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 NAV2 89797 broad.mit.edu 37 11 19901579 19901579 + Nonsense_Mutation SNP C C T TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr11:19901579C>T ENST00000396085.1 + 5 1037 c.676C>T c.(676-678)Cag>Tag p.Q226* NAV2_ENST00000396087.3_Nonsense_Mutation_p.Q226*|NAV2_ENST00000349880.4_Nonsense_Mutation_p.Q226*|NAV2_ENST00000534229.1_3'UTR|NAV2_ENST00000540292.1_Nonsense_Mutation_p.Q157*|NAV2_ENST00000360655.4_Nonsense_Mutation_p.Q162*|NAV2_ENST00000527559.2_Nonsense_Mutation_p.Q155* NM_182964.5 NP_892009.3 Q8IVL1 NAV2_HUMAN neuron navigator 2 226 Gln-rich. nucleus ATP binding|helicase activity NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 116 TGGCACCCCTCAGCAGCAGGT 0.677000 21 66 0 0 0.008871 0 0 ASH1L 55870 broad.mit.edu 37 1 155408773 155408773 + Missense_Mutation SNP C C T TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr1:155408773C>T ENST00000368346.3 - 5 5812 c.5173G>A c.(5173-5175)Gag>Aag p.E1725K ASH1L_ENST00000392403.3_Missense_Mutation_p.E1725K Q9NR48 ASH1L_HUMAN ash1 (absent, small, or homeotic)-like (Drosophila) 1725 Ser-rich. cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|Golgi apparatus|nucleus|tight junction DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4) 124 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) TCTTGGTCCTCATTTTGTACC 0.502000 21 90 0 0 0.008871 0 0 SLC6A19 340024 broad.mit.edu 37 5 1208934 1208934 + Silent SNP C C T rs146678323 byFrequency TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr5:1208934C>T ENST00000304460.10 + 2 332 c.276C>T c.(274-276)atC>atT p.I92I NM_001003841.2 NP_001003841.1 Q695T7 S6A19_HUMAN solute carrier family 6 (neutral amino acid transporter), member 19 92 cellular nitrogen compound metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 44 all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10) Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) AGTTCGCCATCGGGCAGCGGC 0.667000 15 132 0 0 0.004007 0 0 PSD2 84249 broad.mit.edu 37 5 139221900 139221900 + Silent SNP C C T TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr5:139221900C>T ENST00000274710.3 + 15 2362 c.2157C>T c.(2155-2157)atC>atT p.I719I NM_032289.2 NP_115665.1 Q9BQI7 PSD2_HUMAN pleckstrin and Sec7 domain containing 2 719 regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2) 38 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTATGAAAATCAAAGTGGGCT 0.498000 7 61 0 0 0.001984 0 0 DDX59 83479 broad.mit.edu 37 1 200635525 200635525 + Missense_Mutation SNP C C T TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr1:200635525C>T ENST00000447706.2 - 2 495 c.344G>A c.(343-345)gGa>gAa p.G115E DDX59_ENST00000367348.3_Missense_Mutation_p.G115E|DDX59_ENST00000331314.6_Missense_Mutation_p.G115E Q5T1V6 DDX59_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 59 115 intracellular ATP binding|ATP-dependent helicase activity|metal ion binding|RNA binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3) 21 GATATACTCTCCATAACGACC 0.433000 18 116 0 0 0.004990 0 0 BCAS2 10286 broad.mit.edu 37 1 115118317 115118317 + Missense_Mutation SNP C C G TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr1:115118317C>G ENST00000369541.3 - 4 360 c.313G>C c.(313-315)Gaa>Caa p.E105Q BCAS2_ENST00000485021.1_5'UTR NM_005872.2 NP_005863.1 O75934 SPF27_HUMAN breast carcinoma amplified sequence 2 105 mRNA processing|RNA splicing, via transesterification reactions nucleolus|spliceosomal complex protein binding biliary_tract(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4) 13 all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) TTTACACATTCTTGCCATGCA 0.373000 24 120 0 0 0.003954 0 0 STXBP4 252983 broad.mit.edu 37 17 53124492 53124492 + Missense_Mutation SNP G G C TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr17:53124492G>C ENST00000376352.2 + 12 1195 c.988G>C c.(988-990)Gaa>Caa p.E330Q STXBP4_ENST00000434978.2_Intron NM_178509.5 NP_848604.3 Q6ZWJ1 STXB4_HUMAN syntaxin binding protein 4 330 cytoplasm calcium ion binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2) 19 ACAATTGACAGAAGAGCTCCA 0.333000 6 49 0 0 0.001168 0 0 TGIF2LX 90316 broad.mit.edu 37 X 89177511 89177511 + Missense_Mutation SNP C C T TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chrX:89177511C>T ENST00000561129.2 + 1 557 c.427C>T c.(427-429)Ccg>Tcg p.P143S TGIF2LX_ENST00000283891.5_Missense_Mutation_p.P143S Q8IUE1 TF2LX_HUMAN TGFB-induced factor homeobox 2-like, X-linked 143 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.P143S(1) central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1) 40 GGCGTCTGTGCCGGCCAAGTC 0.587000 4 74 0 0 0.000248 0 0 KLB 152831 broad.mit.edu 37 4 39409050 39409050 + Missense_Mutation SNP G G T TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr4:39409050G>T ENST00000257408.4 + 1 578 c.481G>T c.(481-483)Gat>Tat p.D161Y NM_175737.3 NP_783864.1 Q86Z14 KLOTB_HUMAN klotho beta 161 Glycosyl hydrolase-1 1. carbohydrate metabolic process integral to membrane|plasma membrane cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6) 29 GCTTTTCCCCGATGGAATAGT 0.378000 22 165 5.26018e-13 1.04144e-12 0.001882 1 0 EZR 7430 broad.mit.edu 37 6 159205678 159205678 + Silent SNP G G A TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr6:159205678G>A ENST00000367075.3 - 6 717 c.549C>T c.(547-549)ctC>ctT p.L183L EZR_ENST00000337147.7_Silent_p.L183L|EZR_ENST00000392177.4_Silent_p.L151L|EZR_ENST00000476189.1_5'UTR NM_001111077.1 NP_001104547.1 P15311 EZRI_HUMAN ezrin 183 FERM. actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane actin filament binding|cell adhesion molecule binding EZR/ROS1(4) breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2) 15 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06) GCACTCACTTGAGCATCCCAC 0.542000 T ROS1 NSCLC 6 45 0 0 0.003080 0 0 MOB3B 79817 broad.mit.edu 37 9 27455341 27455341 + Silent SNP G G T TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr9:27455341G>T ENST00000262244.5 - 2 632 c.208C>A c.(208-210)Cgg>Agg p.R70R NM_024761.4 NP_079037.3 Q86TA1 MOL2B_HUMAN MOB kinase activator 3B 70 metal ion binding|protein binding p.R70W(1) AGGTTGATCCGATTGAAGAAG 0.562000 25 138 3.01185e-09 5.8262e-09 0.003954 1 0 ACTB 60 broad.mit.edu 37 7 5567777 5567777 + Missense_Mutation SNP G G C TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr7:5567777G>C ENST00000331789.5 - 5 1033 c.842C>G c.(841-843)tCc>tGc p.S281C AC006483.1_ENST00000579427.1_RNA NM_001101.3 NP_001092.1 P60709 ACTB_HUMAN actin, beta 281 'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2) 8 Ovarian(82;0.0606) UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37) CTTCATGATGGAGTTGAAGGT 0.567000 33 237 0 0 0.003271 0 0 GLB1L2 89944 broad.mit.edu 37 11 134243652 134243652 + Silent SNP G G A TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr11:134243652G>A ENST00000535456.2 + 16 1733 c.1545G>A c.(1543-1545)ctG>ctA p.L515L GLB1L2_ENST00000389881.3_Silent_p.L515L|GLB1L2_ENST00000339772.7_Silent_p.L515L|GLB1L2_ENST00000529077.1_3'UTR NM_138342.3 NP_612351.2 Q8IW92 GLBL2_HUMAN galactosidase, beta 1-like 2 515 carbohydrate metabolic process extracellular region cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 all_hematologic(175;0.127) all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844) Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223) ATTCACCCCTGAAAAACTTCA 0.542000 35 285 0 0 0.003271 0 0 RADIL 55698 broad.mit.edu 37 7 4856876 4856876 + Missense_Mutation SNP G G A TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr7:4856876G>A ENST00000536091.1 - 6 1693 c.1561C>T c.(1561-1563)Ctc>Ttc p.L521F RADIL_ENST00000538469.1_Silent_p.V334V|RADIL_ENST00000399583.3_Silent_p.V574V Q96JH8 RADIL_HUMAN Ras association and DIL domains 902 Dilute. cell adhesion|multicellular organismal development|signal transduction protein binding NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15) GCACCTTGGAGACATAGTAGA 0.617000 11 99 0 0 0.000978 0 0 GBP4 115361 broad.mit.edu 37 1 89654362 89654362 + Missense_Mutation SNP C C G TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr1:89654362C>G ENST00000355754.6 - 8 1410 c.1313G>C c.(1312-1314)aGa>aCa p.R438T NM_052941.4 NP_443173.2 Q96PP9 GBP4_HUMAN guanylate binding protein 4 438 cytoplasm GTP binding|GTPase activity central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1) 33 all cancers(265;0.00723)|Epithelial(280;0.0291) GAAAATTCCTCTCAAAATGCT 0.448000 38 430 0 0 0.003755 0 0 EPHB3 2049 broad.mit.edu 37 3 184297327 184297327 + Missense_Mutation SNP C C T TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr3:184297327C>T ENST00000330394.2 + 10 2316 c.1864C>T c.(1864-1866)Cgg>Tgg p.R622W EIF2B5_ENST00000444495.1_Intron NM_004443.3 NP_004434.2 P54753 EPHB3_HUMAN EPH receptor B3 622 integral to plasma membrane ATP binding|ephrin receptor activity breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 51 all_cancers(143;1.89e-10)|Ovarian(172;0.0339) Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22) TGAGGCTGTTCGGGAGTTTGC 0.547000 6 97 0 0 0.001168 0 0 LAMA2 3908 broad.mit.edu 37 6 129419396 129419396 + Missense_Mutation SNP G G C TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr6:129419396G>C ENST00000421865.2 + 4 524 c.475G>C c.(475-477)Gat>Cat p.D159H NM_000426.3|NM_001079823.1 NP_000417|NP_001073291.1 P24043 LAMA2_HUMAN laminin, alpha 2 159 Laminin N-terminal. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) ACGCTCTCTTGATGATGTTGA 0.493000 23 98 0 0 0.003954 0 0 DRGX 644168 broad.mit.edu 37 10 50574201 50574201 + Missense_Mutation SNP G G C TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr10:50574201G>C ENST00000374139.2 - 6 762 c.752C>G c.(751-753)tCt>tGt p.S251C DRGX_ENST00000434016.1_Missense_Mutation_p.S256C C9JW76 C9JW76_HUMAN dorsal root ganglia homeobox 256 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5) 11 CTTGGTGGGAGAGGTCTTTTC 0.677000 8 103 0 0 0.003080 0 0 PAH 5053 broad.mit.edu 37 12 103246681 103246681 + Missense_Mutation SNP G G C rs5030847 TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr12:103246681G>C ENST00000553106.1 - 7 1226 c.754C>G c.(754-756)Cgg>Ggg p.R252G PAH_ENST00000307000.2_Missense_Mutation_p.R247G NM_000277.1 NP_000268.1 P00439 PH4H_HUMAN phenylalanine hydroxylase 252 R -> G (in PKU; haplotype 7).|R -> Q (in PKU; haplotype 1).|R -> W (in PKU; haplotypes 1,6,7,8,42, 69; complete loss of activity). catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process cytosol phenylalanine 4-monooxygenase activity endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1) 27 Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360) AAGAAATCCCGAGAGGAAAGC 0.537000 4 250 0 0 0.000248 0 0 MCCC1 56922 broad.mit.edu 37 3 182763229 182763229 + Missense_Mutation SNP C C A TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr3:182763229C>A ENST00000492597.1 - 9 1430 c.728G>T c.(727-729)gGa>gTa p.G243V MCCC1_ENST00000265594.4_Missense_Mutation_p.G352V|MCCC1_ENST00000539926.1_Missense_Mutation_p.G217V Q96RQ3 MCCA_HUMAN methylcrotonoyl-CoA carboxylase 1 (alpha) 352 ATP-grasp.|Biotin carboxylation. biotin metabolic process|leucine catabolic process mitochondrial inner membrane|mitochondrial matrix ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2) 40 all_cancers(143;1.84e-14)|Ovarian(172;0.0355) all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21) Biotin(DB00121) CAAGTCAGTTCCTGTGATCAT 0.438000 19 168 3.51602e-12 6.89186e-12 0.008871 1 0 PALD1 27143 broad.mit.edu 37 10 72299450 72299450 + Missense_Mutation SNP C C T TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr10:72299450C>T ENST00000263563.6 + 15 2108 c.1840C>T c.(1840-1842)Cgc>Tgc p.R614C NM_014431.2 NP_055246.2 phosphatase domain containing, paladin 1 CAGCCAGCACCGCAGGGCCTG 0.662000 17 101 0 0 0.004990 0 0 COG5 10466 broad.mit.edu 37 7 106938618 106938618 + Missense_Mutation SNP C C G TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr7:106938618C>G ENST00000393603.2 - 12 1646 c.1375G>C c.(1375-1377)Gat>Cat p.D459H COG5_ENST00000347053.3_Missense_Mutation_p.D459H|COG5_ENST00000297135.3_Missense_Mutation_p.D459H NM_001161520.1 NP_001154992.1 Q9UP83 COG5_HUMAN component of oligomeric golgi complex 5 459 intra-Golgi vesicle-mediated transport|protein transport cytosol|Golgi membrane|Golgi transport complex|nucleus protein binding breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1) 40 ATGAATATATCTTGTGCATCA 0.313000 19 134 0 0 0.001882 0 0 ZBTB22 9278 broad.mit.edu 37 6 33282841 33282841 + Missense_Mutation SNP G G C rs147609143 TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr6:33282841G>C ENST00000431845.2 - 2 2004 c.1853C>G c.(1852-1854)cCc>cGc p.P618R ZBTB22_ENST00000418724.1_Missense_Mutation_p.P618R NM_005453.4 NP_005444.4 O15209 ZBT22_HUMAN zinc finger and BTB domain containing 22 618 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3) 21 GTGGACTCTGGGTGGGGACCA 0.647000 14 96 0 0 0.004007 0 0 ERBB2 2064 broad.mit.edu 37 17 37866352 37866352 + Silent SNP C C A TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr17:37866352C>A ENST00000406381.2 + 8 1077 c.567C>A c.(565-567)gtC>gtA p.V189V ERBB2_ENST00000541774.1_Silent_p.V204V|ERBB2_ENST00000445658.2_Intron|ERBB2_ENST00000578199.1_Silent_p.V189V|ERBB2_ENST00000540042.1_Silent_p.V189V|ERBB2_ENST00000584601.1_Silent_p.V189V|ERBB2_ENST00000269571.5_Silent_p.V219V|ERBB2_ENST00000540147.1_Silent_p.V189V|ERBB2_ENST00000584450.1_Silent_p.V219V NM_001005862.1 NP_001005862.1 P04626 ERBB2_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 219 cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4) 247 all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) Ovarian(249;0.0547)|Colorectal(1115;0.234) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171) UCEC - Uterine corpus endometrioid carcinoma (308;0.0767) Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072) CGCGCACTGTCTGTGCCGGTG 0.657000 1 """A, Mis, O""" """breast, ovarian, other tumour types, NSCLC, gastric""" TCGA GBM(5;<1E-08) 25 161 2.12542e-12 4.17998e-12 0.006320 1 0 CUX2 23316 broad.mit.edu 37 12 111758153 111758153 + Silent SNP C C T TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr12:111758153C>T ENST00000261726.6 + 17 2494 c.2340C>T c.(2338-2340)ggC>ggT p.G780G NM_015267.3 NP_056082.2 O14529 CUX2_HUMAN cut-like homeobox 2 780 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 55 CCGAGATCGGCGACGCCGGCT 0.726000 7 234 0 0 0.003080 0 0 PAXBP1 94104 broad.mit.edu 37 21 34107329 34107329 + Missense_Mutation SNP C C G TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr21:34107329C>G ENST00000331923.4 - 18 2875 c.2686G>C c.(2686-2688)Gat>Cat p.D896H PAXBP1-AS1_ENST00000440052.1_RNA|PAXBP1-AS1_ENST00000455170.1_RNA NM_016631.3 NP_057715.2 PAX3 and PAX7 binding protein 1 ATAGCATGATCCAAAGCTCGA 0.323000 10 46 0 0 0.006214 0 0 ZZEF1 23140 broad.mit.edu 37 17 3921190 3921190 + Silent SNP C C T TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr17:3921190C>T ENST00000381638.2 - 47 7705 c.7581G>A c.(7579-7581)ctG>ctA p.L2527L NM_015113.3 NP_055928.3 O43149 ZZEF1_HUMAN zinc finger, ZZ-type with EF-hand domain 1 2527 calcium ion binding|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 84 CTTCCAGCCTCAGACTCTTAC 0.537000 15 72 0 0 0.002450 0 0 AFAP1 60312 broad.mit.edu 37 4 7774605 7774605 + Missense_Mutation SNP G G A TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr4:7774605G>A ENST00000420658.1 - 16 2467 c.2195C>T c.(2194-2196)gCg>gTg p.A732V AFAP1_ENST00000358461.2_Missense_Mutation_p.A648V|AFAP1_ENST00000382543.3_Missense_Mutation_p.A732V|AFAP1_ENST00000360265.4_Missense_Mutation_p.A648V|AFAP1_ENST00000513842.1_5'UTR|AFAP1-AS1_ENST00000608442.1_RNA NM_001134647.1 NP_001128119.1 Q8N556 AFAP1_HUMAN actin filament associated protein 1 652 actin cytoskeleton|cytoplasm|focal adhesion actin binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2) 32 GACTCCGCCCGCCAGCGCTTT 0.657000 4 49 0 0 0.000248 0 0 FAM214B 80256 broad.mit.edu 37 9 35107482 35107482 + Missense_Mutation SNP T T C TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr9:35107482T>C ENST00000378561.1 - 2 3845 c.790A>G c.(790-792)Agg>Ggg p.R264G FAM214B_ENST00000605244.1_Missense_Mutation_p.R264G|FAM214B_ENST00000378554.2_Missense_Mutation_p.R264G|FAM214B_ENST00000603301.1_Missense_Mutation_p.R264G|FAM214B_ENST00000378557.1_Missense_Mutation_p.R264G|FAM214B_ENST00000322813.5_Missense_Mutation_p.R264G|FAM214B_ENST00000488109.2_Missense_Mutation_p.R264G|FAM214B_ENST00000378566.1_5'UTR Q7L5A3 K1539_HUMAN family with sequence similarity 214, member B 264 nucleus CCCCGGCGCCTCCGAGGGGCT 0.667000 5 282 0 0 0.000602 0 0 ZFP36L2 678 broad.mit.edu 37 2 43452225 43452225 + Missense_Mutation SNP C C G TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr2:43452225C>G ENST00000282388.3 - 2 1011 c.718G>C c.(718-720)Gat>Cat p.D240H THADA_ENST00000330266.7_Intron NM_006887.4 NP_008818.3 P47974 TISD_HUMAN ZFP36 ring finger protein-like 2 240 cell proliferation nucleus DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.D240N(2) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 15 Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824) TGCAACGCATCGCGCGTGCCA 0.746000 8 20 0 0 0.003080 0 0 ZNF524 147807 broad.mit.edu 37 19 56113616 56113616 + Silent SNP C C G TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr19:56113616C>G ENST00000591046.1 + 1 372 c.138C>G c.(136-138)ctC>ctG p.L46L ZNF524_ENST00000301073.3_Silent_p.L46L Q96C55 ZN524_HUMAN zinc finger protein 524 46 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|large_intestine(2)|lung(6)|prostate(1) 10 BRCA - Breast invasive adenocarcinoma(297;0.18) GBM - Glioblastoma multiforme(193;0.105) ATCGGACACTCAAGGCCTCCC 0.692000 5 32 0 0 0.000602 0 0 PAXBP1 94104 broad.mit.edu 37 21 34134626 34134626 + Missense_Mutation SNP C C T TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr21:34134626C>T ENST00000331923.4 - 4 841 c.652G>A c.(652-654)Gaa>Aaa p.E218K PAXBP1_ENST00000472588.1_5'UTR|PAXBP1_ENST00000290178.4_Missense_Mutation_p.E218K NM_016631.3 NP_057715.2 PAX3 and PAX7 binding protein 1 TCTGGAATTTCTCCTAGAAAC 0.388000 7 33 0 0 0.001984 0 0 MLC1 23209 broad.mit.edu 37 22 50506964 50506964 + Missense_Mutation SNP T T C TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr22:50506964T>C ENST00000311597.5 - 10 1398 c.792A>G c.(790-792)atA>atG p.I264M MLC1_ENST00000535444.1_Missense_Mutation_p.I185M|MLC1_ENST00000450140.2_Missense_Mutation_p.I212M|MLC1_ENST00000483836.1_5'UTR|MLC1_ENST00000431262.2_Missense_Mutation_p.I234M|MLC1_ENST00000395876.2_Missense_Mutation_p.I264M|MLC1_ENST00000538737.1_Missense_Mutation_p.I230M NM_015166.3 NP_055981.1 Q15049 MLC1_HUMAN megalencephalic leukoencephalopathy with subcortical cysts 1 264 basolateral plasma membrane|endosome|integral to membrane|integral to membrane of membrane fraction ion channel activity endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(3) 18 all_cancers(38;7.69e-11)|all_epithelial(38;9.52e-10)|all_lung(38;3.67e-05)|Breast(42;0.000776)|Lung NSC(38;0.000946)|Ovarian(80;0.0365)|Lung SC(80;0.113) READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216) TGAGGCTGCTTATGGCAATCA 0.592000 31 181 0 0 0.001786 0 0 UTP20 27340 broad.mit.edu 37 12 101696246 101696246 + Missense_Mutation SNP C C G TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr12:101696246C>G ENST00000261637.4 + 15 1870 c.1696C>G c.(1696-1698)Caa>Gaa p.Q566E NM_014503.2 NP_055318.2 O75691 UTP20_HUMAN UTP20, small subunit (SSU) processome component, homolog (yeast) 566 endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation 90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome protein binding NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 TGTTCTTTGTCAAGCTGTAAA 0.308000 11 126 0 0 0.000978 0 0 STK38L 23012 broad.mit.edu 37 12 27461378 27461378 + Missense_Mutation SNP G G C rs150452352 TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr12:27461378G>C ENST00000389032.3 + 4 462 c.293G>C c.(292-294)aGa>aCa p.R98T STK38L_ENST00000539577.1_Intron NM_015000.3 NP_055815.1 Q9Y2H1 ST38L_HUMAN serine/threonine kinase 38 like 98 Protein kinase. intracellular protein kinase cascade|regulation of cellular component organization actin cytoskeleton|cytoplasm actin binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1) 12 Colorectal(261;0.0847) GTTATAGGAAGAGGAGCTTTT 0.373000 29 203 0 0 0.001786 0 0 SRRM2 23524 broad.mit.edu 37 16 2818064 2818064 + Missense_Mutation SNP C C G TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr16:2818064C>G ENST00000301740.8 + 11 8084 c.7535C>G c.(7534-7536)tCt>tGt p.S2512C SRRM2_ENST00000574593.1_3'UTR NM_016333.3 NP_057417.3 Q9UQ35 SRRM2_HUMAN serine/arginine repetitive matrix 2 2512 Ser-rich. Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7) 105 CCACCTGCCTCTACTGGGGCC 0.637000 10 54 0 0 0.008291 0 0 PDCL 5082 broad.mit.edu 37 9 125582591 125582591 + Nonsense_Mutation SNP G G A TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr9:125582591G>A ENST00000259467.4 - 4 844 c.679C>T c.(679-681)Cag>Tag p.Q227* NM_005388.4 NP_005379.3 Q13371 PHLP_HUMAN phosducin-like 227 signal transduction|visual perception endometrium(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1) 10 CTGGTGAACTGACTGCTGGCG 0.517000 13 76 0 0 0.001855 0 0 ZNF534 147658 broad.mit.edu 37 19 52942411 52942411 + Silent SNP G G A rs113700997 TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr19:52942411G>A ENST00000332323.6 + 4 1798 c.1737G>A c.