1 1 0 CYP4A11 1579 broad.mit.edu 37 1 47400213 47400213 + Missense_Mutation SNP C C T TCGA-55-8090-01A-11D-2238-08 TCGA-55-8090-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b5f1b6-b226-4d2c-84be-d8911f6bba62 d9cc8f37-db50-498a-9ec9-5ba1761befd6 g.chr1:47400213C>T ENST00000310638.4 - 7 840 c.809G>A c.(808-810)aGg>aAg p.R270K CYP4A11_ENST00000457840.2_Silent_p.E114E|CYP4A11_ENST00000371905.1_Missense_Mutation_p.R270K|CYP4A11_ENST00000475477.1_5'UTR|CYP4A11_ENST00000371904.4_Missense_Mutation_p.R271K NM_000778.3 NP_000769.2 Q02928 CP4AB_HUMAN cytochrome P450, family 4, subfamily A, polypeptide 11 270 long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2) 36 NADH(DB00157) TTGAGCCTTCCTCAGTTGGAT 0.532000 23 88 0 0 1 0 0 GRM1 2911 broad.mit.edu 37 6 146351107 146351107 + Missense_Mutation SNP A A T TCGA-55-8090-01A-11D-2238-08 TCGA-55-8090-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b5f1b6-b226-4d2c-84be-d8911f6bba62 d9cc8f37-db50-498a-9ec9-5ba1761befd6 g.chr6:146351107A>T ENST00000392299.2 + 2 924 c.454A>T c.(454-456)Act>Tct p.T152S GRM1_ENST00000507907.1_Missense_Mutation_p.T152S|GRM1_ENST00000492807.2_Missense_Mutation_p.T152S|GRM1_ENST00000355289.4_Missense_Mutation_p.T152S|GRM1_ENST00000361719.2_Missense_Mutation_p.T152S|GRM1_ENST00000282753.1_Missense_Mutation_p.T152S Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 152 synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 126 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) CCCAGGCAGGACTAAGAAGCC 0.562000 30 63 0 0 1 0 0 PDGFRB 5159 broad.mit.edu 37 5 149512387 149512387 + Missense_Mutation SNP G G C TCGA-55-8090-01A-11D-2238-08 TCGA-55-8090-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b5f1b6-b226-4d2c-84be-d8911f6bba62 d9cc8f37-db50-498a-9ec9-5ba1761befd6 g.chr5:149512387G>C ENST00000261799.4 - 7 1522 c.1053C>G c.(1051-1053)ttC>ttG p.F351L NM_002609.3 NP_002600.1 P09619 PGFRB_HUMAN platelet-derived growth factor receptor, beta polypeptide 351 Ig-like C2-type 4. aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1) 75 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) GGTTGTCTTTGAACCACAGGA 0.627000 T """ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP""" """MPD, AML, CMML, CML""" 8 12 0 0 1 0 0 MIR573 693158 broad.mit.edu 37 4 24521863 24521863 + RNA SNP C C G TCGA-55-8090-01A-11D-2238-08 TCGA-55-8090-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b5f1b6-b226-4d2c-84be-d8911f6bba62 d9cc8f37-db50-498a-9ec9-5ba1761befd6 g.chr4:24521863C>G ENST00000384964.1 - 0 50 NR_030299.1 CCAAAGACGACATGAGTAGAT 0.378000 79 173 0 0 1 0 0 SEMA3D 223117 broad.mit.edu 37 7 84642105 84642105 + Silent SNP G G T TCGA-55-8090-01A-11D-2238-08 TCGA-55-8090-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b5f1b6-b226-4d2c-84be-d8911f6bba62 d9cc8f37-db50-498a-9ec9-5ba1761befd6 g.chr7:84642105G>T ENST00000284136.6 - 15 1804 c.1761C>A c.(1759-1761)atC>atA p.I587I SEMA3D_ENST00000484038.1_5'UTR NM_152754.2 NP_689967.2 O95025 SEM3D_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D 587 cell differentiation|nervous system development extracellular region|membrane receptor activity p.I587I(1) NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2) 73 TACTGTCTTCGATGTCCCAGC 0.383000 20 61 2.79863e-10 3.42636e-10 1 1 0 CAV3 859 broad.mit.edu 37 3 8775658 8775658 + Missense_Mutation SNP T T G TCGA-55-8090-01A-11D-2238-08 TCGA-55-8090-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b5f1b6-b226-4d2c-84be-d8911f6bba62 d9cc8f37-db50-498a-9ec9-5ba1761befd6 g.chr3:8775658T>G ENST00000343849.2 + 1 173 c.96T>G c.(94-96)atT>atG p.I32M SSUH2_ENST00000478513.1_Intron|CAV3_ENST00000472766.1_3'UTR|CAV3_ENST00000397368.2_Missense_Mutation_p.I32M NM_001234.4|NM_033337.2 NP_001225.1|NP_203123.1 P56539 CAV3_HUMAN caveolin 3 32 cell growth|elevation of cytosolic calcium ion concentration|muscle organ development|negative regulation of cardiac muscle hypertrophy|negative regulation of cell size|negative regulation of MAP kinase activity|negative regulation of sarcomere organization|positive regulation of microtubule polymerization|regulation of skeletal muscle contraction|regulation of ventricular cardiomyocyte membrane repolarization|T-tubule organization caveola|dystrophin-associated glycoprotein complex|Golgi membrane|neuromuscular junction|T-tubule protein C-terminus binding|protein complex binding|protein complex scaffold|sodium channel regulator activity breast(1)|kidney(2)|large_intestine(4)|lung(3)|prostate(1) 11 CCAAGAACATTAACGAGGACA 0.577000 11 36 0 0 1 0 0 HELZ 9931 broad.mit.edu 37 17 65184456 65184456 + Missense_Mutation SNP T T A TCGA-55-8090-01A-11D-2238-08 TCGA-55-8090-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b5f1b6-b226-4d2c-84be-d8911f6bba62 d9cc8f37-db50-498a-9ec9-5ba1761befd6 g.chr17:65184456T>A ENST00000358691.5 - 12 1307 c.1141A>T c.(1141-1143)Att>Ttt p.I381F HELZ_ENST00000580168.1_Missense_Mutation_p.I381F NM_014877.3 NP_055692.2 helicase with zinc finger NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13) GCTGCATCAATCATTACTCTT 0.353000 40 80 0 0 1 0 0 UNC5C 8633 broad.mit.edu 37 4 96124010 96124010 + Missense_Mutation SNP C C A TCGA-55-8090-01A-11D-2238-08 TCGA-55-8090-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b5f1b6-b226-4d2c-84be-d8911f6bba62 d9cc8f37-db50-498a-9ec9-5ba1761befd6 g.chr4:96124010C>A ENST00000453304.1 - 12 2356 c.2008G>T c.(2008-2010)Gta>Tta p.V670L NM_003728.3 NP_003719.3 O95185 UNC5C_HUMAN unc-5 homolog C (C. elegans) 670 apoptosis|axon guidance|brain development integral to membrane netrin receptor activity NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 55 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;8.72e-10) GAATGTCCTACCAGGGCGTAG 0.602000 33 102 3.09479e-21 4.45513e-21 1 1 0 CAND2 23066 broad.mit.edu 37 3 12856687 12856687 + Missense_Mutation SNP C C G TCGA-55-8090-01A-11D-2238-08 TCGA-55-8090-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b5f1b6-b226-4d2c-84be-d8911f6bba62 d9cc8f37-db50-498a-9ec9-5ba1761befd6 g.chr3:12856687C>G ENST00000456430.2 + 8 1095 c.1054C>G c.(1054-1056)Cgc>Ggc p.R352G CAND2_ENST00000295989.5_Missense_Mutation_p.R259G NM_001162499.1 NP_001155971.1 O75155 CAND2_HUMAN cullin-associated and neddylation-dissociated 2 (putative) 352 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 CTGGAAGGTGCGCCGGGCAGC 0.607000 33 65 0 0 1 0 0 FAP 2191 broad.mit.edu 37 2 163031437 163031437 + Nonsense_Mutation SNP C C A TCGA-55-8090-01A-11D-2238-08 TCGA-55-8090-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b5f1b6-b226-4d2c-84be-d8911f6bba62 d9cc8f37-db50-498a-9ec9-5ba1761befd6 g.chr2:163031437C>A ENST00000188790.4 - 22 2116 c.1909G>T c.