(1735-1737)gcG>gcA p.A579A ZNF534_ENST00000432303.2_Intron|ZNF534_ENST00000301085.4_Intron|ZNF534_ENST00000433050.1_Silent_p.A566A NM_001143939.1 NP_001137411.1 Q76KX8 ZN534_HUMAN zinc finger protein 534 579 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.A579A(4) central_nervous_system(1)|lung(1)|prostate(1)|skin(1) 4 CACACCTTGCGCGACATAGGA 0.443000 5 47 0 0 0.001168 0 0 BTG4 54766 broad.mit.edu 37 11 111367977 111367977 + Missense_Mutation SNP G G T TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr11:111367977G>T ENST00000525791.1 - 4 653 c.469C>A c.(469-471)Cgt>Agt p.R157S BTG4_ENST00000356018.2_Missense_Mutation_p.R157S Q9NY30 BTG4_HUMAN B-cell translocation gene 4 157 cell cycle arrest|negative regulation of cell proliferation|neuron differentiation large_intestine(2)|upper_aerodigestive_tract(1) 3 all_cancers(61;3.78e-13)|all_epithelial(67;5.29e-08)|Melanoma(852;3.15e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0204)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) Epithelial(105;1.22e-06)|BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|all cancers(92;2.18e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0509) GGAATGACACGAGGTTCCTTG 0.388000 25 142 3.28513e-13 6.52601e-13 0.003954 1 0 NAPSA 9476 broad.mit.edu 37 19 50865522 50865522 + Silent SNP C C T TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr19:50865522C>T ENST00000253719.2 - 2 340 c.132G>A c.(130-132)ctG>ctA p.L44L NR1H2_ENST00000542413.1_Intron|NR1H2_ENST00000600978.1_Intron NM_004851.1 NP_004842.1 O96009 NAPSA_HUMAN napsin A aspartic peptidase 44 proteolysis extracellular region aspartic-type endopeptidase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3) 12 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183) TCCATCCCCTCAGTAGGTTCA 0.557000 18 49 0 0 0.006122 0 0 MUC16 94025 broad.mit.edu 37 19 9087344 9087344 + Missense_Mutation SNP G G A TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr19:9087344G>A ENST00000397910.4 - 1 4674 c.4471C>T c.(4471-4473)Cct>Tct p.P1491S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 1491 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GTGGACATAGGTGGAAAAATA 0.428000 38 225 0 0 0.005524 0 0 FRG1B 284802 broad.mit.edu 37 20 29633900 29633900 + Missense_Mutation SNP A A G rs60081496 by1000genomes TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr20:29633900A>G ENST00000278882.3 + 9 919 c.539A>G c.(538-540)gAa>gGa p.E180G FRG1B_ENST00000358464.4_Missense_Mutation_p.E180G p.E180G(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TAAACAAGAGAACCAAATTGA 0.264000 10 176 0 0 0.004007 0 0 ANKRD20A8P 729171 broad.mit.edu 37 2 95522772 95522772 + RNA SNP T T C TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr2:95522772T>C ENST00000432432.2 - 0 255 NR_040113.1 p.E49G(1) GCGCTCCACCTCCGCGGCGTC 0.682000 8 109 0 0 0.000978 0 0 PXDN 7837 broad.mit.edu 37 2 1643087 1643087 + Missense_Mutation SNP G G A TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr2:1643087G>A ENST00000252804.4 - 20 4110 c.4060C>T c.(4060-4062)Cgg>Tgg p.R1354W NM_012293.1 NP_036425.1 Q92626 PXDN_HUMAN peroxidasin homolog (Drosophila) 1354 extracellular matrix organization|hydrogen peroxide catabolic process|immune response endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity p.R1354W(1) breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 112 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716) all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228) GGTATTTTCCGTGGTCTTGTT 0.577000 5 28 0 0 0.001168 0 0 KRT5 3852 broad.mit.edu 37 12 52911913 52911913 + Missense_Mutation SNP C C G TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr12:52911913C>G ENST00000252242.4 - 3 1195 c.805G>C c.(805-807)Gag>Cag p.E269Q NM_000424.3 NP_000415.2 P13647 K2C5_HUMAN keratin 5 269 Coil 1B.|Rod. epidermis development|hemidesmosome assembly cytosol|keratin filament protein binding|structural constituent of cytoskeleton endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2) 35 BRCA - Breast invasive adenocarcinoma(357;0.189) AACTCATTCTCAGCAGTGGTA 0.498000 30 233 0 0 0.002096 0 0 INTS9 55756 broad.mit.edu 37 8 28695229 28695229 + Missense_Mutation SNP G G A TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr8:28695229G>A ENST00000416984.2 - 4 622 c.263C>T c.(262-264)gCg>gTg p.A88V INTS9_ENST00000397363.4_Missense_Mutation_p.A3V|INTS9_ENST00000521777.1_Missense_Mutation_p.A85V|INTS9_ENST00000521022.1_Missense_Mutation_p.A109V NM_001145159.2 NP_001138631.1 Q9NV88 INT9_HUMAN integrator complex subunit 9 109 snRNA processing integrator complex protein binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2) 19 Ovarian(32;0.0439) KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152) GTATGGCAGCGCCATCATACA 0.493000 13 53 0 0 0.001855 0 0 PCDHB5 26167 broad.mit.edu 37 5 140515200 140515200 + Missense_Mutation SNP C C T TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr5:140515200C>T ENST00000231134.5 + 1 401 c.184C>T c.(184-186)Cgg>Tgg p.R62W NM_015669.2 NP_056484.1 Q9Y5E4 PCDB5_HUMAN 62 Cadherin 1. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 81 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ACTGGCCACTCGGGGCGCGCG 0.488000 9 96 0 0 0.006214 0 0 RGPD3 653489 broad.mit.edu 37 2 107049681 107049681 + Missense_Mutation SNP T T C TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr2:107049681T>C ENST00000409886.3 - 16 2353 c.2266A>G c.(2266-2268)Aac>Gac p.N756D RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D NM_001144013.1 NP_001137485.1 A6NKT7 RGPD3_HUMAN RANBP2-like and GRIP domain containing 3 756 intracellular transport binding p.N756D(6) breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2) 71 TCACTATAGTTTTCGAGTTCC 0.373000 6 569 0 0 0.001168 0 0 SLC35E3 55508 broad.mit.edu 37 12 69140310 69140310 + Silent SNP C C T TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr12:69140310C>T ENST00000398004.2 + 1 425 c.153C>T c.(151-153)ttC>ttT p.F51F NM_018656.2 NP_061126.2 Q7Z769 S35E3_HUMAN solute carrier family 35, member E3 51 integral to membrane cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 12 Breast(13;2.31e-06)|Renal(347;0.0684) Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00372) TGGTGCACTTCGTGGTCACCT 0.552000 21 323 0 0 0.002299 0 0 XIRP1 165904 broad.mit.edu 37 3 39227951 39227951 + Missense_Mutation SNP G G C TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr3:39227951G>C ENST00000340369.3 - 2 3214 c.2986C>G c.(2986-2988)Cag>Gag p.Q996E XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Missense_Mutation_p.Q996E NM_194293.2 NP_919269.2 Q702N8 XIRP1_HUMAN xin actin-binding repeat containing 1 996 actin binding breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6) 71 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) CCAATGGCCTGAGGAGGGCAA 0.592000 16 87 0 0 0.004990 0 0 EPS8L2 64787 broad.mit.edu 37 11 722438 722438 + Missense_Mutation SNP C C G TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr11:722438C>G ENST00000533256.1 + 14 1472 c.1097C>G c.(1096-1098)tCc>tGc p.S366C AP006621.9_ENST00000527021.2_RNA|EPS8L2_ENST00000318562.8_Missense_Mutation_p.S366C|EPS8L2_ENST00000526198.1_Missense_Mutation_p.S382C|EPS8L2_ENST00000530636.1_Missense_Mutation_p.S366C Q9H6S3 ES8L2_HUMAN EPS8-like 2 366 cytoplasm NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1) 13 all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136) all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703) ATCGCACGCTCCGTCTCCTGC 0.652000 16 63 0 0 0.004990 0 0 FBXO11 80204 broad.mit.edu 37 2 48063049 48063049 + Missense_Mutation SNP C C T TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr2:48063049C>T ENST00000403359.3 - 5 751 c.679G>A c.(679-681)Gaa>Aaa p.E227K FBXO11_ENST00000316377.4_Missense_Mutation_p.E143K|FBXO11_ENST00000402508.1_Missense_Mutation_p.E143K NM_001190274.1 NP_001177203.1 Q86XK2 FBX11_HUMAN F-box protein 11 227 ubiquitin-dependent protein catabolic process cytoplasm|nucleolus|ubiquitin ligase complex protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding p.0?(2) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 26 Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) TTTGGATGTTCATACTCTTCT 0.313000 """Mis, F, D""" DLBCL 17 72 0 0 0.007413 0 0 SLC2A1 6513 broad.mit.edu 37 1 43395366 43395366 + Silent SNP C C T TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr1:43395366C>T ENST00000426263.3 - 6 943 c.765G>A c.(763-765)aaG>aaA p.K255K SLC2A1_ENST00000475162.1_Intron|SLC2A1_ENST00000415851.2_Intron NM_006516.2 NP_006507.2 P11166 GTR1_HUMAN solute carrier family 2 (facilitated glucose transporter), member 1 255 carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process integral to membrane|melanosome|membrane fraction|midbody D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2) 13 Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0122) Etomidate(DB00292) TGGTGACCTTCTTCTCCCGCA 0.622000 13 160 0 0 0.001368 0 0 IRS1 3667 broad.mit.edu 37 2 227660388 227660388 + Missense_Mutation SNP C C T TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr2:227660388C>T ENST00000305123.5 - 1 4087 c.3067G>A c.(3067-3069)Gag>Aag p.E1023K NM_005544.2 NP_005535.1 P35568 IRS1_HUMAN insulin receptor substrate 1 fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity caveola|cytosol|insulin receptor complex|microsome|nucleus insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2) 69 Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23) Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137) AGGCTCACCTCCTCTGCAGCA 0.627000 17 93 0 0 0.004007 0 0 PPP5C 5536 broad.mit.edu 37 19 46891833 46891833 + Silent SNP G G C TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr19:46891833G>C ENST00000012443.4 + 11 1303 c.1200G>C c.(1198-1200)cgG>cgC p.R400R PPP5C_ENST00000391919.1_Silent_p.R272R NM_006247.3 NP_006238.1 P53041 PPP5_HUMAN protein phosphatase 5, catalytic subunit 400 Catalytic. mitosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein dephosphorylation|transcription, DNA-dependent Golgi apparatus|nucleus metal ion binding|protein binding|protein serine/threonine phosphatase activity|signal transducer activity endometrium(4)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|pancreas(1) 18 Ovarian(192;0.0731)|all_neural(266;0.196) OV - Ovarian serous cystadenocarcinoma(262;0.000196)|all cancers(93;0.00192)|GBM - Glioblastoma multiforme(486;0.0499)|Epithelial(262;0.0504) TCAGCAAGCGGGGCGTGAGCT 0.617000 7 82 0 0 0.001984 0 0 UGT2B17 7367 broad.mit.edu 37 4 69433695 69433695 + Missense_Mutation SNP G G C TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr4:69433695G>C ENST00000317746.2 - 1 550 c.508C>G c.(508-510)Ctg>Gtg p.L170V NM_001077.3 NP_001068.1 O75795 UDB17_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B17 170 steroid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1) 30 AGACTGTACAGAAAGGGTATG 0.438000 20 377 0 0 0.001523 0 0 GPRASP1 9737 broad.mit.edu 37 X 101911836 101911836 + Missense_Mutation SNP G G A TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chrX:101911836G>A ENST00000537097.1 + 6 3808 c.2995G>A c.(2995-2997)Gag>Aag p.E999K GPRASP1_ENST00000415986.1_Missense_Mutation_p.E999K|GPRASP1_ENST00000361600.5_Missense_Mutation_p.E999K|GPRASP1_ENST00000444152.1_Missense_Mutation_p.E999K|RP4-769N13.7_ENST00000602441.1_RNA NM_001184727.1 NP_001171656.1 Q5JY77 GASP1_HUMAN G protein-coupled receptor associated sorting protein 1 999 OPRD1-binding. cytoplasm protein binding NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 TGATGAAGATGAGGCCATAGT 0.517000 26 66 0 0 0.005443 0 0 SEC24C 9632 broad.mit.edu 37 10 75530719 75530719 + Missense_Mutation SNP G G A TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr10:75530719G>A ENST00000339365.2 + 24 3313 c.3151G>A c.(3151-3153)Gtg>Atg p.V1051M SEC24C_ENST00000345254.4_Missense_Mutation_p.V1051M|SEC24C_ENST00000411652.2_Missense_Mutation_p.V932M|SEC24C_ENST00000540668.1_Missense_Mutation_p.V299M|SEC24C_ENST00000535742.1_Missense_Mutation_p.V299M NM_004922.3 NP_004913.2 P53992 SC24C_HUMAN SEC24 family member C 1051 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm protein binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 32 Prostate(51;0.0112) GTAGCTTACCGTGGTGAAACA 0.478000 15 174 0 0 0.002450 0 0 ARMC6 93436 broad.mit.edu 37 19 19168395 19168395 + Silent SNP C C G TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr19:19168395C>G ENST00000535612.1 + 9 1896 c.1464C>G c.(1462-1464)ctC>ctG p.L488L ARMC6_ENST00000546344.1_Silent_p.L395L|ARMC6_ENST00000392335.2_Silent_p.L463L|ARMC6_ENST00000392336.3_Silent_p.L488L|ARMC6_ENST00000269932.6_Silent_p.L463L NM_001199196.1 NP_001186125.1 Q6NXE6 ARMC6_HUMAN armadillo repeat containing 6 488 protein binding NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|prostate(1) 14 OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391) ATGTCGAGCTCCGAGAGCTGT 0.662000 13 64 0 0 0.001368 0 0 TSC2 7249 broad.mit.edu 37 16 2129298 2129298 + Silent SNP C C T TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr16:2129298C>T ENST00000219476.3 + 28 3783 c.3153C>T c.(3151-3153)ctC>ctT p.L1051L TSC2_ENST00000350773.4_Silent_p.L1051L|TSC2_ENST00000439673.2_Silent_p.L971L|TSC2_ENST00000382538.6_Silent_p.L959L|TSC2_ENST00000568366.1_3'UTR|TSC2_ENST00000568454.1_Silent_p.L1018L|TSC2_ENST00000401874.2_Silent_p.L1007L|TSC2_ENST00000353929.4_Silent_p.L1008L NM_000548.3 NP_000539.2 P49815 TSC2_HUMAN tuberous sclerosis 2 1051 cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex GTPase activator activity|protein homodimerization activity NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1) 56 Hepatocellular(780;0.0202) GCGAGTTCCTCCTAGCGGGTG 0.637000 """D, Mis, N, F, S""" """hamartoma, renal cell""" Tuberous Sclerosis 10 92 0 0 0.006214 0 0 NAB1 4664 broad.mit.edu 37 2 191524410 191524410 + Missense_Mutation SNP G G A TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr2:191524410G>A ENST00000337386.5 + 4 969 c.508G>A c.(508-510)Gag>Aag p.E170K NAB1_ENST00000409581.1_Missense_Mutation_p.E170K|NAB1_ENST00000409641.1_Missense_Mutation_p.E170K|NAB1_ENST00000357215.5_Missense_Mutation_p.E170K NM_005966.3 NP_005957.2 Q13506 NAB1_HUMAN NGFI-A binding protein 1 (EGR1 binding protein 1) 170 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(1) 7 OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0405)|all cancers(119;0.109) CACTGAGAGCGAGCACAGCCT 0.627000 12 32 0 0 0.000978 0 0 NCOR1 9611 broad.mit.edu 37 17 15968986 15968986 + Missense_Mutation SNP C C G TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr17:15968986C>G ENST00000268712.3 - 33 5021 c.4764G>C c.(4762-4764)caG>caC p.Q1588H NCOR1_ENST00000395857.3_Missense_Mutation_p.Q172H|NCOR1_ENST00000395851.1_Missense_Mutation_p.Q1604H NM_006311.3 NP_006302.2 O75376 NCOR1_HUMAN nuclear receptor corepressor 1 1588 Interaction with C1D (By similarity).|Interaction with ETO. cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter nuclear chromatin|spindle microtubule|transcriptional repressor complex histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10) 107 UCEC - Uterine corpus endometrioid carcinoma (92;0.101) AAAGCTGTCTCTGAAACAGGT 0.423000 10 54 0 0 0.006214 0 0 C3orf70 285382 broad.mit.edu 37 3 184801134 184801134 + Nonsense_Mutation SNP A A T TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr3:184801134A>T ENST00000335012.2 - 2 604 c.414T>A c.(412-414)tgT>tgA p.C138* NM_001025266.1 NP_001020437.1 A6NLC5 CC070_HUMAN chromosome 3 open reading frame 70 138 breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|urinary_tract(1) 13 TCCCATTAATACATTTAACCT 0.448000 16 107 0 0 0.003163 0 0 CLVS2 134829 broad.mit.edu 37 6 123319097 123319097 + Missense_Mutation SNP C C T TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr6:123319097C>T ENST00000275162.5 + 2 1510 c.175C>T c.(175-177)Cgg>Tgg p.R59W CLVS2_ENST00000368438.1_Intron NM_001010852.3 NP_001010852.2 Q5SYC1 CLVS2_HUMAN clavesin 2 lysosome organization clathrin-coated vesicle|early endosome membrane|trans-Golgi network phosphatidylinositol-3,5-bisphosphate binding|transporter activity breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 40 ACGCTTCTTGCGGGCTAGGAA 0.547000 5 160 0 0 0.000602 0 0 KHNYN 23351 broad.mit.edu 37 14 24906368 24906368 + Silent SNP C C G TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr14:24906368C>G ENST00000251343.5 + 8 2053 c.1914C>G c.(1912-1914)ctC>ctG p.L638L KHNYN_ENST00000556842.1_Silent_p.L638L|KHNYN_ENST00000554268.1_Silent_p.L83L|KHNYN_ENST00000553935.1_Silent_p.L638L O15037 KHNYN_HUMAN KH and NYN domain containing 638 kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3) 24 CAGAGCGGCTCCGGCGGCAGC 0.567000 OREG0022628 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 16 149 0 0 0.004990 0 0 PHKA2 5256 broad.mit.edu 37 X 18936890 18936890 + Silent SNP C C T TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chrX:18936890C>T ENST00000379942.4 - 19 2711 c.2046G>A c.(2044-2046)aaG>aaA p.K682K NM_000292.2 NP_000283.1 P46019 KPB2_HUMAN phosphorylase kinase, alpha 2 (liver) 682 glucose metabolic process|glycogen catabolic process cytosol|phosphorylase kinase complex|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 61 Hepatocellular(33;0.183) CTTCTGTGTTCTTACAAAGAG 0.448000 25 59 0 0 0.003954 0 0 ZNF283 284349 broad.mit.edu 37 19 44351804 44351804 + Missense_Mutation SNP G G C TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr19:44351804G>C ENST00000324461.7 + 7 1348 c.1051G>C c.(1051-1053)Gaa>Caa p.E351Q ZNF283_ENST00000588797.1_Missense_Mutation_p.E212Q NM_181845.1 NP_862828.1 Q8N7M2 ZN283_HUMAN zinc finger protein 283 351 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|large_intestine(3)|lung(4) 8 Prostate(69;0.0352) TAAATGTAAAGAATGTGGGAA 0.378000 16 129 0 0 0.004007 0 0 NAB1 4664 broad.mit.edu 37 2 191524203 191524203 + Missense_Mutation SNP G G C TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr2:191524203G>C ENST00000337386.5 + 4 762 c.301G>C c.(301-303)Gag>Cag p.E101Q NAB1_ENST00000409581.1_Missense_Mutation_p.E101Q|NAB1_ENST00000409641.1_Missense_Mutation_p.E101Q|NAB1_ENST00000357215.5_Missense_Mutation_p.E101Q NM_005966.3 NP_005957.2 Q13506 NAB1_HUMAN NGFI-A binding protein 1 (EGR1 binding protein 1) 101 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(1) 7 OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0405)|all cancers(119;0.109) TAAATTACCAGAGGGATCACC 0.483000 15 54 0 0 0.006122 0 0 PRMT8 56341 broad.mit.edu 37 12 3649787 3649787 + Missense_Mutation SNP T T C TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr12:3649787T>C ENST00000382622.3 + 2 481 c.91T>C c.(91-93)Tcc>Ccc p.S31P PRMT8_ENST00000261252.4_3'UTR|PRMT8_ENST00000452611.2_Missense_Mutation_p.S22P NM_019854.4 NP_062828.3 Q9NR22 ANM8_HUMAN protein arginine methyltransferase 8 31 regulation of protein binding cytoplasm|plasma membrane histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264) CAGCCCCCCCTCCCAGCCCCC 0.652000 10 163 0 0 0.001523 0 0 MMP24 10893 broad.mit.edu 37 20 33842328 33842328 + Silent SNP G G A TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr20:33842328G>A ENST00000246186.6 + 4 673 c.588G>A c.(586-588)caG>caA p.Q196Q EDEM2_ENST00000540582.1_Intron|MMP24-AS1_ENST00000454184.1_RNA|MMP24-AS1_ENST00000456350.1_RNA|MMP24-AS1_ENST00000566203.2_RNA|MMP24-AS1_ENST00000438751.1_RNA|MMP24-AS1_ENST00000433764.1_RNA NM_006690.3 NP_006681.1 Q9Y5R2 MMP24_HUMAN matrix metallopeptidase 24 (membrane-inserted) 196 proteolysis integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5) 14 BRCA - Breast invasive adenocarcinoma(18;0.00252) ATGTGTGGCAGAAGGTGACCC 0.493000 145 302 0 0 0.003610 0 0 PPP2R5D 5528 broad.mit.edu 37 6 42978997 42978997 + Silent SNP C C T TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr6:42978997C>T ENST00000485511.1 + 16 1961 c.1782C>T c.(1780-1782)ttC>ttT p.F594F PPP2R5D_ENST00000472118.1_Silent_p.F586F|PPP2R5D_ENST00000394110.3_Silent_p.F562F|PPP2R5D_ENST00000461010.1_Silent_p.F488F NM_001270476.1|NM_006245.3 NP_001257405.1|NP_006236.1 Q14738 2A5D_HUMAN protein phosphatase 2, regulatory subunit B', delta 594 nervous system development|signal transduction cytoplasm|nucleus|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 25 Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188) CGGAAGAGTTCCTAACTGCCA 0.617000 8 83 0 0 0.006214 0 0 RHOB 388 broad.mit.edu 37 2 20647740 20647740 + Missense_Mutation SNP G G A TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr2:20647740G>A ENST00000272233.4 + 1 906 c.514G>A c.(514-516)Gag>Aag p.E172K NM_004040.2 NP_004031.1 P62745 RHOB_HUMAN ras homolog family member B 172 angiogenesis|axon guidance|cell adhesion|endosome to lysosome transport|negative regulation of cell cycle|platelet activation|positive regulation of angiogenesis|protein transport|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|transformed cell apoptosis cytosol|late endosome membrane|nucleus|plasma membrane GTP binding|GTPase activity|protein binding breast(1)|kidney(1)|lung(2)|ovary(1)|urinary_tract(2) 7 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) all_epithelial(98;4.19e-09)|Lung NSC(108;0.00452)|Ovarian(717;0.0164) OV - Ovarian serous cystadenocarcinoma(76;1.14e-22)|Epithelial(75;7.84e-19) CGAGGTCTTCGAGACGGCCAC 0.687000 29 163 0 0 0.001786 0 0 SMG1 23049 broad.mit.edu 37 16 18850010 18850010 + Splice_Site SNP G G C TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr16:18850010G>C ENST00000446231.2 - 43 7359 c.6947C>G c.