(1909-1911)Gga>Tga p.G637* FAP_ENST00000443424.1_Nonsense_Mutation_p.G612* NM_004460.2 NP_004451.2 Q12884 SEPR_HUMAN fibroblast activation protein, alpha 637 endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4) 63 AGACCAGTTCCAGATGCAAGG 0.403000 31 52 2.38262e-10 2.94456e-10 1 1 0 KRTAP24-1 643803 broad.mit.edu 37 21 31655019 31655019 + Missense_Mutation SNP G G T TCGA-55-8090-01A-11D-2238-08 TCGA-55-8090-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b5f1b6-b226-4d2c-84be-d8911f6bba62 d9cc8f37-db50-498a-9ec9-5ba1761befd6 g.chr21:31655019G>T ENST00000340345.4 - 1 257 c.232C>A c.(232-234)Ccc>Acc p.P78T NM_001085455.1 NP_001078924.1 Q3LI83 KR241_HUMAN keratin associated protein 24-1 78 keratin filament structural molecule activity breast(1)|large_intestine(3)|lung(7)|urinary_tract(3) 14 CAGGTCTTGGGCTCACAGCTG 0.527000 13 53 7.93312e-07 8.88238e-07 1 1 0 RNF213 57674 broad.mit.edu 37 17 78318846 78318846 + Silent SNP G G T TCGA-55-8090-01A-11D-2238-08 TCGA-55-8090-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b5f1b6-b226-4d2c-84be-d8911f6bba62 d9cc8f37-db50-498a-9ec9-5ba1761befd6 g.chr17:78318846G>T ENST00000582970.1 + 29 6854 c.6711G>T c.(6709-6711)ccG>ccT p.P2237P RNF213_ENST00000508628.2_Silent_p.P2286P|RNF213_ENST00000336301.6_Silent_p.P310P NM_001256071.1 NP_001243000.1 Q9HCF4 ALO17_HUMAN ring finger protein 213 0 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) TCTGCAATCCGAGTTTTATTG 0.488000 31 114 4.16155e-14 5.45162e-14 1 1 0 PRUNE2 158471 broad.mit.edu 37 9 79323199 79323199 + Missense_Mutation SNP G G T TCGA-55-8090-01A-11D-2238-08 TCGA-55-8090-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b5f1b6-b226-4d2c-84be-d8911f6bba62 d9cc8f37-db50-498a-9ec9-5ba1761befd6 g.chr9:79323199G>T ENST00000428286.1 - 8 4114 c.2914C>A c.(2914-2916)Cag>Aag p.Q972K PRUNE2_ENST00000376718.3_Missense_Mutation_p.Q1331K Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 1331 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 GTGGCTCCCTGGGCTTCCTTC 0.532000 16 10 1.67942e-08 1.98201e-08 1 1 0 HUWE1 10075 broad.mit.edu 37 X 53566629 53566629 + Missense_Mutation SNP T T A TCGA-55-8090-01A-11D-2238-08 TCGA-55-8090-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b5f1b6-b226-4d2c-84be-d8911f6bba62 d9cc8f37-db50-498a-9ec9-5ba1761befd6 g.chrX:53566629T>A ENST00000342160.3 - 74 12078 c.11621A>T c.(11620-11622)cAt>cTt p.H3874L HUWE1_ENST00000262854.6_Missense_Mutation_p.H3874L Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase 3874 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 TAGCACCGCATGCTGGTCATG 0.562000 23 20 0 0 1 0 0 HNRNPH2 3188 broad.mit.edu 37 X 100667241 100667241 + Missense_Mutation SNP A A G TCGA-55-8090-01A-11D-2238-08 TCGA-55-8090-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b5f1b6-b226-4d2c-84be-d8911f6bba62 d9cc8f37-db50-498a-9ec9-5ba1761befd6 g.chrX:100667241A>G ENST00000316594.5 + 2 343 c.265A>G c.