(6946-6948)tCt>tGt p.S2316C SMG1_ENST00000389467.3_Splice_Site_p.S2316C Q96Q15 SMG1_HUMAN SMG1 phosphatidylinositol 3-kinase-related kinase 2316 PI3K/PI4K. DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation cytoplasm|nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1) 92 TCTTGCATAAGACTAAAGGAA 0.388000 6 79 0 0 0.001168 0 0 FKRP 79147 broad.mit.edu 37 19 47259707 47259707 + Missense_Mutation SNP G G A TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr19:47259707G>A ENST00000318584.5 + 4 1297 c.1000G>A c.(1000-1002)Gag>Aag p.E334K FKRP_ENST00000600646.1_Intron|FKRP_ENST00000391909.3_Missense_Mutation_p.E334K NM_001039885.2|NM_024301.4 NP_001034974.1|NP_077277.1 Q9H9S5 FKRP_HUMAN fukutin related protein 334 extracellular space|Golgi apparatus|rough endoplasmic reticulum|sarcolemma transferase activity NS(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 7 all_epithelial(76;5.08e-05)|Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212) OV - Ovarian serous cystadenocarcinoma(262;0.000541)|all cancers(93;0.00128)|Epithelial(262;0.0207)|GBM - Glioblastoma multiforme(486;0.0336) GGGCGTGCTGGAGGCTGCGGG 0.731000 3 11 0 0 0.000602 0 0 SSUH2 51066 broad.mit.edu 37 3 8675375 8675375 + Silent SNP G G A TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr3:8675375G>A ENST00000317371.4 - 11 1475 c.250C>T c.(250-252)Ctg>Ttg p.L84L SSUH2_ENST00000415132.1_Silent_p.L84L|SSUH2_ENST00000544814.1_Silent_p.L106L|SSUH2_ENST00000341795.3_Silent_p.L84L ssu-2 homolog (C. elegans) TGCCGCTTCAGCTCCTGGATG 0.672000 12 26 0 0 0.001368 0 0 MX2 4600 broad.mit.edu 37 21 42748911 42748911 + Missense_Mutation SNP G G A TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr21:42748911G>A ENST00000330714.3 + 2 262 c.78G>A c.(76-78)atG>atA p.M26I MX2_ENST00000543692.1_Missense_Mutation_p.M26I NM_002463.1 NP_002454.1 P20592 MX2_HUMAN myxovirus (influenza virus) resistance 2 (mouse) 26 response to virus|type I interferon-mediated signaling pathway cytoplasm|nucleus GTP binding|GTPase activity breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 34 Prostate(19;1.57e-07)|all_epithelial(19;0.0222) AAAAAGAAATGAATTCCTTCC 0.517000 12 163 0 0 0.001368 0 0 CES3 23491 broad.mit.edu 37 16 66998347 66998347 + Silent SNP C C T TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr16:66998347C>T ENST00000303334.4 + 5 719 c.648C>T c.(646-648)ttC>ttT p.F216F CES3_ENST00000394037.1_Silent_p.F216F NM_024922.5 NP_079198.2 Q6UWW8 EST3_HUMAN carboxylesterase 3 216 endoplasmic reticulum lumen carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity p.F216F(1) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1) 24 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127) TCGCCCCCTTCGGGGGTGACC 0.577000 15 51 0 0 0.004007 0 0 ERBB2 2064 broad.mit.edu 37 17 37866078 37866078 + Missense_Mutation SNP C C T TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr17:37866078C>T ENST00000406381.2 + 7 1007 c.497C>T c.(496-498)tCt>tTt p.S166F ERBB2_ENST00000541774.1_Missense_Mutation_p.S181F|ERBB2_ENST00000445658.2_Intron|ERBB2_ENST00000578199.1_Missense_Mutation_p.S166F|ERBB2_ENST00000540042.1_Missense_Mutation_p.S166F|ERBB2_ENST00000584601.1_Missense_Mutation_p.S166F|ERBB2_ENST00000269571.5_Missense_Mutation_p.S196F|ERBB2_ENST00000540147.1_Missense_Mutation_p.S166F|ERBB2_ENST00000584450.1_Missense_Mutation_p.S196F NM_001005862.1 NP_001005862.1 P04626 ERBB2_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 196 cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4) 247 all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) Ovarian(249;0.0547)|Colorectal(1115;0.234) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171) UCEC - Uterine corpus endometrioid carcinoma (308;0.0767) Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072) CACCCCTGTTCTCCGATGTGT 0.587000 1 """A, Mis, O""" """breast, ovarian, other tumour types, NSCLC, gastric""" TCGA GBM(5;<1E-08) 16 46 0 0 0.004007 0 0 FLT1 2321 broad.mit.edu 37 13 28913371 28913371 + Missense_Mutation SNP C C T TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr13:28913371C>T ENST00000282397.4 - 17 2673 c.2422G>A c.(2422-2424)Gag>Aag p.E808K FLT1_ENST00000540678.1_Missense_Mutation_p.E26K NM_002019.4 NP_002010.2 P17948 VGFR1_HUMAN fms-related tyrosine kinase 1 808 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) TCACACTGCTCATCCAAAGGA 0.408000 5 62 0 0 0.001168 0 0 KIF16B 55614 broad.mit.edu 37 20 16316645 16316645 + Missense_Mutation SNP C C T TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr20:16316645C>T ENST00000354981.2 - 24 3794 c.3637G>A c.(3637-3639)Gag>Aag p.E1213K KIF16B_ENST00000378003.2_Missense_Mutation_p.E398K|KIF16B_ENST00000355755.3_Intron NM_001199865.1|NM_024704.4 NP_001186794.1|NP_078980.3 Q96L93 KI16B_HUMAN kinesin family member 16B 1213 PX. cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling early endosome membrane|microtubule ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2) 74 GTCCATGTCTCATCTAGGACA 0.294000 13 116 0 0 0.003163 0 0 FAM179B 23116 broad.mit.edu 37 14 45494995 45494995 + Nonsense_Mutation SNP C C G TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr14:45494995C>G ENST00000361462.2 + 8 3431 c.3248C>G c.(3247-3249)tCa>tGa p.S1083* FAM179B_ENST00000382233.2_3'UTR|FAM179B_ENST00000361577.3_Nonsense_Mutation_p.S1083*|KLHL28_ENST00000553817.1_Intron Q9Y4F4 F179B_HUMAN family with sequence similarity 179, member B 1083 Ser-rich. binding endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 45 GGGTCATCATCAAATCCACAG 0.318000 12 90 0 0 0.001368 0 0 SLC24A4 123041 broad.mit.edu 37 14 92958550 92958550 + Missense_Mutation SNP C C T TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr14:92958550C>T ENST00000532405.1 + 16 1908 c.1682C>T c.(1681-1683)tCc>tTc p.S561F SLC24A4_ENST00000531433.1_Missense_Mutation_p.S542F|SLC24A4_ENST00000393265.2_Missense_Mutation_p.S497F|SLC24A4_ENST00000298877.1_Missense_Mutation_p.S544F|SLC24A4_ENST00000351924.5_Missense_Mutation_p.S525F Q8NFF2 NCKX4_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 4 561 integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1) 36 all_cancers(154;0.0347)|all_epithelial(191;0.163) Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182) CTGGTCTATTCCGTGGTCCTG 0.512000 12 134 0 0 0.000978 0 0 MTRF1 9617 broad.mit.edu 37 13 41834938 41834938 + Missense_Mutation SNP C C G TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr13:41834938C>G ENST00000379480.4 - 2 206 c.106G>C c.(106-108)Gat>Cat p.D36H MTRF1_ENST00000239852.6_5'UTR|MTRF1_ENST00000379477.1_Missense_Mutation_p.D36H|MTRF1_ENST00000430347.2_Missense_Mutation_p.D49H NM_004294.2 NP_004285.2 O75570 RF1M_HUMAN mitochondrial translational release factor 1 36 regulation of translational termination mitochondrion translation release factor activity, codon specific breast(1)|endometrium(4)|large_intestine(3)|lung(6) 14 Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)|Ovarian(182;0.125) OV - Ovarian serous cystadenocarcinoma(117;4.24e-10)|all cancers(112;2.05e-09)|Epithelial(112;2.48e-09)|GBM - Glioblastoma multiforme(144;0.00115)|BRCA - Breast invasive adenocarcinoma(63;0.0721)|KIRC - Kidney renal clear cell carcinoma(186;0.248) AGCCTTGTATCAAGATGTATC 0.398000 26 115 0 0 0.003330 0 0 MUC5B 727897 broad.mit.edu 37 11 1266085 1266085 + Missense_Mutation SNP C C G TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr11:1266085C>G ENST00000447027.1 + 31 8042 c.7984C>G c.(7984-7986)Ccc>Gcc p.P2662A RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Missense_Mutation_p.P2659A Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 2659 11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich. Missing (in Ref. 6; AAB61398). cell adhesion extracellular region extracellular matrix structural constituent|protein binding p.P2638A(1) cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) CACCCACACCCCCACAGTGCT 0.617000 4 91 0 0 0.000248 0 0 DLG1 1739 broad.mit.edu 37 3 196812455 196812455 + Missense_Mutation SNP G G A TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr3:196812455G>A ENST00000346964.2 - 17 2122 c.1933C>T c.(1933-1935)Cgc>Tgc p.R645C DLG1_ENST00000448528.2_Missense_Mutation_p.R645C|DLG1_ENST00000443183.1_Missense_Mutation_p.R529C|DLG1_ENST00000452595.1_Missense_Mutation_p.R529C|DLG1_ENST00000314062.3_Missense_Mutation_p.R594C|DLG1_ENST00000422288.1_Missense_Mutation_p.R594C|DLG1_ENST00000450955.1_Missense_Mutation_p.R612C|DLG1_ENST00000392382.2_Missense_Mutation_p.R612C|DLG1_ENST00000357674.4_Missense_Mutation_p.R612C|DLG1_ENST00000419354.1_Missense_Mutation_p.R645C NM_004087.2 NP_004078.2 Q12959 DLG1_HUMAN discs, large homolog 1 (Drosophila) 645 SH3. actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 26 all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589) Lung NSC(153;0.133) Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.0148) GCATACCTGCGTTTACTGGGA 0.408000 31 165 0 0 0.002836 0 0 TMEM175 84286 broad.mit.edu 37 4 941638 941638 + Silent SNP C C T TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr4:941638C>T ENST00000264771.4 + 2 296 c.111C>T c.(109-111)ctC>ctT p.L37L TMEM175_ENST00000508204.1_Intron|TMEM175_ENST00000515740.1_Intron NM_032326.2 NP_115702.1 Q9BSA9 TM175_HUMAN transmembrane protein 175 37 integral to membrane NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3) 14 OV - Ovarian serous cystadenocarcinoma(23;0.0158) AACGCATGCTCAGCTTCAGTG 0.682000 11 84 0 0 0.000978 0 0 ARHGEF16 27237 broad.mit.edu 37 1 3390080 3390080 + Silent SNP G G A TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr1:3390080G>A ENST00000378378.4 + 8 1704 c.1299G>A c.(1297-1299)ctG>ctA p.L433L ARHGEF16_ENST00000413250.2_Silent_p.L137L|ARHGEF16_ENST00000378373.1_Silent_p.L145L|ARHGEF16_ENST00000378371.2_Silent_p.L145L NM_014448.3 NP_055263.2 Q5VV41 ARHGG_HUMAN Rho guanine nucleotide exchange factor (GEF) 16 433 DH.|Required for RHOG activation and mediates interaction with EPHA2. activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction cytosol PDZ domain binding|receptor tyrosine kinase binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity lung(6)|ovary(1) 7 all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101) all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211) Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201) TGCCCCTCCTGATGGATGTAA 0.677000 22 86 0 0 0.003330 0 0 ANKRD20A8P 729171 broad.mit.edu 37 2 95522786 95522786 + RNA SNP T T C TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr2:95522786T>C ENST00000432432.2 - 0 241 NR_040113.1 p.K44K(1) CGGCGTCGCCTTTGACAGCTG 0.687000 7 109 0 0 0.008291 0 0 FLG2 388698 broad.mit.edu 37 1 152326888 152326888 + Missense_Mutation SNP G G C rs112104081 TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr1:152326888G>C ENST00000388718.5 - 3 3446 c.3374C>G c.(3373-3375)tCt>tGt p.S1125C FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 1125 Ser-rich. calcium ion binding|structural molecule activity NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) AAAGCCAGAAGACTGACCTGA 0.512000 71 469 0 0 0.003610 0 0 KIAA1524 57650 broad.mit.edu 37 3 108295194 108295194 + Splice_Site SNP C C T TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr3:108295194C>T ENST00000295746.8 - 8 895 c.e8-1 KIAA1524_ENST00000487834.1_Splice_Site|KIAA1524_ENST00000491772.1_Splice_Site NM_020890.2 NP_065941.2 Q8TCG1 CIP2A_HUMAN KIAA1524 cytoplasm|integral to membrane protein binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 GTGCTCATATCTAGGTTTAGA 0.264000 12 102 0 0 0.001855 0 0 FAT4 79633 broad.mit.edu 37 4 126238718 126238718 + Silent SNP C C T TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr4:126238718C>T ENST00000394329.3 + 1 1165 c.1152C>T c.(1150-1152)gaC>gaT p.D384D NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 384 Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 CCGTGACGGACGCAGATTCTC 0.597000 OREG0016317 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 42 0 0 0.001984 0 0 ERBB3 2065 broad.mit.edu 37 12 56492623 56492623 + Missense_Mutation SNP G G C TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr12:56492623G>C ENST00000267101.3 + 23 3213 c.2773G>C c.(2773-2775)Gag>Cag p.E925Q ERBB3_ENST00000450146.2_Missense_Mutation_p.E282Q|ERBB3_ENST00000553131.1_Missense_Mutation_p.E166Q|ERBB3_ENST00000549832.1_Missense_Mutation_p.E45Q|ERBB3_ENST00000415288.2_Missense_Mutation_p.E866Q NM_001982.3 NP_001973.2 P21860 ERBB3_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3 925 Protein kinase. cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1) 8 OV - Ovarian serous cystadenocarcinoma(18;0.112) AGACCTGCTAGAGAAGGGGGA 0.527000 22 111 0 0 0.001882 0 0 TTN 7273 broad.mit.edu 37 2 179449901 179449901 + Missense_Mutation SNP G G C TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr2:179449901G>C ENST00000589042.1 - 309 64794 c.64570C>G c.(64570-64572)Ctg>Gtg p.L21524V TTN_ENST00000359218.5_Missense_Mutation_p.L12584V|TTN_ENST00000460472.2_Missense_Mutation_p.L12459V|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L12651V|TTN_ENST00000591111.1_Missense_Mutation_p.L19883V|TTN_ENST00000342992.6_Missense_Mutation_p.L18956V|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 19883 Fibronectin type-III 56. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTTATGATCAGAATTGAAGAG 0.433000 17 340 0 0 0.004007 0 0 WARS2 10352 broad.mit.edu 37 1 119619202 119619202 + Missense_Mutation SNP C C T TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr1:119619202C>T ENST00000369426.5 - 2 122 c.119G>A c.(118-120)gGc>gAc p.G40D WARS2_ENST00000537870.1_5'UTR|WARS2_ENST00000235521.4_Missense_Mutation_p.G40D Q9UGM6 SYWM_HUMAN tryptophanyl tRNA synthetase 2, mitochondrial 40 tryptophanyl-tRNA aminoacylation mitochondrial matrix ATP binding|tryptophan-tRNA ligase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(2) 15 all_neural(166;0.187) all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564) Lung(183;0.0629) L-Tryptophan(DB00150) AGGTTGAATGCCGGAAAATAC 0.433000 5 282 0 0 0.001168 0 0 NUTM1 256646 broad.mit.edu 37 15 34648835 34648835 + Missense_Mutation SNP G G A TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr15:34648835G>A ENST00000537011.1 + 8 3008 c.2626G>A c.(2626-2628)Gat>Aat p.D876N NUTM1_ENST00000333756.4_Missense_Mutation_p.D848N|NUTM1_ENST00000438749.3_Missense_Mutation_p.D866N NM_001284292.1 NP_001271221.1 NUT midline carcinoma, family member 1 AGAAAGTGGTGATTCCACACT 0.517000 17 67 0 0 0.006122 0 0 TBP 6908 broad.mit.edu 37 6 170871046 170871046 + Silent SNP A A G rs10592951 TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr6:170871046A>G ENST00000392092.2 + 3 501 c.222A>G c.(220-222)caA>caG p.Q74Q TBP_ENST00000540980.1_Silent_p.Q54Q|TBP_ENST00000230354.6_Silent_p.Q74Q NM_003194.4 NP_003185.1 P20226 TBP_HUMAN TATA box binding protein 74 Poly-Gln. cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction transcription factor TFIIA complex|transcription factor TFIID complex repressing transcription factor binding|transcription regulatory region DNA binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1) 26 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591) agcaacagcaacagcagcagc 0.567000 5 100 0 0 0.004482 0 0 HTRA2 27429 broad.mit.edu 37 2 74757813 74757813 + Silent SNP C C G TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr2:74757813C>G ENST00000258080.3 + 2 1206 c.576C>G c.(574-576)ctC>ctG p.L192L HTRA2_ENST00000467961.1_3'UTR|HTRA2_ENST00000352222.3_Silent_p.L192L NM_013247.4 NP_037379.1 O43464 HTRA2_HUMAN HtrA serine peptidase 2 192 Serine protease. apoptosis|proteolysis|response to stress CD40 receptor complex|endoplasmic reticulum membrane|internal side of plasma membrane|mitochondrial intermembrane space|mitochondrial membrane|nucleus serine-type endopeptidase activity|unfolded protein binding endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 12 CCGATGGGCTCATTGTCACCA 0.597000 14 83 0 0 0.001855 0 0 GATA2 2624 broad.mit.edu 37 3 128200071 128200071 + Missense_Mutation SNP C C G TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr3:128200071C>G ENST00000341105.2 - 6 1565 c.1234G>C c.(1234-1236)Gag>Cag p.E412Q GATA2_ENST00000430265.2_Missense_Mutation_p.E398Q|GATA2_ENST00000489987.1_5'UTR|GATA2_ENST00000487848.1_Missense_Mutation_p.E412Q NM_032638.4 NP_116027.2 P23769 GATA2_HUMAN GATA binding protein 2 412 blood coagulation|negative regulation of fat cell differentiation|negative regulation of fat cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of Notch signaling pathway|phagocytosis|positive regulation of angiogenesis|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter nucleoplasm C2H2 zinc finger domain binding|chromatin binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1) 79 GBM - Glioblastoma multiforme(114;0.173) TCGAAGCACTCCGCCCCTTTC 0.572000 Mis AML(CML blast transformation) 23 105 0 0 0.001882 0 0 MYH9 4627 broad.mit.edu 37 22 36700135 36700135 + Missense_Mutation SNP C C T TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr22:36700135C>T ENST00000216181.5 - 19 2526 c.2296G>A c.(2296-2298)Ggt>Agt p.G766S NM_002473.4 NP_002464.1 P35579 MYH9_HUMAN myosin, heavy chain 9, non-muscle 766 Myosin head-like. actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3) 86 GCCAGCACACCGGCACGGAAG 0.597000 T ALK ALCL """Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome""" Hereditary Macrothrombocytopenia, MYH9-associated 15 65 0 0 0.003163 0 0 SLC6A4 6532 broad.mit.edu 37 17 28537652 28537652 + Missense_Mutation SNP C C G TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr17:28537652C>G ENST00000401766.2 - 10 1842 c.1330G>C c.(1330-1332)Gag>Cag p.E444Q SLC6A4_ENST00000261707.3_Missense_Mutation_p.E444Q P31645 SC6A4_HUMAN solute carrier family 6 (neurotransmitter transporter), member 4 444 response to toxin|serotonin uptake|thalamus development cytosol|endomembrane system|endosome membrane|membrane raft actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4) 25 Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832) ATCACCCCCTCCAAGCCTGCA 0.602000 17 125 0 0 0.008871 0 0 GBP4 115361 broad.mit.edu 37 1 89654439 89654439 + Missense_Mutation SNP C C G TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr1:89654439C>G ENST00000355754.6 - 8 1333 c.1236G>C c.(1234-1236)caG>caC p.Q412H NM_052941.4 NP_443173.2 Q96PP9 GBP4_HUMAN guanylate binding protein 4 412 cytoplasm GTP binding|GTPase activity central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1) 33 all cancers(265;0.00723)|Epithelial(280;0.0291) CCTCTTCATTCTGCAGCACAA 0.448000 30 312 0 0 0.002445 0 0 U2AF2 11338 broad.mit.edu 37 19 56171880 56171880 + Splice_Site SNP A A C TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr19:56171880A>C ENST00000450554.2 + 4 1189 c.e4-1 U2AF2_ENST00000308924.4_Splice_Site NM_001012478.1|NM_007279.2 NP_001012496.1|NP_009210.1 P26368 U2AF2_HUMAN U2 small nuclear RNA auxiliary factor 2 mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription nucleoplasm|spliceosomal complex enzyme binding|nucleotide binding|RNA binding p.?(2) biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2) 21 Colorectal(82;0.00244)|Ovarian(87;0.133) BRCA - Breast invasive adenocarcinoma(297;0.18) GBM - Glioblastoma multiforme(193;0.107) CACCTCCCCCAGTCGTTCCCC 0.637000 5 26 0 0 0.000978 0 0 METTL13 51603 broad.mit.edu 37 1 171759640 171759640 + Missense_Mutation SNP C C T TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr1:171759640C>T ENST00000361735.3 + 5 1624 c.1358C>T c.(1357-1359)gCg>gTg p.A453V METTL13_ENST00000362019.3_Missense_Mutation_p.A367V|METTL13_ENST00000458517.1_Missense_Mutation_p.A452V|METTL13_ENST00000367737.5_Missense_Mutation_p.A297V|METTL13_ENST00000466643.1_Intron NM_015935.4 NP_057019.3 Q8N6R0 MTL13_HUMAN methyltransferase like 13 453 methyltransferase activity|protein binding breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3) 41 CCTGCTGATGCGGAGGACCTC 0.532000 22 113 0 0 0.001523 0 0 NCKAP1 10787 broad.mit.edu 37 2 183822295 183822295 + Silent SNP G G A TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr2:183822295G>A ENST00000361354.4 - 19 2283 c.1911C>T c.(1909-1911)atC>atT p.I637I NCKAP1_ENST00000360982.2_Silent_p.I643I NM_013436.3 NP_038464.1 Q9Y2A7 NCKP1_HUMAN NCK-associated protein 1 apoptosis|central nervous system development integral to membrane|lamellipodium membrane protein binding breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2) 45 OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209) CTGCTTGACTGATAGTTTTGG 0.378000 24 117 0 0 0.003330 0 0 NTRK1 4914 broad.mit.edu 37 1 156851342 156851342 + Missense_Mutation SNP G G A TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr1:156851342G>A ENST00000368196.3 + 16 2401 c.2281G>A c.(2281-2283)Gag>Aag p.E761K NTRK1_ENST00000358660.3_Missense_Mutation_p.E764K|NTRK1_ENST00000392302.2_Missense_Mutation_p.E731K|NTRK1_ENST00000531606.1_3'UTR|NTRK1_ENST00000524377.1_Missense_Mutation_p.E767K NM_001012331.1 NP_001012331.1 P04629 NTRK1_HUMAN neurotrophic tyrosine kinase, receptor, type 1 767 Protein kinase. activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction endosome|integral to plasma membrane ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 74 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) Imatinib(DB00619) CTGGCAGCGGGAGCCCCAGCA 0.682000 T """TPM3, TPR, TFG""" papillary thyroid TSP Lung(10;0.080) 5 22 0 0 0.000602 0 0 GGT3P 2679 broad.mit.edu 37 22 18769145 18769145 + RNA SNP G G A TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr22:18769145G>A ENST00000412448.1 - 0 1141 TGAGGCTGCCGTTGTAGAAGG 0.612000 3 16 0 0 0.004672 0 0 CAPN1 823 broad.mit.edu 37 11 64977530 64977530 + Missense_Mutation SNP G G C TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr11:64977530G>C ENST00000527323.1 + 18 2145 c.1905G>C c.(1903-1905)atG>atC p.M635I CAPN1_ENST00000524773.1_Missense_Mutation_p.M635I|CAPN1_ENST00000279247.6_Missense_Mutation_p.M635I|CAPN1_ENST00000533129.1_Missense_Mutation_p.M635I|CAPN1_ENST00000533820.1_Missense_Mutation_p.M635I P07384 CAN1_HUMAN calpain 1, (mu/I) large subunit 635 Domain IV.|EF-hand 3. positive regulation of cell proliferation|proteolysis cytoplasm|plasma membrane calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|protein binding breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1) 13 Lung NSC(402;0.094)|Melanoma(852;0.16) Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813) CGGGCAGCATGAGTGCCTACG 0.642000 14 80 0 0 0.002450 0 0 TIE1 7075 broad.mit.edu 37 1 43788382 43788382 + Missense_Mutation SNP G G A TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr1:43788382G>A ENST00000372476.3 + 23 3485 c.3406G>A c.(3406-3408)Gag>Aag p.E1136K TIE1_ENST00000433781.2_Missense_Mutation_p.E781K NM_001253357.1|NM_005424.4 NP_001240286.1|NP_005415.1 P35590 TIE1_HUMAN tyrosine kinase with immunoglobulin-like and EGF-like domains 1 1136 mesoderm development integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 70 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) TGCCACAGCTGAGGAGGCCTG 0.577000 6 37 0 0 0.001168 0 0 RAB3D 9545 broad.mit.edu 37 19 11447899 11447899 + Missense_Mutation SNP G G C TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr19:11447899G>C ENST00000222120.3 - 2 437 c.177C>G c.(175-177)ttC>ttG p.F59L RAB3D_ENST00000589655.1_Missense_Mutation_p.F59L NM_004283.3 NP_004274.1 O95716 RAB3D_HUMAN RAB3D, member RAS oncogene family 59 exocytosis|protein transport|small GTPase mediated signal transduction plasma membrane GTP binding|GTPase activity cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|ovary(2) 14 TCTTGACCTTGAAATCGATGC 0.572000 49 332 0 0 0.003610 0 0 PTPLAD1 51495 broad.mit.edu 37 15 65849119 65849119 + Nonsense_Mutation SNP C C T TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr15:65849119C>T ENST00000261875.5 + 4 413 c.247C>T c.(247-249)Cag>Tag p.Q83* PTPLAD1_ENST00000562901.1_5'UTR|PTPLAD1_ENST00000442729.2_Intron|PTPLAD1_ENST00000568793.1_Nonsense_Mutation_p.Q58*|PTPLAD1_ENST00000566511.1_5'UTR|PTPLAD1_ENST00000566074.1_5'UTR|PTPLAD1_ENST00000569894.1_5'UTR|PTPLAD1_ENST00000565299.1_Nonsense_Mutation_p.Q121* NM_016395.2 NP_057479.2 Q9P035 HACD3_HUMAN protein tyrosine phosphatase-like A domain containing 1 83 CS. activation of JUN kinase activity|fatty acid biosynthetic process|I-kappaB kinase/NF-kappaB cascade|Rac protein signal transduction endoplasmic reticulum membrane|integral to membrane GTPase activator activity|lyase activity|protein binding NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|pancreas(1) 5 CATTACAGTACAGAAGAAAGT 0.468000 8 20 0 0 0.003080 0 0 CNNM4 26504 broad.mit.edu 37 2 97427798 97427798 + Silent SNP C C T TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr2:97427798C>T ENST00000377075.2 + 1 1160 c.1062C>T c.(1060-1062)ctC>ctT p.L354L NM_020184.3 NP_064569.3 Q6P4Q7 CNNM4_HUMAN cyclin M4 354 DUF21. biomineral tissue development|ion transport|response to stimulus|visual perception integral to membrane|plasma membrane breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2) 20 ATAATGACCTCGTGAAAGAGG 0.512000 19 105 0 0 0.007413 0 0 EEF1A2 1917 broad.mit.edu 37 20 62129078 62129078 + Silent SNP G G A TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr20:62129078G>A ENST00000217182.3 - 2 204 c.39C>T c.(37-39)atC>atT p.I13I EEF1A2_ENST00000298049.7_Silent_p.I13I NM_001958.3 NP_001949.1 Q05639 EF1A2_HUMAN eukaryotic translation elongation factor 1 alpha 2 13 nucleus GTP binding|GTPase activity|protein binding|translation elongation factor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1) 20 all_cancers(38;9.45e-12) BRCA - Breast invasive adenocarcinoma(10;1.22e-05) CCACGTGGCCGATGACCACGA 0.602000 22 192 0 0 0.001882 0 0 MEA1 4201 broad.mit.edu 37 6 42980214 42980214 + Nonsense_Mutation SNP C C T TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr6:42980214C>T ENST00000244711.3 - 4 706 c.552G>A c.(550-552)tgG>tgA p.W184* NM_014623.2 NP_055438.1 Q16626 MEA1_HUMAN male-enhanced antigen 1 184 cell differentiation|male gonad development|spermatogenesis protein binding central_nervous_system(1)|large_intestine(3)|lung(1)|skin(1) 6 Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188) GTGGTCACTTCCAGGCAGGGG 0.567000 24 352 0 0 0.002780 0 0 PPP2R5D 5528 broad.mit.edu 37 6 42974683 42974683 + Missense_Mutation SNP C C G TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr6:42974683C>G ENST00000485511.1 + 4 536 c.357C>G c.(355-357)atC>atG p.I119M PPP2R5D_ENST00000472118.1_Missense_Mutation_p.I111M|PPP2R5D_ENST00000394110.3_Missense_Mutation_p.I87M|PPP2R5D_ENST00000461010.1_Missense_Mutation_p.I13M NM_001270476.1|NM_006245.3 NP_001257405.1|NP_006236.1 Q14738 2A5D_HUMAN protein phosphatase 2, regulatory subunit B', delta 119 nervous system development|signal transduction cytoplasm|nucleus|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 25 Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188) AGCTGTTTATCCAGAAGCTAC 0.567000 25 251 0 0 0.003954 0 0 PTER 9317 broad.mit.edu 37 10 16547137 16547137 + Missense_Mutation SNP G G A TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr10:16547137G>A ENST00000378000.1 + 5 1063 c.817G>A c.(817-819)Gat>Aat p.D273N PTER_ENST00000423462.2_Intron|PTER_ENST00000298942.3_Missense_Mutation_p.D273N|PTER_ENST00000535784.2_Missense_Mutation_p.D273N NM_001001484.2|NM_001261838.1|NM_030664.4 NP_001001484.1|NP_001248767.1|NP_109589.2 Q96BW5 PTER_HUMAN phosphotriesterase related 273 catabolic process hydrolase activity, acting on ester bonds|zinc ion binding endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2) 15 TGACATGCCTGATGATAACAA 0.398000 22 151 0 0 0.003954 0 0 ZBTB20 26137 broad.mit.edu 37 3 114057927 114057927 + Missense_Mutation SNP G G C TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr3:114057927G>C ENST00000462705.1 - 12 2753 c.1932C>G c.(1930-1932)tgC>tgG p.C644W ZBTB20_ENST00000357258.3_Missense_Mutation_p.C644W|ZBTB20_ENST00000474710.1_Missense_Mutation_p.C717W|ZBTB20_ENST00000464560.1_Missense_Mutation_p.C644W|ZBTB20_ENST00000393785.2_Missense_Mutation_p.C644W|ZBTB20_ENST00000471418.1_Missense_Mutation_p.C644W|ZBTB20_ENST00000481632.1_Missense_Mutation_p.C644W NM_001164343.1 NP_001157815.1 Q9HC78 ZBT20_HUMAN zinc finger and BTB domain containing 20 717 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 48 LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191) GGCAGACGGAGCAGACGTAAG 0.587000 18 100 0 0 0.007413 0 0 CD82 3732 broad.mit.edu 37 11 44616272 44616272 + Missense_Mutation SNP C C G TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr11:44616272C>G ENST00000227155.4 + 3 308 c.60C>G c.(58-60)ttC>ttG p.F20L CD82_ENST00000342935.3_Missense_Mutation_p.F20L NM_002231.3 NP_002222.1 P27701 CD82_HUMAN CD82 molecule 20 integral to plasma membrane protein binding large_intestine(1)|ovary(1) 2 ACTTGATCTTCTTTGTAAGTA 0.547000 17 95 0 0 0.006122 0 0 LSM12 124801 broad.mit.edu 37 17 42117556 42117556 + Silent SNP G G A TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr17:42117556G>A ENST00000591247.1 - 4 649 c.327C>T c.(325-327)gtC>gtT p.V109V LSM12_ENST00000293406.3_Silent_p.V109V|LSM12_ENST00000585388.1_Silent_p.V109V NM_152344.3 NP_689557.1 Q3MHD2 LSM12_HUMAN LSM12 homolog (S. cerevisiae) 109 protein binding NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1) 6 Breast(137;0.0313)|Prostate(33;0.0861) BRCA - Breast invasive adenocarcinoma(366;0.115) CCTCTAGAGAGACACCAGCAC 0.537000 12 46 0 0 0.000978 0 0 C1orf65 164127 broad.mit.edu 37 1 223568356 223568356 + Missense_Mutation SNP G G C TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr1:223568356G>C ENST00000366875.3 + 1 1642 c.1539G>C c.(1537-1539)aaG>aaC p.K513N NM_152610.2 NP_689823.2 Q8N715 CA065_HUMAN chromosome 1 open reading frame 65 513 breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3) 29 GBM - Glioblastoma multiforme(131;0.0704) CGGATGAGAAGATCCGACAGG 0.582000 20 110 0 0 0.008871 0 0 SGK1 6446 broad.mit.edu 37 6 134492271 134492271 + Missense_Mutation SNP G G C TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr6:134492271G>C ENST00000367858.5 - 12 1810 c.1213C>G c.(1213-1215)Ctg>Gtg p.L405V SGK1_ENST00000528577.1_Missense_Mutation_p.L338V|SGK1_ENST00000367857.5_Missense_Mutation_p.L300V|SGK1_ENST00000413996.3_Missense_Mutation_p.L324V|SGK1_ENST00000237305.7_Missense_Mutation_p.L310V|SGK1_ENST00000475719.2_Missense_Mutation_p.L266V NM_001143676.1 NP_001137148.1 O00141 SGK1_HUMAN serum/glucocorticoid regulated kinase 1 310 AGC-kinase C-terminal. apoptosis|response to stress|sodium ion transport endoplasmic reticulum|nucleus|plasma membrane ATP binding|protein binding|protein serine/threonine kinase activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1) 46 Colorectal(23;0.221) OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847) GGCTTGTTCAGAATGTTGTCG 0.463000 9 112 0 0 0.008291 0 0 GGNBP2 79893 broad.mit.edu 37 17 34937960 34937960 + Nonsense_Mutation SNP C C T TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr17:34937960C>T ENST00000304718.4 + 9 1523 c.1207C>T c.(1207-1209)Caa>Taa p.Q403* NM_024835.3 NP_079111.1 Q9H3C7 GGNB2_HUMAN gametogenetin binding protein 2 403 cell differentiation|multicellular organismal development|spermatogenesis cytoplasmic membrane-bounded vesicle breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1) 38 Breast(25;0.00957)|Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0193) GGAAGTAAGCCAAGAGAAGGT 0.398000 13 75 0 0 0.001368 0 0 NAPG 8774 broad.mit.edu 37 18 10539786 10539786 + Nonsense_Mutation SNP C C T TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr18:10539786C>T ENST00000322897.6 + 6 355 c.286C>T c.(286-288)Cag>Tag p.Q96* NAPG_ENST00000542979.1_Nonsense_Mutation_p.Q14* NM_003826.2 NP_003817.1 Q99747 SNAG_HUMAN N-ethylmaleimide-sensitive factor attachment protein, gamma 96 cellular membrane fusion|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein complex assembly|protein stabilization membrane|membrane fraction|mitochondrion protein binding large_intestine(2)|lung(2) 4 AGAGGCCGTTCAGCTAATTGA 0.458000 12 86 0 0 0.001368 0 0 BCAS2 10286 broad.mit.edu 37 1 115118266 115118266 + Missense_Mutation SNP C C G TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr1:115118266C>G ENST00000369541.3 - 4 411 c.364G>C c.(364-366)Gag>Cag p.E122Q BCAS2_ENST00000485021.1_5'UTR NM_005872.2 NP_005863.1 O75934 SPF27_HUMAN breast carcinoma amplified sequence 2 122 mRNA processing|RNA splicing, via transesterification reactions nucleolus|spliceosomal complex protein binding biliary_tract(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4) 13 all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) TCCAGATTCTCAATTCTAACT 0.383000 25 121 0 0 0.003330 0 0 REG1B 5968 broad.mit.edu 37 2 79314684 79314684 + Missense_Mutation SNP G G C TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr2:79314684G>C ENST00000305089.3 - 2 135 c.55C>G c.(55-57)Ctg>Gtg p.L19V NM_006507.3 NP_006498.1 P48304 REG1B_HUMAN regenerating islet-derived 1 beta 19 cell proliferation extracellular region sugar binding central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 51 CCTTGGCTCAGAGACAGGAAC 0.473000 10 33 0 0 0.006214 0 0 MAB21L3 126868 broad.mit.edu 37 1 116663613 116663613 + Missense_Mutation SNP C C A TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr1:116663613C>A ENST00000369500.3 + 3 374 c.109C>A c.(109-111)Cat>Aat p.H37N NM_152367.2 NP_689580.2 Q8N8X9 MB213_HUMAN mab-21-like 3 (C. elegans) 37 breast(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|urinary_tract(1) 19 AGTCGTTCATCATTTGACCAC 0.468000 33 224 1.62565e-12 3.2078e-12 0.002445 1 0 FASTKD1 79675 broad.mit.edu 37 2 170387907 170387907 + Nonsense_Mutation SNP G G C TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr2:170387907G>C ENST00000453153.2 - 13 2628 c.2282C>G c.(2281-2283)tCa>tGa p.S761* FASTKD1_ENST00000453929.2_Nonsense_Mutation_p.S718*|FASTKD1_ENST00000495505.1_5'UTR NM_024622.3 NP_078898.3 Q53R41 FAKD1_HUMAN FAST kinase domains 1 761 apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3) 37 TTCGATATTTGATTCCCAGGG 0.348000 8 54 0 0 0.003080 0 0 C1orf194 127003 broad.mit.edu 37 1 109649635 109649635 + Missense_Mutation SNP G G T TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr1:109649635G>T ENST00000369949.4 - 3 451 c.272C>A c.(271-273)aCc>aAc p.T91N C1orf194_ENST00000369948.3_Missense_Mutation_p.T103N|C1orf194_ENST00000369945.3_Missense_Mutation_p.T64N NM_001122961.1 NP_001116433.1 Q5T5A4 CA194_HUMAN chromosome 1 open reading frame 194 103 large_intestine(2)|lung(2)|ovary(2) 6 TTACCTATAGGTATCCTGCGT 0.448000 20 152 2.4624e-09 4.77899e-09 0.008871 1 0 PRKAR2A 5576 broad.mit.edu 37 3 48789650 48789650 + Missense_Mutation SNP C C G TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr3:48789650C>G ENST00000265563.8 - 10 1289 c.1040G>C c.(1039-1041)aGa>aCa p.R347T PRKAR2A_ENST00000296446.8_Missense_Mutation_p.R325T|PRKAR2A_ENST00000454963.1_Missense_Mutation_p.R347T NM_004157.2 NP_004148.1 P13861 KAP2_HUMAN protein kinase, cAMP-dependent, regulatory, type II, alpha 347 activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport centrosome|cytosol|membrane fraction cAMP binding|cAMP-dependent protein kinase regulator activity SLC26A6/PRKAR2A(2) breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|ovary(1) 6 BRCA - Breast invasive adenocarcinoma(193;0.000176)|Kidney(197;0.00246)|KIRC - Kidney renal clear cell carcinoma(197;0.00261) TGAGGCAGCTCTGGGTTTGTT 0.428000 11 99 0 0 0.001855 0 0 SLC17A8 246213 broad.mit.edu 37 12 100813592 100813592 + Splice_Site SNP G G C TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr12:100813592G>C ENST00000323346.5 + 12 1738 c.e12-1 SLC17A8_ENST00000552697.1_Splice_Site|SLC17A8_ENST00000392989.3_Splice_Site NM_001145288.1|NM_139319.2 NP_001138760.1|NP_647480.1 Q8NDX2 VGLU3_HUMAN solute carrier family 17 (vesicular glutamate transporter), member 8 neurotransmitter transport|sensory perception of sound|sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 44 TCCTTATTTAGACCCGTGAAG 0.443000 10 63 0 0 0.006214 0 0 BMS1P20 96610 broad.mit.edu 37 22 22664186 22664186 + RNA SNP A A G TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr22:22664186A>G ENST00000426066.1 + 0 709 NR_027293.1 CAGATCAAGAAAGCACTCTGA 0.498000 4 170 0 0 0.001168 0 0 PDCL 5082 broad.mit.edu 37 9 125582724 125582724 + Silent SNP G G A TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr9:125582724G>A ENST00000259467.4 - 4 711 c.546C>T c.(544-546)gtC>gtT p.V182V NM_005388.4 NP_005379.3 Q13371 PHLP_HUMAN phosducin-like 182 signal transduction|visual perception endometrium(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1) 10 GAACCATGATGACAATGCTTT 0.468000 22 129 0 0 0.001882 0 0 PNMAL2 57469 broad.mit.edu 37 19 46997203 46997203 + Missense_Mutation SNP G G A TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr19:46997203G>A ENST00000599531.1 - 1 2552 c.1520C>T c.(1519-1521)tCg>tTg p.S507L PNMAL2_ENST00000377655.2_Intron|PNMAL2_ENST00000594749.1_Intron NM_020709.1 NP_065760.1 Q9ULN7 PNML2_HUMAN paraneoplastic Ma antigen family-like 2 507 central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4) 8 Ovarian(192;0.00965)|all_neural(266;0.0459) OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427) CTGTTCGTCCGAAGCCTCCTC 0.672000 14 114 0 0 0.002450 0 0 NUP155 9631 broad.mit.edu 37 5 37303498 37303498 + Missense_Mutation SNP C C G TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr5:37303498C>G ENST00000231498.3 - 28 3384 c.3181G>C c.(3181-3183)Gag>Cag p.E1061Q NUP155_ENST00000381843.2_Missense_Mutation_p.E1002Q|NUP155_ENST00000513532.1_Missense_Mutation_p.E997Q|NUP155_ENST00000502533.1_5'UTR NM_153485.1 NP_705618.1 O75694 NU155_HUMAN nucleoporin 155kDa 1061 carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear membrane|nuclear pore protein binding|structural constituent of nuclear pore|transporter activity endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 62 all_lung(31;0.000137) COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) AGATGTGGCTCCAGAAATGGA 0.343000 8 79 0 0 0.003080 0 0 GNAI2 2771 broad.mit.edu 37 3 50295089 50295089 + Missense_Mutation SNP C C G TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr3:50295089C>G ENST00000313601.6 + 8 1419 c.1035C>G c.(1033-1035)atC>atG p.I345M GNAI2_ENST00000491100.1_3'UTR|GNAI2_ENST00000536647.1_Missense_Mutation_p.I264M|GNAI2_ENST00000440628.1_Missense_Mutation_p.I293M|GNAI2_ENST00000266027.5_Missense_Mutation_p.I329M|GNAI2_ENST00000451956.1_Missense_Mutation_p.I308M|GNAI2_ENST00000422163.1_Missense_Mutation_p.I329M NM_002070.2 NP_002061.1 P04899 GNAI2_HUMAN guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2 345 adenosine receptor signaling pathway|cell cycle|cell division|gamma-aminobutyric acid signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|platelet activation|response to nutrient|synaptic transmission centrosome|heterotrimeric G-protein complex|midbody G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|liver(2)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 16 BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00571)|Kidney(197;0.00651) ATGTCATCATCAAGAACAACC 0.587000 7 76 0 0 0.004482 0 0 CDH13 1012 broad.mit.edu 37 16 83781740 83781740 + Silent SNP T T C TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr16:83781740T>C ENST00000566620.1 + 11 1856 c.1566T>C c.(1564-1566)ggT>ggC p.G522G RP11-298D21.1_ENST00000563981.1_RNA|CDH13_ENST00000428848.3_Silent_p.G483G|RP11-298D21.1_ENST00000569165.1_RNA|CDH13_ENST00000268613.10_Silent_p.G569G|RP11-298D21.1_ENST00000570056.1_RNA NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4 NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1 P55290 CAD13_HUMAN cadherin 13 522 Cadherin 4. adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding large_intestine(1) 1 all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09) COAD - Colon adenocarcinoma(5;0.0268) ACCCAGCAGGTTGGCTGAATA 0.468000 35 225 0 0 0.003755 0 0 TSC1 7248 broad.mit.edu 37 9 135776220 135776220 + Nonsense_Mutation SNP G G C rs118203706 TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr9:135776220G>C ENST00000298552.3 - 20 2728 c.2507C>G c.(2506-2508)tCa>tGa p.S836* TSC1_ENST00000440111.2_Nonsense_Mutation_p.S836*|TSC1_ENST00000545250.1_Nonsense_Mutation_p.S785* NM_000368.4|NM_001162426.1|NM_001162427.1 NP_000359.1|NP_001155898.1|NP_001155899.1 Q92574 TSC1_HUMAN tuberous sclerosis 1 836 activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus cell cortex|lamellipodium|membrane|TSC1-TSC2 complex chaperone binding|protein N-terminus binding p.?(1) NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 65 OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06) CTCACTGTTTGAGAGCTAACC 0.448000 """D, Mis, N, F, S""" """hamartoma, renal cell""" Tuberous Sclerosis 20 69 0 0 0.008871 0 0 MUC15 143662 broad.mit.edu 37 11 26587346 26587346 + Silent SNP C C T TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr11:26587346C>T ENST00000436318.2 - 2 274 c.141G>A c.(139-141)ggG>ggA p.G47G MUC15_ENST00000281268.8_Silent_p.G47G|ANO3_ENST00000531568.1_Intron|ANO3_ENST00000256737.3_Intron|MUC15_ENST00000529533.1_Silent_p.G47G|ANO3_ENST00000525139.1_Intron|MUC15_ENST00000527569.1_Silent_p.G47G|MUC15_ENST00000455601.2_Silent_p.G20G|ANO3_ENST00000537978.1_Intron Q8N387 MUC15_HUMAN mucin 15, cell surface associated 20 extracellular region|integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 25 TTCCATGGCTCCCCGATAGAA 0.333000 12 119 0 0 0.000978 0 0 APC 324 broad.mit.edu 37 5 112177901 112177901 + Nonsense_Mutation SNP C C T TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr5:112177901C>T ENST00000457016.1 + 16 6990 c.6610C>T c.(6610-6612)Cga>Tga p.R2204* CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Nonsense_Mutation_p.R2204*|APC_ENST00000508376.2_Nonsense_Mutation_p.R2204* P25054 APC_HUMAN adenomatous polyposis coli 2204 Ser-rich. canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity p.?(1) NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20) 3261 all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133) OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191) TGGAAAAGTTCGATCTAATTC 0.363000 12 """D, Mis, N, F, S""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis TSP Lung(16;0.13) 18 104 0 0 0.004990 0 0 ZNF814 730051 broad.mit.edu 37 19 58388326 58388326 + Missense_Mutation SNP G G A TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr19:58388326G>A ENST00000435989.2 - 2 355 c.121C>T c.(121-123)Cgt>Tgt p.R41C CTD-2583A14.9_ENST00000602124.1_3'UTR|ZNF814_ENST00000597832.1_Missense_Mutation_p.R41C|ZNF814_ENST00000596604.1_Missense_Mutation_p.R41C|ZNF814_ENST00000600634.1_Missense_Mutation_p.R41C|ZNF814_ENST00000597807.1_Missense_Mutation_p.R41C|ZNF814_ENST00000597342.1_Missense_Mutation_p.R70C|ZNF814_ENST00000595295.1_Intron NM_001144989.1 NP_001138461.1 B7Z6K7 ZN814_HUMAN zinc finger protein 814 41 KRAB. regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3) 25 GTCACATCACGGTACAGGCAT 0.493000 10 169 0 0 0.006214 0 0 PPP2R5D 5528 broad.mit.edu 37 6 42975720 42975720 + Silent SNP C C T TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr6:42975720C>T ENST00000485511.1 + 7 953 c.774C>T c.