(265-267)Aac>Gac p.N89D NM_001032393.2|NM_001199973.1|NM_001199974.1|NM_019597.4 NP_001027565.1|NP_001186902.1|NP_001186903.1|NP_062543.1 P55795 HNRH2_HUMAN heterogeneous nuclear ribonucleoprotein H2 (H') 89 RRM 1. nuclear mRNA splicing, via spliceosome actin cytoskeleton|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|RNA binding breast(3)|large_intestine(2)|lung(6)|skin(1) 12 ATTCAAGTCTAACAGTGTTGA 0.448000 60 39 0 0 1 0 0 SNRPN 6638 broad.mit.edu 37 15 25221490 25221490 + Missense_Mutation SNP G G T TCGA-55-8090-01A-11D-2238-08 TCGA-55-8090-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b5f1b6-b226-4d2c-84be-d8911f6bba62 d9cc8f37-db50-498a-9ec9-5ba1761befd6 g.chr15:25221490G>T ENST00000444203.2 + 4 1245 c.206G>T c.(205-207)cGg>cTg p.R69L SNRPN_ENST00000577565.1_Missense_Mutation_p.R65L|SNRPN_ENST00000400098.1_Missense_Mutation_p.R65L|SNRPN_ENST00000390687.4_Missense_Mutation_p.R65L|SNRPN_ENST00000346403.6_Missense_Mutation_p.R65L|SNRPN_ENST00000400100.1_Missense_Mutation_p.R65L|SNURF_ENST00000338094.6_3'UTR|SNRPN_ENST00000400097.1_Missense_Mutation_p.R65L|SNRPN_ENST00000554227.2_Missense_Mutation_p.R69L P63162 RSMN_HUMAN small nuclear ribonucleoprotein polypeptide N 65 RNA splicing small nuclear ribonucleoprotein complex|spliceosomal complex identical protein binding|RNA binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2) 24 all_cancers(20;9.33e-22)|Breast(32;0.000625) all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125) GAAGAAAAGCGGGTTTTGGGT 0.448000 Prader-Willi syndrome 19 74 4.72057e-08 5.47252e-08 1 1 0 CGREF1 10669 broad.mit.edu 37 2 27324379 27324379 + Silent SNP C C T TCGA-55-8090-01A-11D-2238-08 TCGA-55-8090-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b5f1b6-b226-4d2c-84be-d8911f6bba62 d9cc8f37-db50-498a-9ec9-5ba1761befd6 g.chr2:27324379C>T ENST00000402394.1 - 6 988 c.720G>A c.(718-720)ggG>ggA p.G240G CGREF1_ENST00000312734.4_Silent_p.G240G|CGREF1_ENST00000402550.1_Intron|CGREF1_ENST00000404694.3_Silent_p.G362G|CGREF1_ENST00000452318.2_Intron|CGREF1_ENST00000260595.5_Silent_p.G240G|CGREF1_ENST00000405600.1_Silent_p.G240G NM_006569.5 NP_006560.3 Q99674 CGRE1_HUMAN cell growth regulator with EF-hand domain 1 240 cell adhesion|cell cycle arrest|negative regulation of cell proliferation|response to stress extracellular region calcium ion binding kidney(1)|lung(4)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1) 10 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCCCAGCTTCCCCTCTGGGCC 0.697000 75 209 0 0 1 0 0 KLHL18 23276 broad.mit.edu 37 3 47385400 47385400 + Missense_Mutation SNP G G T TCGA-55-8090-01A-11D-2238-08 TCGA-55-8090-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b5f1b6-b226-4d2c-84be-d8911f6bba62 d9cc8f37-db50-498a-9ec9-5ba1761befd6 g.chr3:47385400G>T ENST00000232766.5 + 10 1714 c.1694G>T c.(1693-1695)gGt>gTt p.G565V KLHL18_ENST00000455924.2_Missense_Mutation_p.G453V NM_025010.4 NP_079286.2 O94889 KLH18_HUMAN kelch-like family member 18 565 endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 21 Acute lymphoblastic leukemia(5;0.164) BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741) GGAGGGGTCGGTGTGGGCTGC 0.577000 49 113 7.10663e-31 1.03441e-30 1 1 0 NDUFAF1 51103 broad.mit.edu 37 15 41689208 41689208 + Missense_Mutation SNP A A C TCGA-55-8090-01A-11D-2238-08 TCGA-55-8090-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b5f1b6-b226-4d2c-84be-d8911f6bba62 d9cc8f37-db50-498a-9ec9-5ba1761befd6 g.chr15:41689208A>C ENST00000260361.4 - 2 431 c.50T>G c.