(772-774)ctC>ctT p.L258L PPP2R5D_ENST00000472118.1_Silent_p.L250L|PPP2R5D_ENST00000394110.3_Silent_p.L226L|PPP2R5D_ENST00000461010.1_Silent_p.L152L NM_001270476.1|NM_006245.3 NP_001257405.1|NP_006236.1 Q14738 2A5D_HUMAN protein phosphatase 2, regulatory subunit B', delta 258 nervous system development|signal transduction cytoplasm|nucleus|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 25 Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188) GGGACTTCCTCAAGACCATTT 0.552000 23 191 0 0 0.002780 0 0 NLRP7 199713 broad.mit.edu 37 19 55453094 55453094 + Missense_Mutation SNP G G A TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr19:55453094G>A ENST00000446217.1 - 4 472 c.70C>T c.(70-72)Cat>Tat p.H24Y NLRP7_ENST00000592784.1_5'UTR|NLRP7_ENST00000590030.1_5'UTR|NLRP7_ENST00000588756.1_5'UTR|NLRP7_ENST00000328092.5_5'UTR|NLRP7_ENST00000448121.2_5'UTR|NLRP7_ENST00000340844.2_5'UTR Q8WX94 NALP7_HUMAN NLR family, pyrin domain containing 7 0 DAPIN. ATP binding autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 73 GBM - Glioblastoma multiforme(193;0.0325) CTCCGAGTATGAGACCTTAGG 0.453000 8 58 0 0 0.003080 0 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274360 39274360 + Missense_Mutation SNP A A T TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr17:39274360A>T ENST00000391413.2 - 1 246 c.208T>A c.(208-210)Tgc>Agc p.C70S NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 70 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. Missing (in allele KAP4.14). keratin filament endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) CTGGAGATGCAGCATCTGGGG 0.667000 5 151 0 0 0.001984 0 0 SNED1 25992 broad.mit.edu 37 2 241991807 241991807 + Missense_Mutation SNP G G A TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr2:241991807G>A ENST00000310397.8 + 15 2005 c.2005G>A c.(2005-2007)Ggg>Agg p.G669R SNED1_ENST00000342631.6_Missense_Mutation_p.G669R|AC005237.4_ENST00000458377.1_RNA|SNED1_ENST00000401884.1_Missense_Mutation_p.G669R|SNED1_ENST00000405547.3_Missense_Mutation_p.G669R|SNED1_ENST00000469006.1_3'UTR NM_001080437.1 NP_001073906.1 Q8TER0 SNED1_HUMAN sushi, nidogen and EGF-like domains 1 669 EGF-like 10. cell-matrix adhesion extracellular region calcium ion binding NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1) 24 all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238) Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109) GTGTGTGAATGGGGGCACCTG 0.647000 10 37 0 0 0.001368 0 0 SPEN 23013 broad.mit.edu 37 1 16261743 16261743 + Missense_Mutation SNP C C T TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr1:16261743C>T ENST00000375759.3 + 11 9212 c.9008C>T c.(9007-9009)tCg>tTg p.S3003L NM_015001.2 NP_055816.2 Q96T58 MINT_HUMAN spen family transcriptional repressor 3003 interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 149 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) CATGTCCCCTCGGGGCCCAGC 0.607000 15 109 0 0 0.003163 0 0 CTNND2 1501 broad.mit.edu 37 5 11199687 11199687 + Silent SNP C C T TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr5:11199687C>T ENST00000304623.8 - 11 2037 c.1848G>A c.(1846-1848)ctG>ctA p.L616L CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000359640.2_Silent_p.L616L|CTNND2_ENST00000503622.1_Silent_p.L279L|CTNND2_ENST00000511377.1_Silent_p.L525L|CTNND2_ENST00000458100.2_Silent_p.L183L NM_001332.2 NP_001323.1 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 616 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 136 CCAGGTTTCTCAGAGCTCCAC 0.522000 27 187 0 0 0.004656 0 0 AKAP9 10142 broad.mit.edu 37 7 91730214 91730214 + Missense_Mutation SNP C C G TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr7:91730214C>G ENST00000359028.2 + 45 11178 c.10953C>G c.(10951-10953)atC>atG p.I3651M AKAP9_ENST00000356239.3_Missense_Mutation_p.I3647M|AKAP9_ENST00000358100.2_Missense_Mutation_p.I3597M Q99996 AKAP9_HUMAN A kinase (PRKA) anchor protein 9 3651 G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2) 155 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) TTGAAGCCATCATTGCCTCTG 0.403000 T BRAF papillary thyroid 14 111 0 0 0.002450 0 0 TBC1D2B 23102 broad.mit.edu 37 15 78290635 78290635 + Missense_Mutation SNP C C T rs117285325 by1000genomes TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr15:78290635C>T ENST00000409931.3 - 13 2778 c.2707G>A c.(2707-2709)Gac>Aac p.D903N TBC1D2B_ENST00000300584.3_Missense_Mutation_p.R920Q|TBC1D2B_ENST00000492078.1_5'UTR Q9UPU7 TBD2B_HUMAN TBC1 domain family, member 2B 0 intracellular protein binding|Rab GTPase activator activity p.D903N(3)|p.R920Q(1) breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 26 GTAGGCGCGTCGGTTCCGGAT 0.617000 3 19 0 0 0.001168 0 0 TRIM42 287015 broad.mit.edu 37 3 140401604 140401604 + Silent SNP C C A TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr3:140401604C>A ENST00000286349.3 + 2 833 c.642C>A c.(640-642)ctC>ctA p.L214L NM_152616.4 NP_689829.3 Q8IWZ5 TRI42_HUMAN tripartite motif containing 42 214 intracellular zinc ion binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 ACGGGCGTCTCACCAAGCGCT 0.607000 23 168 3.62473e-10 7.05806e-10 0.001882 1 0 RECQL4 9401 broad.mit.edu 37 8 145737119 145737119 + Silent SNP C C T TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr8:145737119C>T ENST00000428558.2 - 21 3488 c.3447G>A c.(3445-3447)ctG>ctA p.L1149L RECQL4_ENST00000532237.1_5'UTR NM_004260.3 NP_004251.3 O94761 RECQ4_HUMAN RecQ protein-like 4 1149 DNA duplex unwinding|DNA recombination|DNA repair cytoplasm|nucleus ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 26 all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055) CCTCTGGCCTCAGGGACAGGA 0.672000 """N, F, S""" """osteosarcoma, skin basal and sqamous cell""" Genes defective in diseases associated with sensitivity to DNA damaging agents Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome 27 143 0 0 0.006320 0 0 ASTN1 460 broad.mit.edu 37 1 176934347 176934347 + Missense_Mutation SNP C C T TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr1:176934347C>T ENST00000367654.3 - 9 1785 c.1574G>A c.(1573-1575)cGa>cAa p.R525Q ASTN1_ENST00000424564.2_Missense_Mutation_p.R517Q|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000367657.3_Missense_Mutation_p.R517Q|ASTN1_ENST00000361833.2_Missense_Mutation_p.R517Q NM_004319.1 NP_004310.1 O14525 ASTN1_HUMAN astrotactin 1 cell migration|neuron cell-cell adhesion integral to membrane NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 GTCAAAGCCTCGCTGAAATAT 0.418000 14 100 0 0 0.002450 0 0 GNAS 2778 broad.mit.edu 37 20 57429130 57429130 + Missense_Mutation SNP G G C TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr20:57429130G>C ENST00000306120.3 + 1 620 c.620G>C c.(619-621)cGa>cCa p.R207P GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371102.4_Silent_p.A270A|GNAS_ENST00000371100.4_Silent_p.A270A|GNAS_ENST00000371098.2_Intron|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000371099.2_Silent_p.A270A P63092 GNAS2_HUMAN GNAS complex locus 0 activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1) 441 all_lung(29;0.0104) BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109) CTCCCGCCGCGAACGCGCCTC 0.687000 Mis pituitary adenoma """McCune-Albright syndrome; pseudohypoparathyroidism, type IA""" TSP Lung(22;0.16) 5 37 0 0 0.000602 0 0 LINC01317 104355287 broad.mit.edu 37 2 33952684 33952684 + RNA SNP G G A TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr2:33952684G>A ENST00000366209.2 + 0 68 MYADML_ENST00000474610.1_RNA GGGAACGGCCGTGGGACAGGA 0.647000 16 66 0 0 0.003163 0 0 PLA2G4C 8605 broad.mit.edu 37 19 48602975 48602975 + Missense_Mutation SNP G G C TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr19:48602975G>C ENST00000354276.3 - 5 727 c.400C>G c.(400-402)Ctg>Gtg p.L134V PLA2G4C_ENST00000413144.2_Missense_Mutation_p.L134V|PLA2G4C_ENST00000599921.1_Missense_Mutation_p.L134V|PLA2G4C_ENST00000599111.1_Missense_Mutation_p.L144V NM_001159323.1 NP_001152795.1 Q9UP65 PA24C_HUMAN phospholipase A2, group IVC (cytosolic, calcium-independent) 134 PLA2c. arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition cytosol|membrane calcium-independent phospholipase A2 activity|phospholipid binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3) 38 all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717) AAGTCGGTCAGAGAGTAATTC 0.527000 32 199 0 0 0.008361 0 0 CSE1L 1434 broad.mit.edu 37 20 47682988 47682988 + Missense_Mutation SNP G G C TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr20:47682988G>C ENST00000262982.2 + 5 540 c.417G>C c.(415-417)caG>caC p.Q139H CSE1L_ENST00000542325.1_Intron|CSE1L_ENST00000396192.3_Missense_Mutation_p.Q139H NM_001256135.1|NM_001316.3 NP_001243064.1|NP_001307.2 P55060 XPO2_HUMAN CSE1 chromosome segregation 1-like (yeast) 139 apoptosis|cell proliferation|intracellular protein transport cytoplasm|nucleus importin-alpha export receptor activity breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2) 35 BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198) ATCGCTTTCAGAGTGGAGATT 0.353000 13 95 0 0 0.001855 0 0 ZBTB47 92999 broad.mit.edu 37 3 42703079 42703079 + Missense_Mutation SNP G G C TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr3:42703079G>C ENST00000457842.3 + 3 1857 c.448G>C c.(448-450)Gag>Cag p.E150Q ZBTB47_ENST00000232974.6_Missense_Mutation_p.E526Q|ZBTB47_ENST00000505904.1_Missense_Mutation_p.E72Q NM_145166.3 NP_660149.2 Q9UFB7 ZBT47_HUMAN zinc finger and BTB domain containing 47 150 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(3)|ovary(1) 13 KIRC - Kidney renal clear cell carcinoma(284;0.216) CGAGATCTGTGAGAAGAAGTT 0.512000 13 65 0 0 0.001368 0 0 RAB3D 9545 broad.mit.edu 37 19 11447923 11447923 + Silent SNP G G A TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr19:11447923G>A ENST00000222120.3 - 2 413 c.153C>T c.(151-153)ttC>ttT p.F51F RAB3D_ENST00000589655.1_Silent_p.F51F NM_004283.3 NP_004274.1 O95716 RAB3D_HUMAN RAB3D, member RAS oncogene family 51 exocytosis|protein transport|small GTPase mediated signal transduction plasma membrane GTP binding|GTPase activity cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|ovary(2) 14 CAGTACTGACGAAGGCGGGAG 0.537000 55 351 0 0 0.003610 0 0 KRTAP10-1 386677 broad.mit.edu 37 21 45959752 45959752 + Silent SNP G G A TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr21:45959752G>A ENST00000400375.1 - 1 326 c.282C>T c.(280-282)ccC>ccT p.P94P TSPEAR_ENST00000397916.1_Intron|TSPEAR_ENST00000323084.4_Intron NM_198691.2 NP_941964.2 P60331 KR101_HUMAN keratin associated protein 10-1 94 24 X 5 AA repeats of C-C-X(3). keratin filament breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1) 11 cctgctggcagggggaggagg 0.662000 5 227 0 0 0.003080 0 0 RHOB 388 broad.mit.edu 37 2 20647689 20647689 + Missense_Mutation SNP G G C TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr2:20647689G>C ENST00000272233.4 + 1 855 c.463G>C c.(463-465)Gac>Cac p.D155H NM_004040.2 NP_004031.1 P62745 RHOB_HUMAN ras homolog family member B 155 angiogenesis|axon guidance|cell adhesion|endosome to lysosome transport|negative regulation of cell cycle|platelet activation|positive regulation of angiogenesis|protein transport|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|transformed cell apoptosis cytosol|late endosome membrane|nucleus|plasma membrane GTP binding|GTPase activity|protein binding breast(1)|kidney(1)|lung(2)|ovary(1)|urinary_tract(2) 7 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) all_epithelial(98;4.19e-09)|Lung NSC(108;0.00452)|Ovarian(717;0.0164) OV - Ovarian serous cystadenocarcinoma(76;1.14e-22)|Epithelial(75;7.84e-19) CCAAGCCTACGACTACCTCGA 0.682000 31 211 0 0 0.003271 0 0 STXBP5L 9515 broad.mit.edu 37 3 120871362 120871362 + Missense_Mutation SNP G G C TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr3:120871362G>C ENST00000273666.6 + 8 979 c.708G>C c.(706-708)tgG>tgC p.W236C STXBP5L_ENST00000492541.1_Missense_Mutation_p.W236C|STXBP5L_ENST00000497029.1_Missense_Mutation_p.W236C|STXBP5L_ENST00000471454.1_Missense_Mutation_p.W236C|STXBP5L_ENST00000472879.1_Missense_Mutation_p.W236C NM_014980.2 NP_055795.1 Q9Y2K9 STB5L_HUMAN syntaxin binding protein 5-like 236 exocytosis|protein transport cytoplasm|integral to membrane|plasma membrane NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 GBM - Glioblastoma multiforme(114;0.0694) TAGTATTCTGGGACTTGAAAT 0.313000 9 96 0 0 0.006214 0 0 TCN1 6947 broad.mit.edu 37 11 59622251 59622251 + Nonsense_Mutation SNP G G C TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr11:59622251G>C ENST00000257264.3 - 7 1099 c.995C>G c.(994-996)tCa>tGa p.S332* TCN1_ENST00000532419.1_5'UTR NM_001062.3 NP_001053.2 P20061 TCO1_HUMAN transcobalamin I (vitamin B12 binding protein, R binder family) 332 cobalamin metabolic process|cobalamin transport|cobalt ion transport extracellular region cobalamin binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 29 all_epithelial(135;0.198) Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) GGAGATATATGATTGTGAGTC 0.413000 15 100 0 0 0.002450 0 0 JAK2 3717 broad.mit.edu 37 9 5054847 5054847 + Missense_Mutation SNP G G A TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr9:5054847G>A ENST00000381652.3 + 7 1393 c.899G>A c.(898-900)aGa>aAa p.R300K JAK2_ENST00000544510.1_Missense_Mutation_p.R151K|JAK2_ENST00000539801.1_Missense_Mutation_p.R300K NM_004972.3 NP_004963.1 O60674 JAK2_HUMAN Janus kinase 2 300 FERM. actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein caveola|cytoskeleton|cytosol|endomembrane system|nucleus ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18) breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1) 32998 all_hematologic(13;0.137) Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147) GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133) CAGTGGTCAAGAGGGAAACAT 0.348000 1 """T, Mis, O""" """ETV6, PCM1, BCR""" """ALL, AML, MPD, CML""" Polycythemia Vera, Familial 9 50 0 0 0.004482 0 0 GNA13 10672 broad.mit.edu 37 17 63010910 63010910 + Missense_Mutation SNP C C G TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr17:63010910C>G ENST00000439174.2 - 4 844 c.599G>C c.(598-600)aGa>aCa p.R200T GNA13_ENST00000541118.1_Missense_Mutation_p.R105T NM_006572.4 NP_006563.2 Q14344 GNA13_HUMAN guanine nucleotide binding protein (G protein), alpha 13 200 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase D activity|cellular component movement|platelet activation|Rho protein signal transduction brush border membrane|heterotrimeric G-protein complex|melanosome D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity|type 1 angiotensin receptor binding p.R200K(1) breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(14)|kidney(2)|large_intestine(4)|lung(6)|urinary_tract(1) 34 GGTGGGTCTTCTGGCAAGCAG 0.358000 22 106 0 0 0.002299 0 0 SLAMF7 57823 broad.mit.edu 37 1 160721198 160721198 + Missense_Mutation SNP C C G TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr1:160721198C>G ENST00000368043.3 + 5 870 c.833C>G c.(832-834)tCt>tGt p.S278C SLAMF7_ENST00000441662.2_Missense_Mutation_p.S147C|SLAMF7_ENST00000458104.2_Intron|SLAMF7_ENST00000359331.4_Intron|SLAMF7_ENST00000458602.2_Missense_Mutation_p.S131C|SLAMF7_ENST00000368042.3_Missense_Mutation_p.S171C|SLAMF7_ENST00000444090.2_Intron NM_001282595.1|NM_021181.3 NP_001269524.1|NP_067004.3 Q9NQ25 SLAF7_HUMAN SLAM family member 7 278 cell adhesion|natural killer cell activation|natural killer cell mediated cytotoxicity integral to membrane receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(4) 24 all_cancers(52;2.63e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0175) TGCCCCCATTCTGGAGAGAAC 0.468000 25 160 0 0 0.007291 0 0 TPCN1 53373 broad.mit.edu 37 12 113710476 113710476 + Silent SNP C C T TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr12:113710476C>T ENST00000550785.1 + 9 1147 c.978C>T c.(976-978)ttC>ttT p.F326F TPCN1_ENST00000541517.1_Silent_p.F326F|TPCN1_ENST00000392569.4_Silent_p.F186F|TPCN1_ENST00000335509.6_Silent_p.F254F NM_001143819.1 NP_001137291.1 Q9ULQ1 TPC1_HUMAN two pore segment channel 1 254 endosome membrane|integral to membrane|lysosomal membrane NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1) 40 TCTACTTGTTCTCCCCTAACC 0.473000 79 1326 0 0 0.003610 0 0 BDH1 622 broad.mit.edu 37 3 197241175 197241175 + Silent SNP C C T TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr3:197241175C>T ENST00000392379.1 - 7 923 c.522G>A c.(520-522)cgG>cgA p.R174R BDH1_ENST00000441275.1_Silent_p.R87R|BDH1_ENST00000392378.2_Silent_p.R174R|BDH1_ENST00000358186.2_Silent_p.R174R NM_203314.2 NP_976059.1 Q02338 BDH_HUMAN 3-hydroxybutyrate dehydrogenase, type 1 174 cellular lipid metabolic process|ketone body biosynthetic process|ketone body catabolic process mitochondrial matrix 3-hydroxybutyrate dehydrogenase activity endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1) 11 all_cancers(143;3.35e-10)|Ovarian(172;0.0418)|Breast(254;0.0437) Lung NSC(153;0.118) Epithelial(36;3.52e-24)|all cancers(36;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-19)|LUSC - Lung squamous cell carcinoma(58;1.02e-06)|Lung(62;1.34e-06) GBM - Glioblastoma multiforme(93;0.0977) NADH(DB00157) ATTTCGTCATCCGCACTGTGC 0.572000 11 62 0 0 0.008291 0 0 PHACTR3 116154 broad.mit.edu 37 20 58318164 58318164 + Missense_Mutation SNP G G A rs149282803 TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr20:58318164G>A ENST00000371015.1 + 2 588 c.121G>A c.(121-123)Gag>Aag p.E41K PHACTR3_ENST00000395639.4_5'UTR|PHACTR3_ENST00000361300.4_5'UTR|PHACTR3_ENST00000541461.1_5'UTR|PHACTR3_ENST00000355648.4_5'UTR|PHACTR3_ENST00000359926.3_Missense_Mutation_p.E38K|PHACTR3_ENST00000395636.2_5'UTR NM_001281507.1|NM_080672.3 NP_001268436.1|NP_542403.1 Q96KR7 PHAR3_HUMAN phosphatase and actin regulator 3 41 nuclear matrix actin binding|protein phosphatase inhibitor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 59 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;2.76e-09) TCTTCCAGATGAGATGGACCA 0.587000 15 176 0 0 0.004990 0 0 KCNH3 23416 broad.mit.edu 37 12 49937815 49937815 + Missense_Mutation SNP C C T TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr12:49937815C>T ENST00000257981.6 + 6 1201 c.941C>T c.(940-942)gCg>gTg p.A314V NM_012284.1 NP_036416.1 Q9ULD8 KCNH3_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 3 314 regulation of transcription, DNA-dependent integral to membrane two-component sensor activity|voltage-gated potassium channel activity NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 36 GTCATCGCAGCGCTGCCCTTT 0.622000 17 157 0 0 0.004990 0 0 MGA 23269 broad.mit.edu 37 15 42041627 42041627 + Missense_Mutation SNP C C G TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr15:42041627C>G ENST00000219905.7 + 17 6003 c.5822C>G c.(5821-5823)tCt>tGt p.S1941C MGA_ENST00000570161.1_Missense_Mutation_p.S1941C|MGA_ENST00000566586.1_Missense_Mutation_p.S1732C|MGA_ENST00000389936.4_Missense_Mutation_p.S1902C|MGA_ENST00000545763.1_Missense_Mutation_p.S1732C NM_001164273.1 NP_001157745.1 Q8IWI9 MGAP_HUMAN MGA, MAX dimerization protein 1902 MLL1 complex DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238) OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235) CCTCTCCAGTCTGGTAGTTTT 0.448000 14 50 0 0 0.003163 0 0 MYH9 4627 broad.mit.edu 37 22 36717809 36717809 + Missense_Mutation SNP C C T TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr22:36717809C>T ENST00000216181.5 - 7 993 c.763G>A c.(763-765)Gag>Aag p.E255K NM_002473.4 NP_002464.1 P35579 MYH9_HUMAN myosin, heavy chain 9, non-muscle 255 Myosin head-like. actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3) 86 ATACAAGTCTCAATGTTGGCT 0.478000 T ALK ALCL """Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome""" Hereditary Macrothrombocytopenia, MYH9-associated 24 98 0 0 0.003954 0 0 HOOK3 84376 broad.mit.edu 37 8 42780704 42780704 + Missense_Mutation SNP C C G TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr8:42780704C>G ENST00000307602.4 + 3 348 c.148C>G c.(148-150)Cct>Gct p.P50A NM_032410.3 NP_115786.1 Q86VS8 HOOK3_HUMAN hook microtubule-tethering protein 3 50 Sufficient for interaction with microtubules. cytoplasmic microtubule organization|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|Golgi localization|interkinetic nuclear migration|lysosome organization|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome|protein transport cis-Golgi network|FHF complex|microtubule|pericentriolar material identical protein binding|microtubule binding NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 31 Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184) all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129) Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114) TTGCAGAGATCCTGCATATTT 0.294000 T RET papillary thyroid 12 62 0 0 0.001368 0 0 C17orf70 80233 broad.mit.edu 37 17 79507956 79507956 + Missense_Mutation SNP C C G TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr17:79507956C>G ENST00000537152.1 - 9 2607 c.2082G>C c.(2080-2082)caG>caC p.Q694H C17orf70_ENST00000425898.2_Missense_Mutation_p.Q494H|C17orf70_ENST00000327787.8_Missense_Mutation_p.Q845H NM_025161.5 NP_079437.5 Q0VG06 FP100_HUMAN chromosome 17 open reading frame 70 845 DNA repair cytoplasm|intermediate filament cytoskeleton|nucleoplasm DNA binding breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 19 all_neural(118;0.0878)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371) CGCGCAGGGTCTGCACCTCCC 0.682000 7 17 0 0 0.001984 0 0 SHPRH 257218 broad.mit.edu 37 6 146216072 146216072 + Silent SNP C C G TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr6:146216072C>G ENST00000367503.3 - 26 4967 c.4569G>C c.(4567-4569)ctG>ctC p.L1523L SHPRH_ENST00000438092.2_Silent_p.L1523L|SHPRH_ENST00000367505.2_Silent_p.L1519L|SHPRH_ENST00000275233.7_Silent_p.L1519L NM_001042683.2 NP_001036148.2 Q149N8 SHPRH_HUMAN SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase 1519 Helicase C-terminal. DNA repair|nucleosome assembly nucleosome|nucleus ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1) 79 Ovarian(120;0.0365) OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124) GTATTTTCATCAGAGTTCTGA 0.368000 34 212 0 0 0.007835 0 0 MUC16 94025 broad.mit.edu 37 19 9058631 9058631 + Nonsense_Mutation SNP G G T TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr19:9058631G>T ENST00000397910.4 - 3 29018 c.28815C>A c.(28813-28815)taC>taA p.Y9605* NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 9607 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 AGGGCATCTTGTAAAGGACAG 0.527000 20 48 4.96729e-08 9.57745e-08 0.008871 1 0 PRRC2C 23215 broad.mit.edu 37 1 171509204 171509204 + Missense_Mutation SNP G G C TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr1:171509204G>C ENST00000367742.3 + 16 2841 c.2599G>C c.(2599-2601)Gaa>Caa p.E867Q PRRC2C_ENST00000392078.3_Missense_Mutation_p.E867Q|PRRC2C_ENST00000338920.4_Missense_Mutation_p.E865Q|PRRC2C_ENST00000426496.2_Missense_Mutation_p.E865Q Q9Y520 PRC2C_HUMAN proline-rich coiled-coil 2C 865 protein C-terminus binding CTTTATCAGAGAATCAAGTGA 0.408000 35 185 0 0 0.003755 0 0 OCRL 4952 broad.mit.edu 37 X 128694596 128694596 + Silent SNP T T C TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chrX:128694596T>C ENST00000371113.4 + 9 957 c.792T>C c.(790-792)tgT>tgC p.C264C OCRL_ENST00000357121.5_Silent_p.C264C NM_000276.3 NP_000267.2 Q01968 OCRL_HUMAN oculocerebrorenal syndrome of Lowe 264 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3) 48 GGCTGAACTGTGATCCCAATC 0.373000 16 45 0 0 0.004990 0 0 HCG27 253018 broad.mit.edu 37 6 31170406 31170406 + Silent SNP G G C TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr6:31170406G>C ENST00000383331.4 + 2 381 c.381G>C c.(379-381)gtG>gtC p.V127V HCG27_ENST00000415276.1_3'UTR TCCTCAGTGTGACTGGGTGAA 0.637000 8 59 0 0 0.003080 0 0 TSSC2 650368 broad.mit.edu 37 11 3427845 3427845 + RNA SNP C C T TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr11:3427845C>T ENST00000529482.1 + 0 962 CTTCAAGTGGCAGGAGCAGAA 0.587000 5 65 0 0 0.000602 0 0 METTL3 56339 broad.mit.edu 37 14 21971651 21971651 + Nonsense_Mutation SNP C C A TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr14:21971651C>A ENST00000298717.4 - 3 539 c.388G>T c.(388-390)Gag>Tag p.E130* METTL3_ENST00000538267.1_Nonsense_Mutation_p.E130* NM_019852.3 NP_062826.2 Q86U44 MTA70_HUMAN methyltransferase like 3 130 gene expression nuclear speck mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity|RNA binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 20 all_cancers(95;0.000628) Epithelial(56;6.61e-06) GBM - Glioblastoma multiforme(265;0.0146) CGCTTTACCTCAATCAACTCC 0.502000 11 65 4.84862e-15 9.66447e-15 0.000978 1 0 NEK10 152110 broad.mit.edu 37 3 27183070 27183070 + Nonsense_Mutation SNP G G C TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr3:27183070G>C ENST00000429845.2 - 34 3406 c.3044C>G c.(3043-3045)tCa>tGa p.S1015* NEK10_ENST00000498182.1_5'UTR|NEK10_ENST00000295720.6_Nonsense_Mutation_p.S327*|NEK10_ENST00000383770.3_Nonsense_Mutation_p.S270*|NEK10_ENST00000383771.4_Nonsense_Mutation_p.S317* Q6ZWH5 NEK10_HUMAN NIMA-related kinase 10 1015 ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 AATTCCTGCTGATGCTGTGGG 0.348000 17 75 0 0 0.004990 0 0 GJC2 57165 broad.mit.edu 37 1 228346668 228346668 + Silent SNP C C A TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr1:228346668C>A ENST00000366714.2 + 2 1384 c.1209C>A c.(1207-1209)gtC>gtA p.V403V NM_020435.3 NP_065168.2 Q5T442 CXG2_HUMAN gap junction protein, gamma 2, 47kDa 403 cell death connexon complex|integral to membrane endometrium(1)|kidney(1)|large_intestine(1)|lung(4) 7 Prostate(94;0.0405) CGGGCACTGTCGGGGAGCAGG 0.761000 4 24 0.00024832 0.000465107 0.000248 1 0 RPS2 6187 broad.mit.edu 37 16 2012533 2012533 + Missense_Mutation SNP G G A TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr16:2012533G>A ENST00000529806.1 - 4 770 c.584C>T c.(583-585)tCa>tTa p.S195L RPS2_ENST00000343262.4_Missense_Mutation_p.S225L|RPS2_ENST00000526522.1_Missense_Mutation_p.S167L|RPS2_ENST00000530225.1_Intron P15880 RS2_HUMAN ribosomal protein S2 225 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit|nucleoplasm fibroblast growth factor 1 binding|fibroblast growth factor 3 binding|RNA binding|structural constituent of ribosome endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(2) 7 GCCCCGGGCTGAGGTGTAGCA 0.612000 7 88 0 0 0.001984 0 0 FGR 2268 broad.mit.edu 37 1 27948111 27948111 + Silent SNP G G A TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr1:27948111G>A ENST00000374005.3 - 5 675 c.387C>T c.(385-387)ccC>ccT p.P129P FGR_ENST00000399173.1_Silent_p.P129P|FGR_ENST00000545953.1_Intron|FGR_ENST00000374004.1_Silent_p.P129P NM_005248.2 NP_005239.1 P09769 FGR_HUMAN feline Gardner-Rasheed sarcoma viral oncogene homolog 129 SH3. platelet activation|response to virus cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4) 16 all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419) CGTAGTTGCTGGGAATGCAGC 0.577000 6 80 0 0 0.001984 0 0 RHOB 388 broad.mit.edu 37 2 20647344 20647344 + Missense_Mutation SNP G G C TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr2:20647344G>C ENST00000272233.4 + 1 510 c.118G>C c.(118-120)Gag>Cag p.E40Q NM_004040.2 NP_004031.1 P62745 RHOB_HUMAN ras homolog family member B 40 angiogenesis|axon guidance|cell adhesion|endosome to lysosome transport|negative regulation of cell cycle|platelet activation|positive regulation of angiogenesis|protein transport|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|transformed cell apoptosis cytosol|late endosome membrane|nucleus|plasma membrane GTP binding|GTPase activity|protein binding breast(1)|kidney(1)|lung(2)|ovary(1)|urinary_tract(2) 7 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) all_epithelial(98;4.19e-09)|Lung NSC(108;0.00452)|Ovarian(717;0.0164) OV - Ovarian serous cystadenocarcinoma(76;1.14e-22)|Epithelial(75;7.84e-19) CACCGTCTTCGAGAACTATGT 0.652000 13 84 0 0 0.001368 0 0 LRRC37A4P 55073 broad.mit.edu 37 17 43592074 43592074 + RNA SNP C C T TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr17:43592074C>T ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA TTTGCACTTTCTAAAATGGAA 0.453000 7 166 0 0 0.004482 0 0 DOT1L 84444 broad.mit.edu 37 19 2185876 2185876 + Missense_Mutation SNP G G A TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr19:2185876G>A ENST00000398665.3 + 3 184 c.148G>A c.(148-150)Gat>Aat p.D50N NM_032482.2 NP_115871.1 Q8TEK3 DOT1L_HUMAN DOT1-like histone H3K79 methyltransferase 50 nucleus DNA binding|histone-lysine N-methyltransferase activity|protein binding NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9) 42 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) AGAAATCCCGGATCTCAAGCT 0.438000 90 555 0 0 0.003610 0 0 AEBP1 165 broad.mit.edu 37 7 44152430 44152430 + Missense_Mutation SNP C C T TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr7:44152430C>T ENST00000223357.3 + 18 2796 c.2491C>T c.(2491-2493)Cgc>Tgc p.R831C AEBP1_ENST00000450684.2_Missense_Mutation_p.R406C NM_001129.3 NP_001120.3 Q8IUX7 AEBP1_HUMAN AE binding protein 1 831 Interaction with PTEN (By similarity). cell adhesion|muscle organ development|proteolysis|skeletal system development cytoplasm|extracellular space|nucleus DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2) 33 CGAGCCCTACCGCGGAGGCTG 0.677000 20 113 0 0 0.007413 0 0 KIAA2018 205717 broad.mit.edu 37 3 113374152 113374152 + Nonsense_Mutation SNP G G C TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr3:113374152G>C ENST00000316407.4 - 7 6787 c.6377C>G c.(6376-6378)tCa>tGa p.S2126* KIAA2018_ENST00000478658.1_Nonsense_Mutation_p.S2126*|KIAA2018_ENST00000491165.1_Intron NM_001009899.2 NP_001009899.2 Q68DE3 K2018_HUMAN KIAA2018 2126 regulation of transcription, DNA-dependent membrane|nucleus calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 80 ATAGGGGATTGAAATATCATT 0.433000 19 139 0 0 0.007413 0 0 SSPO 23145 broad.mit.edu 37 7 149479352 149479352 + RNA SNP C C A TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr7:149479352C>A ENST00000378016.2 + 0 1865 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) ATCTCCGTCTCCCTGGAGGAC 0.627000 7 33 5.18039e-06 9.89136e-06 0.003080 1 0 WASH6P 653440 broad.mit.edu 37 X 155252868 155252868 + RNA SNP T T A TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chrX:155252868T>A ENST00000285718.7 + 0 819 WASH6P_ENST00000461007.1_RNA p.P304P(5) TAGCCGAGCCTCTCAAGGCAG 0.632000 6 16 0 0 0.006214 0 0 PDCL 5082 broad.mit.edu 37 9 125582396 125582396 + Missense_Mutation SNP G G A TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr9:125582396G>A ENST00000259467.4 - 4 1039 c.874C>T c.(874-876)Cac>Tac p.H292Y NM_005388.4 NP_005379.3 Q13371 PHLP_HUMAN phosducin-like 292 signal transduction|visual perception endometrium(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1) 10 TCCTCACTGTGACACGTGGCA 0.413000 12 85 0 0 0.001855 0 0 HIST1H4D 8360 broad.mit.edu 37 6 26189187 26189187 + Missense_Mutation SNP G G A TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr6:26189187G>A ENST00000340756.2 - 1 117 c.118C>T c.(118-120)Cgc>Tgc p.R40C NM_003539.3 NP_003530.1 P62805 H4_HUMAN histone cluster 1, H4d 40 CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance nucleoplasm|nucleosome DNA binding|protein binding breast(2)|endometrium(2)|large_intestine(2)|lung(1)|prostate(1) 8 all_hematologic(11;0.196) CCGCCGCGGCGAGCCAGGCGG 0.557000 11 111 0 0 0.000978 0 0 CCDC114 93233 broad.mit.edu 37 19 48806284 48806284 + Missense_Mutation SNP C C T TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr19:48806284C>T ENST00000315396.7 - 9 1628 c.946G>A c.(946-948)Gaa>Aaa p.E316K NM_144577.3 NP_653178.3 Q96M63 CC114_HUMAN coiled-coil domain containing 114 316 cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1) 24 all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143) TTGATCTCTTCCTGCACATGC 0.612000 13 88 0 0 0.002450 0 0 HNRNPDL 9987 broad.mit.edu 37 4 83348632 83348632 + Missense_Mutation SNP A A T TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr4:83348632A>T ENST00000295470.5 - 4 1035 c.860T>A c.(859-861)gTa>gAa p.V287E HNRNPDL_ENST00000502762.1_Missense_Mutation_p.V287E|HNRNPDL_ENST00000602300.1_Missense_Mutation_p.V168E|HNRNPDL_ENST00000349655.4_Missense_Mutation_p.V168E|HNRNPDL_ENST00000514511.1_5'UTR NM_001207000.1|NM_031372.3 NP_001193929.1|NP_112740.1 heterogeneous nuclear ribonucleoprotein D-like CAATTTTTTTACTGGCTCTTC 0.289000 6 72 0 0 0.001168 0 0 CECR2 27443 broad.mit.edu 37 22 18029035 18029035 + Missense_Mutation SNP G G A TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr22:18029035G>A ENST00000400573.5 + 17 3999 c.3992G>A c.(3991-3993)cGg>cAg p.R1331Q CECR2_ENST00000400585.2_Missense_Mutation_p.R1189Q|CECR2_ENST00000262608.8_Missense_Mutation_p.R1332Q Q9BXF3 CECR2_HUMAN cat eye syndrome chromosome region, candidate 2 chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport protein binding p.R1331Q(1) NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 59 all_epithelial(15;0.139) Lung(27;0.146) ACCCCTCAGCGGCCGGCCAGT 0.627000 4 87 0 0 0.000602 0 0 ZNF429 353088 broad.mit.edu 37 19 21719694 21719694 + Missense_Mutation SNP C C T TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr19:21719694C>T ENST00000358491.4 + 4 1047 c.839C>T c.(838-840)tCt>tTt p.S280F ZNF429_ENST00000597078.1_Intron NM_001001415.2 NP_001001415.2 Q86V71 ZN429_HUMAN zinc finger protein 429 280 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2) 34 AGAATTCATTCTGGAGAGAAG 0.378000 15 74 0 0 0.003163 0 0 BOD1L1 259282 broad.mit.edu 37 4 13605102 13605102 + Missense_Mutation SNP C C T TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr4:13605102C>T ENST00000040738.5 - 10 3557 c.3422G>A c.(3421-3423)cGc>cAc p.R1141H NM_148894.2 NP_683692.2 Q8NFC6 BOD1L_HUMAN biorientation of chromosomes in cell division 1-like 1 1141 DNA binding ATTATTATTGCGGTTGTCTTG 0.373000 7 200 0 0 0.001984 0 0 MAS1L 116511 broad.mit.edu 37 6 29455089 29455089 + Missense_Mutation SNP G G C TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr6:29455089G>C ENST00000377127.3 - 1 649 c.591C>G c.(589-591)atC>atG p.I197M NM_052967.1 NP_443199.1 P35410 MAS1L_HUMAN MAS1 oncogene-like 197 cytoplasm|integral to membrane|nucleus|plasma membrane G-protein coupled receptor activity NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2) 28 GCAGGCCCCAGATGAGGGTGC 0.463000 17 90 0 0 0.004990 0 0 NBPF12 149013 broad.mit.edu 37 1 146465883 146465883 + Missense_Mutation SNP A A G TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr1:146465883A>G ENST00000442909.2 + 82 10594 c.9758A>G c.(9757-9759)aAc>aGc p.N3253S NBPF12_ENST00000446760.2_Missense_Mutation_p.T836A|NBPF12_ENST00000309471.8_Missense_Mutation_p.T788A neuroblastoma breakpoint family, member 12 ovary(2) 2 TCCAGGCTCAACAGCGTGCTG 0.448000 4 137 0 0 0.000248 0 0 LRP5 4041 broad.mit.edu 37 11 68204361 68204361 + Missense_Mutation SNP C C G TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr11:68204361C>G ENST00000294304.7 + 19 4111 c.4005C>G c.(4003-4005)atC>atG p.I1335M NM_002335.2 NP_002326.2 O75197 LRP5_HUMAN low density lipoprotein receptor-related protein 5 1335 LDL-receptor class A 3. adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex protein binding|receptor activity autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 TTGCAGCCATCTGCCTGCCCA 0.622000 17 68 0 0 0.004007 0 0 TDRD6 221400 broad.mit.edu 37 6 46660944 46660944 + Missense_Mutation SNP G G C TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr6:46660944G>C ENST00000544460.1 + 1 5333 c.5079G>C c.(5077-5079)gaG>gaC p.E1693D TDRD6_ENST00000316081.6_Missense_Mutation_p.E1693D NM_001168359.1 NP_001161831.1 O60522 TDRD6_HUMAN tudor domain containing 6 1693 cell differentiation|multicellular organismal development|spermatogenesis chromatoid body nucleic acid binding NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 Lung(136;0.192) GTATTAATGAGAAAATGGAGA 0.333000 7 74 0 0 0.003080 0 0 BRD4 23476 broad.mit.edu 37 19 15349899 15349899 + Silent SNP C C T TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr19:15349899C>T ENST00000263377.2 - 18 3974 c.3753G>A c.(3751-3753)gaG>gaA p.E1251E NM_058243.2 NP_490597.1 O60885 BRD4_HUMAN bromodomain containing 4 1251 interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle condensed nuclear chromosome|cytoplasm protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18) GCCGCTCCTTCTCCTTCTCAG 0.672000 T C15orf55 lethal midline carcinoma of young people 9 24 0 0 0.006214 0 0 C10orf137 26098 broad.mit.edu 37 10 127442406 127442406 + Missense_Mutation SNP G G C TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr10:127442406G>C ENST00000337623.3 + 23 3540 c.3435G>C c.(3433-3435)aaG>aaC p.K1145N C10orf137_ENST00000356792.4_Missense_Mutation_p.K1179N NM_015608.2 NP_056423.2 Q3B7T1 EDRF1_HUMAN chromosome 10 open reading frame 137 1179 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 61 all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936) CAACTAAAAAGAAAACAAGGT 0.348000 7 87 0 0 0.004482 0 0 COX11 1353 broad.mit.edu 37 17 53045777 53045777 + Silent SNP C C G TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr17:53045777C>G ENST00000299335.3 - 1 369 c.231G>C c.(229-231)tcG>tcC p.S77S COX11_ENST00000571584.1_Silent_p.S77S NM_004375.3 NP_004366.1 Q9Y6N1 COX11_HUMAN cytochrome c oxidase assembly homolog 11 (yeast) 77 respiratory chain complex IV assembly|respiratory gaseous exchange integral to membrane|mitochondrial inner membrane copper ion binding|cytochrome-c oxidase activity|electron carrier activity endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|prostate(1) 9 TGAAAGGGTTCGAGCTCTTAG 0.677000 17 141 0 0 0.006122 0 0 TNKS2 80351 broad.mit.edu 37 10 93615440 93615440 + Missense_Mutation SNP C C T TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr10:93615440C>T ENST00000371627.4 + 23 3362 c.2983C>T c.(2983-2985)Ctc>Ttc p.L995F NM_025235.3 NP_079511.1 Q9H2K2 TNKS2_HUMAN tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2 995 PARP catalytic. positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm NAD+ ADP-ribosyltransferase activity|protein binding biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1) 48 Colorectal(252;0.162) ATACAATATTCTCAAGGTAAT 0.368000 5 45 0 0 0.000602 0 0 ABCA12 26154 broad.mit.edu 37 2 215840688 215840688 + Missense_Mutation SNP G G C TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr2:215840688G>C ENST00000272895.7 - 34 5421 c.5202C>G c.(5200-5202)atC>atG p.I1734M ABCA12_ENST00000389661.4_Missense_Mutation_p.I1416M NM_173076.2 NP_775099.2 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A (ABC1), member 12 1734 cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 139 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) GGAACCTCTTGATGAGTATAG 0.478000 17 78 0 0 0.006122 0 0 NEURL4 84461 broad.mit.edu 37 17 7227283 7227283 + Missense_Mutation SNP G G A TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr17:7227283G>A ENST00000399464.2 - 12 2126 c.2111C>T c.(2110-2112)tCt>tTt p.S704F NEURL4_ENST00000570460.1_Missense_Mutation_p.S682F|NEURL4_ENST00000315614.7_Missense_Mutation_p.S704F NM_032442.2 NP_115818.2 neuralized E3 ubiquitin protein ligase 4 central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 AGAGCTTGGAGACACCTGGTT 0.612000 OREG0024134 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 80 0 0 0.004482 0 0 CENPL 91687 broad.mit.edu 37 1 173772540 173772540 + Missense_Mutation SNP G G A TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr1:173772540G>A ENST00000356198.2 - 6 947 c.662C>T c.(661-663)tCa>tTa p.S221L CENPL_ENST00000345664.6_Missense_Mutation_p.S175L|CENPL_ENST00000367710.3_Missense_Mutation_p.S175L NM_001127181.2 NP_001120653.1 Q8N0S6 CENPL_HUMAN centromere protein L 175 mitotic prometaphase chromosome, centromeric region|cytosol|nucleus breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(3) 11 GAAATCTTCTGAAACAGTCTC 0.418000 30 147 0 0 0.002096 0 0 XIRP2 129446 broad.mit.edu 37 2 168103446 168103446 + Silent SNP C C T TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr2:168103446C>T ENST00000409195.1 + 9 5633 c.5544C>T c.(5542-5544)ctC>ctT p.L1848L XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Silent_p.L1626L|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Silent_p.L1848L|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 1673 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 TAAATTCCCTCAGCCAGGCTG 0.378000 22 131 0 0 0.001523 0 0 PPP2R5D 5528 broad.mit.edu 37 6 42978733 42978733 + Nonsense_Mutation SNP C C T TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr6:42978733C>T ENST00000485511.1 + 15 1848 c.1669C>T c.(1669-1671)Cag>Tag p.Q557* PPP2R5D_ENST00000472118.1_Nonsense_Mutation_p.Q549*|PPP2R5D_ENST00000394110.3_Nonsense_Mutation_p.Q525*|PPP2R5D_ENST00000461010.1_Nonsense_Mutation_p.Q451* NM_001270476.1|NM_006245.3 NP_001257405.1|NP_006236.1 Q14738 2A5D_HUMAN protein phosphatase 2, regulatory subunit B', delta 557 nervous system development|signal transduction cytoplasm|nucleus|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 25 Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188) TGAGGCTGTTCAGGTGGGAGG 0.547000 8 130 0 0 0.003080 0 0 FAM86C2P 645332 broad.mit.edu 37 11 67564228 67564228 + RNA SNP C C T TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr11:67564228C>T ENST00000528089.1 - 0 912 GAGGAGCCCGCTGGTGCTCCC 0.627000 4 111 0 0 0.000248 0 0 ATRN 8455 broad.mit.edu 37 20 3571898 3571898 + Silent SNP C C T TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr20:3571898C>T ENST00000262919.5 + 19 3335 c.3267C>T c.(3265-3267)tgC>tgT p.C1089C ATRN_ENST00000446916.2_Silent_p.C1089C NM_139321.2 NP_647537.1 O75882 ATRN_HUMAN attractin 1089 Laminin EGF-like 1. inflammatory response extracellular space|integral to plasma membrane receptor activity|sugar binding breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 59 GCAAGCACTGCGAGACCTGCA 0.478000 10 144 0 0 0.008291 0 0 DAPK1 1612 broad.mit.edu 37 9 90256923 90256923 + Missense_Mutation SNP G G A TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr9:90256923G>A ENST00000469640.2 + 10 1243 c.868G>A c.(868-870)Gca>Aca p.A290T DAPK1_ENST00000358077.5_Missense_Mutation_p.A290T|DAPK1_ENST00000491893.1_Missense_Mutation_p.A290T|DAPK1_ENST00000472284.1_Missense_Mutation_p.A290T|DAPK1_ENST00000408954.3_Missense_Mutation_p.A290T P53355 DAPK1_HUMAN death-associated protein kinase 1 290 Calmodulin-binding. apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade actin cytoskeleton|cytoplasm ATP binding|calmodulin binding|protein serine/threonine kinase activity p.A290P(2) breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1) 72 AAAAGCATCAGCAGTAAACAT 0.323000 Chronic Lymphocytic Leukemia, Familial Clustering of 15 76 0 0 0.006122 0 0 OR2AK2 391191 broad.mit.edu 37 1 248129018 248129018 + Missense_Mutation SNP C C T TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr1:248129018C>T ENST00000366480.3 + 1 484 c.385C>T c.