(49-51)tTc>tGc p.F17C NM_016013.3 NP_057097.2 Q9Y375 CIA30_HUMAN NADH dehydrogenase (ubiquinone) complex I, assembly factor 1 17 mitochondrial electron transport, NADH to ubiquinone|protein complex assembly mitochondrial respiratory chain complex I unfolded protein binding endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1) 12 all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143) OV - Ovarian serous cystadenocarcinoma(18;8e-17)|GBM - Glioblastoma multiforme(113;1.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.114) TGGCTTAGAGAATTTTCTGAG 0.433000 24 22 0 0 1 0 0 RPTN 126638 broad.mit.edu 37 1 152127881 152127884 + Frame_Shift_Del DEL TGTC TGTC - TCGA-55-8090-01A-11D-2238-08 TCGA-55-8090-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b5f1b6-b226-4d2c-84be-d8911f6bba62 d9cc8f37-db50-498a-9ec9-5ba1761befd6 g.chr1:152127881_152127884delTGTC ENST00000316073.3 - 3 1755_1758 c.1691_1694delGACA c.(1690-1695)aafs p.RQ564fs NM_001122965.1 NP_001116437.1 Q6XPR3 RPTN_HUMAN repetin 564 Gln-rich. proteinaceous extracellular matrix calcium ion binding breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 59 GCTCTGGCCTTGTCTGTCTGTCTG 0.485 9 1160 --- --- --- --- RP11-13J8.1 0 broad.mit.edu 37 2 201967218 201967218 + RNA DEL G G - TCGA-55-8090-01A-11D-2238-08 TCGA-55-8090-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b5f1b6-b226-4d2c-84be-d8911f6bba62 d9cc8f37-db50-498a-9ec9-5ba1761befd6 g.chr2:201967218delG ENST00000448256.1 + 0 628 aaaaaaaaaagaaTTTGTTCT 0.463 2 4 --- --- --- --- STK16 8576 broad.mit.edu 37 2 220112939 220112941 + In_Frame_Del DEL ATG ATG - TCGA-55-8090-01A-11D-2238-08 TCGA-55-8090-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b5f1b6-b226-4d2c-84be-d8911f6bba62 d9cc8f37-db50-498a-9ec9-5ba1761befd6 g.chr2:220112939_220112941delATG ENST00000409638.3 + 7 854_856 c.682_684delATG c.(682-684)del p.M229del STK16_ENST00000409260.1_In_Frame_Del_p.M274del|STK16_ENST00000409743.1_In_Frame_Del_p.M197del|STK16_ENST00000409516.3_In_Frame_Del_p.M111del|STK16_ENST00000396738.2_In_Frame_Del_p.M229del NM_001008910.2 NP_001008910.1 O75716 STK16_HUMAN serine/threonine kinase 16 229 Protein kinase. protein complex assembly membrane ATP binding|protein binding|protein serine/threonine kinase activity skin(1) 1 Renal(207;0.0474) Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GCTATATGCCATGATGTTTGGGG 0.517 32 95 --- --- --- --- UBE2E1-AS1 100874092 broad.mit.edu 37 3 23847374 23847376 + RNA DEL GAG GAG - TCGA-55-8090-01A-11D-2238-08 TCGA-55-8090-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b5f1b6-b226-4d2c-84be-d8911f6bba62 d9cc8f37-db50-498a-9ec9-5ba1761befd6 g.chr3:23847374_23847376delGAG ENST00000426702.1 - 0 87 gggtgagggcgaggaggaggagg 0.690 3 6 --- --- --- --- DEK 7913 broad.mit.edu 37 6 18264071 18264072 + Splice_Site DEL CA CA - TCGA-55-8090-01A-11D-2238-08 TCGA-55-8090-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b5f1b6-b226-4d2c-84be-d8911f6bba62 d9cc8f37-db50-498a-9ec9-5ba1761befd6 g.chr6:18264071_18264072delCA ENST00000397239.3 - 2 593 c.e2+1 DEK_ENST00000244776.7_Splice_Site NM_003472.3 NP_003463.1 P35659 DEK_HUMAN DEK oncogene chromatin modification|regulation of transcription from RNA polymerase II promoter|signal transduction|transcription from RNA polymerase II promoter|viral genome replication nucleus DNA binding|histone