(385-387)Ctc>Ttc p.L129F OR2L13_ENST00000366478.2_Intron NM_001004491.1 NP_001004491.1 Q8NG84 O2AK2_HUMAN olfactory receptor, family 2, subfamily AK, member 2 129 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 36 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0152) TGAAGCCCTTCTCCTTGGTTT 0.443000 64 376 0 0 0.003610 0 0 PDLIM2 64236 broad.mit.edu 37 8 22452129 22452129 + Silent SNP G G A TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr8:22452129G>A ENST00000265810.4 + 10 1183 c.1068G>A c.(1066-1068)agG>agA p.R356R AC037459.4_ENST00000430850.2_Intron NM_176871.3 NP_789847.1 Q96JY6 PDLI2_HUMAN PDZ and LIM domain 2 (mystique) 0 actin cytoskeleton|cell surface|cytoplasm|focal adhesion|nucleus zinc ion binding endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1) 9 Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142) BRCA - Breast invasive adenocarcinoma(99;0.00579)|Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0626) GGGACAGGAGGAAGACCAGGA 0.612000 15 98 0 0 0.002450 0 0 HCG27 253018 broad.mit.edu 37 6 31170308 31170308 + Missense_Mutation SNP G G C TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr6:31170308G>C ENST00000383331.4 + 2 283 c.283G>C c.(283-285)Gac>Cac p.D95H HCG27_ENST00000415276.1_3'UTR AGGGAGATGAGACATACCAGG 0.632000 4 26 0 0 0.000248 0 0 PVRL1 5818 broad.mit.edu 37 11 119535534 119535534 + Missense_Mutation SNP C C G TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr11:119535534C>G ENST00000264025.3 - 6 2007 c.1477G>C c.(1477-1479)Gag>Cag p.E493Q PVRL1_ENST00000341398.2_Intron NM_002855.4 NP_002846.3 Q15223 PVRL1_HUMAN poliovirus receptor-related 1 (herpesvirus entry mediator C) 493 adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response cell-cell adherens junction|extracellular region|integral to membrane cell adhesion molecule binding|coreceptor activity|protein homodimerization activity breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.29e-05) TCCAGCTGCTCAGGGTCGTAC 0.592000 9 46 0 0 0.006214 0 0 RBM14 10432 broad.mit.edu 37 11 66392624 66392624 + Missense_Mutation SNP C C G TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr11:66392624C>G ENST00000310137.4 + 2 1416 c.1277C>G c.(1276-1278)tCt>tGt p.S426C RBM14-RBM4_ENST00000511114.1_Intron|RBM14_ENST00000409738.4_Intron|RBM14-RBM4_ENST00000412278.2_Intron|RBM4_ENST00000503028.2_Intron|RBM14_ENST00000393979.3_Intron|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000514361.3_Intron NM_006328.3 NP_006319.1 Q96PK6 RBM14_HUMAN RNA binding motif protein 14 426 Ala-rich. DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|histone deacetylation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus mediator complex|ribonucleoprotein complex|transcription factor complex ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|protein binding, bridging|RNA binding|RNA polymerase II transcription cofactor activity RBM14/PACS1(2) breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 17 GCTTCCTACTCTTCCCAACCT 0.602000 45 287 0 0 0.002852 0 0 ITGB4 3691 broad.mit.edu 37 17 73726984 73726984 + Missense_Mutation SNP C C T TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr17:73726984C>T ENST00000200181.3 + 9 1218 c.1031C>T c.(1030-1032)tCa>tTa p.S344L ITGB4_ENST00000449880.2_Missense_Mutation_p.S344L|ITGB4_ENST00000339591.3_Missense_Mutation_p.S344L|ITGB4_ENST00000579662.1_Missense_Mutation_p.S344L|ITGB4_ENST00000450894.3_Missense_Mutation_p.S344L|ITGB4_ENST00000584558.1_3'UTR NM_000213.3 NP_000204.3 P16144 ITB4_HUMAN integrin, beta 4 344 cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding cell leading edge|cell surface|hemidesmosome|integrin complex protein binding|receptor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1) 43 all_cancers(13;1.5e-07) all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) CCTGTCTCCTCACTGGGGGTG 0.567000 56 236 0 0 0.003610 0 0 RAP1GAP 5909 broad.mit.edu 37 1 21929365 21929365 + Silent SNP C C T TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr1:21929365C>T ENST00000542643.2 - 21 1850 c.1548G>A c.(1546-1548)tcG>tcA p.S516S RAP1GAP_ENST00000374761.2_Silent_p.S521S|RAP1GAP_ENST00000374763.2_Silent_p.S575S|RAP1GAP_ENST00000290101.4_Silent_p.S554S|RAP1GAP_ENST00000374765.4_Silent_p.S490S NM_001145657.1 NP_001139129.1 P47736 RPGP1_HUMAN RAP1 GTPase activating protein 490 regulation of Ras GTPase activity|signal transduction cytosol|Golgi membrane|membrane fraction GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1) 17 Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427) UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146) CGAACGGGCCCGACTTCTTCC 0.652000 4 45 0 0 0.000248 0 0 RHOB 388 broad.mit.edu 37 2 20647480 20647480 + Missense_Mutation SNP C C T TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr2:20647480C>T ENST00000272233.4 + 1 646 c.254C>T c.(253-255)tCg>tTg p.S85L NM_004040.2 NP_004031.1 P62745 RHOB_HUMAN ras homolog family member B 85 angiogenesis|axon guidance|cell adhesion|endosome to lysosome transport|negative regulation of cell cycle|platelet activation|positive regulation of angiogenesis|protein transport|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|transformed cell apoptosis cytosol|late endosome membrane|nucleus|plasma membrane GTP binding|GTPase activity|protein binding breast(1)|kidney(1)|lung(2)|ovary(1)|urinary_tract(2) 7 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) all_epithelial(98;4.19e-09)|Lung NSC(108;0.00452)|Ovarian(717;0.0164) OV - Ovarian serous cystadenocarcinoma(76;1.14e-22)|Epithelial(75;7.84e-19) ATGTGCTTCTCGGTGGACAGC 0.637000 18 192 0 0 0.006122 0 0 PTPN22 26191 broad.mit.edu 37 1 114391204 114391204 + Missense_Mutation SNP C C G TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr1:114391204C>G ENST00000359785.5 - 11 1008 c.873G>C c.(871-873)aaG>aaC p.K291N PTPN22_ENST00000525799.1_Missense_Mutation_p.K164N|PTPN22_ENST00000460620.1_Intron|PTPN22_ENST00000528414.1_Intron|PTPN22_ENST00000420377.2_Missense_Mutation_p.K291N|PTPN22_ENST00000538253.1_Missense_Mutation_p.K47N NM_001193431.1|NM_015967.5 NP_001180360.1|NP_057051 Q9Y2R2 PTN22_HUMAN protein tyrosine phosphatase, non-receptor type 22 (lymphoid) 291 negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation internal side of plasma membrane|nucleus|perinuclear region of cytoplasm kinase binding|protein tyrosine phosphatase activity|SH3 domain binding NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Lung SC(450;0.184) all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) CCATCTGTCTCTTAAATAGTT 0.313000 34 213 0 0 0.004289 0 0 TAF1D 79101 broad.mit.edu 37 11 93471479 93471479 + Missense_Mutation SNP C C G TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr11:93471479C>G ENST00000448108.2 - 3 905 c.255G>C c.(253-255)aaG>aaC p.K85N NM_024116.3 NP_077021.1 Q9H5J8 TAF1D_HUMAN TATA box binding protein (TBP)-associated factor, RNA polymerase I, D, 41kDa 85 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding large_intestine(1)|lung(3)|prostate(1)|skin(2) 7 TTTTCCTGTTCTTGAATCTTT 0.378000 32 146 0 0 0.008361 0 0 SEPT11 55752 broad.mit.edu 37 4 77941657 77941657 + Missense_Mutation SNP G G C TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr4:77941657G>C ENST00000264893.6 + 7 988 c.787G>C c.(787-789)Gag>Cag p.E263Q SEPT11_ENST00000505788.1_Missense_Mutation_p.E263Q|SEPT11_ENST00000541121.1_Missense_Mutation_p.E273Q|SEPT11_ENST00000512575.1_Intron|SEPT11_ENST00000510515.1_Missense_Mutation_p.E273Q|SEPT11_ENST00000502584.1_Missense_Mutation_p.E263Q NM_018243.2 NP_060713.1 Q9NVA2 SEP11_HUMAN septin 11 263 cell cycle|cell division|protein heterooligomerization axon|cell junction|dendritic spine|septin complex|stress fiber|synapse GTP binding|protein binding endometrium(2)|kidney(3)|large_intestine(3)|lung(1)|skin(1)|stomach(1) 11 TCTTGTAGTTGAGAATGAAAA 0.453000 18 108 0 0 0.008871 0 0 ZNF333 84449 broad.mit.edu 37 19 14805830 14805830 + Silent SNP C C T TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr19:14805830C>T ENST00000292530.6 + 3 103 c.12C>T c.(10-12)gtC>gtT p.V4V ZNF333_ENST00000536363.1_5'UTR|ZNF333_ENST00000540689.2_Silent_p.V4V|ZNF333_ENST00000601134.1_Silent_p.V4V|ZNF333_ENST00000601629.1_3'UTR NM_032433.2 NP_115809.1 Q96JL9 ZN333_HUMAN zinc finger protein 333 4 KRAB 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|prostate(1) 21 AGGAATCCGTCACCTTTGAGG 0.527000 28 118 0 0 0.007291 0 0 MGAM 8972 broad.mit.edu 37 7 141763322 141763322 + Silent SNP C C T TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr7:141763322C>T ENST00000475668.2 + 36 4335 c.4281C>T c.(4279-4281)ttC>ttT p.F1427F MGAM_ENST00000549489.2_Silent_p.F1427F O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 1427 Glucoamylase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) CATCAAGCTTCGTGAATGGGG 0.493000 6 29 0 0 0.001984 0 0 TCOF1 6949 broad.mit.edu 37 5 149758948 149758948 + Missense_Mutation SNP G G A TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr5:149758948G>A ENST00000451292.1 + 16 2743 c.2635G>A c.(2635-2637)Gag>Aag p.E879K TCOF1_ENST00000506063.1_3'UTR|TCOF1_ENST00000513346.1_Missense_Mutation_p.E879K|TCOF1_ENST00000439160.2_Missense_Mutation_p.E879K|TCOF1_ENST00000504761.2_Missense_Mutation_p.E879K|TCOF1_ENST00000323668.7_Missense_Mutation_p.E802K|TCOF1_ENST00000377797.3_Missense_Mutation_p.E879K|TCOF1_ENST00000445265.2_Missense_Mutation_p.E802K|TCOF1_ENST00000394269.3_Missense_Mutation_p.E879K Q13428 TCOF_HUMAN Treacher Collins-Franceschetti syndrome 1 879 skeletal system development nucleolus protein binding|transporter activity NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 35 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) AGACAGTGAGGAGGAGGCGGA 0.597000 19 73 0 0 0.006122 0 0 SLC6A9 6536 broad.mit.edu 37 1 44467181 44467181 + Missense_Mutation SNP C C A TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr1:44467181C>A ENST00000372310.3 - 9 1246 c.1081G>T c.(1081-1083)Gac>Tac p.D361Y SLC6A9_ENST00000372306.3_Missense_Mutation_p.D361Y|SLC6A9_ENST00000372307.3_Missense_Mutation_p.D296Y|SLC6A9_ENST00000475075.2_Missense_Mutation_p.D250Y|SLC6A9_ENST00000360584.2_Missense_Mutation_p.D434Y|SLC6A9_ENST00000357730.2_Missense_Mutation_p.D380Y|SLC6A9_ENST00000537678.1_Missense_Mutation_p.D296Y NM_001024845.2 NP_001020016.1 P48067 SC6A9_HUMAN solute carrier family 6 (neurotransmitter transporter, glycine), member 9 434 integral to plasma membrane|membrane fraction glycine:sodium symporter activity|neurotransmitter:sodium symporter activity endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2) 22 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0511) Glycine(DB00145) GGGCCGTGGTCTGCCACACGG 0.592000 26 130 4.26978e-12 8.34162e-12 0.003330 1 0 DTX1 1840 broad.mit.edu 37 12 113515335 113515335 + Missense_Mutation SNP T T G TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr12:113515335T>G ENST00000257600.3 + 2 869 c.366T>G c.(364-366)gaT>gaG p.D122E NM_004416.2 NP_004407.2 Q86Y01 DTX1_HUMAN deltex homolog 1 (Drosophila) 122 WWE 2. negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter cytoplasm|nucleus Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 32 CGGCCTACGATATGGACATCT 0.622000 7 210 0 0 0.003080 0 0 RNLS 55328 broad.mit.edu 37 10 90122330 90122330 + Missense_Mutation SNP C C T TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr10:90122330C>T ENST00000371947.3 - 5 2018 c.679G>A c.(679-681)Gat>Aat p.D227N RNLS_ENST00000466945.1_5'UTR|RNLS_ENST00000437752.1_Missense_Mutation_p.D144N|RNLS_ENST00000331772.4_Missense_Mutation_p.D227N NM_018363.3 NP_060833.1 Q5VYX0 RNLS_HUMAN renalase, FAD-dependent amine oxidase 227 extracellular region oxidoreductase activity breast(1)|kidney(1)|lung(3)|ovary(1)|prostate(1) 7 TTCTTATTATCAATGGAGACG 0.423000 23 113 0 0 0.003954 0 0 ELF3 1999 broad.mit.edu 37 1 201982329 201982329 + Missense_Mutation SNP G G C TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr1:201982329G>C ENST00000359651.3 + 6 3900 c.708G>C c.(706-708)aaG>aaC p.K236N ELF3_ENST00000367284.5_Missense_Mutation_p.K236N|RP11-510N19.5_ENST00000504773.1_RNA|ELF3_ENST00000367283.3_Missense_Mutation_p.K236N P78545 ELF3_HUMAN E74-like factor 3 (ets domain transcription factor, epithelial-specific ) 236 epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Golgi apparatus|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 20 GTGACTGCAAGAAGGGGGATC 0.592000 15 76 0 0 0.003163 0 0 STAG1 10274 broad.mit.edu 37 3 136192462 136192462 + Silent SNP C C T TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr3:136192462C>T ENST00000383202.2 - 11 1300 c.1044G>A c.(1042-1044)ctG>ctA p.L348L STAG1_ENST00000236698.5_Silent_p.L348L|STAG1_ENST00000434713.2_Silent_p.L122L NM_005862.2 NP_005853.2 Q8WVM7 STAG1_HUMAN stromal antigen 1 348 SCD. cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase cell junction|chromatin|chromosome, centromeric region|nucleoplasm protein binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 TCAAACACTTCAGCCTGACTT 0.348000 14 92 0 0 0.001855 0 0 MICAL2 9645 broad.mit.edu 37 11 12225944 12225944 + Missense_Mutation SNP C C T TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr11:12225944C>T ENST00000256194.4 + 4 700 c.412C>T c.(412-414)Cgt>Tgt p.R138C MICAL2_ENST00000527195.1_3'UTR|MICAL2_ENST00000342902.5_Missense_Mutation_p.R138C|MICAL2_ENST00000537344.1_Missense_Mutation_p.R138C|MICAL2_ENST00000379612.3_Missense_Mutation_p.R138C|MICAL2_ENST00000527546.1_Missense_Mutation_p.R138C NM_001282663.1|NM_014632.2 NP_001269592.1|NP_055447.1 O94851 MICA2_HUMAN microtubule associated monooxygenase, calponin and LIM domain containing 2 138 cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 47 Epithelial(150;0.00552) CCATGACCTTCGTGGCCTGGG 0.547000 23 135 0 0 0.002299 0 0 C11orf73 51501 broad.mit.edu 37 11 86017314 86017314 + Missense_Mutation SNP G G A TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr11:86017314G>A ENST00000533986.1 + 2 296 c.58G>A c.(58-60)Gag>Aag p.E20K C11orf73_ENST00000278483.3_Missense_Mutation_p.E20K|C11orf73_ENST00000530208.1_3'UTR Q53FT3 CK073_HUMAN chromosome 11 open reading frame 73 20 cytoplasm kidney(1)|large_intestine(1)|urinary_tract(1) 3 Acute lymphoblastic leukemia(157;1.17e-07)|all_hematologic(158;0.000556) GCAAGTGGCAGAGGATAAATT 0.373000 19 95 0 0 0.008871 0 0 MICAL1 64780 broad.mit.edu 37 6 109771575 109771575 + Silent SNP C C T TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr6:109771575C>T ENST00000368952.4 - 8 1466 c.1176G>A c.(1174-1176)gaG>gaA p.E392E MICAL1_ENST00000358577.3_Intron|MICAL1_ENST00000358807.3_Silent_p.E373E Q8TDZ2 MICA1_HUMAN microtubule associated monooxygenase, calponin and LIM domain containing 1 373 cytoskeleton organization|signal transduction cytoplasm|intermediate filament SH3 domain binding|zinc ion binding NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 40 all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149) Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574) GAGCAGAACTCTCTGCCCGCA 0.607000 11 133 0 0 0.008291 0 0 HCG27 253018 broad.mit.edu 37 6 31170271 31170271 + Silent SNP G G C TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr6:31170271G>C ENST00000383331.4 + 2 246 c.246G>C c.(244-246)cgG>cgC p.R82R HCG27_ENST00000415276.1_3'UTR GCCAACCCCGGACTCAAGACT 0.612000 3 18 0 0 0.004672 0 0 KCNS1 3787 broad.mit.edu 37 20 43723900 43723900 + Missense_Mutation SNP C C T TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr20:43723900C>T ENST00000306117.1 - 5 1588 c.1192G>A c.(1192-1194)Gaa>Aaa p.E398K KCNS1_ENST00000537075.1_Missense_Mutation_p.E398K NM_002251.3 NP_002242.2 Q96KK3 KCNS1_HUMAN potassium voltage-gated channel, delayed-rectifier, subfamily S, member 1 398 voltage-gated potassium channel complex delayed rectifier potassium channel activity|potassium channel regulator activity|protein binding endometrium(1)|lung(3)|ovary(1)|stomach(1) 6 Myeloproliferative disorder(115;0.0122) TCCTCCTTTTCAGCTGTGTAG 0.567000 6 72 0 0 0.001168 0 0 KMT2A 4297 broad.mit.edu 37 11 118373897 118373897 + Silent SNP G G A TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr11:118373897G>A ENST00000534358.1 + 27 7313 c.7290G>A c.(7288-7290)caG>caA p.Q2430Q KMT2A_ENST00000389506.5_Silent_p.Q2427Q|KMT2A_ENST00000354520.4_Silent_p.Q2389Q NM_001197104.1|NM_005933.3 NP_001184033.1|NP_005924.2 lysine (K)-specific methyltransferase 2A ATAGGAGACAGAAAGGGAAAA 0.383000 13 70 0 0 0.001368 0 0 TEKT1 83659 broad.mit.edu 37 17 6733599 6733599 + Nonsense_Mutation SNP G G A rs143066578 TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr17:6733599G>A ENST00000338694.2 - 2 226 c.97C>T c.(97-99)Cga>Tga p.R33* TEKT1_ENST00000535086.1_5'UTR NM_053285.1 NP_444515.1 Q969V4 TEKT1_HUMAN tektin 1 33 microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule p.R33*(1)|p.R33G(1) NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1) 20 Myeloproliferative disorder(207;0.0255) CGTTCTGATCGGGACCTTTGA 0.468000 22 72 0 0 0.001882 0 0 DNAJC9 23234 broad.mit.edu 37 10 75005705 75005705 + Missense_Mutation SNP T T C TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr10:75005705T>C ENST00000372950.4 - 3 2223 c.551A>G c.(550-552)cAa>cGa p.Q184R NM_015190.3 NP_056005.1 Q8WXX5 DNJC9_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 9 184 protein folding heat shock protein binding|unfolded protein binding endometrium(2)|kidney(1)|large_intestine(2)|stomach(1) 6 Prostate(51;0.0119) ATTCATCTTTTGTTTCGATTC 0.393000 17 116 0 0 0.004007 0 0 DLD 1738 broad.mit.edu 37 7 107558422 107558422 + Missense_Mutation SNP G G C TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr7:107558422G>C ENST00000205402.5 + 12 1571 c.1290G>C c.(1288-1290)aaG>aaC p.K430N DLD_ENST00000437604.2_Missense_Mutation_p.K382N|DLD_ENST00000440410.1_Missense_Mutation_p.K407N|DLD_ENST00000537148.1_Missense_Mutation_p.K331N NM_000108.3 NP_000099.2 P09622 DLDH_HUMAN dihydrolipoamide dehydrogenase 430 branched chain family amino acid catabolic process|cell redox homeostasis|lysine catabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|tricarboxylic acid cycle mitochondrial matrix dihydrolipoyl dehydrogenase activity NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(10)|prostate(1) 20 NADH(DB00157) GCAGAGCTAAGACAAATGCTG 0.428000 23 117 0 0 0.003330 0 0 TCHP 84260 broad.mit.edu 37 12 110345342 110345342 + Silent SNP C C T TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr12:110345342C>T ENST00000312777.5 + 6 751 c.537C>T c.(535-537)acC>acT p.T179T TCHP_ENST00000405876.4_Silent_p.T179T NM_032300.4 NP_115676.1 Q9BT92 TCHP_HUMAN trichoplein, keratin filament binding 179 Glu-rich.|Interaction with keratin proteins. apoptosis|negative regulation of cell growth apical cortex|centrosome|keratin filament|mitochondrion|plasma membrane protein binding NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(2) 22 AAGAAGCCACCGCAGAGCAAG 0.517000 24 202 0 0 0.002780 0 0 SRRM2 23524 broad.mit.edu 37 16 2817533 2817533 + Missense_Mutation SNP C C G rs140636308 TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr16:2817533C>G ENST00000301740.8 + 11 7553 c.7004C>G c.(7003-7005)tCt>tGt p.S2335C SRRM2_ENST00000574593.1_3'UTR NM_016333.3 NP_057417.3 Q9UQ35 SRRM2_HUMAN serine/arginine repetitive matrix 2 2335 Ala-rich.|Ser-rich. Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7) 105 GCTCCAGCCTCTGCAAACCTG 0.622000 65 445 0 0 0.003610 0 0 KRTAP1-1 81851 broad.mit.edu 37 17 39197549 39197549 + Missense_Mutation SNP G G C TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr17:39197549G>C ENST00000306271.4 - 1 164 c.101C>G c.(100-102)tCc>tGc p.S34C NM_030967.2 NP_112229.1 Q07627 KRA11_HUMAN keratin associated protein 1-1 34 Missing (in allele KAP1.7).|PSCSTSGTCGSSCCQPSCCETSSCQPRCCETSCCQPSCCQT SFCGFP -> R (in allele KAP1.6). extracellular region|keratin filament p.S34C(6) NS(2)|endometrium(2)|kidney(5)|lung(4)|prostate(1) 14 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) TGGCTGGCAGGAGCTGGTCTC 0.612000 4 208 0 0 0.001168 0 0 SH2B3 10019 broad.mit.edu 37 12 111885521 111885521 + Missense_Mutation SNP C C T TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr12:111885521C>T ENST00000341259.2 + 7 1655 c.1298C>T c.(1297-1299)tCg>tTg p.S433L SH2B3_ENST00000538307.1_Missense_Mutation_p.S231L NM_005475.2 NP_005466.1 Q9UQQ2 SH2B3_HUMAN SH2B adaptor protein 3 433 SH2. blood coagulation cytosol signal transducer activity central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|skin(1) 10 CACTTTCCCTCGGTCGTGGAC 0.667000 14 221 0 0 0.002450 0 0 PPP2R5D 5528 broad.mit.edu 37 6 42979021 42979021 + Silent SNP C C T TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr6:42979021C>T ENST00000485511.1 + 16 1985 c.1806C>T c.(1804-1806)ctC>ctT p.L602L PPP2R5D_ENST00000472118.1_Silent_p.L594L|PPP2R5D_ENST00000394110.3_Silent_p.L570L|PPP2R5D_ENST00000461010.1_Silent_p.L496L NM_001270476.1|NM_006245.3 NP_001257405.1|NP_006236.1 Q14738 2A5D_HUMAN protein phosphatase 2, regulatory subunit B', delta 602 nervous system development|signal transduction cytoplasm|nucleus|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 25 Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188) AGGAGGCTCTCTGACCCCTCA 0.637000 4 67 0 0 0.000602 0 0 COL14A1 7373 broad.mit.edu 37 8 121219293 121219293 + Missense_Mutation SNP G G A TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr8:121219293G>A ENST00000297848.3 + 10 1421 c.1151G>A c.(1150-1152)aGa>aAa p.R384K COL14A1_ENST00000309791.4_Missense_Mutation_p.R384K|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000247781.3_Missense_Mutation_p.R289K|COL14A1_ENST00000537875.1_Missense_Mutation_p.R384K NM_021110.1 NP_066933.1 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 384 Fibronectin type-III 2. cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 119 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) GAAAAATACAGAGTTGTGTAT 0.428000 6 34 0 0 0.001168 0 0 CHD6 84181 broad.mit.edu 37 20 40083271 40083271 + Missense_Mutation SNP C C T TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr20:40083271C>T ENST00000373233.3 - 20 3292 c.3115G>A c.(3115-3117)Gaa>Aaa p.E1039K CHD6_ENST00000309279.7_Intron NM_032221.3 NP_115597.3 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 1039 chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9) 129 Myeloproliferative disorder(115;0.00425) TGTACCTTTTCATTCTTTGCT 0.343000 26 140 0 0 0.006320 0 0 MSI2 124540 broad.mit.edu 37 17 55334425 55334425 + Missense_Mutation SNP C C T TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr17:55334425C>T ENST00000322684.3 + 1 52 c.17C>T c.(16-18)tCg>tTg p.S6L MSI2_ENST00000416426.2_Intron|MSI2_ENST00000284073.2_Intron NM_170721.1 NP_733839.1 Q96DH6 MSI2H_HUMAN musashi RNA-binding protein 2 0 cytoplasm nucleotide binding|RNA binding central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1) 7 Breast(9;1.78e-08) GBM - Glioblastoma multiforme(1;0.0025) GATCTGACATCGGTGCTCACT 0.557000 T HOXA9 CML 6 61 0 0 0.003080 0 0 METTL3 56339 broad.mit.edu 37 14 21972010 21972010 + Missense_Mutation SNP C C T TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr14:21972010C>T ENST00000298717.4 - 2 266 c.115G>A c.(115-117)Gag>Aag p.E39K METTL3_ENST00000538267.1_Missense_Mutation_p.E39K NM_019852.3 NP_062826.2 Q86U44 MTA70_HUMAN methyltransferase like 3 39 gene expression nuclear speck mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity|RNA binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 20 all_cancers(95;0.000628) Epithelial(56;6.61e-06) GBM - Glioblastoma multiforme(265;0.0146) AATGCTGCCTCTGGATTCCGT 0.468000 8 116 0 0 0.003080 0 0 PPP1R14B 26472 broad.mit.edu 37 11 64012289 64012289 + Silent SNP G G A TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr11:64012289G>A ENST00000309318.3 - 4 648 c.381C>T c.(379-381)ttC>ttT p.F127F PPP1R14B_ENST00000392210.2_Silent_p.F25F|PPP1R14B_ENST00000542235.1_Silent_p.F52F NM_138689.2 NP_619634.1 Q96C90 PP14B_HUMAN protein phosphatase 1, regulatory (inhibitor) subunit 14B 127 regulation of phosphorylation cytoplasm protein phosphatase inhibitor activity kidney(1)|lung(1)|pancreas(1) 3 GGCCAGAAATGAAGGCCTGGA 0.637000 17 72 0 0 0.004990 0 0 CDK5RAP1 51654 broad.mit.edu 37 20 31948225 31948225 + Missense_Mutation SNP C C G TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr20:31948225C>G ENST00000357886.4 - 14 1810 c.1657G>C c.(1657-1659)Gag>Cag p.E553Q CDK5RAP1_ENST00000346416.2_Missense_Mutation_p.E539Q|CDK5RAP1_ENST00000544843.1_3'UTR|CDK5RAP1_ENST00000473997.1_Missense_Mutation_p.E449Q|CDK5RAP1_ENST00000339269.5_Missense_Mutation_p.E462Q Q96SZ6 CK5P1_HUMAN CDK5 regulatory subunit associated protein 1 553 CDK5R1-binding.|TRAM. brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification cytoplasm 4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1) 26 TCCTCCATCTCTGCATCAGGG 0.527000 5 84 0 0 0.000602 0 0 STK32A 202374 broad.mit.edu 37 5 146730683 146730683 + Missense_Mutation SNP G G T TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr5:146730683G>T ENST00000397936.3 + 7 861 c.528G>T c.(526-528)caG>caT p.Q176H STK32A_ENST00000398523.3_Missense_Mutation_p.Q176H NM_001112724.1 NP_001106195.1 Q8WU08 ST32A_HUMAN serine/threonine kinase 32A 176 Protein kinase. ATP binding|metal ion binding|protein serine/threonine kinase activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1) 13 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGGAGACACAGATTACCACCA 0.448000 8 36 0.000157383 0.00029572 0.003080 1 0 MGA 23269 broad.mit.edu 37 15 42042124 42042124 + Missense_Mutation SNP C C G TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr15:42042124C>G ENST00000219905.7 + 17 6500 c.6319C>G c.(6319-6321)Caa>Gaa p.Q2107E MGA_ENST00000570161.1_Missense_Mutation_p.Q2107E|MGA_ENST00000566586.1_Missense_Mutation_p.Q1898E|MGA_ENST00000389936.4_Missense_Mutation_p.Q2068E|MGA_ENST00000545763.1_Missense_Mutation_p.Q1898E NM_001164273.1 NP_001157745.1 Q8IWI9 MGAP_HUMAN MGA, MAX dimerization protein 2068 MLL1 complex DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238) OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235) AGTACAGCATCAAAAACTTGG 0.363000 15 49 0 0 0.002450 0 0 ARHGAP29 9411 broad.mit.edu 37 1 94671205 94671205 + Missense_Mutation SNP G G A TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr1:94671205G>A ENST00000260526.6 - 6 727 c.545C>T c.(544-546)tCa>tTa p.S182L ARHGAP29_ENST00000370217.3_Missense_Mutation_p.S182L NM_004815.3 NP_004806.3 Q52LW3 RHG29_HUMAN Rho GTPase activating protein 29 182 Rho protein signal transduction cytosol metal ion binding|Rho GTPase activator activity NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 all_lung(203;0.000732)|Lung NSC(277;0.00328) all cancers(265;0.0187)|Epithelial(280;0.159) TTCACTGGATGAGTCCACTGA 0.313000 7 93 0 0 0.004482 0 0 EXPH5 23086 broad.mit.edu 37 11 108409778 108409778 + Nonsense_Mutation SNP G G C TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr11:108409778G>C ENST00000265843.4 - 3 526 c.416C>G c.(415-417)tCa>tGa p.S139* EXPH5_ENST00000525344.1_Nonsense_Mutation_p.S132*|EXPH5_ENST00000428840.1_Nonsense_Mutation_p.S63* NM_015065.2 NP_055880 Q149M6 Q149M6_HUMAN exophilin 5 139 intracellular protein transport Rab GTPase binding breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1) 91 all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16) Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184) TGGAAGCTTTGAAGTCTCCTT 0.448000 23 161 0 0 0.002780 0 0 POLD3 10714 broad.mit.edu 37 11 74340326 74340326 + Missense_Mutation SNP A A G TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr11:74340326A>G ENST00000263681.2 + 9 1093 c.964A>G c.(964-966)Aga>Gga p.R322G POLD3_ENST00000532497.1_Missense_Mutation_p.R216G|POLD3_ENST00000527458.1_Missense_Mutation_p.R283G NM_006591.2 NP_006582.1 Q15054 DPOD3_HUMAN polymerase (DNA-directed), delta 3, accessory subunit 322 base-excision repair|DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|mismatch repair|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair delta DNA polymerase complex|nucleoplasm DNA-directed DNA polymerase activity|protein binding breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|stomach(1) 18 Breast(11;3.21e-06) GAAAAAGAGGAGAAGAATCAA 0.398000 26 104 0 0 0.005443 0 0 PHLDB2 90102 broad.mit.edu 37 3 111681118 111681118 + Missense_Mutation SNP G G T TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr3:111681118G>T ENST00000431670.2 + 13 3447 c.3036G>T c.(3034-3036)atG>atT p.M1012I PHLDB2_ENST00000481953.1_Missense_Mutation_p.M969I|PHLDB2_ENST00000470699.2_3'UTR|PHLDB2_ENST00000495180.1_Missense_Mutation_p.M503I|PHLDB2_ENST00000393923.3_Missense_Mutation_p.M996I|PHLDB2_ENST00000412622.1_Missense_Mutation_p.M969I|PHLDB2_ENST00000393925.3_Missense_Mutation_p.M1012I NM_001134438.1 NP_001127910.1 Q86SQ0 PHLB2_HUMAN pleckstrin homology-like domain, family B, member 2 1012 cytoplasm|intermediate filament cytoskeleton|plasma membrane breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1) 55 CTGATAGCATGGAGACCAGCA 0.423000 19 100 5.35267e-07 1.02869e-06 0.007413 1 0 MUC16 94025 broad.mit.edu 37 19 9048498 9048498 + Missense_Mutation SNP G G C TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr19:9048498G>C ENST00000397910.4 - 5 33336 c.33133C>G c.(33133-33135)Ctg>Gtg p.L11045V NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 11047 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CTAGTGACCAGAGAGGTCACC 0.493000 14 120 0 0 0.001855 0 0 GOLIM4 27333 broad.mit.edu 37 3 167747602 167747602 + Missense_Mutation SNP C C G TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr3:167747602C>G ENST00000470487.1 - 10 2088 c.1399G>C c.(1399-1401)Gag>Cag p.E467Q GOLIM4_ENST00000309027.4_Missense_Mutation_p.E439Q NM_014498.3 NP_055313.1 O00461 GOLI4_HUMAN golgi integral membrane protein 4 467 Gln-rich.|Glu-rich. transport cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 CGGCCCTCCTCAAGCTCAGCC 0.582000 14 64 0 0 0.002450 0 0 RRN3P2 653390 broad.mit.edu 37 16 29110458 29110458 + RNA SNP T T C rs151074589 by1000genomes TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr16:29110458T>C ENST00000564580.1 + 0 1131 p.W375R(25) GAATTTTGAGTGGATAGTGAT 0.328000 5 47 0 0 0.000602 0 0 PPP2R5D 5528 broad.mit.edu 37 6 42975942 42975942 + Silent SNP C C T TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr6:42975942C>T ENST00000485511.1 + 8 1040 c.861C>T c.(859-861)ttC>ttT p.F287F PPP2R5D_ENST00000472118.1_Silent_p.F279F|PPP2R5D_ENST00000394110.3_Silent_p.F255F|PPP2R5D_ENST00000461010.1_Silent_p.F181F NM_001270476.1|NM_006245.3 NP_001257405.1|NP_006236.1 Q14738 2A5D_HUMAN protein phosphatase 2, regulatory subunit B', delta 287 nervous system development|signal transduction cytoplasm|nucleus|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 25 Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188) CCCTCAGGTTCATCTACGAGA 0.582000 19 228 0 0 0.007413 0 0 EZR 7430 broad.mit.edu 37 6 159204664 159204664 + Missense_Mutation SNP G G T TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr6:159204664G>T ENST00000367075.3 - 7 754 c.586C>A c.(586-588)Cag>Aag p.Q196K EZR_ENST00000337147.7_Missense_Mutation_p.Q196K|EZR_ENST00000392177.4_Missense_Mutation_p.Q164K|EZR_ENST00000476189.1_5'UTR NM_001111077.1 NP_001104547.1 P15311 EZRI_HUMAN ezrin 196 FERM. actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane actin filament binding|cell adhesion molecule binding EZR/ROS1(4) breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2) 15 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06) TCCAGGTCCTGAGCAATCTTC 0.393000 T ROS1 NSCLC 9 112 2.17888e-05 4.10715e-05 0.006214 1 0 ADAM29 11086 broad.mit.edu 37 4 175898900 175898900 + Nonsense_Mutation SNP C C T rs114366167 by1000genomes TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr4:175898900C>T ENST00000359240.3 + 5 2894 c.2224C>T c.(2224-2226)Caa>Taa p.Q742* ADAM29_ENST00000445694.1_Nonsense_Mutation_p.Q742*|ADAM29_ENST00000404450.4_Nonsense_Mutation_p.Q742*|RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000514159.1_Nonsense_Mutation_p.Q742* NM_001278125.1|NM_014269.4 NP_001265054.1|NP_055084.3 Q9UKF5 ADA29_HUMAN ADAM metallopeptidase domain 29 742 9 X 9 AA approximate repeats. proteolysis|spermatogenesis integral to plasma membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2) 93 Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286) TTCCCAGAGTCAACCTCCTGT 0.527000 10 159 0 0 0.006214 0 0 TRIO 7204 broad.mit.edu 37 5 14381297 14381297 + Missense_Mutation SNP G G T TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr5:14381297G>T ENST00000344204.4 + 21 3530 c.3506G>T c.(3505-3507)gGc>gTc p.G1169V TRIO_ENST00000509967.2_Missense_Mutation_p.G1120V|TRIO_ENST00000537187.1_Missense_Mutation_p.G1169V NM_007118.2 NP_009049.2 O75962 TRIO_HUMAN trio Rho guanine nucleotide exchange factor 1169 apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 118 Lung NSC(4;0.000742) ACCTCCACGGGCTCCAGTATA 0.502000 4 123 1.23904e-05 2.34306e-05 0.000602 1 0 UVSSA 57654 broad.mit.edu 37 4 1347046 1347046 + Missense_Mutation SNP C C T TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr4:1347046C>T ENST00000389851.4 + 5 1226 c.779C>T c.(778-780)tCt>tTt p.S260F UVSSA_ENST00000507531.1_Missense_Mutation_p.S260F|UVSSA_ENST00000511216.1_Missense_Mutation_p.S260F NM_020894.2 NP_065945.2 Q2YD98 K1530_HUMAN UV-stimulated scaffold protein A 260 CTGCCTGCCTCTGCAGGCCAC 0.706000 9 36 0 0 0.004482 0 0 RTP3 83597 broad.mit.edu 37 3 46542062 46542062 + Missense_Mutation SNP G G C TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr3:46542062G>C ENST00000296142.3 + 2 944 c.372G>C c.(370-372)aaG>aaC p.K124N NM_031440.1 NP_113628.1 Q9BQQ7 RTP3_HUMAN receptor (chemosensory) transporter protein 3 124 detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane cytoplasm|integral to membrane protein binding endometrium(1)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1) 10 BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204) GAATTCTGAAGAAATGCTATA 0.448000 15 144 0 0 0.002450 0 0 EPS8L2 64787 broad.mit.edu 37 11 723320 723320 + Missense_Mutation SNP C C T TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr11:723320C>T ENST00000533256.1 + 16 1796 c.1421C>T c.(1420-1422)gCc>gTc p.A474V AP006621.9_ENST00000527021.2_RNA|EPS8L2_ENST00000318562.8_Missense_Mutation_p.A474V|EPS8L2_ENST00000526198.1_Missense_Mutation_p.A490V|EPS8L2_ENST00000530636.1_Missense_Mutation_p.A474V Q9H6S3 ES8L2_HUMAN EPS8-like 2 474 cytoplasm NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1) 13 all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136) all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703) CCGGGGGATGCCCTACCACCA 0.572000 OREG0020659 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 82 0 0 0.004007 0 0 ADAMTS10 81794 broad.mit.edu 37 19 8670214 8670214 + Nonsense_Mutation SNP C C A TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr19:8670214C>A ENST00000270328.4 - 3 384 c.118G>T c.(118-120)Gag>Tag p.E40* ADAMTS10_ENST00000597188.1_Nonsense_Mutation_p.E40*|ADAMTS10_ENST00000596709.1_5'UTR Q9H324 ATS10_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 10 40 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1) 53 AAGGCGATCTCATAGCTCTCC 0.667000 3 11 0.004672 0.008614 0.004672 1 0 KLF10 7071 broad.mit.edu 37 8 103664522 103664522 + Missense_Mutation SNP G G A TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr8:103664522G>A ENST00000395884.3 - 2 1009 c.107C>T c.(106-108)tCa>tTa p.S36L KLF10_ENST00000285407.6_Missense_Mutation_p.S47L NM_001032282.2 NP_001027453.1 Q13118 KLF10_HUMAN Kruppel-like factor 10 47 cell proliferation|cell-cell signaling|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|skeletal system development|transforming growth factor beta receptor signaling pathway nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(3) 18 all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169) OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826) GCAGCTCATTGACATAAGTGC 0.388000 28 191 0 0 0.006320 0 0 ZBTB47 92999 broad.mit.edu 37 3 42700994 42700994 + Missense_Mutation SNP G G A TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr3:42700994G>A ENST00000457842.3 + 2 1428 c.19G>A c.(19-21)Gag>Aag p.E7K ZBTB47_ENST00000232974.6_Missense_Mutation_p.E383K|ZBTB47_ENST00000505904.1_Intron NM_145166.3 NP_660149.2 Q9UFB7 ZBT47_HUMAN zinc finger and BTB domain containing 47 7 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(3)|ovary(1) 13 KIRC - Kidney renal clear cell carcinoma(284;0.216) ACGGTCCCGGGAGAACGCCCG 0.731000 5 13 0 0 0.001168 0 0 MAEL 84944 broad.mit.edu 37 1 166974525 166974525 + Missense_Mutation SNP G G C TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr1:166974525G>C ENST00000367872.4 + 8 980 c.736G>C c.(736-738)Gag>Cag p.E246Q MAEL_ENST00000491055.1_3'UTR|MAEL_ENST00000367870.2_Missense_Mutation_p.E215Q NM_032858.1 NP_116247.1 Q96JY0 MAEL_HUMAN maelstrom spermatogenic transposon silencer 246 cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis piP-body DNA binding breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4) 28 TCTCACTGTAGAGGACCTTGT 0.393000 9 59 0 0 0.004482 0 0 ARID2 196528 broad.mit.edu 37 12 46242729 46242729 + Missense_Mutation SNP C C T TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr12:46242729C>T ENST00000334344.6 + 13 1863 c.1691C>T c.(1690-1692)tCa>tTa p.S564L ARID2_ENST00000444670.1_Missense_Mutation_p.S174L|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Missense_Mutation_p.S415L NM_152641.2 NP_689854.2 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 564 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 116 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) ATCCTAACATCAACTGGATTT 0.343000 """N, S, F""" hepatocellular carcinoma 12 93 0 0 0.001855 0 0 SCNN1D 6339 broad.mit.edu 37 1 1221321 1221321 + Frame_Shift_Del DEL C C - TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr1:1221321delC ENST00000338555.2 + 4 1226 c.82delC c.(82-84)cccfs p.P29fs SCNN1D_ENST00000400928.3_Frame_Shift_Del_p.P29fs|SCNN1D_ENST00000379116.5_Frame_Shift_Del_p.P193fs|SCNN1D_ENST00000325425.8_Frame_Shift_Del_p.P95fs sodium channel, non-voltage-gated 1, delta subunit lung(6)|skin(1) 7 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199) AGCCCAGACGCCCCCCAGGCC 0.706 2 4 --- --- --- --- PTPN18 26469 broad.mit.edu 37 2 131129929 131129934 + In_Frame_Del DEL GACGGG GACGGG - rs112040677 TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr2:131129929_131129934delGACGGG ENST00000175756.5 + 13 1214_1219 c.1113_1118delGACGGG c.(1111-1119)cagacgggg>cag p.TG378del PTPN18_ENST00000347849.3_In_Frame_Del_p.TG271del NM_014369.3 NP_055184.2 Q99952 PTN18_HUMAN protein tyrosine phosphatase, non-receptor type 18 (brain-derived) 378 Missing (in Ref. 1; CAA56105). cytoplasm|nucleus non-membrane spanning protein tyrosine phosphatase activity p.T378_G379delTG(1) endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1) 15 Colorectal(110;0.1) gtgggacgcagacggggacggggacg 0.777 4 8 --- --- --- --- INTS4P2 644619 broad.mit.edu 37 7 65150816 65150817 + RNA INS - - C TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr7:65150816_65150817insC ENST00000430126.2 + 0 757 TTCATCCCTCACCCCCCCCCCC 0.465 5 9 --- --- --- --- FOXE1 2304 broad.mit.edu 37 9 100616701 100616706 + In_Frame_Del DEL GCCGCC GCCGCC - rs11279082 TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr9:100616701_100616706delGCCGCC ENST00000375123.3 + 1 1166_1171 c.505_510delGCCGCC c.(505-510)gccgccdel p.AA177del NM_004473.3 NP_004464.2 O00358 FOXE1_HUMAN forkhead box E1 (thyroid transcription factor 2) 177 Ala-rich.|Poly-Ala. cell migration|embryonic organ morphogenesis|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|peripheral nervous system development|pharynx development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thymus development|thyroid gland development|thyroid hormone generation transcription factor complex DNA bending activity|double-stranded DNA binding|promoter 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 central_nervous_system(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1) 5 Acute lymphoblastic leukemia(62;0.158) Ggctgccgcagccgccgccgccgccg 0.767 8 15 --- --- --- --- SPTAN1 6709 broad.mit.edu 37 9 131395173 131395182 + Frame_Shift_Del DEL GCGCCTTCCG GCGCCTTCCG - rs148984013 TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr9:131395173_131395182delGCGCCTTCCG ENST00000372739.3 + 56 7357_7366 c.7247_7256delGCGCCTTCCG c.(7246-7257)agcgccttccggfs p.SAFR2416fs SPTAN1_ENST00000372731.4_Frame_Shift_Del_p.SAFR2411fs|SPTAN1_ENST00000358161.5_Frame_Shift_Del_p.SAFR2416fs NM_001130438.2 NP_001123910.1 Q13813 SPTA2_HUMAN spectrin, alpha, non-erythrocytic 1 2411 EF-hand 3. actin filament capping|axon guidance|cellular component disassembly involved in apoptosis cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 87 GAGATTGAGAGCGCCTTCCGGGCCCTCAGC 0.548 9 192 --- --- --- --- RBM4 5936 broad.mit.edu 37 11 66411376 66411393 + In_Frame_Del DEL GCAGCAGCCGCTGCTGCT GCAGCAGCCGCTGCTGCT - TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr11:66411376_66411393delGCAGCAGCCGCTGCTGCT ENST00000409406.1 + 2 1645_1662 c.868_885delGCAGCAGCCGCTGCTGCT c.(868-885)gcagcagccgctgctgctdel p.AAAAAA290del RBM4_ENST00000530235.1_Intron|RBM4_ENST00000408993.2_In_Frame_Del_p.AAAAAA290del|RBM4_ENST00000310092.7_In_Frame_Del_p.AAAAAA290del|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000514361.3_In_Frame_Del_p.AAAAAA265del|RBM4_ENST00000506523.2_Intron|RBM14-RBM4_ENST00000412278.2_In_Frame_Del_p.AAAAAA265del|RBM4_ENST00000515838.2_3'UTR|RBM4_ENST00000396053.4_Intron|RBM4_ENST00000578778.1_Intron|RBM4_ENST00000398692.4_Intron|RBM4_ENST00000503028.2_In_Frame_Del_p.AAAAAA290del RNA binding motif protein 4 endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266) tgctgctgcagcagcagccgctgctgctgttactgcag 0.619 13 139 --- --- --- --- DNM1P47 100216544 broad.mit.edu 37 15 102293062 102293064 + RNA DEL CTC CTC - rs4965539 TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr15:102293062_102293064delCTC ENST00000561463.1 + 0 1108_1110 AGTTCATCTTCTCAGAGCTGCTG 0.576 2 4 --- --- --- --- IL9RP3 729486 broad.mit.edu 37 16 81973 81974 + RNA INS - - GTCC TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr16:81973_81974insGTCC ENST00000568710.1 - 0 349 ATCAGCAGGAGGCCCACCTCGT 0.614 7 62 --- --- --- --- KANSL1 284058 broad.mit.edu 37 17 44248803 44248807 + Frame_Shift_Del DEL GAATT GAATT - TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx ceab2224-d96f-4033-bc35-48a3a5ec874c 0f1ad1e0-e453-4493-894d-82da6a6e6369 g.chr17:44248803_44248807delGAATT ENST00000262419.6 - 2 1173_1177 c.703_707delAATTC c.(703-708)aattccfs p.NS235fs KANSL1_ENST00000572904.1_Frame_Shift_Del_p.NS235fs|KANSL1_ENST00000432791.1_Frame_Shift_Del_p.NS235fs|KANSL1_ENST00000393476.3_5'UTR|KANSL1_ENST00000574590.1_Frame_Shift_Del_p.NS235fs|KANSL1_ENST00000575318.1_Frame_Shift_Del_p.NS235fs NM_001193466.1 NP_001180395 Q7Z3B3 K1267_HUMAN KAT8 regulatory NSL complex subunit 1 235 MLL1 complex protein binding CTGTTCCATGGAATTGACAGAGGAT 0.454 23 131 --- --- --- ---