binding endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1) 7 Ovarian(93;0.00769)|Breast(50;0.0495) all_hematologic(90;0.053) OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332) CGACTCCCCCCACCTTTTtcct 0.520 T NUP214 AML 12 57 --- --- --- --- FAM126A 84668 broad.mit.edu 37 7 23015874 23015874 + Frame_Shift_Del DEL T T - TCGA-55-8090-01A-11D-2238-08 TCGA-55-8090-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b5f1b6-b226-4d2c-84be-d8911f6bba62 d9cc8f37-db50-498a-9ec9-5ba1761befd6 g.chr7:23015874delT ENST00000432176.2 - 7 813 c.581delA c.(580-582)tcfs p.Y194fs FAM126A_ENST00000409923.1_Frame_Shift_Del_p.Y194fs NM_032581.3 NP_115970.2 Q9BYI3 HYCCI_HUMAN family with sequence similarity 126, member A 194 Y -> C (in Ref. 1; BAB39849). cytoplasm|membrane signal transducer activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|urinary_tract(2) 23 ACTGGGCATGTAAGTTAAGGC 0.303 59 149 --- --- --- --- TRBV6-8 28599 broad.mit.edu 37 7 142124496 142124497 + RNA INS - - G rs72463875 TCGA-55-8090-01A-11D-2238-08 TCGA-55-8090-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b5f1b6-b226-4d2c-84be-d8911f6bba62 d9cc8f37-db50-498a-9ec9-5ba1761befd6 g.chr7:142124496_142124497insG ENST00000390376.2 - 0 49 AATCCACGCAAGGGCCCTGCCC 0.614 9 161 --- --- --- --- KIF3B 9371 broad.mit.edu 37 20 30898763 30898765 + In_Frame_Del DEL GAG GAG - TCGA-55-8090-01A-11D-2238-08 TCGA-55-8090-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b5f1b6-b226-4d2c-84be-d8911f6bba62 d9cc8f37-db50-498a-9ec9-5ba1761befd6 g.chr20:30898763_30898765delGAG ENST00000375712.3 + 2 1350_1352 c.1183_1185delGAG c.(1183-1185)del p.E399del KIF3B_ENST00000418717.2_Intron NM_004798.3 NP_004789.1 O15066 KIF3B_HUMAN kinesin family member 3B 399 Poly-Glu. anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 36 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) GGGTGGggaagaggaggaggagg 0.571 7 51 --- --- --- --- LTN1 26046 broad.mit.edu 37 21 30329201 30329201 + Frame_Shift_Del DEL C C - TCGA-55-8090-01A-11D-2238-08 TCGA-55-8090-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b5f1b6-b226-4d2c-84be-d8911f6bba62 d9cc8f37-db50-498a-9ec9-5ba1761befd6 g.chr21:30329201delC ENST00000361371.4 - 16 3112 c.2962delG c.(2962-2964)aafs p.E988fs LTN1_ENST00000389194.2_Frame_Shift_Del_p.E1034fs NM_015565.2 NP_056380.2 O94822 LTN1_HUMAN listerin E3 ubiquitin protein ligase 1 988 ligase activity|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2) 60 ATGTCCTGTTCCTTAAAATCT 0.323 9 27 --- --- --- --- CD99L2 83692 broad.mit.edu 37 X 149984524 149984526 + In_Frame_Del DEL GTG GTG - TCGA-55-8090-01A-11D-2238-08 TCGA-55-8090-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b5f1b6-b226-4d2c-84be-d8911f6bba62 d9cc8f37-db50-498a-9ec9-5ba1761befd6 g.chrX:149984524_149984526delGTG ENST00000370377.3 - 3 273_275 c.156_158delCAC c.(154-159)aca>ac p.TT52del CD99L2_ENST00000437787.2_In_Frame_Del_p.TT52del|CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000466436.1_Intron|CD99L2_ENST00000355149.3_Intron NM_001242614.1|NM_031462.3 NP_001229543.1|NP_113650.2 Q8TCZ2 C99L2_HUMAN CD99 molecule-like 2 52 Poly-Thr. cell adhesion cell junction|integral to membrane endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) CCTATTGGTTGTGGTGGTGGTGG 0.552 8 380 --- --- --- ---